Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 46132 single nucleotide variant NM_007294.3(BRCA1):c.4219C>G (p.Leu1407Val) 397507227 MedGen:C2676676,OMIM:604370 17 41234559 41234559 G C 46132 single nucleotide variant NM_007294.3(BRCA1):c.4219C>G (p.Leu1407Val) 397507227 MedGen:C2676676,OMIM:604370 17 43082542 43082542 G C 32699 single nucleotide variant NM_007294.3(BRCA1):c.190T>G (p.Cys64Gly) 80357064 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41258495 41258495 A C 32699 single nucleotide variant NM_007294.3(BRCA1):c.190T>G (p.Cys64Gly) 80357064 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43106478 43106478 A C 32700 single nucleotide variant NM_007294.3(BRCA1):c.181T>G (p.Cys61Gly) 28897672 MedGen:CN221572;Human Phenotype Ontology:HP:0003002,MedGen:CN002714;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41258504 41258504 A C 32700 single nucleotide variant NM_007294.3(BRCA1):c.181T>G (p.Cys61Gly) 28897672 MedGen:CN221572;Human Phenotype Ontology:HP:0003002,MedGen:CN002714;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43106487 43106487 A C 32701 deletion NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs) 386833395 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C3280442,OMIM:614320;MedGen:CN221809 17 41276047 41276048 CT - 32701 deletion NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs) 386833395 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C3280442,OMIM:614320;MedGen:CN221809 17 43124030 43124031 CT - 32702 insertion BRCA1, 59-BP INS -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 32704 deletion NM_007294.3(BRCA1):c.1175_1214del40 (p.Leu392Glnfs) 80359874 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41246334 41246373 na na 32704 deletion NM_007294.3(BRCA1):c.1175_1214del40 (p.Leu392Glnfs) 80359874 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43094317 43094356 na na 32705 deletion NM_007294.3(BRCA1):c.2296_2297delAG (p.Ser766Terfs) 80357780 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245251 41245252 CT - 32705 deletion NM_007294.3(BRCA1):c.2296_2297delAG (p.Ser766Terfs) 80357780 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093234 43093235 CT - 32706 deletion NM_007294.3(BRCA1):c.2681_2682delAA (p.Lys894Thrfs) 80357971 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41244866 41244867 TT - 32706 deletion NM_007294.3(BRCA1):c.2681_2682delAA (p.Lys894Thrfs) 80357971 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43092849 43092850 TT - 32708 deletion NM_007294.3(BRCA1):c.3005delA (p.Asn1002Thrfs) 80357601 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43092526 43092526 T - 32708 deletion NM_007294.3(BRCA1):c.3005delA (p.Asn1002Thrfs) 80357601 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41244543 41244543 T - 32709 single nucleotide variant NM_007294.3(BRCA1):c.3119G>A (p.Ser1040Asn) 4986852 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41244429 41244429 C T 32709 single nucleotide variant NM_007294.3(BRCA1):c.3119G>A (p.Ser1040Asn) 4986852 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43092412 43092412 C T 32710 single nucleotide variant NM_007294.3(BRCA1):c.3607C>T (p.Arg1203Ter) 62625308 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41243941 41243941 G A 32710 single nucleotide variant NM_007294.3(BRCA1):c.3607C>T (p.Arg1203Ter) 62625308 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43091924 43091924 G A 32711 single nucleotide variant NM_007294.3(BRCA1):c.3748G>T (p.Glu1250Ter) 28897686 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41243800 41243800 C A 32711 single nucleotide variant NM_007294.3(BRCA1):c.3748G>T (p.Glu1250Ter) 28897686 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43091783 43091783 C A 32712 deletion NM_007294.3(BRCA1):c.3756_3759delGTCT (p.Ser1253Argfs) 80357868 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41243789 41243792 AGAC - 32712 deletion NM_007294.3(BRCA1):c.3756_3759delGTCT (p.Ser1253Argfs) 80357868 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43091772 43091775 AGAC - 32713 deletion NM_007294.3(BRCA1):c.4065_4068delTCAA (p.Asn1355Lysfs) 80357508 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41243480 41243483 TTGA - 32713 deletion NM_007294.3(BRCA1):c.4065_4068delTCAA (p.Asn1355Lysfs) 80357508 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43091463 43091466 TTGA - 32714 single nucleotide variant NM_007294.3(BRCA1):c.4327C>T (p.Arg1443Ter) 41293455 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41234451 41234451 G A 32714 single nucleotide variant NM_007294.3(BRCA1):c.4327C>T (p.Arg1443Ter) 41293455 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43082434 43082434 G A 32715 single nucleotide variant NM_007294.3(BRCA1):c.4327C>G (p.Arg1443Gly) 41293455 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41234451 41234451 G C 32715 single nucleotide variant NM_007294.3(BRCA1):c.4327C>G (p.Arg1443Gly) 41293455 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43082434 43082434 G C 32716 duplication NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) 80357906 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;Human Phenotype Ontology:HP:0100615,MedGen:CN117507;MedGen:CN221809 17 41209082 41209082 G GG 32716 duplication NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) 80357906 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;Human Phenotype Ontology:HP:0100615,MedGen:CN117507;MedGen:CN221809 17 43057065 43057065 G GG 32718 deletion NM_007294.3(BRCA1):c.4966_4984del19 (p.Gly1656Leufs) 80359884 MedGen:C2676676,OMIM:604370 17 41222947 41222965 na na 32718 deletion NM_007294.3(BRCA1):c.4966_4984del19 (p.Gly1656Leufs) 80359884 MedGen:C2676676,OMIM:604370 17 43070930 43070948 na na 32720 single nucleotide variant NM_007294.3(BRCA1):c.2521C>T (p.Arg841Trp) 1800709 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41245027 41245027 G A 32720 single nucleotide variant NM_007294.3(BRCA1):c.2521C>T (p.Arg841Trp) 1800709 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43093010 43093010 G A 32721 single nucleotide variant NM_007294.3(BRCA1):c.2389G>T (p.Glu797Ter) 62625306 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41245159 41245159 C A 32721 single nucleotide variant NM_007294.3(BRCA1):c.2389G>T (p.Glu797Ter) 62625306 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43093142 43093142 C A 32722 deletion NM_007294.3(BRCA1):c.843_846delCTCA (p.Ser282Tyrfs) 80357919 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41246702 41246705 TGAG - 32722 deletion NM_007294.3(BRCA1):c.843_846delCTCA (p.Ser282Tyrfs) 80357919 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43094685 43094688 TGAG - 32723 deletion NM_007294.3(BRCA1):c.3481_3491delGAAGATACTAG (p.Glu1161Phefs) 80357877 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41244057 41244067 CTAGTATCTTC - 32723 deletion NM_007294.3(BRCA1):c.3481_3491delGAAGATACTAG (p.Glu1161Phefs) 80357877 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43092040 43092050 CTAGTATCTTC - 32724 deletion NM_007294.3(BRCA1):c.1556delA (p.Lys519Argfs) 80357662 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41245992 41245992 T - 32724 deletion NM_007294.3(BRCA1):c.1556delA (p.Lys519Argfs) 80357662 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43093975 43093975 T - 32728 deletion BRCA1, 1-BP DEL, 4153A -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 32729 insertion BRCA1, 6-KB DUP, EX13 -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 32732 single nucleotide variant NM_007294.3(BRCA1):c.211A>G (p.Arg71Gly) 80357382 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41258474 41258474 T C 32732 single nucleotide variant NM_007294.3(BRCA1):c.211A>G (p.Arg71Gly) 80357382 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43106457 43106457 T C 32733 single nucleotide variant NM_007294.3(BRCA1):c.5324T>G (p.Met1775Arg) 41293463 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41203088 41203088 A C 32733 single nucleotide variant NM_007294.3(BRCA1):c.5324T>G (p.Met1775Arg) 41293463 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43051071 43051071 A C 32734 single nucleotide variant NM_007294.3(BRCA1):c.5324T>A (p.Met1775Lys) 41293463 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41203088 41203088 A T 32734 single nucleotide variant NM_007294.3(BRCA1):c.5324T>A (p.Met1775Lys) 41293463 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43051071 43051071 A T 45975 single nucleotide variant NM_007294.3(BRCA1):c.1532G>T (p.Gly511Val) 397507188 MedGen:C2676676,OMIM:604370 17 41246016 41246016 C A 45975 single nucleotide variant NM_007294.3(BRCA1):c.1532G>T (p.Gly511Val) 397507188 MedGen:C2676676,OMIM:604370 17 43093999 43093999 C A 46166 indel NM_007294.3(BRCA1):c.4775_4779delACATAinsC (p.Asn1592Thrfs) 397507237 MedGen:C2676676,OMIM:604370 17 43071135 43071139 TATGT G 45942 deletion NM_007294.3(BRCA1):c.1016delA (p.Lys339Argfs) 80357618 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41246532 41246532 T - 45942 deletion NM_007294.3(BRCA1):c.1016delA (p.Lys339Argfs) 80357618 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43094515 43094515 T - 45943 deletion NM_007294.3(BRCA1):c.1018delG (p.Val340Terfs) 80357774 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41246530 41246530 C - 45943 deletion NM_007294.3(BRCA1):c.1018delG (p.Val340Terfs) 80357774 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43094513 43094513 C - 45944 single nucleotide variant NM_007294.3(BRCA1):c.1033G>T (p.Asp345Tyr) 80356961 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 41246515 41246515 C A 45944 single nucleotide variant NM_007294.3(BRCA1):c.1033G>T (p.Asp345Tyr) 80356961 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 43094498 43094498 C A 45945 single nucleotide variant NM_007294.3(BRCA1):c.1036C>T (p.Pro346Ser) 80357015 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246512 41246512 G A 45945 single nucleotide variant NM_007294.3(BRCA1):c.1036C>T (p.Pro346Ser) 80357015 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094495 43094495 G A 45946 single nucleotide variant NM_007294.3(BRCA1):c.1105G>A (p.Asp369Asn) 56056711 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41246443 41246443 C T 45946 single nucleotide variant NM_007294.3(BRCA1):c.1105G>A (p.Asp369Asn) 56056711 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43094426 43094426 C T 45947 deletion NM_007294.3(BRCA1):c.1121delC (p.Thr374Asnfs) 80357612 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246427 41246427 G - 45947 deletion NM_007294.3(BRCA1):c.1121delC (p.Thr374Asnfs) 80357612 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094410 43094410 G - 45948 single nucleotide variant NM_007294.3(BRCA1):c.116G>A (p.Cys39Tyr) 80357498 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41267761 41267761 C T 45948 single nucleotide variant NM_007294.3(BRCA1):c.116G>A (p.Cys39Tyr) 80357498 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43115744 43115744 C T 45949 single nucleotide variant NM_007294.3(BRCA1):c.116G>T (p.Cys39Phe) 80357498 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41267761 41267761 C A 45949 single nucleotide variant NM_007294.3(BRCA1):c.116G>T (p.Cys39Phe) 80357498 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43115744 43115744 C A 45950 deletion NM_007294.3(BRCA1):c.1175_1215del41 (p.Leu392Glnfs) 397507180 MedGen:C2676676,OMIM:604370 17 41246333 41246373 na na 45950 deletion NM_007294.3(BRCA1):c.1175_1215del41 (p.Leu392Glnfs) 397507180 MedGen:C2676676,OMIM:604370 17 43094316 43094356 na na 45951 deletion NM_007294.3(BRCA1):c.1175_1216del42 (p.Leu392_Asn406delinsHis) 397507181 MedGen:C2676676,OMIM:604370 17 41246332 41246373 na na 45951 deletion NM_007294.3(BRCA1):c.1175_1216del42 (p.Leu392_Asn406delinsHis) 397507181 MedGen:C2676676,OMIM:604370 17 43094315 43094356 na na 45952 deletion NM_007294.3(BRCA1):c.1175_1217del43 (p.Leu393Profs) 397507182 MedGen:C2676676,OMIM:604370 17 41246331 41246373 na na 45952 deletion NM_007294.3(BRCA1):c.1175_1217del43 (p.Leu393Profs) 397507182 MedGen:C2676676,OMIM:604370 17 43094314 43094356 na na 45953 deletion NM_007294.3(BRCA1):c.1175_1218del44 (p.Leu392Argfs) 397507183 MedGen:C2676676,OMIM:604370 17 41246330 41246373 na na 45953 deletion NM_007294.3(BRCA1):c.1175_1218del44 (p.Leu392Argfs) 397507183 MedGen:C2676676,OMIM:604370 17 43094313 43094356 na na 45954 single nucleotide variant NM_007294.3(BRCA1):c.1202G>A (p.Gly401Glu) 397507184 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41246346 41246346 C T 45954 single nucleotide variant NM_007294.3(BRCA1):c.1202G>A (p.Gly401Glu) 397507184 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43094329 43094329 C T 45955 single nucleotide variant NM_007294.3(BRCA1):c.1222A>G (p.Lys408Glu) 80357253 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41246326 41246326 T C 45955 single nucleotide variant NM_007294.3(BRCA1):c.1222A>G (p.Lys408Glu) 80357253 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43094309 43094309 T C 45956 single nucleotide variant NM_007294.3(BRCA1):c.134+5G>C 80358038 MedGen:C2676676,OMIM:604370 17 41267738 41267738 C G 45956 single nucleotide variant NM_007294.3(BRCA1):c.134+5G>C 80358038 MedGen:C2676676,OMIM:604370 17 43115721 43115721 C G 45957 insertion NM_007294.3(BRCA1):c.1340_1341insG (p.His448Serfs) 80357597 MedGen:C2676676,OMIM:604370 17 41246207 41246208 - C 45957 insertion NM_007294.3(BRCA1):c.1340_1341insG (p.His448Serfs) 80357597 MedGen:C2676676,OMIM:604370 17 43094190 43094191 - C 45958 single nucleotide variant NM_007294.3(BRCA1):c.134A>C (p.Lys45Thr) 80356863 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41267743 41267743 T G 45958 single nucleotide variant NM_007294.3(BRCA1):c.134A>C (p.Lys45Thr) 80356863 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43115726 43115726 T G 45959 single nucleotide variant NM_007294.3(BRCA1):c.135-15C>G 397507185 MedGen:C2676676,OMIM:604370 17 41258565 41258565 G C 45959 single nucleotide variant NM_007294.3(BRCA1):c.135-15C>G 397507185 MedGen:C2676676,OMIM:604370 17 43106548 43106548 G C 45960 single nucleotide variant NM_007294.3(BRCA1):c.135-1G>T 80358158 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41258551 41258551 C A 45960 single nucleotide variant NM_007294.3(BRCA1):c.135-1G>T 80358158 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43106534 43106534 C A 45961 duplication NM_007294.3(BRCA1):c.135-8dupA 397507186 MedGen:C2676676,OMIM:604370 17 41258558 41258558 T TT 45961 duplication NM_007294.3(BRCA1):c.135-8dupA 397507186 MedGen:C2676676,OMIM:604370 17 43106541 43106541 T TT 45962 deletion NM_007294.3(BRCA1):c.1360_1361delAG (p.Ser454Terfs) 80357969 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41246187 41246188 CT - 45962 deletion NM_007294.3(BRCA1):c.1360_1361delAG (p.Ser454Terfs) 80357969 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43094170 43094171 CT - 45964 indel NM_007294.3(BRCA1):c.1387_1390delAAAAins5 397508866 MedGen:C2676676,OMIM:604370 17 41246158 41246161 na na 45964 indel NM_007294.3(BRCA1):c.1387_1390delAAAAins5 397508866 MedGen:C2676676,OMIM:604370 17 43094141 43094144 na na 45965 indel NM_007294.3(BRCA1):c.1389_1390delAAinsG (p.Thr464Profs) 273897659 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41246158 41246159 TT C 45965 indel NM_007294.3(BRCA1):c.1389_1390delAAinsG (p.Thr464Profs) 273897659 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43094141 43094142 TT C 45966 single nucleotide variant NM_007294.3(BRCA1):c.1396C>T (p.Arg466Trp) 80356964 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41246152 41246152 G A 45966 single nucleotide variant NM_007294.3(BRCA1):c.1396C>T (p.Arg466Trp) 80356964 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43094135 43094135 G A 45967 single nucleotide variant NM_007294.3(BRCA1):c.1405G>A (p.Ala469Thr) 397507187 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246143 41246143 C T 45967 single nucleotide variant NM_007294.3(BRCA1):c.1405G>A (p.Ala469Thr) 397507187 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094126 43094126 C T 45968 deletion NM_007294.3(BRCA1):c.143delT (p.Met48Serfs) 80357637 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41258542 41258542 A - 45968 deletion NM_007294.3(BRCA1):c.143delT (p.Met48Serfs) 80357637 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43106525 43106525 A - 45969 deletion NM_007294.3(BRCA1):c.1444_1447delATTA (p.Ile482Terfs) 80357801 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41246101 41246104 TAAT - 45969 deletion NM_007294.3(BRCA1):c.1444_1447delATTA (p.Ile482Terfs) 80357801 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43094084 43094087 TAAT - 45970 single nucleotide variant NM_007294.3(BRCA1):c.1459G>T (p.Val487Phe) 369588942 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41246089 41246089 C A 45970 single nucleotide variant NM_007294.3(BRCA1):c.1459G>T (p.Val487Phe) 369588942 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43094072 43094072 C A 45971 single nucleotide variant NM_007294.3(BRCA1):c.1480C>T (p.Gln494Ter) 80357010 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41246068 41246068 G A 45971 single nucleotide variant NM_007294.3(BRCA1):c.1480C>T (p.Gln494Ter) 80357010 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43094051 43094051 G A 45972 single nucleotide variant NM_007294.3(BRCA1):c.1486C>T (p.Arg496Cys) 28897676 MedGen:CN221562;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246062 41246062 G A 45972 single nucleotide variant NM_007294.3(BRCA1):c.1486C>T (p.Arg496Cys) 28897676 MedGen:CN221562;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094045 43094045 G A 45973 deletion NM_007294.3(BRCA1):c.1504_1508delTTAAA (p.Leu502Alafs) 80357888 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41246040 41246044 TTTAA - 45973 deletion NM_007294.3(BRCA1):c.1504_1508delTTAAA (p.Leu502Alafs) 80357888 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43094023 43094027 TTTAA - 45974 deletion NM_007294.3(BRCA1):c.1510delC (p.Arg504Valfs) 80357908 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41246038 41246038 G - 45974 deletion NM_007294.3(BRCA1):c.1510delC (p.Arg504Valfs) 80357908 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43094021 43094021 G - 45976 single nucleotide variant NM_007294.3(BRCA1):c.1534C>T (p.Leu512Phe) 41286294 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246014 41246014 G A 45976 single nucleotide variant NM_007294.3(BRCA1):c.1534C>T (p.Leu512Phe) 41286294 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093997 43093997 G A 45977 single nucleotide variant NM_007294.3(BRCA1):c.154C>T (p.Leu52Phe) 80357084 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41258531 41258531 G A 45977 single nucleotide variant NM_007294.3(BRCA1):c.154C>T (p.Leu52Phe) 80357084 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43106514 43106514 G A 45978 single nucleotide variant NM_007294.3(BRCA1):c.161A>G (p.Gln54Arg) 397507189 MedGen:C2676676,OMIM:604370 17 41258524 41258524 T C 45978 single nucleotide variant NM_007294.3(BRCA1):c.161A>G (p.Gln54Arg) 397507189 MedGen:C2676676,OMIM:604370 17 43106507 43106507 T C 45979 single nucleotide variant NM_007294.3(BRCA1):c.1648A>C (p.Asn550His) 56012641 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245900 41245900 T G 45979 single nucleotide variant NM_007294.3(BRCA1):c.1648A>C (p.Asn550His) 56012641 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093883 43093883 T G 45980 single nucleotide variant NM_007294.3(BRCA1):c.1672A>C (p.Lys558Gln) 397507190 MedGen:C2676676,OMIM:604370 17 41245876 41245876 T G 45980 single nucleotide variant NM_007294.3(BRCA1):c.1672A>C (p.Lys558Gln) 397507190 MedGen:C2676676,OMIM:604370 17 43093859 43093859 T G 45981 deletion NM_007294.3(BRCA1):c.1674delA (p.Gly559Valfs) 80357600 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41245874 41245874 T - 45981 deletion NM_007294.3(BRCA1):c.1674delA (p.Gly559Valfs) 80357600 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43093857 43093857 T - 46119 single nucleotide variant NM_007294.3(BRCA1):c.4075C>G (p.Gln1359Glu) 80357456 MedGen:C2676676,OMIM:604370 17 41243473 41243473 G C 45982 single nucleotide variant NM_007294.3(BRCA1):c.1687C>T (p.Gln563Ter) 80356898 Human Phenotype Ontology:HP:0003002,MedGen:CN002714;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1140680;Human Phenotype Ontology:HP:0100615,MedGen:CN117507;MedGen:CN221809 17 41245861 41245861 G A 45982 single nucleotide variant NM_007294.3(BRCA1):c.1687C>T (p.Gln563Ter) 80356898 Human Phenotype Ontology:HP:0003002,MedGen:CN002714;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1140680;Human Phenotype Ontology:HP:0100615,MedGen:CN117507;MedGen:CN221809 17 43093844 43093844 G A 45983 single nucleotide variant NM_007294.3(BRCA1):c.1690A>T (p.Asn564Tyr) 397507191 MedGen:C2676676,OMIM:604370 17 41245858 41245858 T A 45983 single nucleotide variant NM_007294.3(BRCA1):c.1690A>T (p.Asn564Tyr) 397507191 MedGen:C2676676,OMIM:604370 17 43093841 43093841 T A 45984 duplication NM_007294.3(BRCA1):c.1728dupA (p.Glu577Argfs) 397507192 MedGen:C2676676,OMIM:604370 17 41245820 41245820 T TT 45984 duplication NM_007294.3(BRCA1):c.1728dupA (p.Glu577Argfs) 397507192 MedGen:C2676676,OMIM:604370 17 43093803 43093803 T TT 45985 single nucleotide variant NM_007294.3(BRCA1):c.1826A>G (p.Asn609Ser) 80357236 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245722 41245722 T C 45985 single nucleotide variant NM_007294.3(BRCA1):c.1826A>G (p.Asn609Ser) 80357236 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093705 43093705 T C 45986 deletion NM_007294.3(BRCA1):c.1846_1848delTCT (p.Ser616del) 80358329 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245700 41245702 AGA - 45986 deletion NM_007294.3(BRCA1):c.1846_1848delTCT (p.Ser616del) 80358329 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093683 43093685 AGA - 45987 deletion NM_007294.3(BRCA1):c.1854delG (p.Arg618Serfs) 397507193 MedGen:C2676676,OMIM:604370 17 41245694 41245694 C - 45987 deletion NM_007294.3(BRCA1):c.1854delG (p.Arg618Serfs) 397507193 MedGen:C2676676,OMIM:604370 17 43093677 43093677 C - 45988 insertion NM_007294.3(BRCA1):c.1877_1878ins4 80357516 MedGen:C2676676,OMIM:604370 17 41245670 41245671 na na 45988 insertion NM_007294.3(BRCA1):c.1877_1878ins4 80357516 MedGen:C2676676,OMIM:604370 17 43093653 43093654 na na 45989 single nucleotide variant NM_007294.3(BRCA1):c.1912G>A (p.Glu638Lys) 80357005 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245636 41245636 C T 45989 single nucleotide variant NM_007294.3(BRCA1):c.1912G>A (p.Glu638Lys) 80357005 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093619 43093619 C T 45990 duplication NM_007294.3(BRCA1):c.1921dupA (p.Ile641Asnfs) 397507194 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41245627 41245627 T TT 45990 duplication NM_007294.3(BRCA1):c.1921dupA (p.Ile641Asnfs) 397507194 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43093610 43093610 T TT 45991 deletion NM_007294.3(BRCA1):c.1953_1956delGAAA (p.Lys653Serfs) 80357526 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41245592 41245595 TTTC - 45991 deletion NM_007294.3(BRCA1):c.1953_1956delGAAA (p.Lys653Serfs) 80357526 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43093575 43093578 TTTC - 45992 single nucleotide variant NM_007294.3(BRCA1):c.1960A>T (p.Lys654Ter) 80357355 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41245588 41245588 T A 45992 single nucleotide variant NM_007294.3(BRCA1):c.1960A>T (p.Lys654Ter) 80357355 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43093571 43093571 T A 45994 deletion NM_007294.3(BRCA1):c.1961delA (p.Lys654Serfs) 80357522 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41245587 41245587 T - 45994 deletion NM_007294.3(BRCA1):c.1961delA (p.Lys654Serfs) 80357522 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43093570 43093570 T - 45995 deletion NM_007294.3(BRCA1):c.1972delA (p.Met658Cysfs) 397507195 MedGen:C2676676,OMIM:604370 17 41245576 41245576 T - 45995 deletion NM_007294.3(BRCA1):c.1972delA (p.Met658Cysfs) 397507195 MedGen:C2676676,OMIM:604370 17 43093559 43093559 T - 46119 single nucleotide variant NM_007294.3(BRCA1):c.4075C>G (p.Gln1359Glu) 80357456 MedGen:C2676676,OMIM:604370 17 43091456 43091456 G C 45996 single nucleotide variant NM_007294.3(BRCA1):c.19C>T (p.Arg7Cys) 80356994 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41276095 41276095 G A 45996 single nucleotide variant NM_007294.3(BRCA1):c.19C>T (p.Arg7Cys) 80356994 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43124078 43124078 G A 45997 single nucleotide variant NM_007294.3(BRCA1):c.2002C>T (p.Leu668Phe) 80357250 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245546 41245546 G A 45997 single nucleotide variant NM_007294.3(BRCA1):c.2002C>T (p.Leu668Phe) 80357250 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093529 43093529 G A 45998 single nucleotide variant NM_007294.3(BRCA1):c.2006T>C (p.Met669Thr) 80356895 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245542 41245542 A G 45998 single nucleotide variant NM_007294.3(BRCA1):c.2006T>C (p.Met669Thr) 80356895 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093525 43093525 A G 45999 single nucleotide variant NM_007294.3(BRCA1):c.2060A>C (p.Gln687Pro) 28897680 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245488 41245488 T G 45999 single nucleotide variant NM_007294.3(BRCA1):c.2060A>C (p.Gln687Pro) 28897680 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093471 43093471 T G 46000 deletion NM_007294.3(BRCA1):c.2071delA (p.Arg691Aspfs) 80357688 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41245477 41245477 T - 46000 deletion NM_007294.3(BRCA1):c.2071delA (p.Arg691Aspfs) 80357688 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43093460 43093460 T - 46001 duplication NM_007294.3(BRCA1):c.2105dupT (p.Leu702Phefs) 80357880 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41245443 41245443 A AA 46001 duplication NM_007294.3(BRCA1):c.2105dupT (p.Leu702Phefs) 80357880 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43093426 43093426 A AA 46002 single nucleotide variant NM_007294.3(BRCA1):c.212+1G>A 80358042 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258472 41258472 C T 46002 single nucleotide variant NM_007294.3(BRCA1):c.212+1G>A 80358042 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106455 43106455 C T 46003 single nucleotide variant NM_007294.3(BRCA1):c.2123C>A (p.Ser708Tyr) 80357182 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245425 41245425 G T 46003 single nucleotide variant NM_007294.3(BRCA1):c.2123C>A (p.Ser708Tyr) 80357182 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093408 43093408 G T 46004 insertion NM_007294.3(BRCA1):c.2125_2126ins3 80357871 MedGen:C2676676,OMIM:604370 17 41245422 41245423 na na 46004 insertion NM_007294.3(BRCA1):c.2125_2126ins3 80357871 MedGen:C2676676,OMIM:604370 17 43093405 43093406 na na 46005 single nucleotide variant NM_007294.3(BRCA1):c.213-11T>G 80358061 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41256984 41256984 A C 46005 single nucleotide variant NM_007294.3(BRCA1):c.213-11T>G 80358061 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43104967 43104967 A C 46006 single nucleotide variant NM_007294.3(BRCA1):c.213-12A>G 80358163 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41256985 41256985 T C 46006 single nucleotide variant NM_007294.3(BRCA1):c.213-12A>G 80358163 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43104968 43104968 T C 46007 single nucleotide variant NM_007294.3(BRCA1):c.2138C>G (p.Ser713Ter) 80357233 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41245410 41245410 G C 46007 single nucleotide variant NM_007294.3(BRCA1):c.2138C>G (p.Ser713Ter) 80357233 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43093393 43093393 G C 46008 single nucleotide variant NM_007294.3(BRCA1):c.2155A>G (p.Lys719Glu) 80357147 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245393 41245393 T C 46008 single nucleotide variant NM_007294.3(BRCA1):c.2155A>G (p.Lys719Glu) 80357147 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093376 43093376 T C 46009 single nucleotide variant NM_007294.3(BRCA1):c.2158G>T (p.Glu720Ter) 80356875 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245390 41245390 C A 46009 single nucleotide variant NM_007294.3(BRCA1):c.2158G>T (p.Glu720Ter) 80356875 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093373 43093373 C A 46010 single nucleotide variant NM_007294.3(BRCA1):c.2167A>G (p.Asn723Asp) 4986845 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;Human Phenotype Ontology:HP:0012125,MedGen:CN167851;MedGen:CN169374 17 41245381 41245381 T C 46010 single nucleotide variant NM_007294.3(BRCA1):c.2167A>G (p.Asn723Asp) 4986845 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;Human Phenotype Ontology:HP:0012125,MedGen:CN167851;MedGen:CN169374 17 43093364 43093364 T C 46011 single nucleotide variant NM_007294.3(BRCA1):c.2207A>C (p.Glu736Ala) 397507196 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245341 41245341 T G 46011 single nucleotide variant NM_007294.3(BRCA1):c.2207A>C (p.Glu736Ala) 397507196 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093324 43093324 T G 46012 deletion NM_007294.3(BRCA1):c.2210_2211delCA (p.Thr737Serfs) 80357654 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41245337 41245338 TG - 46012 deletion NM_007294.3(BRCA1):c.2210_2211delCA (p.Thr737Serfs) 80357654 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43093320 43093321 TG - 46013 duplication NM_007294.3(BRCA1):c.2214_2215insTT (p.Lys739Leufs) 397507197 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41245334 41245335 AA AAAA 46013 duplication NM_007294.3(BRCA1):c.2214_2215insTT (p.Lys739Leufs) 397507197 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43093317 43093318 AA AAAA 46015 deletion NM_007294.3(BRCA1):c.2269delG (p.Val757Phefs) 80357583 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245279 41245279 C - 46015 deletion NM_007294.3(BRCA1):c.2269delG (p.Val757Phefs) 80357583 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093262 43093262 C - 46016 single nucleotide variant NM_007294.3(BRCA1):c.2281G>A (p.Glu761Lys) 397507198 MedGen:C2676676,OMIM:604370 17 41245267 41245267 C T 46016 single nucleotide variant NM_007294.3(BRCA1):c.2281G>A (p.Glu761Lys) 397507198 MedGen:C2676676,OMIM:604370 17 43093250 43093250 C T 46017 single nucleotide variant NM_007294.3(BRCA1):c.2299A>G (p.Ser767Gly) 80357194 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245249 41245249 T C 46017 single nucleotide variant NM_007294.3(BRCA1):c.2299A>G (p.Ser767Gly) 80357194 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093232 43093232 T C 46018 deletion NM_007294.3(BRCA1):c.2299delA (p.Ser767Alafs) 80357786 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245249 41245249 T - 46018 deletion NM_007294.3(BRCA1):c.2299delA (p.Ser767Alafs) 80357786 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093232 43093232 T - 46019 single nucleotide variant NM_007294.3(BRCA1):c.2329T>G (p.Tyr777Asp) 397507199 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41245219 41245219 A C 46019 single nucleotide variant NM_007294.3(BRCA1):c.2329T>G (p.Tyr777Asp) 397507199 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43093202 43093202 A C 46020 single nucleotide variant NM_007294.3(BRCA1):c.2351C>T (p.Ser784Leu) 55914168 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245197 41245197 G A 46020 single nucleotide variant NM_007294.3(BRCA1):c.2351C>T (p.Ser784Leu) 55914168 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093180 43093180 G A 46021 single nucleotide variant NM_007294.3(BRCA1):c.2368A>G (p.Thr790Ala) 41286298 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245180 41245180 T C 46021 single nucleotide variant NM_007294.3(BRCA1):c.2368A>G (p.Thr790Ala) 41286298 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093163 43093163 T C 46022 deletion NM_007294.3(BRCA1):c.2411_2412delAG (p.Gln804Leufs) 80357664 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41245136 41245137 CT - 46022 deletion NM_007294.3(BRCA1):c.2411_2412delAG (p.Gln804Leufs) 80357664 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43093119 43093120 CT - 46023 deletion NM_007294.3(BRCA1):c.2424delT (p.Phe808Leufs) 397507200 MedGen:C2676676,OMIM:604370 17 41245124 41245124 A - 46023 deletion NM_007294.3(BRCA1):c.2424delT (p.Phe808Leufs) 397507200 MedGen:C2676676,OMIM:604370 17 43093107 43093107 A - 46024 single nucleotide variant NM_007294.3(BRCA1):c.2426A>G (p.Glu809Gly) 397507201 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245122 41245122 T C 46024 single nucleotide variant NM_007294.3(BRCA1):c.2426A>G (p.Glu809Gly) 397507201 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093105 43093105 T C 46025 deletion NM_007294.3(BRCA1):c.2433delC (p.Lys812Argfs) 80357524 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41245115 41245115 G - 46025 deletion NM_007294.3(BRCA1):c.2433delC (p.Lys812Argfs) 80357524 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43093098 43093098 G - 46026 single nucleotide variant NM_007294.3(BRCA1):c.2447A>G (p.His816Arg) 80357108 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245101 41245101 T C 46026 single nucleotide variant NM_007294.3(BRCA1):c.2447A>G (p.His816Arg) 80357108 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093084 43093084 T C 46027 deletion NM_007294.3(BRCA1):c.2457delC (p.Asp821Ilefs) 80357669 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41245091 41245091 G - 46027 deletion NM_007294.3(BRCA1):c.2457delC (p.Asp821Ilefs) 80357669 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43093074 43093074 G - 46028 deletion NM_007294.3(BRCA1):c.2475delC (p.Asp825Glufs) 80357970 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41245073 41245073 G - 46028 deletion NM_007294.3(BRCA1):c.2475delC (p.Asp825Glufs) 80357970 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43093056 43093056 G - 46029 single nucleotide variant NM_007294.3(BRCA1):c.2477C>A (p.Thr826Lys) 28897683 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245071 41245071 G T 46029 single nucleotide variant NM_007294.3(BRCA1):c.2477C>A (p.Thr826Lys) 28897683 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093054 43093054 G T 46030 deletion NM_007294.3(BRCA1):c.2515delC (p.His839Thrfs) 80357607 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41245033 41245033 G - 46030 deletion NM_007294.3(BRCA1):c.2515delC (p.His839Thrfs) 80357607 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43093016 43093016 G - 46031 single nucleotide variant NM_007294.3(BRCA1):c.2563C>T (p.Gln855Ter) 80357131 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244985 41244985 G A 46031 single nucleotide variant NM_007294.3(BRCA1):c.2563C>T (p.Gln855Ter) 80357131 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092968 43092968 G A 46032 single nucleotide variant NM_007294.3(BRCA1):c.2584A>G (p.Lys862Glu) 80356927 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244964 41244964 T C 46032 single nucleotide variant NM_007294.3(BRCA1):c.2584A>G (p.Lys862Glu) 80356927 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092947 43092947 T C 46033 single nucleotide variant NM_007294.3(BRCA1):c.2603C>G (p.Ser868Ter) 80356925 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41244945 41244945 G C 46033 single nucleotide variant NM_007294.3(BRCA1):c.2603C>G (p.Ser868Ter) 80356925 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43092928 43092928 G C 46034 single nucleotide variant NM_007294.3(BRCA1):c.2635G>T (p.Glu879Ter) 80357251 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN221809 17 41244913 41244913 C A 46034 single nucleotide variant NM_007294.3(BRCA1):c.2635G>T (p.Glu879Ter) 80357251 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN221809 17 43092896 43092896 C A 46035 single nucleotide variant NM_007294.3(BRCA1):c.2669G>T (p.Gly890Val) 80356874 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244879 41244879 C A 46035 single nucleotide variant NM_007294.3(BRCA1):c.2669G>T (p.Gly890Val) 80356874 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092862 43092862 C A 46036 single nucleotide variant NM_007294.3(BRCA1):c.2677A>T (p.Lys893Ter) 80357170 MedGen:C2676676,OMIM:604370 17 41244871 41244871 T A 46036 single nucleotide variant NM_007294.3(BRCA1):c.2677A>T (p.Lys893Ter) 80357170 MedGen:C2676676,OMIM:604370 17 43092854 43092854 T A 46037 deletion NM_007294.3(BRCA1):c.2679_2682delGAAA (p.Lys893Asnfs) 80357596 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41244866 41244869 TTTC - 46037 deletion NM_007294.3(BRCA1):c.2679_2682delGAAA (p.Lys893Asnfs) 80357596 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43092849 43092852 TTTC - 46038 single nucleotide variant NM_007294.3(BRCA1):c.2702T>C (p.Phe901Ser) 397507202 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41244846 41244846 A G 46038 single nucleotide variant NM_007294.3(BRCA1):c.2702T>C (p.Phe901Ser) 397507202 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43092829 43092829 A G 46039 duplication NM_007294.3(BRCA1):c.2707_2708insAT (p.Cys903Tyrfs) 80357717 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41244841 41244842 AT ATAT 46039 duplication NM_007294.3(BRCA1):c.2707_2708insAT (p.Cys903Tyrfs) 80357717 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43092824 43092825 AT ATAT 46040 single nucleotide variant NM_007294.3(BRCA1):c.2710G>T (p.Glu904Ter) 80357035 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244838 41244838 C A 46040 single nucleotide variant NM_007294.3(BRCA1):c.2710G>T (p.Glu904Ter) 80357035 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092821 43092821 C A 46041 single nucleotide variant NM_007294.3(BRCA1):c.2714A>G (p.Gln905Arg) 397507203 MedGen:C2676676,OMIM:604370 17 41244834 41244834 T C 46041 single nucleotide variant NM_007294.3(BRCA1):c.2714A>G (p.Gln905Arg) 397507203 MedGen:C2676676,OMIM:604370 17 43092817 43092817 T C 46042 single nucleotide variant NM_007294.3(BRCA1):c.2726A>T (p.Asn909Ile) 80357127 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244822 41244822 T A 46042 single nucleotide variant NM_007294.3(BRCA1):c.2726A>T (p.Asn909Ile) 80357127 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092805 43092805 T A 46043 single nucleotide variant NM_007294.3(BRCA1):c.2735A>G (p.Lys912Arg) 397507204 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244813 41244813 T C 46043 single nucleotide variant NM_007294.3(BRCA1):c.2735A>G (p.Lys912Arg) 397507204 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092796 43092796 T C 46044 single nucleotide variant NM_007294.3(BRCA1):c.2758G>A (p.Val920Ile) 80357361 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41244790 41244790 C T 46044 single nucleotide variant NM_007294.3(BRCA1):c.2758G>A (p.Val920Ile) 80357361 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43092773 43092773 C T 46045 single nucleotide variant NM_007294.3(BRCA1):c.2773A>C (p.Ile925Leu) 4986847 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244775 41244775 T G 46045 single nucleotide variant NM_007294.3(BRCA1):c.2773A>C (p.Ile925Leu) 4986847 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092758 43092758 T G 46046 single nucleotide variant NM_007294.3(BRCA1):c.2798G>A (p.Gly933Asp) 80356941 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 41244750 41244750 C T 46046 single nucleotide variant NM_007294.3(BRCA1):c.2798G>A (p.Gly933Asp) 80356941 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 43092733 43092733 C T 46047 deletion NM_007294.3(BRCA1):c.2806_2809delGATA (p.Asp936Serfs) 80357832 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41244739 41244742 TATC - 46047 deletion NM_007294.3(BRCA1):c.2806_2809delGATA (p.Asp936Serfs) 80357832 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43092722 43092725 TATC - 46048 insertion NM_007294.3(BRCA1):c.2864_2865insT (p.Ser956Ilefs) 397507205 MedGen:C2676676,OMIM:604370 17 41244683 41244684 - A 46048 insertion NM_007294.3(BRCA1):c.2864_2865insT (p.Ser956Ilefs) 397507205 MedGen:C2676676,OMIM:604370 17 43092666 43092667 - A 46049 single nucleotide variant NM_007294.3(BRCA1):c.2934T>G (p.Tyr978Ter) 80357115 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41244614 41244614 A C 46049 single nucleotide variant NM_007294.3(BRCA1):c.2934T>G (p.Tyr978Ter) 80357115 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43092597 43092597 A C 46050 single nucleotide variant NM_007294.3(BRCA1):c.2963C>T (p.Ser988Leu) 397507206 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 41244585 41244585 G A 46050 single nucleotide variant NM_007294.3(BRCA1):c.2963C>T (p.Ser988Leu) 397507206 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 43092568 43092568 G A 46051 deletion NM_007294.3(BRCA1):c.2981_2982delGT (p.Cys994Terfs) 397507207 MedGen:C2676676,OMIM:604370 17 41244566 41244567 AC - 46051 deletion NM_007294.3(BRCA1):c.2981_2982delGT (p.Cys994Terfs) 397507207 MedGen:C2676676,OMIM:604370 17 43092549 43092550 AC - 46055 single nucleotide variant NM_007294.3(BRCA1):c.301+7G>A 80358113 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 41256878 41256878 C T 46055 single nucleotide variant NM_007294.3(BRCA1):c.301+7G>A 80358113 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 43104861 43104861 C T 46056 single nucleotide variant NM_007294.3(BRCA1):c.302-2A>C 80358011 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256280 41256280 T G 46056 single nucleotide variant NM_007294.3(BRCA1):c.302-2A>C 80358011 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104263 43104263 T G 46057 single nucleotide variant NM_007294.3(BRCA1):c.302-3C>G 80358051 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41256281 41256281 G C 46057 single nucleotide variant NM_007294.3(BRCA1):c.302-3C>G 80358051 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43104264 43104264 G C 46058 deletion NM_007294.3(BRCA1):c.3037_3038delGA (p.Glu1013Asnfs) 397507208 MedGen:C2676676,OMIM:604370 17 41244510 41244511 TC - 46058 deletion NM_007294.3(BRCA1):c.3037_3038delGA (p.Glu1013Asnfs) 397507208 MedGen:C2676676,OMIM:604370 17 43092493 43092494 TC - 46059 insertion NM_007294.3(BRCA1):c.3052_3053ins5 80357856 MedGen:C2676676,OMIM:604370 17 41244495 41244496 na na 46059 insertion NM_007294.3(BRCA1):c.3052_3053ins5 80357856 MedGen:C2676676,OMIM:604370 17 43092478 43092479 na na 46060 single nucleotide variant NM_007294.3(BRCA1):c.3055A>G (p.Ile1019Val) 80357311 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244493 41244493 T C 46060 single nucleotide variant NM_007294.3(BRCA1):c.3055A>G (p.Ile1019Val) 80357311 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092476 43092476 T C 46061 single nucleotide variant NM_007294.3(BRCA1):c.305C>G (p.Ala102Gly) 80357190 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41256275 41256275 G C 46061 single nucleotide variant NM_007294.3(BRCA1):c.305C>G (p.Ala102Gly) 80357190 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43104258 43104258 G C 46062 single nucleotide variant NM_007294.3(BRCA1):c.3082C>T (p.Arg1028Cys) 80357049 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244466 41244466 G A 46062 single nucleotide variant NM_007294.3(BRCA1):c.3082C>T (p.Arg1028Cys) 80357049 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092449 43092449 G A 46063 single nucleotide variant NM_007294.3(BRCA1):c.3083G>A (p.Arg1028His) 80357459 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244465 41244465 C T 46063 single nucleotide variant NM_007294.3(BRCA1):c.3083G>A (p.Arg1028His) 80357459 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092448 43092448 C T 46065 single nucleotide variant NM_007294.3(BRCA1):c.3112G>T (p.Glu1038Ter) 80357161 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244436 41244436 C A 46065 single nucleotide variant NM_007294.3(BRCA1):c.3112G>T (p.Glu1038Ter) 80357161 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092419 43092419 C A 46066 single nucleotide variant NM_007294.3(BRCA1):c.3130A>G (p.Ile1044Val) 80357271 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244418 41244418 T C 46066 single nucleotide variant NM_007294.3(BRCA1):c.3130A>G (p.Ile1044Val) 80357271 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092401 43092401 T C 46067 insertion NM_007294.3(BRCA1):c.3164_3165ins4 587777910 MedGen:C2676676,OMIM:604370 17 41244383 41244384 na na 46067 insertion NM_007294.3(BRCA1):c.3164_3165ins4 587777910 MedGen:C2676676,OMIM:604370 17 43092366 43092367 na na 46068 deletion NM_007294.3(BRCA1):c.3174delT (p.Asn1059Metfs) 397507210 MedGen:C2676676,OMIM:604370 17 41244374 41244374 A - 46068 deletion NM_007294.3(BRCA1):c.3174delT (p.Asn1059Metfs) 397507210 MedGen:C2676676,OMIM:604370 17 43092357 43092357 A - 46069 single nucleotide variant NM_007294.3(BRCA1):c.3185G>T (p.Gly1062Val) 397507211 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41244363 41244363 C A 46069 single nucleotide variant NM_007294.3(BRCA1):c.3185G>T (p.Gly1062Val) 397507211 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43092346 43092346 C A 46071 single nucleotide variant NM_007294.3(BRCA1):c.3209C>G (p.Ala1070Gly) 397507212 MedGen:C2676676,OMIM:604370 17 41244339 41244339 G C 46071 single nucleotide variant NM_007294.3(BRCA1):c.3209C>G (p.Ala1070Gly) 397507212 MedGen:C2676676,OMIM:604370 17 43092322 43092322 G C 46072 deletion NM_007294.3(BRCA1):c.3228_3229delAG (p.Gly1077Alafs) 80357635 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41244319 41244320 CT - 46072 deletion NM_007294.3(BRCA1):c.3228_3229delAG (p.Gly1077Alafs) 80357635 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43092302 43092303 CT - 46073 single nucleotide variant NM_007294.3(BRCA1):c.3247A>C (p.Met1083Leu) 397507213 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41244301 41244301 T G 46073 single nucleotide variant NM_007294.3(BRCA1):c.3247A>C (p.Met1083Leu) 397507213 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43092284 43092284 T G 46077 deletion NM_007294.3(BRCA1):c.329delA (p.Lys110Argfs) 397507214 MedGen:C2676676,OMIM:604370 17 41256251 41256251 T - 46077 deletion NM_007294.3(BRCA1):c.329delA (p.Lys110Argfs) 397507214 MedGen:C2676676,OMIM:604370 17 43104234 43104234 T - 46078 single nucleotide variant NM_007294.3(BRCA1):c.3327A>C (p.Lys1109Asn) 41293449 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41244221 41244221 T G 46078 single nucleotide variant NM_007294.3(BRCA1):c.3327A>C (p.Lys1109Asn) 41293449 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43092204 43092204 T G 46079 deletion NM_007294.3(BRCA1):c.3331_3334delCAAG (p.Gln1111Asnfs) 80357701 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41244214 41244217 CTTG - 46079 deletion NM_007294.3(BRCA1):c.3331_3334delCAAG (p.Gln1111Asnfs) 80357701 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43092197 43092200 CTTG - 46080 single nucleotide variant NM_007294.3(BRCA1):c.3352C>T (p.Gln1118Ter) 397507215 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41244196 41244196 G A 46080 single nucleotide variant NM_007294.3(BRCA1):c.3352C>T (p.Gln1118Ter) 397507215 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43092179 43092179 G A 46081 single nucleotide variant NM_007294.3(BRCA1):c.3354G>T (p.Gln1118His) 80357334 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244194 41244194 C A 46081 single nucleotide variant NM_007294.3(BRCA1):c.3354G>T (p.Gln1118His) 80357334 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092177 43092177 C A 46082 deletion NM_007294.3(BRCA1):c.3358_3359delGT (p.Val1120Terfs) 80357945 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244189 41244190 AC - 46082 deletion NM_007294.3(BRCA1):c.3358_3359delGT (p.Val1120Terfs) 80357945 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092172 43092173 AC - 46083 single nucleotide variant NM_007294.3(BRCA1):c.3362A>G (p.Asn1121Ser) 80356919 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41244186 41244186 T C 46083 single nucleotide variant NM_007294.3(BRCA1):c.3362A>G (p.Asn1121Ser) 80356919 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43092169 43092169 T C 46084 single nucleotide variant NM_007294.3(BRCA1):c.3389C>G (p.Ser1130Ter) 80357405 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41244159 41244159 G C 46084 single nucleotide variant NM_007294.3(BRCA1):c.3389C>G (p.Ser1130Ter) 80357405 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43092142 43092142 G C 46085 single nucleotide variant NM_007294.3(BRCA1):c.3400G>T (p.Glu1134Ter) 80357018 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN221809 17 41244148 41244148 C A 46085 single nucleotide variant NM_007294.3(BRCA1):c.3400G>T (p.Glu1134Ter) 80357018 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN221809 17 43092131 43092131 C A 46086 deletion NM_007294.3(BRCA1):c.3442delG (p.Glu1148Argfs) 80357808 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244106 41244106 C - 46086 deletion NM_007294.3(BRCA1):c.3442delG (p.Glu1148Argfs) 80357808 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092089 43092089 C - 46087 deletion NM_007294.3(BRCA1):c.3485delA (p.Asp1162Valfs) 80357509 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41244063 41244063 T - 46087 deletion NM_007294.3(BRCA1):c.3485delA (p.Asp1162Valfs) 80357509 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43092046 43092046 T - 46088 deletion NM_007294.3(BRCA1):c.3503delA (p.Asn1168Metfs) 397507216 MedGen:C2676676,OMIM:604370 17 41244045 41244045 T - 46088 deletion NM_007294.3(BRCA1):c.3503delA (p.Asn1168Metfs) 397507216 MedGen:C2676676,OMIM:604370 17 43092028 43092028 T - 46089 deletion NM_007294.3(BRCA1):c.3612delA (p.Ala1206Profs) 80357980 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41243936 41243936 T - 46089 deletion NM_007294.3(BRCA1):c.3612delA (p.Ala1206Profs) 80357980 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43091919 43091919 T - 46090 duplication NM_007294.3(BRCA1):c.3627dupA (p.Glu1210Argfs) 80357729 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41243921 41243921 T TT 46090 duplication NM_007294.3(BRCA1):c.3627dupA (p.Glu1210Argfs) 80357729 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43091904 43091904 T TT 46091 duplication NM_007294.3(BRCA1):c.3648dupA (p.Ser1217Ilefs) 80357902 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41243900 41243900 T TT 46091 duplication NM_007294.3(BRCA1):c.3648dupA (p.Ser1217Ilefs) 80357902 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43091883 43091883 T TT 46092 single nucleotide variant NM_007294.3(BRCA1):c.3652A>G (p.Ser1218Gly) 80356894 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41243896 41243896 T C 46092 single nucleotide variant NM_007294.3(BRCA1):c.3652A>G (p.Ser1218Gly) 80356894 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43091879 43091879 T C 46093 single nucleotide variant NM_007294.3(BRCA1):c.3657G>C (p.Glu1219Asp) 80356876 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41243891 41243891 C G 46093 single nucleotide variant NM_007294.3(BRCA1):c.3657G>C (p.Glu1219Asp) 80356876 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43091874 43091874 C G 46094 insertion NM_007294.3(BRCA1):c.3671_3672ins4 80357797 MedGen:C2676676,OMIM:604370 17 41243876 41243877 na na 46094 insertion NM_007294.3(BRCA1):c.3671_3672ins4 80357797 MedGen:C2676676,OMIM:604370 17 43091859 43091860 na na 46095 deletion NM_007294.3(BRCA1):c.3683delA (p.His1228Profs) 397507217 MedGen:C2676676,OMIM:604370 17 41243865 41243865 T - 46095 deletion NM_007294.3(BRCA1):c.3683delA (p.His1228Profs) 397507217 MedGen:C2676676,OMIM:604370 17 43091848 43091848 T - 46096 single nucleotide variant NM_007294.3(BRCA1):c.3689T>G (p.Leu1230Ter) 80357162 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243859 41243859 A C 46096 single nucleotide variant NM_007294.3(BRCA1):c.3689T>G (p.Leu1230Ter) 80357162 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091842 43091842 A C 46097 single nucleotide variant NM_007294.3(BRCA1):c.3691T>C (p.Phe1231Leu) 41293451 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41243857 41243857 A G 46097 single nucleotide variant NM_007294.3(BRCA1):c.3691T>C (p.Phe1231Leu) 41293451 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43091840 43091840 A G 46098 deletion NM_007294.3(BRCA1):c.3700_3704delGTAAA (p.Val1234Glnfs) 80357609 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41243844 41243848 TTTAC - 46098 deletion NM_007294.3(BRCA1):c.3700_3704delGTAAA (p.Val1234Glnfs) 80357609 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43091827 43091831 TTTAC - 46099 single nucleotide variant NM_007294.3(BRCA1):c.3713C>T (p.Pro1238Leu) 28897688 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41243835 41243835 G A 46099 single nucleotide variant NM_007294.3(BRCA1):c.3713C>T (p.Pro1238Leu) 28897688 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43091818 43091818 G A 46100 deletion NM_007294.3(BRCA1):c.3759_3760delTA (p.Lys1254Glufs) 80357520 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41243788 41243789 TA - 46100 deletion NM_007294.3(BRCA1):c.3759_3760delTA (p.Lys1254Glufs) 80357520 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43091771 43091772 TA - 46101 duplication NM_007294.3(BRCA1):c.3764dupA (p.Asn1255Lysfs) 80357848 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41243784 41243784 T TT 46101 duplication NM_007294.3(BRCA1):c.3764dupA (p.Asn1255Lysfs) 80357848 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43091767 43091767 T TT 46102 deletion NM_007294.3(BRCA1):c.3770_3771delAG (p.Glu1257Glyfs) 80357579 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41243777 41243778 CT - 46102 deletion NM_007294.3(BRCA1):c.3770_3771delAG (p.Glu1257Glyfs) 80357579 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43091760 43091761 CT - 46103 indel NM_007294.3(BRCA1):c.3771_3772delGGinsC (p.Glu1257Aspfs) 397507218 MedGen:C2676676,OMIM:604370 17 41243776 41243777 CC G 46103 indel NM_007294.3(BRCA1):c.3771_3772delGGinsC (p.Glu1257Aspfs) 397507218 MedGen:C2676676,OMIM:604370 17 43091759 43091760 CC G 46104 single nucleotide variant NM_007294.3(BRCA1):c.3782T>C (p.Leu1261Ser) 397507219 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41243766 41243766 A G 46104 single nucleotide variant NM_007294.3(BRCA1):c.3782T>C (p.Leu1261Ser) 397507219 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43091749 43091749 A G 46105 single nucleotide variant NM_007294.3(BRCA1):c.3823A>G (p.Ile1275Val) 80357280 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41243725 41243725 T C 46105 single nucleotide variant NM_007294.3(BRCA1):c.3823A>G (p.Ile1275Val) 80357280 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43091708 43091708 T C 46106 duplication NM_007294.3(BRCA1):c.3825dupA (p.Leu1276Ilefs) 397507220 MedGen:C2676676,OMIM:604370 17 41243723 41243723 T TT 46106 duplication NM_007294.3(BRCA1):c.3825dupA (p.Leu1276Ilefs) 397507220 MedGen:C2676676,OMIM:604370 17 43091706 43091706 T TT 46109 deletion NM_007294.3(BRCA1):c.3858_3861delTGAG (p.Ser1286Argfs) 80357842 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41243687 41243690 CTCA - 46109 deletion NM_007294.3(BRCA1):c.3858_3861delTGAG (p.Ser1286Argfs) 80357842 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43091670 43091673 CTCA - 46110 single nucleotide variant NM_007294.3(BRCA1):c.3868A>T (p.Lys1290Ter) 80357254 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243680 41243680 T A 46110 single nucleotide variant NM_007294.3(BRCA1):c.3868A>T (p.Lys1290Ter) 80357254 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091663 43091663 T A 46111 single nucleotide variant NM_007294.3(BRCA1):c.3877G>C (p.Ala1293Pro) 397507223 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41243671 41243671 C G 46111 single nucleotide variant NM_007294.3(BRCA1):c.3877G>C (p.Ala1293Pro) 397507223 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43091654 43091654 C G 46112 single nucleotide variant NM_007294.3(BRCA1):c.3937C>T (p.Gln1313Ter) 80357318 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41243611 41243611 G A 46112 single nucleotide variant NM_007294.3(BRCA1):c.3937C>T (p.Gln1313Ter) 80357318 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43091594 43091594 G A 46113 single nucleotide variant NM_007294.3(BRCA1):c.398G>A (p.Arg133His) 80357357 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41256182 41256182 C T 46113 single nucleotide variant NM_007294.3(BRCA1):c.398G>A (p.Arg133His) 80357357 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43104165 43104165 C T 46114 single nucleotide variant NM_007294.3(BRCA1):c.3991C>T (p.Gln1331Ter) 397507224 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243557 41243557 G A 46114 single nucleotide variant NM_007294.3(BRCA1):c.3991C>T (p.Gln1331Ter) 397507224 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091540 43091540 G A 46115 single nucleotide variant NM_007294.3(BRCA1):c.4015G>T (p.Glu1339Ter) 80357021 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41243533 41243533 C A 46115 single nucleotide variant NM_007294.3(BRCA1):c.4015G>T (p.Glu1339Ter) 80357021 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43091516 43091516 C A 46116 deletion NM_007294.3(BRCA1):c.4035delA (p.Glu1346Lysfs) 80357711 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41243513 41243513 T - 46116 deletion NM_007294.3(BRCA1):c.4035delA (p.Glu1346Lysfs) 80357711 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43091496 43091496 T - 46117 single nucleotide variant NM_007294.3(BRCA1):c.4036G>A (p.Glu1346Lys) 80357407 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41243512 41243512 C T 46117 single nucleotide variant NM_007294.3(BRCA1):c.4036G>A (p.Glu1346Lys) 80357407 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43091495 43091495 C T 46118 single nucleotide variant NM_007294.3(BRCA1):c.4073A>G (p.Glu1358Gly) 397507225 MedGen:C2676676,OMIM:604370 17 41243475 41243475 T C 46118 single nucleotide variant NM_007294.3(BRCA1):c.4073A>G (p.Glu1358Gly) 397507225 MedGen:C2676676,OMIM:604370 17 43091458 43091458 T C 46120 single nucleotide variant NM_007294.3(BRCA1):c.4083G>A (p.Met1361Ile) 374192364 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41243465 41243465 C T 46120 single nucleotide variant NM_007294.3(BRCA1):c.4083G>A (p.Met1361Ile) 374192364 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43091448 43091448 C T 46121 single nucleotide variant NM_007294.3(BRCA1):c.4096+1G>A 80358178 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41243451 41243451 C T 46121 single nucleotide variant NM_007294.3(BRCA1):c.4096+1G>A 80358178 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43091434 43091434 C T 46122 single nucleotide variant NM_007294.3(BRCA1):c.4096+3A>G 80358015 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41243449 41243449 T C 46122 single nucleotide variant NM_007294.3(BRCA1):c.4096+3A>G 80358015 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43091432 43091432 T C 46123 single nucleotide variant NM_007294.3(BRCA1):c.4097-1G>A 80358070 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243050 41243050 C T 46123 single nucleotide variant NM_007294.3(BRCA1):c.4097-1G>A 80358070 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091033 43091033 C T 46124 deletion NM_007294.3(BRCA1):c.4116_4117delTG (p.Cys1372Terfs) 80357804 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243029 41243030 CA - 46124 deletion NM_007294.3(BRCA1):c.4116_4117delTG (p.Cys1372Terfs) 80357804 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091012 43091013 CA - 46125 single nucleotide variant NM_007294.3(BRCA1):c.4117G>T (p.Glu1373Ter) 80357259 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41243029 41243029 C A 46125 single nucleotide variant NM_007294.3(BRCA1):c.4117G>T (p.Glu1373Ter) 80357259 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43091012 43091012 C A 46126 deletion NM_007294.3(BRCA1):c.4120_4121delAG (p.Ser1374Terfs) 80357787 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41243025 41243026 CT - 46126 deletion NM_007294.3(BRCA1):c.4120_4121delAG (p.Ser1374Terfs) 80357787 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43091008 43091009 CT - 46127 single nucleotide variant NM_007294.3(BRCA1):c.4127C>G (p.Thr1376Arg) 80356986 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41243019 41243019 G C 46127 single nucleotide variant NM_007294.3(BRCA1):c.4127C>G (p.Thr1376Arg) 80356986 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43091002 43091002 G C 46128 single nucleotide variant NM_007294.3(BRCA1):c.4148C>G (p.Ser1383Ter) 80357071 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41242998 41242998 G C 46128 single nucleotide variant NM_007294.3(BRCA1):c.4148C>G (p.Ser1383Ter) 80357071 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43090981 43090981 G C 46129 single nucleotide variant NM_007294.3(BRCA1):c.4181C>T (p.Thr1394Ile) 397507226 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41242965 41242965 G A 46129 single nucleotide variant NM_007294.3(BRCA1):c.4181C>T (p.Thr1394Ile) 397507226 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43090948 43090948 G A 46130 indel NM_007294.3(BRCA1):c.4185+2_4185+22del21insA 273900724 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41242939 41242959 na T 46130 indel NM_007294.3(BRCA1):c.4185+2_4185+22del21insA 273900724 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43090922 43090942 na T 46131 single nucleotide variant NM_007294.3(BRCA1):c.4213A>G (p.Ile1405Val) 80357353 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41234565 41234565 T C 46131 single nucleotide variant NM_007294.3(BRCA1):c.4213A>G (p.Ile1405Val) 80357353 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43082548 43082548 T C 46134 deletion NM_007294.3(BRCA1):c.4243delG (p.Glu1415Lysfs) 80357981 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41234535 41234535 C - 46134 deletion NM_007294.3(BRCA1):c.4243delG (p.Glu1415Lysfs) 80357981 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43082518 43082518 C - 46135 deletion NM_007294.3(BRCA1):c.4251_4252delGT (p.Leu1418Argfs) 80357977 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41234526 41234527 AC - 46135 deletion NM_007294.3(BRCA1):c.4251_4252delGT (p.Leu1418Argfs) 80357977 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43082509 43082510 AC - 46136 single nucleotide variant NM_007294.3(BRCA1):c.427G>A (p.Glu143Lys) 80356991 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41256153 41256153 C T 46136 single nucleotide variant NM_007294.3(BRCA1):c.427G>A (p.Glu143Lys) 80356991 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43104136 43104136 C T 46137 single nucleotide variant NM_007294.3(BRCA1):c.427G>T (p.Glu143Ter) 80356991 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41256153 41256153 C A 46137 single nucleotide variant NM_007294.3(BRCA1):c.427G>T (p.Glu143Ter) 80356991 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43104136 43104136 C A 46138 single nucleotide variant NM_007294.3(BRCA1):c.429A>C (p.Glu143Asp) 397507228 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41256151 41256151 T G 46138 single nucleotide variant NM_007294.3(BRCA1):c.429A>C (p.Glu143Asp) 397507228 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43104134 43104134 T G 46139 single nucleotide variant NM_007294.3(BRCA1):c.42C>A (p.Val14=) 80356827 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41276072 41276072 G T 46139 single nucleotide variant NM_007294.3(BRCA1):c.42C>A (p.Val14=) 80356827 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43124055 43124055 G T 46140 single nucleotide variant NM_007294.3(BRCA1):c.4357+1G>A 80358027 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41234420 41234420 C T 46140 single nucleotide variant NM_007294.3(BRCA1):c.4357+1G>A 80358027 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43082403 43082403 C T 46141 single nucleotide variant NM_007294.3(BRCA1):c.4357+6T>C 80358143 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234415 41234415 A G 46141 single nucleotide variant NM_007294.3(BRCA1):c.4357+6T>C 80358143 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082398 43082398 A G 46142 deletion NM_007294.3(BRCA1):c.4387delT (p.Tyr1463Thrfs) 397507229 MedGen:C2676676,OMIM:604370 17 41228602 41228602 A - 46142 deletion NM_007294.3(BRCA1):c.4387delT (p.Tyr1463Thrfs) 397507229 MedGen:C2676676,OMIM:604370 17 43076585 43076585 A - 46143 insertion NM_007294.3(BRCA1):c.4388_4389ins7 587777911 MedGen:C2676676,OMIM:604370 17 41228600 41228601 na na 46143 insertion NM_007294.3(BRCA1):c.4388_4389ins7 587777911 MedGen:C2676676,OMIM:604370 17 43076583 43076584 na na 46144 indel NM_007294.3(BRCA1):c.4391_4393delCTAinsTT (p.Pro1464Leufs) 273900730 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41228596 41228598 TAG AA 46144 indel NM_007294.3(BRCA1):c.4391_4393delCTAinsTT (p.Pro1464Leufs) 273900730 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43076579 43076581 TAG AA 46145 deletion NM_007294.3(BRCA1):c.4391delC (p.Pro1464Leufs) 80357916 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41228598 41228598 G - 46145 deletion NM_007294.3(BRCA1):c.4391delC (p.Pro1464Leufs) 80357916 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43076581 43076581 G - 46166 indel NM_007294.3(BRCA1):c.4775_4779delACATAinsC (p.Asn1592Thrfs) 397507237 MedGen:C2676676,OMIM:604370 17 41223152 41223156 TATGT G 46146 deletion NM_007294.3(BRCA1):c.4393delA (p.Ile1465Terfs) 397507230 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41228596 41228596 T - 46146 deletion NM_007294.3(BRCA1):c.4393delA (p.Ile1465Terfs) 397507230 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43076579 43076579 T - 46147 single nucleotide variant NM_007294.3(BRCA1):c.4402A>G (p.Asn1468Asp) 80357022 MedGen:C2676676,OMIM:604370 17 41228587 41228587 T C 46147 single nucleotide variant NM_007294.3(BRCA1):c.4402A>G (p.Asn1468Asp) 80357022 MedGen:C2676676,OMIM:604370 17 43076570 43076570 T C 46148 duplication NM_007294.3(BRCA1):c.4427dupA (p.Phe1477Valfs) 397507231 MedGen:C2676676,OMIM:604370 17 41228562 41228562 T TT 46148 duplication NM_007294.3(BRCA1):c.4427dupA (p.Phe1477Valfs) 397507231 MedGen:C2676676,OMIM:604370 17 43076545 43076545 T TT 46149 single nucleotide variant NM_007294.3(BRCA1):c.4456A>T (p.Ser1486Cys) 397507232 MedGen:C2676676,OMIM:604370 17 41228533 41228533 T A 46149 single nucleotide variant NM_007294.3(BRCA1):c.4456A>T (p.Ser1486Cys) 397507232 MedGen:C2676676,OMIM:604370 17 43076516 43076516 T A 46150 single nucleotide variant NM_007294.3(BRCA1):c.446A>C (p.Glu149Ala) 397507233 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41251893 41251893 T G 46150 single nucleotide variant NM_007294.3(BRCA1):c.446A>C (p.Glu149Ala) 397507233 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43099876 43099876 T G 46151 deletion NM_007294.3(BRCA1):c.4482_4483delAA (p.Arg1495Valfs) 80357854 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41228506 41228507 TT - 46151 deletion NM_007294.3(BRCA1):c.4482_4483delAA (p.Arg1495Valfs) 80357854 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43076489 43076490 TT - 46152 single nucleotide variant NM_007294.3(BRCA1):c.4484+1G>A 80358063 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41228504 41228504 C T 46152 single nucleotide variant NM_007294.3(BRCA1):c.4484+1G>A 80358063 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43076487 43076487 C T 46153 single nucleotide variant NM_007294.3(BRCA1):c.4484G>A (p.Arg1495Lys) 80357389 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41228505 41228505 C T 46153 single nucleotide variant NM_007294.3(BRCA1):c.4484G>A (p.Arg1495Lys) 80357389 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43076488 43076488 C T 46154 single nucleotide variant NM_007294.3(BRCA1):c.4484G>T (p.Arg1495Met) 80357389 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41228505 41228505 C A 46154 single nucleotide variant NM_007294.3(BRCA1):c.4484G>T (p.Arg1495Met) 80357389 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43076488 43076488 C A 46155 single nucleotide variant NM_007294.3(BRCA1):c.4485-8C>T 397507234 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41226546 41226546 G A 46155 single nucleotide variant NM_007294.3(BRCA1):c.4485-8C>T 397507234 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43074529 43074529 G A 46156 single nucleotide variant NM_007294.3(BRCA1):c.457A>C (p.Ser153Arg) 28897674 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41251882 41251882 T G 46156 single nucleotide variant NM_007294.3(BRCA1):c.457A>C (p.Ser153Arg) 28897674 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43099865 43099865 T G 46157 single nucleotide variant NM_007294.3(BRCA1):c.4638T>G (p.Asp1546Glu) 397507235 MedGen:C2676676,OMIM:604370 17 41226385 41226385 A C 46157 single nucleotide variant NM_007294.3(BRCA1):c.4638T>G (p.Asp1546Glu) 397507235 MedGen:C2676676,OMIM:604370 17 43074368 43074368 A C 46158 duplication NM_007294.3(BRCA1):c.466dupC (p.Leu156Profs) 397507236 MedGen:C2676676,OMIM:604370 17 41251873 41251873 G GG 46158 duplication NM_007294.3(BRCA1):c.466dupC (p.Leu156Profs) 397507236 MedGen:C2676676,OMIM:604370 17 43099856 43099856 G GG 46159 single nucleotide variant NM_007294.3(BRCA1):c.4675+7T>C 273900739 MedGen:C2676676,OMIM:604370 17 41226341 41226341 A G 46159 single nucleotide variant NM_007294.3(BRCA1):c.4675+7T>C 273900739 MedGen:C2676676,OMIM:604370 17 43074324 43074324 A G 46160 single nucleotide variant NM_007294.3(BRCA1):c.4675G>A (p.Glu1559Lys) 80356988 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41226348 41226348 C T 46160 single nucleotide variant NM_007294.3(BRCA1):c.4675G>A (p.Glu1559Lys) 80356988 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43074331 43074331 C T 46161 single nucleotide variant NM_007294.3(BRCA1):c.4675G>C (p.Glu1559Gln) 80356988 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41226348 41226348 C G 46161 single nucleotide variant NM_007294.3(BRCA1):c.4675G>C (p.Glu1559Gln) 80356988 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43074331 43074331 C G 46162 single nucleotide variant NM_007294.3(BRCA1):c.4676-7C>T 80358005 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 41223262 41223262 G A 46162 single nucleotide variant NM_007294.3(BRCA1):c.4676-7C>T 80358005 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 43071245 43071245 G A 46163 single nucleotide variant NM_007294.3(BRCA1):c.4689C>G (p.Tyr1563Ter) 80357433 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41223242 41223242 G C 46163 single nucleotide variant NM_007294.3(BRCA1):c.4689C>G (p.Tyr1563Ter) 80357433 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43071225 43071225 G C 46164 deletion NM_007294.3(BRCA1):c.470_471delCT (p.Ser157Terfs) 80357887 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41251868 41251869 AG - 46164 deletion NM_007294.3(BRCA1):c.470_471delCT (p.Ser157Terfs) 80357887 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43099851 43099852 AG - 46165 deletion NM_007294.3(BRCA1):c.4749_4750delAG (p.Arg1583Serfs) 80357641 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223181 41223182 CT - 46165 deletion NM_007294.3(BRCA1):c.4749_4750delAG (p.Arg1583Serfs) 80357641 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071164 43071165 CT - 46167 deletion NM_007294.3(BRCA1):c.4807_4821delCCCCAATTGAAAGTT (p.Pro1603_Val1607del) 80359888 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41223110 41223124 AACTTTCAATTGGGG - 46167 deletion NM_007294.3(BRCA1):c.4807_4821delCCCCAATTGAAAGTT (p.Pro1603_Val1607del) 80359888 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43071093 43071107 AACTTTCAATTGGGG - 46168 single nucleotide variant NM_007294.3(BRCA1):c.4816A>G (p.Lys1606Glu) 80356943 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41223115 41223115 T C 46168 single nucleotide variant NM_007294.3(BRCA1):c.4816A>G (p.Lys1606Glu) 80356943 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43071098 43071098 T C 46169 single nucleotide variant NM_007294.3(BRCA1):c.4837A>T (p.Ser1613Cys) 1799966 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41223094 41223094 T A 46169 single nucleotide variant NM_007294.3(BRCA1):c.4837A>T (p.Ser1613Cys) 1799966 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43071077 43071077 T A 46170 single nucleotide variant NM_007294.3(BRCA1):c.4868C>G (p.Ala1623Gly) 80356862 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41223063 41223063 G C 46170 single nucleotide variant NM_007294.3(BRCA1):c.4868C>G (p.Ala1623Gly) 80356862 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43071046 43071046 G C 46171 single nucleotide variant NM_007294.3(BRCA1):c.4955T>C (p.Met1652Thr) 80356968 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41222976 41222976 A G 46171 single nucleotide variant NM_007294.3(BRCA1):c.4955T>C (p.Met1652Thr) 80356968 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43070959 43070959 A G 46172 deletion NM_007294.3(BRCA1):c.4964_4982del19 (p.Ser1655Tyrfs) 80359876 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41222949 41222967 na na 46172 deletion NM_007294.3(BRCA1):c.4964_4982del19 (p.Ser1655Tyrfs) 80359876 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43070932 43070950 na na 46174 single nucleotide variant NM_007294.3(BRCA1):c.4986+1G>T 80358162 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41222944 41222944 C A 46174 single nucleotide variant NM_007294.3(BRCA1):c.4986+1G>T 80358162 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43070927 43070927 C A 46175 single nucleotide variant NM_007294.3(BRCA1):c.4986+4A>C 80358087 MedGen:C2676676,OMIM:604370 17 41222941 41222941 T G 46175 single nucleotide variant NM_007294.3(BRCA1):c.4986+4A>C 80358087 MedGen:C2676676,OMIM:604370 17 43070924 43070924 T G 46176 single nucleotide variant NM_007294.3(BRCA1):c.4986+6T>C 80358086 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41222939 41222939 A G 46176 single nucleotide variant NM_007294.3(BRCA1):c.4986+6T>C 80358086 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43070922 43070922 A G 46177 single nucleotide variant NM_007294.3(BRCA1):c.4991T>C (p.Leu1664Pro) 80357314 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41219708 41219708 A G 46177 single nucleotide variant NM_007294.3(BRCA1):c.4991T>C (p.Leu1664Pro) 80357314 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43067691 43067691 A G 46179 deletion NM_007294.3(BRCA1):c.5030_5033delCTAA (p.Thr1677Ilefs) 80357580 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41219666 41219669 TTAG - 46179 deletion NM_007294.3(BRCA1):c.5030_5033delCTAA (p.Thr1677Ilefs) 80357580 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43067649 43067652 TTAG - 46180 deletion NM_007294.3(BRCA1):c.5035_5039delCTAAT (p.Leu1679Tyrfs) 80357623 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41219660 41219664 ATTAG - 46180 deletion NM_007294.3(BRCA1):c.5035_5039delCTAAT (p.Leu1679Tyrfs) 80357623 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43067643 43067647 ATTAG - 46181 single nucleotide variant NM_007294.3(BRCA1):c.5066T>G (p.Met1689Arg) 80357061 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41219633 41219633 A C 46181 single nucleotide variant NM_007294.3(BRCA1):c.5066T>G (p.Met1689Arg) 80357061 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43067616 43067616 A C 46182 single nucleotide variant NM_007294.3(BRCA1):c.5068A>T (p.Lys1690Ter) 397507239 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41219631 41219631 T A 46182 single nucleotide variant NM_007294.3(BRCA1):c.5068A>T (p.Lys1690Ter) 397507239 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43067614 43067614 T A 46183 single nucleotide variant NM_007294.3(BRCA1):c.5072C>A (p.Thr1691Lys) 80357034 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41219627 41219627 G T 46183 single nucleotide variant NM_007294.3(BRCA1):c.5072C>A (p.Thr1691Lys) 80357034 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43067610 43067610 G T 46184 single nucleotide variant NM_007294.3(BRCA1):c.5072C>T (p.Thr1691Ile) 80357034 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41219627 41219627 G A 46184 single nucleotide variant NM_007294.3(BRCA1):c.5072C>T (p.Thr1691Ile) 80357034 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43067610 43067610 G A 46185 single nucleotide variant NM_007294.3(BRCA1):c.5074+1G>A 80358053 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41219624 41219624 C T 46185 single nucleotide variant NM_007294.3(BRCA1):c.5074+1G>A 80358053 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43067607 43067607 C T 46186 single nucleotide variant NM_007294.3(BRCA1):c.5074+1G>T 80358053 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41219624 41219624 C A 46186 single nucleotide variant NM_007294.3(BRCA1):c.5074+1G>T 80358053 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43067607 43067607 C A 46187 single nucleotide variant NM_007294.3(BRCA1):c.5074+2T>C 80358089 MedGen:C2676676,OMIM:604370 17 41219623 41219623 A G 46187 single nucleotide variant NM_007294.3(BRCA1):c.5074+2T>C 80358089 MedGen:C2676676,OMIM:604370 17 43067606 43067606 A G 46188 single nucleotide variant NM_007294.3(BRCA1):c.5074G>A (p.Asp1692Asn) 80187739 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41219625 41219625 C T 46188 single nucleotide variant NM_007294.3(BRCA1):c.5074G>A (p.Asp1692Asn) 80187739 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43067608 43067608 C T 46189 single nucleotide variant NM_007294.3(BRCA1):c.5074G>C (p.Asp1692His) 80187739 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41219625 41219625 C G 46189 single nucleotide variant NM_007294.3(BRCA1):c.5074G>C (p.Asp1692His) 80187739 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43067608 43067608 C G 46190 single nucleotide variant NM_007294.3(BRCA1):c.5075-6C>A 397507240 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 41215974 41215974 G T 46190 single nucleotide variant NM_007294.3(BRCA1):c.5075-6C>A 397507240 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 43063957 43063957 G T 46191 single nucleotide variant NM_007294.3(BRCA1):c.5090G>A (p.Cys1697Tyr) 397507241 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41215953 41215953 C T 46191 single nucleotide variant NM_007294.3(BRCA1):c.5090G>A (p.Cys1697Tyr) 397507241 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43063936 43063936 C T 46192 single nucleotide variant NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln) 41293459 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41215947 41215947 C T 46192 single nucleotide variant NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln) 41293459 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43063930 43063930 C T 46193 single nucleotide variant NM_007294.3(BRCA1):c.5114T>C (p.Leu1705Pro) 397507242 MedGen:C2676676,OMIM:604370 17 41215929 41215929 A G 46193 single nucleotide variant NM_007294.3(BRCA1):c.5114T>C (p.Leu1705Pro) 397507242 MedGen:C2676676,OMIM:604370 17 43063912 43063912 A G 46194 single nucleotide variant NM_007294.3(BRCA1):c.5117G>A (p.Gly1706Glu) 80356860 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41215926 41215926 C T 46194 single nucleotide variant NM_007294.3(BRCA1):c.5117G>A (p.Gly1706Glu) 80356860 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43063909 43063909 C T 46195 single nucleotide variant NM_007294.3(BRCA1):c.5122G>A (p.Ala1708Thr) 397507243 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41215921 41215921 C T 46195 single nucleotide variant NM_007294.3(BRCA1):c.5122G>A (p.Ala1708Thr) 397507243 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43063904 43063904 C T 46196 single nucleotide variant NM_007294.3(BRCA1):c.5123C>T (p.Ala1708Val) 28897696 MedGen:CN221562;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41215920 41215920 G A 46196 single nucleotide variant NM_007294.3(BRCA1):c.5123C>T (p.Ala1708Val) 28897696 MedGen:CN221562;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43063903 43063903 G A 46197 single nucleotide variant NM_007294.3(BRCA1):c.5152+10A>G 80358114 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 41215881 41215881 T C 46197 single nucleotide variant NM_007294.3(BRCA1):c.5152+10A>G 80358114 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 43063864 43063864 T C 46198 single nucleotide variant NM_007294.3(BRCA1):c.5152+1G>C 80358094 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145 17 41215890 41215890 C G 46198 single nucleotide variant NM_007294.3(BRCA1):c.5152+1G>C 80358094 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145 17 43063873 43063873 C G 46199 single nucleotide variant NM_007294.3(BRCA1):c.5153-1G>C 80358137 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215391 41215391 C G 46199 single nucleotide variant NM_007294.3(BRCA1):c.5153-1G>C 80358137 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063374 43063374 C G 46200 deletion NM_007294.3(BRCA1):c.5177_5180delGAAA (p.Arg1726Lysfs) 80357867 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41215363 41215366 TTTC - 46200 deletion NM_007294.3(BRCA1):c.5177_5180delGAAA (p.Arg1726Lysfs) 80357867 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43063346 43063349 TTTC - 46201 single nucleotide variant NM_007294.3(BRCA1):c.5179A>T (p.Lys1727Ter) 80357347 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41215364 41215364 T A 46201 single nucleotide variant NM_007294.3(BRCA1):c.5179A>T (p.Lys1727Ter) 80357347 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43063347 43063347 T A 46203 single nucleotide variant NM_007294.3(BRCA1):c.5194-2A>G 80358069 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41209154 41209154 T C 46203 single nucleotide variant NM_007294.3(BRCA1):c.5194-2A>G 80358069 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43057137 43057137 T C 46204 single nucleotide variant NM_007294.3(BRCA1):c.5207T>C (p.Val1736Ala) 45553935 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41209139 41209139 A G 46204 single nucleotide variant NM_007294.3(BRCA1):c.5207T>C (p.Val1736Ala) 45553935 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43057122 43057122 A G 46205 indel NM_007294.3(BRCA1):c.5232_5238delAAACCACins12 (p.?) 483353071 MedGen:C2676676,OMIM:604370 17 41209108 41209114 na na 46205 indel NM_007294.3(BRCA1):c.5232_5238delAAACCACins12 (p.?) 483353071 MedGen:C2676676,OMIM:604370 17 43057091 43057097 na na 46206 single nucleotide variant NM_007294.3(BRCA1):c.5242G>T (p.Gly1748Cys) 397507245 MedGen:C2676676,OMIM:604370 17 41209104 41209104 C A 46206 single nucleotide variant NM_007294.3(BRCA1):c.5242G>T (p.Gly1748Cys) 397507245 MedGen:C2676676,OMIM:604370 17 43057087 43057087 C A 46207 deletion NM_007294.3(BRCA1):c.5259delA (p.Glu1754Asnfs) 80357925 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41209087 41209087 T - 46207 deletion NM_007294.3(BRCA1):c.5259delA (p.Glu1754Asnfs) 80357925 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43057070 43057070 T - 46210 single nucleotide variant NM_007294.3(BRCA1):c.5277+1G>A 80358150 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41209068 41209068 C T 46210 single nucleotide variant NM_007294.3(BRCA1):c.5277+1G>A 80358150 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43057051 43057051 C T 46211 duplication NM_007294.3(BRCA1):c.5289dupG (p.Leu1764Alafs) 80357886 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41203123 41203123 C CC 46211 duplication NM_007294.3(BRCA1):c.5289dupG (p.Leu1764Alafs) 80357886 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43051106 43051106 C CC 46212 single nucleotide variant NM_007294.3(BRCA1):c.5297T>G (p.Ile1766Ser) 80357463 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41203115 41203115 A C 46212 single nucleotide variant NM_007294.3(BRCA1):c.5297T>G (p.Ile1766Ser) 80357463 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43051098 43051098 A C 46213 deletion NM_007294.3(BRCA1):c.5335delC (p.Gln1779Asnfs) 80357590 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41201209 41201209 G - 46213 deletion NM_007294.3(BRCA1):c.5335delC (p.Gln1779Asnfs) 80357590 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43049192 43049192 G - 46214 single nucleotide variant NM_007294.3(BRCA1):c.5346G>A (p.Trp1782Ter) 80357284 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41201198 41201198 C T 46214 single nucleotide variant NM_007294.3(BRCA1):c.5346G>A (p.Trp1782Ter) 80357284 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43049181 43049181 C T 46215 single nucleotide variant NM_007294.3(BRCA1):c.5348T>C (p.Met1783Thr) 55808233 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41201196 41201196 A G 46215 single nucleotide variant NM_007294.3(BRCA1):c.5348T>C (p.Met1783Thr) 55808233 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43049179 43049179 A G 46216 single nucleotide variant NM_007294.3(BRCA1):c.5363G>T (p.Gly1788Val) 80357069 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41201181 41201181 C A 46216 single nucleotide variant NM_007294.3(BRCA1):c.5363G>T (p.Gly1788Val) 80357069 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43049164 43049164 C A 46217 single nucleotide variant NM_007294.3(BRCA1):c.536A>G (p.Tyr179Cys) 56187033 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41251803 41251803 T C 46217 single nucleotide variant NM_007294.3(BRCA1):c.536A>G (p.Tyr179Cys) 56187033 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43099786 43099786 T C 46218 deletion NM_007294.3(BRCA1):c.5386delT (p.Ser1796Hisfs) 397507249 MedGen:C2676676,OMIM:604370 17 41201158 41201158 A - 46218 deletion NM_007294.3(BRCA1):c.5386delT (p.Ser1796Hisfs) 397507249 MedGen:C2676676,OMIM:604370 17 43049141 43049141 A - 46219 single nucleotide variant NM_007294.3(BRCA1):c.5387C>A (p.Ser1796Ter) 80357055 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41201157 41201157 G T 46219 single nucleotide variant NM_007294.3(BRCA1):c.5387C>A (p.Ser1796Ter) 80357055 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43049140 43049140 G T 46220 single nucleotide variant NM_007294.3(BRCA1):c.53T>C (p.Met18Thr) 80356929 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41276061 41276061 A G 46220 single nucleotide variant NM_007294.3(BRCA1):c.53T>C (p.Met18Thr) 80356929 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43124044 43124044 A G 46222 single nucleotide variant NM_007294.3(BRCA1):c.5406+1G>A 80358028 MedGen:C2676676,OMIM:604370 17 41201137 41201137 C T 46222 single nucleotide variant NM_007294.3(BRCA1):c.5406+1G>A 80358028 MedGen:C2676676,OMIM:604370 17 43049120 43049120 C T 46223 single nucleotide variant NM_007294.3(BRCA1):c.5406+5G>T 80358073 MedGen:C2676676,OMIM:604370;MedGen:CN221809 17 41201133 41201133 C A 46223 single nucleotide variant NM_007294.3(BRCA1):c.5406+5G>T 80358073 MedGen:C2676676,OMIM:604370;MedGen:CN221809 17 43049116 43049116 C A 46224 single nucleotide variant NM_007294.3(BRCA1):c.5408G>C (p.Gly1803Ala) 80357149 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41199719 41199719 C G 46224 single nucleotide variant NM_007294.3(BRCA1):c.5408G>C (p.Gly1803Ala) 80357149 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43047702 43047702 C G 46225 deletion NM_007294.3(BRCA1):c.5417delC (p.Pro1806Glnfs) 80357558 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41199710 41199710 G - 46225 deletion NM_007294.3(BRCA1):c.5417delC (p.Pro1806Glnfs) 80357558 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43047693 43047693 G - 46226 single nucleotide variant NM_007294.3(BRCA1):c.5434C>G (p.Pro1812Ala) 1800751 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41199693 41199693 G C 46226 single nucleotide variant NM_007294.3(BRCA1):c.5434C>G (p.Pro1812Ala) 1800751 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43047676 43047676 G C 46227 single nucleotide variant NM_007294.3(BRCA1):c.543A>G (p.Glu181=) 397507250 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41251796 41251796 T C 46227 single nucleotide variant NM_007294.3(BRCA1):c.543A>G (p.Glu181=) 397507250 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43099779 43099779 T C 46228 single nucleotide variant NM_007294.3(BRCA1):c.5453A>G (p.Asp1818Gly) 80357477 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41199674 41199674 T C 46228 single nucleotide variant NM_007294.3(BRCA1):c.5453A>G (p.Asp1818Gly) 80357477 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43047657 43047657 T C 46229 single nucleotide variant NM_007294.3(BRCA1):c.5467+1G>A 80358145 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41199659 41199659 C T 46229 single nucleotide variant NM_007294.3(BRCA1):c.5467+1G>A 80358145 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43047642 43047642 C T 46230 single nucleotide variant NM_007294.3(BRCA1):c.547+2T>A 80358047 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145 17 41251790 41251790 A T 46230 single nucleotide variant NM_007294.3(BRCA1):c.547+2T>A 80358047 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145 17 43099773 43099773 A T 46231 single nucleotide variant NM_007294.3(BRCA1):c.548-17G>T 80358014 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 41249323 41249323 C A 46231 single nucleotide variant NM_007294.3(BRCA1):c.548-17G>T 80358014 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 43097306 43097306 C A 46232 single nucleotide variant NM_007294.3(BRCA1):c.548-18T>G 397507251 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41249324 41249324 A C 46232 single nucleotide variant NM_007294.3(BRCA1):c.548-18T>G 397507251 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43097307 43097307 A C 46233 single nucleotide variant NM_007294.3(BRCA1):c.548-3T>C 397507252 MedGen:C2676676,OMIM:604370 17 41249309 41249309 A G 46233 single nucleotide variant NM_007294.3(BRCA1):c.548-3T>C 397507252 MedGen:C2676676,OMIM:604370 17 43097292 43097292 A G 46234 deletion NM_007294.3(BRCA1):c.548-9delA 273902774 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145 17 41249315 41249315 T - 46234 deletion NM_007294.3(BRCA1):c.548-9delA 273902774 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145 17 43097298 43097298 T - 46235 single nucleotide variant NM_007294.3(BRCA1):c.5509T>C (p.Trp1837Arg) 80356959 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41197778 41197778 A G 46235 single nucleotide variant NM_007294.3(BRCA1):c.5509T>C (p.Trp1837Arg) 80356959 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43045761 43045761 A G 46236 single nucleotide variant NM_007294.3(BRCA1):c.5511G>T (p.Trp1837Cys) 80356914 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41197776 41197776 C A 46236 single nucleotide variant NM_007294.3(BRCA1):c.5511G>T (p.Trp1837Cys) 80356914 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43045759 43045759 C A 46237 single nucleotide variant NM_007294.3(BRCA1):c.5521A>C (p.Ser1841Arg) 80357299 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41197766 41197766 T G 46237 single nucleotide variant NM_007294.3(BRCA1):c.5521A>C (p.Ser1841Arg) 80357299 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43045749 43045749 T G 46238 deletion NM_007294.3(BRCA1):c.5565_5573delACCCCAGAT (p.Gln1857_Pro1859del) 397507253 MedGen:C2676676,OMIM:604370 17 41197714 41197722 ATCTGGGGT - 46238 deletion NM_007294.3(BRCA1):c.5565_5573delACCCCAGAT (p.Gln1857_Pro1859del) 397507253 MedGen:C2676676,OMIM:604370 17 43045697 43045705 ATCTGGGGT - 46239 duplication NM_007294.3(BRCA1):c.5578dupC (p.His1860Profs) 397507254 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41197709 41197709 G GG 46239 duplication NM_007294.3(BRCA1):c.5578dupC (p.His1860Profs) 397507254 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43045692 43045692 G GG 46240 single nucleotide variant NM_007294.3(BRCA1):c.571G>A (p.Val191Ile) 80357090 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41249283 41249283 C T 46240 single nucleotide variant NM_007294.3(BRCA1):c.571G>A (p.Val191Ile) 80357090 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43097266 43097266 C T 46241 single nucleotide variant NM_007294.3(BRCA1):c.593+9A>G 80358133 MedGen:C2676676,OMIM:604370 17 41249252 41249252 T C 46241 single nucleotide variant NM_007294.3(BRCA1):c.593+9A>G 80358133 MedGen:C2676676,OMIM:604370 17 43097235 43097235 T C 46242 single nucleotide variant NM_007294.3(BRCA1):c.594-2A>C 80358033 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41247941 41247941 T G 46242 single nucleotide variant NM_007294.3(BRCA1):c.594-2A>C 80358033 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43095924 43095924 T G 46245 single nucleotide variant NM_007294.3(BRCA1):c.641A>G (p.Asp214Gly) 55680408 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41247892 41247892 T C 46245 single nucleotide variant NM_007294.3(BRCA1):c.641A>G (p.Asp214Gly) 55680408 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43095875 43095875 T C 46246 single nucleotide variant NM_007294.3(BRCA1):c.661G>T (p.Ala221Ser) 80357088 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41247872 41247872 C A 46246 single nucleotide variant NM_007294.3(BRCA1):c.661G>T (p.Ala221Ser) 80357088 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43095855 43095855 C A 46247 duplication NM_007294.3(BRCA1):c.66dupA (p.Glu23Argfs) 80357783 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41276048 41276048 T TT 46247 duplication NM_007294.3(BRCA1):c.66dupA (p.Glu23Argfs) 80357783 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43124031 43124031 T TT 46248 single nucleotide variant NM_007294.3(BRCA1):c.670+8C>T 80358050 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41247855 41247855 G A 46248 single nucleotide variant NM_007294.3(BRCA1):c.670+8C>T 80358050 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43095838 43095838 G A 46249 deletion NM_007294.3(BRCA1):c.676delT (p.Cys226Valfs) 80357941 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41246872 41246872 A - 46249 deletion NM_007294.3(BRCA1):c.676delT (p.Cys226Valfs) 80357941 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43094855 43094855 A - 46251 deletion NM_007294.3(BRCA1):c.697_698delGT (p.Val233Asnfs) 80357747 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41246850 41246851 AC - 46251 deletion NM_007294.3(BRCA1):c.697_698delGT (p.Val233Asnfs) 80357747 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43094833 43094834 AC - 46252 single nucleotide variant NM_007294.3(BRCA1):c.745A>T (p.Thr249Ser) 397507256 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41246803 41246803 T A 46252 single nucleotide variant NM_007294.3(BRCA1):c.745A>T (p.Thr249Ser) 397507256 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43094786 43094786 T A 46253 single nucleotide variant NM_007294.3(BRCA1):c.783T>G (p.Tyr261Ter) 80357321 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41246765 41246765 A C 46253 single nucleotide variant NM_007294.3(BRCA1):c.783T>G (p.Tyr261Ter) 80357321 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43094748 43094748 A C 46254 deletion NM_007294.3(BRCA1):c.798_799delTT (p.Ser267Lysfs) 80357724 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41246749 41246750 AA - 46254 deletion NM_007294.3(BRCA1):c.798_799delTT (p.Ser267Lysfs) 80357724 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43094732 43094733 AA - 46255 deletion NM_007294.3(BRCA1):c.81-11delT 273902788 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41267807 41267807 A - 46255 deletion NM_007294.3(BRCA1):c.81-11delT 273902788 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43115790 43115790 A - 46256 single nucleotide variant NM_007294.3(BRCA1):c.81-13C>A 56328013 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 41267809 41267809 G T 46256 single nucleotide variant NM_007294.3(BRCA1):c.81-13C>A 56328013 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 43115792 43115792 G T 46257 single nucleotide variant NM_007294.3(BRCA1):c.81-13C>G 56328013 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 41267809 41267809 G C 46257 single nucleotide variant NM_007294.3(BRCA1):c.81-13C>G 56328013 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 43115792 43115792 G C 46258 single nucleotide variant NM_007294.3(BRCA1):c.81-14C>T 80358006 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 41267810 41267810 G A 46258 single nucleotide variant NM_007294.3(BRCA1):c.81-14C>T 80358006 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 43115793 43115793 G A 46259 single nucleotide variant NM_007294.3(BRCA1):c.81-6T>C 80358179 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41267802 41267802 A G 46259 single nucleotide variant NM_007294.3(BRCA1):c.81-6T>C 80358179 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43115785 43115785 A G 46261 insertion NM_007294.3(BRCA1):c.824_825ins10 (p.?) 387906563 MedGen:C2676676,OMIM:604370 17 41246723 41246724 na na 46261 insertion NM_007294.3(BRCA1):c.824_825ins10 (p.?) 387906563 MedGen:C2676676,OMIM:604370 17 43094706 43094707 na na 46262 single nucleotide variant NM_007294.3(BRCA1):c.827C>G (p.Thr276Arg) 80357436 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246721 41246721 G C 46262 single nucleotide variant NM_007294.3(BRCA1):c.827C>G (p.Thr276Arg) 80357436 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094704 43094704 G C 46263 single nucleotide variant NM_007294.3(BRCA1):c.85G>T (p.Glu29Ter) 80357443 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41267792 41267792 C A 46263 single nucleotide variant NM_007294.3(BRCA1):c.85G>T (p.Glu29Ter) 80357443 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43115775 43115775 C A 46264 deletion NM_007294.3(BRCA1):c.929delA (p.Gln310Argfs) 80357844 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41246619 41246619 T - 46264 deletion NM_007294.3(BRCA1):c.929delA (p.Gln310Argfs) 80357844 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43094602 43094602 T - 46265 single nucleotide variant NM_007294.3(BRCA1):c.946A>G (p.Ser316Gly) 55874646 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41246602 41246602 T C 46265 single nucleotide variant NM_007294.3(BRCA1):c.946A>G (p.Ser316Gly) 55874646 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43094585 43094585 T C 46266 deletion NM_007294.3(BRCA1):c.952_1015del64 (p.His318Argfs) 80359872 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246533 41246596 na na 46266 deletion NM_007294.3(BRCA1):c.952_1015del64 (p.His318Argfs) 80359872 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094516 43094579 na na 46267 single nucleotide variant NM_007294.3(BRCA1):c.956A>G (p.Asn319Ser) 397507258 MedGen:C2676676,OMIM:604370 17 41246592 41246592 T C 46267 single nucleotide variant NM_007294.3(BRCA1):c.956A>G (p.Asn319Ser) 397507258 MedGen:C2676676,OMIM:604370 17 43094575 43094575 T C 46268 single nucleotide variant NM_007294.3(BRCA1):c.962G>A (p.Trp321Ter) 80357292 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41246586 41246586 C T 46268 single nucleotide variant NM_007294.3(BRCA1):c.962G>A (p.Trp321Ter) 80357292 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43094569 43094569 C T 46269 single nucleotide variant NM_007294.3(BRCA1):c.988G>A (p.Asp330Asn) 397507259 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41246560 41246560 C T 46269 single nucleotide variant NM_007294.3(BRCA1):c.988G>A (p.Asp330Asn) 397507259 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43094543 43094543 C T 50242 single nucleotide variant NM_007294.3(BRCA1):c.1067A>G (p.Gln356Arg) 1799950 MedGen:C2676676,OMIM:604370;MedGen:C1527349;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41246481 41246481 T C 50242 single nucleotide variant NM_007294.3(BRCA1):c.1067A>G (p.Gln356Arg) 1799950 MedGen:C2676676,OMIM:604370;MedGen:C1527349;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43094464 43094464 T C 50243 single nucleotide variant NM_007294.3(BRCA1):c.1233T>G (p.Asp411Glu) 80357024 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41246315 41246315 A C 50243 single nucleotide variant NM_007294.3(BRCA1):c.1233T>G (p.Asp411Glu) 80357024 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43094298 43094298 A C 50244 single nucleotide variant NM_007294.3(BRCA1):c.1487G>A (p.Arg496His) 28897677 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41246061 41246061 C T 50244 single nucleotide variant NM_007294.3(BRCA1):c.1487G>A (p.Arg496His) 28897677 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43094044 43094044 C T 50245 single nucleotide variant NM_007294.3(BRCA1):c.1789G>A (p.Glu597Lys) 55650082 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41245759 41245759 C T 50245 single nucleotide variant NM_007294.3(BRCA1):c.1789G>A (p.Glu597Lys) 55650082 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43093742 43093742 C T 50246 single nucleotide variant NM_007294.3(BRCA1):c.1849A>G (p.Thr617Ala) 45564238 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41245699 41245699 T C 50246 single nucleotide variant NM_007294.3(BRCA1):c.1849A>G (p.Thr617Ala) 45564238 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43093682 43093682 T C 50247 single nucleotide variant NM_007294.3(BRCA1):c.2077G>A (p.Asp693Asn) 4986850 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41245471 41245471 C T 50247 single nucleotide variant NM_007294.3(BRCA1):c.2077G>A (p.Asp693Asn) 4986850 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43093454 43093454 C T 50248 single nucleotide variant NM_007294.3(BRCA1):c.2315T>C (p.Val772Ala) 80357467 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41245233 41245233 A G 50248 single nucleotide variant NM_007294.3(BRCA1):c.2315T>C (p.Val772Ala) 80357467 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43093216 43093216 A G 50249 single nucleotide variant NM_007294.3(BRCA1):c.2458A>G (p.Lys820Glu) 56082113 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41245090 41245090 T C 50249 single nucleotide variant NM_007294.3(BRCA1):c.2458A>G (p.Lys820Glu) 56082113 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43093073 43093073 T C 50250 single nucleotide variant NM_007294.3(BRCA1):c.2596C>T (p.Arg866Cys) 41286300 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41244952 41244952 G A 50250 single nucleotide variant NM_007294.3(BRCA1):c.2596C>T (p.Arg866Cys) 41286300 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43092935 43092935 G A 50251 single nucleotide variant NM_007294.3(BRCA1):c.2612C>T (p.Pro871Leu) 799917 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41244936 41244936 G A 50251 single nucleotide variant NM_007294.3(BRCA1):c.2612C>T (p.Pro871Leu) 799917 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43092919 43092919 G A 50252 single nucleotide variant NM_007294.3(BRCA1):c.2783G>A (p.Gly928Asp) 202004680 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41244765 41244765 C T 50252 single nucleotide variant NM_007294.3(BRCA1):c.2783G>A (p.Gly928Asp) 202004680 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43092748 43092748 C T 50253 single nucleotide variant NM_007294.3(BRCA1):c.3024G>A (p.Met1008Ile) 1800704 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41244524 41244524 C T 50253 single nucleotide variant NM_007294.3(BRCA1):c.3024G>A (p.Met1008Ile) 1800704 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43092507 43092507 C T 50254 single nucleotide variant NM_007294.3(BRCA1):c.3113A>G (p.Glu1038Gly) 16941 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41244435 41244435 T C 50254 single nucleotide variant NM_007294.3(BRCA1):c.3113A>G (p.Glu1038Gly) 16941 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43092418 43092418 T C 50255 single nucleotide variant NM_007294.3(BRCA1):c.3296C>T (p.Pro1099Leu) 80357201 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41244252 41244252 G A 50255 single nucleotide variant NM_007294.3(BRCA1):c.3296C>T (p.Pro1099Leu) 80357201 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43092235 43092235 G A 50256 single nucleotide variant NM_007294.3(BRCA1):c.3418A>G (p.Ser1140Gly) 2227945 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41244130 41244130 T C 50256 single nucleotide variant NM_007294.3(BRCA1):c.3418A>G (p.Ser1140Gly) 2227945 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43092113 43092113 T C 50257 single nucleotide variant NM_007294.3(BRCA1):c.3548A>G (p.Lys1183Arg) 16942 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41244000 41244000 T C 50257 single nucleotide variant NM_007294.3(BRCA1):c.3548A>G (p.Lys1183Arg) 16942 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43091983 43091983 T C 50258 single nucleotide variant NM_007294.3(BRCA1):c.3783A>T (p.Leu1261Phe) 80356831 MedGen:CN221809 17 41243765 41243765 T A 50258 single nucleotide variant NM_007294.3(BRCA1):c.3783A>T (p.Leu1261Phe) 80356831 MedGen:CN221809 17 43091748 43091748 T A 50259 single nucleotide variant NM_007294.3(BRCA1):c.3962C>G (p.Ser1321Cys) 386833394 MedGen:CN221809 17 41243586 41243586 G C 50259 single nucleotide variant NM_007294.3(BRCA1):c.3962C>G (p.Ser1321Cys) 386833394 MedGen:CN221809 17 43091569 43091569 G C 50260 single nucleotide variant NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) 28897689 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41243509 41243509 T C 50260 single nucleotide variant NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) 28897689 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43091492 43091492 T C 50261 single nucleotide variant NM_007294.3(BRCA1):c.4096+30C>T 369055904 MedGen:CN221809 17 41243422 41243422 G A 50261 single nucleotide variant NM_007294.3(BRCA1):c.4096+30C>T 369055904 MedGen:CN221809 17 43091405 43091405 G A 50262 single nucleotide variant NM_007294.3(BRCA1):c.425C>A (p.Pro142His) 55971303 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41256155 41256155 G T 50262 single nucleotide variant NM_007294.3(BRCA1):c.425C>A (p.Pro142His) 55971303 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43104138 43104138 G T 50263 single nucleotide variant NM_007294.3(BRCA1):c.4414C>T (p.Leu1472Phe) 200582930 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41228575 41228575 G A 50263 single nucleotide variant NM_007294.3(BRCA1):c.4414C>T (p.Leu1472Phe) 200582930 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43076558 43076558 G A 50264 single nucleotide variant NM_007294.3(BRCA1):c.4520G>C (p.Arg1507Thr) 80357470 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41226503 41226503 C G 50264 single nucleotide variant NM_007294.3(BRCA1):c.4520G>C (p.Arg1507Thr) 80357470 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43074486 43074486 C G 50265 single nucleotide variant NM_007294.3(BRCA1):c.4535G>T (p.Ser1512Ile) 1800744 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41226488 41226488 C A 50265 single nucleotide variant NM_007294.3(BRCA1):c.4535G>T (p.Ser1512Ile) 1800744 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43074471 43074471 C A 50266 single nucleotide variant NM_007294.3(BRCA1):c.4837A>G (p.Ser1613Gly) 1799966 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41223094 41223094 T C 50266 single nucleotide variant NM_007294.3(BRCA1):c.4837A>G (p.Ser1613Gly) 1799966 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43071077 43071077 T C 50267 single nucleotide variant NM_007294.3(BRCA1):c.4883T>C (p.Met1628Thr) 4986854 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41223048 41223048 A G 50267 single nucleotide variant NM_007294.3(BRCA1):c.4883T>C (p.Met1628Thr) 4986854 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43071031 43071031 A G 50268 single nucleotide variant NM_007294.3(BRCA1):c.4903G>A (p.Glu1635Lys) 200432771 MedGen:C2676676,OMIM:604370;MedGen:CN221809 17 41223028 41223028 C T 50268 single nucleotide variant NM_007294.3(BRCA1):c.4903G>A (p.Glu1635Lys) 200432771 MedGen:C2676676,OMIM:604370;MedGen:CN221809 17 43071011 43071011 C T 50269 single nucleotide variant NM_007294.3(BRCA1):c.4956G>A (p.Met1652Ile) 1799967 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41222975 41222975 C T 50269 single nucleotide variant NM_007294.3(BRCA1):c.4956G>A (p.Met1652Ile) 1799967 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43070958 43070958 C T 50270 single nucleotide variant NM_007294.3(BRCA1):c.5005G>T (p.Ala1669Ser) 80357087 MedGen:CN221562;Human Phenotype Ontology:HP:0003002,MedGen:CN002714;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41219694 41219694 C A 50270 single nucleotide variant NM_007294.3(BRCA1):c.5005G>T (p.Ala1669Ser) 80357087 MedGen:CN221562;Human Phenotype Ontology:HP:0003002,MedGen:CN002714;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43067677 43067677 C A 50271 single nucleotide variant NM_007294.3(BRCA1):c.5113C>G (p.Leu1705Val) 80356858 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41215930 41215930 G C 50271 single nucleotide variant NM_007294.3(BRCA1):c.5113C>G (p.Leu1705Val) 80356858 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43063913 43063913 G C 50272 single nucleotide variant NM_007294.3(BRCA1):c.5579A>C (p.His1860Pro) 201196020 MedGen:CN221809 17 41197708 41197708 T G 50272 single nucleotide variant NM_007294.3(BRCA1):c.5579A>C (p.His1860Pro) 201196020 MedGen:CN221809 17 43045691 43045691 T G 50274 single nucleotide variant NM_007294.3(BRCA1):c.736T>G (p.Leu246Val) 28897675 MedGen:CN221562;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41246812 41246812 A C 50274 single nucleotide variant NM_007294.3(BRCA1):c.736T>G (p.Leu246Val) 28897675 MedGen:CN221562;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43094795 43094795 A C 68993 single nucleotide variant NM_007294.3(BRCA1):c.1690A>C (p.Asn564His) 397507191 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245858 41245858 T G 69336 duplication NM_007294.3(BRCA1):c.2745dupT (p.Asn916Terfs) 397509008 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092786 43092786 A AA 70051 deletion NM_007294.3(BRCA1):c.5075_5078delATGC (p.Asp1692Valfs) 397509223 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063948 43063951 GCAT - 70249 single nucleotide variant NM_007294.3(BRCA1):c.5448A>G (p.Thr1816=) 397509285 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43047662 43047662 T C 70338 single nucleotide variant NM_007294.3(BRCA1):c.693G>T (p.Thr231=) 62625298 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094838 43094838 C A 70368 single nucleotide variant NM_007294.3(BRCA1):c.788G>T (p.Gly263Val) 397509319 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094743 43094743 C A 70370 single nucleotide variant NM_007294.3(BRCA1):c.790A>T (p.Ser264Cys) 397509321 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246758 41246758 T A 70371 single nucleotide variant NM_007294.3(BRCA1):c.791G>A (p.Ser264Asn) 397509322 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094740 43094740 C T 68766 single nucleotide variant NM_007294.3(BRCA1):c.1001C>T (p.Pro334Leu) 41286290 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246547 41246547 G A 68766 single nucleotide variant NM_007294.3(BRCA1):c.1001C>T (p.Pro334Leu) 41286290 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094530 43094530 G A 68767 duplication NM_007294.3(BRCA1):c.1008dupA (p.Glu337Argfs) 67284603 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246540 41246540 T TT 68767 duplication NM_007294.3(BRCA1):c.1008dupA (p.Glu337Argfs) 67284603 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094523 43094523 T TT 68768 single nucleotide variant NM_007294.3(BRCA1):c.1012A>T (p.Lys338Ter) 397508826 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41246536 41246536 T A 68768 single nucleotide variant NM_007294.3(BRCA1):c.1012A>T (p.Lys338Ter) 397508826 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43094519 43094519 T A 68769 duplication NM_007294.3(BRCA1):c.1011dupA (p.Val340Glyfs) 80357569 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41246532 41246532 T TT 68769 duplication NM_007294.3(BRCA1):c.1011dupA (p.Val340Glyfs) 80357569 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43094515 43094515 T TT 68770 deletion NM_007294.3(BRCA1):c.101delC (p.Pro34Leufs) 80357750 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41267776 41267776 G - 68770 deletion NM_007294.3(BRCA1):c.101delC (p.Pro34Leufs) 80357750 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43115759 43115759 G - 68771 single nucleotide variant NM_007294.3(BRCA1):c.1030G>A (p.Ala344Thr) 79727659 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246518 41246518 C T 68771 single nucleotide variant NM_007294.3(BRCA1):c.1030G>A (p.Ala344Thr) 79727659 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094501 43094501 C T 68772 deletion NM_007294.3(BRCA1):c.1039_1040delCT (p.Leu347Valfs) 397508827 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41246508 41246509 AG - 68772 deletion NM_007294.3(BRCA1):c.1039_1040delCT (p.Leu347Valfs) 397508827 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43094491 43094492 AG - 68773 deletion NM_007294.3(BRCA1):c.1040delT (p.Leu347Argfs) 397508828 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246508 41246508 A - 68773 deletion NM_007294.3(BRCA1):c.1040delT (p.Leu347Argfs) 397508828 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094491 43094491 A - 68774 single nucleotide variant NM_007294.3(BRCA1):c.1045G>T (p.Glu349Ter) 80357338 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246503 41246503 C A 68774 single nucleotide variant NM_007294.3(BRCA1):c.1045G>T (p.Glu349Ter) 80357338 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094486 43094486 C A 68775 single nucleotide variant NM_007294.3(BRCA1):c.1054G>T (p.Glu352Ter) 80357472 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41246494 41246494 C A 68775 single nucleotide variant NM_007294.3(BRCA1):c.1054G>T (p.Glu352Ter) 80357472 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43094477 43094477 C A 68776 single nucleotide variant NM_007294.3(BRCA1):c.1058G>A (p.Trp353Ter) 80356908 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246490 41246490 C T 68776 single nucleotide variant NM_007294.3(BRCA1):c.1058G>A (p.Trp353Ter) 80356908 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094473 43094473 C T 68777 single nucleotide variant NM_007294.3(BRCA1):c.1059G>A (p.Trp353Ter) 80356935 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246489 41246489 C T 68777 single nucleotide variant NM_007294.3(BRCA1):c.1059G>A (p.Trp353Ter) 80356935 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094472 43094472 C T 68778 single nucleotide variant NM_007294.3(BRCA1):c.1063A>T (p.Lys355Ter) 397508829 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246485 41246485 T A 68778 single nucleotide variant NM_007294.3(BRCA1):c.1063A>T (p.Lys355Ter) 397508829 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094468 43094468 T A 68779 single nucleotide variant NM_007294.3(BRCA1):c.1064A>G (p.Lys355Arg) 80357246 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246484 41246484 T C 68779 single nucleotide variant NM_007294.3(BRCA1):c.1064A>G (p.Lys355Arg) 80357246 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094467 43094467 T C 68780 single nucleotide variant NM_007294.3(BRCA1):c.1065G>A (p.Lys355=) 41286292 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246483 41246483 C T 68780 single nucleotide variant NM_007294.3(BRCA1):c.1065G>A (p.Lys355=) 41286292 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094466 43094466 C T 68926 single nucleotide variant NM_007294.3(BRCA1):c.1458T>A (p.Phe486Leu) 80357400 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246090 41246090 A T 68781 single nucleotide variant NM_007294.3(BRCA1):c.1066C>T (p.Gln356Ter) 80357215 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41246482 41246482 G A 68781 single nucleotide variant NM_007294.3(BRCA1):c.1066C>T (p.Gln356Ter) 80357215 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43094465 43094465 G A 68782 deletion NM_007294.3(BRCA1):c.1067delA (p.Gln356Argfs) 80357796 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246481 41246481 T - 68782 deletion NM_007294.3(BRCA1):c.1067delA (p.Gln356Argfs) 80357796 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094464 43094464 T - 68783 deletion NM_007294.3(BRCA1):c.1068_1077delGAAACTGCCA (p.Gln356Hisfs) 397508830 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246471 41246480 TGGCAGTTTC - 68783 deletion NM_007294.3(BRCA1):c.1068_1077delGAAACTGCCA (p.Gln356Hisfs) 397508830 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094454 43094463 TGGCAGTTTC - 68784 deletion NM_007294.3(BRCA1):c.1072delC (p.Leu358Cysfs) 80357836 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246476 41246476 G - 68784 deletion NM_007294.3(BRCA1):c.1072delC (p.Leu358Cysfs) 80357836 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094459 43094459 G - 68785 single nucleotide variant NM_007294.3(BRCA1):c.1076C>T (p.Pro359Leu) 397508831 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246472 41246472 G A 68785 single nucleotide variant NM_007294.3(BRCA1):c.1076C>T (p.Pro359Leu) 397508831 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094455 43094455 G A 68786 insertion NM_007294.3(BRCA1):c.1080_1081insA (p.Ser361Ilefs) 397508832 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246467 41246468 - T 68786 insertion NM_007294.3(BRCA1):c.1080_1081insA (p.Ser361Ilefs) 397508832 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094450 43094451 - T 68787 single nucleotide variant NM_007294.3(BRCA1):c.1081T>C (p.Ser361Pro) 80356946 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41246467 41246467 A G 68787 single nucleotide variant NM_007294.3(BRCA1):c.1081T>C (p.Ser361Pro) 80356946 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43094450 43094450 A G 68963 deletion NM_007294.3(BRCA1):c.1570delG (p.Ala524Glnfs) 397508886 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093961 43093961 C - 68788 single nucleotide variant NM_007294.3(BRCA1):c.1082C>G (p.Ser361Ter) 397508833 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246466 41246466 G C 68788 single nucleotide variant NM_007294.3(BRCA1):c.1082C>G (p.Ser361Ter) 397508833 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094449 43094449 G C 68789 deletion NM_007294.3(BRCA1):c.1082_1092delCAGAGAATCCT (p.Ser361Terfs) 80359880 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41246456 41246466 AGGATTCTCTG - 68789 deletion NM_007294.3(BRCA1):c.1082_1092delCAGAGAATCCT (p.Ser361Terfs) 80359880 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43094439 43094449 AGGATTCTCTG - 68790 deletion NM_007294.3(BRCA1):c.1086_1087delGA (p.Asn363Serfs) 80357897 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246461 41246462 TC - 68790 deletion NM_007294.3(BRCA1):c.1086_1087delGA (p.Asn363Serfs) 80357897 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094444 43094445 TC - 68791 deletion NM_007294.3(BRCA1):c.1088delA (p.Asn363Ilefs) 80357954 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246460 41246460 T - 68791 deletion NM_007294.3(BRCA1):c.1088delA (p.Asn363Ilefs) 80357954 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094443 43094443 T - 68792 deletion NM_007294.3(BRCA1):c.1091delC (p.Pro364Leufs) 397508834 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246457 41246457 G - 68792 deletion NM_007294.3(BRCA1):c.1091delC (p.Pro364Leufs) 397508834 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094440 43094440 G - 68793 duplication NM_007294.3(BRCA1):c.1099dupA (p.Thr367Asnfs) 397508835 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246449 41246449 T TT 68793 duplication NM_007294.3(BRCA1):c.1099dupA (p.Thr367Asnfs) 397508835 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094432 43094432 T TT 68794 duplication NM_007294.3(BRCA1):c.1100dupC (p.Glu368Terfs) 397508836 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246448 41246448 G GG 68794 duplication NM_007294.3(BRCA1):c.1100dupC (p.Glu368Terfs) 397508836 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094431 43094431 G GG 68795 single nucleotide variant NM_007294.3(BRCA1):c.1102G>T (p.Glu368Ter) 80357139 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246446 41246446 C A 68795 single nucleotide variant NM_007294.3(BRCA1):c.1102G>T (p.Glu368Ter) 80357139 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094429 43094429 C A 68796 single nucleotide variant NM_007294.3(BRCA1):c.1106A>G (p.Asp369Gly) 80357416 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246442 41246442 T C 68796 single nucleotide variant NM_007294.3(BRCA1):c.1106A>G (p.Asp369Gly) 80357416 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094425 43094425 T C 68797 deletion NM_007294.3(BRCA1):c.1106_1108delATG (p.Asp369del) 80358325 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41246440 41246442 CAT - 68797 deletion NM_007294.3(BRCA1):c.1106_1108delATG (p.Asp369del) 80358325 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43094423 43094425 CAT - 68798 single nucleotide variant NM_007294.3(BRCA1):c.110C>A (p.Thr37Lys) 80356880 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41267767 41267767 G T 68798 single nucleotide variant NM_007294.3(BRCA1):c.110C>A (p.Thr37Lys) 80356880 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43115750 43115750 G T 68799 single nucleotide variant NM_007294.3(BRCA1):c.110C>G (p.Thr37Arg) 80356880 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41267767 41267767 G C 68799 single nucleotide variant NM_007294.3(BRCA1):c.110C>G (p.Thr37Arg) 80356880 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43115750 43115750 G C 68800 deletion NM_007294.3(BRCA1):c.1112delC (p.Pro371Leufs) 397508837 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246436 41246436 G - 68800 deletion NM_007294.3(BRCA1):c.1112delC (p.Pro371Leufs) 397508837 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094419 43094419 G - 68801 single nucleotide variant NM_007294.3(BRCA1):c.1115G>A (p.Trp372Ter) 397508838 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246433 41246433 C T 68801 single nucleotide variant NM_007294.3(BRCA1):c.1115G>A (p.Trp372Ter) 397508838 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094416 43094416 C T 68802 single nucleotide variant NM_007294.3(BRCA1):c.1116G>A (p.Trp372Ter) 80357468 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41246432 41246432 C T 68802 single nucleotide variant NM_007294.3(BRCA1):c.1116G>A (p.Trp372Ter) 80357468 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43094415 43094415 C T 68803 single nucleotide variant NM_007294.3(BRCA1):c.1121C>T (p.Thr374Ile) 80357235 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246427 41246427 G A 68803 single nucleotide variant NM_007294.3(BRCA1):c.1121C>T (p.Thr374Ile) 80357235 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094410 43094410 G A 68804 indel NM_007294.3(BRCA1):c.1121_1123delCACinsT (p.Thr374Ilefs) 273897652 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246425 41246427 GTG A 68804 indel NM_007294.3(BRCA1):c.1121_1123delCACinsT (p.Thr374Ilefs) 273897652 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094408 43094410 GTG A 68805 deletion NM_007294.3(BRCA1):c.1122_1123delAC (p.Leu375Lysfs) 397508839 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246425 41246426 GT - 68805 deletion NM_007294.3(BRCA1):c.1122_1123delAC (p.Leu375Lysfs) 397508839 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094408 43094409 GT - 68806 single nucleotide variant NM_007294.3(BRCA1):c.1127A>G (p.Asn376Ser) 80356976 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246421 41246421 T C 68806 single nucleotide variant NM_007294.3(BRCA1):c.1127A>G (p.Asn376Ser) 80356976 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094404 43094404 T C 68807 deletion NM_007294.3(BRCA1):c.1127delA (p.Asn376Ilefs) 80357821 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41246421 41246421 T - 68807 deletion NM_007294.3(BRCA1):c.1127delA (p.Asn376Ilefs) 80357821 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43094404 43094404 T - 68808 deletion NM_007294.3(BRCA1):c.112_113delAA (p.Lys38Valfs) 80357949 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41267764 41267765 TT - 69000 duplication NM_007294.3(BRCA1):c.1716dupA (p.Ser573Ilefs) 397508901 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093815 43093815 T TT 68808 deletion NM_007294.3(BRCA1):c.112_113delAA (p.Lys38Valfs) 80357949 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43115747 43115748 TT - 68809 single nucleotide variant NM_007294.3(BRCA1):c.1130G>A (p.Ser377Asn) 80357398 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246418 41246418 C T 68809 single nucleotide variant NM_007294.3(BRCA1):c.1130G>A (p.Ser377Asn) 80357398 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094401 43094401 C T 68810 single nucleotide variant NM_007294.3(BRCA1):c.1137T>G (p.Ile379Met) 56128296 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246411 41246411 A C 68810 single nucleotide variant NM_007294.3(BRCA1):c.1137T>G (p.Ile379Met) 56128296 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094394 43094394 A C 68811 single nucleotide variant NM_007294.3(BRCA1):c.1138C>T (p.Gln380Ter) 397508840 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246410 41246410 G A 68811 single nucleotide variant NM_007294.3(BRCA1):c.1138C>T (p.Gln380Ter) 397508840 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094393 43094393 G A 68812 single nucleotide variant NM_007294.3(BRCA1):c.1141A>T (p.Lys381Ter) 80357385 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246407 41246407 T A 68812 single nucleotide variant NM_007294.3(BRCA1):c.1141A>T (p.Lys381Ter) 80357385 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094390 43094390 T A 68813 single nucleotide variant NM_007294.3(BRCA1):c.114G>A (p.Lys38=) 1800062 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41267763 41267763 C T 68813 single nucleotide variant NM_007294.3(BRCA1):c.114G>A (p.Lys38=) 1800062 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43115746 43115746 C T 68814 single nucleotide variant NM_007294.3(BRCA1):c.114G>T (p.Lys38Asn) 1800062 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41267763 41267763 C A 69372 duplication NM_007294.3(BRCA1):c.2870dupA (p.Phe958Valfs) 397509020 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244678 41244678 T TT 68814 single nucleotide variant NM_007294.3(BRCA1):c.114G>T (p.Lys38Asn) 1800062 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43115746 43115746 C A 68815 duplication NM_007294.3(BRCA1):c.1152dupG (p.Trp385Valfs) 397508841 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246396 41246396 C CC 68815 duplication NM_007294.3(BRCA1):c.1152dupG (p.Trp385Valfs) 397508841 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094379 43094379 C CC 68816 deletion NM_007294.3(BRCA1):c.1158_1159delTT (p.Ser387Glnfs) 397508842 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246389 41246390 AA - 68816 deletion NM_007294.3(BRCA1):c.1158_1159delTT (p.Ser387Glnfs) 397508842 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094372 43094373 AA - 68817 duplication NM_007294.3(BRCA1):c.1159dupT (p.Ser387Phefs) 397508843 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246389 41246389 A AA 68817 duplication NM_007294.3(BRCA1):c.1159dupT (p.Ser387Phefs) 397508843 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094372 43094372 A AA 68818 single nucleotide variant NM_007294.3(BRCA1):c.115T>A (p.Cys39Ser) 80357164 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41267762 41267762 A T 68818 single nucleotide variant NM_007294.3(BRCA1):c.115T>A (p.Cys39Ser) 80357164 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43115745 43115745 A T 68819 single nucleotide variant NM_007294.3(BRCA1):c.115T>C (p.Cys39Arg) 80357164 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41267762 41267762 A G 68819 single nucleotide variant NM_007294.3(BRCA1):c.115T>C (p.Cys39Arg) 80357164 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43115745 43115745 A G 68820 single nucleotide variant NM_007294.3(BRCA1):c.115T>G (p.Cys39Gly) 80357164 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41267762 41267762 A C 68820 single nucleotide variant NM_007294.3(BRCA1):c.115T>G (p.Cys39Gly) 80357164 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43115745 43115745 A C 68821 deletion NM_007294.3(BRCA1):c.1165delA (p.Ser389Valfs) 80357985 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246383 41246383 T - 68821 deletion NM_007294.3(BRCA1):c.1165delA (p.Ser389Valfs) 80357985 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094366 43094366 T - 68822 deletion NM_007294.3(BRCA1):c.1166delG (p.Ser389Metfs) 273897653 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246382 41246382 C - 68822 deletion NM_007294.3(BRCA1):c.1166delG (p.Ser389Metfs) 273897653 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094365 43094365 C - 68823 deletion NM_007294.3(BRCA1):c.1175_1178delTGTT (p.Leu392Glnfs) 397508844 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246370 41246373 AACA - 68823 deletion NM_007294.3(BRCA1):c.1175_1178delTGTT (p.Leu392Glnfs) 397508844 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094353 43094356 AACA - 68824 deletion NM_007294.3(BRCA1):c.117_118delTG (p.Cys39Terfs) 80357972 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41267759 41267760 CA - 68824 deletion NM_007294.3(BRCA1):c.117_118delTG (p.Cys39Terfs) 80357972 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43115742 43115743 CA - 68825 deletion NM_007294.3(BRCA1):c.1188delT (p.Asp396Glufs) 397508845 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN221809 17 41246360 41246360 A - 68825 deletion NM_007294.3(BRCA1):c.1188delT (p.Asp396Glufs) 397508845 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN221809 17 43094343 43094343 A - 68826 single nucleotide variant NM_007294.3(BRCA1):c.1193C>A (p.Ser398Ter) 80357068 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246355 41246355 G T 68826 single nucleotide variant NM_007294.3(BRCA1):c.1193C>A (p.Ser398Ter) 80357068 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094338 43094338 G T 68827 single nucleotide variant NM_007294.3(BRCA1):c.1193C>G (p.Ser398Ter) 80357068 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246355 41246355 G C 68827 single nucleotide variant NM_007294.3(BRCA1):c.1193C>G (p.Ser398Ter) 80357068 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094338 43094338 G C 68828 single nucleotide variant NM_007294.3(BRCA1):c.1204G>T (p.Glu402Ter) 273897655 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246344 41246344 C A 68828 single nucleotide variant NM_007294.3(BRCA1):c.1204G>T (p.Glu402Ter) 273897655 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094327 43094327 C A 68829 deletion NM_007294.3(BRCA1):c.1204delG (p.Glu402Serfs) 80357859 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41246344 41246344 C - 68829 deletion NM_007294.3(BRCA1):c.1204delG (p.Glu402Serfs) 80357859 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43094327 43094327 C - 68830 single nucleotide variant NM_007294.3(BRCA1):c.1208C>T (p.Ser403Phe) 80356934 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246340 41246340 G A 68830 single nucleotide variant NM_007294.3(BRCA1):c.1208C>T (p.Ser403Phe) 80356934 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094323 43094323 G A 68831 single nucleotide variant NM_007294.3(BRCA1):c.1214C>A (p.Ser405Ter) 80357481 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246334 41246334 G T 68831 single nucleotide variant NM_007294.3(BRCA1):c.1214C>A (p.Ser405Ter) 80357481 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094317 43094317 G T 68832 deletion NM_007294.3(BRCA1):c.1217delA (p.Asn406Metfs) 397508846 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246331 41246331 T - 68832 deletion NM_007294.3(BRCA1):c.1217delA (p.Asn406Metfs) 397508846 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094314 43094314 T - 68833 single nucleotide variant NM_007294.3(BRCA1):c.122A>G (p.His41Arg) 80357276 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41267755 41267755 T C 68833 single nucleotide variant NM_007294.3(BRCA1):c.122A>G (p.His41Arg) 80357276 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43115738 43115738 T C 68834 deletion NM_007294.3(BRCA1):c.122delA (p.His41Profs) 397508847 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41267755 41267755 T - 68834 deletion NM_007294.3(BRCA1):c.122delA (p.His41Profs) 397508847 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43115738 43115738 T - 68835 single nucleotide variant NM_007294.3(BRCA1):c.1231G>A (p.Asp411Asn) 80357301 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41246317 41246317 C T 68835 single nucleotide variant NM_007294.3(BRCA1):c.1231G>A (p.Asp411Asn) 80357301 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43094300 43094300 C T 68836 deletion NM_007294.3(BRCA1):c.1232_1233delAT (p.Asp411Glyfs) 397508848 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246315 41246316 AT - 68836 deletion NM_007294.3(BRCA1):c.1232_1233delAT (p.Asp411Glyfs) 397508848 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094298 43094299 AT - 68837 deletion NM_007294.3(BRCA1):c.1240_1246delGACGTTC (p.Asp414Terfs) 80357964 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246302 41246308 GAACGTC - 68837 deletion NM_007294.3(BRCA1):c.1240_1246delGACGTTC (p.Asp414Terfs) 80357964 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094285 43094291 GAACGTC - 68838 duplication NM_007294.3(BRCA1):c.1241dupA (p.Asp414Glufs) 80357514 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246307 41246307 T TT 68838 duplication NM_007294.3(BRCA1):c.1241dupA (p.Asp414Glufs) 80357514 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094290 43094290 T TT 68839 single nucleotide variant NM_007294.3(BRCA1):c.124A>G (p.Ile42Val) 80357163 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41267753 41267753 T C 68839 single nucleotide variant NM_007294.3(BRCA1):c.124A>G (p.Ile42Val) 80357163 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43115736 43115736 T C 68840 deletion NM_007294.3(BRCA1):c.124delA (p.Ile42Tyrfs) 80357943 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41267753 41267753 T - 68840 deletion NM_007294.3(BRCA1):c.124delA (p.Ile42Tyrfs) 80357943 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43115736 43115736 T - 68841 single nucleotide variant NM_007294.3(BRCA1):c.1250A>G (p.Asn417Ser) 80357113 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41246298 41246298 T C 68841 single nucleotide variant NM_007294.3(BRCA1):c.1250A>G (p.Asn417Ser) 80357113 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43094281 43094281 T C 68842 single nucleotide variant NM_007294.3(BRCA1):c.1251T>G (p.Asn417Lys) 80357197 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246297 41246297 A C 68842 single nucleotide variant NM_007294.3(BRCA1):c.1251T>G (p.Asn417Lys) 80357197 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094280 43094280 A C 68843 single nucleotide variant NM_007294.3(BRCA1):c.1252G>T (p.Glu418Ter) 80357083 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246296 41246296 C A 68843 single nucleotide variant NM_007294.3(BRCA1):c.1252G>T (p.Glu418Ter) 80357083 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094279 43094279 C A 68844 deletion NM_007294.3(BRCA1):c.1255delG (p.Val419Terfs) 80357535 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246293 41246293 C - 68844 deletion NM_007294.3(BRCA1):c.1255delG (p.Val419Terfs) 80357535 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094276 43094276 C - 68845 single nucleotide variant NM_007294.3(BRCA1):c.1258G>T (p.Asp420Tyr) 80357488 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246290 41246290 C A 68845 single nucleotide variant NM_007294.3(BRCA1):c.1258G>T (p.Asp420Tyr) 80357488 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094273 43094273 C A 68846 single nucleotide variant NM_007294.3(BRCA1):c.1261G>A (p.Glu421Lys) 80357046 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246287 41246287 C T 68846 single nucleotide variant NM_007294.3(BRCA1):c.1261G>A (p.Glu421Lys) 80357046 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094270 43094270 C T 68847 single nucleotide variant NM_007294.3(BRCA1):c.1262A>G (p.Glu421Gly) 397508849 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246286 41246286 T C 68847 single nucleotide variant NM_007294.3(BRCA1):c.1262A>G (p.Glu421Gly) 397508849 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094269 43094269 T C 68848 duplication NM_007294.3(BRCA1):c.1265_1266dupAT (p.Ser423Ilefs) 397508850 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246282 41246283 AT ATAT 68848 duplication NM_007294.3(BRCA1):c.1265_1266dupAT (p.Ser423Ilefs) 397508850 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094265 43094266 AT ATAT 68849 duplication NM_007294.3(BRCA1):c.1265dupA (p.Tyr422Terfs) 80357809 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246283 41246283 T TT 68849 duplication NM_007294.3(BRCA1):c.1265dupA (p.Tyr422Terfs) 80357809 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094266 43094266 T TT 68850 single nucleotide variant NM_007294.3(BRCA1):c.1266T>G (p.Tyr422Ter) 80357417 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246282 41246282 A C 68850 single nucleotide variant NM_007294.3(BRCA1):c.1266T>G (p.Tyr422Ter) 80357417 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094265 43094265 A C 68851 deletion NM_007294.3(BRCA1):c.1276delT (p.Ser426Glnfs) 80357766 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246272 41246272 A - 68851 deletion NM_007294.3(BRCA1):c.1276delT (p.Ser426Glnfs) 80357766 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094255 43094255 A - 68852 single nucleotide variant NM_007294.3(BRCA1):c.1279G>T (p.Glu427Ter) 397508851 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246269 41246269 C A 68852 single nucleotide variant NM_007294.3(BRCA1):c.1279G>T (p.Glu427Ter) 397508851 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094252 43094252 C A 68853 duplication NM_007294.3(BRCA1):c.1287dupA (p.Asp430Argfs) 80357576 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41246261 41246261 T TT 68853 duplication NM_007294.3(BRCA1):c.1287dupA (p.Asp430Argfs) 80357576 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43094244 43094244 T TT 68854 single nucleotide variant NM_007294.3(BRCA1):c.1292T>G (p.Leu431Ter) 80357346 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246256 41246256 A C 68854 single nucleotide variant NM_007294.3(BRCA1):c.1292T>G (p.Leu431Ter) 80357346 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094239 43094239 A C 68855 duplication NM_007294.3(BRCA1):c.1292dupT (p.Leu431Phefs) 80357528 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246256 41246256 A AA 68855 duplication NM_007294.3(BRCA1):c.1292dupT (p.Leu431Phefs) 80357528 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094239 43094239 A AA 68856 indel NM_007294.3(BRCA1):c.1293_1295delACTinsGA (p.Leu432Argfs) 397508852 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246253 41246255 AGT TC 68856 indel NM_007294.3(BRCA1):c.1293_1295delACTinsGA (p.Leu432Argfs) 397508852 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094236 43094238 AGT TC 68857 deletion NM_007294.3(BRCA1):c.1297delG (p.Ala433Profs) 80357794 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246251 41246251 C - 68857 deletion NM_007294.3(BRCA1):c.1297delG (p.Ala433Profs) 80357794 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094234 43094234 C - 68858 single nucleotide variant NM_007294.3(BRCA1):c.130T>A (p.Cys44Ser) 80357327 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41267747 41267747 A T 69372 duplication NM_007294.3(BRCA1):c.2870dupA (p.Phe958Valfs) 397509020 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092661 43092661 T TT 68858 single nucleotide variant NM_007294.3(BRCA1):c.130T>A (p.Cys44Ser) 80357327 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43115730 43115730 A T 68859 single nucleotide variant NM_007294.3(BRCA1):c.130T>C (p.Cys44Arg) 80357327 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41267747 41267747 A G 68859 single nucleotide variant NM_007294.3(BRCA1):c.130T>C (p.Cys44Arg) 80357327 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43115730 43115730 A G 68860 single nucleotide variant NM_007294.3(BRCA1):c.130T>G (p.Cys44Gly) 80357327 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41267747 41267747 A C 68860 single nucleotide variant NM_007294.3(BRCA1):c.130T>G (p.Cys44Gly) 80357327 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43115730 43115730 A C 68861 deletion NM_007294.3(BRCA1):c.130delT (p.Cys44Alafs) 80357951 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41267747 41267747 A - 68861 deletion NM_007294.3(BRCA1):c.130delT (p.Cys44Alafs) 80357951 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43115730 43115730 A - 68862 single nucleotide variant NM_007294.3(BRCA1):c.1310A>C (p.His437Pro) 80357255 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246238 41246238 T G 68862 single nucleotide variant NM_007294.3(BRCA1):c.1310A>C (p.His437Pro) 80357255 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094221 43094221 T G 68863 single nucleotide variant NM_007294.3(BRCA1):c.1319T>C (p.Leu440Ser) 273897656 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246229 41246229 A G 68863 single nucleotide variant NM_007294.3(BRCA1):c.1319T>C (p.Leu440Ser) 273897656 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094212 43094212 A G 68864 deletion NM_007294.3(BRCA1):c.1319delT (p.Leu440Terfs) 80357683 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246229 41246229 A - 68864 deletion NM_007294.3(BRCA1):c.1319delT (p.Leu440Terfs) 80357683 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094212 43094212 A - 68865 duplication NM_007294.3(BRCA1):c.1319dupT (p.Leu440Phefs) 397508853 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246229 41246229 A AA 68865 duplication NM_007294.3(BRCA1):c.1319dupT (p.Leu440Phefs) 397508853 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094212 43094212 A AA 69408 single nucleotide variant NM_007294.3(BRCA1):c.2995C>A (p.Leu999Ile) 80356848 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244553 41244553 G T 68866 single nucleotide variant NM_007294.3(BRCA1):c.131G>A (p.Cys44Tyr) 80357446 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41267746 41267746 C T 68866 single nucleotide variant NM_007294.3(BRCA1):c.131G>A (p.Cys44Tyr) 80357446 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43115729 43115729 C T 68867 single nucleotide variant NM_007294.3(BRCA1):c.131G>T (p.Cys44Phe) 80357446 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41267746 41267746 C A 68867 single nucleotide variant NM_007294.3(BRCA1):c.131G>T (p.Cys44Phe) 80357446 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43115729 43115729 C A 68868 deletion NM_007294.3(BRCA1):c.1323_1324delAT (p.Ile441Metfs) 80357570 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246224 41246225 AT - 68868 deletion NM_007294.3(BRCA1):c.1323_1324delAT (p.Ile441Metfs) 80357570 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094207 43094208 AT - 68869 single nucleotide variant NM_007294.3(BRCA1):c.1326T>A (p.Cys442Ter) 397508854 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246222 41246222 A T 68869 single nucleotide variant NM_007294.3(BRCA1):c.1326T>A (p.Cys442Ter) 397508854 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094205 43094205 A T 68870 single nucleotide variant NM_007294.3(BRCA1):c.1333G>C (p.Glu445Gln) 80356915 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246215 41246215 C G 68870 single nucleotide variant NM_007294.3(BRCA1):c.1333G>C (p.Glu445Gln) 80356915 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094198 43094198 C G 68871 single nucleotide variant NM_007294.3(BRCA1):c.1333G>T (p.Glu445Ter) 80356915 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246215 41246215 C A 68871 single nucleotide variant NM_007294.3(BRCA1):c.1333G>T (p.Glu445Ter) 80356915 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094198 43094198 C A 68872 deletion NM_007294.3(BRCA1):c.1335_1336delAA (p.Arg446Serfs) 80357978 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246212 41246213 TT - 68872 deletion NM_007294.3(BRCA1):c.1335_1336delAA (p.Arg446Serfs) 80357978 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094195 43094196 TT - 68873 duplication NM_007294.3(BRCA1):c.1339dupG (p.Val447Glyfs) 397508855 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246209 41246209 C CC 68873 duplication NM_007294.3(BRCA1):c.1339dupG (p.Val447Glyfs) 397508855 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094192 43094192 C CC 68874 indel NM_007294.3(BRCA1):c.133_134+3delAAGTAinsT 397508856 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41267740 41267744 TACTT A 68874 indel NM_007294.3(BRCA1):c.133_134+3delAAGTAinsT 397508856 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43115723 43115727 TACTT A 68875 deletion NM_007294.3(BRCA1):c.133_134delAA (p.Lys45Ilefs) 397508857 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41267743 41267744 TT - 68875 deletion NM_007294.3(BRCA1):c.133_134delAA (p.Lys45Ilefs) 397508857 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43115726 43115727 TT - 68876 single nucleotide variant NM_007294.3(BRCA1):c.134+1G>T 80358043 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41267742 41267742 C A 68876 single nucleotide variant NM_007294.3(BRCA1):c.134+1G>T 80358043 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43115725 43115725 C A 68877 single nucleotide variant NM_007294.3(BRCA1):c.134+2T>G 80358131 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41267741 41267741 A C 68877 single nucleotide variant NM_007294.3(BRCA1):c.134+2T>G 80358131 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43115724 43115724 A C 68878 deletion NM_007294.3(BRCA1):c.134+2delT 273897657 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41267741 41267741 A - 68878 deletion NM_007294.3(BRCA1):c.134+2delT 273897657 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43115724 43115724 A - 68879 single nucleotide variant NM_007294.3(BRCA1):c.134+3A>C 80358064 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41267740 41267740 T G 68879 single nucleotide variant NM_007294.3(BRCA1):c.134+3A>C 80358064 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43115723 43115723 T G 68880 deletion NM_007294.3(BRCA1):c.134+3_134+6delAAGT 397508858 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41267737 41267740 ACTT - 68880 deletion NM_007294.3(BRCA1):c.134+3_134+6delAAGT 397508858 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43115720 43115723 ACTT - 68881 single nucleotide variant NM_007294.3(BRCA1):c.135-18T>G 80358085 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 41258568 41258568 A C 68881 single nucleotide variant NM_007294.3(BRCA1):c.135-18T>G 80358085 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 43106551 43106551 A C 68882 single nucleotide variant NM_007294.3(BRCA1):c.135-1G>C 80358158 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258551 41258551 C G 68882 single nucleotide variant NM_007294.3(BRCA1):c.135-1G>C 80358158 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106534 43106534 C G 68883 single nucleotide variant NM_007294.3(BRCA1):c.135-6T>G 397508859 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258556 41258556 A C 68883 single nucleotide variant NM_007294.3(BRCA1):c.135-6T>G 397508859 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106539 43106539 A C 68884 single nucleotide variant NM_007294.3(BRCA1):c.1352C>A (p.Ser451Ter) 80356891 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246196 41246196 G T 68884 single nucleotide variant NM_007294.3(BRCA1):c.1352C>A (p.Ser451Ter) 80356891 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094179 43094179 G T 68885 single nucleotide variant NM_007294.3(BRCA1):c.1352C>G (p.Ser451Ter) 80356891 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246196 41246196 G C 68885 single nucleotide variant NM_007294.3(BRCA1):c.1352C>G (p.Ser451Ter) 80356891 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094179 43094179 G C 68886 single nucleotide variant NM_007294.3(BRCA1):c.135A>T (p.Lys45Asn) 80356883 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258550 41258550 T A 68886 single nucleotide variant NM_007294.3(BRCA1):c.135A>T (p.Lys45Asn) 80356883 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106533 43106533 T A 68887 single nucleotide variant NM_007294.3(BRCA1):c.1361G>A (p.Ser454Asn) 80357181 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246187 41246187 C T 68887 single nucleotide variant NM_007294.3(BRCA1):c.1361G>A (p.Ser454Asn) 80357181 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094170 43094170 C T 68888 insertion NM_007294.3(BRCA1):c.1363_1364insGA (p.Asn455Argfs) 397508860 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246184 41246185 - TC 68888 insertion NM_007294.3(BRCA1):c.1363_1364insGA (p.Asn455Argfs) 397508860 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094167 43094168 - TC 68889 single nucleotide variant NM_007294.3(BRCA1):c.1367T>C (p.Ile456Thr) 80357360 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246181 41246181 A G 68889 single nucleotide variant NM_007294.3(BRCA1):c.1367T>C (p.Ile456Thr) 80357360 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094164 43094164 A G 68890 deletion NM_007294.3(BRCA1):c.1371delA (p.Asp458Thrfs) 397508861 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246177 41246177 T - 68890 deletion NM_007294.3(BRCA1):c.1371delA (p.Asp458Thrfs) 397508861 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094160 43094160 T - 68891 deletion NM_007294.3(BRCA1):c.1374delC (p.Asp458Glufs) 397508862 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246174 41246174 G - 68891 deletion NM_007294.3(BRCA1):c.1374delC (p.Asp458Glufs) 397508862 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094157 43094157 G - 68892 deletion NM_007294.3(BRCA1):c.1380delA (p.Phe461Leufs) 397508863 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246168 41246168 T - 68892 deletion NM_007294.3(BRCA1):c.1380delA (p.Phe461Leufs) 397508863 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094151 43094151 T - 68893 duplication NM_007294.3(BRCA1):c.1380dupA (p.Phe461Ilefs) 80357714 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41246168 41246168 T TT 68893 duplication NM_007294.3(BRCA1):c.1380dupA (p.Phe461Ilefs) 80357714 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43094151 43094151 T TT 68894 single nucleotide variant NM_007294.3(BRCA1):c.1381T>C (p.Phe461Leu) 62625300 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41246167 41246167 A G 68894 single nucleotide variant NM_007294.3(BRCA1):c.1381T>C (p.Phe461Leu) 62625300 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43094150 43094150 A G 68895 single nucleotide variant NM_007294.3(BRCA1):c.1383T>A (p.Phe461Leu) 56046357 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246165 41246165 A T 68895 single nucleotide variant NM_007294.3(BRCA1):c.1383T>A (p.Phe461Leu) 56046357 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094148 43094148 A T 68896 deletion NM_007294.3(BRCA1):c.1383delT (p.Phe461Leufs) 80357879 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246165 41246165 A - 68896 deletion NM_007294.3(BRCA1):c.1383delT (p.Phe461Leufs) 80357879 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094148 43094148 A - 68897 single nucleotide variant NM_007294.3(BRCA1):c.1384G>A (p.Gly462Arg) 80357221 MedGen:CN221562;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246164 41246164 C T 68897 single nucleotide variant NM_007294.3(BRCA1):c.1384G>A (p.Gly462Arg) 80357221 MedGen:CN221562;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094147 43094147 C T 68898 duplication NM_007294.3(BRCA1):c.1384_1393dupGGGAAAACCT (p.Tyr465Trpfs) 397508864 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246155 41246164 AGGTTTTCCC AGGTTTTCCCAGGTTTTCCC 68898 duplication NM_007294.3(BRCA1):c.1384_1393dupGGGAAAACCT (p.Tyr465Trpfs) 397508864 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094138 43094147 AGGTTTTCCC AGGTTTTCCCAGGTTTTCCC 68899 deletion NM_007294.3(BRCA1):c.1386delG (p.Thr464Profs) 80357722 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41246162 41246162 C - 68899 deletion NM_007294.3(BRCA1):c.1386delG (p.Thr464Profs) 80357722 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43094145 43094145 C - 68900 duplication NM_007294.3(BRCA1):c.1386dupG (p.Lys463Glufs) 397508865 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246162 41246162 C CC 68900 duplication NM_007294.3(BRCA1):c.1386dupG (p.Lys463Glufs) 397508865 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094145 43094145 C CC 68901 indel NM_007294.3(BRCA1):c.1387_1390delAAAAinsGAAAG (p.Lys463Glufs) 397508866 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145 17 41246158 41246161 TTTT CTTTC 68901 indel NM_007294.3(BRCA1):c.1387_1390delAAAAinsGAAAG (p.Lys463Glufs) 397508866 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145 17 43094141 43094144 TTTT CTTTC 68902 insertion NM_007294.3(BRCA1):c.1390_1391insG (p.Thr464Serfs) 397508867 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246157 41246158 - C 68902 insertion NM_007294.3(BRCA1):c.1390_1391insG (p.Thr464Serfs) 397508867 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094140 43094141 - C 68903 deletion NM_007294.3(BRCA1):c.1390delA (p.Thr464Profs) 80357770 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246158 41246158 T - 68903 deletion NM_007294.3(BRCA1):c.1390delA (p.Thr464Profs) 80357770 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094141 43094141 T - 68904 single nucleotide variant NM_007294.3(BRCA1):c.1391C>T (p.Thr464Ile) 62625301 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41246157 41246157 G A 68904 single nucleotide variant NM_007294.3(BRCA1):c.1391C>T (p.Thr464Ile) 62625301 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43094140 43094140 G A 68905 deletion NM_007294.3(BRCA1):c.1392delC (p.Tyr465Ilefs) 397508868 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246156 41246156 G - 68905 deletion NM_007294.3(BRCA1):c.1392delC (p.Tyr465Ilefs) 397508868 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094139 43094139 G - 68906 single nucleotide variant NM_007294.3(BRCA1):c.1393T>G (p.Tyr465Asp) 397508869 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246155 41246155 A C 68906 single nucleotide variant NM_007294.3(BRCA1):c.1393T>G (p.Tyr465Asp) 397508869 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094138 43094138 A C 68907 single nucleotide variant NM_007294.3(BRCA1):c.1396C>G (p.Arg466Gly) 80356964 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246152 41246152 G C 68907 single nucleotide variant NM_007294.3(BRCA1):c.1396C>G (p.Arg466Gly) 80356964 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094135 43094135 G C 68908 single nucleotide variant NM_007294.3(BRCA1):c.1399A>T (p.Lys467Ter) 80357279 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246149 41246149 T A 68908 single nucleotide variant NM_007294.3(BRCA1):c.1399A>T (p.Lys467Ter) 80357279 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094132 43094132 T A 68909 single nucleotide variant NM_007294.3(BRCA1):c.139T>G (p.Cys47Gly) 80357370 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258546 41258546 A C 68909 single nucleotide variant NM_007294.3(BRCA1):c.139T>G (p.Cys47Gly) 80357370 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106529 43106529 A C 68910 deletion NM_007294.3(BRCA1):c.1403delA (p.Lys468Argfs) 397508870 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246145 41246145 T - 68910 deletion NM_007294.3(BRCA1):c.1403delA (p.Lys468Argfs) 397508870 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094128 43094128 T - 68911 deletion NM_007294.3(BRCA1):c.1405delG (p.Ala469Glnfs) 397508871 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246143 41246143 C - 68911 deletion NM_007294.3(BRCA1):c.1405delG (p.Ala469Glnfs) 397508871 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094126 43094126 C - 68912 single nucleotide variant NM_007294.3(BRCA1):c.1406C>G (p.Ala469Gly) 80357073 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246142 41246142 G C 68912 single nucleotide variant NM_007294.3(BRCA1):c.1406C>G (p.Ala469Gly) 80357073 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094125 43094125 G C 68913 single nucleotide variant NM_007294.3(BRCA1):c.140G>A (p.Cys47Tyr) 80357150 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258545 41258545 C T 68913 single nucleotide variant NM_007294.3(BRCA1):c.140G>A (p.Cys47Tyr) 80357150 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106528 43106528 C T 68914 single nucleotide variant NM_007294.3(BRCA1):c.140G>T (p.Cys47Phe) 80357150 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258545 41258545 C A 68914 single nucleotide variant NM_007294.3(BRCA1):c.140G>T (p.Cys47Phe) 80357150 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106528 43106528 C A 68915 single nucleotide variant NM_007294.3(BRCA1):c.1418A>G (p.Asn473Ser) 80357057 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41246130 41246130 T C 68915 single nucleotide variant NM_007294.3(BRCA1):c.1418A>G (p.Asn473Ser) 80357057 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43094113 43094113 T C 68916 single nucleotide variant NM_007294.3(BRCA1):c.1418A>T (p.Asn473Ile) 80357057 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246130 41246130 T A 68916 single nucleotide variant NM_007294.3(BRCA1):c.1418A>T (p.Asn473Ile) 80357057 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094113 43094113 T A 68917 single nucleotide variant NM_007294.3(BRCA1):c.1421T>G (p.Leu474Ter) 80357490 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246127 41246127 A C 68917 single nucleotide variant NM_007294.3(BRCA1):c.1421T>G (p.Leu474Ter) 80357490 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094110 43094110 A C 68918 single nucleotide variant NM_007294.3(BRCA1):c.1427A>G (p.His476Arg) 55720177 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246121 41246121 T C 68918 single nucleotide variant NM_007294.3(BRCA1):c.1427A>G (p.His476Arg) 55720177 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094104 43094104 T C 68919 duplication NM_007294.3(BRCA1):c.1439dupA (p.Asn480Lysfs) 80357505 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41246109 41246109 T TT 68919 duplication NM_007294.3(BRCA1):c.1439dupA (p.Asn480Lysfs) 80357505 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43094092 43094092 T TT 68920 deletion NM_007294.3(BRCA1):c.1444delA (p.Ile482Leufs) 80357648 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246104 41246104 T - 68920 deletion NM_007294.3(BRCA1):c.1444delA (p.Ile482Leufs) 80357648 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094087 43094087 T - 68921 deletion NM_007294.3(BRCA1):c.1446_1448delTAT (p.Ile483del) 80358327 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246100 41246102 ATA - 68921 deletion NM_007294.3(BRCA1):c.1446_1448delTAT (p.Ile483del) 80358327 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094083 43094085 ATA - 68922 single nucleotide variant NM_007294.3(BRCA1):c.1448T>C (p.Ile483Thr) 80357489 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41246100 41246100 A G 68922 single nucleotide variant NM_007294.3(BRCA1):c.1448T>C (p.Ile483Thr) 80357489 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43094083 43094083 A G 68923 deletion NM_007294.3(BRCA1):c.144delG (p.Met48Ilefs) 80357682 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258541 41258541 C - 68923 deletion NM_007294.3(BRCA1):c.144delG (p.Met48Ilefs) 80357682 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106524 43106524 C - 68924 single nucleotide variant NM_007294.3(BRCA1):c.1450G>T (p.Gly484Ter) 80357304 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246098 41246098 C A 68924 single nucleotide variant NM_007294.3(BRCA1):c.1450G>T (p.Gly484Ter) 80357304 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094081 43094081 C A 68925 single nucleotide variant NM_007294.3(BRCA1):c.1456T>C (p.Phe486Leu) 55906931 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246092 41246092 A G 68925 single nucleotide variant NM_007294.3(BRCA1):c.1456T>C (p.Phe486Leu) 55906931 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094075 43094075 A G 68926 single nucleotide variant NM_007294.3(BRCA1):c.1458T>A (p.Phe486Leu) 80357400 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094073 43094073 A T 68927 single nucleotide variant NM_007294.3(BRCA1):c.1458T>G (p.Phe486Leu) 80357400 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246090 41246090 A C 68927 single nucleotide variant NM_007294.3(BRCA1):c.1458T>G (p.Phe486Leu) 80357400 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094073 43094073 A C 68928 single nucleotide variant NM_007294.3(BRCA1):c.1465G>A (p.Glu489Lys) 80357167 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246083 41246083 C T 68928 single nucleotide variant NM_007294.3(BRCA1):c.1465G>A (p.Glu489Lys) 80357167 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094066 43094066 C T 68929 single nucleotide variant NM_007294.3(BRCA1):c.1465G>T (p.Glu489Ter) 80357167 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246083 41246083 C A 68929 single nucleotide variant NM_007294.3(BRCA1):c.1465G>T (p.Glu489Ter) 80357167 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094066 43094066 C A 68930 single nucleotide variant NM_007294.3(BRCA1):c.146T>G (p.Leu49Arg) 273897660 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258539 41258539 A C 68930 single nucleotide variant NM_007294.3(BRCA1):c.146T>G (p.Leu49Arg) 273897660 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106522 43106522 A C 68931 single nucleotide variant NM_007294.3(BRCA1):c.1471C>T (p.Gln491Ter) 62625303 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41246077 41246077 G A 68931 single nucleotide variant NM_007294.3(BRCA1):c.1471C>T (p.Gln491Ter) 62625303 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43094060 43094060 G A 68932 single nucleotide variant NM_007294.3(BRCA1):c.1472A>G (p.Gln491Arg) 80357376 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246076 41246076 T C 68932 single nucleotide variant NM_007294.3(BRCA1):c.1472A>G (p.Gln491Arg) 80357376 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094059 43094059 T C 68933 deletion NM_007294.3(BRCA1):c.1483_1498del16 (p.Glu495Ilefs) 397508872 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246050 41246065 na na 68963 deletion NM_007294.3(BRCA1):c.1570delG (p.Ala524Glnfs) 397508886 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245978 41245978 C - 68933 deletion NM_007294.3(BRCA1):c.1483_1498del16 (p.Glu495Ilefs) 397508872 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094033 43094048 na na 68934 single nucleotide variant NM_007294.3(BRCA1):c.1486C>A (p.Arg496Ser) 28897676 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246062 41246062 G T 68934 single nucleotide variant NM_007294.3(BRCA1):c.1486C>A (p.Arg496Ser) 28897676 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094045 43094045 G T 68935 deletion NM_007294.3(BRCA1):c.1492delC (p.Leu498Serfs) 80357527 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246056 41246056 G - 68935 deletion NM_007294.3(BRCA1):c.1492delC (p.Leu498Serfs) 80357527 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094039 43094039 G - 68937 duplication NM_007294.3(BRCA1):c.1499_1508dupATAAATTAAA (p.Arg504Terfs) 397508873 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246040 41246049 TTTAATTTAT TTTAATTTATTTTAATTTAT 68937 duplication NM_007294.3(BRCA1):c.1499_1508dupATAAATTAAA (p.Arg504Terfs) 397508873 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094023 43094032 TTTAATTTAT TTTAATTTATTTTAATTTAT 68938 deletion NM_007294.3(BRCA1):c.1499delA (p.Asn500Ilefs) 397508874 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246049 41246049 T - 68938 deletion NM_007294.3(BRCA1):c.1499delA (p.Asn500Ilefs) 397508874 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094032 43094032 T - 68939 deletion NM_007294.3(BRCA1):c.1504_1518delTTAAAGCGTAAAAGG (p.Leu502_Arg506del) 397508875 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246030 41246044 CCTTTTACGCTTTAA - 68939 deletion NM_007294.3(BRCA1):c.1504_1518delTTAAAGCGTAAAAGG (p.Leu502_Arg506del) 397508875 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094013 43094027 CCTTTTACGCTTTAA - 68940 deletion NM_007294.3(BRCA1):c.1506_1510delAAAGC (p.Lys503Terfs) 397508876 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246038 41246042 GCTTT - 68940 deletion NM_007294.3(BRCA1):c.1506_1510delAAAGC (p.Lys503Terfs) 397508876 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094021 43094025 GCTTT - 68941 single nucleotide variant NM_007294.3(BRCA1):c.1508A>G (p.Lys503Arg) 62625304 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246040 41246040 T C 68941 single nucleotide variant NM_007294.3(BRCA1):c.1508A>G (p.Lys503Arg) 62625304 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094023 43094023 T C 68942 deletion NM_007294.3(BRCA1):c.1508delA (p.Lys503Serfs) 80357506 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246040 41246040 T - 68942 deletion NM_007294.3(BRCA1):c.1508delA (p.Lys503Serfs) 80357506 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094023 43094023 T - 68943 deletion NM_007294.3(BRCA1):c.150delA (p.Lys50Asnfs) 273897662 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258535 41258535 T - 68943 deletion NM_007294.3(BRCA1):c.150delA (p.Lys50Asnfs) 273897662 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106518 43106518 T - 68944 single nucleotide variant NM_007294.3(BRCA1):c.1510C>T (p.Arg504Cys) 80357445 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246038 41246038 G A 68944 single nucleotide variant NM_007294.3(BRCA1):c.1510C>T (p.Arg504Cys) 80357445 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094021 43094021 G A 68945 single nucleotide variant NM_007294.3(BRCA1):c.1511G>A (p.Arg504His) 56272539 MedGen:CN221562;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246037 41246037 C T 68945 single nucleotide variant NM_007294.3(BRCA1):c.1511G>A (p.Arg504His) 56272539 MedGen:CN221562;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094020 43094020 C T 68946 duplication NM_007294.3(BRCA1):c.1511dupG (p.Lys505Terfs) 80357817 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246037 41246037 C CC 68946 duplication NM_007294.3(BRCA1):c.1511dupG (p.Lys505Terfs) 80357817 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094020 43094020 C CC 68947 single nucleotide variant NM_007294.3(BRCA1):c.1513A>T (p.Lys505Ter) 397508877 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246035 41246035 T A 68947 single nucleotide variant NM_007294.3(BRCA1):c.1513A>T (p.Lys505Ter) 397508877 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094018 43094018 T A 68948 insertion NM_007294.3(BRCA1):c.1513_1514insT (p.Lys505Ilefs) 397508878 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246034 41246035 - A 68948 insertion NM_007294.3(BRCA1):c.1513_1514insT (p.Lys505Ilefs) 397508878 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094017 43094018 - A 68949 deletion NM_007294.3(BRCA1):c.1517_1521delGGAGA (p.Arg506Thrfs) 397508879 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246027 41246031 TCTCC - 68949 deletion NM_007294.3(BRCA1):c.1517_1521delGGAGA (p.Arg506Thrfs) 397508879 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094010 43094014 TCTCC - 68950 single nucleotide variant NM_007294.3(BRCA1):c.1519A>T (p.Arg507Ter) 397508880 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246029 41246029 T A 68950 single nucleotide variant NM_007294.3(BRCA1):c.1519A>T (p.Arg507Ter) 397508880 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094012 43094012 T A 68951 single nucleotide variant NM_007294.3(BRCA1):c.1520G>T (p.Arg507Ile) 80357224 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246028 41246028 C A 68951 single nucleotide variant NM_007294.3(BRCA1):c.1520G>T (p.Arg507Ile) 80357224 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094011 43094011 C A 68952 deletion NM_007294.3(BRCA1):c.1523delC (p.Pro508Leufs) 80357782 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246025 41246025 G - 68952 deletion NM_007294.3(BRCA1):c.1523delC (p.Pro508Leufs) 80357782 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094008 43094008 G - 68953 single nucleotide variant NM_007294.3(BRCA1):c.1529C>G (p.Ser510Ter) 80357427 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246019 41246019 G C 68953 single nucleotide variant NM_007294.3(BRCA1):c.1529C>G (p.Ser510Ter) 80357427 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094002 43094002 G C 68954 deletion NM_007294.3(BRCA1):c.1530delA (p.Gly511Alafs) 80357735 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41246018 41246018 T - 68954 deletion NM_007294.3(BRCA1):c.1530delA (p.Gly511Alafs) 80357735 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43094001 43094001 T - 68955 single nucleotide variant NM_007294.3(BRCA1):c.1544A>G (p.Glu515Gly) 397508881 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246004 41246004 T C 68955 single nucleotide variant NM_007294.3(BRCA1):c.1544A>G (p.Glu515Gly) 397508881 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093987 43093987 T C 68956 deletion NM_007294.3(BRCA1):c.1551delT (p.Phe517Leufs) 80357630 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41245997 41245997 A - 68956 deletion NM_007294.3(BRCA1):c.1551delT (p.Phe517Leufs) 80357630 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43093980 43093980 A - 68957 single nucleotide variant NM_007294.3(BRCA1):c.1555A>C (p.Lys519Gln) 397508882 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245993 41245993 T G 68957 single nucleotide variant NM_007294.3(BRCA1):c.1555A>C (p.Lys519Gln) 397508882 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093976 43093976 T G 68958 single nucleotide variant NM_007294.3(BRCA1):c.1561G>A (p.Ala521Thr) 80357122 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245987 41245987 C T 68958 single nucleotide variant NM_007294.3(BRCA1):c.1561G>A (p.Ala521Thr) 80357122 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093970 43093970 C T 68959 indel NM_007294.3(BRCA1):c.1561_1564delGCAGinsTAAA (p.Ala521Ter) 397508883 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245984 41245987 CTGC TTTA 68959 indel NM_007294.3(BRCA1):c.1561_1564delGCAGinsTAAA (p.Ala521Ter) 397508883 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093967 43093970 CTGC TTTA 68960 single nucleotide variant NM_007294.3(BRCA1):c.1564G>A (p.Asp522Asn) 80357453 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245984 41245984 C T 68960 single nucleotide variant NM_007294.3(BRCA1):c.1564G>A (p.Asp522Asn) 80357453 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093967 43093967 C T 68961 insertion NM_007294.3(BRCA1):c.1565_1566insC (p.Leu523Phefs) 397508884 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245982 41245983 - G 68961 insertion NM_007294.3(BRCA1):c.1565_1566insC (p.Leu523Phefs) 397508884 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093965 43093966 - G 68962 single nucleotide variant NM_007294.3(BRCA1):c.1568T>G (p.Leu523Trp) 397508885 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245980 41245980 A C 68962 single nucleotide variant NM_007294.3(BRCA1):c.1568T>G (p.Leu523Trp) 397508885 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093963 43093963 A C 68964 single nucleotide variant NM_007294.3(BRCA1):c.1571C>T (p.Ala524Val) 80357333 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245977 41245977 G A 68964 single nucleotide variant NM_007294.3(BRCA1):c.1571C>T (p.Ala524Val) 80357333 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093960 43093960 G A 68965 single nucleotide variant NM_007294.3(BRCA1):c.1573G>A (p.Val525Ile) 80357273 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245975 41245975 C T 68965 single nucleotide variant NM_007294.3(BRCA1):c.1573G>A (p.Val525Ile) 80357273 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093958 43093958 C T 68966 single nucleotide variant NM_007294.3(BRCA1):c.1576C>T (p.Gln526Ter) 80356984 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245972 41245972 G A 68966 single nucleotide variant NM_007294.3(BRCA1):c.1576C>T (p.Gln526Ter) 80356984 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093955 43093955 G A 68967 single nucleotide variant NM_007294.3(BRCA1):c.1581G>C (p.Lys527Asn) 80357493 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245967 41245967 C G 68967 single nucleotide variant NM_007294.3(BRCA1):c.1581G>C (p.Lys527Asn) 80357493 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093950 43093950 C G 68968 deletion NM_007294.3(BRCA1):c.1583_1589delCTCCTGA (p.Thr528Lysfs) 80357613 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245959 41245965 TCAGGAG - 68968 deletion NM_007294.3(BRCA1):c.1583_1589delCTCCTGA (p.Thr528Lysfs) 80357613 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093942 43093948 TCAGGAG - 68969 deletion NM_007294.3(BRCA1):c.1595_1601delTAAATCA (p.Ile532Argfs) 397508888 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245947 41245953 TGATTTA - 68969 deletion NM_007294.3(BRCA1):c.1595_1601delTAAATCA (p.Ile532Argfs) 397508888 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093930 43093936 TGATTTA - 68992 single nucleotide variant NM_007294.3(BRCA1):c.168A>T (p.Lys56Asn) 397508898 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258517 41258517 T A 68970 single nucleotide variant NM_007294.3(BRCA1):c.1600C>T (p.Gln534Ter) 142074233 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41245948 41245948 G A 68970 single nucleotide variant NM_007294.3(BRCA1):c.1600C>T (p.Gln534Ter) 142074233 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43093931 43093931 G A 68971 single nucleotide variant NM_007294.3(BRCA1):c.1601A>G (p.Gln534Arg) 80357173 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245947 41245947 T C 68971 single nucleotide variant NM_007294.3(BRCA1):c.1601A>G (p.Gln534Arg) 80357173 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093930 43093930 T C 68972 duplication NM_007294.3(BRCA1):c.1601dupA (p.Thr536Asnfs) 397508889 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245947 41245947 T TT 68972 duplication NM_007294.3(BRCA1):c.1601dupA (p.Thr536Asnfs) 397508889 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093930 43093930 T TT 68973 deletion NM_007294.3(BRCA1):c.1608_1611delTAAC (p.Asn537Lysfs) 80357698 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245937 41245940 GTTA - 68973 deletion NM_007294.3(BRCA1):c.1608_1611delTAAC (p.Asn537Lysfs) 80357698 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093920 43093923 GTTA - 68974 single nucleotide variant NM_007294.3(BRCA1):c.160C>T (p.Gln54Ter) 80356864 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41258525 41258525 G A 68974 single nucleotide variant NM_007294.3(BRCA1):c.160C>T (p.Gln54Ter) 80356864 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43106508 43106508 G A 68975 deletion NM_007294.3(BRCA1):c.160delC (p.Gln54Argfs) 397508890 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258525 41258525 G - 68975 deletion NM_007294.3(BRCA1):c.160delC (p.Gln54Argfs) 397508890 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106508 43106508 G - 68976 single nucleotide variant NM_007294.3(BRCA1):c.1612C>T (p.Gln538Ter) 80356893 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245936 41245936 G A 68976 single nucleotide variant NM_007294.3(BRCA1):c.1612C>T (p.Gln538Ter) 80356893 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093919 43093919 G A 68992 single nucleotide variant NM_007294.3(BRCA1):c.168A>T (p.Lys56Asn) 397508898 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106500 43106500 T A 68977 single nucleotide variant NM_007294.3(BRCA1):c.1616C>T (p.Thr539Met) 80357374 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245932 41245932 G A 68977 single nucleotide variant NM_007294.3(BRCA1):c.1616C>T (p.Thr539Met) 80357374 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093915 43093915 G A 68978 single nucleotide variant NM_007294.3(BRCA1):c.1621C>T (p.Gln541Ter) 80356904 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245927 41245927 G A 68978 single nucleotide variant NM_007294.3(BRCA1):c.1621C>T (p.Gln541Ter) 80356904 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093910 43093910 G A 68979 duplication NM_007294.3(BRCA1):c.1623dupG (p.Asn542Glufs) 397508891 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245925 41245925 C CC 68979 duplication NM_007294.3(BRCA1):c.1623dupG (p.Asn542Glufs) 397508891 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093908 43093908 C CC 68980 single nucleotide variant NM_007294.3(BRCA1):c.1630C>T (p.Gln544Ter) 80356952 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245918 41245918 G A 68980 single nucleotide variant NM_007294.3(BRCA1):c.1630C>T (p.Gln544Ter) 80356952 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093901 43093901 G A 68981 single nucleotide variant NM_007294.3(BRCA1):c.1631A>C (p.Gln544Pro) 397508892 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245917 41245917 T G 68981 single nucleotide variant NM_007294.3(BRCA1):c.1631A>C (p.Gln544Pro) 397508892 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093900 43093900 T G 68982 deletion NM_007294.3(BRCA1):c.1636_1654del19 (p.Met546Valfs) 80359881 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245894 41245912 na na 68982 deletion NM_007294.3(BRCA1):c.1636_1654del19 (p.Met546Valfs) 80359881 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093877 43093895 na na 68983 single nucleotide variant NM_007294.3(BRCA1):c.1642A>G (p.Ile548Val) 80356981 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245906 41245906 T C 68983 single nucleotide variant NM_007294.3(BRCA1):c.1642A>G (p.Ile548Val) 80356981 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093889 43093889 T C 68984 deletion NM_007294.3(BRCA1):c.1648_1860del213 (p.Asn550_Ile620del) 80359886 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245688 41245900 na na 68984 deletion NM_007294.3(BRCA1):c.1648_1860del213 (p.Asn550_Ile620del) 80359886 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093671 43093883 na na 68985 deletion NM_007294.3(BRCA1):c.1649delA (p.Asn550Ilefs) 80357619 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245899 41245899 T - 68985 deletion NM_007294.3(BRCA1):c.1649delA (p.Asn550Ilefs) 80357619 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093882 43093882 T - 68986 single nucleotide variant NM_007294.3(BRCA1):c.1655G>T (p.Gly552Val) 397508893 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245893 41245893 C A 68986 single nucleotide variant NM_007294.3(BRCA1):c.1655G>T (p.Gly552Val) 397508893 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093876 43093876 C A 68987 single nucleotide variant NM_007294.3(BRCA1):c.1660G>T (p.Glu554Ter) 397508894 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245888 41245888 C A 68987 single nucleotide variant NM_007294.3(BRCA1):c.1660G>T (p.Glu554Ter) 397508894 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093871 43093871 C A 68988 single nucleotide variant NM_007294.3(BRCA1):c.1669A>G (p.Thr557Ala) 397508895 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245879 41245879 T C 68988 single nucleotide variant NM_007294.3(BRCA1):c.1669A>G (p.Thr557Ala) 397508895 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093862 43093862 T C 68989 deletion NM_007294.3(BRCA1):c.1673_1674delAA (p.Lys558Argfs) 397508896 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41245874 41245875 TT - 68989 deletion NM_007294.3(BRCA1):c.1673_1674delAA (p.Lys558Argfs) 397508896 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43093857 43093858 TT - 68990 single nucleotide variant NM_007294.3(BRCA1):c.1676G>T (p.Gly559Val) 80356980 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245872 41245872 C A 68990 single nucleotide variant NM_007294.3(BRCA1):c.1676G>T (p.Gly559Val) 80356980 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093855 43093855 C A 68991 single nucleotide variant NM_007294.3(BRCA1):c.167A>G (p.Lys56Arg) 397508897 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258518 41258518 T C 68991 single nucleotide variant NM_007294.3(BRCA1):c.167A>G (p.Lys56Arg) 397508897 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106501 43106501 T C 68993 single nucleotide variant NM_007294.3(BRCA1):c.1690A>C (p.Asn564His) 397507191 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093841 43093841 T G 68994 deletion NM_007294.3(BRCA1):c.1700delA (p.Asn567Ilefs) 397508899 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245848 41245848 T - 68994 deletion NM_007294.3(BRCA1):c.1700delA (p.Asn567Ilefs) 397508899 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093831 43093831 T - 68995 single nucleotide variant NM_007294.3(BRCA1):c.1703C>G (p.Pro568Arg) 80356910 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245845 41245845 G C 68995 single nucleotide variant NM_007294.3(BRCA1):c.1703C>G (p.Pro568Arg) 80356910 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093828 43093828 G C 68996 single nucleotide variant NM_007294.3(BRCA1):c.1703C>T (p.Pro568Leu) 80356910 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245845 41245845 G A 68996 single nucleotide variant NM_007294.3(BRCA1):c.1703C>T (p.Pro568Leu) 80356910 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093828 43093828 G A 68997 single nucleotide variant NM_007294.3(BRCA1):c.1712T>C (p.Ile571Thr) 80357159 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245836 41245836 A G 68997 single nucleotide variant NM_007294.3(BRCA1):c.1712T>C (p.Ile571Thr) 80357159 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093819 43093819 A G 68998 deletion NM_007294.3(BRCA1):c.1713_1717delAGAAT (p.Glu572Thrfs) 80357640 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245831 41245835 ATTCT - 68998 deletion NM_007294.3(BRCA1):c.1713_1717delAGAAT (p.Glu572Thrfs) 80357640 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093814 43093818 ATTCT - 68999 deletion NM_007294.3(BRCA1):c.1716delA (p.Glu572Aspfs) 397508900 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245832 41245832 T - 68999 deletion NM_007294.3(BRCA1):c.1716delA (p.Glu572Aspfs) 397508900 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093815 43093815 T - 69000 duplication NM_007294.3(BRCA1):c.1716dupA (p.Ser573Ilefs) 397508901 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245832 41245832 T TT 69001 single nucleotide variant NM_007294.3(BRCA1):c.1723G>A (p.Glu575Lys) 397508902 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245825 41245825 C T 69001 single nucleotide variant NM_007294.3(BRCA1):c.1723G>A (p.Glu575Lys) 397508902 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093808 43093808 C T 69002 single nucleotide variant NM_007294.3(BRCA1):c.1729G>T (p.Glu577Ter) 397508903 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245819 41245819 C A 69002 single nucleotide variant NM_007294.3(BRCA1):c.1729G>T (p.Glu577Ter) 397508903 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093802 43093802 C A 69003 deletion NM_007294.3(BRCA1):c.1729_1730delGA (p.Glu577Ilefs) 80357834 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245818 41245819 TC - 69003 deletion NM_007294.3(BRCA1):c.1729_1730delGA (p.Glu577Ilefs) 80357834 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093801 43093802 TC - 69004 single nucleotide variant NM_007294.3(BRCA1):c.172C>G (p.Pro58Ala) 397508904 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258513 41258513 G C 69004 single nucleotide variant NM_007294.3(BRCA1):c.172C>G (p.Pro58Ala) 397508904 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106496 43106496 G C 69005 single nucleotide variant NM_007294.3(BRCA1):c.1733C>A (p.Ser578Tyr) 80356939 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245815 41245815 G T 69005 single nucleotide variant NM_007294.3(BRCA1):c.1733C>A (p.Ser578Tyr) 80356939 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093798 43093798 G T 69006 single nucleotide variant NM_007294.3(BRCA1):c.1741A>T (p.Lys581Ter) 397508905 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245807 41245807 T A 69006 single nucleotide variant NM_007294.3(BRCA1):c.1741A>T (p.Lys581Ter) 397508905 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093790 43093790 T A 69007 single nucleotide variant NM_007294.3(BRCA1):c.1744A>G (p.Thr582Ala) 397508906 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245804 41245804 T C 69007 single nucleotide variant NM_007294.3(BRCA1):c.1744A>G (p.Thr582Ala) 397508906 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093787 43093787 T C 69008 single nucleotide variant NM_007294.3(BRCA1):c.1747A>T (p.Lys583Ter) 80356928 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245801 41245801 T A 69008 single nucleotide variant NM_007294.3(BRCA1):c.1747A>T (p.Lys583Ter) 80356928 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093784 43093784 T A 69009 single nucleotide variant NM_007294.3(BRCA1):c.1756C>T (p.Pro586Ser) 80357153 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245792 41245792 G A 69009 single nucleotide variant NM_007294.3(BRCA1):c.1756C>T (p.Pro586Ser) 80357153 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093775 43093775 G A 69010 deletion NM_007294.3(BRCA1):c.1757delC (p.Pro586Leufs) 80357723 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245791 41245791 G - 69010 deletion NM_007294.3(BRCA1):c.1757delC (p.Pro586Leufs) 80357723 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093774 43093774 G - 69011 single nucleotide variant NM_007294.3(BRCA1):c.1768A>G (p.Ser590Gly) 80357454 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245780 41245780 T C 69011 single nucleotide variant NM_007294.3(BRCA1):c.1768A>G (p.Ser590Gly) 80357454 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093763 43093763 T C 69012 single nucleotide variant NM_007294.3(BRCA1):c.1772T>C (p.Ile591Thr) 80356859 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245776 41245776 A G 69012 single nucleotide variant NM_007294.3(BRCA1):c.1772T>C (p.Ile591Thr) 80356859 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093759 43093759 A G 69013 deletion NM_007294.3(BRCA1):c.1772delT (p.Ile591Lysfs) 80357901 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245776 41245776 A - 69013 deletion NM_007294.3(BRCA1):c.1772delT (p.Ile591Lysfs) 80357901 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093759 43093759 A - 69014 single nucleotide variant NM_007294.3(BRCA1):c.1786C>G (p.Leu596Val) 80357371 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245762 41245762 G C 69014 single nucleotide variant NM_007294.3(BRCA1):c.1786C>G (p.Leu596Val) 80357371 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093745 43093745 G C 69015 single nucleotide variant NM_007294.3(BRCA1):c.1789G>T (p.Glu597Ter) 55650082 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245759 41245759 C A 69015 single nucleotide variant NM_007294.3(BRCA1):c.1789G>T (p.Glu597Ter) 55650082 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093742 43093742 C A 69016 single nucleotide variant NM_007294.3(BRCA1):c.178C>T (p.Gln60Ter) 80357471 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258507 41258507 G A 69016 single nucleotide variant NM_007294.3(BRCA1):c.178C>T (p.Gln60Ter) 80357471 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106490 43106490 G A 69017 deletion NM_007294.3(BRCA1):c.178_179delCA (p.Gln60Valfs) 397508907 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258506 41258507 TG - 69017 deletion NM_007294.3(BRCA1):c.178_179delCA (p.Gln60Valfs) 397508907 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106489 43106490 TG - 69018 single nucleotide variant NM_007294.3(BRCA1):c.1793T>A (p.Leu598Ter) 80357118 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245755 41245755 A T 69018 single nucleotide variant NM_007294.3(BRCA1):c.1793T>A (p.Leu598Ter) 80357118 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093738 43093738 A T 69019 single nucleotide variant NM_007294.3(BRCA1):c.1793T>G (p.Leu598Ter) 80357118 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245755 41245755 A C 69019 single nucleotide variant NM_007294.3(BRCA1):c.1793T>G (p.Leu598Ter) 80357118 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093738 43093738 A C 69020 deletion NM_007294.3(BRCA1):c.179delA (p.Gln60Argfs) 80357591 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258506 41258506 T - 69020 deletion NM_007294.3(BRCA1):c.179delA (p.Gln60Argfs) 80357591 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106489 43106489 T - 69021 single nucleotide variant NM_007294.3(BRCA1):c.1800C>G (p.Ile600Met) 80357452 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245748 41245748 G C 69021 single nucleotide variant NM_007294.3(BRCA1):c.1800C>G (p.Ile600Met) 80357452 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093731 43093731 G C 69022 deletion NM_007294.3(BRCA1):c.1805delA (p.Asn602Ilefs) 397508908 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245743 41245743 T - 69037 duplication NM_007294.3(BRCA1):c.1846dupT (p.Ser616Phefs) 397508914 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093685 43093685 A AA 69022 deletion NM_007294.3(BRCA1):c.1805delA (p.Asn602Ilefs) 397508908 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093726 43093726 T - 69023 single nucleotide variant NM_007294.3(BRCA1):c.1808C>G (p.Ser603Ter) 397508909 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245740 41245740 G C 69023 single nucleotide variant NM_007294.3(BRCA1):c.1808C>G (p.Ser603Ter) 397508909 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093723 43093723 G C 69024 deletion NM_007294.3(BRCA1):c.1817delC (p.Pro606Leufs) 397508910 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245731 41245731 G - 69024 deletion NM_007294.3(BRCA1):c.1817delC (p.Pro606Leufs) 397508910 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093714 43093714 G - 69025 single nucleotide variant NM_007294.3(BRCA1):c.1819A>T (p.Lys607Ter) 80357220 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245729 41245729 T A 69025 single nucleotide variant NM_007294.3(BRCA1):c.1819A>T (p.Lys607Ter) 80357220 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093712 43093712 T A 69026 single nucleotide variant NM_007294.3(BRCA1):c.181T>A (p.Cys61Ser) 28897672 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258504 41258504 A T 69026 single nucleotide variant NM_007294.3(BRCA1):c.181T>A (p.Cys61Ser) 28897672 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106487 43106487 A T 69027 single nucleotide variant NM_007294.3(BRCA1):c.181T>C (p.Cys61Arg) 28897672 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258504 41258504 A G 69027 single nucleotide variant NM_007294.3(BRCA1):c.181T>C (p.Cys61Arg) 28897672 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106487 43106487 A G 69028 deletion NM_007294.3(BRCA1):c.1823_1826delAGAA (p.Lys608Ilefs) 80357585 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245722 41245725 TTCT - 69028 deletion NM_007294.3(BRCA1):c.1823_1826delAGAA (p.Lys608Ilefs) 80357585 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093705 43093708 TTCT - 69029 deletion NM_007294.3(BRCA1):c.1823delA (p.Lys608Argfs) 397508911 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245725 41245725 T - 69029 deletion NM_007294.3(BRCA1):c.1823delA (p.Lys608Argfs) 397508911 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093708 43093708 T - 69031 single nucleotide variant NM_007294.3(BRCA1):c.182G>A (p.Cys61Tyr) 80357093 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41258503 41258503 C T 69031 single nucleotide variant NM_007294.3(BRCA1):c.182G>A (p.Cys61Tyr) 80357093 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43106486 43106486 C T 69032 deletion NM_007294.3(BRCA1):c.182_183delGT (p.Cys61Serfs) 397508912 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258502 41258503 AC - 69032 deletion NM_007294.3(BRCA1):c.182_183delGT (p.Cys61Serfs) 397508912 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106485 43106486 AC - 69033 deletion NM_007294.3(BRCA1):c.1831delC (p.Leu611Terfs) 397508913 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245717 41245717 G - 69033 deletion NM_007294.3(BRCA1):c.1831delC (p.Leu611Terfs) 397508913 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093700 43093700 G - 69034 single nucleotide variant NM_007294.3(BRCA1):c.1834A>G (p.Arg612Gly) 80357245 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245714 41245714 T C 69034 single nucleotide variant NM_007294.3(BRCA1):c.1834A>G (p.Arg612Gly) 80357245 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093697 43093697 T C 69035 deletion NM_007294.3(BRCA1):c.1837delA (p.Arg613Glyfs) 80357652 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245711 41245711 T - 69035 deletion NM_007294.3(BRCA1):c.1837delA (p.Arg613Glyfs) 80357652 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093694 43093694 T - 69036 single nucleotide variant NM_007294.3(BRCA1):c.1840A>T (p.Lys614Ter) 80357282 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245708 41245708 T A 69036 single nucleotide variant NM_007294.3(BRCA1):c.1840A>T (p.Lys614Ter) 80357282 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093691 43093691 T A 69037 duplication NM_007294.3(BRCA1):c.1846dupT (p.Ser616Phefs) 397508914 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245702 41245702 A AA 69038 single nucleotide variant NM_007294.3(BRCA1):c.1865C>T (p.Ala622Val) 56039126 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245683 41245683 G A 69038 single nucleotide variant NM_007294.3(BRCA1):c.1865C>T (p.Ala622Val) 56039126 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093666 43093666 G A 69039 single nucleotide variant NM_007294.3(BRCA1):c.1866G>T (p.Ala622=) 1800064 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245682 41245682 C A 69039 single nucleotide variant NM_007294.3(BRCA1):c.1866G>T (p.Ala622=) 1800064 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093665 43093665 C A 69040 single nucleotide variant NM_007294.3(BRCA1):c.1868T>C (p.Leu623Pro) 397508915 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245680 41245680 A G 69040 single nucleotide variant NM_007294.3(BRCA1):c.1868T>C (p.Leu623Pro) 397508915 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093663 43093663 A G 69041 single nucleotide variant NM_007294.3(BRCA1):c.1870G>A (p.Glu624Lys) 80356950 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245678 41245678 C T 69041 single nucleotide variant NM_007294.3(BRCA1):c.1870G>A (p.Glu624Lys) 80356950 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093661 43093661 C T 69042 single nucleotide variant NM_007294.3(BRCA1):c.1870G>T (p.Glu624Ter) 80356950 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245678 41245678 C A 69042 single nucleotide variant NM_007294.3(BRCA1):c.1870G>T (p.Glu624Ter) 80356950 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093661 43093661 C A 69043 duplication NM_007294.3(BRCA1):c.1874_1877dupTAGT (p.Val627Serfs) 80357516 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41245671 41245674 ACTA ACTAACTA 69043 duplication NM_007294.3(BRCA1):c.1874_1877dupTAGT (p.Val627Serfs) 80357516 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43093654 43093657 ACTA ACTAACTA 69130 duplication NM_007294.3(BRCA1):c.211dupA (p.Arg71Lysfs) 397508938 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258474 41258474 T TT 69044 single nucleotide variant NM_007294.3(BRCA1):c.1879G>A (p.Val627Ile) 80357425 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245669 41245669 C T 69044 single nucleotide variant NM_007294.3(BRCA1):c.1879G>A (p.Val627Ile) 80357425 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093652 43093652 C T 69045 single nucleotide variant NM_007294.3(BRCA1):c.1881C>G (p.Val627=) 80356838 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245667 41245667 G C 69045 single nucleotide variant NM_007294.3(BRCA1):c.1881C>G (p.Val627=) 80356838 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093650 43093650 G C 69046 deletion NM_007294.3(BRCA1):c.1881_1884delCAGT (p.Ser628Glufs) 80357567 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41245664 41245667 ACTG - 69046 deletion NM_007294.3(BRCA1):c.1881_1884delCAGT (p.Ser628Glufs) 80357567 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43093647 43093650 ACTG - 69047 single nucleotide variant NM_007294.3(BRCA1):c.1884T>G (p.Ser628Arg) 80357495 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245664 41245664 A C 69047 single nucleotide variant NM_007294.3(BRCA1):c.1884T>G (p.Ser628Arg) 80357495 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093647 43093647 A C 69048 single nucleotide variant NM_007294.3(BRCA1):c.188T>A (p.Leu63Ter) 80357086 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41258497 41258497 A T 69048 single nucleotide variant NM_007294.3(BRCA1):c.188T>A (p.Leu63Ter) 80357086 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43106480 43106480 A T 69049 single nucleotide variant NM_007294.3(BRCA1):c.188T>C (p.Leu63Ser) 80357086 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258497 41258497 A G 69049 single nucleotide variant NM_007294.3(BRCA1):c.188T>C (p.Leu63Ser) 80357086 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106480 43106480 A G 69050 duplication NM_007294.3(BRCA1):c.1892dupT (p.Ser632Lysfs) 80357932 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245656 41245656 A AA 69050 duplication NM_007294.3(BRCA1):c.1892dupT (p.Ser632Lysfs) 80357932 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093639 43093639 A AA 69051 single nucleotide variant NM_007294.3(BRCA1):c.1893A>G (p.Leu631=) 80356834 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245655 41245655 T C 69051 single nucleotide variant NM_007294.3(BRCA1):c.1893A>G (p.Leu631=) 80356834 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093638 43093638 T C 69052 single nucleotide variant NM_007294.3(BRCA1):c.1895G>A (p.Ser632Asn) 80356983 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245653 41245653 C T 69052 single nucleotide variant NM_007294.3(BRCA1):c.1895G>A (p.Ser632Asn) 80356983 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093636 43093636 C T 69053 single nucleotide variant NM_007294.3(BRCA1):c.1897C>A (p.Pro633Thr) 80356902 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245651 41245651 G T 69053 single nucleotide variant NM_007294.3(BRCA1):c.1897C>A (p.Pro633Thr) 80356902 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093634 43093634 G T 69054 single nucleotide variant NM_007294.3(BRCA1):c.1897C>T (p.Pro633Ser) 80356902 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41245651 41245651 G A 69054 single nucleotide variant NM_007294.3(BRCA1):c.1897C>T (p.Pro633Ser) 80356902 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43093634 43093634 G A 69055 deletion NM_007294.3(BRCA1):c.1898delC (p.Pro633Hisfs) 80357851 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245650 41245650 G - 69055 deletion NM_007294.3(BRCA1):c.1898delC (p.Pro633Hisfs) 80357851 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093633 43093633 G - 69056 single nucleotide variant NM_007294.3(BRCA1):c.189A>T (p.Leu63Phe) 80356956 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41258496 41258496 T A 69056 single nucleotide variant NM_007294.3(BRCA1):c.189A>T (p.Leu63Phe) 80356956 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43106479 43106479 T A 69057 duplication NM_007294.3(BRCA1):c.189dupA (p.Cys64Metfs) 273897665 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258496 41258496 T TT 69057 duplication NM_007294.3(BRCA1):c.189dupA (p.Cys64Metfs) 273897665 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106479 43106479 T TT 69058 single nucleotide variant NM_007294.3(BRCA1):c.1900C>T (p.Pro634Ser) 80357056 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245648 41245648 G A 69058 single nucleotide variant NM_007294.3(BRCA1):c.1900C>T (p.Pro634Ser) 80357056 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093631 43093631 G A 69059 single nucleotide variant NM_007294.3(BRCA1):c.1901C>G (p.Pro634Arg) 80357121 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245647 41245647 G C 69059 single nucleotide variant NM_007294.3(BRCA1):c.1901C>G (p.Pro634Arg) 80357121 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093630 43093630 G C 69060 deletion NM_007294.3(BRCA1):c.1906delT (p.Cys636Valfs) 397508916 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245642 41245642 A - 69060 deletion NM_007294.3(BRCA1):c.1906delT (p.Cys636Valfs) 397508916 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093625 43093625 A - 69061 single nucleotide variant NM_007294.3(BRCA1):c.190T>C (p.Cys64Arg) 80357064 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41258495 41258495 A G 69061 single nucleotide variant NM_007294.3(BRCA1):c.190T>C (p.Cys64Arg) 80357064 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43106478 43106478 A G 69062 deletion NM_007294.3(BRCA1):c.190_193delTGTA (p.Cys64Argfs) 397508917 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258492 41258495 TACA - 69062 deletion NM_007294.3(BRCA1):c.190_193delTGTA (p.Cys64Argfs) 397508917 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106475 43106478 TACA - 69063 single nucleotide variant NM_007294.3(BRCA1):c.1911T>C (p.Thr637=) 62625305 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245637 41245637 A G 69063 single nucleotide variant NM_007294.3(BRCA1):c.1911T>C (p.Thr637=) 62625305 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093620 43093620 A G 69064 single nucleotide variant NM_007294.3(BRCA1):c.1912G>T (p.Glu638Ter) 80357005 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245636 41245636 C A 69064 single nucleotide variant NM_007294.3(BRCA1):c.1912G>T (p.Glu638Ter) 80357005 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093619 43093619 C A 69065 deletion NM_007294.3(BRCA1):c.1912delG (p.Glu638Asnfs) 80357933 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245636 41245636 C - 69065 deletion NM_007294.3(BRCA1):c.1912delG (p.Glu638Asnfs) 80357933 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093619 43093619 C - 69066 single nucleotide variant NM_007294.3(BRCA1):c.1916T>A (p.Leu639Ter) 80357267 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41245632 41245632 A T 69066 single nucleotide variant NM_007294.3(BRCA1):c.1916T>A (p.Leu639Ter) 80357267 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43093615 43093615 A T 69067 single nucleotide variant NM_007294.3(BRCA1):c.191G>A (p.Cys64Tyr) 55851803 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41258494 41258494 C T 69067 single nucleotide variant NM_007294.3(BRCA1):c.191G>A (p.Cys64Tyr) 55851803 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43106477 43106477 C T 69068 single nucleotide variant NM_007294.3(BRCA1):c.1924G>C (p.Asp642His) 80357344 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245624 41245624 C G 69068 single nucleotide variant NM_007294.3(BRCA1):c.1924G>C (p.Asp642His) 80357344 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093607 43093607 C G 69069 single nucleotide variant NM_007294.3(BRCA1):c.1927A>G (p.Ser643Gly) 80357105 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 41245621 41245621 T C 69069 single nucleotide variant NM_007294.3(BRCA1):c.1927A>G (p.Ser643Gly) 80357105 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 43093604 43093604 T C 69070 single nucleotide variant NM_007294.3(BRCA1):c.1932T>G (p.Cys644Trp) 397508918 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245616 41245616 A C 69070 single nucleotide variant NM_007294.3(BRCA1):c.1932T>G (p.Cys644Trp) 397508918 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093599 43093599 A C 69071 single nucleotide variant NM_007294.3(BRCA1):c.1934C>A (p.Ser645Tyr) 80357129 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245614 41245614 G T 69071 single nucleotide variant NM_007294.3(BRCA1):c.1934C>A (p.Ser645Tyr) 80357129 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093597 43093597 G T 69072 deletion NM_007294.3(BRCA1):c.1936delA (p.Ser646Alafs) 397508919 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245612 41245612 T - 69072 deletion NM_007294.3(BRCA1):c.1936delA (p.Ser646Alafs) 397508919 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093595 43093595 T - 69073 deletion NM_007294.3(BRCA1):c.1938_1947delCAGTGAAGAG (p.Ser646Argfs) 397508920 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245601 41245610 CTCTTCACTG - 69073 deletion NM_007294.3(BRCA1):c.1938_1947delCAGTGAAGAG (p.Ser646Argfs) 397508920 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093584 43093593 CTCTTCACTG - 69074 single nucleotide variant NM_007294.3(BRCA1):c.1945G>C (p.Glu649Gln) 80356907 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245603 41245603 C G 69074 single nucleotide variant NM_007294.3(BRCA1):c.1945G>C (p.Glu649Gln) 80356907 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093586 43093586 C G 69075 single nucleotide variant NM_007294.3(BRCA1):c.1945G>T (p.Glu649Ter) 80356907 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245603 41245603 C A 69075 single nucleotide variant NM_007294.3(BRCA1):c.1945G>T (p.Glu649Ter) 80356907 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093586 43093586 C A 69076 deletion NM_007294.3(BRCA1):c.1949_1950delTA (p.Ile650Lysfs) 397508921 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245598 41245599 TA - 69076 deletion NM_007294.3(BRCA1):c.1949_1950delTA (p.Ile650Lysfs) 397508921 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093581 43093582 TA - 69077 deletion NM_007294.3(BRCA1):c.1952delA (p.Lys651Argfs) 397508922 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245596 41245596 T - 69077 deletion NM_007294.3(BRCA1):c.1952delA (p.Lys651Argfs) 397508922 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093579 43093579 T - 69078 duplication NM_007294.3(BRCA1):c.1952dupA (p.Lys652Glufs) 80357885 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245596 41245596 T TT 69078 duplication NM_007294.3(BRCA1):c.1952dupA (p.Lys652Glufs) 80357885 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093579 43093579 T TT 69079 duplication NM_007294.3(BRCA1):c.1953dupG (p.Lys652Glufs) 80357753 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245595 41245595 C CC 69079 duplication NM_007294.3(BRCA1):c.1953dupG (p.Lys652Glufs) 80357753 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093578 43093578 C CC 69080 deletion NM_007294.3(BRCA1):c.1958_1961delAAAA (p.Lys653Serfs) 397508923 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245587 41245590 TTTT - 69080 deletion NM_007294.3(BRCA1):c.1958_1961delAAAA (p.Lys653Serfs) 397508923 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093570 43093573 TTTT - 69081 deletion NM_007294.3(BRCA1):c.195delG (p.Asn66Metfs) 80357869 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 41258490 41258490 C - 69081 deletion NM_007294.3(BRCA1):c.195delG (p.Asn66Metfs) 80357869 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 43106473 43106473 C - 69082 single nucleotide variant NM_007294.3(BRCA1):c.1960A>G (p.Lys654Glu) 80357355 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245588 41245588 T C 69082 single nucleotide variant NM_007294.3(BRCA1):c.1960A>G (p.Lys654Glu) 80357355 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093571 43093571 T C 69083 deletion NM_007294.3(BRCA1):c.1960_1961delAA (p.Lys654Valfs) 80357643 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245587 41245588 TT - 69083 deletion NM_007294.3(BRCA1):c.1960_1961delAA (p.Lys654Valfs) 80357643 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093570 43093571 TT - 69084 duplication NM_007294.3(BRCA1):c.1961dupA (p.Tyr655Valfs) 80357853 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41245587 41245587 T TT 69084 duplication NM_007294.3(BRCA1):c.1961dupA (p.Tyr655Valfs) 80357853 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43093570 43093570 T TT 69085 single nucleotide variant NM_007294.3(BRCA1):c.1963T>G (p.Tyr655Asp) 80357166 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245585 41245585 A C 69085 single nucleotide variant NM_007294.3(BRCA1):c.1963T>G (p.Tyr655Asp) 80357166 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093568 43093568 A C 69086 insertion NM_007294.3(BRCA1):c.1963_1964insG (p.Tyr655Terfs) 397508924 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245584 41245585 - C 69086 insertion NM_007294.3(BRCA1):c.1963_1964insG (p.Tyr655Terfs) 397508924 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093567 43093568 - C 69087 duplication NM_007294.3(BRCA1):c.1963dupT (p.Tyr655Leufs) 397508924 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245585 41245585 A AA 69087 duplication NM_007294.3(BRCA1):c.1963dupT (p.Tyr655Leufs) 397508924 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093568 43093568 A AA 69088 single nucleotide variant NM_007294.3(BRCA1):c.1964A>T (p.Tyr655Phe) 80357193 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245584 41245584 T A 69088 single nucleotide variant NM_007294.3(BRCA1):c.1964A>T (p.Tyr655Phe) 80357193 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093567 43093567 T A 69089 single nucleotide variant NM_007294.3(BRCA1):c.1967A>G (p.Asn656Ser) 397508925 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245581 41245581 T C 69089 single nucleotide variant NM_007294.3(BRCA1):c.1967A>G (p.Asn656Ser) 397508925 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093564 43093564 T C 69090 single nucleotide variant NM_007294.3(BRCA1):c.1969C>T (p.Gln657Ter) 397508926 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245579 41245579 G A 69090 single nucleotide variant NM_007294.3(BRCA1):c.1969C>T (p.Gln657Ter) 397508926 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093562 43093562 G A 69130 duplication NM_007294.3(BRCA1):c.211dupA (p.Arg71Lysfs) 397508938 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106457 43106457 T TT 69091 single nucleotide variant NM_007294.3(BRCA1):c.1971A>G (p.Gln657=) 28897679 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245577 41245577 T C 69091 single nucleotide variant NM_007294.3(BRCA1):c.1971A>G (p.Gln657=) 28897679 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093560 43093560 T C 69092 single nucleotide variant NM_007294.3(BRCA1):c.1974G>C (p.Met658Ile) 55678461 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245574 41245574 C G 69092 single nucleotide variant NM_007294.3(BRCA1):c.1974G>C (p.Met658Ile) 55678461 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093557 43093557 C G 69093 single nucleotide variant NM_007294.3(BRCA1):c.1984C>T (p.His662Tyr) 397508927 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245564 41245564 G A 69093 single nucleotide variant NM_007294.3(BRCA1):c.1984C>T (p.His662Tyr) 397508927 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093547 43093547 G A 69094 single nucleotide variant NM_007294.3(BRCA1):c.1985A>G (p.His662Arg) 80357494 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245563 41245563 T C 69094 single nucleotide variant NM_007294.3(BRCA1):c.1985A>G (p.His662Arg) 80357494 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093546 43093546 T C 69095 single nucleotide variant NM_007294.3(BRCA1):c.1995C>G (p.Asn665Lys) 80357238 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245553 41245553 G C 69095 single nucleotide variant NM_007294.3(BRCA1):c.1995C>G (p.Asn665Lys) 80357238 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093536 43093536 G C 69096 deletion NM_007294.3(BRCA1):c.1996delC (p.Leu666Tyrfs) 80357922 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245552 41245552 G - 69096 deletion NM_007294.3(BRCA1):c.1996delC (p.Leu666Tyrfs) 80357922 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093535 43093535 G - 69357 deletion NM_007294.3(BRCA1):c.2830delT (p.Cys944Valfs) 397509014 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092701 43092701 A - 69097 single nucleotide variant NM_007294.3(BRCA1):c.1999C>T (p.Gln667Ter) 80356889 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41245549 41245549 G A 69097 single nucleotide variant NM_007294.3(BRCA1):c.1999C>T (p.Gln667Ter) 80356889 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43093532 43093532 G A 69098 single nucleotide variant NM_007294.3(BRCA1):c.199G>T (p.Asp67Tyr) 80357102 MedGen:CN221562;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41258486 41258486 C A 69098 single nucleotide variant NM_007294.3(BRCA1):c.199G>T (p.Asp67Tyr) 80357102 MedGen:CN221562;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43106469 43106469 C A 69099 single nucleotide variant NM_007294.3(BRCA1):c.1A>G (p.Met1Val) 80357287 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41276113 41276113 T C 69099 single nucleotide variant NM_007294.3(BRCA1):c.1A>G (p.Met1Val) 80357287 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43124096 43124096 T C 69100 single nucleotide variant NM_007294.3(BRCA1):c.2008G>A (p.Glu670Lys) 80357029 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245540 41245540 C T 69100 single nucleotide variant NM_007294.3(BRCA1):c.2008G>A (p.Glu670Lys) 80357029 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093523 43093523 C T 69101 duplication NM_007294.3(BRCA1):c.2012_2013dupGT (p.Lys672Valfs) 397508928 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245535 41245536 AC ACAC 69101 duplication NM_007294.3(BRCA1):c.2012_2013dupGT (p.Lys672Valfs) 397508928 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093518 43093519 AC ACAC 69102 single nucleotide variant NM_007294.3(BRCA1):c.2014A>T (p.Lys672Ter) 397508929 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245534 41245534 T A 69102 single nucleotide variant NM_007294.3(BRCA1):c.2014A>T (p.Lys672Ter) 397508929 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093517 43093517 T A 69103 single nucleotide variant NM_007294.3(BRCA1):c.2017G>T (p.Glu673Ter) 80357391 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41245531 41245531 C A 69103 single nucleotide variant NM_007294.3(BRCA1):c.2017G>T (p.Glu673Ter) 80357391 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43093514 43093514 C A 69104 deletion NM_007294.3(BRCA1):c.2017delG (p.Glu673Asnfs) 80357638 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245531 41245531 C - 69104 deletion NM_007294.3(BRCA1):c.2017delG (p.Glu673Asnfs) 80357638 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093514 43093514 C - 69105 deletion NM_007294.3(BRCA1):c.2019delA (p.Glu673Aspfs) 80357626 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245529 41245529 T - 69105 deletion NM_007294.3(BRCA1):c.2019delA (p.Glu673Aspfs) 80357626 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093512 43093512 T - 69106 single nucleotide variant NM_007294.3(BRCA1):c.201T>G (p.Asp67Glu) 80357033 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258484 41258484 A C 69106 single nucleotide variant NM_007294.3(BRCA1):c.201T>G (p.Asp67Glu) 80357033 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106467 43106467 A C 69107 deletion NM_007294.3(BRCA1):c.2021delC (p.Pro674Leufs) 397508930 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245527 41245527 G - 69107 deletion NM_007294.3(BRCA1):c.2021delC (p.Pro674Leufs) 397508930 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093510 43093510 G - 69108 deletion NM_007294.3(BRCA1):c.2028_2029delTG (p.Gly677Serfs) 397508931 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245519 41245520 CA - 69108 deletion NM_007294.3(BRCA1):c.2028_2029delTG (p.Gly677Serfs) 397508931 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093502 43093503 CA - 69109 single nucleotide variant NM_007294.3(BRCA1):c.2035A>T (p.Lys679Ter) 80357082 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41245513 41245513 T A 69109 single nucleotide variant NM_007294.3(BRCA1):c.2035A>T (p.Lys679Ter) 80357082 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43093496 43093496 T A 69110 indel NM_007294.3(BRCA1):c.2037delGinsCC (p.Lys679Asnfs) 397508932 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245511 41245511 C GG 69110 indel NM_007294.3(BRCA1):c.2037delGinsCC (p.Lys679Asnfs) 397508932 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093494 43093494 C GG 69111 single nucleotide variant NM_007294.3(BRCA1):c.203T>A (p.Ile68Lys) 80357116 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258482 41258482 A T 69111 single nucleotide variant NM_007294.3(BRCA1):c.203T>A (p.Ile68Lys) 80357116 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106465 43106465 A T 69112 single nucleotide variant NM_007294.3(BRCA1):c.203T>G (p.Ile68Arg) 80357116 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258482 41258482 A C 69112 single nucleotide variant NM_007294.3(BRCA1):c.203T>G (p.Ile68Arg) 80357116 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106465 43106465 A C 69113 deletion NM_007294.3(BRCA1):c.2048delA (p.Lys683Serfs) 397508933 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245500 41245500 T - 69113 deletion NM_007294.3(BRCA1):c.2048delA (p.Lys683Serfs) 397508933 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093483 43093483 T - 69114 single nucleotide variant NM_007294.3(BRCA1):c.2050C>T (p.Pro684Ser) 397508934 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245498 41245498 G A 69114 single nucleotide variant NM_007294.3(BRCA1):c.2050C>T (p.Pro684Ser) 397508934 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093481 43093481 G A 69115 single nucleotide variant NM_007294.3(BRCA1):c.2059C>T (p.Gln687Ter) 273898674 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245489 41245489 G A 69115 single nucleotide variant NM_007294.3(BRCA1):c.2059C>T (p.Gln687Ter) 273898674 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093472 43093472 G A 69116 deletion NM_007294.3(BRCA1):c.2063_2066delCAAG (p.Thr688Ilefs) 397508935 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245482 41245485 CTTG - 69116 deletion NM_007294.3(BRCA1):c.2063_2066delCAAG (p.Thr688Ilefs) 397508935 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093465 43093468 CTTG - 69117 single nucleotide variant NM_007294.3(BRCA1):c.206C>A (p.Thr69Asn) 273898675 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258479 41258479 G T 69117 single nucleotide variant NM_007294.3(BRCA1):c.206C>A (p.Thr69Asn) 273898675 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106462 43106462 G T 69118 deletion NM_007294.3(BRCA1):c.2074delC (p.His692Metfs) 80357554 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245474 41245474 G - 69118 deletion NM_007294.3(BRCA1):c.2074delC (p.His692Metfs) 80357554 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093457 43093457 G - 69119 deletion NM_007294.3(BRCA1):c.2075_2076delAT (p.His692Argfs) 397508936 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245472 41245473 AT - 69119 deletion NM_007294.3(BRCA1):c.2075_2076delAT (p.His692Argfs) 397508936 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093455 43093456 AT - 69120 single nucleotide variant NM_007294.3(BRCA1):c.2079C>T (p.Asp693=) 80356835 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245469 41245469 G A 69120 single nucleotide variant NM_007294.3(BRCA1):c.2079C>T (p.Asp693=) 80356835 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093452 43093452 G A 69121 deletion NM_007294.3(BRCA1):c.2079_2080delCA (p.Asp693Glufs) 80357773 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245468 41245469 TG - 69121 deletion NM_007294.3(BRCA1):c.2079_2080delCA (p.Asp693Glufs) 80357773 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093451 43093452 TG - 69122 single nucleotide variant NM_007294.3(BRCA1):c.2083G>A (p.Asp695Asn) 28897681 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245465 41245465 C T 69122 single nucleotide variant NM_007294.3(BRCA1):c.2083G>A (p.Asp695Asn) 28897681 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093448 43093448 C T 69123 single nucleotide variant NM_007294.3(BRCA1):c.2083G>T (p.Asp695Tyr) 28897681 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245465 41245465 C A 69123 single nucleotide variant NM_007294.3(BRCA1):c.2083G>T (p.Asp695Tyr) 28897681 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093448 43093448 C A 69124 single nucleotide variant NM_007294.3(BRCA1):c.2086A>G (p.Thr696Ala) 80357441 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245462 41245462 T C 69124 single nucleotide variant NM_007294.3(BRCA1):c.2086A>G (p.Thr696Ala) 80357441 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093445 43093445 T C 69125 deletion NM_007294.3(BRCA1):c.2086delA (p.Thr696Leufs) 397508937 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245462 41245462 T - 69125 deletion NM_007294.3(BRCA1):c.2086delA (p.Thr696Leufs) 397508937 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093445 43093445 T - 69126 single nucleotide variant NM_007294.3(BRCA1):c.2103G>A (p.Lys701=) 273898677 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245445 41245445 C T 69126 single nucleotide variant NM_007294.3(BRCA1):c.2103G>A (p.Lys701=) 273898677 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093428 43093428 C T 69127 single nucleotide variant NM_007294.3(BRCA1):c.2105T>G (p.Leu702Ter) 80357298 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245443 41245443 A C 69127 single nucleotide variant NM_007294.3(BRCA1):c.2105T>G (p.Leu702Ter) 80357298 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093426 43093426 A C 69128 single nucleotide variant NM_007294.3(BRCA1):c.2109A>G (p.Thr703=) 4986844 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245439 41245439 T C 69128 single nucleotide variant NM_007294.3(BRCA1):c.2109A>G (p.Thr703=) 4986844 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093422 43093422 T C 69129 deletion NM_007294.3(BRCA1):c.2110_2111delAA (p.Asn704Cysfs) 80357814 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245437 41245438 TT - 69129 deletion NM_007294.3(BRCA1):c.2110_2111delAA (p.Asn704Cysfs) 80357814 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093420 43093421 TT - 69131 single nucleotide variant NM_007294.3(BRCA1):c.212+1G>C 80358042 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258472 41258472 C G 69131 single nucleotide variant NM_007294.3(BRCA1):c.212+1G>C 80358042 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106455 43106455 C G 69132 single nucleotide variant NM_007294.3(BRCA1):c.212+1G>T 80358042 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41258472 41258472 C A 69132 single nucleotide variant NM_007294.3(BRCA1):c.212+1G>T 80358042 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43106455 43106455 C A 69133 single nucleotide variant NM_007294.3(BRCA1):c.212+2T>C 80358026 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258471 41258471 A G 69133 single nucleotide variant NM_007294.3(BRCA1):c.212+2T>C 80358026 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106454 43106454 A G 69134 single nucleotide variant NM_007294.3(BRCA1):c.212+3A>G 80358083 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258470 41258470 T C 69134 single nucleotide variant NM_007294.3(BRCA1):c.212+3A>G 80358083 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106453 43106453 T C 69135 single nucleotide variant NM_007294.3(BRCA1):c.2120G>A (p.Gly707Asp) 80357192 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245428 41245428 C T 69135 single nucleotide variant NM_007294.3(BRCA1):c.2120G>A (p.Gly707Asp) 80357192 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093411 43093411 C T 69136 insertion NM_007294.3(BRCA1):c.2125_2126insA (p.Phe709Tyrfs) 80357871 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245422 41245423 - T 69136 insertion NM_007294.3(BRCA1):c.2125_2126insA (p.Phe709Tyrfs) 80357871 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093405 43093406 - T 69137 deletion NM_007294.3(BRCA1):c.2126_2127delTT (p.Phe709Tyrfs) 397508939 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245421 41245422 AA - 69137 deletion NM_007294.3(BRCA1):c.2126_2127delTT (p.Phe709Tyrfs) 397508939 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093404 43093405 AA - 69138 single nucleotide variant NM_007294.3(BRCA1):c.212G>A (p.Arg71Lys) 80356913 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41258473 41258473 C T 69138 single nucleotide variant NM_007294.3(BRCA1):c.212G>A (p.Arg71Lys) 80356913 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43106456 43106456 C T 69139 single nucleotide variant NM_007294.3(BRCA1):c.213-1G>A 80358146 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256974 41256974 C T 69139 single nucleotide variant NM_007294.3(BRCA1):c.213-1G>A 80358146 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104957 43104957 C T 69140 single nucleotide variant NM_007294.3(BRCA1):c.213-2A>C 397508940 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256975 41256975 T G 69140 single nucleotide variant NM_007294.3(BRCA1):c.213-2A>C 397508940 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104958 43104958 T G 69141 single nucleotide variant NM_007294.3(BRCA1):c.2130T>G (p.Thr710=) 273898678 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245418 41245418 A C 69141 single nucleotide variant NM_007294.3(BRCA1):c.2130T>G (p.Thr710=) 273898678 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093401 43093401 A C 69142 deletion NM_007294.3(BRCA1):c.2142delT (p.Asn714Lysfs) 273898679 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245406 41245406 A - 69142 deletion NM_007294.3(BRCA1):c.2142delT (p.Asn714Lysfs) 273898679 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093389 43093389 A - 69143 single nucleotide variant NM_007294.3(BRCA1):c.2155A>T (p.Lys719Ter) 80357147 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245393 41245393 T A 69143 single nucleotide variant NM_007294.3(BRCA1):c.2155A>T (p.Lys719Ter) 80357147 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093376 43093376 T A 69144 deletion NM_007294.3(BRCA1):c.2155_2168delAAAGAATTTGTCAA (p.Lys719Serfs) 397508941 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245380 41245393 TTGACAAATTCTTT - 69144 deletion NM_007294.3(BRCA1):c.2155_2168delAAAGAATTTGTCAA (p.Lys719Serfs) 397508941 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093363 43093376 TTGACAAATTCTTT - 69145 duplication NM_007294.3(BRCA1):c.2157dupA (p.Glu720Argfs) 80357715 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245391 41245391 T TT 69145 duplication NM_007294.3(BRCA1):c.2157dupA (p.Glu720Argfs) 80357715 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093374 43093374 T TT 69146 single nucleotide variant NM_007294.3(BRCA1):c.2158G>A (p.Glu720Lys) 80356875 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245390 41245390 C T 69146 single nucleotide variant NM_007294.3(BRCA1):c.2158G>A (p.Glu720Lys) 80356875 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093373 43093373 C T 69147 deletion NM_007294.3(BRCA1):c.2166delC (p.Asn723Ilefs) 397508943 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245382 41245382 G - 69147 deletion NM_007294.3(BRCA1):c.2166delC (p.Asn723Ilefs) 397508943 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093365 43093365 G - 69148 single nucleotide variant NM_007294.3(BRCA1):c.216C>A (p.Ser72Arg) 80356967 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256970 41256970 G T 69148 single nucleotide variant NM_007294.3(BRCA1):c.216C>A (p.Ser72Arg) 80356967 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104953 43104953 G T 69149 deletion NM_007294.3(BRCA1):c.2174delG (p.Ser725Thrfs) 397508944 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245374 41245374 C - 69149 deletion NM_007294.3(BRCA1):c.2174delG (p.Ser725Thrfs) 397508944 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093357 43093357 C - 69150 single nucleotide variant NM_007294.3(BRCA1):c.2175C>T (p.Ser725=) 273898680 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245373 41245373 G A 69150 single nucleotide variant NM_007294.3(BRCA1):c.2175C>T (p.Ser725=) 273898680 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093356 43093356 G A 69198 insertion NM_007294.3(BRCA1):c.2310_2311insC (p.Val772Glyfs) 397508955 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093220 43093221 - G 69151 deletion NM_007294.3(BRCA1):c.2176_2177delCT (p.Leu726Serfs) 397508945 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245371 41245372 AG - 69151 deletion NM_007294.3(BRCA1):c.2176_2177delCT (p.Leu726Serfs) 397508945 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093354 43093355 AG - 69152 deletion NM_007294.3(BRCA1):c.2176delC (p.Leu726Phefs) 80357668 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245372 41245372 G - 69152 deletion NM_007294.3(BRCA1):c.2176delC (p.Leu726Phefs) 80357668 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093355 43093355 G - 69153 single nucleotide variant NM_007294.3(BRCA1):c.2180C>T (p.Pro727Leu) 80356912 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245368 41245368 G A 69153 single nucleotide variant NM_007294.3(BRCA1):c.2180C>T (p.Pro727Leu) 80356912 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093351 43093351 G A 69154 single nucleotide variant NM_007294.3(BRCA1):c.2183G>A (p.Arg728Lys) 80357335 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245365 41245365 C T 69154 single nucleotide variant NM_007294.3(BRCA1):c.2183G>A (p.Arg728Lys) 80357335 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093348 43093348 C T 69155 single nucleotide variant NM_007294.3(BRCA1):c.2188G>T (p.Glu730Ter) 80357058 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245360 41245360 C A 69155 single nucleotide variant NM_007294.3(BRCA1):c.2188G>T (p.Glu730Ter) 80357058 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093343 43093343 C A 69156 deletion NM_007294.3(BRCA1):c.2188_2201delGAAAAAGAAGAGAA (p.Glu730Thrfs) 273898681 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245347 41245360 TTCTCTTCTTTTTC - 69156 deletion NM_007294.3(BRCA1):c.2188_2201delGAAAAAGAAGAGAA (p.Glu730Thrfs) 273898681 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093330 43093343 TTCTCTTCTTTTTC - 69157 deletion NM_007294.3(BRCA1):c.2192_2196delAAGAA (p.Lys731Argfs) 397508946 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245352 41245356 TTCTT - 69157 deletion NM_007294.3(BRCA1):c.2192_2196delAAGAA (p.Lys731Argfs) 397508946 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093335 43093339 TTCTT - 69158 deletion NM_007294.3(BRCA1):c.2193_2196delAGAA (p.Glu732Argfs) 397508947 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245352 41245355 TTCT - 69158 deletion NM_007294.3(BRCA1):c.2193_2196delAGAA (p.Glu732Argfs) 397508947 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093335 43093338 TTCT - 69159 single nucleotide variant NM_007294.3(BRCA1):c.2194G>T (p.Glu732Ter) 80357426 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245354 41245354 C A 69159 single nucleotide variant NM_007294.3(BRCA1):c.2194G>T (p.Glu732Ter) 80357426 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093337 43093337 C A 69160 deletion NM_007294.3(BRCA1):c.2196delA (p.Glu733Argfs) 397508948 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245352 41245352 T - 69160 deletion NM_007294.3(BRCA1):c.2196delA (p.Glu733Argfs) 397508948 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093335 43093335 T - 69161 single nucleotide variant NM_007294.3(BRCA1):c.2197G>T (p.Glu733Ter) 397508949 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245351 41245351 C A 69161 single nucleotide variant NM_007294.3(BRCA1):c.2197G>T (p.Glu733Ter) 397508949 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093334 43093334 C A 69162 deletion NM_007294.3(BRCA1):c.2197_2201delGAGAA (p.Glu733Thrfs) 80357507 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41245347 41245351 TTCTC - 69162 deletion NM_007294.3(BRCA1):c.2197_2201delGAGAA (p.Glu733Thrfs) 80357507 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43093330 43093334 TTCTC - 69163 deletion NM_007294.3(BRCA1):c.2202delA (p.Lys734Asnfs) 80357982 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245346 41245346 T - 69163 deletion NM_007294.3(BRCA1):c.2202delA (p.Lys734Asnfs) 80357982 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093329 43093329 T - 69164 deletion NM_007294.3(BRCA1):c.2203delC (p.Leu735Terfs) 80357936 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245345 41245345 G - 69164 deletion NM_007294.3(BRCA1):c.2203delC (p.Leu735Terfs) 80357936 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093328 43093328 G - 69165 deletion NM_007294.3(BRCA1):c.2206delG (p.Glu736Lysfs) 80357860 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245342 41245342 C - 69165 deletion NM_007294.3(BRCA1):c.2206delG (p.Glu736Lysfs) 80357860 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093325 43093325 C - 69166 single nucleotide variant NM_007294.3(BRCA1):c.220C>T (p.Gln74Ter) 80357234 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41256966 41256966 G A 69166 single nucleotide variant NM_007294.3(BRCA1):c.220C>T (p.Gln74Ter) 80357234 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43104949 43104949 G A 69167 deletion NM_007294.3(BRCA1):c.2210delC (p.Thr737Lysfs) 80357793 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245338 41245338 G - 69167 deletion NM_007294.3(BRCA1):c.2210delC (p.Thr737Lysfs) 80357793 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093321 43093321 G - 69168 deletion NM_007294.3(BRCA1):c.2211_2212delAG (p.Val738Terfs) 397508950 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245336 41245337 CT - 69168 deletion NM_007294.3(BRCA1):c.2211_2212delAG (p.Val738Terfs) 397508950 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093319 43093320 CT - 69169 deletion NM_007294.3(BRCA1):c.2212_2215delGTTA (p.Val738Lysfs) 397508951 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245333 41245336 TAAC - 69169 deletion NM_007294.3(BRCA1):c.2212_2215delGTTA (p.Val738Lysfs) 397508951 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093316 43093319 TAAC - 69170 single nucleotide variant NM_007294.3(BRCA1):c.2215A>T (p.Lys739Ter) 56329598 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245333 41245333 T A 69170 single nucleotide variant NM_007294.3(BRCA1):c.2215A>T (p.Lys739Ter) 56329598 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093316 43093316 T A 69171 deletion NM_007294.3(BRCA1):c.2216_2217delAA (p.Lys739Serfs) 397508952 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41245331 41245332 TT - 69171 deletion NM_007294.3(BRCA1):c.2216_2217delAA (p.Lys739Serfs) 397508952 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43093314 43093315 TT - 69172 single nucleotide variant NM_007294.3(BRCA1):c.2218G>C (p.Val740Leu) 80357415 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245330 41245330 C G 69172 single nucleotide variant NM_007294.3(BRCA1):c.2218G>C (p.Val740Leu) 80357415 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093313 43093313 C G 69173 single nucleotide variant NM_007294.3(BRCA1):c.2222C>G (p.Ser741Cys) 80357051 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245326 41245326 G C 69173 single nucleotide variant NM_007294.3(BRCA1):c.2222C>G (p.Ser741Cys) 80357051 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093309 43093309 G C 69174 single nucleotide variant NM_007294.3(BRCA1):c.2222C>T (p.Ser741Phe) 80357051 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245326 41245326 G A 69174 single nucleotide variant NM_007294.3(BRCA1):c.2222C>T (p.Ser741Phe) 80357051 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093309 43093309 G A 69175 single nucleotide variant NM_007294.3(BRCA1):c.2232T>C (p.Ala744=) 4986846 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245316 41245316 A G 69175 single nucleotide variant NM_007294.3(BRCA1):c.2232T>C (p.Ala744=) 4986846 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093299 43093299 A G 69176 duplication NM_007294.3(BRCA1):c.2236dupG (p.Asp746Glyfs) 80357909 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245312 41245312 C CC 69176 duplication NM_007294.3(BRCA1):c.2236dupG (p.Asp746Glyfs) 80357909 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093295 43093295 C CC 69177 deletion NM_007294.3(BRCA1):c.2241delC (p.Asp749Ilefs) 80357650 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245307 41245307 G - 69336 duplication NM_007294.3(BRCA1):c.2745dupT (p.Asn916Terfs) 397509008 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244803 41244803 A AA 69177 deletion NM_007294.3(BRCA1):c.2241delC (p.Asp749Ilefs) 80357650 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093290 43093290 G - 69178 duplication NM_007294.3(BRCA1):c.2241dupC (p.Lys748Glnfs) 397508953 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245307 41245307 G GG 69178 duplication NM_007294.3(BRCA1):c.2241dupC (p.Lys748Glnfs) 397508953 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093290 43093290 G GG 69179 single nucleotide variant NM_007294.3(BRCA1):c.2245G>T (p.Asp749Tyr) 80357114 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245303 41245303 C A 69179 single nucleotide variant NM_007294.3(BRCA1):c.2245G>T (p.Asp749Tyr) 80357114 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093286 43093286 C A 69180 deletion NM_007294.3(BRCA1):c.2248_2252delCTCAT (p.Leu750Valfs) 397508954 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245296 41245300 ATGAG - 69180 deletion NM_007294.3(BRCA1):c.2248_2252delCTCAT (p.Leu750Valfs) 397508954 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093279 43093283 ATGAG - 69181 deletion NM_007294.3(BRCA1):c.224_227delAAAG (p.Glu75Valfs) 80357697 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256959 41256962 CTTT - 69181 deletion NM_007294.3(BRCA1):c.224_227delAAAG (p.Glu75Valfs) 80357697 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104942 43104945 CTTT - 69182 deletion NM_007294.3(BRCA1):c.2253_2254delGT (p.Met751Ilefs) 80357602 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245294 41245295 AC - 69182 deletion NM_007294.3(BRCA1):c.2253_2254delGT (p.Met751Ilefs) 80357602 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093277 43093278 AC - 69183 single nucleotide variant NM_007294.3(BRCA1):c.2263G>T (p.Glu755Ter) 41286296 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245285 41245285 C A 69183 single nucleotide variant NM_007294.3(BRCA1):c.2263G>T (p.Glu755Ter) 41286296 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093268 43093268 C A 69184 deletion NM_007294.3(BRCA1):c.2263delG (p.Glu755Lysfs) 80357960 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245285 41245285 C - 69184 deletion NM_007294.3(BRCA1):c.2263delG (p.Glu755Lysfs) 80357960 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093268 43093268 C - 69185 single nucleotide variant NM_007294.3(BRCA1):c.2268G>C (p.Arg756Ser) 80356884 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245280 41245280 C G 69185 single nucleotide variant NM_007294.3(BRCA1):c.2268G>C (p.Arg756Ser) 80356884 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093263 43093263 C G 69186 single nucleotide variant NM_007294.3(BRCA1):c.2275C>T (p.Gln759Ter) 80356999 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245273 41245273 G A 69186 single nucleotide variant NM_007294.3(BRCA1):c.2275C>T (p.Gln759Ter) 80356999 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093256 43093256 G A 69187 single nucleotide variant NM_007294.3(BRCA1):c.2282A>C (p.Glu761Ala) 80356869 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245266 41245266 T G 69187 single nucleotide variant NM_007294.3(BRCA1):c.2282A>C (p.Glu761Ala) 80356869 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093249 43093249 T G 69188 deletion NM_007294.3(BRCA1):c.2283_2284delAA (p.Arg762Ilefs) 80357657 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245264 41245265 TT - 69188 deletion NM_007294.3(BRCA1):c.2283_2284delAA (p.Arg762Ilefs) 80357657 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093247 43093248 TT - 69189 single nucleotide variant NM_007294.3(BRCA1):c.2286A>T (p.Arg762Ser) 273898682 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245262 41245262 T A 69189 single nucleotide variant NM_007294.3(BRCA1):c.2286A>T (p.Arg762Ser) 273898682 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093245 43093245 T A 69190 duplication NM_007294.3(BRCA1):c.2292_2310dup19 (p.Leu771Argfs) 397508955 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245238 41245256 na na 69190 duplication NM_007294.3(BRCA1):c.2292_2310dup19 (p.Leu771Argfs) 397508955 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093221 43093239 na na 69191 single nucleotide variant NM_007294.3(BRCA1):c.2293G>T (p.Glu765Ter) 80357449 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245255 41245255 C A 69191 single nucleotide variant NM_007294.3(BRCA1):c.2293G>T (p.Glu765Ter) 80357449 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093238 43093238 C A 69192 single nucleotide variant NM_007294.3(BRCA1):c.2294A>G (p.Glu765Gly) 80357085 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245254 41245254 T C 69192 single nucleotide variant NM_007294.3(BRCA1):c.2294A>G (p.Glu765Gly) 80357085 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093237 43093237 T C 69193 deletion NM_007294.3(BRCA1):c.2308delT (p.Ser770Hisfs) 397508956 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245240 41245240 A - 69193 deletion NM_007294.3(BRCA1):c.2308delT (p.Ser770Hisfs) 397508956 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093223 43093223 A - 69194 single nucleotide variant NM_007294.3(BRCA1):c.2309C>A (p.Ser770Ter) 80357063 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245239 41245239 G T 69194 single nucleotide variant NM_007294.3(BRCA1):c.2309C>A (p.Ser770Ter) 80357063 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093222 43093222 G T 69195 single nucleotide variant NM_007294.3(BRCA1):c.230C>G (p.Thr77Arg) 80357209 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256956 41256956 G C 69195 single nucleotide variant NM_007294.3(BRCA1):c.230C>G (p.Thr77Arg) 80357209 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104939 43104939 G C 69196 single nucleotide variant NM_007294.3(BRCA1):c.230C>T (p.Thr77Met) 80357209 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41256956 41256956 G A 69196 single nucleotide variant NM_007294.3(BRCA1):c.230C>T (p.Thr77Met) 80357209 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43104939 43104939 G A 69197 indel NM_007294.3(BRCA1):c.230delCinsGTCAACTTGTT (p.Thr77Serfs) 397508957 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256956 41256956 G AACAAGTTGAC 69197 indel NM_007294.3(BRCA1):c.230delCinsGTCAACTTGTT (p.Thr77Serfs) 397508957 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104939 43104939 G AACAAGTTGAC 69198 insertion NM_007294.3(BRCA1):c.2310_2311insC (p.Val772Glyfs) 397508955 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245237 41245238 - G 69199 deletion NM_007294.3(BRCA1):c.2314delG (p.Val772Tyrfs) 80357957 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245234 41245234 C - 69199 deletion NM_007294.3(BRCA1):c.2314delG (p.Val772Tyrfs) 80357957 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093217 43093217 C - 69200 single nucleotide variant NM_007294.3(BRCA1):c.231G>T (p.Thr77=) 80356847 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256955 41256955 C A 69200 single nucleotide variant NM_007294.3(BRCA1):c.231G>T (p.Thr77=) 80356847 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104938 43104938 C A 69201 single nucleotide variant NM_007294.3(BRCA1):c.2322T>A (p.Gly774=) 397508958 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245226 41245226 A T 69201 single nucleotide variant NM_007294.3(BRCA1):c.2322T>A (p.Gly774=) 397508958 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093209 43093209 A T 69202 insertion NM_007294.3(BRCA1):c.2325_2326insA (p.Asp776Argfs) 397508959 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245222 41245223 - T 69202 insertion NM_007294.3(BRCA1):c.2325_2326insA (p.Asp776Argfs) 397508959 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093205 43093206 - T 69203 deletion NM_007294.3(BRCA1):c.2329delT (p.Tyr777Metfs) 80357725 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245219 41245219 A - 69203 deletion NM_007294.3(BRCA1):c.2329delT (p.Tyr777Metfs) 80357725 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093202 43093202 A - 69204 deletion NM_007294.3(BRCA1):c.232delA (p.Arg78Aspfs) 80357884 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256954 41256954 T - 69204 deletion NM_007294.3(BRCA1):c.232delA (p.Arg78Aspfs) 80357884 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104937 43104937 T - 69205 single nucleotide variant NM_007294.3(BRCA1):c.2331T>A (p.Tyr777Ter) 80357444 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245217 41245217 A T 69205 single nucleotide variant NM_007294.3(BRCA1):c.2331T>A (p.Tyr777Ter) 80357444 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093200 43093200 A T 69206 single nucleotide variant NM_007294.3(BRCA1):c.2338C>A (p.Gln780Lys) 80356945 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245210 41245210 G T 69206 single nucleotide variant NM_007294.3(BRCA1):c.2338C>A (p.Gln780Lys) 80356945 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093193 43093193 G T 69207 single nucleotide variant NM_007294.3(BRCA1):c.2338C>T (p.Gln780Ter) 80356945 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41245210 41245210 G A 69207 single nucleotide variant NM_007294.3(BRCA1):c.2338C>T (p.Gln780Ter) 80356945 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43093193 43093193 G A 69208 single nucleotide variant NM_007294.3(BRCA1):c.2347A>G (p.Ile783Val) 80356948 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245201 41245201 T C 69208 single nucleotide variant NM_007294.3(BRCA1):c.2347A>G (p.Ile783Val) 80356948 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093184 43093184 T C 69209 single nucleotide variant NM_007294.3(BRCA1):c.2350T>G (p.Ser784Ala) 80357399 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245198 41245198 A C 69209 single nucleotide variant NM_007294.3(BRCA1):c.2350T>G (p.Ser784Ala) 80357399 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093181 43093181 A C 69210 deletion NM_007294.3(BRCA1):c.2350_2351delTC (p.Ser784Valfs) 397508960 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245197 41245198 GA - 69210 deletion NM_007294.3(BRCA1):c.2350_2351delTC (p.Ser784Valfs) 397508960 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093180 43093181 GA - 69211 deletion NM_007294.3(BRCA1):c.2351_2357delCGTTACT (p.Ser784Trpfs) 80357820 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245191 41245197 AGTAACG - 69211 deletion NM_007294.3(BRCA1):c.2351_2357delCGTTACT (p.Ser784Trpfs) 80357820 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093174 43093180 AGTAACG - 69212 single nucleotide variant NM_007294.3(BRCA1):c.2354T>A (p.Leu785Ter) 397508961 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245194 41245194 A T 69212 single nucleotide variant NM_007294.3(BRCA1):c.2354T>A (p.Leu785Ter) 397508961 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093177 43093177 A T 69213 deletion NM_007294.3(BRCA1):c.2356delC (p.Leu786Trpfs) 397508962 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245192 41245192 G - 69213 deletion NM_007294.3(BRCA1):c.2356delC (p.Leu786Trpfs) 397508962 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093175 43093175 G - 69214 deletion NM_007294.3(BRCA1):c.2357delT (p.Leu786Argfs) 397508963 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245191 41245191 A - 69214 deletion NM_007294.3(BRCA1):c.2357delT (p.Leu786Argfs) 397508963 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093174 43093174 A - 69215 deletion NM_007294.3(BRCA1):c.2359delG (p.Glu787Lysfs) 397508964 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245189 41245189 C - 69215 deletion NM_007294.3(BRCA1):c.2359delG (p.Glu787Lysfs) 397508964 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093172 43093172 C - 69216 duplication NM_007294.3(BRCA1):c.2359dupG (p.Glu787Glyfs) 80357739 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245189 41245189 C CC 69216 duplication NM_007294.3(BRCA1):c.2359dupG (p.Glu787Glyfs) 80357739 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093172 43093172 C CC 69217 single nucleotide variant NM_007294.3(BRCA1):c.2362G>A (p.Val788Ile) 80357060 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245186 41245186 C T 69217 single nucleotide variant NM_007294.3(BRCA1):c.2362G>A (p.Val788Ile) 80357060 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093169 43093169 C T 69218 single nucleotide variant NM_007294.3(BRCA1):c.2387C>T (p.Thr796Ile) 80357364 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245161 41245161 G A 69218 single nucleotide variant NM_007294.3(BRCA1):c.2387C>T (p.Thr796Ile) 80357364 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093144 43093144 G A 69238 insertion NM_007294.3(BRCA1):c.2440_2441insA (p.Leu814Hisfs) 397508969 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093090 43093091 - T 69219 deletion NM_007294.3(BRCA1):c.2389_2390delGA (p.Glu797Thrfs) 80357695 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245158 41245159 TC - 69219 deletion NM_007294.3(BRCA1):c.2389_2390delGA (p.Glu797Thrfs) 80357695 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093141 43093142 TC - 69220 deletion NM_007294.3(BRCA1):c.2389delG (p.Glu797Asnfs) 397508965 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245159 41245159 C - 69220 deletion NM_007294.3(BRCA1):c.2389delG (p.Glu797Asnfs) 397508965 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093142 43093142 C - 69221 deletion NM_007294.3(BRCA1):c.2390_2391delAA (p.Glu797Alafs) 80357546 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245157 41245158 TT - 69221 deletion NM_007294.3(BRCA1):c.2390_2391delAA (p.Glu797Alafs) 80357546 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093140 43093141 TT - 69222 deletion NM_007294.3(BRCA1):c.2393delC (p.Pro798Glnfs) 80357850 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245155 41245155 G - 69222 deletion NM_007294.3(BRCA1):c.2393delC (p.Pro798Glnfs) 80357850 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093138 43093138 G - 69223 single nucleotide variant NM_007294.3(BRCA1):c.2397T>A (p.Asn799Lys) 80357203 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245151 41245151 A T 69223 single nucleotide variant NM_007294.3(BRCA1):c.2397T>A (p.Asn799Lys) 80357203 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093134 43093134 A T 69224 single nucleotide variant NM_007294.3(BRCA1):c.2403T>A (p.Cys801Ter) 80357381 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245145 41245145 A T 69224 single nucleotide variant NM_007294.3(BRCA1):c.2403T>A (p.Cys801Ter) 80357381 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093128 43093128 A T 69225 deletion NM_007294.3(BRCA1):c.2405_2406delTG (p.Val802Glufs) 80357706 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245142 41245143 CA - 69225 deletion NM_007294.3(BRCA1):c.2405_2406delTG (p.Val802Glufs) 80357706 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093125 43093126 CA - 69226 deletion NM_007294.3(BRCA1):c.2406_2409delGAGT (p.Gln804Valfs) 80357674 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245139 41245142 ACTC - 69226 deletion NM_007294.3(BRCA1):c.2406_2409delGAGT (p.Gln804Valfs) 80357674 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093122 43093125 ACTC - 69227 single nucleotide variant NM_007294.3(BRCA1):c.2410C>T (p.Gln804Ter) 80356982 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245138 41245138 G A 69227 single nucleotide variant NM_007294.3(BRCA1):c.2410C>T (p.Gln804Ter) 80356982 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093121 43093121 G A 69228 single nucleotide variant NM_007294.3(BRCA1):c.2412G>C (p.Gln804His) 55746541 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245136 41245136 C G 69228 single nucleotide variant NM_007294.3(BRCA1):c.2412G>C (p.Gln804His) 55746541 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093119 43093119 C G 69229 single nucleotide variant NM_007294.3(BRCA1):c.2413T>C (p.Cys805Arg) 397508966 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245135 41245135 A G 69229 single nucleotide variant NM_007294.3(BRCA1):c.2413T>C (p.Cys805Arg) 397508966 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093118 43093118 A G 69230 single nucleotide variant NM_007294.3(BRCA1):c.2416G>A (p.Ala806Thr) 80357144 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245132 41245132 C T 69230 single nucleotide variant NM_007294.3(BRCA1):c.2416G>A (p.Ala806Thr) 80357144 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093115 43093115 C T 69231 single nucleotide variant NM_007294.3(BRCA1):c.2419G>T (p.Ala807Ser) 80357240 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245129 41245129 C A 69231 single nucleotide variant NM_007294.3(BRCA1):c.2419G>T (p.Ala807Ser) 80357240 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093112 43093112 C A 69232 single nucleotide variant NM_007294.3(BRCA1):c.241C>T (p.Gln81Ter) 80357350 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256945 41256945 G A 69232 single nucleotide variant NM_007294.3(BRCA1):c.241C>T (p.Gln81Ter) 80357350 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104928 43104928 G A 69233 single nucleotide variant NM_007294.3(BRCA1):c.2420C>A (p.Ala807Glu) 273899683 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245128 41245128 G T 69233 single nucleotide variant NM_007294.3(BRCA1):c.2420C>A (p.Ala807Glu) 273899683 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093111 43093111 G T 69234 single nucleotide variant NM_007294.3(BRCA1):c.2428A>T (p.Asn810Tyr) 28897682 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245120 41245120 T A 69234 single nucleotide variant NM_007294.3(BRCA1):c.2428A>T (p.Asn810Tyr) 28897682 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093103 43093103 T A 69235 deletion NM_007294.3(BRCA1):c.2429delA (p.Asn810Thrfs) 397508967 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245119 41245119 T - 69235 deletion NM_007294.3(BRCA1):c.2429delA (p.Asn810Thrfs) 397508967 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093102 43093102 T - 69236 single nucleotide variant NM_007294.3(BRCA1):c.2434A>T (p.Lys812Ter) 397508968 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245114 41245114 T A 69236 single nucleotide variant NM_007294.3(BRCA1):c.2434A>T (p.Lys812Ter) 397508968 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093097 43093097 T A 69237 single nucleotide variant NM_007294.3(BRCA1):c.2437G>T (p.Gly813Ter) 80357186 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245111 41245111 C A 69237 single nucleotide variant NM_007294.3(BRCA1):c.2437G>T (p.Gly813Ter) 80357186 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093094 43093094 C A 69238 insertion NM_007294.3(BRCA1):c.2440_2441insA (p.Leu814Hisfs) 397508969 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245107 41245108 - T 69239 deletion NM_007294.3(BRCA1):c.2443delA (p.Ile815Phefs) 80357598 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41245105 41245105 T - 69239 deletion NM_007294.3(BRCA1):c.2443delA (p.Ile815Phefs) 80357598 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43093088 43093088 T - 69240 deletion NM_007294.3(BRCA1):c.2450delG (p.Gly817Valfs) 80357679 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245098 41245098 C - 69240 deletion NM_007294.3(BRCA1):c.2450delG (p.Gly817Valfs) 80357679 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093081 43093081 C - 69241 deletion NM_007294.3(BRCA1):c.2468delG (p.Arg823Lysfs) 80357799 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245080 41245080 C - 69241 deletion NM_007294.3(BRCA1):c.2468delG (p.Arg823Lysfs) 80357799 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093063 43093063 C - 69242 single nucleotide variant NM_007294.3(BRCA1):c.2473G>T (p.Asp825Tyr) 80357328 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245075 41245075 C A 69242 single nucleotide variant NM_007294.3(BRCA1):c.2473G>T (p.Asp825Tyr) 80357328 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093058 43093058 C A 69243 single nucleotide variant NM_007294.3(BRCA1):c.2474A>T (p.Asp825Val) 80357249 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245074 41245074 T A 69243 single nucleotide variant NM_007294.3(BRCA1):c.2474A>T (p.Asp825Val) 80357249 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093057 43093057 T A 69244 deletion NM_007294.3(BRCA1):c.2476delA (p.Thr826Glnfs) 80357631 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245072 41245072 T - 69244 deletion NM_007294.3(BRCA1):c.2476delA (p.Thr826Glnfs) 80357631 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093055 43093055 T - 69245 deletion NM_007294.3(BRCA1):c.2477_2478delCA (p.Thr826Argfs) 80357800 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245070 41245071 TG - 69329 single nucleotide variant NM_007294.3(BRCA1):c.2728C>T (p.Gln910Ter) 397509004 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244820 41244820 G A 69245 deletion NM_007294.3(BRCA1):c.2477_2478delCA (p.Thr826Argfs) 80357800 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093053 43093054 TG - 69246 deletion NM_007294.3(BRCA1):c.2477delC (p.Thr826Lysfs) 80357740 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245071 41245071 G - 69246 deletion NM_007294.3(BRCA1):c.2477delC (p.Thr826Lysfs) 80357740 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093054 43093054 G - 69247 single nucleotide variant NM_007294.3(BRCA1):c.2481A>C (p.Glu827Asp) 397508970 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245067 41245067 T G 69247 single nucleotide variant NM_007294.3(BRCA1):c.2481A>C (p.Glu827Asp) 397508970 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093050 43093050 T G 69248 single nucleotide variant NM_007294.3(BRCA1):c.2482G>A (p.Gly828Ser) 80357185 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245066 41245066 C T 69248 single nucleotide variant NM_007294.3(BRCA1):c.2482G>A (p.Gly828Ser) 80357185 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43093049 43093049 C T 69249 deletion NM_007294.3(BRCA1):c.2483_2485delGCT (p.Gly828_Phe829delinsVal) 80358331 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245063 41245065 AGC - 69249 deletion NM_007294.3(BRCA1):c.2483_2485delGCT (p.Gly828_Phe829delinsVal) 80358331 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093046 43093048 AGC - 69250 deletion NM_007294.3(BRCA1):c.2486_2487delTT (p.Phe829Terfs) 397508971 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245061 41245062 AA - 69250 deletion NM_007294.3(BRCA1):c.2486_2487delTT (p.Phe829Terfs) 397508971 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093044 43093045 AA - 69251 deletion NM_007294.3(BRCA1):c.2487delT (p.Phe829Leufs) 80357658 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245061 41245061 A - 69251 deletion NM_007294.3(BRCA1):c.2487delT (p.Phe829Leufs) 80357658 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093044 43093044 A - 69252 duplication NM_007294.3(BRCA1):c.2487dupT (p.Lys830Terfs) 397508972 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245061 41245061 A AA 69252 duplication NM_007294.3(BRCA1):c.2487dupT (p.Lys830Terfs) 397508972 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093044 43093044 A AA 69253 duplication NM_007294.3(BRCA1):c.2488_2497dupAAGTATCCAT (p.Leu833Terfs) 397508973 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245051 41245060 ATGGATACTT ATGGATACTTATGGATACTT 69253 duplication NM_007294.3(BRCA1):c.2488_2497dupAAGTATCCAT (p.Leu833Terfs) 397508973 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093034 43093043 ATGGATACTT ATGGATACTTATGGATACTT 69254 deletion NM_007294.3(BRCA1):c.2507_2508delAA (p.Glu836Glyfs) 273899686 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245040 41245041 TT - 69254 deletion NM_007294.3(BRCA1):c.2507_2508delAA (p.Glu836Glyfs) 273899686 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093023 43093024 TT - 69255 deletion NM_007294.3(BRCA1):c.2513delA (p.Asn838Thrfs) 80357863 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245035 41245035 T - 69255 deletion NM_007294.3(BRCA1):c.2513delA (p.Asn838Thrfs) 80357863 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093018 43093018 T - 69256 deletion NM_007294.3(BRCA1):c.2517_2518delCA (p.His839Glnfs) 397508974 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245030 41245031 TG - 69256 deletion NM_007294.3(BRCA1):c.2517_2518delCA (p.His839Glnfs) 397508974 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093013 43093014 TG - 69257 deletion NM_007294.3(BRCA1):c.2518delA (p.Ser840Valfs) 397508975 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245030 41245030 T - 69257 deletion NM_007294.3(BRCA1):c.2518delA (p.Ser840Valfs) 397508975 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093013 43093013 T - 69258 single nucleotide variant NM_007294.3(BRCA1):c.2522G>A (p.Arg841Gln) 80357337 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245026 41245026 C T 69258 single nucleotide variant NM_007294.3(BRCA1):c.2522G>A (p.Arg841Gln) 80357337 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093009 43093009 C T 69259 single nucleotide variant NM_007294.3(BRCA1):c.2527A>G (p.Thr843Ala) 80357435 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245021 41245021 T C 69259 single nucleotide variant NM_007294.3(BRCA1):c.2527A>G (p.Thr843Ala) 80357435 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093004 43093004 T C 69260 single nucleotide variant NM_007294.3(BRCA1):c.2534T>C (p.Ile845Thr) 397508976 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245014 41245014 A G 69260 single nucleotide variant NM_007294.3(BRCA1):c.2534T>C (p.Ile845Thr) 397508976 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092997 43092997 A G 69261 single nucleotide variant NM_007294.3(BRCA1):c.2541G>A (p.Met847Ile) 80357195 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245007 41245007 C T 69261 single nucleotide variant NM_007294.3(BRCA1):c.2541G>A (p.Met847Ile) 80357195 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092990 43092990 C T 69262 single nucleotide variant NM_007294.3(BRCA1):c.2545G>T (p.Glu849Ter) 80356951 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41245003 41245003 C A 69262 single nucleotide variant NM_007294.3(BRCA1):c.2545G>T (p.Glu849Ter) 80356951 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092986 43092986 C A 69263 deletion NM_007294.3(BRCA1):c.2551delG (p.Glu851Asnfs) 397508977 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244997 41244997 C - 69263 deletion NM_007294.3(BRCA1):c.2551delG (p.Glu851Asnfs) 397508977 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092980 43092980 C - 69264 deletion NM_007294.3(BRCA1):c.2556delT (p.Asp853Metfs) 397508978 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244992 41244992 A - 69264 deletion NM_007294.3(BRCA1):c.2556delT (p.Asp853Metfs) 397508978 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092975 43092975 A - 69265 duplication NM_007294.3(BRCA1):c.2556dupT (p.Asp853Terfs) 397508979 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244992 41244992 A AA 69265 duplication NM_007294.3(BRCA1):c.2556dupT (p.Asp853Terfs) 397508979 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092975 43092975 A AA 69266 duplication NM_007294.3(BRCA1):c.2558dupA (p.Asp853Glufs) 80357835 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244990 41244990 T TT 69266 duplication NM_007294.3(BRCA1):c.2558dupA (p.Asp853Glufs) 80357835 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092973 43092973 T TT 69267 duplication NM_007294.3(BRCA1):c.2560_2561dupGC (p.Gln855Leufs) 80357968 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244987 41244988 GC GCGC 69267 duplication NM_007294.3(BRCA1):c.2560_2561dupGC (p.Gln855Leufs) 80357968 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092970 43092971 GC GCGC 69268 single nucleotide variant NM_007294.3(BRCA1):c.2561C>T (p.Ala854Val) 80357315 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244987 41244987 G A 69268 single nucleotide variant NM_007294.3(BRCA1):c.2561C>T (p.Ala854Val) 80357315 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092970 43092970 G A 69269 deletion NM_007294.3(BRCA1):c.2561_2565delCTCAG (p.Ala854Valfs) 397508981 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244983 41244987 CTGAG - 69269 deletion NM_007294.3(BRCA1):c.2561_2565delCTCAG (p.Ala854Valfs) 397508981 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092966 43092970 CTGAG - 69270 insertion NM_007294.3(BRCA1):c.2564_2565insTTGAT (p.Gln855Hisfs) 397508982 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244983 41244984 - ATCAA 69270 insertion NM_007294.3(BRCA1):c.2564_2565insTTGAT (p.Gln855Hisfs) 397508982 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092966 43092967 - ATCAA 69271 single nucleotide variant NM_007294.3(BRCA1):c.2566T>C (p.Tyr856His) 80356892 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244982 41244982 A G 69271 single nucleotide variant NM_007294.3(BRCA1):c.2566T>C (p.Tyr856His) 80356892 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092965 43092965 A G 69272 single nucleotide variant NM_007294.3(BRCA1):c.2568T>C (p.Tyr856=) 80356832 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244980 41244980 A G 69272 single nucleotide variant NM_007294.3(BRCA1):c.2568T>C (p.Tyr856=) 80356832 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092963 43092963 A G 69273 single nucleotide variant NM_007294.3(BRCA1):c.2568T>G (p.Tyr856Ter) 80356832 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244980 41244980 A C 69273 single nucleotide variant NM_007294.3(BRCA1):c.2568T>G (p.Tyr856Ter) 80356832 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092963 43092963 A C 69274 single nucleotide variant NM_007294.3(BRCA1):c.2572C>T (p.Gln858Ter) 397508983 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244976 41244976 G A 69274 single nucleotide variant NM_007294.3(BRCA1):c.2572C>T (p.Gln858Ter) 397508983 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092959 43092959 G A 69275 single nucleotide variant NM_007294.3(BRCA1):c.2582T>G (p.Phe861Cys) 80357098 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244966 41244966 A C 69275 single nucleotide variant NM_007294.3(BRCA1):c.2582T>G (p.Phe861Cys) 80357098 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092949 43092949 A C 69276 single nucleotide variant NM_007294.3(BRCA1):c.2590T>G (p.Ser864Ala) 80357285 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244958 41244958 A C 69276 single nucleotide variant NM_007294.3(BRCA1):c.2590T>G (p.Ser864Ala) 80357285 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092941 43092941 A C 69277 single nucleotide variant NM_007294.3(BRCA1):c.2591C>G (p.Ser864Ter) 80357003 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244957 41244957 G C 69277 single nucleotide variant NM_007294.3(BRCA1):c.2591C>G (p.Ser864Ter) 80357003 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092940 43092940 G C 69278 single nucleotide variant NM_007294.3(BRCA1):c.2591C>T (p.Ser864Leu) 80357003 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244957 41244957 G A 69278 single nucleotide variant NM_007294.3(BRCA1):c.2591C>T (p.Ser864Leu) 80357003 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092940 43092940 G A 69279 deletion NM_007294.3(BRCA1):c.2594delA (p.Lys865Serfs) 80357756 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41244954 41244954 T - 69279 deletion NM_007294.3(BRCA1):c.2594delA (p.Lys865Serfs) 80357756 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43092937 43092937 T - 69280 single nucleotide variant NM_007294.3(BRCA1):c.2597G>A (p.Arg866His) 80356911 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41244951 41244951 C T 69280 single nucleotide variant NM_007294.3(BRCA1):c.2597G>A (p.Arg866His) 80356911 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43092934 43092934 C T 69281 single nucleotide variant NM_007294.3(BRCA1):c.259T>G (p.Leu87Val) 80357091 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41256927 41256927 A C 69281 single nucleotide variant NM_007294.3(BRCA1):c.259T>G (p.Leu87Val) 80357091 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43104910 43104910 A C 69282 single nucleotide variant NM_007294.3(BRCA1):c.2600A>G (p.Gln867Arg) 397508985 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244948 41244948 T C 69282 single nucleotide variant NM_007294.3(BRCA1):c.2600A>G (p.Gln867Arg) 397508985 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092931 43092931 T C 69283 single nucleotide variant NM_007294.3(BRCA1):c.2603C>A (p.Ser868Ter) 80356925 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244945 41244945 G T 69283 single nucleotide variant NM_007294.3(BRCA1):c.2603C>A (p.Ser868Ter) 80356925 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092928 43092928 G T 69284 deletion NM_007294.3(BRCA1):c.2611_2612delCC (p.Pro871Valfs) 80357962 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244936 41244937 GG - 69284 deletion NM_007294.3(BRCA1):c.2611_2612delCC (p.Pro871Valfs) 80357962 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092919 43092920 GG - 69285 single nucleotide variant NM_007294.3(BRCA1):c.2612C>A (p.Pro871Gln) 799917 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244936 41244936 G T 69285 single nucleotide variant NM_007294.3(BRCA1):c.2612C>A (p.Pro871Gln) 799917 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092919 43092919 G T 69286 insertion NM_007294.3(BRCA1):c.2612_2613insT (p.Phe872Valfs) 80357948 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244935 41244936 - A 69286 insertion NM_007294.3(BRCA1):c.2612_2613insT (p.Phe872Valfs) 80357948 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092918 43092919 - A 69287 indel NM_007294.3(BRCA1):c.2612delCinsTT (p.Pro871Leufs) 397508986 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244936 41244936 G AA 69287 indel NM_007294.3(BRCA1):c.2612delCinsTT (p.Pro871Leufs) 397508986 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092919 43092919 G AA 69288 duplication NM_007294.3(BRCA1):c.2612dupC (p.Phe872Valfs) 80357948 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244936 41244936 G GG 69288 duplication NM_007294.3(BRCA1):c.2612dupC (p.Phe872Valfs) 80357948 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092919 43092919 G GG 69289 duplication NM_007294.3(BRCA1):c.2617dupT (p.Ser873Phefs) 80357912 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244932 41244932 A AA 69289 duplication NM_007294.3(BRCA1):c.2617dupT (p.Ser873Phefs) 80357912 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092915 43092915 A AA 69290 single nucleotide variant NM_007294.3(BRCA1):c.2632G>A (p.Ala878Thr) 80357230 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244916 41244916 C T 69290 single nucleotide variant NM_007294.3(BRCA1):c.2632G>A (p.Ala878Thr) 80357230 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092899 43092899 C T 69291 single nucleotide variant NM_007294.3(BRCA1):c.2635G>A (p.Glu879Lys) 80357251 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244913 41244913 C T 69291 single nucleotide variant NM_007294.3(BRCA1):c.2635G>A (p.Glu879Lys) 80357251 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092896 43092896 C T 69292 single nucleotide variant NM_007294.3(BRCA1):c.2641G>T (p.Glu881Ter) 397508988 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244907 41244907 C A 69292 single nucleotide variant NM_007294.3(BRCA1):c.2641G>T (p.Glu881Ter) 397508988 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092890 43092890 C A 69293 deletion NM_007294.3(BRCA1):c.2643delA (p.Glu881Aspfs) 397508989 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244905 41244905 T - 69293 deletion NM_007294.3(BRCA1):c.2643delA (p.Glu881Aspfs) 397508989 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092888 43092888 T - 69294 deletion NM_007294.3(BRCA1):c.2646_2648delTGC (p.Cys882_Ser1217delinsTer) 80357513 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244900 41244902 GCA - 69294 deletion NM_007294.3(BRCA1):c.2646_2648delTGC (p.Cys882_Ser1217delinsTer) 80357513 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092883 43092885 GCA - 69295 single nucleotide variant NM_007294.3(BRCA1):c.2650A>G (p.Thr884Ala) 80357120 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244898 41244898 T C 69295 single nucleotide variant NM_007294.3(BRCA1):c.2650A>G (p.Thr884Ala) 80357120 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092881 43092881 T C 69296 deletion NM_007294.3(BRCA1):c.2657_2658delCT (p.Ser886Cysfs) 397508990 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244890 41244891 AG - 69296 deletion NM_007294.3(BRCA1):c.2657_2658delCT (p.Ser886Cysfs) 397508990 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092873 43092874 AG - 69297 insertion NM_007294.3(BRCA1):c.2659_2660insA (p.Ala887Aspfs) 397508991 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244888 41244889 - T 69297 insertion NM_007294.3(BRCA1):c.2659_2660insA (p.Ala887Aspfs) 397508991 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092871 43092872 - T 69298 duplication NM_007294.3(BRCA1):c.2659dupG (p.Ala887Glyfs) 397508991 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244889 41244889 C CC 69298 duplication NM_007294.3(BRCA1):c.2659dupG (p.Ala887Glyfs) 397508991 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092872 43092872 C CC 69299 single nucleotide variant NM_007294.3(BRCA1):c.2662C>T (p.His888Tyr) 80357480 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244886 41244886 G A 69299 single nucleotide variant NM_007294.3(BRCA1):c.2662C>T (p.His888Tyr) 80357480 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092869 43092869 G A 69300 duplication NM_007294.3(BRCA1):c.2665dupT (p.Ser889Phefs) 397508992 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244883 41244883 A AA 69300 duplication NM_007294.3(BRCA1):c.2665dupT (p.Ser889Phefs) 397508992 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092866 43092866 A AA 69301 single nucleotide variant NM_007294.3(BRCA1):c.2668G>A (p.Gly890Arg) 80357200 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244880 41244880 C T 69301 single nucleotide variant NM_007294.3(BRCA1):c.2668G>A (p.Gly890Arg) 80357200 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092863 43092863 C T 69302 single nucleotide variant NM_007294.3(BRCA1):c.266T>C (p.Ile89Thr) 80357097 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41256920 41256920 A G 69302 single nucleotide variant NM_007294.3(BRCA1):c.266T>C (p.Ile89Thr) 80357097 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43104903 43104903 A G 69303 deletion NM_007294.3(BRCA1):c.2670delG (p.Ser891Profs) 80357659 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244878 41244878 C - 69303 deletion NM_007294.3(BRCA1):c.2670delG (p.Ser891Profs) 80357659 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092861 43092861 C - 69304 deletion NM_007294.3(BRCA1):c.2671delT (p.Ser891Profs) 397508993 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244877 41244877 A - 69304 deletion NM_007294.3(BRCA1):c.2671delT (p.Ser891Profs) 397508993 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092860 43092860 A - 69305 single nucleotide variant NM_007294.3(BRCA1):c.2675T>C (p.Leu892Ser) 397508994 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244873 41244873 A G 69305 single nucleotide variant NM_007294.3(BRCA1):c.2675T>C (p.Leu892Ser) 397508994 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092856 43092856 A G 69306 deletion NM_007294.3(BRCA1):c.2675_2678delTAAA (p.Leu892Terfs) 80357518 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244870 41244873 TTTA - 69306 deletion NM_007294.3(BRCA1):c.2675_2678delTAAA (p.Leu892Terfs) 80357518 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092853 43092856 TTTA - 69307 single nucleotide variant NM_007294.3(BRCA1):c.2677A>C (p.Lys893Gln) 80357170 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244871 41244871 T G 69307 single nucleotide variant NM_007294.3(BRCA1):c.2677A>C (p.Lys893Gln) 80357170 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092854 43092854 T G 69308 deletion NM_007294.3(BRCA1):c.2679_2680delGA (p.Lys894Thrfs) 397508995 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244868 41244869 TC - 69308 deletion NM_007294.3(BRCA1):c.2679_2680delGA (p.Lys894Thrfs) 397508995 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092851 43092852 TC - 69309 single nucleotide variant NM_007294.3(BRCA1):c.267C>G (p.Ile89Met) 80356963 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41256919 41256919 G C 69309 single nucleotide variant NM_007294.3(BRCA1):c.267C>G (p.Ile89Met) 80356963 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43104902 43104902 G C 69310 deletion NM_007294.3(BRCA1):c.2682delA (p.Lys894Asnfs) 397508996 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244866 41244866 T - 69310 deletion NM_007294.3(BRCA1):c.2682delA (p.Lys894Asnfs) 397508996 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092849 43092849 T - 69311 single nucleotide variant NM_007294.3(BRCA1):c.2683C>T (p.Gln895Ter) 397508997 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244865 41244865 G A 69311 single nucleotide variant NM_007294.3(BRCA1):c.2683C>T (p.Gln895Ter) 397508997 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092848 43092848 G A 69312 deletion NM_007294.3(BRCA1):c.2683_2686delCAAA (p.Gln895Valfs) 397508998 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244862 41244865 TTTG - 69312 deletion NM_007294.3(BRCA1):c.2683_2686delCAAA (p.Gln895Valfs) 397508998 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092845 43092848 TTTG - 69313 deletion NM_007294.3(BRCA1):c.2685_2686delAA (p.Pro897Lysfs) 80357636 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244862 41244863 TT - 69313 deletion NM_007294.3(BRCA1):c.2685_2686delAA (p.Pro897Lysfs) 80357636 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092845 43092846 TT - 69314 single nucleotide variant NM_007294.3(BRCA1):c.2686A>T (p.Ser896Cys) 80357188 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244862 41244862 T A 69314 single nucleotide variant NM_007294.3(BRCA1):c.2686A>T (p.Ser896Cys) 80357188 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092845 43092845 T A 69315 insertion NM_007294.3(BRCA1):c.2689_2690insA (p.Pro897Hisfs) 397508999 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244858 41244859 - T 69315 insertion NM_007294.3(BRCA1):c.2689_2690insA (p.Pro897Hisfs) 397508999 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092841 43092842 - T 69316 single nucleotide variant NM_007294.3(BRCA1):c.2692A>G (p.Lys898Glu) 80357420 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244856 41244856 T C 69316 single nucleotide variant NM_007294.3(BRCA1):c.2692A>G (p.Lys898Glu) 80357420 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092839 43092839 T C 69317 duplication NM_007294.3(BRCA1):c.2694dupA (p.Val899Serfs) 80357549 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244854 41244854 T TT 69317 duplication NM_007294.3(BRCA1):c.2694dupA (p.Val899Serfs) 80357549 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092837 43092837 T TT 69318 single nucleotide variant NM_007294.3(BRCA1):c.269T>C (p.Ile90Thr) 80357174 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256917 41256917 A G 69318 single nucleotide variant NM_007294.3(BRCA1):c.269T>C (p.Ile90Thr) 80357174 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104900 43104900 A G 69319 deletion NM_007294.3(BRCA1):c.269_281delTTTGTGCTTTTCA (p.Ile90Serfs) 80359879 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256905 41256917 TGAAAAGCACAAA - 69319 deletion NM_007294.3(BRCA1):c.269_281delTTTGTGCTTTTCA (p.Ile90Serfs) 80359879 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104888 43104900 TGAAAAGCACAAA - 69320 deletion NM_007294.3(BRCA1):c.2702_2703delTT (p.Phe901Terfs) 80357899 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244845 41244846 AA - 69320 deletion NM_007294.3(BRCA1):c.2702_2703delTT (p.Phe901Terfs) 80357899 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092828 43092829 AA - 69321 deletion NM_007294.3(BRCA1):c.2709delT (p.Cys903Trpfs) 80357594 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244839 41244839 A - 69321 deletion NM_007294.3(BRCA1):c.2709delT (p.Cys903Trpfs) 80357594 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092822 43092822 A - 69322 single nucleotide variant NM_007294.3(BRCA1):c.2713C>T (p.Gln905Ter) 397509002 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244835 41244835 G A 69322 single nucleotide variant NM_007294.3(BRCA1):c.2713C>T (p.Gln905Ter) 397509002 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092818 43092818 G A 69323 deletion NM_007294.3(BRCA1):c.2719_2722delGAAG (p.Glu907Lysfs) 80357731 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41244826 41244829 CTTC - 69323 deletion NM_007294.3(BRCA1):c.2719_2722delGAAG (p.Glu907Lysfs) 80357731 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43092809 43092812 CTTC - 69324 single nucleotide variant NM_007294.3(BRCA1):c.2722G>T (p.Glu908Ter) 80356978 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41244826 41244826 C A 69324 single nucleotide variant NM_007294.3(BRCA1):c.2722G>T (p.Glu908Ter) 80356978 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43092809 43092809 C A 69325 deletion NM_007294.3(BRCA1):c.2726_2730delATCAA (p.Asn909Argfs) 80357712 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244818 41244822 TTGAT - 69325 deletion NM_007294.3(BRCA1):c.2726_2730delATCAA (p.Asn909Argfs) 80357712 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092801 43092805 TTGAT - 69326 deletion NM_007294.3(BRCA1):c.2726delA (p.Asn909Ilefs) 80357614 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244822 41244822 T - 69326 deletion NM_007294.3(BRCA1):c.2726delA (p.Asn909Ilefs) 80357614 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092805 43092805 T - 69327 duplication NM_007294.3(BRCA1):c.2726dupA (p.Asn909Lysfs) 80357685 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41244822 41244822 T TT 69327 duplication NM_007294.3(BRCA1):c.2726dupA (p.Asn909Lysfs) 80357685 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43092805 43092805 T TT 69328 deletion NM_007294.3(BRCA1):c.2727_2730delTCAA (p.Asn909Lysfs) 80357605 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41244818 41244821 TTGA - 69328 deletion NM_007294.3(BRCA1):c.2727_2730delTCAA (p.Asn909Lysfs) 80357605 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43092801 43092804 TTGA - 69329 single nucleotide variant NM_007294.3(BRCA1):c.2728C>T (p.Gln910Ter) 397509004 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092803 43092803 G A 69330 deletion NM_007294.3(BRCA1):c.2728delC (p.Gln910Lysfs) 397509005 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244820 41244820 G - 69330 deletion NM_007294.3(BRCA1):c.2728delC (p.Gln910Lysfs) 397509005 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092803 43092803 G - 69331 single nucleotide variant NM_007294.3(BRCA1):c.2733A>G (p.Gly911=) 1800740 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244815 41244815 T C 69331 single nucleotide variant NM_007294.3(BRCA1):c.2733A>G (p.Gly911=) 1800740 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092798 43092798 T C 69332 single nucleotide variant NM_007294.3(BRCA1):c.2739T>A (p.Asn913Lys) 273899688 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244809 41244809 A T 69332 single nucleotide variant NM_007294.3(BRCA1):c.2739T>A (p.Asn913Lys) 273899688 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092792 43092792 A T 69333 single nucleotide variant NM_007294.3(BRCA1):c.273T>G (p.Cys91Trp) 397509006 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256913 41256913 A C 69333 single nucleotide variant NM_007294.3(BRCA1):c.273T>G (p.Cys91Trp) 397509006 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104896 43104896 A C 69334 single nucleotide variant NM_007294.3(BRCA1):c.2740G>T (p.Glu914Ter) 80357419 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244808 41244808 C A 69334 single nucleotide variant NM_007294.3(BRCA1):c.2740G>T (p.Glu914Ter) 80357419 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092791 43092791 C A 69335 deletion NM_007294.3(BRCA1):c.2744_2745delCT (p.Ser915Terfs) 80357540 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244803 41244804 AG - 69335 deletion NM_007294.3(BRCA1):c.2744_2745delCT (p.Ser915Terfs) 80357540 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092786 43092787 AG - 69337 duplication NM_007294.3(BRCA1):c.2749dupA (p.Ile917Asnfs) 80357942 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244799 41244799 T TT 69337 duplication NM_007294.3(BRCA1):c.2749dupA (p.Ile917Asnfs) 80357942 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092782 43092782 T TT 69338 single nucleotide variant NM_007294.3(BRCA1):c.2752A>C (p.Lys918Gln) 397509010 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244796 41244796 T G 69338 single nucleotide variant NM_007294.3(BRCA1):c.2752A>C (p.Lys918Gln) 397509010 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092779 43092779 T G 69339 single nucleotide variant NM_007294.3(BRCA1):c.2759T>C (p.Val920Ala) 80357008 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244789 41244789 A G 69339 single nucleotide variant NM_007294.3(BRCA1):c.2759T>C (p.Val920Ala) 80357008 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092772 43092772 A G 69340 single nucleotide variant NM_007294.3(BRCA1):c.2761C>T (p.Gln921Ter) 80357377 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244787 41244787 G A 69340 single nucleotide variant NM_007294.3(BRCA1):c.2761C>T (p.Gln921Ter) 80357377 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092770 43092770 G A 69341 deletion NM_007294.3(BRCA1):c.2762delA (p.Gln921Argfs) 80357703 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244786 41244786 T - 69341 deletion NM_007294.3(BRCA1):c.2762delA (p.Gln921Argfs) 80357703 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092769 43092769 T - 69342 deletion NM_007294.3(BRCA1):c.2764_2767delACAG (p.Thr922Leufs) 80357822 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244781 41244784 CTGT - 69342 deletion NM_007294.3(BRCA1):c.2764_2767delACAG (p.Thr922Leufs) 80357822 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092764 43092767 CTGT - 69343 single nucleotide variant NM_007294.3(BRCA1):c.2765C>G (p.Thr922Arg) 80357460 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244783 41244783 G C 69343 single nucleotide variant NM_007294.3(BRCA1):c.2765C>G (p.Thr922Arg) 80357460 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092766 43092766 G C 69344 deletion NM_007294.3(BRCA1):c.2766delA (p.Val923Leufs) 80357812 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41244782 41244782 T - 69344 deletion NM_007294.3(BRCA1):c.2766delA (p.Val923Leufs) 80357812 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43092765 43092765 T - 69345 deletion NM_007294.3(BRCA1):c.2767_2770delGTTA (p.Val923Ilefs) 80357661 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244778 41244781 TAAC - 69345 deletion NM_007294.3(BRCA1):c.2767_2770delGTTA (p.Val923Ilefs) 80357661 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092761 43092764 TAAC - 69346 single nucleotide variant NM_007294.3(BRCA1):c.2782G>A (p.Gly928Ser) 80356995 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244766 41244766 C T 69346 single nucleotide variant NM_007294.3(BRCA1):c.2782G>A (p.Gly928Ser) 80356995 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092749 43092749 C T 69347 single nucleotide variant NM_007294.3(BRCA1):c.2789C>T (p.Pro930Leu) 80357256 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244759 41244759 G A 69347 single nucleotide variant NM_007294.3(BRCA1):c.2789C>T (p.Pro930Leu) 80357256 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092742 43092742 G A 69348 deletion NM_007294.3(BRCA1):c.2796_2799delTGGT (p.Gly933Argfs) 80357840 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244749 41244752 ACCA - 69348 deletion NM_007294.3(BRCA1):c.2796_2799delTGGT (p.Gly933Argfs) 80357840 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092732 43092735 ACCA - 69349 deletion NM_007294.3(BRCA1):c.2798_2799delGT (p.Gly933Alafs) 397509011 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244749 41244750 AC - 69349 deletion NM_007294.3(BRCA1):c.2798_2799delGT (p.Gly933Alafs) 397509011 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092732 43092733 AC - 69350 single nucleotide variant NM_007294.3(BRCA1):c.2800C>T (p.Gln934Ter) 80357223 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41244748 41244748 G A 69350 single nucleotide variant NM_007294.3(BRCA1):c.2800C>T (p.Gln934Ter) 80357223 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43092731 43092731 G A 69351 deletion NM_007294.3(BRCA1):c.2805delA (p.Asp936Ilefs) 397509012 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244743 41244743 T - 69351 deletion NM_007294.3(BRCA1):c.2805delA (p.Asp936Ilefs) 397509012 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092726 43092726 T - 69352 deletion NM_007294.3(BRCA1):c.2808_2811delTAAG (p.Lys937Glnfs) 397509013 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244737 41244740 CTTA - 69352 deletion NM_007294.3(BRCA1):c.2808_2811delTAAG (p.Lys937Glnfs) 397509013 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092720 43092723 CTTA - 69353 deletion NM_007294.3(BRCA1):c.2812_2813delCC (p.Pro938Serfs) 730882056 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244735 41244736 GG - 69353 deletion NM_007294.3(BRCA1):c.2812_2813delCC (p.Pro938Serfs) 730882056 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092718 43092719 GG - 69354 indel NM_007294.3(BRCA1):c.2812_2813delCCinsG (p.Pro938Glufs) 273899689 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244735 41244736 GG C 69354 indel NM_007294.3(BRCA1):c.2812_2813delCCinsG (p.Pro938Glufs) 273899689 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092718 43092719 GG C 69355 single nucleotide variant NM_007294.3(BRCA1):c.2814A>G (p.Pro938=) 80356851 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244734 41244734 T C 69355 single nucleotide variant NM_007294.3(BRCA1):c.2814A>G (p.Pro938=) 80356851 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092717 43092717 T C 69356 single nucleotide variant NM_007294.3(BRCA1):c.2818G>T (p.Asp940Tyr) 80357077 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244730 41244730 C A 69356 single nucleotide variant NM_007294.3(BRCA1):c.2818G>T (p.Asp940Tyr) 80357077 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092713 43092713 C A 69357 deletion NM_007294.3(BRCA1):c.2830delT (p.Cys944Valfs) 397509014 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244718 41244718 A - 69358 single nucleotide variant NM_007294.3(BRCA1):c.2832T>A (p.Cys944Ter) 80357458 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244716 41244716 A T 69358 single nucleotide variant NM_007294.3(BRCA1):c.2832T>A (p.Cys944Ter) 80357458 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092699 43092699 A T 69359 deletion NM_007294.3(BRCA1):c.2834_2835delGT (p.Ser945Asnfs) 397509015 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244713 41244714 AC - 69359 deletion NM_007294.3(BRCA1):c.2834_2835delGT (p.Ser945Asnfs) 397509015 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092696 43092697 AC - 69360 deletion NM_007294.3(BRCA1):c.2834_2836delGTA (p.Ser945del) 80358332 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 41244712 41244714 TAC - 69360 deletion NM_007294.3(BRCA1):c.2834_2836delGTA (p.Ser945del) 80358332 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 43092695 43092697 TAC - 69361 indel NM_007294.3(BRCA1):c.2834_2836delGTAinsC (p.Ser945Thrfs) 386134270 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41244712 41244714 TAC G 69361 indel NM_007294.3(BRCA1):c.2834_2836delGTAinsC (p.Ser945Thrfs) 386134270 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43092695 43092697 TAC G 69362 duplication NM_007294.3(BRCA1):c.2835dupT (p.Ile946Tyrfs) 80357519 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244713 41244713 A AA 69362 duplication NM_007294.3(BRCA1):c.2835dupT (p.Ile946Tyrfs) 80357519 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092696 43092696 A AA 69363 deletion NM_007294.3(BRCA1):c.2836_2837delAT (p.Ile946Glnfs) 397509016 MedGen:C2676676,OMIM:604370 17 41244711 41244712 AT - 69363 deletion NM_007294.3(BRCA1):c.2836_2837delAT (p.Ile946Glnfs) 397509016 MedGen:C2676676,OMIM:604370 17 43092694 43092695 AT - 69364 deletion NM_007294.3(BRCA1):c.2840_2841delAA (p.Lys947Argfs) 80357984 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244707 41244708 TT - 69364 deletion NM_007294.3(BRCA1):c.2840_2841delAA (p.Lys947Argfs) 80357984 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092690 43092691 TT - 69365 deletion NM_007294.3(BRCA1):c.2844_2853delAGGCTCTAGG (p.Gly949Phefs) 397509017 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244695 41244704 CCTAGAGCCT - 69365 deletion NM_007294.3(BRCA1):c.2844_2853delAGGCTCTAGG (p.Gly949Phefs) 397509017 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092678 43092687 CCTAGAGCCT - 69366 duplication NM_007294.3(BRCA1):c.2848dupT (p.Ser950Phefs) 397509018 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244700 41244700 A AA 69366 duplication NM_007294.3(BRCA1):c.2848dupT (p.Ser950Phefs) 397509018 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092683 43092683 A AA 69367 deletion NM_007294.3(BRCA1):c.2856_2857delTT (p.Phe952Leufs) 397509019 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244691 41244692 AA - 69367 deletion NM_007294.3(BRCA1):c.2856_2857delTT (p.Phe952Leufs) 397509019 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092674 43092675 AA - 69368 single nucleotide variant NM_007294.3(BRCA1):c.2864C>A (p.Ser955Ter) 80357295 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41244684 41244684 G T 69368 single nucleotide variant NM_007294.3(BRCA1):c.2864C>A (p.Ser955Ter) 80357295 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43092667 43092667 G T 69369 deletion NM_007294.3(BRCA1):c.2866_2870delTCTCA (p.Ser956Valfs) 80357819 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN221809 17 41244678 41244682 TGAGA - 69369 deletion NM_007294.3(BRCA1):c.2866_2870delTCTCA (p.Ser956Valfs) 80357819 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN221809 17 43092661 43092665 TGAGA - 69370 single nucleotide variant NM_007294.3(BRCA1):c.2869C>T (p.Gln957Ter) 80356973 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244679 41244679 G A 69370 single nucleotide variant NM_007294.3(BRCA1):c.2869C>T (p.Gln957Ter) 80356973 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092662 43092662 G A 69371 single nucleotide variant NM_007294.3(BRCA1):c.286G>A (p.Asp96Asn) 80357110 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256900 41256900 C T 69371 single nucleotide variant NM_007294.3(BRCA1):c.286G>A (p.Asp96Asn) 80357110 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104883 43104883 C T 69373 single nucleotide variant NM_007294.3(BRCA1):c.2872T>A (p.Phe958Ile) 80356878 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244676 41244676 A T 69373 single nucleotide variant NM_007294.3(BRCA1):c.2872T>A (p.Phe958Ile) 80356878 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092659 43092659 A T 69374 deletion NM_007294.3(BRCA1):c.2872_2876delTTCAG (p.Phe958Argfs) 397509021 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244672 41244676 CTGAA - 69374 deletion NM_007294.3(BRCA1):c.2872_2876delTTCAG (p.Phe958Argfs) 397509021 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092655 43092659 CTGAA - 69375 single nucleotide variant NM_007294.3(BRCA1):c.2879G>A (p.Gly960Asp) 397509022 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244669 41244669 C T 69375 single nucleotide variant NM_007294.3(BRCA1):c.2879G>A (p.Gly960Asp) 397509022 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092652 43092652 C T 69376 single nucleotide variant NM_007294.3(BRCA1):c.2884G>A (p.Glu962Lys) 80356955 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244664 41244664 C T 69376 single nucleotide variant NM_007294.3(BRCA1):c.2884G>A (p.Glu962Lys) 80356955 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092647 43092647 C T 69377 deletion NM_007294.3(BRCA1):c.2887delA (p.Thr963Leufs) 80357559 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244661 41244661 T - 69377 deletion NM_007294.3(BRCA1):c.2887delA (p.Thr963Leufs) 80357559 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092644 43092644 T - 69378 single nucleotide variant NM_007294.3(BRCA1):c.2899A>T (p.Thr967Ser) 273899690 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244649 41244649 T A 69378 single nucleotide variant NM_007294.3(BRCA1):c.2899A>T (p.Thr967Ser) 273899690 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092632 43092632 T A 69379 deletion NM_007294.3(BRCA1):c.290_291delCA (p.Thr97Argfs) 80357738 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256895 41256896 TG - 69379 deletion NM_007294.3(BRCA1):c.290_291delCA (p.Thr97Argfs) 80357738 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104878 43104879 TG - 69380 deletion NM_007294.3(BRCA1):c.2910delA (p.Lys970Asnfs) 80357893 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244638 41244638 T - 69380 deletion NM_007294.3(BRCA1):c.2910delA (p.Lys970Asnfs) 80357893 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092621 43092621 T - 69381 single nucleotide variant NM_007294.3(BRCA1):c.2911C>A (p.His971Asn) 80357478 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244637 41244637 G T 69381 single nucleotide variant NM_007294.3(BRCA1):c.2911C>A (p.His971Asn) 80357478 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092620 43092620 G T 69382 single nucleotide variant NM_007294.3(BRCA1):c.2914G>T (p.Gly972Ter) 397509023 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244634 41244634 C A 69382 single nucleotide variant NM_007294.3(BRCA1):c.2914G>T (p.Gly972Ter) 397509023 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092617 43092617 C A 69383 deletion NM_007294.3(BRCA1):c.2915delG (p.Gly972Aspfs) 80357573 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244633 41244633 C - 69383 deletion NM_007294.3(BRCA1):c.2915delG (p.Gly972Aspfs) 80357573 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092616 43092616 C - 69384 single nucleotide variant NM_007294.3(BRCA1):c.2917C>G (p.Leu973Val) 80357080 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244631 41244631 G C 69384 single nucleotide variant NM_007294.3(BRCA1):c.2917C>G (p.Leu973Val) 80357080 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092614 43092614 G C 69385 deletion NM_007294.3(BRCA1):c.2920_2921delTT (p.Leu974Thrfs) 80357611 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244627 41244628 AA - 69385 deletion NM_007294.3(BRCA1):c.2920_2921delTT (p.Leu974Thrfs) 80357611 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092610 43092611 AA - 69386 single nucleotide variant NM_007294.3(BRCA1):c.2921T>A (p.Leu974Ter) 80356872 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244627 41244627 A T 69386 single nucleotide variant NM_007294.3(BRCA1):c.2921T>A (p.Leu974Ter) 80356872 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092610 43092610 A T 69387 single nucleotide variant NM_007294.3(BRCA1):c.2921T>C (p.Leu974Ser) 80356872 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244627 41244627 A G 69387 single nucleotide variant NM_007294.3(BRCA1):c.2921T>C (p.Leu974Ser) 80356872 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092610 43092610 A G 69388 duplication NM_007294.3(BRCA1):c.2921dupT (p.Leu974Phefs) 397509024 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244627 41244627 A AA 69388 duplication NM_007294.3(BRCA1):c.2921dupT (p.Leu974Phefs) 397509024 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092610 43092610 A AA 69389 single nucleotide variant NM_007294.3(BRCA1):c.2923C>T (p.Gln975Ter) 80357497 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244625 41244625 G A 69389 single nucleotide variant NM_007294.3(BRCA1):c.2923C>T (p.Gln975Ter) 80357497 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092608 43092608 G A 69390 duplication NM_007294.3(BRCA1):c.2929_2930dupCC (p.Tyr978Hisfs) 397509025 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244618 41244619 GG GGGG 69390 duplication NM_007294.3(BRCA1):c.2929_2930dupCC (p.Tyr978Hisfs) 397509025 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092601 43092602 GG GGGG 69391 single nucleotide variant NM_007294.3(BRCA1):c.292G>C (p.Gly98Arg) 80357409 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256894 41256894 C G 69391 single nucleotide variant NM_007294.3(BRCA1):c.292G>C (p.Gly98Arg) 80357409 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104877 43104877 C G 69392 single nucleotide variant NM_007294.3(BRCA1):c.2931A>G (p.Pro977=) 273899691 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244617 41244617 T C 69392 single nucleotide variant NM_007294.3(BRCA1):c.2931A>G (p.Pro977=) 273899691 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092600 43092600 T C 69393 deletion NM_007294.3(BRCA1):c.2934delT (p.Arg979Valfs) 80357741 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244614 41244614 A - 69393 deletion NM_007294.3(BRCA1):c.2934delT (p.Arg979Valfs) 80357741 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092597 43092597 A - 69400 deletion NM_007294.3(BRCA1):c.2967delT (p.Phe989Leufs) 397509028 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092564 43092564 A - 69394 single nucleotide variant NM_007294.3(BRCA1):c.2935C>T (p.Arg979Cys) 80356970 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41244613 41244613 G A 69394 single nucleotide variant NM_007294.3(BRCA1):c.2935C>T (p.Arg979Cys) 80356970 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43092596 43092596 G A 69395 single nucleotide variant NM_007294.3(BRCA1):c.2936G>A (p.Arg979His) 80356985 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244612 41244612 C T 69395 single nucleotide variant NM_007294.3(BRCA1):c.2936G>A (p.Arg979His) 80356985 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092595 43092595 C T 69396 deletion NM_007294.3(BRCA1):c.2952delT (p.Ile986Serfs) 80357627 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244596 41244596 A - 69396 deletion NM_007294.3(BRCA1):c.2952delT (p.Ile986Serfs) 80357627 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092579 43092579 A - 69397 duplication NM_007294.3(BRCA1):c.2952dupT (p.Pro985Serfs) 397509026 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244596 41244596 A AA 69397 duplication NM_007294.3(BRCA1):c.2952dupT (p.Pro985Serfs) 397509026 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092579 43092579 A AA 69398 deletion NM_007294.3(BRCA1):c.2955delC (p.Ile986Serfs) 397509027 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244593 41244593 G - 69398 deletion NM_007294.3(BRCA1):c.2955delC (p.Ile986Serfs) 397509027 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092576 43092576 G - 69399 single nucleotide variant NM_007294.3(BRCA1):c.2963C>A (p.Ser988Ter) 397507206 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244585 41244585 G T 69399 single nucleotide variant NM_007294.3(BRCA1):c.2963C>A (p.Ser988Ter) 397507206 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092568 43092568 G T 69400 deletion NM_007294.3(BRCA1):c.2967delT (p.Phe989Leufs) 397509028 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244581 41244581 A - 69401 single nucleotide variant NM_007294.3(BRCA1):c.2968G>A (p.Val990Ile) 397509029 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244580 41244580 C T 69401 single nucleotide variant NM_007294.3(BRCA1):c.2968G>A (p.Val990Ile) 397509029 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092563 43092563 C T 69402 deletion NM_007294.3(BRCA1):c.2973_2979delAACTAAA (p.Lys991Asnfs) 397509030 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244569 41244575 TTTAGTT - 69402 deletion NM_007294.3(BRCA1):c.2973_2979delAACTAAA (p.Lys991Asnfs) 397509030 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092552 43092558 TTTAGTT - 69403 deletion NM_007294.3(BRCA1):c.2974_2990del17 (p.Thr992Serfs) 397509031 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244558 41244574 na na 69403 deletion NM_007294.3(BRCA1):c.2974_2990del17 (p.Thr992Serfs) 397509031 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092541 43092557 na na 69404 deletion NM_007294.3(BRCA1):c.2980delT (p.Cys994Valfs) 80357502 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244568 41244568 A - 69404 deletion NM_007294.3(BRCA1):c.2980delT (p.Cys994Valfs) 80357502 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092551 43092551 A - 69405 duplication NM_007294.3(BRCA1):c.2989_2990dupAA (p.Asn997Lysfs) 80357829 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41244558 41244559 TT TTTT 69405 duplication NM_007294.3(BRCA1):c.2989_2990dupAA (p.Asn997Lysfs) 80357829 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43092541 43092542 TT TTTT 69406 deletion NM_007294.3(BRCA1):c.2990delA (p.Asn997Ilefs) 397509032 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244558 41244558 T - 69406 deletion NM_007294.3(BRCA1):c.2990delA (p.Asn997Ilefs) 397509032 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092541 43092541 T - 69407 single nucleotide variant NM_007294.3(BRCA1):c.2995C>T (p.Leu999=) 80356848 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244553 41244553 G A 69407 single nucleotide variant NM_007294.3(BRCA1):c.2995C>T (p.Leu999=) 80356848 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092536 43092536 G A 69408 single nucleotide variant NM_007294.3(BRCA1):c.2995C>A (p.Leu999Ile) 80356848 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092536 43092536 G T 69409 single nucleotide variant NM_007294.3(BRCA1):c.2998G>A (p.Glu1000Lys) 80357124 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244550 41244550 C T 69409 single nucleotide variant NM_007294.3(BRCA1):c.2998G>A (p.Glu1000Lys) 80357124 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092533 43092533 C T 69410 deletion NM_007294.3(BRCA1):c.2998_3003delGAGGAA (p.Glu1000_Glu1001del) 80358333 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244545 41244550 TTCCTC - 69410 deletion NM_007294.3(BRCA1):c.2998_3003delGAGGAA (p.Glu1000_Glu1001del) 80358333 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092528 43092533 TTCCTC - 69411 deletion NM_007294.3(BRCA1):c.2999delA (p.Glu1000Glyfs) 80357991 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41244549 41244549 T - 69411 deletion NM_007294.3(BRCA1):c.2999delA (p.Glu1000Glyfs) 80357991 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43092532 43092532 T - 69412 single nucleotide variant NM_007294.3(BRCA1):c.2T>C (p.Met1Thr) 80357111 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41276112 41276112 A G 69412 single nucleotide variant NM_007294.3(BRCA1):c.2T>C (p.Met1Thr) 80357111 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43124095 43124095 A G 69413 single nucleotide variant NM_007294.3(BRCA1):c.2T>G (p.Met1Arg) 80357111 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41276112 41276112 A C 69413 single nucleotide variant NM_007294.3(BRCA1):c.2T>G (p.Met1Arg) 80357111 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43124095 43124095 A C 69414 deletion NM_007294.3(BRCA1):c.3008_3009delTT (p.Phe1003Terfs) 80357617 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244539 41244540 AA - 69460 deletion NM_007294.3(BRCA1):c.3183delA (p.Ile1061Metfs) 397509046 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244365 41244365 T - 69414 deletion NM_007294.3(BRCA1):c.3008_3009delTT (p.Phe1003Terfs) 80357617 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092522 43092523 AA - 69415 deletion NM_007294.3(BRCA1):c.3013delG (p.Glu1005Asnfs) 80357937 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244535 41244535 C - 69415 deletion NM_007294.3(BRCA1):c.3013delG (p.Glu1005Asnfs) 80357937 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092518 43092518 C - 69416 deletion NM_007294.3(BRCA1):c.3018_3021delTTCA (p.His1006Glnfs) 80357749 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244527 41244530 TGAA - 69416 deletion NM_007294.3(BRCA1):c.3018_3021delTTCA (p.His1006Glnfs) 80357749 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092510 43092513 TGAA - 69417 single nucleotide variant NM_007294.3(BRCA1):c.302-1G>A 80358116 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256279 41256279 C T 69417 single nucleotide variant NM_007294.3(BRCA1):c.302-1G>A 80358116 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104262 43104262 C T 69418 single nucleotide variant NM_007294.3(BRCA1):c.302-1G>C 80358116 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256279 41256279 C G 69418 single nucleotide variant NM_007294.3(BRCA1):c.302-1G>C 80358116 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104262 43104262 C G 69419 single nucleotide variant NM_007294.3(BRCA1):c.302-2A>G 80358011 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256280 41256280 T C 69419 single nucleotide variant NM_007294.3(BRCA1):c.302-2A>G 80358011 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104263 43104263 T C 69420 deletion NM_007294.3(BRCA1):c.302-2delA 273899695 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41256280 41256280 T - 69420 deletion NM_007294.3(BRCA1):c.302-2delA 273899695 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43104263 43104263 T - 69421 single nucleotide variant NM_007294.3(BRCA1):c.3020C>G (p.Ser1007Ter) 80357168 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244528 41244528 G C 69421 single nucleotide variant NM_007294.3(BRCA1):c.3020C>G (p.Ser1007Ter) 80357168 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092511 43092511 G C 69422 single nucleotide variant NM_007294.3(BRCA1):c.3022A>G (p.Met1008Val) 56321129 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;Human Phenotype Ontology:HP:0012125,MedGen:CN167851;MedGen:CN169374 17 41244526 41244526 T C 69422 single nucleotide variant NM_007294.3(BRCA1):c.3022A>G (p.Met1008Val) 56321129 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;Human Phenotype Ontology:HP:0012125,MedGen:CN167851;MedGen:CN169374 17 43092509 43092509 T C 69423 single nucleotide variant NM_007294.3(BRCA1):c.3026C>A (p.Ser1009Ter) 273899696 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244522 41244522 G T 69423 single nucleotide variant NM_007294.3(BRCA1):c.3026C>A (p.Ser1009Ter) 273899696 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092505 43092505 G T 69424 deletion NM_007294.3(BRCA1):c.3029_3030delCT (p.Pro1010Argfs) 80357510 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41244518 41244519 AG - 69424 deletion NM_007294.3(BRCA1):c.3029_3030delCT (p.Pro1010Argfs) 80357510 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43092501 43092502 AG - 69425 single nucleotide variant NM_007294.3(BRCA1):c.303T>G (p.Tyr101Ter) 80356936 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41256277 41256277 A C 69425 single nucleotide variant NM_007294.3(BRCA1):c.303T>G (p.Tyr101Ter) 80356936 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43104260 43104260 A C 69460 deletion NM_007294.3(BRCA1):c.3183delA (p.Ile1061Metfs) 397509046 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092348 43092348 T - 69426 single nucleotide variant NM_007294.3(BRCA1):c.3040A>G (p.Met1014Val) 80356933 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244508 41244508 T C 69426 single nucleotide variant NM_007294.3(BRCA1):c.3040A>G (p.Met1014Val) 80356933 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092491 43092491 T C 69427 single nucleotide variant NM_007294.3(BRCA1):c.3040A>T (p.Met1014Leu) 80356933 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244508 41244508 T A 69427 single nucleotide variant NM_007294.3(BRCA1):c.3040A>T (p.Met1014Leu) 80356933 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092491 43092491 T A 69428 single nucleotide variant NM_007294.3(BRCA1):c.3041T>A (p.Met1014Lys) 80357020 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244507 41244507 A T 69428 single nucleotide variant NM_007294.3(BRCA1):c.3041T>A (p.Met1014Lys) 80357020 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092490 43092490 A T 69429 single nucleotide variant NM_007294.3(BRCA1):c.3046A>G (p.Asn1016Asp) 80357154 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244502 41244502 T C 69429 single nucleotide variant NM_007294.3(BRCA1):c.3046A>G (p.Asn1016Asp) 80357154 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092485 43092485 T C 69430 duplication NM_007294.3(BRCA1):c.3048_3052dupTGAGA (p.Asn1018Metfs) 80357856 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41244496 41244500 TCTCA TCTCATCTCA 69430 duplication NM_007294.3(BRCA1):c.3048_3052dupTGAGA (p.Asn1018Metfs) 80357856 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43092479 43092483 TCTCA TCTCATCTCA 69431 single nucleotide variant NM_007294.3(BRCA1):c.3049G>T (p.Glu1017Ter) 80357004 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244499 41244499 C A 69431 single nucleotide variant NM_007294.3(BRCA1):c.3049G>T (p.Glu1017Ter) 80357004 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092482 43092482 C A 69432 single nucleotide variant NM_007294.3(BRCA1):c.3072C>G (p.Ser1024Arg) 397509033 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244476 41244476 G C 69432 single nucleotide variant NM_007294.3(BRCA1):c.3072C>G (p.Ser1024Arg) 397509033 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092459 43092459 G C 69433 single nucleotide variant NM_007294.3(BRCA1):c.3074C>T (p.Thr1025Ile) 397509034 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244474 41244474 G A 69433 single nucleotide variant NM_007294.3(BRCA1):c.3074C>T (p.Thr1025Ile) 397509034 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092457 43092457 G A 69434 single nucleotide variant NM_007294.3(BRCA1):c.3080G>A (p.Ser1027Asn) 80357386 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244468 41244468 C T 69434 single nucleotide variant NM_007294.3(BRCA1):c.3080G>A (p.Ser1027Asn) 80357386 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092451 43092451 C T 69435 deletion NM_007294.3(BRCA1):c.3084_3094delTAATAACATTA (p.Asn1029Argfs) 80357647 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41244454 41244464 TAATGTTATTA - 69435 deletion NM_007294.3(BRCA1):c.3084_3094delTAATAACATTA (p.Asn1029Argfs) 80357647 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43092437 43092447 TAATGTTATTA - 69436 single nucleotide variant NM_007294.3(BRCA1):c.3097G>T (p.Glu1033Ter) 273899698 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244451 41244451 C A 69436 single nucleotide variant NM_007294.3(BRCA1):c.3097G>T (p.Glu1033Ter) 273899698 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092434 43092434 C A 69437 deletion NM_007294.3(BRCA1):c.3107_3112delTTAAAG (p.Phe1036_Cys1372delinsTer) 80357920 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244436 41244441 CTTTAA - 69437 deletion NM_007294.3(BRCA1):c.3107_3112delTTAAAG (p.Phe1036_Cys1372delinsTer) 80357920 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092419 43092424 CTTTAA - 69438 deletion NM_007294.3(BRCA1):c.3108delT (p.Phe1036Leufs) 80357841 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244440 41244440 A - 69438 deletion NM_007294.3(BRCA1):c.3108delT (p.Phe1036Leufs) 80357841 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092423 43092423 A - 69439 duplication NM_007294.3(BRCA1):c.3108dupT (p.Lys1037Terfs) 273899699 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244440 41244440 A AA 69439 duplication NM_007294.3(BRCA1):c.3108dupT (p.Lys1037Terfs) 273899699 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092423 43092423 A AA 69440 single nucleotide variant NM_007294.3(BRCA1):c.3122C>G (p.Ser1041Ter) 397509035 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244426 41244426 G C 69440 single nucleotide variant NM_007294.3(BRCA1):c.3122C>G (p.Ser1041Ter) 397509035 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092409 43092409 G C 69441 deletion NM_007294.3(BRCA1):c.3125_3134delGCAATATTAA (p.Ser1042Metfs) 397509036 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244414 41244423 TTAATATTGC - 69441 deletion NM_007294.3(BRCA1):c.3125_3134delGCAATATTAA (p.Ser1042Metfs) 397509036 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092397 43092406 TTAATATTGC - 69442 single nucleotide variant NM_007294.3(BRCA1):c.3140T>C (p.Val1047Ala) 397509037 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244408 41244408 A G 69442 single nucleotide variant NM_007294.3(BRCA1):c.3140T>C (p.Val1047Ala) 397509037 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092391 43092391 A G 69443 single nucleotide variant NM_007294.3(BRCA1):c.3143G>A (p.Gly1048Asp) 80356899 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244405 41244405 C T 69443 single nucleotide variant NM_007294.3(BRCA1):c.3143G>A (p.Gly1048Asp) 80356899 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092388 43092388 C T 69444 single nucleotide variant NM_007294.3(BRCA1):c.3143G>T (p.Gly1048Val) 80356899 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244405 41244405 C A 69444 single nucleotide variant NM_007294.3(BRCA1):c.3143G>T (p.Gly1048Val) 80356899 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092388 43092388 C A 69445 single nucleotide variant NM_007294.3(BRCA1):c.3144T>C (p.Gly1048=) 80356837 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244404 41244404 A G 69445 single nucleotide variant NM_007294.3(BRCA1):c.3144T>C (p.Gly1048=) 80356837 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092387 43092387 A G 69446 deletion NM_007294.3(BRCA1):c.3145delT (p.Ser1049Profs) 397509038 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244403 41244403 A - 69446 deletion NM_007294.3(BRCA1):c.3145delT (p.Ser1049Profs) 397509038 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092386 43092386 A - 69447 single nucleotide variant NM_007294.3(BRCA1):c.314A>G (p.Tyr105Cys) 28897673 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41256266 41256266 T C 69447 single nucleotide variant NM_007294.3(BRCA1):c.314A>G (p.Tyr105Cys) 28897673 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43104249 43104249 T C 69448 single nucleotide variant NM_007294.3(BRCA1):c.3152C>G (p.Thr1051Ser) 397509039 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244396 41244396 G C 69448 single nucleotide variant NM_007294.3(BRCA1):c.3152C>G (p.Thr1051Ser) 397509039 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092379 43092379 G C 69449 deletion NM_007294.3(BRCA1):c.3155delA (p.Asn1052Metfs) 397509040 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244393 41244393 T - 69449 deletion NM_007294.3(BRCA1):c.3155delA (p.Asn1052Metfs) 397509040 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092376 43092376 T - 69450 deletion NM_007294.3(BRCA1):c.3157delG (p.Glu1053Lysfs) 397509041 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244391 41244391 C - 69450 deletion NM_007294.3(BRCA1):c.3157delG (p.Glu1053Lysfs) 397509041 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092374 43092374 C - 69451 duplication NM_007294.3(BRCA1):c.3157dupG (p.Glu1053Glyfs) 397509042 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244391 41244391 C CC 69451 duplication NM_007294.3(BRCA1):c.3157dupG (p.Glu1053Glyfs) 397509042 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092374 43092374 C CC 69452 deletion NM_007294.3(BRCA1):c.3164delG (p.Gly1055Alafs) 397509043 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244384 41244384 C - 69452 deletion NM_007294.3(BRCA1):c.3164delG (p.Gly1055Alafs) 397509043 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092367 43092367 C - 69453 deletion NM_007294.3(BRCA1):c.3168delC (p.Ser1057Valfs) 397509044 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244380 41244380 G - 69453 deletion NM_007294.3(BRCA1):c.3168delC (p.Ser1057Valfs) 397509044 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092363 43092363 G - 69454 single nucleotide variant NM_007294.3(BRCA1):c.3169A>G (p.Ser1057Gly) 80357479 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244379 41244379 T C 69454 single nucleotide variant NM_007294.3(BRCA1):c.3169A>G (p.Ser1057Gly) 80357479 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092362 43092362 T C 69455 deletion NM_007294.3(BRCA1):c.3169_3172delAGTA (p.Ser1057Leufs) 397509045 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244376 41244379 TACT - 69455 deletion NM_007294.3(BRCA1):c.3169_3172delAGTA (p.Ser1057Leufs) 397509045 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092359 43092362 TACT - 69456 single nucleotide variant NM_007294.3(BRCA1):c.3178G>T (p.Glu1060Ter) 80357424 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41244370 41244370 C A 69456 single nucleotide variant NM_007294.3(BRCA1):c.3178G>T (p.Glu1060Ter) 80357424 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43092353 43092353 C A 69457 single nucleotide variant NM_007294.3(BRCA1):c.3179A>C (p.Glu1060Ala) 80357184 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244369 41244369 T G 69457 single nucleotide variant NM_007294.3(BRCA1):c.3179A>C (p.Glu1060Ala) 80357184 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092352 43092352 T G 69458 deletion NM_007294.3(BRCA1):c.317delA (p.Asn106Ilefs) 80357950 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256263 41256263 T - 69458 deletion NM_007294.3(BRCA1):c.317delA (p.Asn106Ilefs) 80357950 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104246 43104246 T - 69459 deletion NM_007294.3(BRCA1):c.3181delA (p.Ile1061Terfs) 80357702 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244367 41244367 T - 69459 deletion NM_007294.3(BRCA1):c.3181delA (p.Ile1061Terfs) 80357702 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092350 43092350 T - 69461 indel NM_007294.3(BRCA1):c.3188_3189delCCinsG (p.Ser1063Terfs) 273899701 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244359 41244360 GG C 69461 indel NM_007294.3(BRCA1):c.3188_3189delCCinsG (p.Ser1063Terfs) 273899701 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092342 43092343 GG C 69462 single nucleotide variant NM_007294.3(BRCA1):c.3190A>T (p.Ser1064Cys) 273899702 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244358 41244358 T A 69462 single nucleotide variant NM_007294.3(BRCA1):c.3190A>T (p.Ser1064Cys) 273899702 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092341 43092341 T A 69463 duplication NM_007294.3(BRCA1):c.3193dupG (p.Asp1065Glyfs) 80357511 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41244355 41244355 C CC 69463 duplication NM_007294.3(BRCA1):c.3193dupG (p.Asp1065Glyfs) 80357511 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43092338 43092338 C CC 69464 duplication NM_007294.3(BRCA1):c.3211dupG (p.Glu1071Glyfs) 397509047 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244337 41244337 C CC 69464 duplication NM_007294.3(BRCA1):c.3211dupG (p.Glu1071Glyfs) 397509047 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092320 43092320 C CC 69465 deletion NM_007294.3(BRCA1):c.3214delC (p.Leu1072Terfs) 80357923 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244334 41244334 G - 69465 deletion NM_007294.3(BRCA1):c.3214delC (p.Leu1072Terfs) 80357923 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092317 43092317 G - 69466 deletion NM_007294.3(BRCA1):c.321delT (p.Phe107Leufs) 80357544 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256259 41256259 A - 69466 deletion NM_007294.3(BRCA1):c.321delT (p.Phe107Leufs) 80357544 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104242 43104242 A - 69467 single nucleotide variant NM_007294.3(BRCA1):c.3220A>G (p.Arg1074Gly) 80357263 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244328 41244328 T C 69467 single nucleotide variant NM_007294.3(BRCA1):c.3220A>G (p.Arg1074Gly) 80357263 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092311 43092311 T C 69468 deletion NM_007294.3(BRCA1):c.3226delA (p.Arg1076Glufs) 273899703 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244322 41244322 T - 69468 deletion NM_007294.3(BRCA1):c.3226delA (p.Arg1076Glufs) 273899703 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092305 43092305 T - 69469 single nucleotide variant NM_007294.3(BRCA1):c.3227G>C (p.Arg1076Thr) 80357313 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244321 41244321 C G 69469 single nucleotide variant NM_007294.3(BRCA1):c.3227G>C (p.Arg1076Thr) 80357313 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092304 43092304 C G 69470 single nucleotide variant NM_007294.3(BRCA1):c.3228A>T (p.Arg1076Ser) 397509048 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244320 41244320 T A 69470 single nucleotide variant NM_007294.3(BRCA1):c.3228A>T (p.Arg1076Ser) 397509048 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092303 43092303 T A 69471 single nucleotide variant NM_007294.3(BRCA1):c.3239T>A (p.Leu1080Ter) 80357145 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244309 41244309 A T 69471 single nucleotide variant NM_007294.3(BRCA1):c.3239T>A (p.Leu1080Ter) 80357145 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092292 43092292 A T 69472 duplication NM_007294.3(BRCA1):c.3253dupA (p.Arg1085Lysfs) 80357517 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244295 41244295 T TT 69472 duplication NM_007294.3(BRCA1):c.3253dupA (p.Arg1085Lysfs) 80357517 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092278 43092278 T TT 69473 duplication NM_007294.3(BRCA1):c.3254_3255dupGA (p.Leu1086Aspfs) 80357624 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244293 41244294 TC TCTC 69473 duplication NM_007294.3(BRCA1):c.3254_3255dupGA (p.Leu1086Aspfs) 80357624 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092276 43092277 TC TCTC 69474 duplication NM_007294.3(BRCA1):c.3255dupA (p.Leu1086Ilefs) 80357624 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244293 41244293 T TT 69474 duplication NM_007294.3(BRCA1):c.3255dupA (p.Leu1086Ilefs) 80357624 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092276 43092276 T TT 69475 single nucleotide variant NM_007294.3(BRCA1):c.3257T>A (p.Leu1086Ter) 80357006 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244291 41244291 A T 69475 single nucleotide variant NM_007294.3(BRCA1):c.3257T>A (p.Leu1086Ter) 80357006 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092274 43092274 A T 69476 single nucleotide variant NM_007294.3(BRCA1):c.3257T>C (p.Leu1086Ser) 80357006 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244291 41244291 A G 69476 single nucleotide variant NM_007294.3(BRCA1):c.3257T>C (p.Leu1086Ser) 80357006 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092274 43092274 A G 69477 single nucleotide variant NM_007294.3(BRCA1):c.3257T>G (p.Leu1086Ter) 80357006 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41244291 41244291 A C 69477 single nucleotide variant NM_007294.3(BRCA1):c.3257T>G (p.Leu1086Ter) 80357006 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43092274 43092274 A C 69478 duplication NM_007294.3(BRCA1):c.3257dupT (p.Leu1086Phefs) 80357858 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244291 41244291 A AA 69478 duplication NM_007294.3(BRCA1):c.3257dupT (p.Leu1086Phefs) 80357858 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092274 43092274 A AA 69479 single nucleotide variant NM_007294.3(BRCA1):c.3260G>C (p.Gly1087Ala) 80357172 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244288 41244288 C G 69479 single nucleotide variant NM_007294.3(BRCA1):c.3260G>C (p.Gly1087Ala) 80357172 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092271 43092271 C G 69480 deletion NM_007294.3(BRCA1):c.3262delG (p.Val1088Phefs) 397509049 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244286 41244286 C - 69480 deletion NM_007294.3(BRCA1):c.3262delG (p.Val1088Phefs) 397509049 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092269 43092269 C - 69481 single nucleotide variant NM_007294.3(BRCA1):c.3263T>A (p.Val1088Asp) 80356901 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244285 41244285 A T 69481 single nucleotide variant NM_007294.3(BRCA1):c.3263T>A (p.Val1088Asp) 80356901 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092268 43092268 A T 69482 single nucleotide variant NM_007294.3(BRCA1):c.3268C>T (p.Gln1090Ter) 80357402 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244280 41244280 G A 69482 single nucleotide variant NM_007294.3(BRCA1):c.3268C>T (p.Gln1090Ter) 80357402 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092263 43092263 G A 69483 deletion NM_007294.3(BRCA1):c.3279delC (p.Tyr1094Ilefs) 397509050 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244269 41244269 G - 69483 deletion NM_007294.3(BRCA1):c.3279delC (p.Tyr1094Ilefs) 397509050 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092252 43092252 G - 69484 deletion NM_007294.3(BRCA1):c.3285delA (p.Lys1095Asnfs) 397509051 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244263 41244263 T - 69484 deletion NM_007294.3(BRCA1):c.3285delA (p.Lys1095Asnfs) 397509051 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092246 43092246 T - 69485 single nucleotide variant NM_007294.3(BRCA1):c.3286C>T (p.Gln1096Ter) 80357485 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244262 41244262 G A 69485 single nucleotide variant NM_007294.3(BRCA1):c.3286C>T (p.Gln1096Ter) 80357485 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092245 43092245 G A 69486 deletion NM_007294.3(BRCA1):c.3286delC (p.Gln1096Lysfs) 80357533 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244262 41244262 G - 69486 deletion NM_007294.3(BRCA1):c.3286delC (p.Gln1096Lysfs) 80357533 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092245 43092245 G - 69487 single nucleotide variant NM_007294.3(BRCA1):c.3287A>G (p.Gln1096Arg) 273899704 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244261 41244261 T C 69487 single nucleotide variant NM_007294.3(BRCA1):c.3287A>G (p.Gln1096Arg) 273899704 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092244 43092244 T C 69488 deletion NM_007294.3(BRCA1):c.3288_3289delAA (p.Leu1098Serfs) 80357686 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244259 41244260 TT - 69488 deletion NM_007294.3(BRCA1):c.3288_3289delAA (p.Leu1098Serfs) 80357686 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092242 43092243 TT - 69489 deletion NM_007294.3(BRCA1):c.3289delA (p.Ser1097Valfs) 397509052 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244259 41244259 T - 69489 deletion NM_007294.3(BRCA1):c.3289delA (p.Ser1097Valfs) 397509052 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092242 43092242 T - 69490 deletion NM_007294.3(BRCA1):c.3292_3293delCT (p.Leu1098Serfs) 80357992 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244255 41244256 AG - 69490 deletion NM_007294.3(BRCA1):c.3292_3293delCT (p.Leu1098Serfs) 80357992 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092238 43092239 AG - 69491 deletion NM_007294.3(BRCA1):c.3296delC (p.Pro1099Leufs) 80357815 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244252 41244252 G - 69491 deletion NM_007294.3(BRCA1):c.3296delC (p.Pro1099Leufs) 80357815 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092235 43092235 G - 69492 single nucleotide variant NM_007294.3(BRCA1):c.329A>C (p.Lys110Thr) 397509053 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256251 41256251 T G 69492 single nucleotide variant NM_007294.3(BRCA1):c.329A>C (p.Lys110Thr) 397509053 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104234 43104234 T G 69493 deletion NM_007294.3(BRCA1):c.329_330delAG (p.Lys110Argfs) 80357754 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256250 41256251 CT - 69493 deletion NM_007294.3(BRCA1):c.329_330delAG (p.Lys110Argfs) 80357754 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104233 43104234 CT - 69494 duplication NM_007294.3(BRCA1):c.329dupA (p.Glu111Glyfs) 80357604 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN221809 17 41256251 41256251 T TT 69494 duplication NM_007294.3(BRCA1):c.329dupA (p.Glu111Glyfs) 80357604 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN221809 17 43104234 43104234 T TT 69495 single nucleotide variant NM_007294.3(BRCA1):c.32T>C (p.Val11Ala) 80357017 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41276082 41276082 A G 69495 single nucleotide variant NM_007294.3(BRCA1):c.32T>C (p.Val11Ala) 80357017 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43124065 43124065 A G 69496 insertion NM_007294.3(BRCA1):c.32_33insC (p.Gln12Thrfs) 80357811 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41276081 41276082 - G 69496 insertion NM_007294.3(BRCA1):c.32_33insC (p.Gln12Thrfs) 80357811 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43124064 43124065 - G 69497 single nucleotide variant NM_007294.3(BRCA1):c.3302G>A (p.Ser1101Asn) 41293447 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41244246 41244246 C T 69497 single nucleotide variant NM_007294.3(BRCA1):c.3302G>A (p.Ser1101Asn) 41293447 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43092229 43092229 C T 69498 single nucleotide variant NM_007294.3(BRCA1):c.3305A>G (p.Asn1102Ser) 80356900 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244243 41244243 T C 69498 single nucleotide variant NM_007294.3(BRCA1):c.3305A>G (p.Asn1102Ser) 80356900 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092226 43092226 T C 69499 single nucleotide variant NM_007294.3(BRCA1):c.3308G>T (p.Cys1103Phe) 80357135 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244240 41244240 C A 69499 single nucleotide variant NM_007294.3(BRCA1):c.3308G>T (p.Cys1103Phe) 80357135 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092223 43092223 C A 69500 single nucleotide variant NM_007294.3(BRCA1):c.3309T>A (p.Cys1103Ter) 80357317 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244239 41244239 A T 69500 single nucleotide variant NM_007294.3(BRCA1):c.3309T>A (p.Cys1103Ter) 80357317 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092222 43092222 A T 69501 single nucleotide variant NM_007294.3(BRCA1):c.3313C>A (p.His1105Asn) 80357288 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244235 41244235 G T 69501 single nucleotide variant NM_007294.3(BRCA1):c.3313C>A (p.His1105Asn) 80357288 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092218 43092218 G T 69502 deletion NM_007294.3(BRCA1):c.3314delA (p.His1105Leufs) 397509054 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244234 41244234 T - 69502 deletion NM_007294.3(BRCA1):c.3314delA (p.His1105Leufs) 397509054 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092217 43092217 T - 69503 single nucleotide variant NM_007294.3(BRCA1):c.3319G>T (p.Glu1107Ter) 80357106 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244229 41244229 C A 69503 single nucleotide variant NM_007294.3(BRCA1):c.3319G>T (p.Glu1107Ter) 80357106 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092212 43092212 C A 69504 deletion NM_007294.3(BRCA1):c.3323_3326delTAAA (p.Ile1108Lysfs) 80357763 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244222 41244225 TTTA - 69504 deletion NM_007294.3(BRCA1):c.3323_3326delTAAA (p.Ile1108Lysfs) 80357763 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092205 43092208 TTTA - 69505 deletion NM_007294.3(BRCA1):c.3325_3329delAAAAA (p.Lys1109Alafs) 80357680 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244219 41244223 TTTTT - 69505 deletion NM_007294.3(BRCA1):c.3325_3329delAAAAA (p.Lys1109Alafs) 80357680 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092202 43092206 TTTTT - 69506 deletion NM_007294.3(BRCA1):c.3326_3329delAAAA (p.Lys1109Serfs) 80357575 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244219 41244222 TTTT - 69506 deletion NM_007294.3(BRCA1):c.3326_3329delAAAA (p.Lys1109Serfs) 80357575 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092202 43092205 TTTT - 69507 deletion NM_007294.3(BRCA1):c.3328_3330delAAG (p.Lys1110del) 80358335 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244218 41244220 CTT - 69507 deletion NM_007294.3(BRCA1):c.3328_3330delAAG (p.Lys1110del) 80358335 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092201 43092203 CTT - 69508 deletion NM_007294.3(BRCA1):c.3329_3330delAG (p.Lys1110Thrfs) 80357525 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244218 41244219 CT - 69508 deletion NM_007294.3(BRCA1):c.3329_3330delAG (p.Lys1110Thrfs) 80357525 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092201 43092202 CT - 69509 deletion NM_007294.3(BRCA1):c.3329delA (p.Lys1110Serfs) 397509056 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244219 41244219 T - 69509 deletion NM_007294.3(BRCA1):c.3329delA (p.Lys1110Serfs) 397509056 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092202 43092202 T - 69510 duplication NM_007294.3(BRCA1):c.3329dupA (p.Gln1111Alafs) 80357692 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244219 41244219 T TT 69510 duplication NM_007294.3(BRCA1):c.3329dupA (p.Gln1111Alafs) 80357692 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092202 43092202 T TT 69511 single nucleotide variant NM_007294.3(BRCA1):c.332A>C (p.Glu111Ala) 80357312 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256248 41256248 T G 69511 single nucleotide variant NM_007294.3(BRCA1):c.332A>C (p.Glu111Ala) 80357312 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104231 43104231 T G 69512 single nucleotide variant NM_007294.3(BRCA1):c.3331C>T (p.Gln1111Ter) 80357089 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41244217 41244217 G A 69512 single nucleotide variant NM_007294.3(BRCA1):c.3331C>T (p.Gln1111Ter) 80357089 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43092200 43092200 G A 69513 deletion NM_007294.3(BRCA1):c.3333_3336delAGAA (p.Gln1111Hisfs) 397509057 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244212 41244215 TTCT - 69513 deletion NM_007294.3(BRCA1):c.3333_3336delAGAA (p.Gln1111Hisfs) 397509057 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092195 43092198 TTCT - 69514 deletion NM_007294.3(BRCA1):c.3333delA (p.Glu1112Asnfs) 80357966 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244215 41244215 T - 69514 deletion NM_007294.3(BRCA1):c.3333delA (p.Glu1112Asnfs) 80357966 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092198 43092198 T - 69515 single nucleotide variant NM_007294.3(BRCA1):c.3339T>G (p.Tyr1113Ter) 80357421 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244209 41244209 A C 69515 single nucleotide variant NM_007294.3(BRCA1):c.3339T>G (p.Tyr1113Ter) 80357421 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092192 43092192 A C 69516 single nucleotide variant NM_007294.3(BRCA1):c.3340G>T (p.Glu1114Ter) 80357278 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244208 41244208 C A 69516 single nucleotide variant NM_007294.3(BRCA1):c.3340G>T (p.Glu1114Ter) 80357278 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092191 43092191 C A 69517 deletion NM_007294.3(BRCA1):c.3342_3345delAGAA (p.Glu1115Terfs) 397509058 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244203 41244206 TTCT - 69517 deletion NM_007294.3(BRCA1):c.3342_3345delAGAA (p.Glu1115Terfs) 397509058 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092186 43092189 TTCT - 69518 deletion NM_007294.3(BRCA1):c.3343delG (p.Glu1115Lysfs) 273899705 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244205 41244205 C - 69518 deletion NM_007294.3(BRCA1):c.3343delG (p.Glu1115Lysfs) 273899705 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092188 43092188 C - 69519 deletion NM_007294.3(BRCA1):c.3344_3346delAAG (p.Glu1115del) 80358336 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244202 41244204 CTT - 69519 deletion NM_007294.3(BRCA1):c.3344_3346delAAG (p.Glu1115del) 80358336 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092185 43092187 CTT - 69520 single nucleotide variant NM_007294.3(BRCA1):c.3346G>C (p.Val1116Leu) 55909400 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244202 41244202 C G 69520 single nucleotide variant NM_007294.3(BRCA1):c.3346G>C (p.Val1116Leu) 55909400 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092185 43092185 C G 69521 deletion NM_007294.3(BRCA1):c.3354_3355delGA (p.Gln1118Hisfs) 397509059 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244193 41244194 TC - 69521 deletion NM_007294.3(BRCA1):c.3354_3355delGA (p.Gln1118Hisfs) 397509059 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092176 43092177 TC - 69522 single nucleotide variant NM_007294.3(BRCA1):c.3355A>T (p.Thr1119Ser) 80356949 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244193 41244193 T A 69522 single nucleotide variant NM_007294.3(BRCA1):c.3355A>T (p.Thr1119Ser) 80356949 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092176 43092176 T A 69523 deletion NM_007294.3(BRCA1):c.3359_3360delTT (p.Val1120Glufs) 80357843 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244188 41244189 AA - 69523 deletion NM_007294.3(BRCA1):c.3359_3360delTT (p.Val1120Glufs) 80357843 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092171 43092172 AA - 69524 deletion NM_007294.3(BRCA1):c.3359_3363delTTAAT (p.Val1120Aspfs) 397509060 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244185 41244189 ATTAA - 69524 deletion NM_007294.3(BRCA1):c.3359_3363delTTAAT (p.Val1120Aspfs) 397509060 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092168 43092172 ATTAA - 69525 deletion NM_007294.3(BRCA1):c.3362delA (p.Asn1121Ilefs) 80357865 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244186 41244186 T - 69525 deletion NM_007294.3(BRCA1):c.3362delA (p.Asn1121Ilefs) 80357865 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092169 43092169 T - 69526 deletion NM_007294.3(BRCA1):c.3365_3366delCA (p.Thr1122Argfs) 80357892 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244182 41244183 TG - 69526 deletion NM_007294.3(BRCA1):c.3365_3366delCA (p.Thr1122Argfs) 80357892 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092165 43092166 TG - 69527 single nucleotide variant NM_007294.3(BRCA1):c.3367G>T (p.Asp1123Tyr) 80356867 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244181 41244181 C A 69527 single nucleotide variant NM_007294.3(BRCA1):c.3367G>T (p.Asp1123Tyr) 80356867 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092164 43092164 C A 69528 deletion NM_007294.3(BRCA1):c.3375_3376delTC (p.Pro1126Ilefs) 80357828 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C1140680 17 41244172 41244173 GA - 69528 deletion NM_007294.3(BRCA1):c.3375_3376delTC (p.Pro1126Ilefs) 80357828 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C1140680 17 43092155 43092156 GA - 69529 single nucleotide variant NM_007294.3(BRCA1):c.3377C>T (p.Pro1126Leu) 80356887 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244171 41244171 G A 69529 single nucleotide variant NM_007294.3(BRCA1):c.3377C>T (p.Pro1126Leu) 80356887 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092154 43092154 G A 69530 deletion NM_007294.3(BRCA1):c.3377delC (p.Pro1126Hisfs) 397509061 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244171 41244171 G - 69530 deletion NM_007294.3(BRCA1):c.3377delC (p.Pro1126Hisfs) 397509061 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092154 43092154 G - 69531 deletion NM_007294.3(BRCA1):c.3390delA (p.Asp1131Ilefs) 80357900 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244158 41244158 T - 69531 deletion NM_007294.3(BRCA1):c.3390delA (p.Asp1131Ilefs) 80357900 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092141 43092141 T - 69532 deletion NM_007294.3(BRCA1):c.3397_3398delTT (p.Leu1133Argfs) 80357577 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244150 41244151 AA - 69532 deletion NM_007294.3(BRCA1):c.3397_3398delTT (p.Leu1133Argfs) 80357577 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092133 43092134 AA - 69533 single nucleotide variant NM_007294.3(BRCA1):c.3398T>A (p.Leu1133Ter) 80356971 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41244150 41244150 A T 69533 single nucleotide variant NM_007294.3(BRCA1):c.3398T>A (p.Leu1133Ter) 80356971 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43092133 43092133 A T 69534 single nucleotide variant NM_007294.3(BRCA1):c.3398T>G (p.Leu1133Ter) 80356971 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244150 41244150 A C 69534 single nucleotide variant NM_007294.3(BRCA1):c.3398T>G (p.Leu1133Ter) 80356971 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092133 43092133 A C 69535 single nucleotide variant NM_007294.3(BRCA1):c.3403C>T (p.Gln1135Ter) 80357136 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41244145 41244145 G A 69535 single nucleotide variant NM_007294.3(BRCA1):c.3403C>T (p.Gln1135Ter) 80357136 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43092128 43092128 G A 69536 single nucleotide variant NM_007294.3(BRCA1):c.3407C>G (p.Pro1136Arg) 80357329 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244141 41244141 G C 69536 single nucleotide variant NM_007294.3(BRCA1):c.3407C>G (p.Pro1136Arg) 80357329 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092124 43092124 G C 69537 single nucleotide variant NM_007294.3(BRCA1):c.340T>C (p.Ser114Pro) 397509062 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256240 41256240 A G 69537 single nucleotide variant NM_007294.3(BRCA1):c.340T>C (p.Ser114Pro) 397509062 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104223 43104223 A G 69538 single nucleotide variant NM_007294.3(BRCA1):c.3410T>C (p.Met1137Thr) 80357297 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 41244138 41244138 A G 69538 single nucleotide variant NM_007294.3(BRCA1):c.3410T>C (p.Met1137Thr) 80357297 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 43092121 43092121 A G 69539 deletion NM_007294.3(BRCA1):c.3413delG (p.Gly1138Glufs) 397509063 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244135 41244135 C - 69539 deletion NM_007294.3(BRCA1):c.3413delG (p.Gly1138Glufs) 397509063 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092118 43092118 C - 69540 single nucleotide variant NM_007294.3(BRCA1):c.3416G>T (p.Ser1139Ile) 80357228 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244132 41244132 C A 69540 single nucleotide variant NM_007294.3(BRCA1):c.3416G>T (p.Ser1139Ile) 80357228 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092115 43092115 C A 69541 deletion NM_007294.3(BRCA1):c.3416delG (p.Ser1139Ilefs) 397509064 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244132 41244132 C - 69541 deletion NM_007294.3(BRCA1):c.3416delG (p.Ser1139Ilefs) 397509064 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092115 43092115 C - 69542 deletion NM_007294.3(BRCA1):c.3417delT (p.Ser1139Argfs) 273899706 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244131 41244131 A - 69542 deletion NM_007294.3(BRCA1):c.3417delT (p.Ser1139Argfs) 273899706 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092114 43092114 A - 69543 deletion NM_007294.3(BRCA1):c.3418_3420delAGT (p.Ser1140del) 80358337 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41244128 41244130 ACT - 69543 deletion NM_007294.3(BRCA1):c.3418_3420delAGT (p.Ser1140del) 80358337 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43092111 43092113 ACT - 69544 duplication NM_007294.3(BRCA1):c.3420dupT (p.His1141Serfs) 397509065 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244128 41244128 A AA 69544 duplication NM_007294.3(BRCA1):c.3420dupT (p.His1141Serfs) 397509065 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092111 43092111 A AA 69545 single nucleotide variant NM_007294.3(BRCA1):c.3424G>C (p.Ala1142Pro) 80357101 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244124 41244124 C G 69545 single nucleotide variant NM_007294.3(BRCA1):c.3424G>C (p.Ala1142Pro) 80357101 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092107 43092107 C G 69546 single nucleotide variant NM_007294.3(BRCA1):c.3426A>G (p.Ala1142=) 80356843 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244122 41244122 T C 69546 single nucleotide variant NM_007294.3(BRCA1):c.3426A>G (p.Ala1142=) 80356843 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092105 43092105 T C 69547 single nucleotide variant NM_007294.3(BRCA1):c.3428C>T (p.Ser1143Phe) 80357434 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244120 41244120 G A 69547 single nucleotide variant NM_007294.3(BRCA1):c.3428C>T (p.Ser1143Phe) 80357434 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092103 43092103 G A 69548 indel NM_007294.3(BRCA1):c.3428delCinsTA (p.Ser1143Leufs) 397509066 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244120 41244120 G TA 69548 indel NM_007294.3(BRCA1):c.3428delCinsTA (p.Ser1143Leufs) 397509066 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092103 43092103 G TA 69549 deletion NM_007294.3(BRCA1):c.342_343delTC (p.Pro115Terfs) 80357881 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256237 41256238 GA - 69549 deletion NM_007294.3(BRCA1):c.342_343delTC (p.Pro115Terfs) 80357881 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104220 43104221 GA - 69550 single nucleotide variant NM_007294.3(BRCA1):c.3430C>T (p.Gln1144Ter) 80357369 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244118 41244118 G A 69550 single nucleotide variant NM_007294.3(BRCA1):c.3430C>T (p.Gln1144Ter) 80357369 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092101 43092101 G A 69551 single nucleotide variant NM_007294.3(BRCA1):c.3432G>T (p.Gln1144His) 80356922 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244116 41244116 C A 69551 single nucleotide variant NM_007294.3(BRCA1):c.3432G>T (p.Gln1144His) 80356922 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092099 43092099 C A 69552 deletion NM_007294.3(BRCA1):c.3436_3439delTGTT (p.Cys1146Leufs) 397509067 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 41244109 41244112 AACA - 69552 deletion NM_007294.3(BRCA1):c.3436_3439delTGTT (p.Cys1146Leufs) 397509067 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 43092092 43092095 AACA - 69553 single nucleotide variant NM_007294.3(BRCA1):c.3437G>C (p.Cys1146Ser) 80357247 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244111 41244111 C G 69553 single nucleotide variant NM_007294.3(BRCA1):c.3437G>C (p.Cys1146Ser) 80357247 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092094 43092094 C G 69554 single nucleotide variant NM_007294.3(BRCA1):c.3448C>T (p.Pro1150Ser) 80357272 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41244100 41244100 G A 69554 single nucleotide variant NM_007294.3(BRCA1):c.3448C>T (p.Pro1150Ser) 80357272 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43092083 43092083 G A 69555 deletion NM_007294.3(BRCA1):c.3450delT (p.Asp1151Metfs) 397509068 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244098 41244098 A - 69555 deletion NM_007294.3(BRCA1):c.3450delT (p.Asp1151Metfs) 397509068 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092081 43092081 A - 69556 duplication NM_007294.3(BRCA1):c.3450dupT (p.Asp1151Terfs) 397509069 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244098 41244098 A AA 69556 duplication NM_007294.3(BRCA1):c.3450dupT (p.Asp1151Terfs) 397509069 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092081 43092081 A AA 69557 single nucleotide variant NM_007294.3(BRCA1):c.3454G>A (p.Asp1152Asn) 80357175 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244094 41244094 C T 69557 single nucleotide variant NM_007294.3(BRCA1):c.3454G>A (p.Asp1152Asn) 80357175 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092077 43092077 C T 69558 single nucleotide variant NM_007294.3(BRCA1):c.3463G>C (p.Asp1155His) 80357484 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244085 41244085 C G 69558 single nucleotide variant NM_007294.3(BRCA1):c.3463G>C (p.Asp1155His) 80357484 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092068 43092068 C G 69559 deletion NM_007294.3(BRCA1):c.3468delT (p.Asp1156Glufs) 397509070 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244080 41244080 A - 69559 deletion NM_007294.3(BRCA1):c.3468delT (p.Asp1156Glufs) 397509070 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092063 43092063 A - 69560 single nucleotide variant NM_007294.3(BRCA1):c.346G>A (p.Glu116Lys) 397509071 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256234 41256234 C T 69560 single nucleotide variant NM_007294.3(BRCA1):c.346G>A (p.Glu116Lys) 397509071 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104217 43104217 C T 69561 single nucleotide variant NM_007294.3(BRCA1):c.3472G>T (p.Glu1158Ter) 397509072 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244076 41244076 C A 69561 single nucleotide variant NM_007294.3(BRCA1):c.3472G>T (p.Glu1158Ter) 397509072 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092059 43092059 C A 69562 indel NM_007294.3(BRCA1):c.3477_3479delAAAinsC (p.Lys1160Glyfs) 273899707 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244069 41244071 TTT G 69562 indel NM_007294.3(BRCA1):c.3477_3479delAAAinsC (p.Lys1160Glyfs) 273899707 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092052 43092054 TTT G 69563 deletion NM_007294.3(BRCA1):c.3477_3480delAAAG (p.Ile1159Metfs) 80357781 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41244068 41244071 CTTT - 69563 deletion NM_007294.3(BRCA1):c.3477_3480delAAAG (p.Ile1159Metfs) 80357781 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43092051 43092054 CTTT - 69564 deletion NM_007294.3(BRCA1):c.3479_3488delAGGAAGATAC (p.Lys1160Ilefs) 397509073 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244060 41244069 GTATCTTCCT - 69564 deletion NM_007294.3(BRCA1):c.3479_3488delAGGAAGATAC (p.Lys1160Ilefs) 397509073 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092043 43092052 GTATCTTCCT - 69565 deletion NM_007294.3(BRCA1):c.3481delG (p.Glu1161Lysfs) 397509074 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244067 41244067 C - 69565 deletion NM_007294.3(BRCA1):c.3481delG (p.Glu1161Lysfs) 397509074 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092050 43092050 C - 69566 single nucleotide variant NM_007294.3(BRCA1):c.3488C>T (p.Thr1163Ile) 80356918 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244060 41244060 G A 69566 single nucleotide variant NM_007294.3(BRCA1):c.3488C>T (p.Thr1163Ile) 80356918 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092043 43092043 G A 69567 single nucleotide variant NM_007294.3(BRCA1):c.3491G>T (p.Ser1164Ile) 397509075 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244057 41244057 C A 69567 single nucleotide variant NM_007294.3(BRCA1):c.3491G>T (p.Ser1164Ile) 397509075 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092040 43092040 C A 69568 deletion NM_007294.3(BRCA1):c.3494_3495delTT (p.Phe1165Cysfs) 397509076 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244053 41244054 AA - 69568 deletion NM_007294.3(BRCA1):c.3494_3495delTT (p.Phe1165Cysfs) 397509076 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092036 43092037 AA - 69569 single nucleotide variant NM_007294.3(BRCA1):c.34C>T (p.Gln12Ter) 80357134 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41276080 41276080 G A 69569 single nucleotide variant NM_007294.3(BRCA1):c.34C>T (p.Gln12Ter) 80357134 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43124063 43124063 G A 69570 duplication NM_007294.3(BRCA1):c.3503dupA (p.Asn1168Lysfs) 397509077 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244045 41244045 T TT 69570 duplication NM_007294.3(BRCA1):c.3503dupA (p.Asn1168Lysfs) 397509077 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092028 43092028 T TT 69571 deletion NM_007294.3(BRCA1):c.3505_3509delGACAT (p.Asp1169Terfs) 397509078 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244039 41244043 ATGTC - 69571 deletion NM_007294.3(BRCA1):c.3505_3509delGACAT (p.Asp1169Terfs) 397509078 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092022 43092026 ATGTC - 69572 single nucleotide variant NM_007294.3(BRCA1):c.3508A>T (p.Ile1170Phe) 273899708 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244040 41244040 T A 69572 single nucleotide variant NM_007294.3(BRCA1):c.3508A>T (p.Ile1170Phe) 273899708 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092023 43092023 T A 69573 single nucleotide variant NM_007294.3(BRCA1):c.3514G>T (p.Glu1172Ter) 397509079 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41244034 41244034 C A 69573 single nucleotide variant NM_007294.3(BRCA1):c.3514G>T (p.Glu1172Ter) 397509079 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43092017 43092017 C A 69574 single nucleotide variant NM_007294.3(BRCA1):c.3515A>G (p.Glu1172Gly) 80357206 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244033 41244033 T C 69574 single nucleotide variant NM_007294.3(BRCA1):c.3515A>G (p.Glu1172Gly) 80357206 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092016 43092016 T C 69575 single nucleotide variant NM_007294.3(BRCA1):c.3527T>A (p.Val1176Asp) 80357027 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244021 41244021 A T 69575 single nucleotide variant NM_007294.3(BRCA1):c.3527T>A (p.Val1176Asp) 80357027 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092004 43092004 A T 69576 deletion NM_007294.3(BRCA1):c.3531delT (p.Phe1177Leufs) 80357621 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244017 41244017 A - 69576 deletion NM_007294.3(BRCA1):c.3531delT (p.Phe1177Leufs) 80357621 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092000 43092000 A - 69577 deletion NM_007294.3(BRCA1):c.3540_3541delCG (p.Val1181Profs) 397509080 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244007 41244008 CG - 69577 deletion NM_007294.3(BRCA1):c.3540_3541delCG (p.Val1181Profs) 397509080 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091990 43091991 CG - 69578 single nucleotide variant NM_007294.3(BRCA1):c.3541G>A (p.Val1181Ile) 56336919 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 41244007 41244007 C T 69578 single nucleotide variant NM_007294.3(BRCA1):c.3541G>A (p.Val1181Ile) 56336919 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 43091990 43091990 C T 69579 single nucleotide variant NM_007294.3(BRCA1):c.3542T>C (p.Val1181Ala) 80357032 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244006 41244006 A G 69579 single nucleotide variant NM_007294.3(BRCA1):c.3542T>C (p.Val1181Ala) 80357032 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091989 43091989 A G 69580 single nucleotide variant NM_007294.3(BRCA1):c.3544C>T (p.Gln1182Ter) 80357296 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244004 41244004 G A 69580 single nucleotide variant NM_007294.3(BRCA1):c.3544C>T (p.Gln1182Ter) 80357296 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091987 43091987 G A 69581 deletion NM_007294.3(BRCA1):c.3549_3550delAG (p.Gly1184Argfs) 730882057 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243998 41243999 CT - 69581 deletion NM_007294.3(BRCA1):c.3549_3550delAG (p.Gly1184Argfs) 730882057 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091981 43091982 CT - 69582 indel NM_007294.3(BRCA1):c.3549_3550delAGinsT (p.Lys1183Asnfs) 273899709 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243998 41243999 CT A 69582 indel NM_007294.3(BRCA1):c.3549_3550delAGinsT (p.Lys1183Asnfs) 273899709 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091981 43091982 CT A 69583 single nucleotide variant NM_007294.3(BRCA1):c.3553G>T (p.Glu1185Ter) 397509081 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 41243995 41243995 C A 69583 single nucleotide variant NM_007294.3(BRCA1):c.3553G>T (p.Glu1185Ter) 397509081 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 43091978 43091978 C A 69584 single nucleotide variant NM_007294.3(BRCA1):c.3560G>A (p.Ser1187Asn) 80356975 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41243988 41243988 C T 69584 single nucleotide variant NM_007294.3(BRCA1):c.3560G>A (p.Ser1187Asn) 80356975 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43091971 43091971 C T 69585 deletion NM_007294.3(BRCA1):c.3569_3570delCT (p.Pro1190Glnfs) 80357845 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243978 41243979 AG - 69585 deletion NM_007294.3(BRCA1):c.3569_3570delCT (p.Pro1190Glnfs) 80357845 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091961 43091962 AG - 69586 insertion NM_007294.3(BRCA1):c.3575_3576insAA (p.Phe1193Ilefs) 397509082 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243972 41243973 - TT 69586 insertion NM_007294.3(BRCA1):c.3575_3576insAA (p.Phe1193Ilefs) 397509082 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091955 43091956 - TT 69587 duplication NM_007294.3(BRCA1):c.3578dupT (p.Thr1194Hisfs) 397509083 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243970 41243970 A AA 69587 duplication NM_007294.3(BRCA1):c.3578dupT (p.Thr1194Hisfs) 397509083 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091953 43091953 A AA 69588 deletion NM_007294.3(BRCA1):c.3580delA (p.Thr1194Profs) 80357663 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243968 41243968 T - 69588 deletion NM_007294.3(BRCA1):c.3580delA (p.Thr1194Profs) 80357663 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091951 43091951 T - 69589 single nucleotide variant NM_007294.3(BRCA1):c.3581C>T (p.Thr1194Ile) 80357290 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41243967 41243967 G A 69589 single nucleotide variant NM_007294.3(BRCA1):c.3581C>T (p.Thr1194Ile) 80357290 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43091950 43091950 G A 69590 deletion NM_007294.3(BRCA1):c.3583delC (p.His1195Ilefs) 273900710 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243965 41243965 G - 69590 deletion NM_007294.3(BRCA1):c.3583delC (p.His1195Ilefs) 273900710 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091948 43091948 G - 69591 duplication NM_007294.3(BRCA1):c.3586dupA (p.Thr1196Asnfs) 80357531 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243962 41243962 T TT 69591 duplication NM_007294.3(BRCA1):c.3586dupA (p.Thr1196Asnfs) 80357531 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091945 43091945 T TT 69592 single nucleotide variant NM_007294.3(BRCA1):c.3587C>A (p.Thr1196Lys) 80356944 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41243961 41243961 G T 69592 single nucleotide variant NM_007294.3(BRCA1):c.3587C>A (p.Thr1196Lys) 80356944 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43091944 43091944 G T 69593 single nucleotide variant NM_007294.3(BRCA1):c.3587C>T (p.Thr1196Ile) 80356944 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41243961 41243961 G A 69593 single nucleotide variant NM_007294.3(BRCA1):c.3587C>T (p.Thr1196Ile) 80356944 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43091944 43091944 G A 69594 single nucleotide variant NM_007294.3(BRCA1):c.3593T>A (p.Leu1198Ter) 397509085 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243955 41243955 A T 69594 single nucleotide variant NM_007294.3(BRCA1):c.3593T>A (p.Leu1198Ter) 397509085 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091938 43091938 A T 69595 deletion NM_007294.3(BRCA1):c.3596_3602delCTCAGGG (p.Ala1199Valfs) 397509086 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243946 41243952 CCCTGAG - 69595 deletion NM_007294.3(BRCA1):c.3596_3602delCTCAGGG (p.Ala1199Valfs) 397509086 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091929 43091935 CCCTGAG - 69596 single nucleotide variant NM_007294.3(BRCA1):c.3598C>T (p.Gln1200Ter) 62625307 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41243950 41243950 G A 69596 single nucleotide variant NM_007294.3(BRCA1):c.3598C>T (p.Gln1200Ter) 62625307 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43091933 43091933 G A 69597 single nucleotide variant NM_007294.3(BRCA1):c.3600G>C (p.Gln1200His) 56214134 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41243948 41243948 C G 69597 single nucleotide variant NM_007294.3(BRCA1):c.3600G>C (p.Gln1200His) 56214134 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43091931 43091931 C G 69598 single nucleotide variant NM_007294.3(BRCA1):c.3600G>T (p.Gln1200His) 56214134 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41243948 41243948 C A 69598 single nucleotide variant NM_007294.3(BRCA1):c.3600G>T (p.Gln1200His) 56214134 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43091931 43091931 C A 69599 single nucleotide variant NM_007294.3(BRCA1):c.3601G>A (p.Gly1201Ser) 55725337 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41243947 41243947 C T 69599 single nucleotide variant NM_007294.3(BRCA1):c.3601G>A (p.Gly1201Ser) 55725337 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43091930 43091930 C T 69600 single nucleotide variant NM_007294.3(BRCA1):c.3603T>G (p.Gly1201=) 80356830 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243945 41243945 A C 69600 single nucleotide variant NM_007294.3(BRCA1):c.3603T>G (p.Gly1201=) 80356830 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091928 43091928 A C 69601 single nucleotide variant NM_007294.3(BRCA1):c.3607C>G (p.Arg1203Gly) 62625308 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243941 41243941 G C 69601 single nucleotide variant NM_007294.3(BRCA1):c.3607C>G (p.Arg1203Gly) 62625308 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091924 43091924 G C 69602 single nucleotide variant NM_007294.3(BRCA1):c.3608G>A (p.Arg1203Gln) 55930959 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41243940 41243940 C T 69602 single nucleotide variant NM_007294.3(BRCA1):c.3608G>A (p.Arg1203Gln) 55930959 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43091923 43091923 C T 69603 single nucleotide variant NM_007294.3(BRCA1):c.3613G>A (p.Gly1205Arg) 80357294 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243935 41243935 C T 69603 single nucleotide variant NM_007294.3(BRCA1):c.3613G>A (p.Gly1205Arg) 80357294 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091918 43091918 C T 69604 single nucleotide variant NM_007294.3(BRCA1):c.3613G>C (p.Gly1205Arg) 80357294 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243935 41243935 C G 69604 single nucleotide variant NM_007294.3(BRCA1):c.3613G>C (p.Gly1205Arg) 80357294 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091918 43091918 C G 69605 single nucleotide variant NM_007294.3(BRCA1):c.3619A>T (p.Lys1207Ter) 80357455 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243929 41243929 T A 69605 single nucleotide variant NM_007294.3(BRCA1):c.3619A>T (p.Lys1207Ter) 80357455 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091912 43091912 T A 69606 indel NM_007294.3(BRCA1):c.3621_3626delGAAATTinsAA (p.Leu1209Serfs) 397509087 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243922 41243927 AATTTC TT 69606 indel NM_007294.3(BRCA1):c.3621_3626delGAAATTinsAA (p.Leu1209Serfs) 397509087 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091905 43091910 AATTTC TT 69607 single nucleotide variant NM_007294.3(BRCA1):c.3622A>G (p.Lys1208Glu) 80357152 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243926 41243926 T C 69607 single nucleotide variant NM_007294.3(BRCA1):c.3622A>G (p.Lys1208Glu) 80357152 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091909 43091909 T C 69608 duplication NM_007294.3(BRCA1):c.3624dupA (p.Leu1209Ilefs) 80357512 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243924 41243924 T TT 69608 duplication NM_007294.3(BRCA1):c.3624dupA (p.Leu1209Ilefs) 80357512 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091907 43091907 T TT 69609 single nucleotide variant NM_007294.3(BRCA1):c.3625T>G (p.Leu1209Val) 273900711 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41243923 41243923 A C 69609 single nucleotide variant NM_007294.3(BRCA1):c.3625T>G (p.Leu1209Val) 273900711 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43091906 43091906 A C 69610 deletion NM_007294.3(BRCA1):c.3626delT (p.Leu1209Terfs) 80357571 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243922 41243922 A - 69610 deletion NM_007294.3(BRCA1):c.3626delT (p.Leu1209Terfs) 80357571 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091905 43091905 A - 69611 duplication NM_007294.3(BRCA1):c.3626dupT (p.Leu1209Phefs) 397509089 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243922 41243922 A AA 69611 duplication NM_007294.3(BRCA1):c.3626dupT (p.Leu1209Phefs) 397509089 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091905 43091905 A AA 69613 deletion NM_007294.3(BRCA1):c.3628delG (p.Glu1210Serfs) 397509090 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243920 41243920 C - 69613 deletion NM_007294.3(BRCA1):c.3628delG (p.Glu1210Serfs) 397509090 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091903 43091903 C - 69614 deletion NM_007294.3(BRCA1):c.3629_3630delAG (p.Glu1210Valfs) 80357589 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243918 41243919 CT - 69614 deletion NM_007294.3(BRCA1):c.3629_3630delAG (p.Glu1210Valfs) 80357589 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091901 43091902 CT - 69615 single nucleotide variant NM_007294.3(BRCA1):c.3640G>A (p.Glu1214Lys) 80356923 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41243908 41243908 C T 69615 single nucleotide variant NM_007294.3(BRCA1):c.3640G>A (p.Glu1214Lys) 80356923 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43091891 43091891 C T 69616 single nucleotide variant NM_007294.3(BRCA1):c.3640G>T (p.Glu1214Ter) 80356923 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243908 41243908 C A 69616 single nucleotide variant NM_007294.3(BRCA1):c.3640G>T (p.Glu1214Ter) 80356923 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091891 43091891 C A 69617 deletion NM_007294.3(BRCA1):c.3642_3643delGA (p.Asn1215Leufs) 80357805 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41243905 41243906 TC - 69617 deletion NM_007294.3(BRCA1):c.3642_3643delGA (p.Asn1215Leufs) 80357805 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43091888 43091889 TC - 69618 single nucleotide variant NM_007294.3(BRCA1):c.3647T>G (p.Leu1216Ter) 397509091 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243901 41243901 A C 69618 single nucleotide variant NM_007294.3(BRCA1):c.3647T>G (p.Leu1216Ter) 397509091 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091884 43091884 A C 69620 single nucleotide variant NM_007294.3(BRCA1):c.3649T>C (p.Ser1217Pro) 273900712 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41243899 41243899 A G 69620 single nucleotide variant NM_007294.3(BRCA1):c.3649T>C (p.Ser1217Pro) 273900712 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43091882 43091882 A G 69621 duplication NM_007294.3(BRCA1):c.3649dupT (p.Ser1217Phefs) 80357831 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243899 41243899 A AA 69621 duplication NM_007294.3(BRCA1):c.3649dupT (p.Ser1217Phefs) 80357831 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091882 43091882 A AA 69622 single nucleotide variant NM_007294.3(BRCA1):c.3652A>T (p.Ser1218Cys) 80356894 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243896 41243896 T A 69622 single nucleotide variant NM_007294.3(BRCA1):c.3652A>T (p.Ser1218Cys) 80356894 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091879 43091879 T A 69623 single nucleotide variant NM_007294.3(BRCA1):c.3655G>A (p.Glu1219Lys) 80356921 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41243893 41243893 C T 69623 single nucleotide variant NM_007294.3(BRCA1):c.3655G>A (p.Glu1219Lys) 80356921 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43091876 43091876 C T 69624 single nucleotide variant NM_007294.3(BRCA1):c.3661G>T (p.Glu1221Ter) 80357310 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41243887 41243887 C A 69624 single nucleotide variant NM_007294.3(BRCA1):c.3661G>T (p.Glu1221Ter) 80357310 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43091870 43091870 C A 69625 single nucleotide variant NM_007294.3(BRCA1):c.3662A>C (p.Glu1221Ala) 273900713 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41243886 41243886 T G 69625 single nucleotide variant NM_007294.3(BRCA1):c.3662A>C (p.Glu1221Ala) 273900713 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43091869 43091869 T G 69626 single nucleotide variant NM_007294.3(BRCA1):c.3664G>T (p.Glu1222Ter) 80357356 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41243884 41243884 C A 69626 single nucleotide variant NM_007294.3(BRCA1):c.3664G>T (p.Glu1222Ter) 80357356 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43091867 43091867 C A 69627 duplication NM_007294.3(BRCA1):c.3668_3671dupTTCC (p.Cys1225Serfs) 80357797 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41243877 41243880 GGAA GGAAGGAA 69627 duplication NM_007294.3(BRCA1):c.3668_3671dupTTCC (p.Cys1225Serfs) 80357797 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43091860 43091863 GGAA GGAAGGAA 69628 deletion NM_007294.3(BRCA1):c.3676_3679delTTCC (p.Phe1226Asnfs) 80357671 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243869 41243872 GGAA - 69628 deletion NM_007294.3(BRCA1):c.3676_3679delTTCC (p.Phe1226Asnfs) 80357671 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091852 43091855 GGAA - 69629 duplication NM_007294.3(BRCA1):c.3693dupT (p.Gly1232Trpfs) 397509092 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243855 41243855 A AA 69629 duplication NM_007294.3(BRCA1):c.3693dupT (p.Gly1232Trpfs) 397509092 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091838 43091838 A AA 69630 deletion NM_007294.3(BRCA1):c.3695_3698delGTAA (p.Gly1232Glufs) 397509093 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243850 41243853 TTAC - 69630 deletion NM_007294.3(BRCA1):c.3695_3698delGTAA (p.Gly1232Glufs) 397509093 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091833 43091836 TTAC - 69631 single nucleotide variant NM_007294.3(BRCA1):c.3698A>G (p.Lys1233Arg) 80357141 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243850 41243850 T C 69631 single nucleotide variant NM_007294.3(BRCA1):c.3698A>G (p.Lys1233Arg) 80357141 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091833 43091833 T C 69632 deletion NM_007294.3(BRCA1):c.3699delA (p.Val1234Terfs) 80357873 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243849 41243849 T - 69632 deletion NM_007294.3(BRCA1):c.3699delA (p.Val1234Terfs) 80357873 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091832 43091832 T - 69633 deletion NM_007294.3(BRCA1):c.3704_3707delACAA (p.Asn1235Ilefs) 397509094 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243841 41243844 TTGT - 69633 deletion NM_007294.3(BRCA1):c.3704_3707delACAA (p.Asn1235Ilefs) 397509094 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091824 43091827 TTGT - 69634 deletion NM_007294.3(BRCA1):c.3704delA (p.Asn1235Thrfs) 397509095 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243844 41243844 T - 69634 deletion NM_007294.3(BRCA1):c.3704delA (p.Asn1235Thrfs) 397509095 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091827 43091827 T - 69635 deletion NM_007294.3(BRCA1):c.3706_3707delAA (p.Asn1236Tyrfs) 80357666 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243841 41243842 TT - 69635 deletion NM_007294.3(BRCA1):c.3706_3707delAA (p.Asn1236Tyrfs) 80357666 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091824 43091825 TT - 69636 deletion NM_007294.3(BRCA1):c.3706_3713delAATATACC (p.Asn1236Phefs) 80357552 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243835 41243842 GGTATATT - 69636 deletion NM_007294.3(BRCA1):c.3706_3713delAATATACC (p.Asn1236Phefs) 80357552 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091818 43091825 GGTATATT - 69637 single nucleotide variant NM_007294.3(BRCA1):c.3708T>G (p.Asn1236Lys) 28897687 MedGen:CN221562;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41243840 41243840 A C 69637 single nucleotide variant NM_007294.3(BRCA1):c.3708T>G (p.Asn1236Lys) 28897687 MedGen:CN221562;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43091823 43091823 A C 69638 single nucleotide variant NM_007294.3(BRCA1):c.370A>G (p.Ile124Val) 80357448 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41256210 41256210 T C 69638 single nucleotide variant NM_007294.3(BRCA1):c.370A>G (p.Ile124Val) 80357448 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43104193 43104193 T C 69639 deletion NM_007294.3(BRCA1):c.3710delT (p.Ile1237Asnfs) 80357564 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41243838 41243838 A - 69639 deletion NM_007294.3(BRCA1):c.3710delT (p.Ile1237Asnfs) 80357564 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43091821 43091821 A - 69640 single nucleotide variant NM_007294.3(BRCA1):c.3711A>G (p.Ile1237Met) 80357388 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41243837 41243837 T C 69640 single nucleotide variant NM_007294.3(BRCA1):c.3711A>G (p.Ile1237Met) 80357388 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43091820 43091820 T C 69641 single nucleotide variant NM_007294.3(BRCA1):c.3713C>G (p.Pro1238Arg) 28897688 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243835 41243835 G C 69641 single nucleotide variant NM_007294.3(BRCA1):c.3713C>G (p.Pro1238Arg) 28897688 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091818 43091818 G C 69642 indel NM_007294.3(BRCA1):c.3715_3717delTCTinsC (p.Ser1239Profs) 273900714 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243831 41243833 AGA G 69642 indel NM_007294.3(BRCA1):c.3715_3717delTCTinsC (p.Ser1239Profs) 273900714 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091814 43091816 AGA G 69643 deletion NM_007294.3(BRCA1):c.3715delT (p.Ser1239Leufs) 397509096 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243833 41243833 A - 69643 deletion NM_007294.3(BRCA1):c.3715delT (p.Ser1239Leufs) 397509096 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091816 43091816 A - 69644 duplication NM_007294.3(BRCA1):c.3716dupC (p.Gln1240Serfs) 397509097 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243832 41243832 G GG 69644 duplication NM_007294.3(BRCA1):c.3716dupC (p.Gln1240Serfs) 397509097 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091815 43091815 G GG 69645 single nucleotide variant NM_007294.3(BRCA1):c.3718C>T (p.Gln1240Ter) 80356903 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41243830 41243830 G A 69645 single nucleotide variant NM_007294.3(BRCA1):c.3718C>T (p.Gln1240Ter) 80356903 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43091813 43091813 G A 69646 single nucleotide variant NM_007294.3(BRCA1):c.3722C>A (p.Ser1241Tyr) 80357143 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41243826 41243826 G T 69646 single nucleotide variant NM_007294.3(BRCA1):c.3722C>A (p.Ser1241Tyr) 80357143 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43091809 43091809 G T 69647 single nucleotide variant NM_007294.3(BRCA1):c.3722C>G (p.Ser1241Cys) 80357143 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243826 41243826 G C 69647 single nucleotide variant NM_007294.3(BRCA1):c.3722C>G (p.Ser1241Cys) 80357143 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091809 43091809 G C 69648 deletion NM_007294.3(BRCA1):c.3722_3740del19 (p.Ser1241Leufs) 80359882 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243808 41243826 na na 69648 deletion NM_007294.3(BRCA1):c.3722_3740del19 (p.Ser1241Leufs) 80359882 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091791 43091809 na na 69649 single nucleotide variant NM_007294.3(BRCA1):c.3724A>G (p.Thr1242Ala) 80357037 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41243824 41243824 T C 69649 single nucleotide variant NM_007294.3(BRCA1):c.3724A>G (p.Thr1242Ala) 80357037 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43091807 43091807 T C 69650 single nucleotide variant NM_007294.3(BRCA1):c.372C>A (p.Ile124=) 273900715 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256208 41256208 G T 69650 single nucleotide variant NM_007294.3(BRCA1):c.372C>A (p.Ile124=) 273900715 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104191 43104191 G T 69651 deletion NM_007294.3(BRCA1):c.3736delA (p.Thr1246Profs) 80357578 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243812 41243812 T - 69651 deletion NM_007294.3(BRCA1):c.3736delA (p.Thr1246Profs) 80357578 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091795 43091795 T - 69652 single nucleotide variant NM_007294.3(BRCA1):c.3739G>A (p.Val1247Ile) 80357191 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41243809 41243809 C T 69652 single nucleotide variant NM_007294.3(BRCA1):c.3739G>A (p.Val1247Ile) 80357191 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43091792 43091792 C T 69653 single nucleotide variant NM_007294.3(BRCA1):c.3746C>G (p.Thr1249Ser) 80357099 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243802 41243802 G C 69653 single nucleotide variant NM_007294.3(BRCA1):c.3746C>G (p.Thr1249Ser) 80357099 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091785 43091785 G C 69654 single nucleotide variant NM_007294.3(BRCA1):c.3748G>A (p.Glu1250Lys) 28897686 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41243800 41243800 C T 69654 single nucleotide variant NM_007294.3(BRCA1):c.3748G>A (p.Glu1250Lys) 28897686 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43091783 43091783 C T 69655 single nucleotide variant NM_007294.3(BRCA1):c.3753T>A (p.Cys1251Ter) 397509098 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243795 41243795 A T 69655 single nucleotide variant NM_007294.3(BRCA1):c.3753T>A (p.Cys1251Ter) 397509098 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091778 43091778 A T 69656 deletion NM_007294.3(BRCA1):c.3756_3757delGT (p.Ser1253Terfs) 397509099 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243791 41243792 AC - 69656 deletion NM_007294.3(BRCA1):c.3756_3757delGT (p.Ser1253Terfs) 397509099 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091774 43091775 AC - 69657 single nucleotide variant NM_007294.3(BRCA1):c.3758C>A (p.Ser1253Tyr) 397509100 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243790 41243790 G T 69657 single nucleotide variant NM_007294.3(BRCA1):c.3758C>A (p.Ser1253Tyr) 397509100 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091773 43091773 G T 69658 single nucleotide variant NM_007294.3(BRCA1):c.3759T>G (p.Ser1253=) 80356852 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243789 41243789 A C 69658 single nucleotide variant NM_007294.3(BRCA1):c.3759T>G (p.Ser1253=) 80356852 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091772 43091772 A C 69659 duplication NM_007294.3(BRCA1):c.3759dupT (p.Lys1254Terfs) 80357687 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41243789 41243789 A AA 69659 duplication NM_007294.3(BRCA1):c.3759dupT (p.Lys1254Terfs) 80357687 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43091772 43091772 A AA 69660 insertion NM_007294.3(BRCA1):c.375_376insT (p.Gln126Serfs) 397509101 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256204 41256205 - A 69660 insertion NM_007294.3(BRCA1):c.375_376insT (p.Gln126Serfs) 397509101 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104187 43104188 - A 69661 single nucleotide variant NM_007294.3(BRCA1):c.3760A>G (p.Lys1254Glu) 80357362 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41243788 41243788 T C 69661 single nucleotide variant NM_007294.3(BRCA1):c.3760A>G (p.Lys1254Glu) 80357362 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43091771 43091771 T C 69662 insertion NM_007294.3(BRCA1):c.3760_3761insT (p.Lys1254Ilefs) 80357986 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243787 41243788 - A 69662 insertion NM_007294.3(BRCA1):c.3760_3761insT (p.Lys1254Ilefs) 80357986 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091770 43091771 - A 69663 deletion NM_007294.3(BRCA1):c.3762_3763delGA (p.Asn1255Hisfs) 80357645 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243785 41243786 TC - 69663 deletion NM_007294.3(BRCA1):c.3762_3763delGA (p.Asn1255Hisfs) 80357645 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091768 43091769 TC - 69664 deletion NM_007294.3(BRCA1):c.3763_3764delAA (p.Asn1255Hisfs) 397509103 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243784 41243785 TT - 69664 deletion NM_007294.3(BRCA1):c.3763_3764delAA (p.Asn1255Hisfs) 397509103 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091767 43091768 TT - 69666 deletion NM_007294.3(BRCA1):c.3771_3778delGGAGAATT (p.Glu1257Aspfs) 397509104 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243770 41243777 AATTCTCC - 69666 deletion NM_007294.3(BRCA1):c.3771_3778delGGAGAATT (p.Glu1257Aspfs) 397509104 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091753 43091760 AATTCTCC - 69667 single nucleotide variant NM_007294.3(BRCA1):c.3772G>T (p.Glu1258Ter) 397509105 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243776 41243776 C A 69667 single nucleotide variant NM_007294.3(BRCA1):c.3772G>T (p.Glu1258Ter) 397509105 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091759 43091759 C A 69668 deletion NM_007294.3(BRCA1):c.3774_3775delGA (p.Asn1259Phefs) 397509106 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243773 41243774 TC - 69668 deletion NM_007294.3(BRCA1):c.3774_3775delGA (p.Asn1259Phefs) 397509106 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091756 43091757 TC - 69669 deletion NM_007294.3(BRCA1):c.3779delT (p.Leu1260Tyrfs) 80357798 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243769 41243769 A - 69669 deletion NM_007294.3(BRCA1):c.3779delT (p.Leu1260Tyrfs) 80357798 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091752 43091752 A - 69670 single nucleotide variant NM_007294.3(BRCA1):c.3782T>G (p.Leu1261Ter) 397507219 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243766 41243766 A C 69670 single nucleotide variant NM_007294.3(BRCA1):c.3782T>G (p.Leu1261Ter) 397507219 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091749 43091749 A C 69671 deletion NM_007294.3(BRCA1):c.3782delT (p.Leu1261Tyrfs) 80357545 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243766 41243766 A - 69671 deletion NM_007294.3(BRCA1):c.3782delT (p.Leu1261Tyrfs) 80357545 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091749 43091749 A - 69672 single nucleotide variant NM_007294.3(BRCA1):c.3783A>G (p.Leu1261=) 80356831 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41243765 41243765 T C 69672 single nucleotide variant NM_007294.3(BRCA1):c.3783A>G (p.Leu1261=) 80356831 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43091748 43091748 T C 69673 single nucleotide variant NM_007294.3(BRCA1):c.3785C>A (p.Ser1262Ter) 80357269 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243763 41243763 G T 69673 single nucleotide variant NM_007294.3(BRCA1):c.3785C>A (p.Ser1262Ter) 80357269 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091746 43091746 G T 69674 single nucleotide variant NM_007294.3(BRCA1):c.3785C>T (p.Ser1262Leu) 80357269 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243763 41243763 G A 69674 single nucleotide variant NM_007294.3(BRCA1):c.3785C>T (p.Ser1262Leu) 80357269 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091746 43091746 G A 69675 deletion NM_007294.3(BRCA1):c.3794delA (p.Asn1265Ilefs) 80357767 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243754 41243754 T - 69675 deletion NM_007294.3(BRCA1):c.3794delA (p.Asn1265Ilefs) 80357767 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091737 43091737 T - 69676 single nucleotide variant NM_007294.3(BRCA1):c.3797G>C (p.Ser1266Thr) 80357160 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41243751 41243751 C G 69676 single nucleotide variant NM_007294.3(BRCA1):c.3797G>C (p.Ser1266Thr) 80357160 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43091734 43091734 C G 69677 deletion NM_007294.3(BRCA1):c.37_40delAATG (p.Asn13Serfs) 80357530 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41276074 41276077 CATT - 69677 deletion NM_007294.3(BRCA1):c.37_40delAATG (p.Asn13Serfs) 80357530 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43124057 43124060 CATT - 69678 single nucleotide variant NM_007294.3(BRCA1):c.3803A>G (p.Asn1268Ser) 273900716 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243745 41243745 T C 69678 single nucleotide variant NM_007294.3(BRCA1):c.3803A>G (p.Asn1268Ser) 273900716 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091728 43091728 T C 69679 single nucleotide variant NM_007294.3(BRCA1):c.380G>A (p.Ser127Asn) 80357189 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41256200 41256200 C T 69679 single nucleotide variant NM_007294.3(BRCA1):c.380G>A (p.Ser127Asn) 80357189 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43104183 43104183 C T 69680 duplication NM_007294.3(BRCA1):c.3813dupT (p.Asn1272Terfs) 397509108 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243735 41243735 A AA 69680 duplication NM_007294.3(BRCA1):c.3813dupT (p.Asn1272Terfs) 397509108 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091718 43091718 A AA 69681 insertion NM_007294.3(BRCA1):c.3814_3815insT (p.Asn1272Ilefs) 397509109 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243733 41243734 - A 69681 insertion NM_007294.3(BRCA1):c.3814_3815insT (p.Asn1272Ilefs) 397509109 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091716 43091717 - A 69682 single nucleotide variant NM_007294.3(BRCA1):c.3817C>T (p.Gln1273Ter) 80357208 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41243731 41243731 G A 69682 single nucleotide variant NM_007294.3(BRCA1):c.3817C>T (p.Gln1273Ter) 80357208 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43091714 43091714 G A 69683 deletion NM_007294.3(BRCA1):c.3820delG (p.Val1274Terfs) 397509110 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243728 41243728 C - 69683 deletion NM_007294.3(BRCA1):c.3820delG (p.Val1274Terfs) 397509110 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091711 43091711 C - 69684 duplication NM_007294.3(BRCA1):c.3820dupG (p.Val1274Glyfs) 80357616 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243728 41243728 C CC 69684 duplication NM_007294.3(BRCA1):c.3820dupG (p.Val1274Glyfs) 80357616 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091711 43091711 C CC 69685 insertion NM_007294.3(BRCA1):c.3822_3823insT (p.Ile1275Tyrfs) 397509111 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243725 41243726 - A 69685 insertion NM_007294.3(BRCA1):c.3822_3823insT (p.Ile1275Tyrfs) 397509111 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091708 43091709 - A 69686 single nucleotide variant NM_007294.3(BRCA1):c.3829G>C (p.Ala1277Pro) 397509112 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243719 41243719 C G 69686 single nucleotide variant NM_007294.3(BRCA1):c.3829G>C (p.Ala1277Pro) 397509112 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091702 43091702 C G 69687 single nucleotide variant NM_007294.3(BRCA1):c.3835G>A (p.Ala1279Thr) 80357036 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41243713 41243713 C T 69687 single nucleotide variant NM_007294.3(BRCA1):c.3835G>A (p.Ala1279Thr) 80357036 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43091696 43091696 C T 69688 indel NM_007294.3(BRCA1):c.3839_3843delCTCAGinsAGGC (p.Ser1280Terfs) 273900717 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C3280492,OMIM:614327,Orphanet:ORPHA289539 17 41243705 41243709 CTGAG GCCT 69688 indel NM_007294.3(BRCA1):c.3839_3843delCTCAGinsAGGC (p.Ser1280Terfs) 273900717 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C3280492,OMIM:614327,Orphanet:ORPHA289539 17 43091688 43091692 CTGAG GCCT 69689 single nucleotide variant NM_007294.3(BRCA1):c.3841C>T (p.Gln1281Ter) 80356866 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41243707 41243707 G A 69689 single nucleotide variant NM_007294.3(BRCA1):c.3841C>T (p.Gln1281Ter) 80356866 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43091690 43091690 G A 69690 deletion NM_007294.3(BRCA1):c.3841_3842delCA (p.Gln1281Glyfs) 80357584 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243706 41243707 TG - 69690 deletion NM_007294.3(BRCA1):c.3841_3842delCA (p.Gln1281Glyfs) 80357584 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091689 43091690 TG - 69691 deletion NM_007294.3(BRCA1):c.3841_3843delCAG (p.Gln1281del) 80358338 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243705 41243707 CTG - 69691 deletion NM_007294.3(BRCA1):c.3841_3843delCAG (p.Gln1281del) 80358338 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091688 43091690 CTG - 69692 single nucleotide variant NM_007294.3(BRCA1):c.3842A>C (p.Gln1281Pro) 80357483 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243706 41243706 T G 69692 single nucleotide variant NM_007294.3(BRCA1):c.3842A>C (p.Gln1281Pro) 80357483 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091689 43091689 T G 69693 deletion NM_007294.3(BRCA1):c.3844delG (p.Glu1282Asnfs) 397509113 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243704 41243704 C - 69693 deletion NM_007294.3(BRCA1):c.3844delG (p.Glu1282Asnfs) 397509113 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091687 43091687 C - 69694 single nucleotide variant NM_007294.3(BRCA1):c.3845A>T (p.Glu1282Val) 80357217 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41243703 41243703 T A 69694 single nucleotide variant NM_007294.3(BRCA1):c.3845A>T (p.Glu1282Val) 80357217 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43091686 43091686 T A 69695 single nucleotide variant NM_007294.3(BRCA1):c.3848A>G (p.His1283Arg) 80357047 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41243700 41243700 T C 69695 single nucleotide variant NM_007294.3(BRCA1):c.3848A>G (p.His1283Arg) 80357047 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43091683 43091683 T C 69696 single nucleotide variant NM_007294.3(BRCA1):c.3851A>G (p.His1284Arg) 80357499 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243697 41243697 T C 69696 single nucleotide variant NM_007294.3(BRCA1):c.3851A>G (p.His1284Arg) 80357499 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091680 43091680 T C 69697 deletion NM_007294.3(BRCA1):c.3856delA (p.Ser1286Valfs) 80357855 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243692 41243692 T - 69697 deletion NM_007294.3(BRCA1):c.3856delA (p.Ser1286Valfs) 80357855 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091675 43091675 T - 69698 deletion NM_007294.3(BRCA1):c.3862delG (p.Glu1288Lysfs) 273900718 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243686 41243686 C - 69698 deletion NM_007294.3(BRCA1):c.3862delG (p.Glu1288Lysfs) 273900718 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091669 43091669 C - 69699 deletion NM_007294.3(BRCA1):c.3869_3870delAA (p.Lys1290Metfs) 80357918 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41243678 41243679 TT - 69699 deletion NM_007294.3(BRCA1):c.3869_3870delAA (p.Lys1290Metfs) 80357918 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43091661 43091662 TT - 69700 insertion NM_007294.3(BRCA1):c.3871_3872insC (p.Cys1291Serfs) 397509114 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243676 41243677 - G 69700 insertion NM_007294.3(BRCA1):c.3871_3872insC (p.Cys1291Serfs) 397509114 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091659 43091660 - G 69701 deletion NM_007294.3(BRCA1):c.3876delT (p.Ala1293Leufs) 397509115 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243672 41243672 A - 69701 deletion NM_007294.3(BRCA1):c.3876delT (p.Ala1293Leufs) 397509115 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091655 43091655 A - 69702 single nucleotide variant NM_007294.3(BRCA1):c.3878C>A (p.Ala1293Asp) 80357213 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243670 41243670 G T 69702 single nucleotide variant NM_007294.3(BRCA1):c.3878C>A (p.Ala1293Asp) 80357213 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091653 43091653 G T 69703 single nucleotide variant NM_007294.3(BRCA1):c.3878C>T (p.Ala1293Val) 80357213 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41243670 41243670 G A 69703 single nucleotide variant NM_007294.3(BRCA1):c.3878C>T (p.Ala1293Val) 80357213 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43091653 43091653 G A 69704 deletion NM_007294.3(BRCA1):c.3880_3883delAGCT (p.Ser1294Cysfs) 397509116 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243665 41243668 AGCT - 69704 deletion NM_007294.3(BRCA1):c.3880_3883delAGCT (p.Ser1294Cysfs) 397509116 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091648 43091651 AGCT - 69705 deletion NM_007294.3(BRCA1):c.3891_3893delTTC (p.Ser1298del) 80358339 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 41243655 41243657 GAA - 69705 deletion NM_007294.3(BRCA1):c.3891_3893delTTC (p.Ser1298del) 80358339 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 43091638 43091640 GAA - 69706 single nucleotide variant NM_007294.3(BRCA1):c.3893C>A (p.Ser1298Ter) 80357440 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41243655 41243655 G T 69706 single nucleotide variant NM_007294.3(BRCA1):c.3893C>A (p.Ser1298Ter) 80357440 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43091638 43091638 G T 69707 single nucleotide variant NM_007294.3(BRCA1):c.3895C>T (p.Gln1299Ter) 80357038 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41243653 41243653 G A 69707 single nucleotide variant NM_007294.3(BRCA1):c.3895C>T (p.Gln1299Ter) 80357038 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43091636 43091636 G A 69708 single nucleotide variant NM_007294.3(BRCA1):c.389A>T (p.Tyr130Phe) 56055578 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 41256191 41256191 T A 69708 single nucleotide variant NM_007294.3(BRCA1):c.389A>T (p.Tyr130Phe) 56055578 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 43104174 43104174 T A 69709 insertion NM_007294.3:c.38_39delTAinsGGG -1 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 na -1 -1 na na 69710 deletion NM_007294.3(BRCA1):c.3901_3902delAG (p.Ser1301Terfs) 80357646 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243646 41243647 CT - 69856 duplication NM_007294.3(BRCA1):c.4391dupC (p.Ile1465Tyrfs) 397509169 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43076581 43076581 G GG 69710 deletion NM_007294.3(BRCA1):c.3901_3902delAG (p.Ser1301Terfs) 80357646 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091629 43091630 CT - 69711 single nucleotide variant NM_007294.3(BRCA1):c.3903T>A (p.Ser1301Arg) 273900719 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243645 41243645 A T 69711 single nucleotide variant NM_007294.3(BRCA1):c.3903T>A (p.Ser1301Arg) 273900719 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091628 43091628 A T 69712 single nucleotide variant NM_007294.3(BRCA1):c.3904G>T (p.Glu1302Ter) 80357461 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243644 41243644 C A 69712 single nucleotide variant NM_007294.3(BRCA1):c.3904G>T (p.Glu1302Ter) 80357461 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091627 43091627 C A 69713 single nucleotide variant NM_007294.3(BRCA1):c.390C>A (p.Tyr130Ter) 80356888 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41256190 41256190 G T 69713 single nucleotide variant NM_007294.3(BRCA1):c.390C>A (p.Tyr130Ter) 80356888 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43104173 43104173 G T 69714 deletion NM_007294.3(BRCA1):c.3910delG (p.Glu1304Lysfs) 397509117 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243638 41243638 C - 69714 deletion NM_007294.3(BRCA1):c.3910delG (p.Glu1304Lysfs) 397509117 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091621 43091621 C - 69715 deletion NM_007294.3(BRCA1):c.3914delA (p.Asp1305Alafs) 397509118 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243634 41243634 T - 69715 deletion NM_007294.3(BRCA1):c.3914delA (p.Asp1305Alafs) 397509118 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091617 43091617 T - 69716 deletion NM_007294.3(BRCA1):c.3916_3917delTT (p.Leu1306Aspfs) 80357678 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41243631 41243632 AA - 69716 deletion NM_007294.3(BRCA1):c.3916_3917delTT (p.Leu1306Aspfs) 80357678 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43091614 43091615 AA - 69717 single nucleotide variant NM_007294.3(BRCA1):c.391A>T (p.Arg131Ter) 80357207 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256189 41256189 T A 69717 single nucleotide variant NM_007294.3(BRCA1):c.391A>T (p.Arg131Ter) 80357207 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104172 43104172 T A 69718 deletion NM_007294.3(BRCA1):c.3926delA (p.Asn1309Ilefs) 397509119 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243622 41243622 T - 69718 deletion NM_007294.3(BRCA1):c.3926delA (p.Asn1309Ilefs) 397509119 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091605 43091605 T - 69719 deletion NM_007294.3(BRCA1):c.3927_3930delTACA (p.Asn1309Lysfs) 397509120 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243618 41243621 TGTA - 69719 deletion NM_007294.3(BRCA1):c.3927_3930delTACA (p.Asn1309Lysfs) 397509120 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091601 43091604 TGTA - 69720 single nucleotide variant NM_007294.3(BRCA1):c.3929C>A (p.Thr1310Lys) 80357257 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41243619 41243619 G T 69720 single nucleotide variant NM_007294.3(BRCA1):c.3929C>A (p.Thr1310Lys) 80357257 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43091602 43091602 G T 69721 deletion NM_007294.3(BRCA1):c.3931_3934delAACA (p.Asn1311Profs) 80357864 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243614 41243617 TGTT - 69721 deletion NM_007294.3(BRCA1):c.3931_3934delAACA (p.Asn1311Profs) 80357864 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091597 43091600 TGTT - 69722 deletion NM_007294.3(BRCA1):c.3932delA (p.Asn1311Thrfs) 80357504 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243616 41243616 T - 69722 deletion NM_007294.3(BRCA1):c.3932delA (p.Asn1311Thrfs) 80357504 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091599 43091599 T - 69723 single nucleotide variant NM_007294.3(BRCA1):c.3940G>A (p.Asp1314Asn) 80356954 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243608 41243608 C T 69723 single nucleotide variant NM_007294.3(BRCA1):c.3940G>A (p.Asp1314Asn) 80356954 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091591 43091591 C T 69724 single nucleotide variant NM_007294.3(BRCA1):c.3944C>A (p.Pro1315His) 80357500 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243604 41243604 G T 69724 single nucleotide variant NM_007294.3(BRCA1):c.3944C>A (p.Pro1315His) 80357500 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091587 43091587 G T 69725 single nucleotide variant NM_007294.3(BRCA1):c.3952A>G (p.Ile1318Val) 397509121 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243596 41243596 T C 69725 single nucleotide variant NM_007294.3(BRCA1):c.3952A>G (p.Ile1318Val) 397509121 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091579 43091579 T C 69726 single nucleotide variant NM_007294.3(BRCA1):c.3964A>T (p.Lys1322Ter) 80357343 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243584 41243584 T A 69726 single nucleotide variant NM_007294.3(BRCA1):c.3964A>T (p.Lys1322Ter) 80357343 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091567 43091567 T A 69727 single nucleotide variant NM_007294.3(BRCA1):c.3965A>T (p.Lys1322Ile) 80357042 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243583 41243583 T A 69727 single nucleotide variant NM_007294.3(BRCA1):c.3965A>T (p.Lys1322Ile) 80357042 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091566 43091566 T A 69728 deletion NM_007294.3(BRCA1):c.3966delA (p.Lys1322Asnfs) 80357979 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243582 41243582 T - 69728 deletion NM_007294.3(BRCA1):c.3966delA (p.Lys1322Asnfs) 80357979 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091565 43091565 T - 69729 single nucleotide variant NM_007294.3(BRCA1):c.3967C>T (p.Gln1323Ter) 80357262 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243581 41243581 G A 69729 single nucleotide variant NM_007294.3(BRCA1):c.3967C>T (p.Gln1323Ter) 80357262 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091564 43091564 G A 69730 deletion NM_007294.3(BRCA1):c.3967delC (p.Gln1323Lysfs) 397509122 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41243581 41243581 G - 69730 deletion NM_007294.3(BRCA1):c.3967delC (p.Gln1323Lysfs) 397509122 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43091564 43091564 G - 69731 single nucleotide variant NM_007294.3(BRCA1):c.396C>A (p.Asn132Lys) 80357413 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41256184 41256184 G T 69892 deletion NM_007294.3(BRCA1):c.4534_4535delAG (p.Ser1512Leufs) 397509183 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43074471 43074472 CT - 70010 single nucleotide variant NM_007294.3(BRCA1):c.4986+5G>T 397509211 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43070923 43070923 C A 69731 single nucleotide variant NM_007294.3(BRCA1):c.396C>A (p.Asn132Lys) 80357413 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43104167 43104167 G T 69732 deletion NM_007294.3(BRCA1):c.3972delG (p.Met1324Ilefs) 80357987 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243576 41243576 C - 69732 deletion NM_007294.3(BRCA1):c.3972delG (p.Met1324Ilefs) 80357987 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091559 43091559 C - 69733 deletion NM_007294.3(BRCA1):c.3973delA (p.Arg1325Glyfs) 80357904 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243575 41243575 T - 69733 deletion NM_007294.3(BRCA1):c.3973delA (p.Arg1325Glyfs) 80357904 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091558 43091558 T - 69734 single nucleotide variant NM_007294.3(BRCA1):c.397C>T (p.Arg133Cys) 80357457 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 41256183 41256183 G A 69734 single nucleotide variant NM_007294.3(BRCA1):c.397C>T (p.Arg133Cys) 80357457 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 43104166 43104166 G A 69735 deletion NM_007294.3(BRCA1):c.3981delG (p.Gln1327Hisfs) 397509123 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243567 41243567 C - 69735 deletion NM_007294.3(BRCA1):c.3981delG (p.Gln1327Hisfs) 397509123 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091550 43091550 C - 69736 duplication NM_007294.3(BRCA1):c.3982dupT (p.Ser1328Phefs) 397509124 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243566 41243566 A AA 69736 duplication NM_007294.3(BRCA1):c.3982dupT (p.Ser1328Phefs) 397509124 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091549 43091549 A AA 69737 deletion NM_007294.3(BRCA1):c.3999delT (p.Gly1334Valfs) 397509125 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243549 41243549 A - 69737 deletion NM_007294.3(BRCA1):c.3999delT (p.Gly1334Valfs) 397509125 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091532 43091532 A - 69738 deletion NM_007294.3(BRCA1):c.399_400delTG (p.Ala134Glnfs) 80357568 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256180 41256181 CA - 69738 deletion NM_007294.3(BRCA1):c.399_400delTG (p.Ala134Glnfs) 80357568 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104163 43104164 CA - 69739 single nucleotide variant NM_007294.3(BRCA1):c.3G>T (p.Met1Ile) 80357475 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41276111 41276111 C A 69739 single nucleotide variant NM_007294.3(BRCA1):c.3G>T (p.Met1Ile) 80357475 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43124094 43124094 C A 69740 deletion NM_007294.3(BRCA1):c.4001delG (p.Gly1334Valfs) 397509127 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243547 41243547 C - 69740 deletion NM_007294.3(BRCA1):c.4001delG (p.Gly1334Valfs) 397509127 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091530 43091530 C - 69741 deletion NM_007294.3(BRCA1):c.4002_4005delTCTG (p.Leu1335Valfs) 397509128 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243543 41243546 CAGA - 69741 deletion NM_007294.3(BRCA1):c.4002_4005delTCTG (p.Leu1335Valfs) 397509128 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091526 43091529 CAGA - 69742 single nucleotide variant NM_007294.3(BRCA1):c.4011C>G (p.Asp1337Glu) 80356886 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243537 41243537 G C 69742 single nucleotide variant NM_007294.3(BRCA1):c.4011C>G (p.Asp1337Glu) 80356886 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091520 43091520 G C 69743 single nucleotide variant NM_007294.3(BRCA1):c.4026A>G (p.Ser1342=) 80356828 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243522 41243522 T C 69743 single nucleotide variant NM_007294.3(BRCA1):c.4026A>G (p.Ser1342=) 80356828 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091505 43091505 T C 69744 single nucleotide variant NM_007294.3(BRCA1):c.4031A>G (p.Asp1344Gly) 55639854 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41243517 41243517 T C 69744 single nucleotide variant NM_007294.3(BRCA1):c.4031A>G (p.Asp1344Gly) 55639854 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43091500 43091500 T C 69745 deletion NM_007294.3(BRCA1):c.4032_4034delTGA (p.Asp1344del) 397509129 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243514 41243516 TCA - 69745 deletion NM_007294.3(BRCA1):c.4032_4034delTGA (p.Asp1344del) 397509129 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091497 43091499 TCA - 69746 deletion NM_007294.3(BRCA1):c.4036_4038delGAA (p.Glu1346del) 80358340 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243510 41243512 TTC - 69746 deletion NM_007294.3(BRCA1):c.4036_4038delGAA (p.Glu1346del) 80358340 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091493 43091495 TTC - 69748 single nucleotide variant NM_007294.3(BRCA1):c.4040G>A (p.Arg1347Lys) 80357210 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243508 41243508 C T 69748 single nucleotide variant NM_007294.3(BRCA1):c.4040G>A (p.Arg1347Lys) 80357210 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091491 43091491 C T 69749 deletion NM_007294.3(BRCA1):c.4041_4042delAG (p.Gly1348Asnfs) 80357727 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41243506 41243507 CT - 69749 deletion NM_007294.3(BRCA1):c.4041_4042delAG (p.Gly1348Asnfs) 80357727 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43091489 43091490 CT - 69750 deletion NM_007294.3(BRCA1):c.4043delG (p.Gly1348Glufs) 397509130 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243505 41243505 C - 69750 deletion NM_007294.3(BRCA1):c.4043delG (p.Gly1348Glufs) 397509130 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091488 43091488 C - 69751 single nucleotide variant NM_007294.3(BRCA1):c.4045A>C (p.Thr1349Pro) 80357231 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243503 41243503 T G 69751 single nucleotide variant NM_007294.3(BRCA1):c.4045A>C (p.Thr1349Pro) 80357231 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091486 43091486 T G 69752 single nucleotide variant NM_007294.3(BRCA1):c.4046C>T (p.Thr1349Met) 80357345 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41243502 41243502 G A 69752 single nucleotide variant NM_007294.3(BRCA1):c.4046C>T (p.Thr1349Met) 80357345 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43091485 43091485 G A 69753 duplication NM_007294.3(BRCA1):c.4049dupG (p.Glu1352Glyfs) 397509131 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243499 41243499 C CC 69753 duplication NM_007294.3(BRCA1):c.4049dupG (p.Glu1352Glyfs) 397509131 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091482 43091482 C CC 69754 single nucleotide variant NM_007294.3(BRCA1):c.4052T>A (p.Leu1351Ter) 397509132 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243496 41243496 A T 69754 single nucleotide variant NM_007294.3(BRCA1):c.4052T>A (p.Leu1351Ter) 397509132 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091479 43091479 A T 69755 duplication NM_007294.3(BRCA1):c.4052dupT (p.Leu1351Phefs) 80357779 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243496 41243496 A AA 69755 duplication NM_007294.3(BRCA1):c.4052dupT (p.Leu1351Phefs) 80357779 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091479 43091479 A AA 69756 single nucleotide variant NM_007294.3(BRCA1):c.4054G>A (p.Glu1352Lys) 80357202 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41243494 41243494 C T 69756 single nucleotide variant NM_007294.3(BRCA1):c.4054G>A (p.Glu1352Lys) 80357202 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43091477 43091477 C T 69757 single nucleotide variant NM_007294.3(BRCA1):c.4057G>T (p.Glu1353Ter) 80357178 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243491 41243491 C A 69757 single nucleotide variant NM_007294.3(BRCA1):c.4057G>T (p.Glu1353Ter) 80357178 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091474 43091474 C A 69758 deletion NM_007294.3(BRCA1):c.4057_4061delGAAAA (p.Glu1353Terfs) 397509133 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243487 41243491 TTTTC - 69758 deletion NM_007294.3(BRCA1):c.4057_4061delGAAAA (p.Glu1353Terfs) 397509133 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091470 43091474 TTTTC - 69759 deletion NM_007294.3(BRCA1):c.4062_4068delTAATCAA (p.Asn1354Lysfs) 397509134 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243480 41243486 TTGATTA - 69759 deletion NM_007294.3(BRCA1):c.4062_4068delTAATCAA (p.Asn1354Lysfs) 397509134 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091463 43091469 TTGATTA - 69760 deletion NM_007294.3(BRCA1):c.4063_4065delAAT (p.Asn1355del) 80358341 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41243483 41243485 ATT - 69760 deletion NM_007294.3(BRCA1):c.4063_4065delAAT (p.Asn1355del) 80358341 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43091466 43091468 ATT - 69761 deletion NM_007294.3(BRCA1):c.4066_4069delCAAG (p.Gln1356Lysfs) 397509135 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243479 41243482 CTTG - 69761 deletion NM_007294.3(BRCA1):c.4066_4069delCAAG (p.Gln1356Lysfs) 397509135 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091462 43091465 CTTG - 69762 duplication NM_007294.3(BRCA1):c.406dupA (p.Arg136Lysfs) 80357709 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41256174 41256174 T TT 69762 duplication NM_007294.3(BRCA1):c.406dupA (p.Arg136Lysfs) 80357709 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43104157 43104157 T TT 69763 single nucleotide variant NM_007294.3(BRCA1):c.4072G>A (p.Glu1358Lys) 397509136 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243476 41243476 C T 69763 single nucleotide variant NM_007294.3(BRCA1):c.4072G>A (p.Glu1358Lys) 397509136 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091459 43091459 C T 69764 single nucleotide variant NM_007294.3(BRCA1):c.4074G>A (p.Glu1358=) 80356846 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243474 41243474 C T 69764 single nucleotide variant NM_007294.3(BRCA1):c.4074G>A (p.Glu1358=) 80356846 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091457 43091457 C T 69765 single nucleotide variant NM_007294.3(BRCA1):c.4075C>T (p.Gln1359Ter) 80357456 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243473 41243473 G A 69765 single nucleotide variant NM_007294.3(BRCA1):c.4075C>T (p.Gln1359Ter) 80357456 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091456 43091456 G A 69766 single nucleotide variant NM_007294.3(BRCA1):c.4081A>C (p.Met1361Leu) 80357218 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41243467 41243467 T G 69766 single nucleotide variant NM_007294.3(BRCA1):c.4081A>C (p.Met1361Leu) 80357218 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43091450 43091450 T G 69767 deletion NM_007294.3(BRCA1):c.4085delA (p.Asp1362Valfs) 80357737 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243463 41243463 T - 69767 deletion NM_007294.3(BRCA1):c.4085delA (p.Asp1362Valfs) 80357737 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091446 43091446 T - 69768 deletion NM_007294.3(BRCA1):c.4092_4093delCT (p.Leu1365Argfs) 397509137 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243455 41243456 AG - 69768 deletion NM_007294.3(BRCA1):c.4092_4093delCT (p.Leu1365Argfs) 397509137 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091438 43091439 AG - 69769 deletion NM_007294.3(BRCA1):c.4094delT (p.Leu1365Terfs) 397509138 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243454 41243454 A - 69769 deletion NM_007294.3(BRCA1):c.4094delT (p.Leu1365Terfs) 397509138 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091437 43091437 A - 69770 single nucleotide variant NM_007294.3(BRCA1):c.4097-2A>G 80358019 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243051 41243051 T C 69770 single nucleotide variant NM_007294.3(BRCA1):c.4097-2A>G 80358019 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091034 43091034 T C 69771 duplication NM_007294.3(BRCA1):c.4107_4110dupATCT (p.Gly1371Ilefs) 397509139 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243036 41243039 AGAT AGATAGAT 69771 duplication NM_007294.3(BRCA1):c.4107_4110dupATCT (p.Gly1371Ilefs) 397509139 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091019 43091022 AGAT AGATAGAT 69772 single nucleotide variant NM_007294.3(BRCA1):c.4115G>A (p.Cys1372Tyr) 55848034 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41243031 41243031 C T 69772 single nucleotide variant NM_007294.3(BRCA1):c.4115G>A (p.Cys1372Tyr) 55848034 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43091014 43091014 C T 69773 single nucleotide variant NM_007294.3(BRCA1):c.4116T>A (p.Cys1372Ter) 397509140 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243030 41243030 A T 69773 single nucleotide variant NM_007294.3(BRCA1):c.4116T>A (p.Cys1372Ter) 397509140 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091013 43091013 A T 69774 deletion NM_007294.3(BRCA1):c.4122_4123delTG (p.Ser1374Argfs) 80357691 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243023 41243024 CA - 69774 deletion NM_007294.3(BRCA1):c.4122_4123delTG (p.Ser1374Argfs) 80357691 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091006 43091007 CA - 69775 single nucleotide variant NM_007294.3(BRCA1):c.4123G>T (p.Glu1375Ter) 80357397 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243023 41243023 C A 69775 single nucleotide variant NM_007294.3(BRCA1):c.4123G>T (p.Glu1375Ter) 80357397 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091006 43091006 C A 69776 deletion NM_007294.3(BRCA1):c.412_418delCTACAGA (p.Leu138Valfs) 80357816 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256162 41256168 TCTGTAG - 69776 deletion NM_007294.3(BRCA1):c.412_418delCTACAGA (p.Leu138Valfs) 80357816 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104145 43104151 TCTGTAG - 69777 single nucleotide variant NM_007294.3(BRCA1):c.4131C>A (p.Ser1377Arg) 80356871 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243015 41243015 G T 69777 single nucleotide variant NM_007294.3(BRCA1):c.4131C>A (p.Ser1377Arg) 80356871 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43090998 43090998 G T 69778 single nucleotide variant NM_007294.3(BRCA1):c.4132G>A (p.Val1378Ile) 28897690 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41243014 41243014 C T 69778 single nucleotide variant NM_007294.3(BRCA1):c.4132G>A (p.Val1378Ile) 28897690 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43090997 43090997 C T 69779 deletion NM_007294.3(BRCA1):c.4136_4137delCT (p.Ser1379Terfs) 397509141 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243009 41243010 AG - 69779 deletion NM_007294.3(BRCA1):c.4136_4137delCT (p.Ser1379Terfs) 397509141 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43090992 43090993 AG - 69780 deletion NM_007294.3(BRCA1):c.4158_4162delCTCTC (p.Ser1387Glufs) 397509142 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41242984 41242988 GAGAG - 69780 deletion NM_007294.3(BRCA1):c.4158_4162delCTCTC (p.Ser1387Glufs) 397509142 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43090967 43090971 GAGAG - 69781 single nucleotide variant NM_007294.3(BRCA1):c.415C>T (p.Gln139Ter) 80357372 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256165 41256165 G A 69781 single nucleotide variant NM_007294.3(BRCA1):c.415C>T (p.Gln139Ter) 80357372 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104148 43104148 G A 69782 deletion NM_007294.3(BRCA1):c.4161_4162delTC (p.Gln1388Glufs) 80357565 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41242984 41242985 GA - 69782 deletion NM_007294.3(BRCA1):c.4161_4162delTC (p.Gln1388Glufs) 80357565 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43090967 43090968 GA - 69783 deletion NM_007294.3(BRCA1):c.4163_4166delAGAG (p.Gln1388Leufs) 80357532 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41242980 41242983 CTCT - 69783 deletion NM_007294.3(BRCA1):c.4163_4166delAGAG (p.Gln1388Leufs) 80357532 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43090963 43090966 CTCT - 69784 deletion NM_007294.3(BRCA1):c.4165_4166delAG (p.Ser1389Terfs) 80357572 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41242980 41242981 CT - 69784 deletion NM_007294.3(BRCA1):c.4165_4166delAG (p.Ser1389Terfs) 80357572 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43090963 43090964 CT - 69785 duplication NM_007294.3(BRCA1):c.4165_4166dupAG (p.Ser1389Argfs) 397509143 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41242980 41242981 CT CTCT 69785 duplication NM_007294.3(BRCA1):c.4165_4166dupAG (p.Ser1389Argfs) 397509143 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43090963 43090964 CT CTCT 69786 single nucleotide variant NM_007294.3(BRCA1):c.4166G>A (p.Ser1389Asn) 78951648 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41242980 41242980 C T 69786 single nucleotide variant NM_007294.3(BRCA1):c.4166G>A (p.Ser1389Asn) 78951648 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43090963 43090963 C T 69787 deletion NM_007294.3(BRCA1):c.4167_4168delTG (p.Ser1389Argfs) 397509144 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41242978 41242979 CA - 69787 deletion NM_007294.3(BRCA1):c.4167_4168delTG (p.Ser1389Argfs) 397509144 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43090961 43090962 CA - 69788 deletion NM_007294.3(BRCA1):c.4167_4170delTGAC (p.Ser1389Argfs) 80357538 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41242976 41242979 GTCA - 69788 deletion NM_007294.3(BRCA1):c.4167_4170delTGAC (p.Ser1389Argfs) 80357538 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43090959 43090962 GTCA - 69789 deletion NM_007294.3(BRCA1):c.4167delT (p.Ser1389Argfs) 397509145 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41242979 41242979 A - 69789 deletion NM_007294.3(BRCA1):c.4167delT (p.Ser1389Argfs) 397509145 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43090962 43090962 A - 69790 single nucleotide variant NM_007294.3(BRCA1):c.4172T>C (p.Ile1391Thr) 397509146 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41242974 41242974 A G 69790 single nucleotide variant NM_007294.3(BRCA1):c.4172T>C (p.Ile1391Thr) 397509146 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43090957 43090957 A G 69791 duplication NM_007294.3(BRCA1):c.4182_4183dupTC (p.Gln1395Leufs) 80357742 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41242963 41242964 GA GAGA 69791 duplication NM_007294.3(BRCA1):c.4182_4183dupTC (p.Gln1395Leufs) 80357742 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43090946 43090947 GA GAGA 69792 single nucleotide variant NM_007294.3(BRCA1):c.4183C>T (p.Gln1395Ter) 80357260 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41242963 41242963 G A 69792 single nucleotide variant NM_007294.3(BRCA1):c.4183C>T (p.Gln1395Ter) 80357260 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43090946 43090946 G A 69793 deletion NM_007294.3(BRCA1):c.4183_4185delCAG (p.Gln1396del) 397509147 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41242961 41242963 CTG - 69793 deletion NM_007294.3(BRCA1):c.4183_4185delCAG (p.Gln1396del) 397509147 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43090944 43090946 CTG - 69794 single nucleotide variant NM_007294.3(BRCA1):c.4184A>G (p.Gln1395Arg) 80356972 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41242962 41242962 T C 69794 single nucleotide variant NM_007294.3(BRCA1):c.4184A>G (p.Gln1395Arg) 80356972 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43090945 43090945 T C 69795 single nucleotide variant NM_007294.3(BRCA1):c.4185+1G>T 80358076 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41242960 41242960 C A 69795 single nucleotide variant NM_007294.3(BRCA1):c.4185+1G>T 80358076 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43090943 43090943 C A 69797 single nucleotide variant NM_007294.3(BRCA1):c.4185+3A>G 397509148 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 41242958 41242958 T C 69797 single nucleotide variant NM_007294.3(BRCA1):c.4185+3A>G 397509148 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 43090941 43090941 T C 69798 single nucleotide variant NM_007294.3(BRCA1):c.4185G>A (p.Gln1395=) 80356857 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41242961 41242961 C T 69798 single nucleotide variant NM_007294.3(BRCA1):c.4185G>A (p.Gln1395=) 80356857 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43090944 43090944 C T 69799 deletion NM_007294.3(BRCA1):c.4185_4185+3delGGTA 397509149 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41242958 41242961 TACC - 69799 deletion NM_007294.3(BRCA1):c.4185_4185+3delGGTA 397509149 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43090941 43090944 TACC - 69800 single nucleotide variant NM_007294.3(BRCA1):c.4186-10G>A 80358172 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 41234602 41234602 C T 69800 single nucleotide variant NM_007294.3(BRCA1):c.4186-10G>A 80358172 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 43082585 43082585 C T 69801 single nucleotide variant NM_007294.3(BRCA1):c.4186-1G>A 397509150 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234593 41234593 C T 69801 single nucleotide variant NM_007294.3(BRCA1):c.4186-1G>A 397509150 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082576 43082576 C T 69802 single nucleotide variant NM_007294.3(BRCA1):c.4186C>T (p.Gln1396Ter) 80357011 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234592 41234592 G A 69802 single nucleotide variant NM_007294.3(BRCA1):c.4186C>T (p.Gln1396Ter) 80357011 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082575 43082575 G A 69803 deletion NM_007294.3(BRCA1):c.4195_4196delAC (p.Thr1399Hisfs) 80357649 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234582 41234583 GT - 69803 deletion NM_007294.3(BRCA1):c.4195_4196delAC (p.Thr1399Hisfs) 80357649 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082565 43082566 GT - 69804 single nucleotide variant NM_007294.3(BRCA1):c.4198A>G (p.Met1400Val) 80357306 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234580 41234580 T C 69804 single nucleotide variant NM_007294.3(BRCA1):c.4198A>G (p.Met1400Val) 80357306 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082563 43082563 T C 69805 single nucleotide variant NM_007294.3(BRCA1):c.4199T>C (p.Met1400Thr) 80357473 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234579 41234579 A G 69805 single nucleotide variant NM_007294.3(BRCA1):c.4199T>C (p.Met1400Thr) 80357473 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082562 43082562 A G 69806 single nucleotide variant NM_007294.3(BRCA1):c.4201C>T (p.Gln1401Ter) 397509151 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234577 41234577 G A 69806 single nucleotide variant NM_007294.3(BRCA1):c.4201C>T (p.Gln1401Ter) 397509151 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082560 43082560 G A 69807 single nucleotide variant NM_007294.3(BRCA1):c.4204C>T (p.His1402Tyr) 80357365 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41234574 41234574 G A 69807 single nucleotide variant NM_007294.3(BRCA1):c.4204C>T (p.His1402Tyr) 80357365 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43082557 43082557 G A 69808 single nucleotide variant NM_007294.3(BRCA1):c.4205A>G (p.His1402Arg) 80356882 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41234573 41234573 T C 69808 single nucleotide variant NM_007294.3(BRCA1):c.4205A>G (p.His1402Arg) 80356882 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43082556 43082556 T C 69809 deletion NM_007294.3(BRCA1):c.4210delC (p.Leu1404Terfs) 80357765 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234568 41234568 G - 69809 deletion NM_007294.3(BRCA1):c.4210delC (p.Leu1404Terfs) 80357765 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082551 43082551 G - 69810 single nucleotide variant NM_007294.3(BRCA1):c.4211T>C (p.Leu1404Pro) 80356916 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234567 41234567 A G 69810 single nucleotide variant NM_007294.3(BRCA1):c.4211T>C (p.Leu1404Pro) 80356916 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082550 43082550 A G 69811 single nucleotide variant NM_007294.3(BRCA1):c.4220T>C (p.Leu1407Pro) 80357492 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234558 41234558 A G 69811 single nucleotide variant NM_007294.3(BRCA1):c.4220T>C (p.Leu1407Pro) 80357492 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082541 43082541 A G 69812 single nucleotide variant NM_007294.3(BRCA1):c.4222C>T (p.Gln1408Ter) 80356989 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41234556 41234556 G A 69812 single nucleotide variant NM_007294.3(BRCA1):c.4222C>T (p.Gln1408Ter) 80356989 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43082539 43082539 G A 69813 single nucleotide variant NM_007294.3(BRCA1):c.4228G>T (p.Glu1410Ter) 397509152 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234550 41234550 C A 69813 single nucleotide variant NM_007294.3(BRCA1):c.4228G>T (p.Glu1410Ter) 397509152 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082533 43082533 C A 69814 single nucleotide variant NM_007294.3(BRCA1):c.4232T>C (p.Met1411Thr) 273900729 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234546 41234546 A G 69814 single nucleotide variant NM_007294.3(BRCA1):c.4232T>C (p.Met1411Thr) 273900729 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082529 43082529 A G 69815 single nucleotide variant NM_007294.3(BRCA1):c.4237G>T (p.Glu1413Ter) 397509153 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234541 41234541 C A 69815 single nucleotide variant NM_007294.3(BRCA1):c.4237G>T (p.Glu1413Ter) 397509153 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082524 43082524 C A 69816 duplication NM_007294.3(BRCA1):c.4240dupC (p.Leu1414Profs) 397509154 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234538 41234538 G GG 69816 duplication NM_007294.3(BRCA1):c.4240dupC (p.Leu1414Profs) 397509154 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082521 43082521 G GG 69817 insertion NM_007294.3(BRCA1):c.4242_4243insT (p.Glu1415Terfs) 397509155 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234535 41234536 - A 69817 insertion NM_007294.3(BRCA1):c.4242_4243insT (p.Glu1415Terfs) 397509155 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082518 43082519 - A 69818 single nucleotide variant NM_007294.3(BRCA1):c.4245A>G (p.Glu1415=) 41293453 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41234533 41234533 T C 69818 single nucleotide variant NM_007294.3(BRCA1):c.4245A>G (p.Glu1415=) 41293453 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43082516 43082516 T C 69819 single nucleotide variant NM_007294.3(BRCA1):c.424C>G (p.Pro142Ala) 397509156 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41256156 41256156 G C 69819 single nucleotide variant NM_007294.3(BRCA1):c.424C>G (p.Pro142Ala) 397509156 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43104139 43104139 G C 69820 single nucleotide variant NM_007294.3(BRCA1):c.4253T>G (p.Leu1418Ter) 397509157 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234525 41234525 A C 69820 single nucleotide variant NM_007294.3(BRCA1):c.4253T>G (p.Leu1418Ter) 397509157 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082508 43082508 A C 69821 single nucleotide variant NM_007294.3(BRCA1):c.4255G>C (p.Glu1419Gln) 80357309 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41234523 41234523 C G 69821 single nucleotide variant NM_007294.3(BRCA1):c.4255G>C (p.Glu1419Gln) 80357309 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43082506 43082506 C G 69822 single nucleotide variant NM_007294.3(BRCA1):c.4258C>T (p.Gln1420Ter) 80357305 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41234520 41234520 G A 69822 single nucleotide variant NM_007294.3(BRCA1):c.4258C>T (p.Gln1420Ter) 80357305 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43082503 43082503 G A 69823 single nucleotide variant NM_007294.3(BRCA1):c.4261C>T (p.His1421Tyr) 80357013 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41234517 41234517 G A 69823 single nucleotide variant NM_007294.3(BRCA1):c.4261C>T (p.His1421Tyr) 80357013 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43082500 43082500 G A 69824 single nucleotide variant NM_007294.3(BRCA1):c.4262A>G (p.His1421Arg) 80357079 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41234516 41234516 T C 69824 single nucleotide variant NM_007294.3(BRCA1):c.4262A>G (p.His1421Arg) 80357079 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43082499 43082499 T C 69825 single nucleotide variant NM_007294.3(BRCA1):c.4262A>T (p.His1421Leu) 80357079 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234516 41234516 T A 69825 single nucleotide variant NM_007294.3(BRCA1):c.4262A>T (p.His1421Leu) 80357079 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082499 43082499 T A 69826 duplication NM_007294.3(BRCA1):c.4266dupG (p.Ser1423Glufs) 397509158 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234512 41234512 C CC 69826 duplication NM_007294.3(BRCA1):c.4266dupG (p.Ser1423Glufs) 397509158 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082495 43082495 C CC 69827 deletion NM_007294.3(BRCA1):c.4282_4283delAG (p.Ser1428Leufs) 397509159 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234495 41234496 CT - 69827 deletion NM_007294.3(BRCA1):c.4282_4283delAG (p.Ser1428Leufs) 397509159 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082478 43082479 CT - 69828 single nucleotide variant NM_007294.3(BRCA1):c.4287C>A (p.Tyr1429Ter) 397509160 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234491 41234491 G T 69828 single nucleotide variant NM_007294.3(BRCA1):c.4287C>A (p.Tyr1429Ter) 397509160 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082474 43082474 G T 69829 single nucleotide variant NM_007294.3(BRCA1):c.4288C>T (p.Pro1430Ser) 80357466 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234490 41234490 G A 69829 single nucleotide variant NM_007294.3(BRCA1):c.4288C>T (p.Pro1430Ser) 80357466 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082473 43082473 G A 69830 single nucleotide variant NM_007294.3(BRCA1):c.4294A>C (p.Ile1432Leu) 80357157 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234484 41234484 T G 69830 single nucleotide variant NM_007294.3(BRCA1):c.4294A>C (p.Ile1432Leu) 80357157 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082467 43082467 T G 69831 duplication NM_007294.3(BRCA1):c.4300dupA (p.Ser1434Lysfs) 80357790 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234478 41234478 T TT 69831 duplication NM_007294.3(BRCA1):c.4300dupA (p.Ser1434Lysfs) 80357790 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082461 43082461 T TT 69832 deletion NM_007294.3(BRCA1):c.4307_4308delCT (p.Ser1436Phefs) 397509161 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234470 41234471 AG - 69832 deletion NM_007294.3(BRCA1):c.4307_4308delCT (p.Ser1436Phefs) 397509161 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082453 43082454 AG - 69833 single nucleotide variant NM_007294.3(BRCA1):c.4314C>G (p.Ala1438=) 80356856 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41234464 41234464 G C 69833 single nucleotide variant NM_007294.3(BRCA1):c.4314C>G (p.Ala1438=) 80356856 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43082447 43082447 G C 69834 deletion NM_007294.3(BRCA1):c.431delA (p.Asn144Ilefs) 397509162 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256149 41256149 T - 69834 deletion NM_007294.3(BRCA1):c.431delA (p.Asn144Ilefs) 397509162 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104132 43104132 T - 69835 duplication NM_007294.3(BRCA1):c.4321dupG (p.Asp1441Glyfs) 80357748 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234457 41234457 C CC 69835 duplication NM_007294.3(BRCA1):c.4321dupG (p.Asp1441Glyfs) 80357748 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082440 43082440 C CC 69836 single nucleotide variant NM_007294.3(BRCA1):c.4328G>A (p.Arg1443Gln) 4986849 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234450 41234450 C T 69836 single nucleotide variant NM_007294.3(BRCA1):c.4328G>A (p.Arg1443Gln) 4986849 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082433 43082433 C T 69837 deletion NM_007294.3(BRCA1):c.4331_4332delAT (p.Asn1444Thrfs) 397509163 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234446 41234447 AT - 69837 deletion NM_007294.3(BRCA1):c.4331_4332delAT (p.Asn1444Thrfs) 397509163 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082429 43082430 AT - 69838 deletion NM_007294.3(BRCA1):c.4331_4338delATCCAGAA (p.Asn1444Thrfs) 80357825 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234440 41234447 TTCTGGAT - 69838 deletion NM_007294.3(BRCA1):c.4331_4338delATCCAGAA (p.Asn1444Thrfs) 80357825 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082423 43082430 TTCTGGAT - 69839 duplication NM_007294.3(BRCA1):c.4335_4338dupAGAA (p.Gln1447Argfs) 397509164 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41234440 41234443 TTCT TTCTTTCT 69839 duplication NM_007294.3(BRCA1):c.4335_4338dupAGAA (p.Gln1447Argfs) 397509164 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43082423 43082426 TTCT TTCTTTCT 69840 single nucleotide variant NM_007294.3(BRCA1):c.4339C>T (p.Gln1447Ter) 80357067 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234439 41234439 G A 69840 single nucleotide variant NM_007294.3(BRCA1):c.4339C>T (p.Gln1447Ter) 80357067 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082422 43082422 G A 69841 single nucleotide variant NM_007294.3(BRCA1):c.4342A>G (p.Ser1448Gly) 80357486 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41234436 41234436 T C 69841 single nucleotide variant NM_007294.3(BRCA1):c.4342A>G (p.Ser1448Gly) 80357486 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43082419 43082419 T C 69842 single nucleotide variant NM_007294.3(BRCA1):c.4343G>C (p.Ser1448Thr) 80357354 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234435 41234435 C G 69842 single nucleotide variant NM_007294.3(BRCA1):c.4343G>C (p.Ser1448Thr) 80357354 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082418 43082418 C G 69843 single nucleotide variant NM_007294.3(BRCA1):c.4347A>G (p.Thr1449=) 80356840 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41234431 41234431 T C 69843 single nucleotide variant NM_007294.3(BRCA1):c.4347A>G (p.Thr1449=) 80356840 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43082414 43082414 T C 69844 single nucleotide variant NM_007294.3(BRCA1):c.4357+1G>C 80358027 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41234420 41234420 C G 69844 single nucleotide variant NM_007294.3(BRCA1):c.4357+1G>C 80358027 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43082403 43082403 C G 69845 single nucleotide variant NM_007294.3(BRCA1):c.4357+1G>T 80358027 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41234420 41234420 C A 69845 single nucleotide variant NM_007294.3(BRCA1):c.4357+1G>T 80358027 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43082403 43082403 C A 69846 deletion NM_007294.3(BRCA1):c.4357+1delG 397509165 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234420 41234420 C - 69846 deletion NM_007294.3(BRCA1):c.4357+1delG 397509165 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082403 43082403 C - 69847 single nucleotide variant NM_007294.3(BRCA1):c.4357+2T>C 80358152 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234419 41234419 A G 69847 single nucleotide variant NM_007294.3(BRCA1):c.4357+2T>C 80358152 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082402 43082402 A G 69848 single nucleotide variant NM_007294.3(BRCA1):c.4357+6T>G 80358143 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234415 41234415 A C 69848 single nucleotide variant NM_007294.3(BRCA1):c.4357+6T>G 80358143 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082398 43082398 A C 69849 single nucleotide variant NM_007294.3(BRCA1):c.4370C>G (p.Ser1457Ter) 80357130 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41228619 41228619 G C 69849 single nucleotide variant NM_007294.3(BRCA1):c.4370C>G (p.Ser1457Ter) 80357130 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43076602 43076602 G C 70222 deletion NM_007294.3(BRCA1):c.536delA (p.Tyr179Serfs) 397509273 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43099786 43099786 T - 69850 single nucleotide variant NM_007294.3(BRCA1):c.4372C>T (p.Gln1458Ter) 80356932 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41228617 41228617 G A 69850 single nucleotide variant NM_007294.3(BRCA1):c.4372C>T (p.Gln1458Ter) 80356932 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43076600 43076600 G A 69851 deletion NM_007294.3(BRCA1):c.4373_4389del17 (p.Gln1458Profs) 80359885 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41228600 41228616 na na 69851 deletion NM_007294.3(BRCA1):c.4373_4389del17 (p.Gln1458Profs) 80359885 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43076583 43076599 na na 69852 single nucleotide variant NM_007294.3(BRCA1):c.4379G>A (p.Ser1460Asn) 397509167 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41228610 41228610 C T 69852 single nucleotide variant NM_007294.3(BRCA1):c.4379G>A (p.Ser1460Asn) 397509167 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43076593 43076593 C T 69853 deletion NM_007294.3(BRCA1):c.437_440delCCTT (p.Ser146Cysfs) 397509168 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256140 41256143 AAGG - 69853 deletion NM_007294.3(BRCA1):c.437_440delCCTT (p.Ser146Cysfs) 397509168 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104123 43104126 AAGG - 69854 single nucleotide variant NM_007294.3(BRCA1):c.4389C>A (p.Tyr1463Ter) 80356997 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41228600 41228600 G T 69854 single nucleotide variant NM_007294.3(BRCA1):c.4389C>A (p.Tyr1463Ter) 80356997 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43076583 43076583 G T 69855 indel NM_007294.3(BRCA1):c.4391_4403delCTATAAGCCAGAAinsTT (p.Pro1464Leufs) 273900731 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41228586 41228598 TTCTGGCTTATAG AA 69855 indel NM_007294.3(BRCA1):c.4391_4403delCTATAAGCCAGAAinsTT (p.Pro1464Leufs) 273900731 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43076569 43076581 TTCTGGCTTATAG AA 69856 duplication NM_007294.3(BRCA1):c.4391dupC (p.Ile1465Tyrfs) 397509169 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41228598 41228598 G GG 69858 single nucleotide variant NM_007294.3(BRCA1):c.4399C>T (p.Gln1467Ter) 397509171 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41228590 41228590 G A 69858 single nucleotide variant NM_007294.3(BRCA1):c.4399C>T (p.Gln1467Ter) 397509171 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43076573 43076573 G A 69859 single nucleotide variant NM_007294.3(BRCA1):c.43A>C (p.Ile15Leu) 80357031 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41276071 41276071 T G 69859 single nucleotide variant NM_007294.3(BRCA1):c.43A>C (p.Ile15Leu) 80357031 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43124054 43124054 T G 69860 single nucleotide variant NM_007294.3(BRCA1):c.4402A>C (p.Asn1468His) 80357022 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41228587 41228587 T G 69860 single nucleotide variant NM_007294.3(BRCA1):c.4402A>C (p.Asn1468His) 80357022 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43076570 43076570 T G 69861 single nucleotide variant NM_007294.3(BRCA1):c.4405C>T (p.Pro1469Ser) 80356960 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41228584 41228584 G A 69861 single nucleotide variant NM_007294.3(BRCA1):c.4405C>T (p.Pro1469Ser) 80356960 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43076567 43076567 G A 69862 single nucleotide variant NM_007294.3(BRCA1):c.441+1G>A 397509172 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256138 41256138 C T 69862 single nucleotide variant NM_007294.3(BRCA1):c.441+1G>A 397509172 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104121 43104121 C T 69863 single nucleotide variant NM_007294.3(BRCA1):c.441+2T>A 397509173 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256137 41256137 A T 69863 single nucleotide variant NM_007294.3(BRCA1):c.441+2T>A 397509173 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104120 43104120 A T 69864 indel NM_007294.3(BRCA1):c.4416_4417delTTinsG (p.Ser1473Leufs) 397509174 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41228572 41228573 AA C 69864 indel NM_007294.3(BRCA1):c.4416_4417delTTinsG (p.Ser1473Leufs) 397509174 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43076555 43076556 AA C 69865 deletion NM_007294.3(BRCA1):c.442_444delCAG (p.Gln148del) 397509175 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41251895 41251897 CTG - 69865 deletion NM_007294.3(BRCA1):c.442_444delCAG (p.Gln148del) 397509175 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43099878 43099880 CTG - 69866 deletion NM_007294.3(BRCA1):c.4435delG (p.Val1479Cysfs) 397509176 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41228554 41228554 C - 69866 deletion NM_007294.3(BRCA1):c.4435delG (p.Val1479Cysfs) 397509176 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43076537 43076537 C - 69867 deletion NM_007294.3(BRCA1):c.4447delA (p.Ser1483Valfs) 397509177 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41228542 41228542 T - 69867 deletion NM_007294.3(BRCA1):c.4447delA (p.Ser1483Valfs) 397509177 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43076525 43076525 T - 69868 single nucleotide variant NM_007294.3(BRCA1):c.4450T>A (p.Ser1484Thr) 80357404 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41228539 41228539 A T 69868 single nucleotide variant NM_007294.3(BRCA1):c.4450T>A (p.Ser1484Thr) 80357404 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43076522 43076522 A T 69869 deletion NM_007294.3(BRCA1):c.4452_4455delTACC (p.Thr1485Valfs) 397509178 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41228534 41228537 GGTA - 69869 deletion NM_007294.3(BRCA1):c.4452_4455delTACC (p.Thr1485Valfs) 397509178 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43076517 43076520 GGTA - 69870 single nucleotide variant NM_007294.3(BRCA1):c.4454C>T (p.Thr1485Ile) 80356870 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41228535 41228535 G A 69870 single nucleotide variant NM_007294.3(BRCA1):c.4454C>T (p.Thr1485Ile) 80356870 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43076518 43076518 G A 69871 deletion NM_007294.3(BRCA1):c.4456delA (p.Ser1486Valfs) 397509179 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41228533 41228533 T - 69871 deletion NM_007294.3(BRCA1):c.4456delA (p.Ser1486Valfs) 397509179 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43076516 43076516 T - 69872 deletion NM_007294.3(BRCA1):c.4457delG (p.Ser1486Ilefs) 397509180 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41228532 41228532 C - 69872 deletion NM_007294.3(BRCA1):c.4457delG (p.Ser1486Ilefs) 397509180 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43076515 43076515 C - 69873 single nucleotide variant NM_007294.3(BRCA1):c.4460A>G (p.Lys1487Arg) 80357126 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41228529 41228529 T C 69873 single nucleotide variant NM_007294.3(BRCA1):c.4460A>G (p.Lys1487Arg) 80357126 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43076512 43076512 T C 69874 single nucleotide variant NM_007294.3(BRCA1):c.4471C>G (p.Pro1491Ala) 111034213 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41228518 41228518 G C 69874 single nucleotide variant NM_007294.3(BRCA1):c.4471C>G (p.Pro1491Ala) 111034213 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43076501 43076501 G C 69875 single nucleotide variant NM_007294.3(BRCA1):c.4480G>A (p.Glu1494Lys) 80357148 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41228509 41228509 C T 69875 single nucleotide variant NM_007294.3(BRCA1):c.4480G>A (p.Glu1494Lys) 80357148 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43076492 43076492 C T 69876 single nucleotide variant NM_007294.3(BRCA1):c.4480G>T (p.Glu1494Ter) 80357148 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41228509 41228509 C A 69876 single nucleotide variant NM_007294.3(BRCA1):c.4480G>T (p.Glu1494Ter) 80357148 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43076492 43076492 C A 69877 single nucleotide variant NM_007294.3(BRCA1):c.4484+14A>G 80358022 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 41228491 41228491 T C 69877 single nucleotide variant NM_007294.3(BRCA1):c.4484+14A>G 80358022 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 43076474 43076474 T C 69878 deletion NM_007294.3(BRCA1):c.4484+1delG 397509181 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41228504 41228504 C - 69878 deletion NM_007294.3(BRCA1):c.4484+1delG 397509181 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43076487 43076487 C - 69879 undetermined variant NM_007294.3:c.4484+2 -1 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 na -1 -1 na na 69880 single nucleotide variant NM_007294.3(BRCA1):c.4485-1G>A 80358189 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41226539 41226539 C T 69880 single nucleotide variant NM_007294.3(BRCA1):c.4485-1G>A 80358189 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43074522 43074522 C T 69881 single nucleotide variant NM_007294.3(BRCA1):c.4485-2A>G 80358054 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41226540 41226540 T C 69881 single nucleotide variant NM_007294.3(BRCA1):c.4485-2A>G 80358054 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43074523 43074523 T C 69882 single nucleotide variant NM_007294.3(BRCA1):c.4487C>A (p.Ser1496Ter) 80356953 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41226536 41226536 G T 69882 single nucleotide variant NM_007294.3(BRCA1):c.4487C>A (p.Ser1496Ter) 80356953 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43074519 43074519 G T 69883 single nucleotide variant NM_007294.3(BRCA1):c.4487C>G (p.Ser1496Ter) 80356953 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41226536 41226536 G C 69883 single nucleotide variant NM_007294.3(BRCA1):c.4487C>G (p.Ser1496Ter) 80356953 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43074519 43074519 G C 69884 single nucleotide variant NM_007294.3(BRCA1):c.44T>C (p.Ile15Thr) 80357316 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41276070 41276070 A G 69884 single nucleotide variant NM_007294.3(BRCA1):c.44T>C (p.Ile15Thr) 80357316 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43124053 43124053 A G 69885 single nucleotide variant NM_007294.3(BRCA1):c.4504C>T (p.Pro1502Ser) 80357383 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41226519 41226519 G A 69885 single nucleotide variant NM_007294.3(BRCA1):c.4504C>T (p.Pro1502Ser) 80357383 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43074502 43074502 G A 69886 single nucleotide variant NM_007294.3(BRCA1):c.4508C>A (p.Ser1503Ter) 80357437 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41226515 41226515 G T 69886 single nucleotide variant NM_007294.3(BRCA1):c.4508C>A (p.Ser1503Ter) 80357437 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43074498 43074498 G T 69887 deletion NM_007294.3(BRCA1):c.4516delG (p.Asp1506Ilefs) 273900736 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41226507 41226507 C - 69887 deletion NM_007294.3(BRCA1):c.4516delG (p.Asp1506Ilefs) 273900736 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43074490 43074490 C - 69888 single nucleotide variant NM_007294.3(BRCA1):c.4524G>A (p.Trp1508Ter) 80356885 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41226499 41226499 C T 69888 single nucleotide variant NM_007294.3(BRCA1):c.4524G>A (p.Trp1508Ter) 80356885 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43074482 43074482 C T 69889 deletion NM_007294.3(BRCA1):c.4528delA (p.Met1510Cysfs) 397509182 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41226495 41226495 T - 69889 deletion NM_007294.3(BRCA1):c.4528delA (p.Met1510Cysfs) 397509182 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43074478 43074478 T - 69890 deletion NM_007294.3(BRCA1):c.4533_4534delCA (p.His1511Glnfs) 80357534 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41226489 41226490 TG - 69890 deletion NM_007294.3(BRCA1):c.4533_4534delCA (p.His1511Glnfs) 80357534 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43074472 43074473 TG - 69891 single nucleotide variant NM_007294.3(BRCA1):c.4534A>T (p.Ser1512Cys) 80357137 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41226489 41226489 T A 69891 single nucleotide variant NM_007294.3(BRCA1):c.4534A>T (p.Ser1512Cys) 80357137 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43074472 43074472 T A 69892 deletion NM_007294.3(BRCA1):c.4534_4535delAG (p.Ser1512Leufs) 397509183 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41226488 41226489 CT - 69893 single nucleotide variant NM_007294.3(BRCA1):c.4552C>T (p.Gln1518Ter) 80356881 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41226471 41226471 G A 69893 single nucleotide variant NM_007294.3(BRCA1):c.4552C>T (p.Gln1518Ter) 80356881 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43074454 43074454 G A 69894 single nucleotide variant NM_007294.3(BRCA1):c.455T>C (p.Leu152Pro) 80357275 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41251884 41251884 A G 69894 single nucleotide variant NM_007294.3(BRCA1):c.455T>C (p.Leu152Pro) 80357275 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43099867 43099867 A G 69895 single nucleotide variant NM_007294.3(BRCA1):c.4565A>G (p.Tyr1522Cys) 80357379 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41226458 41226458 T C 69895 single nucleotide variant NM_007294.3(BRCA1):c.4565A>G (p.Tyr1522Cys) 80357379 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43074441 43074441 T C 69896 deletion NM_007294.3(BRCA1):c.4574_4575delAA (p.Gln1525Argfs) 80357813 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41226448 41226449 TT - 69896 deletion NM_007294.3(BRCA1):c.4574_4575delAA (p.Gln1525Argfs) 80357813 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43074431 43074432 TT - 69897 deletion NM_007294.3(BRCA1):c.4575_4585delAGAGGAGCTCA (p.Gln1525Hisfs) 397509184 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41226438 41226448 TGAGCTCCTCT - 69897 deletion NM_007294.3(BRCA1):c.4575_4585delAGAGGAGCTCA (p.Gln1525Hisfs) 397509184 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43074421 43074431 TGAGCTCCTCT - 69898 single nucleotide variant NM_007294.3(BRCA1):c.4579G>A (p.Glu1527Lys) 80357237 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41226444 41226444 C T 69898 single nucleotide variant NM_007294.3(BRCA1):c.4579G>A (p.Glu1527Lys) 80357237 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43074427 43074427 C T 69899 deletion NM_007294.3(BRCA1):c.457_458delAG (p.Ser153Cysfs) 397509185 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41251881 41251882 CT - 69899 deletion NM_007294.3(BRCA1):c.457_458delAG (p.Ser153Cysfs) 397509185 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43099864 43099865 CT - 69900 single nucleotide variant NM_007294.3(BRCA1):c.4585A>G (p.Ile1529Val) 80357095 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41226438 41226438 T C 69900 single nucleotide variant NM_007294.3(BRCA1):c.4585A>G (p.Ile1529Val) 80357095 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43074421 43074421 T C 69901 insertion NM_007294.3(BRCA1):c.4595_4596insCT (p.Asp1533Leufs) 80357699 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41226427 41226428 - AG 69901 insertion NM_007294.3(BRCA1):c.4595_4596insCT (p.Asp1533Leufs) 80357699 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43074410 43074411 - AG 69902 single nucleotide variant NM_007294.3(BRCA1):c.4600G>A (p.Val1534Met) 55815649 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41226423 41226423 C T 69902 single nucleotide variant NM_007294.3(BRCA1):c.4600G>A (p.Val1534Met) 55815649 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43074406 43074406 C T 69903 single nucleotide variant NM_007294.3(BRCA1):c.4603G>T (p.Glu1535Ter) 80357366 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41226420 41226420 C A 69903 single nucleotide variant NM_007294.3(BRCA1):c.4603G>T (p.Glu1535Ter) 80357366 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43074403 43074403 C A 69904 single nucleotide variant NM_007294.3(BRCA1):c.4609C>T (p.Gln1537Ter) 80357229 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41226414 41226414 G A 69904 single nucleotide variant NM_007294.3(BRCA1):c.4609C>T (p.Gln1537Ter) 80357229 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43074397 43074397 G A 69905 insertion NM_007294.3(BRCA1):c.4611_4612insG (p.Gln1538Alafs) 80357915 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41226411 41226412 - C 69905 insertion NM_007294.3(BRCA1):c.4611_4612insG (p.Gln1538Alafs) 80357915 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43074394 43074395 - C 69906 single nucleotide variant NM_007294.3(BRCA1):c.4612C>T (p.Gln1538Ter) 80356992 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41226411 41226411 G A 69906 single nucleotide variant NM_007294.3(BRCA1):c.4612C>T (p.Gln1538Ter) 80356992 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43074394 43074394 G A 69907 single nucleotide variant NM_007294.3(BRCA1):c.4618G>T (p.Glu1540Ter) 80357277 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41226405 41226405 C A 69907 single nucleotide variant NM_007294.3(BRCA1):c.4618G>T (p.Glu1540Ter) 80357277 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43074388 43074388 C A 69908 single nucleotide variant NM_007294.3(BRCA1):c.4621G>T (p.Glu1541Ter) 80357248 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41226402 41226402 C A 69908 single nucleotide variant NM_007294.3(BRCA1):c.4621G>T (p.Glu1541Ter) 80357248 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43074385 43074385 C A 69909 single nucleotide variant NM_007294.3(BRCA1):c.4625C>G (p.Ser1542Cys) 41293457 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41226398 41226398 G C 69909 single nucleotide variant NM_007294.3(BRCA1):c.4625C>G (p.Ser1542Cys) 41293457 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43074381 43074381 G C 69910 deletion NM_007294.3(BRCA1):c.4625_4626delCT (p.Ser1542Trpfs) 80357542 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41226397 41226398 AG - 69910 deletion NM_007294.3(BRCA1):c.4625_4626delCT (p.Ser1542Trpfs) 80357542 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43074380 43074381 AG - 69911 single nucleotide variant NM_007294.3(BRCA1):c.4631C>T (p.Pro1544Leu) 80356917 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41226392 41226392 G A 69911 single nucleotide variant NM_007294.3(BRCA1):c.4631C>T (p.Pro1544Leu) 80356917 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43074375 43074375 G A 69912 single nucleotide variant NM_007294.3(BRCA1):c.4636G>A (p.Asp1546Asn) 28897691 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41226387 41226387 C T 69912 single nucleotide variant NM_007294.3(BRCA1):c.4636G>A (p.Asp1546Asn) 28897691 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43074370 43074370 C T 69913 single nucleotide variant NM_007294.3(BRCA1):c.4636G>T (p.Asp1546Tyr) 28897691 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41226387 41226387 C A 69913 single nucleotide variant NM_007294.3(BRCA1):c.4636G>T (p.Asp1546Tyr) 28897691 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43074370 43074370 C A 69914 single nucleotide variant NM_007294.3(BRCA1):c.463C>G (p.Gln155Glu) 80357180 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41251876 41251876 G C 69914 single nucleotide variant NM_007294.3(BRCA1):c.463C>G (p.Gln155Glu) 80357180 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43099859 43099859 G C 69915 single nucleotide variant NM_007294.3(BRCA1):c.463C>T (p.Gln155Ter) 80357180 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41251876 41251876 G A 69915 single nucleotide variant NM_007294.3(BRCA1):c.463C>T (p.Gln155Ter) 80357180 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43099859 43099859 G A 69916 single nucleotide variant NM_007294.3(BRCA1):c.4643C>T (p.Thr1548Met) 273900737 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41226380 41226380 G A 69916 single nucleotide variant NM_007294.3(BRCA1):c.4643C>T (p.Thr1548Met) 273900737 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43074363 43074363 G A 69917 deletion NM_007294.3(BRCA1):c.4646_4665del20 (p.Glu1549Alafs) 397509186 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41226358 41226377 na na 69917 deletion NM_007294.3(BRCA1):c.4646_4665del20 (p.Glu1549Alafs) 397509186 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43074341 43074360 na na 69918 single nucleotide variant NM_007294.3(BRCA1):c.4649C>T (p.Thr1550Ile) 80357076 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41226374 41226374 G A 69918 single nucleotide variant NM_007294.3(BRCA1):c.4649C>T (p.Thr1550Ile) 80357076 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43074357 43074357 G A 69919 deletion NM_007294.3(BRCA1):c.4655_4658delACTT (p.Tyr1552Cysfs) 80357561 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41226365 41226368 AAGT - 69919 deletion NM_007294.3(BRCA1):c.4655_4658delACTT (p.Tyr1552Cysfs) 80357561 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43074348 43074351 AAGT - 69920 single nucleotide variant NM_007294.3(BRCA1):c.4656C>G (p.Tyr1552Ter) 80357151 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41226367 41226367 G C 69920 single nucleotide variant NM_007294.3(BRCA1):c.4656C>G (p.Tyr1552Ter) 80357151 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43074350 43074350 G C 69921 single nucleotide variant NM_007294.3(BRCA1):c.4657T>A (p.Leu1553Met) 80357431 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41226366 41226366 A T 69921 single nucleotide variant NM_007294.3(BRCA1):c.4657T>A (p.Leu1553Met) 80357431 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43074349 43074349 A T 69922 single nucleotide variant NM_007294.3(BRCA1):c.4669G>C (p.Asp1557His) 80356906 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41226354 41226354 C G 69922 single nucleotide variant NM_007294.3(BRCA1):c.4669G>C (p.Asp1557His) 80356906 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43074337 43074337 C G 69923 single nucleotide variant NM_007294.3(BRCA1):c.4675+1G>A 80358044 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41226347 41226347 C T 69982 deletion NM_007294.3(BRCA1):c.4910delC (p.Pro1637Glnfs) 397509204 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071004 43071004 G - 69923 single nucleotide variant NM_007294.3(BRCA1):c.4675+1G>A 80358044 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43074330 43074330 C T 69924 single nucleotide variant NM_007294.3(BRCA1):c.4678G>T (p.Gly1560Ter) 80357349 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41223253 41223253 C A 69924 single nucleotide variant NM_007294.3(BRCA1):c.4678G>T (p.Gly1560Ter) 80357349 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43071236 43071236 C A 69925 deletion NM_007294.3(BRCA1):c.4681delA (p.Thr1561Profs) 397509187 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223250 41223250 T - 69925 deletion NM_007294.3(BRCA1):c.4681delA (p.Thr1561Profs) 397509187 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071233 43071233 T - 69926 single nucleotide variant NM_007294.3(BRCA1):c.4682C>T (p.Thr1561Ile) 56158747 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41223249 41223249 G A 69926 single nucleotide variant NM_007294.3(BRCA1):c.4682C>T (p.Thr1561Ile) 56158747 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43071232 43071232 G A 69927 deletion NM_007294.3(BRCA1):c.4684_4685delCC (p.Pro1562Leufs) 397509188 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223246 41223247 GG - 69927 deletion NM_007294.3(BRCA1):c.4684_4685delCC (p.Pro1562Leufs) 397509188 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071229 43071230 GG - 69928 single nucleotide variant NM_007294.3(BRCA1):c.4685C>T (p.Pro1562Leu) 80357096 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223246 41223246 G A 69928 single nucleotide variant NM_007294.3(BRCA1):c.4685C>T (p.Pro1562Leu) 80357096 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071229 43071229 G A 69929 single nucleotide variant NM_007294.3(BRCA1):c.4691T>C (p.Leu1564Pro) 56119278 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41223240 41223240 A G 69929 single nucleotide variant NM_007294.3(BRCA1):c.4691T>C (p.Leu1564Pro) 56119278 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43071223 43071223 A G 69930 duplication NM_007294.3(BRCA1):c.4695dupA (p.Ser1566Ilefs) 397509189 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223236 41223236 T TT 69930 duplication NM_007294.3(BRCA1):c.4695dupA (p.Ser1566Ilefs) 397509189 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071219 43071219 T TT 69931 single nucleotide variant NM_007294.3(BRCA1):c.469T>C (p.Ser157Pro) 80356897 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41251870 41251870 A G 69931 single nucleotide variant NM_007294.3(BRCA1):c.469T>C (p.Ser157Pro) 80356897 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43099853 43099853 A G 69932 single nucleotide variant NM_007294.3(BRCA1):c.4702A>G (p.Ile1568Val) 80357119 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223229 41223229 T C 69932 single nucleotide variant NM_007294.3(BRCA1):c.4702A>G (p.Ile1568Val) 80357119 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071212 43071212 T C 69933 single nucleotide variant NM_007294.3(BRCA1):c.470C>G (p.Ser157Cys) 80357045 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 41251869 41251869 G C 69933 single nucleotide variant NM_007294.3(BRCA1):c.470C>G (p.Ser157Cys) 80357045 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 43099852 43099852 G C 69934 deletion NM_007294.3(BRCA1):c.470_477delCTAACCTT (p.Ser157Trpfs) 397509190 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41251862 41251869 AAGGTTAG - 69934 deletion NM_007294.3(BRCA1):c.470_477delCTAACCTT (p.Ser157Trpfs) 397509190 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43099845 43099852 AAGGTTAG - 69935 single nucleotide variant NM_007294.3(BRCA1):c.4712T>C (p.Phe1571Ser) 273901740 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223219 41223219 A G 69935 single nucleotide variant NM_007294.3(BRCA1):c.4712T>C (p.Phe1571Ser) 273901740 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071202 43071202 A G 69936 deletion NM_007294.3(BRCA1):c.4712_4716delTCTCT (p.Phe1571Terfs) 80357718 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223215 41223219 AGAGA - 69936 deletion NM_007294.3(BRCA1):c.4712_4716delTCTCT (p.Phe1571Terfs) 80357718 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071198 43071202 AGAGA - 69937 single nucleotide variant NM_007294.3(BRCA1):c.4724C>A (p.Pro1575His) 80357052 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223207 41223207 G T 69937 single nucleotide variant NM_007294.3(BRCA1):c.4724C>A (p.Pro1575His) 80357052 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071190 43071190 G T 69938 deletion NM_007294.3(BRCA1):c.4724delC (p.Pro1575Leufs) 397509191 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223207 41223207 G - 69938 deletion NM_007294.3(BRCA1):c.4724delC (p.Pro1575Leufs) 397509191 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071190 43071190 G - 69939 single nucleotide variant NM_007294.3(BRCA1):c.4729T>C (p.Ser1577Pro) 80356909 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41223202 41223202 A G 69939 single nucleotide variant NM_007294.3(BRCA1):c.4729T>C (p.Ser1577Pro) 80356909 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43071185 43071185 A G 69940 single nucleotide variant NM_007294.3(BRCA1):c.472A>T (p.Asn158Tyr) 397509192 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41251867 41251867 T A 69940 single nucleotide variant NM_007294.3(BRCA1):c.472A>T (p.Asn158Tyr) 397509192 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43099850 43099850 T A 69941 single nucleotide variant NM_007294.3(BRCA1):c.4733A>G (p.Asp1578Gly) 80356930 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41223198 41223198 T C 69941 single nucleotide variant NM_007294.3(BRCA1):c.4733A>G (p.Asp1578Gly) 80356930 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43071181 43071181 T C 69942 single nucleotide variant NM_007294.3(BRCA1):c.4739C>T (p.Ser1580Phe) 80357411 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41223192 41223192 G A 69942 single nucleotide variant NM_007294.3(BRCA1):c.4739C>T (p.Ser1580Phe) 80357411 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43071175 43071175 G A 69943 single nucleotide variant NM_007294.3(BRCA1):c.4741G>T (p.Glu1581Ter) 397509193 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223190 41223190 C A 69943 single nucleotide variant NM_007294.3(BRCA1):c.4741G>T (p.Glu1581Ter) 397509193 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071173 43071173 C A 69944 single nucleotide variant NM_007294.3(BRCA1):c.4743A>C (p.Glu1581Asp) 397509194 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223188 41223188 T G 69944 single nucleotide variant NM_007294.3(BRCA1):c.4743A>C (p.Glu1581Asp) 397509194 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071171 43071171 T G 69945 deletion NM_007294.3(BRCA1):c.4745delA (p.Asp1582Alafs) 80357907 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223186 41223186 T - 69945 deletion NM_007294.3(BRCA1):c.4745delA (p.Asp1582Alafs) 80357907 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071169 43071169 T - 69946 single nucleotide variant NM_007294.3(BRCA1):c.4750G>T (p.Ala1584Ser) 80357070 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41223181 41223181 C A 69946 single nucleotide variant NM_007294.3(BRCA1):c.4750G>T (p.Ala1584Ser) 80357070 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43071164 43071164 C A 69947 deletion NM_007294.3(BRCA1):c.4754_4755delCA (p.Pro1585Argfs) 80357837 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41223176 41223177 TG - 69947 deletion NM_007294.3(BRCA1):c.4754_4755delCA (p.Pro1585Argfs) 80357837 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43071159 43071160 TG - 69948 single nucleotide variant NM_007294.3(BRCA1):c.4760C>G (p.Ser1587Ter) 397509195 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41223171 41223171 G C 69948 single nucleotide variant NM_007294.3(BRCA1):c.4760C>G (p.Ser1587Ter) 397509195 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43071154 43071154 G C 69949 deletion NM_007294.3(BRCA1):c.4764delT (p.Arg1589Valfs) 397509196 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223167 41223167 A - 69949 deletion NM_007294.3(BRCA1):c.4764delT (p.Arg1589Valfs) 397509196 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071150 43071150 A - 69950 single nucleotide variant NM_007294.3(BRCA1):c.4765C>T (p.Arg1589Cys) 80357002 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41223166 41223166 G A 69950 single nucleotide variant NM_007294.3(BRCA1):c.4765C>T (p.Arg1589Cys) 80357002 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43071149 43071149 G A 69951 single nucleotide variant NM_007294.3(BRCA1):c.4766G>A (p.Arg1589His) 80357341 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41223165 41223165 C T 69951 single nucleotide variant NM_007294.3(BRCA1):c.4766G>A (p.Arg1589His) 80357341 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43071148 43071148 C T 69952 single nucleotide variant NM_007294.3(BRCA1):c.4777A>G (p.Ile1593Val) 397509197 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41223154 41223154 T C 69952 single nucleotide variant NM_007294.3(BRCA1):c.4777A>G (p.Ile1593Val) 397509197 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43071137 43071137 T C 69953 single nucleotide variant NM_007294.3(BRCA1):c.4777A>T (p.Ile1593Leu) 397509197 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223154 41223154 T A 69953 single nucleotide variant NM_007294.3(BRCA1):c.4777A>T (p.Ile1593Leu) 397509197 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071137 43071137 T A 69954 single nucleotide variant NM_007294.3(BRCA1):c.4787C>T (p.Ser1596Leu) 80357429 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223144 41223144 G A 69954 single nucleotide variant NM_007294.3(BRCA1):c.4787C>T (p.Ser1596Leu) 80357429 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071127 43071127 G A 69955 single nucleotide variant NM_007294.3(BRCA1):c.4789A>G (p.Thr1597Ala) 80357187 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223142 41223142 T C 69955 single nucleotide variant NM_007294.3(BRCA1):c.4789A>G (p.Thr1597Ala) 80357187 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071125 43071125 T C 69957 single nucleotide variant NM_007294.3(BRCA1):c.4801A>T (p.Lys1601Ter) 80357303 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223130 41223130 T A 69957 single nucleotide variant NM_007294.3(BRCA1):c.4801A>T (p.Lys1601Ter) 80357303 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071113 43071113 T A 69958 single nucleotide variant NM_007294.3(BRCA1):c.4810C>T (p.Gln1604Ter) 80357352 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41223121 41223121 G A 69958 single nucleotide variant NM_007294.3(BRCA1):c.4810C>T (p.Gln1604Ter) 80357352 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43071104 43071104 G A 69959 single nucleotide variant NM_007294.3(BRCA1):c.4811A>G (p.Gln1604Arg) 80357439 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223120 41223120 T C 69959 single nucleotide variant NM_007294.3(BRCA1):c.4811A>G (p.Gln1604Arg) 80357439 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071103 43071103 T C 69960 single nucleotide variant NM_007294.3(BRCA1):c.4812A>G (p.Gln1604=) 28897693 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41223119 41223119 T C 69960 single nucleotide variant NM_007294.3(BRCA1):c.4812A>G (p.Gln1604=) 28897693 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43071102 43071102 T C 69961 single nucleotide variant NM_007294.3(BRCA1):c.4813T>C (p.Leu1605=) 80356833 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41223118 41223118 A G 69961 single nucleotide variant NM_007294.3(BRCA1):c.4813T>C (p.Leu1605=) 80356833 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43071101 43071101 A G 69962 single nucleotide variant NM_007294.3(BRCA1):c.4813T>G (p.Leu1605Val) 80356833 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223118 41223118 A C 69962 single nucleotide variant NM_007294.3(BRCA1):c.4813T>G (p.Leu1605Val) 80356833 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071101 43071101 A C 69963 single nucleotide variant NM_007294.3(BRCA1):c.4823C>T (p.Ala1608Val) 80357072 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223108 41223108 G A 69963 single nucleotide variant NM_007294.3(BRCA1):c.4823C>T (p.Ala1608Val) 80357072 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071091 43071091 G A 69964 single nucleotide variant NM_007294.3(BRCA1):c.4833C>T (p.Ala1611=) 80356842 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223098 41223098 G A 69964 single nucleotide variant NM_007294.3(BRCA1):c.4833C>T (p.Ala1611=) 80356842 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071081 43071081 G A 69965 duplication NM_007294.3(BRCA1):c.4836dupG (p.Ser1613Glufs) 397509198 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223095 41223095 C CC 69965 duplication NM_007294.3(BRCA1):c.4836dupG (p.Ser1613Glufs) 397509198 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071078 43071078 C CC 69966 deletion NM_007294.3(BRCA1):c.4837delA (p.Ser1613Valfs) 397509199 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223094 41223094 T - 69966 deletion NM_007294.3(BRCA1):c.4837delA (p.Ser1613Valfs) 397509199 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071077 43071077 T - 69967 insertion NM_007294.3(BRCA1):c.4838_4839insC (p.Pro1614Serfs) 397509200 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223092 41223093 - G 69967 insertion NM_007294.3(BRCA1):c.4838_4839insC (p.Pro1614Serfs) 397509200 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071075 43071076 - G 69968 single nucleotide variant NM_007294.3(BRCA1):c.4840C>T (p.Pro1614Ser) 70953660 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41223091 41223091 G A 69968 single nucleotide variant NM_007294.3(BRCA1):c.4840C>T (p.Pro1614Ser) 70953660 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43071074 43071074 G A 69969 single nucleotide variant NM_007294.3(BRCA1):c.4843G>A (p.Ala1615Thr) 80356987 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41223088 41223088 C T 69969 single nucleotide variant NM_007294.3(BRCA1):c.4843G>A (p.Ala1615Thr) 80356987 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43071071 43071071 C T 69970 single nucleotide variant NM_007294.3(BRCA1):c.484G>C (p.Val162Leu) 55816927 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41251855 41251855 C G 69970 single nucleotide variant NM_007294.3(BRCA1):c.484G>C (p.Val162Leu) 55816927 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43099838 43099838 C G 69971 deletion NM_007294.3(BRCA1):c.485_486delTG (p.Val162Glufs) 80357708 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41251853 41251854 CA - 69971 deletion NM_007294.3(BRCA1):c.485_486delTG (p.Val162Glufs) 80357708 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43099836 43099837 CA - 69972 deletion NM_007294.3(BRCA1):c.4873_4885delTATAATGCAATGG (p.Tyr1625Lysfs) 397509201 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223046 41223058 CCATTGCATTATA - 69972 deletion NM_007294.3(BRCA1):c.4873_4885delTATAATGCAATGG (p.Tyr1625Lysfs) 397509201 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071029 43071041 CCATTGCATTATA - 69973 single nucleotide variant NM_007294.3(BRCA1):c.4882A>G (p.Met1628Val) 80357465 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41223049 41223049 T C 69973 single nucleotide variant NM_007294.3(BRCA1):c.4882A>G (p.Met1628Val) 80357465 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43071032 43071032 T C 69974 single nucleotide variant NM_007294.3(BRCA1):c.4884G>T (p.Met1628Ile) 80357158 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223047 41223047 C A 69974 single nucleotide variant NM_007294.3(BRCA1):c.4884G>T (p.Met1628Ile) 80357158 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071030 43071030 C A 69975 deletion NM_007294.3(BRCA1):c.488delG (p.Arg163Lysfs) 397509202 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41251851 41251851 C - 69975 deletion NM_007294.3(BRCA1):c.488delG (p.Arg163Lysfs) 397509202 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43099834 43099834 C - 70165 single nucleotide variant NM_007294.3(BRCA1):c.5277+5A>T 397509252 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057047 43057047 T A 69976 single nucleotide variant NM_007294.3(BRCA1):c.4892G>A (p.Ser1631Asn) 273901742 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223039 41223039 C T 69976 single nucleotide variant NM_007294.3(BRCA1):c.4892G>A (p.Ser1631Asn) 273901742 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071022 43071022 C T 69977 single nucleotide variant NM_007294.3(BRCA1):c.4893T>C (p.Ser1631=) 80356850 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223038 41223038 A G 69977 single nucleotide variant NM_007294.3(BRCA1):c.4893T>C (p.Ser1631=) 80356850 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071021 43071021 A G 69978 single nucleotide variant NM_007294.3(BRCA1):c.4903G>T (p.Glu1635Ter) 200432771 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41223028 41223028 C A 69978 single nucleotide variant NM_007294.3(BRCA1):c.4903G>T (p.Glu1635Ter) 200432771 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43071011 43071011 C A 69979 deletion NM_007294.3(BRCA1):c.4905_4906delGA (p.Lys1636Alafs) 397509203 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223025 41223026 TC - 69979 deletion NM_007294.3(BRCA1):c.4905_4906delGA (p.Lys1636Alafs) 397509203 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43071008 43071009 TC - 69980 single nucleotide variant NM_007294.3(BRCA1):c.490A>C (p.Thr164Pro) 80357384 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41251849 41251849 T G 69980 single nucleotide variant NM_007294.3(BRCA1):c.490A>C (p.Thr164Pro) 80357384 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43099832 43099832 T G 69981 single nucleotide variant NM_007294.3(BRCA1):c.4910C>T (p.Pro1637Leu) 80357048 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41223021 41223021 G A 69981 single nucleotide variant NM_007294.3(BRCA1):c.4910C>T (p.Pro1637Leu) 80357048 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43071004 43071004 G A 69982 deletion NM_007294.3(BRCA1):c.4910delC (p.Pro1637Glnfs) 397509204 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223021 41223021 G - 69983 single nucleotide variant NM_007294.3(BRCA1):c.4921G>A (p.Ala1641Thr) 1800726 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41223010 41223010 C T 69983 single nucleotide variant NM_007294.3(BRCA1):c.4921G>A (p.Ala1641Thr) 1800726 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43070993 43070993 C T 69984 single nucleotide variant NM_007294.3(BRCA1):c.4930G>T (p.Glu1644Ter) 397509205 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41223001 41223001 C A 69984 single nucleotide variant NM_007294.3(BRCA1):c.4930G>T (p.Glu1644Ter) 397509205 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43070984 43070984 C A 69985 single nucleotide variant NM_007294.3(BRCA1):c.4931A>G (p.Glu1644Gly) 80357016 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41223000 41223000 T C 69985 single nucleotide variant NM_007294.3(BRCA1):c.4931A>G (p.Glu1644Gly) 80357016 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43070983 43070983 T C 69986 single nucleotide variant NM_007294.3(BRCA1):c.4933A>G (p.Arg1645Gly) 80356926 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41222998 41222998 T C 69986 single nucleotide variant NM_007294.3(BRCA1):c.4933A>G (p.Arg1645Gly) 80356926 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43070981 43070981 T C 69987 single nucleotide variant NM_007294.3(BRCA1):c.4934G>T (p.Arg1645Met) 70953661 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41222997 41222997 C A 69987 single nucleotide variant NM_007294.3(BRCA1):c.4934G>T (p.Arg1645Met) 70953661 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43070980 43070980 C A 69988 single nucleotide variant NM_007294.3(BRCA1):c.4935G>C (p.Arg1645Ser) 80357373 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41222996 41222996 C G 69988 single nucleotide variant NM_007294.3(BRCA1):c.4935G>C (p.Arg1645Ser) 80357373 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43070979 43070979 C G 70010 single nucleotide variant NM_007294.3(BRCA1):c.4986+5G>T 397509211 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41222940 41222940 C A 69989 deletion NM_007294.3(BRCA1):c.4936delG (p.Val1646Serfs) 80357653 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41222995 41222995 C - 69989 deletion NM_007294.3(BRCA1):c.4936delG (p.Val1646Serfs) 80357653 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43070978 43070978 C - 69990 deletion NM_007294.3(BRCA1):c.493_494delCT (p.Leu165Glufs) 397509206 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41251845 41251846 AG - 69990 deletion NM_007294.3(BRCA1):c.493_494delCT (p.Leu165Glufs) 397509206 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43099828 43099829 AG - 69991 deletion NM_007294.3(BRCA1):c.493delC (p.Leu165Terfs) 80357551 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41251846 41251846 G - 69991 deletion NM_007294.3(BRCA1):c.493delC (p.Leu165Terfs) 80357551 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43099829 43099829 G - 69992 single nucleotide variant NM_007294.3(BRCA1):c.4941C>A (p.Asn1647Lys) 80357302 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41222990 41222990 G T 69992 single nucleotide variant NM_007294.3(BRCA1):c.4941C>A (p.Asn1647Lys) 80357302 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43070973 43070973 G T 69993 deletion NM_007294.3(BRCA1):c.4941delC (p.Asn1647Lysfs) 80357905 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41222990 41222990 G - 69993 deletion NM_007294.3(BRCA1):c.4941delC (p.Asn1647Lysfs) 80357905 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43070973 43070973 G - 69994 indel NM_007294.3(BRCA1):c.4945_4947delAGAinsTTTT (p.Arg1649Phefs) 397509207 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41222984 41222986 TCT AAAA 69994 indel NM_007294.3(BRCA1):c.4945_4947delAGAinsTTTT (p.Arg1649Phefs) 397509207 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43070967 43070969 TCT AAAA 69995 deletion NM_007294.3(BRCA1):c.4945delA (p.Arg1649Glufs) 80357761 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 41222986 41222986 T - 69995 deletion NM_007294.3(BRCA1):c.4945delA (p.Arg1649Glufs) 80357761 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 43070969 43070969 T - 69996 duplication NM_007294.3(BRCA1):c.494dupT (p.Arg166Glufs) 80357762 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41251845 41251845 A AA 69996 duplication NM_007294.3(BRCA1):c.494dupT (p.Arg166Glufs) 80357762 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43099828 43099828 A AA 69997 single nucleotide variant NM_007294.3(BRCA1):c.4952C>T (p.Ser1651Phe) 80356938 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41222979 41222979 G A 69997 single nucleotide variant NM_007294.3(BRCA1):c.4952C>T (p.Ser1651Phe) 80356938 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43070962 43070962 G A 69998 single nucleotide variant NM_007294.3(BRCA1):c.4957G>A (p.Val1653Met) 80357261 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41222974 41222974 C T 69998 single nucleotide variant NM_007294.3(BRCA1):c.4957G>A (p.Val1653Met) 80357261 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43070957 43070957 C T 69999 deletion NM_007294.3:c.4963_4981delTGGCCTGACCCCAGAAG -1 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 na -1 -1 na na 70000 single nucleotide variant NM_007294.3(BRCA1):c.4964C>T (p.Ser1655Phe) 80357390 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41222967 41222967 G A 70000 single nucleotide variant NM_007294.3(BRCA1):c.4964C>T (p.Ser1655Phe) 80357390 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43070950 43070950 G A 70001 deletion NM_007294.3(BRCA1):c.4964_4979del16 (p.Ser1655Terfs) 397509209 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41222952 41222967 na na 70001 deletion NM_007294.3(BRCA1):c.4964_4979del16 (p.Ser1655Terfs) 397509209 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43070935 43070950 na na 70002 deletion NM_007294.3:c.4964_4982delGGCCTGACCCCAGAAGA -1 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 na -1 -1 na na 70003 deletion NM_007294.3:c.4966_4984delCCTGACCCCAGAAGAAT -1 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 na -1 -1 na na 70004 single nucleotide variant NM_007294.3(BRCA1):c.4967G>A (p.Gly1656Asp) 80357414 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41222964 41222964 C T 70004 single nucleotide variant NM_007294.3(BRCA1):c.4967G>A (p.Gly1656Asp) 80357414 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43070947 43070947 C T 70005 single nucleotide variant NM_007294.3(BRCA1):c.4981G>T (p.Glu1661Ter) 80357401 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41222950 41222950 C A 70005 single nucleotide variant NM_007294.3(BRCA1):c.4981G>T (p.Glu1661Ter) 80357401 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43070933 43070933 C A 70006 single nucleotide variant NM_007294.3(BRCA1):c.4985T>C (p.Phe1662Ser) 28897695 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41222946 41222946 A G 70006 single nucleotide variant NM_007294.3(BRCA1):c.4985T>C (p.Phe1662Ser) 28897695 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43070929 43070929 A G 70007 single nucleotide variant NM_007294.3(BRCA1):c.4986+2T>C 397509210 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41222943 41222943 A G 70007 single nucleotide variant NM_007294.3(BRCA1):c.4986+2T>C 397509210 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43070926 43070926 A G 70008 single nucleotide variant NM_007294.3(BRCA1):c.4986+3G>C 80358023 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41222942 41222942 C G 70008 single nucleotide variant NM_007294.3(BRCA1):c.4986+3G>C 80358023 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43070925 43070925 C G 70009 single nucleotide variant NM_007294.3(BRCA1):c.4986+4A>T 80358087 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41222941 41222941 T A 70009 single nucleotide variant NM_007294.3(BRCA1):c.4986+4A>T 80358087 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43070924 43070924 T A 70011 single nucleotide variant NM_007294.3(BRCA1):c.4986+6T>G 80358086 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41222939 41222939 A C 70011 single nucleotide variant NM_007294.3(BRCA1):c.4986+6T>G 80358086 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43070922 43070922 A C 70012 single nucleotide variant NM_007294.3(BRCA1):c.4987-2A>G 397509212 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41219714 41219714 T C 70012 single nucleotide variant NM_007294.3(BRCA1):c.4987-2A>G 397509212 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43067697 43067697 T C 70013 single nucleotide variant NM_007294.3(BRCA1):c.4987-3C>G 397509213 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41219715 41219715 G C 70013 single nucleotide variant NM_007294.3(BRCA1):c.4987-3C>G 397509213 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43067698 43067698 G C 70014 single nucleotide variant NM_007294.3(BRCA1):c.4987-5T>A 397509214 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41219717 41219717 A T 70014 single nucleotide variant NM_007294.3(BRCA1):c.4987-5T>A 397509214 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43067700 43067700 A T 70015 single nucleotide variant NM_007294.3(BRCA1):c.4987A>T (p.Met1663Leu) 80357117 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41219712 41219712 T A 70015 single nucleotide variant NM_007294.3(BRCA1):c.4987A>T (p.Met1663Leu) 80357117 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43067695 43067695 T A 70016 single nucleotide variant NM_007294.3(BRCA1):c.4988T>A (p.Met1663Lys) 80357205 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 41219711 41219711 A T 70016 single nucleotide variant NM_007294.3(BRCA1):c.4988T>A (p.Met1663Lys) 80357205 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 43067694 43067694 A T 70051 deletion NM_007294.3(BRCA1):c.5075_5078delATGC (p.Asp1692Valfs) 397509223 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215965 41215968 GCAT - 70017 single nucleotide variant NM_007294.3(BRCA1):c.4993G>A (p.Val1665Met) 80357169 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41219706 41219706 C T 70017 single nucleotide variant NM_007294.3(BRCA1):c.4993G>A (p.Val1665Met) 80357169 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43067689 43067689 C T 70018 single nucleotide variant NM_007294.3(BRCA1):c.4996T>C (p.Tyr1666His) 397509215 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41219703 41219703 A G 70018 single nucleotide variant NM_007294.3(BRCA1):c.4996T>C (p.Tyr1666His) 397509215 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43067686 43067686 A G 70019 single nucleotide variant NM_007294.3(BRCA1):c.4997A>G (p.Tyr1666Cys) 397509216 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41219702 41219702 T C 70019 single nucleotide variant NM_007294.3(BRCA1):c.4997A>G (p.Tyr1666Cys) 397509216 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43067685 43067685 T C 70020 single nucleotide variant NM_007294.3(BRCA1):c.4999A>T (p.Lys1667Ter) 80357204 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41219700 41219700 T A 70020 single nucleotide variant NM_007294.3(BRCA1):c.4999A>T (p.Lys1667Ter) 80357204 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43067683 43067683 T A 70021 deletion NM_007294.3(BRCA1):c.5005delG (p.Ala1669Profs) 80357938 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41219694 41219694 C - 70021 deletion NM_007294.3(BRCA1):c.5005delG (p.Ala1669Profs) 80357938 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43067677 43067677 C - 70022 deletion NM_007294.3(BRCA1):c.5017_5019delCAC (p.His1673del) 80358343 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41219680 41219682 GTG - 70022 deletion NM_007294.3(BRCA1):c.5017_5019delCAC (p.His1673del) 80358343 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43067663 43067665 GTG - 70023 deletion NM_007294.3(BRCA1):c.5026_5036delTTAACTAATCT (p.Leu1676Asnfs) 80357894 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41219663 41219673 AGATTAGTTAA - 70023 deletion NM_007294.3(BRCA1):c.5026_5036delTTAACTAATCT (p.Leu1676Asnfs) 80357894 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43067646 43067656 AGATTAGTTAA - 70024 duplication NM_007294.3(BRCA1):c.5027dupT (p.Leu1676Phefs) 397509217 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41219672 41219672 A AA 70024 duplication NM_007294.3(BRCA1):c.5027dupT (p.Leu1676Phefs) 397509217 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43067655 43067655 A AA 70025 deletion NM_007294.3(BRCA1):c.5035delC (p.Leu1679Terfs) 80357896 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 41219664 41219664 G - 70025 deletion NM_007294.3(BRCA1):c.5035delC (p.Leu1679Terfs) 80357896 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 43067647 43067647 G - 70026 single nucleotide variant NM_007294.3(BRCA1):c.503A>C (p.Lys168Thr) 273901743 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41251836 41251836 T G 70026 single nucleotide variant NM_007294.3(BRCA1):c.503A>C (p.Lys168Thr) 273901743 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43099819 43099819 T G 70027 deletion NM_007294.3(BRCA1):c.5040delT (p.Thr1681Leufs) 80357673 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41219659 41219659 A - 70027 deletion NM_007294.3(BRCA1):c.5040delT (p.Thr1681Leufs) 80357673 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43067642 43067642 A - 70028 single nucleotide variant NM_007294.3(BRCA1):c.5044G>A (p.Glu1682Lys) 80356958 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41219655 41219655 C T 70028 single nucleotide variant NM_007294.3(BRCA1):c.5044G>A (p.Glu1682Lys) 80356958 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43067638 43067638 C T 70029 single nucleotide variant NM_007294.3(BRCA1):c.5045A>T (p.Glu1682Val) 80357265 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41219654 41219654 T A 70029 single nucleotide variant NM_007294.3(BRCA1):c.5045A>T (p.Glu1682Val) 80357265 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43067637 43067637 T A 70030 single nucleotide variant NM_007294.3(BRCA1):c.5047G>T (p.Glu1683Ter) 80356879 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41219652 41219652 C A 70030 single nucleotide variant NM_007294.3(BRCA1):c.5047G>T (p.Glu1683Ter) 80356879 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43067635 43067635 C A 70031 single nucleotide variant NM_007294.3(BRCA1):c.5053A>G (p.Thr1685Ala) 80356890 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41219646 41219646 T C 70031 single nucleotide variant NM_007294.3(BRCA1):c.5053A>G (p.Thr1685Ala) 80356890 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43067629 43067629 T C 70032 single nucleotide variant NM_007294.3(BRCA1):c.5054C>T (p.Thr1685Ile) 80357043 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41219645 41219645 G A 70032 single nucleotide variant NM_007294.3(BRCA1):c.5054C>T (p.Thr1685Ile) 80357043 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43067628 43067628 G A 70033 single nucleotide variant NM_007294.3(BRCA1):c.5058T>A (p.His1686Gln) 397509218 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41219641 41219641 A T 70033 single nucleotide variant NM_007294.3(BRCA1):c.5058T>A (p.His1686Gln) 397509218 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43067624 43067624 A T 70034 single nucleotide variant NM_007294.3(BRCA1):c.505C>T (p.Gln169Ter) 80357133 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41251834 41251834 G A 70034 single nucleotide variant NM_007294.3(BRCA1):c.505C>T (p.Gln169Ter) 80357133 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43099817 43099817 G A 70035 deletion NM_007294.3(BRCA1):c.5062_5064delGTT (p.Val1688del) 80358344 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41219635 41219637 AAC - 70035 deletion NM_007294.3(BRCA1):c.5062_5064delGTT (p.Val1688del) 80358344 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43067618 43067620 AAC - 70036 single nucleotide variant NM_007294.3(BRCA1):c.5066T>C (p.Met1689Thr) 80357061 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41219633 41219633 A G 70036 single nucleotide variant NM_007294.3(BRCA1):c.5066T>C (p.Met1689Thr) 80357061 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43067616 43067616 A G 70037 single nucleotide variant NM_007294.3(BRCA1):c.5068A>C (p.Lys1690Gln) 397507239 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41219631 41219631 T G 70037 single nucleotide variant NM_007294.3(BRCA1):c.5068A>C (p.Lys1690Gln) 397507239 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43067614 43067614 T G 70038 single nucleotide variant NM_007294.3(BRCA1):c.5071A>G (p.Thr1691Ala) 397509219 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 41219628 41219628 T C 70038 single nucleotide variant NM_007294.3(BRCA1):c.5071A>G (p.Thr1691Ala) 397509219 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 43067611 43067611 T C 70039 duplication NM_007294.3(BRCA1):c.5071dupA (p.Thr1691Asnfs) 80357672 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41219628 41219628 T TT 70039 duplication NM_007294.3(BRCA1):c.5071dupA (p.Thr1691Asnfs) 80357672 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43067611 43067611 T TT 70040 single nucleotide variant NM_007294.3(BRCA1):c.5072C>G (p.Thr1691Arg) 80357034 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41219627 41219627 G C 70040 single nucleotide variant NM_007294.3(BRCA1):c.5072C>G (p.Thr1691Arg) 80357034 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43067610 43067610 G C 70041 single nucleotide variant NM_007294.3(BRCA1):c.5073A>G (p.Thr1691=) 80356853 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 41219626 41219626 T C 70041 single nucleotide variant NM_007294.3(BRCA1):c.5073A>G (p.Thr1691=) 80356853 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 43067609 43067609 T C 70042 single nucleotide variant NM_007294.3(BRCA1):c.5074+3A>G 80358181 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41219622 41219622 T C 70042 single nucleotide variant NM_007294.3(BRCA1):c.5074+3A>G 80358181 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43067605 43067605 T C 70043 single nucleotide variant NM_007294.3(BRCA1):c.5074G>T (p.Asp1692Tyr) 80187739 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41219625 41219625 C A 70043 single nucleotide variant NM_007294.3(BRCA1):c.5074G>T (p.Asp1692Tyr) 80187739 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43067608 43067608 C A 70044 single nucleotide variant NM_007294.3(BRCA1):c.5075-1G>A 1800747 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215969 41215969 C T 70044 single nucleotide variant NM_007294.3(BRCA1):c.5075-1G>A 1800747 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063952 43063952 C T 70045 single nucleotide variant NM_007294.3(BRCA1):c.5075-1G>T 1800747 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215969 41215969 C A 70045 single nucleotide variant NM_007294.3(BRCA1):c.5075-1G>T 1800747 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063952 43063952 C A 70046 single nucleotide variant NM_007294.3(BRCA1):c.5075-2A>C 80358066 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215970 41215970 T G 70046 single nucleotide variant NM_007294.3(BRCA1):c.5075-2A>C 80358066 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063953 43063953 T G 70047 single nucleotide variant NM_007294.3(BRCA1):c.5075-2A>T 80358066 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215970 41215970 T A 70047 single nucleotide variant NM_007294.3(BRCA1):c.5075-2A>T 80358066 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063953 43063953 T A 70048 single nucleotide variant NM_007294.3(BRCA1):c.5075-4G>A 397509220 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215972 41215972 C T 70048 single nucleotide variant NM_007294.3(BRCA1):c.5075-4G>A 397509220 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063955 43063955 C T 70049 single nucleotide variant NM_007294.3(BRCA1):c.5075-8T>G 397509221 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215976 41215976 A C 70049 single nucleotide variant NM_007294.3(BRCA1):c.5075-8T>G 397509221 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063959 43063959 A C 70050 single nucleotide variant NM_007294.3(BRCA1):c.5075A>T (p.Asp1692Val) 397509222 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215968 41215968 T A 70050 single nucleotide variant NM_007294.3(BRCA1):c.5075A>T (p.Asp1692Val) 397509222 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063951 43063951 T A 70052 indel NM_007294.3(BRCA1):c.5077_5080delGCTGinsTTCATTCTGC (p.Ala1693_Glu1694delinsPheIleLeuGln) 397509224 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215963 41215966 CAGC GCAGAATGAA 70052 indel NM_007294.3(BRCA1):c.5077_5080delGCTGinsTTCATTCTGC (p.Ala1693_Glu1694delinsPheIleLeuGln) 397509224 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063946 43063949 CAGC GCAGAATGAA 70053 deletion NM_007294.3(BRCA1):c.5078_5080delCTG (p.Ala1693del) 80358345 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41215963 41215965 CAG - 70053 deletion NM_007294.3(BRCA1):c.5078_5080delCTG (p.Ala1693del) 80358345 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43063946 43063948 CAG - 70054 single nucleotide variant NM_007294.3(BRCA1):c.5080G>T (p.Glu1694Ter) 80356896 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN221809 17 41215963 41215963 C A 70054 single nucleotide variant NM_007294.3(BRCA1):c.5080G>T (p.Glu1694Ter) 80356896 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN221809 17 43063946 43063946 C A 70055 deletion NM_007294.3(BRCA1):c.5084_5085delTT (p.Phe1695Cysfs) 80357760 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215958 41215959 AA - 70055 deletion NM_007294.3(BRCA1):c.5084_5085delTT (p.Phe1695Cysfs) 80357760 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063941 43063942 AA - 70056 single nucleotide variant NM_007294.3(BRCA1):c.5085T>A (p.Phe1695Leu) 80357387 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215958 41215958 A T 70056 single nucleotide variant NM_007294.3(BRCA1):c.5085T>A (p.Phe1695Leu) 80357387 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063941 43063941 A T 70057 single nucleotide variant NM_007294.3(BRCA1):c.5086G>C (p.Val1696Leu) 80357125 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215957 41215957 C G 70057 single nucleotide variant NM_007294.3(BRCA1):c.5086G>C (p.Val1696Leu) 80357125 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063940 43063940 C G 70058 single nucleotide variant NM_007294.3(BRCA1):c.5087T>A (p.Val1696Glu) 397509226 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215956 41215956 A T 70058 single nucleotide variant NM_007294.3(BRCA1):c.5087T>A (p.Val1696Glu) 397509226 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063939 43063939 A T 70059 single nucleotide variant NM_007294.3(BRCA1):c.5089T>C (p.Cys1697Arg) 80356993 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41215954 41215954 A G 70059 single nucleotide variant NM_007294.3(BRCA1):c.5089T>C (p.Cys1697Arg) 80356993 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43063937 43063937 A G 70060 single nucleotide variant NM_007294.3(BRCA1):c.508C>T (p.Arg170Trp) 80357325 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41251831 41251831 G A 70060 single nucleotide variant NM_007294.3(BRCA1):c.508C>T (p.Arg170Trp) 80357325 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43099814 43099814 G A 70061 deletion NM_007294.3(BRCA1):c.5091_5092delTG (p.Cys1697Terfs) 80357710 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215951 41215952 CA - 70061 deletion NM_007294.3(BRCA1):c.5091_5092delTG (p.Cys1697Terfs) 80357710 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063934 43063935 CA - 70062 single nucleotide variant NM_007294.3(BRCA1):c.5095C>A (p.Arg1699=) 55770810 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41215948 41215948 G T 70062 single nucleotide variant NM_007294.3(BRCA1):c.5095C>A (p.Arg1699=) 55770810 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43063931 43063931 G T 70063 single nucleotide variant NM_007294.3(BRCA1):c.5095C>T (p.Arg1699Trp) 55770810 MedGen:CN221560;MedGen:C2676676,OMIM:604370;MedGen:C3469521,OMIM:227650;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1140680;MedGen:CN221809 17 41215948 41215948 G A 70063 single nucleotide variant NM_007294.3(BRCA1):c.5095C>T (p.Arg1699Trp) 55770810 MedGen:CN221560;MedGen:C2676676,OMIM:604370;MedGen:C3469521,OMIM:227650;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1140680;MedGen:CN221809 17 43063931 43063931 G A 70064 single nucleotide variant NM_007294.3(BRCA1):c.5096G>C (p.Arg1699Pro) 41293459 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215947 41215947 C G 70064 single nucleotide variant NM_007294.3(BRCA1):c.5096G>C (p.Arg1699Pro) 41293459 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063930 43063930 C G 70065 single nucleotide variant NM_007294.3(BRCA1):c.5096G>T (p.Arg1699Leu) 41293459 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215947 41215947 C A 70065 single nucleotide variant NM_007294.3(BRCA1):c.5096G>T (p.Arg1699Leu) 41293459 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063930 43063930 C A 70066 single nucleotide variant NM_007294.3(BRCA1):c.5098A>G (p.Thr1700Ala) 397509227 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215945 41215945 T C 70066 single nucleotide variant NM_007294.3(BRCA1):c.5098A>G (p.Thr1700Ala) 397509227 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063928 43063928 T C 70067 single nucleotide variant NM_007294.3(BRCA1):c.509G>A (p.Arg170Gln) 80357264 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41251830 41251830 C T 70067 single nucleotide variant NM_007294.3(BRCA1):c.509G>A (p.Arg170Gln) 80357264 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43099813 43099813 C T 70068 deletion NM_007294.3(BRCA1):c.5102_5103delTG (p.Leu1701Glnfs) 80357608 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215940 41215941 CA - 70068 deletion NM_007294.3(BRCA1):c.5102_5103delTG (p.Leu1701Glnfs) 80357608 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063923 43063924 CA - 70069 deletion NM_007294.3(BRCA1):c.5106delA (p.Lys1702Asnfs) 80357553 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41215937 41215937 T - 70069 deletion NM_007294.3(BRCA1):c.5106delA (p.Lys1702Asnfs) 80357553 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43063920 43063920 T - 70070 single nucleotide variant NM_007294.3(BRCA1):c.5109T>G (p.Tyr1703Ter) 80356974 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41215934 41215934 A C 70070 single nucleotide variant NM_007294.3(BRCA1):c.5109T>G (p.Tyr1703Ter) 80356974 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43063917 43063917 A C 70071 deletion NM_007294.3(BRCA1):c.5112delT (p.Leu1705Terfs) 397509228 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41215931 41215931 A - 70071 deletion NM_007294.3(BRCA1):c.5112delT (p.Leu1705Terfs) 397509228 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43063914 43063914 A - 70072 single nucleotide variant NM_007294.3(BRCA1):c.5113C>T (p.Leu1705=) 80356858 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215930 41215930 G A 70072 single nucleotide variant NM_007294.3(BRCA1):c.5113C>T (p.Leu1705=) 80356858 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063913 43063913 G A 70073 single nucleotide variant NM_007294.3(BRCA1):c.5117G>C (p.Gly1706Ala) 80356860 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41215926 41215926 C G 70073 single nucleotide variant NM_007294.3(BRCA1):c.5117G>C (p.Gly1706Ala) 80356860 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43063909 43063909 C G 70074 single nucleotide variant NM_007294.3(BRCA1):c.5123C>A (p.Ala1708Glu) 28897696 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41215920 41215920 G T 70074 single nucleotide variant NM_007294.3(BRCA1):c.5123C>A (p.Ala1708Glu) 28897696 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43063903 43063903 G T 70075 deletion NM_007294.3(BRCA1):c.5126delG (p.Gly1709Glufs) 80357874 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215917 41215917 C - 70075 deletion NM_007294.3(BRCA1):c.5126delG (p.Gly1709Glufs) 80357874 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063900 43063900 C - 70076 single nucleotide variant NM_007294.3(BRCA1):c.5128G>T (p.Gly1710Ter) 397509229 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215915 41215915 C A 70076 single nucleotide variant NM_007294.3(BRCA1):c.5128G>T (p.Gly1710Ter) 397509229 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063898 43063898 C A 70077 single nucleotide variant NM_007294.3(BRCA1):c.5136G>A (p.Trp1712Ter) 80357418 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41215907 41215907 C T 70077 single nucleotide variant NM_007294.3(BRCA1):c.5136G>A (p.Trp1712Ter) 80357418 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43063890 43063890 C T 70078 deletion NM_007294.3(BRCA1):c.5137delG (p.Val1713Terfs) 80357997 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41215906 41215906 C - 70078 deletion NM_007294.3(BRCA1):c.5137delG (p.Val1713Terfs) 80357997 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43063889 43063889 C - 70079 single nucleotide variant NM_007294.3(BRCA1):c.5138T>C (p.Val1713Ala) 80357132 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41215905 41215905 A G 70079 single nucleotide variant NM_007294.3(BRCA1):c.5138T>C (p.Val1713Ala) 80357132 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43063888 43063888 A G 70080 single nucleotide variant NM_007294.3(BRCA1):c.5141T>G (p.Val1714Gly) 80357243 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41215902 41215902 A C 70080 single nucleotide variant NM_007294.3(BRCA1):c.5141T>G (p.Val1714Gly) 80357243 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43063885 43063885 A C 70081 single nucleotide variant NM_007294.3(BRCA1):c.5143A>C (p.Ser1715Arg) 80357222 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215900 41215900 T G 70081 single nucleotide variant NM_007294.3(BRCA1):c.5143A>C (p.Ser1715Arg) 80357222 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063883 43063883 T G 70082 single nucleotide variant NM_007294.3(BRCA1):c.5143A>T (p.Ser1715Cys) 80357222 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41215900 41215900 T A 70082 single nucleotide variant NM_007294.3(BRCA1):c.5143A>T (p.Ser1715Cys) 80357222 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43063883 43063883 T A 70083 single nucleotide variant NM_007294.3(BRCA1):c.5144G>A (p.Ser1715Asn) 45444999 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215899 41215899 C T 70083 single nucleotide variant NM_007294.3(BRCA1):c.5144G>A (p.Ser1715Asn) 45444999 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063882 43063882 C T 70084 single nucleotide variant NM_007294.3(BRCA1):c.5145C>A (p.Ser1715Arg) 80357094 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215898 41215898 G T 70084 single nucleotide variant NM_007294.3(BRCA1):c.5145C>A (p.Ser1715Arg) 80357094 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063881 43063881 G T 70085 single nucleotide variant NM_007294.3(BRCA1):c.5145C>G (p.Ser1715Arg) 80357094 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215898 41215898 G C 70085 single nucleotide variant NM_007294.3(BRCA1):c.5145C>G (p.Ser1715Arg) 80357094 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063881 43063881 G C 70086 single nucleotide variant NM_007294.3(BRCA1):c.5148T>G (p.Tyr1716Ter) 397509230 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215895 41215895 A C 70086 single nucleotide variant NM_007294.3(BRCA1):c.5148T>G (p.Tyr1716Ter) 397509230 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063878 43063878 A C 70087 single nucleotide variant NM_007294.3(BRCA1):c.514C>T (p.Gln172Ter) 80356947 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41251825 41251825 G A 70087 single nucleotide variant NM_007294.3(BRCA1):c.514C>T (p.Gln172Ter) 80356947 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43099808 43099808 G A 70088 deletion NM_007294.3(BRCA1):c.514delC (p.Gln172Asnfs) 80357872 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41251825 41251825 G - 70088 deletion NM_007294.3(BRCA1):c.514delC (p.Gln172Asnfs) 80357872 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43099808 43099808 G - 70089 deletion NM_007294.3(BRCA1):c.5150delT (p.Phe1717Serfs) 80357720 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215893 41215893 A - 70089 deletion NM_007294.3(BRCA1):c.5150delT (p.Phe1717Serfs) 80357720 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063876 43063876 A - 70090 single nucleotide variant NM_007294.3(BRCA1):c.5152+1G>T 80358094 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41215890 41215890 C A 70090 single nucleotide variant NM_007294.3(BRCA1):c.5152+1G>T 80358094 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43063873 43063873 C A 70091 duplication NM_007294.3(BRCA1):c.5152+2dupT 397509231 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41215889 41215889 A AA 70091 duplication NM_007294.3(BRCA1):c.5152+2dupT 397509231 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43063872 43063872 A AA 70092 single nucleotide variant NM_007294.3(BRCA1):c.5152+3A>C 80358124 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215888 41215888 T G 70092 single nucleotide variant NM_007294.3(BRCA1):c.5152+3A>C 80358124 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063871 43063871 T G 70093 single nucleotide variant NM_007294.3(BRCA1):c.5152+4A>G 397509232 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215887 41215887 T C 70093 single nucleotide variant NM_007294.3(BRCA1):c.5152+4A>G 397509232 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063870 43063870 T C 70094 single nucleotide variant NM_007294.3(BRCA1):c.5152+5G>A 80358165 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215886 41215886 C T 70094 single nucleotide variant NM_007294.3(BRCA1):c.5152+5G>A 80358165 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063869 43063869 C T 70095 single nucleotide variant NM_007294.3(BRCA1):c.5152+66G>A 3092994 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 41215825 41215825 C T 70095 single nucleotide variant NM_007294.3(BRCA1):c.5152+66G>A 3092994 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 43063808 43063808 C T 70096 single nucleotide variant NM_007294.3(BRCA1):c.5153-1G>A 80358137 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215391 41215391 C T 70096 single nucleotide variant NM_007294.3(BRCA1):c.5153-1G>A 80358137 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063374 43063374 C T 70097 single nucleotide variant NM_007294.3(BRCA1):c.5153-1G>T 80358137 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215391 41215391 C A 70097 single nucleotide variant NM_007294.3(BRCA1):c.5153-1G>T 80358137 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063374 43063374 C A 70098 deletion NM_007294.3(BRCA1):c.5153-2delA 273901746 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41215392 41215392 T - 70098 deletion NM_007294.3(BRCA1):c.5153-2delA 273901746 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43063375 43063375 T - 70099 single nucleotide variant NM_007294.3(BRCA1):c.5153G>A (p.Trp1718Ter) 41293461 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41215390 41215390 C T 70099 single nucleotide variant NM_007294.3(BRCA1):c.5153G>A (p.Trp1718Ter) 41293461 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43063373 43063373 C T 70100 single nucleotide variant NM_007294.3(BRCA1):c.5153G>C (p.Trp1718Ser) 41293461 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215390 41215390 C G 70100 single nucleotide variant NM_007294.3(BRCA1):c.5153G>C (p.Trp1718Ser) 41293461 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063373 43063373 C G 70101 single nucleotide variant NM_007294.3(BRCA1):c.5154G>A (p.Trp1718Ter) 80357239 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41215389 41215389 C T 70101 single nucleotide variant NM_007294.3(BRCA1):c.5154G>A (p.Trp1718Ter) 80357239 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43063372 43063372 C T 70331 insertion NM_007294.3(BRCA1):c.677_678insC (p.Glu227Terfs) 397509307 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246870 41246871 - G 70102 single nucleotide variant NM_007294.3(BRCA1):c.5154G>T (p.Trp1718Cys) 80357239 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41215389 41215389 C A 70102 single nucleotide variant NM_007294.3(BRCA1):c.5154G>T (p.Trp1718Cys) 80357239 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43063372 43063372 C A 70103 deletion NM_007294.3(BRCA1):c.5155delG (p.Val1719Terfs) 80357743 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215388 41215388 C - 70103 deletion NM_007294.3(BRCA1):c.5155delG (p.Val1719Terfs) 80357743 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063371 43063371 C - 70104 deletion NM_007294.3(BRCA1):c.5156_5157delTG (p.Val1719Aspfs) 80357895 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215386 41215387 CA - 70104 deletion NM_007294.3(BRCA1):c.5156_5157delTG (p.Val1719Aspfs) 80357895 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063369 43063370 CA - 70105 single nucleotide variant NM_007294.3(BRCA1):c.5158A>G (p.Thr1720Ala) 56195342 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41215385 41215385 T C 70105 single nucleotide variant NM_007294.3(BRCA1):c.5158A>G (p.Thr1720Ala) 56195342 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43063368 43063368 T C 70106 deletion NM_007294.3(BRCA1):c.5161_5163delCAG (p.Gln1721del) 80358346 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215380 41215382 CTG - 70106 deletion NM_007294.3(BRCA1):c.5161_5163delCAG (p.Gln1721del) 80358346 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063363 43063365 CTG - 70107 deletion NM_007294.3(BRCA1):c.5162delA (p.Gln1721Argfs) 397509233 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215381 41215381 T - 70107 deletion NM_007294.3(BRCA1):c.5162delA (p.Gln1721Argfs) 397509233 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063364 43063364 T - 70331 insertion NM_007294.3(BRCA1):c.677_678insC (p.Glu227Terfs) 397509307 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094853 43094854 - G 70108 single nucleotide variant NM_007294.3(BRCA1):c.5165C>T (p.Ser1722Phe) 80357104 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41215378 41215378 G A 70108 single nucleotide variant NM_007294.3(BRCA1):c.5165C>T (p.Ser1722Phe) 80357104 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43063361 43063361 G A 70109 single nucleotide variant NM_007294.3(BRCA1):c.5173G>T (p.Glu1725Ter) 80357291 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215370 41215370 C A 70109 single nucleotide variant NM_007294.3(BRCA1):c.5173G>T (p.Glu1725Ter) 80357291 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063353 43063353 C A 70110 single nucleotide variant NM_007294.3(BRCA1):c.5176A>G (p.Arg1726Gly) 80357501 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41215367 41215367 T C 70110 single nucleotide variant NM_007294.3(BRCA1):c.5176A>G (p.Arg1726Gly) 80357501 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43063350 43063350 T C 70111 deletion NM_007294.3(BRCA1):c.5177_5178delGA (p.Arg1726Lysfs) 80357730 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215365 41215366 TC - 70111 deletion NM_007294.3(BRCA1):c.5177_5178delGA (p.Arg1726Lysfs) 80357730 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063348 43063349 TC - 70112 deletion NM_007294.3(BRCA1):c.5179_5192delAAAATGCTGAATGA (p.Lys1727Alafs) 397509234 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215351 41215364 TCATTCAGCATTTT - 70112 deletion NM_007294.3(BRCA1):c.5179_5192delAAAATGCTGAATGA (p.Lys1727Alafs) 397509234 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063334 43063347 TCATTCAGCATTTT - 70113 deletion NM_007294.3(BRCA1):c.5182delA (p.Met1728Cysfs) 397509235 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215361 41215361 T - 70113 deletion NM_007294.3(BRCA1):c.5182delA (p.Met1728Cysfs) 397509235 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063344 43063344 T - 70114 single nucleotide variant NM_007294.3(BRCA1):c.5189A>G (p.Asn1730Ser) 80357171 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41215354 41215354 T C 70114 single nucleotide variant NM_007294.3(BRCA1):c.5189A>G (p.Asn1730Ser) 80357171 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43063337 43063337 T C 70115 single nucleotide variant NM_007294.3(BRCA1):c.5193+1G>C 80358004 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41215349 41215349 C G 70115 single nucleotide variant NM_007294.3(BRCA1):c.5193+1G>C 80358004 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43063332 43063332 C G 70116 deletion NM_007294.3(BRCA1):c.5193+1delG 397509236 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215349 41215349 C - 70116 deletion NM_007294.3(BRCA1):c.5193+1delG 397509236 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063332 43063332 C - 70117 deletion NM_007294.3(BRCA1):c.5193+2delT 273901751 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41215348 41215348 A - 70117 deletion NM_007294.3(BRCA1):c.5193+2delT 273901751 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43063331 43063331 A - 70118 single nucleotide variant NM_007294.3(BRCA1):c.5194-12G>A 80358079 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209164 41209164 C T 70118 single nucleotide variant NM_007294.3(BRCA1):c.5194-12G>A 80358079 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057147 43057147 C T 70119 single nucleotide variant NM_007294.3(BRCA1):c.5194-2A>C 80358069 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209154 41209154 T G 70119 single nucleotide variant NM_007294.3(BRCA1):c.5194-2A>C 80358069 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057137 43057137 T G 70120 single nucleotide variant NM_007294.3(BRCA1):c.5198A>G (p.Asp1733Gly) 80357270 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41209148 41209148 T C 70353 duplication NM_007294.3(BRCA1):c.742dupA (p.Thr248Asnfs) 397509314 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246806 41246806 T TT 70120 single nucleotide variant NM_007294.3(BRCA1):c.5198A>G (p.Asp1733Gly) 80357270 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43057131 43057131 T C 70121 single nucleotide variant NM_007294.3(BRCA1):c.5201T>C (p.Phe1734Ser) 397509237 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209145 41209145 A G 70121 single nucleotide variant NM_007294.3(BRCA1):c.5201T>C (p.Phe1734Ser) 397509237 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057128 43057128 A G 70122 single nucleotide variant NM_007294.3(BRCA1):c.5203G>A (p.Glu1735Lys) 397509238 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209143 41209143 C T 70122 single nucleotide variant NM_007294.3(BRCA1):c.5203G>A (p.Glu1735Lys) 397509238 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057126 43057126 C T 70123 single nucleotide variant NM_007294.3(BRCA1):c.5207T>G (p.Val1736Gly) 45553935 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209139 41209139 A C 70123 single nucleotide variant NM_007294.3(BRCA1):c.5207T>G (p.Val1736Gly) 45553935 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057122 43057122 A C 70124 deletion NM_007294.3(BRCA1):c.5207delT (p.Val1736Alafs) 397509239 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209139 41209139 A - 70124 deletion NM_007294.3(BRCA1):c.5207delT (p.Val1736Alafs) 397509239 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057122 43057122 A - 70125 single nucleotide variant NM_007294.3(BRCA1):c.5209A>T (p.Arg1737Ter) 80357496 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209137 41209137 T A 70125 single nucleotide variant NM_007294.3(BRCA1):c.5209A>T (p.Arg1737Ter) 80357496 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057120 43057120 T A 70126 indel NM_007294.3(BRCA1):c.5209_5248del40insTC (p.Arg1737Serfs) 273901753 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209098 41209137 na GA 70126 indel NM_007294.3(BRCA1):c.5209_5248del40insTC (p.Arg1737Serfs) 273901753 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057081 43057120 na GA 70127 deletion NM_007294.3(BRCA1):c.520delC (p.Gln174Lysfs) 80357639 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41251819 41251819 G - 70127 deletion NM_007294.3(BRCA1):c.520delC (p.Gln174Lysfs) 80357639 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43099802 43099802 G - 70128 single nucleotide variant NM_007294.3(BRCA1):c.5212G>A (p.Gly1738Arg) 80356937 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145 17 41209134 41209134 C T 70128 single nucleotide variant NM_007294.3(BRCA1):c.5212G>A (p.Gly1738Arg) 80356937 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145 17 43057117 43057117 C T 70129 single nucleotide variant NM_007294.3(BRCA1):c.5213G>A (p.Gly1738Glu) 80357450 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209133 41209133 C T 70129 single nucleotide variant NM_007294.3(BRCA1):c.5213G>A (p.Gly1738Glu) 80357450 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057116 43057116 C T 70130 deletion NM_007294.3(BRCA1):c.5213_5215delGAG (p.Gly1738del) 80358347 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41209131 41209133 CTC - 70130 deletion NM_007294.3(BRCA1):c.5213_5215delGAG (p.Gly1738del) 80358347 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43057114 43057116 CTC - 70131 single nucleotide variant NM_007294.3(BRCA1):c.5215G>T (p.Asp1739Tyr) 80357283 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209131 41209131 C A 70131 single nucleotide variant NM_007294.3(BRCA1):c.5215G>T (p.Asp1739Tyr) 80357283 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057114 43057114 C A 70132 single nucleotide variant NM_007294.3(BRCA1):c.5216A>G (p.Asp1739Gly) 80357227 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209130 41209130 T C 70132 single nucleotide variant NM_007294.3(BRCA1):c.5216A>G (p.Asp1739Gly) 80357227 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057113 43057113 T C 70133 single nucleotide variant NM_007294.3(BRCA1):c.5216A>T (p.Asp1739Val) 80357227 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209130 41209130 T A 70133 single nucleotide variant NM_007294.3(BRCA1):c.5216A>T (p.Asp1739Val) 80357227 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057113 43057113 T A 70134 single nucleotide variant NM_007294.3(BRCA1):c.5217T>G (p.Asp1739Glu) 80357340 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209129 41209129 A C 70134 single nucleotide variant NM_007294.3(BRCA1):c.5217T>G (p.Asp1739Glu) 80357340 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057112 43057112 A C 70135 single nucleotide variant NM_007294.3(BRCA1):c.5222T>G (p.Val1741Gly) 80357023 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209124 41209124 A C 70135 single nucleotide variant NM_007294.3(BRCA1):c.5222T>G (p.Val1741Gly) 80357023 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057107 43057107 A C 70136 deletion NM_007294.3(BRCA1):c.5229_5230delAA (p.Arg1744Lysfs) 80357852 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209116 41209117 TT - 70136 deletion NM_007294.3(BRCA1):c.5229_5230delAA (p.Arg1744Lysfs) 80357852 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057099 43057100 TT - 70137 deletion NM_007294.3(BRCA1):c.5230delA (p.Arg1744Glufs) 397509240 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41209116 41209116 T - 70137 deletion NM_007294.3(BRCA1):c.5230delA (p.Arg1744Glufs) 397509240 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43057099 43057099 T - 70138 deletion NM_007294.3(BRCA1):c.5231delG (p.Arg1744Lysfs) 397509241 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209115 41209115 C - 70138 deletion NM_007294.3(BRCA1):c.5231delG (p.Arg1744Lysfs) 397509241 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057098 43057098 C - 70139 single nucleotide variant NM_007294.3(BRCA1):c.5236C>A (p.His1746Asn) 80357146 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41209110 41209110 G T 70139 single nucleotide variant NM_007294.3(BRCA1):c.5236C>A (p.His1746Asn) 80357146 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43057093 43057093 G T 70140 single nucleotide variant NM_007294.3(BRCA1):c.5239C>T (p.Gln1747Ter) 80357367 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209107 41209107 G A 70140 single nucleotide variant NM_007294.3(BRCA1):c.5239C>T (p.Gln1747Ter) 80357367 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057090 43057090 G A 70141 single nucleotide variant NM_007294.3(BRCA1):c.5241A>C (p.Gln1747His) 397509242 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209105 41209105 T G 70141 single nucleotide variant NM_007294.3(BRCA1):c.5241A>C (p.Gln1747His) 397509242 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057088 43057088 T G 70142 single nucleotide variant NM_007294.3(BRCA1):c.5242G>A (p.Gly1748Ser) 397507245 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209104 41209104 C T 70142 single nucleotide variant NM_007294.3(BRCA1):c.5242G>A (p.Gly1748Ser) 397507245 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057087 43057087 C T 70143 single nucleotide variant NM_007294.3(BRCA1):c.5243G>A (p.Gly1748Asp) 397509243 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41209103 41209103 C T 70143 single nucleotide variant NM_007294.3(BRCA1):c.5243G>A (p.Gly1748Asp) 397509243 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43057086 43057086 C T 70144 deletion NM_007294.3(BRCA1):c.5243delG (p.Gly1748Valfs) 80357676 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209103 41209103 C - 70144 deletion NM_007294.3(BRCA1):c.5243delG (p.Gly1748Valfs) 80357676 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057086 43057086 C - 70145 single nucleotide variant NM_007294.3(BRCA1):c.5245C>G (p.Pro1749Ala) 397509244 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209101 41209101 G C 70145 single nucleotide variant NM_007294.3(BRCA1):c.5245C>G (p.Pro1749Ala) 397509244 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057084 43057084 G C 70146 single nucleotide variant NM_007294.3(BRCA1):c.5246C>G (p.Pro1749Arg) 80357462 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41209100 41209100 G C 70146 single nucleotide variant NM_007294.3(BRCA1):c.5246C>G (p.Pro1749Arg) 80357462 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43057083 43057083 G C 70147 single nucleotide variant NM_007294.3(BRCA1):c.5251C>T (p.Arg1751Ter) 80357123 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41209095 41209095 G A 70147 single nucleotide variant NM_007294.3(BRCA1):c.5251C>T (p.Arg1751Ter) 80357123 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43057078 43057078 G A 70353 duplication NM_007294.3(BRCA1):c.742dupA (p.Thr248Asnfs) 397509314 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094789 43094789 T TT 70368 single nucleotide variant NM_007294.3(BRCA1):c.788G>T (p.Gly263Val) 397509319 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246760 41246760 C A 70148 single nucleotide variant NM_007294.3(BRCA1):c.5252G>A (p.Arg1751Gln) 80357442 MedGen:CN221562;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41209094 41209094 C T 70148 single nucleotide variant NM_007294.3(BRCA1):c.5252G>A (p.Arg1751Gln) 80357442 MedGen:CN221562;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43057077 43057077 C T 70149 single nucleotide variant NM_007294.3(BRCA1):c.5252G>C (p.Arg1751Pro) 80357442 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209094 41209094 C G 70149 single nucleotide variant NM_007294.3(BRCA1):c.5252G>C (p.Arg1751Pro) 80357442 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057077 43057077 C G 70150 single nucleotide variant NM_007294.3(BRCA1):c.5254G>C (p.Ala1752Pro) 80357074 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209092 41209092 C G 70150 single nucleotide variant NM_007294.3(BRCA1):c.5254G>C (p.Ala1752Pro) 80357074 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057075 43057075 C G 70151 single nucleotide variant NM_007294.3(BRCA1):c.5255C>T (p.Ala1752Val) 80357028 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209091 41209091 G A 70151 single nucleotide variant NM_007294.3(BRCA1):c.5255C>T (p.Ala1752Val) 80357028 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057074 43057074 G A 70152 single nucleotide variant NM_007294.3(BRCA1):c.5256A>C (p.Ala1752=) 80356844 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209090 41209090 T G 70152 single nucleotide variant NM_007294.3(BRCA1):c.5256A>C (p.Ala1752=) 80356844 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057073 43057073 T G 70153 duplication NM_007294.3(BRCA1):c.5257dupA (p.Arg1753Lysfs) 397509245 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209089 41209089 T TT 70153 duplication NM_007294.3(BRCA1):c.5257dupA (p.Arg1753Lysfs) 397509245 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057072 43057072 T TT 70154 single nucleotide variant NM_007294.3(BRCA1):c.5258G>A (p.Arg1753Lys) 397509246 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209088 41209088 C T 70154 single nucleotide variant NM_007294.3(BRCA1):c.5258G>A (p.Arg1753Lys) 397509246 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057071 43057071 C T 70155 single nucleotide variant NM_007294.3(BRCA1):c.5258G>C (p.Arg1753Thr) 397509246 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209088 41209088 C G 70155 single nucleotide variant NM_007294.3(BRCA1):c.5258G>C (p.Arg1753Thr) 397509246 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057071 43057071 C G 70156 single nucleotide variant NM_007294.3(BRCA1):c.5260G>T (p.Glu1754Ter) 80357432 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41209086 41209086 C A 70156 single nucleotide variant NM_007294.3(BRCA1):c.5260G>T (p.Glu1754Ter) 80357432 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43057069 43057069 C A 70157 single nucleotide variant NM_007294.3(BRCA1):c.5266C>T (p.Gln1756Ter) 397509247 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209080 41209080 G A 70157 single nucleotide variant NM_007294.3(BRCA1):c.5266C>T (p.Gln1756Ter) 397509247 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057063 43057063 G A 70159 deletion NM_007294.3(BRCA1):c.5270_5276delACAGAAA (p.Asp1757Glyfs) 397509248 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209070 41209076 TTTCTGT - 70159 deletion NM_007294.3(BRCA1):c.5270_5276delACAGAAA (p.Asp1757Glyfs) 397509248 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057053 43057059 TTTCTGT - 70161 single nucleotide variant NM_007294.3(BRCA1):c.5277+1G>C 80358150 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209068 41209068 C G 70161 single nucleotide variant NM_007294.3(BRCA1):c.5277+1G>C 80358150 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057051 43057051 C G 70162 single nucleotide variant NM_007294.3(BRCA1):c.5277+21T>G 397509249 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209048 41209048 A C 70162 single nucleotide variant NM_007294.3(BRCA1):c.5277+21T>G 397509249 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057031 43057031 A C 70163 single nucleotide variant NM_007294.3(BRCA1):c.5277+3A>C 397509250 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209066 41209066 T G 70163 single nucleotide variant NM_007294.3(BRCA1):c.5277+3A>C 397509250 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057049 43057049 T G 70164 single nucleotide variant NM_007294.3(BRCA1):c.5277+4A>T 397509251 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209065 41209065 T A 70164 single nucleotide variant NM_007294.3(BRCA1):c.5277+4A>T 397509251 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057048 43057048 T A 70165 single nucleotide variant NM_007294.3(BRCA1):c.5277+5A>T 397509252 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209064 41209064 T A 70166 single nucleotide variant NM_007294.3(BRCA1):c.5277G>A (p.Lys1759=) 80356854 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41209069 41209069 C T 70166 single nucleotide variant NM_007294.3(BRCA1):c.5277G>A (p.Lys1759=) 80356854 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43057052 43057052 C T 70167 single nucleotide variant NM_007294.3(BRCA1):c.5278-1G>A 80358099 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41203135 41203135 C T 70167 single nucleotide variant NM_007294.3(BRCA1):c.5278-1G>A 80358099 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43051118 43051118 C T 70168 single nucleotide variant NM_007294.3(BRCA1):c.5278-1G>C 80358099 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41203135 41203135 C G 70168 single nucleotide variant NM_007294.3(BRCA1):c.5278-1G>C 80358099 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43051118 43051118 C G 70169 single nucleotide variant NM_007294.3(BRCA1):c.5278-1G>T 80358099 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41203135 41203135 C A 70169 single nucleotide variant NM_007294.3(BRCA1):c.5278-1G>T 80358099 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43051118 43051118 C A 70170 single nucleotide variant NM_007294.3(BRCA1):c.5278-2A>T 397509253 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41203136 41203136 T A 70170 single nucleotide variant NM_007294.3(BRCA1):c.5278-2A>T 397509253 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43051119 43051119 T A 70171 deletion NM_007294.3(BRCA1):c.5278-6_5278-4delTTC 397509254 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41203138 41203140 GAA - 70171 deletion NM_007294.3(BRCA1):c.5278-6_5278-4delTTC 397509254 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43051121 43051123 GAA - 70172 single nucleotide variant NM_007294.3(BRCA1):c.5282T>C (p.Phe1761Ser) 80356905 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41203130 41203130 A G 70222 deletion NM_007294.3(BRCA1):c.536delA (p.Tyr179Serfs) 397509273 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41251803 41251803 T - 70172 single nucleotide variant NM_007294.3(BRCA1):c.5282T>C (p.Phe1761Ser) 80356905 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43051113 43051113 A G 70173 deletion NM_007294.3(BRCA1):c.5284delA (p.Arg1762Glyfs) 80357684 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41203128 41203128 T - 70173 deletion NM_007294.3(BRCA1):c.5284delA (p.Arg1762Glyfs) 80357684 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43051111 43051111 T - 70174 single nucleotide variant NM_007294.3(BRCA1):c.5288G>T (p.Gly1763Val) 80357007 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41203124 41203124 C A 70174 single nucleotide variant NM_007294.3(BRCA1):c.5288G>T (p.Gly1763Val) 80357007 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43051107 43051107 C A 70175 deletion NM_007294.3(BRCA1):c.5289delG (p.Leu1764Terfs) 397509255 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41203123 41203123 C - 70175 deletion NM_007294.3(BRCA1):c.5289delG (p.Leu1764Terfs) 397509255 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43051106 43051106 C - 70177 single nucleotide variant NM_007294.3(BRCA1):c.5291T>C (p.Leu1764Pro) 80357281 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41203121 41203121 A G 70177 single nucleotide variant NM_007294.3(BRCA1):c.5291T>C (p.Leu1764Pro) 80357281 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43051104 43051104 A G 70178 single nucleotide variant NM_007294.3(BRCA1):c.5293G>T (p.Glu1765Ter) 397509256 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41203119 41203119 C A 70178 single nucleotide variant NM_007294.3(BRCA1):c.5293G>T (p.Glu1765Ter) 397509256 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43051102 43051102 C A 70179 deletion NM_007294.3(BRCA1):c.529delT (p.Ser177Leufs) 80357758 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41251810 41251810 A - 70179 deletion NM_007294.3(BRCA1):c.529delT (p.Ser177Leufs) 80357758 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43099793 43099793 A - 70180 single nucleotide variant NM_007294.3(BRCA1):c.5306A>G (p.Tyr1769Cys) 397509257 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41203106 41203106 T C 70180 single nucleotide variant NM_007294.3(BRCA1):c.5306A>G (p.Tyr1769Cys) 397509257 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43051089 43051089 T C 70181 single nucleotide variant NM_007294.3(BRCA1):c.5307T>A (p.Tyr1769Ter) 397509258 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41203105 41203105 A T 70181 single nucleotide variant NM_007294.3(BRCA1):c.5307T>A (p.Tyr1769Ter) 397509258 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43051088 43051088 A T 70182 single nucleotide variant NM_007294.3(BRCA1):c.5310G>A (p.Gly1770=) 273901761 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41203102 41203102 C T 70182 single nucleotide variant NM_007294.3(BRCA1):c.5310G>A (p.Gly1770=) 273901761 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43051085 43051085 C T 70183 deletion NM_007294.3(BRCA1):c.5310delG (p.Phe1772Serfs) 80357581 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41203102 41203102 C - 70183 deletion NM_007294.3(BRCA1):c.5310delG (p.Phe1772Serfs) 80357581 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43051085 43051085 C - 70184 duplication NM_007294.3(BRCA1):c.5310dupG (p.Pro1771Alafs) 397509260 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41203102 41203102 C CC 70184 duplication NM_007294.3(BRCA1):c.5310dupG (p.Pro1771Alafs) 397509260 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43051085 43051085 C CC 70185 single nucleotide variant NM_007294.3(BRCA1):c.5312C>G (p.Pro1771Arg) 80357025 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41203100 41203100 G C 70185 single nucleotide variant NM_007294.3(BRCA1):c.5312C>G (p.Pro1771Arg) 80357025 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43051083 43051083 G C 70186 single nucleotide variant NM_007294.3(BRCA1):c.5312C>T (p.Pro1771Leu) 80357025 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41203100 41203100 G A 70369 single nucleotide variant NM_007294.3(BRCA1):c.789T>C (p.Gly263=) 397509320 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246759 41246759 A G 70186 single nucleotide variant NM_007294.3(BRCA1):c.5312C>T (p.Pro1771Leu) 80357025 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43051083 43051083 G A 70187 deletion NM_007294.3(BRCA1):c.5315delT (p.Phe1772Serfs) 397509261 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41203097 41203097 A - 70187 deletion NM_007294.3(BRCA1):c.5315delT (p.Phe1772Serfs) 397509261 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43051080 43051080 A - 70188 single nucleotide variant NM_007294.3(BRCA1):c.5317A>T (p.Thr1773Ser) 80357324 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41203095 41203095 T A 70188 single nucleotide variant NM_007294.3(BRCA1):c.5317A>T (p.Thr1773Ser) 80357324 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43051078 43051078 T A 70189 single nucleotide variant NM_007294.3(BRCA1):c.5318C>T (p.Thr1773Ile) 80357428 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41203094 41203094 G A 70189 single nucleotide variant NM_007294.3(BRCA1):c.5318C>T (p.Thr1773Ile) 80357428 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43051077 43051077 G A 70190 duplication NM_007294.3(BRCA1):c.5319dupC (p.Asn1774Glnfs) 80357823 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41203093 41203093 G GG 70190 duplication NM_007294.3(BRCA1):c.5319dupC (p.Asn1774Glnfs) 80357823 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43051076 43051076 G GG 70191 deletion NM_007294.3(BRCA1):c.5320_5321delAA (p.Asn1774Hisfs) 80357818 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41203091 41203092 TT - 70191 deletion NM_007294.3(BRCA1):c.5320_5321delAA (p.Asn1774Hisfs) 80357818 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43051074 43051075 TT - 70192 deletion NM_007294.3(BRCA1):c.5323_5324delAT (p.Met1775Alafs) 397509262 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41203088 41203089 AT - 70192 deletion NM_007294.3(BRCA1):c.5323_5324delAT (p.Met1775Alafs) 397509262 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43051071 43051072 AT - 70369 single nucleotide variant NM_007294.3(BRCA1):c.789T>C (p.Gly263=) 397509320 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094742 43094742 A G 70193 duplication NM_007294.3(BRCA1):c.5328dupC (p.Thr1777Hisfs) 80357751 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41203084 41203084 G GG 70193 duplication NM_007294.3(BRCA1):c.5328dupC (p.Thr1777Hisfs) 80357751 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43051067 43051067 G GG 70194 single nucleotide variant NM_007294.3(BRCA1):c.5332+1G>A 80358041 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41203079 41203079 C T 70194 single nucleotide variant NM_007294.3(BRCA1):c.5332+1G>A 80358041 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43051062 43051062 C T 70195 single nucleotide variant NM_007294.3(BRCA1):c.5332+1G>C 80358041 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41203079 41203079 C G 70195 single nucleotide variant NM_007294.3(BRCA1):c.5332+1G>C 80358041 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43051062 43051062 C G 70196 deletion NM_007294.3(BRCA1):c.5332+1delG 397509263 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41203079 41203079 C - 70196 deletion NM_007294.3(BRCA1):c.5332+1delG 397509263 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43051062 43051062 C - 70197 single nucleotide variant NM_007294.3(BRCA1):c.5332G>A (p.Asp1778Asn) 80357112 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41203080 41203080 C T 70197 single nucleotide variant NM_007294.3(BRCA1):c.5332G>A (p.Asp1778Asn) 80357112 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43051063 43051063 C T 70198 single nucleotide variant NM_007294.3(BRCA1):c.5332G>C (p.Asp1778His) 80357112 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41203080 41203080 C G 70198 single nucleotide variant NM_007294.3(BRCA1):c.5332G>C (p.Asp1778His) 80357112 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43051063 43051063 C G 70199 single nucleotide variant NM_007294.3(BRCA1):c.5332G>T (p.Asp1778Tyr) 80357112 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41203080 41203080 C A 70199 single nucleotide variant NM_007294.3(BRCA1):c.5332G>T (p.Asp1778Tyr) 80357112 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43051063 43051063 C A 70200 single nucleotide variant NM_007294.3(BRCA1):c.5333-1G>A 80358126 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41201212 41201212 C T 70200 single nucleotide variant NM_007294.3(BRCA1):c.5333-1G>A 80358126 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43049195 43049195 C T 70201 single nucleotide variant NM_007294.3(BRCA1):c.5333-1G>C 80358126 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41201212 41201212 C G 70201 single nucleotide variant NM_007294.3(BRCA1):c.5333-1G>C 80358126 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43049195 43049195 C G 70202 single nucleotide variant NM_007294.3(BRCA1):c.5333-2A>C 397509264 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41201213 41201213 T G 70202 single nucleotide variant NM_007294.3(BRCA1):c.5333-2A>C 397509264 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43049196 43049196 T G 70203 single nucleotide variant NM_007294.3(BRCA1):c.5333-2A>T 397509264 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41201213 41201213 T A 70203 single nucleotide variant NM_007294.3(BRCA1):c.5333-2A>T 397509264 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43049196 43049196 T A 70204 single nucleotide variant NM_007294.3(BRCA1):c.5333-3T>G 397509265 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41201214 41201214 A C 70204 single nucleotide variant NM_007294.3(BRCA1):c.5333-3T>G 397509265 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43049197 43049197 A C 70205 single nucleotide variant NM_007294.3(BRCA1):c.5333-6T>G 397509266 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41201217 41201217 A C 70205 single nucleotide variant NM_007294.3(BRCA1):c.5333-6T>G 397509266 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43049200 43049200 A C 70206 single nucleotide variant NM_007294.3(BRCA1):c.5333A>G (p.Asp1778Gly) 80357041 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41201211 41201211 T C 70206 single nucleotide variant NM_007294.3(BRCA1):c.5333A>G (p.Asp1778Gly) 80357041 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43049194 43049194 T C 70207 single nucleotide variant NM_007294.3(BRCA1):c.5335C>T (p.Gln1779Ter) 397509267 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41201209 41201209 G A 70207 single nucleotide variant NM_007294.3(BRCA1):c.5335C>T (p.Gln1779Ter) 397509267 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43049192 43049192 G A 70208 single nucleotide variant NM_007294.3(BRCA1):c.5339T>C (p.Leu1780Pro) 80357474 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41201205 41201205 A G 70208 single nucleotide variant NM_007294.3(BRCA1):c.5339T>C (p.Leu1780Pro) 80357474 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43049188 43049188 A G 70209 single nucleotide variant NM_007294.3(BRCA1):c.5341G>T (p.Glu1781Ter) 397509268 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41201203 41201203 C A 70209 single nucleotide variant NM_007294.3(BRCA1):c.5341G>T (p.Glu1781Ter) 397509268 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43049186 43049186 C A 70210 deletion NM_007294.3(BRCA1):c.5341delG (p.Glu1781Asnfs) 80357694 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41201203 41201203 C - 70210 deletion NM_007294.3(BRCA1):c.5341delG (p.Glu1781Asnfs) 80357694 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43049186 43049186 C - 70211 single nucleotide variant NM_007294.3(BRCA1):c.5345G>A (p.Trp1782Ter) 80357219 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41201199 41201199 C T 70211 single nucleotide variant NM_007294.3(BRCA1):c.5345G>A (p.Trp1782Ter) 80357219 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43049182 43049182 C T 70212 single nucleotide variant NM_007294.3(BRCA1):c.5347A>C (p.Met1783Leu) 80357012 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41201197 41201197 T G 70212 single nucleotide variant NM_007294.3(BRCA1):c.5347A>C (p.Met1783Leu) 80357012 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43049180 43049180 T G 70213 single nucleotide variant NM_007294.3(BRCA1):c.5353C>T (p.Gln1785Ter) 80356969 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41201191 41201191 G A 70213 single nucleotide variant NM_007294.3(BRCA1):c.5353C>T (p.Gln1785Ter) 80356969 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43049174 43049174 G A 70214 single nucleotide variant NM_007294.3(BRCA1):c.5355G>T (p.Gln1785His) 397509269 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41201189 41201189 C A 70214 single nucleotide variant NM_007294.3(BRCA1):c.5355G>T (p.Gln1785His) 397509269 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43049172 43049172 C A 70215 single nucleotide variant NM_007294.3(BRCA1):c.5359T>A (p.Cys1787Ser) 80357065 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41201185 41201185 A T 70215 single nucleotide variant NM_007294.3(BRCA1):c.5359T>A (p.Cys1787Ser) 80357065 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43049168 43049168 A T 70216 indel NM_007294.3(BRCA1):c.5360_5361delGTinsAG (p.Cys1787Ter) 397509270 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41201183 41201184 AC CT 70216 indel NM_007294.3(BRCA1):c.5360_5361delGTinsAG (p.Cys1787Ter) 397509270 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43049166 43049167 AC CT 70217 single nucleotide variant NM_007294.3(BRCA1):c.5362G>T (p.Gly1788Cys) 397509271 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41201182 41201182 C A 70217 single nucleotide variant NM_007294.3(BRCA1):c.5362G>T (p.Gly1788Cys) 397509271 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43049165 43049165 C A 70218 single nucleotide variant NM_007294.3(BRCA1):c.5363G>A (p.Gly1788Asp) 80357069 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41201181 41201181 C T 70218 single nucleotide variant NM_007294.3(BRCA1):c.5363G>A (p.Gly1788Asp) 80357069 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43049164 43049164 C T 70219 single nucleotide variant NM_007294.3(BRCA1):c.5365G>A (p.Ala1789Thr) 80357078 MedGen:C0677776,Orphanet:ORPHA145 17 41201179 41201179 C T 70219 single nucleotide variant NM_007294.3(BRCA1):c.5365G>A (p.Ala1789Thr) 80357078 MedGen:C0677776,Orphanet:ORPHA145 17 43049162 43049162 C T 70220 single nucleotide variant NM_007294.3(BRCA1):c.5365G>T (p.Ala1789Ser) 80357078 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41201179 41201179 C A 70220 single nucleotide variant NM_007294.3(BRCA1):c.5365G>T (p.Ala1789Ser) 80357078 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43049162 43049162 C A 70221 deletion NM_007294.3(BRCA1):c.5369_5385del17 (p.Ser1790Phefs) 397509272 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41201159 41201175 na na 70221 deletion NM_007294.3(BRCA1):c.5369_5385del17 (p.Ser1790Phefs) 397509272 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43049142 43049158 na na 70223 single nucleotide variant NM_007294.3(BRCA1):c.5377A>T (p.Lys1793Ter) 397509274 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41201167 41201167 T A 70223 single nucleotide variant NM_007294.3(BRCA1):c.5377A>T (p.Lys1793Ter) 397509274 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43049150 43049150 T A 70224 single nucleotide variant NM_007294.3(BRCA1):c.5382G>T (p.Glu1794Asp) 397509275 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41201162 41201162 C A 70224 single nucleotide variant NM_007294.3(BRCA1):c.5382G>T (p.Glu1794Asp) 397509275 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43049145 43049145 C A 70225 duplication NM_007294.3(BRCA1):c.5386dupT (p.Ser1796Phefs) 80357838 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41201158 41201158 A AA 70225 duplication NM_007294.3(BRCA1):c.5386dupT (p.Ser1796Phefs) 80357838 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43049141 43049141 A AA 70226 single nucleotide variant NM_007294.3(BRCA1):c.53T>A (p.Met18Lys) 80356929 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41276061 41276061 A T 70226 single nucleotide variant NM_007294.3(BRCA1):c.53T>A (p.Met18Lys) 80356929 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43124044 43124044 A T 70227 deletion NM_007294.3(BRCA1):c.5406+1_5406+3delGTA 397509277 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41201135 41201137 TAC - 70227 deletion NM_007294.3(BRCA1):c.5406+1_5406+3delGTA 397509277 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43049118 43049120 TAC - 70228 single nucleotide variant NM_007294.3(BRCA1):c.5406+33A>T 80358092 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41201105 41201105 T A 70228 single nucleotide variant NM_007294.3(BRCA1):c.5406+33A>T 80358092 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43049088 43049088 T A 70229 single nucleotide variant NM_007294.3(BRCA1):c.5406+3A>T 397509278 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41201135 41201135 T A 70229 single nucleotide variant NM_007294.3(BRCA1):c.5406+3A>T 397509278 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43049118 43049118 T A 70230 single nucleotide variant NM_007294.3(BRCA1):c.5406+4A>G 397509279 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41201134 41201134 T C 70230 single nucleotide variant NM_007294.3(BRCA1):c.5406+4A>G 397509279 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43049117 43049117 T C 70231 single nucleotide variant NM_007294.3(BRCA1):c.5406+5G>A 80358073 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41201133 41201133 C T 70231 single nucleotide variant NM_007294.3(BRCA1):c.5406+5G>A 80358073 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43049116 43049116 C T 70232 single nucleotide variant NM_007294.3(BRCA1):c.5406+5G>C 80358073 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41201133 41201133 C G 70232 single nucleotide variant NM_007294.3(BRCA1):c.5406+5G>C 80358073 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43049116 43049116 C G 70233 single nucleotide variant NM_007294.3(BRCA1):c.5406+7A>G 397509280 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41201131 41201131 T C 70233 single nucleotide variant NM_007294.3(BRCA1):c.5406+7A>G 397509280 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43049114 43049114 T C 70234 single nucleotide variant NM_007294.3(BRCA1):c.5407-2A>G 80358002 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41199722 41199722 T C 70234 single nucleotide variant NM_007294.3(BRCA1):c.5407-2A>G 80358002 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43047705 43047705 T C 70235 single nucleotide variant NM_007294.3(BRCA1):c.5411T>A (p.Val1804Asp) 80356920 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1140680;MedGen:CN169374 17 41199716 41199716 A T 70235 single nucleotide variant NM_007294.3(BRCA1):c.5411T>A (p.Val1804Asp) 80356920 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1140680;MedGen:CN169374 17 43047699 43047699 A T 70236 single nucleotide variant NM_007294.3(BRCA1):c.5414A>C (p.His1805Pro) 397509281 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41199713 41199713 T G 70236 single nucleotide variant NM_007294.3(BRCA1):c.5414A>C (p.His1805Pro) 397509281 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43047696 43047696 T G 70237 single nucleotide variant NM_007294.3(BRCA1):c.5416C>G (p.Pro1806Ala) 80357241 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41199711 41199711 G C 70237 single nucleotide variant NM_007294.3(BRCA1):c.5416C>G (p.Pro1806Ala) 80357241 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43047694 43047694 G C 70238 deletion NM_007294.3(BRCA1):c.5419delA (p.Ile1807Leufs) 80357934 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41199708 41199708 T - 70238 deletion NM_007294.3(BRCA1):c.5419delA (p.Ile1807Leufs) 80357934 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43047691 43047691 T - 70239 single nucleotide variant NM_007294.3(BRCA1):c.5423T>C (p.Val1808Ala) 80357358 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41199704 41199704 A G 70239 single nucleotide variant NM_007294.3(BRCA1):c.5423T>C (p.Val1808Ala) 80357358 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43047687 43047687 A G 70240 single nucleotide variant NM_007294.3(BRCA1):c.5425G>T (p.Val1809Phe) 28897698 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41199702 41199702 C A 70240 single nucleotide variant NM_007294.3(BRCA1):c.5425G>T (p.Val1809Phe) 28897698 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43047685 43047685 C A 70241 deletion NM_007294.3(BRCA1):c.5425_5430delGTTGTG (p.Val1809_Val1810del) 80358348 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41199697 41199702 CACAAC - 70241 deletion NM_007294.3(BRCA1):c.5425_5430delGTTGTG (p.Val1809_Val1810del) 80358348 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43047680 43047685 CACAAC - 70242 single nucleotide variant NM_007294.3(BRCA1):c.5426T>C (p.Val1809Ala) 80357216 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41199701 41199701 A G 70242 single nucleotide variant NM_007294.3(BRCA1):c.5426T>C (p.Val1809Ala) 80357216 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43047684 43047684 A G 70249 single nucleotide variant NM_007294.3(BRCA1):c.5448A>G (p.Thr1816=) 397509285 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41199679 41199679 T C 70243 single nucleotide variant NM_007294.3(BRCA1):c.5429T>G (p.Val1810Gly) 80357451 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41199698 41199698 A C 70243 single nucleotide variant NM_007294.3(BRCA1):c.5429T>G (p.Val1810Gly) 80357451 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43047681 43047681 A C 70244 single nucleotide variant NM_007294.3(BRCA1):c.5431C>T (p.Gln1811Ter) 397509283 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809;MedGen:CN169374 17 41199696 41199696 G A 70244 single nucleotide variant NM_007294.3(BRCA1):c.5431C>T (p.Gln1811Ter) 397509283 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809;MedGen:CN169374 17 43047679 43047679 G A 70245 single nucleotide variant NM_007294.3(BRCA1):c.5432A>G (p.Gln1811Arg) 80357040 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41199695 41199695 T C 70245 single nucleotide variant NM_007294.3(BRCA1):c.5432A>G (p.Gln1811Arg) 80357040 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43047678 43047678 T C 70246 deletion NM_007294.3(BRCA1):c.5440delG (p.Ala1814Profs) 80357946 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41199687 41199687 C - 70246 deletion NM_007294.3(BRCA1):c.5440delG (p.Ala1814Profs) 80357946 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43047670 43047670 C - 70247 single nucleotide variant NM_007294.3(BRCA1):c.5444G>A (p.Trp1815Ter) 80356962 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41199683 41199683 C T 70247 single nucleotide variant NM_007294.3(BRCA1):c.5444G>A (p.Trp1815Ter) 80356962 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43047666 43047666 C T 70248 single nucleotide variant NM_007294.3(BRCA1):c.5445G>A (p.Trp1815Ter) 397509284 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41199682 41199682 C T 70248 single nucleotide variant NM_007294.3(BRCA1):c.5445G>A (p.Trp1815Ter) 397509284 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43047665 43047665 C T 70250 single nucleotide variant NM_007294.3(BRCA1):c.5449G>T (p.Glu1817Ter) 80356868 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41199678 41199678 C A 70250 single nucleotide variant NM_007294.3(BRCA1):c.5449G>T (p.Glu1817Ter) 80356868 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43047661 43047661 C A 70251 deletion NM_007294.3(BRCA1):c.5450_5451delAG (p.Glu1817Glyfs) 397509286 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41199676 41199677 CT - 70251 deletion NM_007294.3(BRCA1):c.5450_5451delAG (p.Glu1817Glyfs) 397509286 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43047659 43047660 CT - 70252 single nucleotide variant NM_007294.3(BRCA1):c.5456A>G (p.Asn1819Ser) 80357286 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41199671 41199671 T C 70252 single nucleotide variant NM_007294.3(BRCA1):c.5456A>G (p.Asn1819Ser) 80357286 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43047654 43047654 T C 70253 single nucleotide variant NM_007294.3(BRCA1):c.5467+5G>C 397509287 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41199655 41199655 C G 70253 single nucleotide variant NM_007294.3(BRCA1):c.5467+5G>C 397509287 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43047638 43047638 C G 70254 single nucleotide variant NM_007294.3(BRCA1):c.5467+8G>T 80358062 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41199652 41199652 C A 70254 single nucleotide variant NM_007294.3(BRCA1):c.5467+8G>T 80358062 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43047635 43047635 C A 70255 single nucleotide variant NM_007294.3(BRCA1):c.5467G>A (p.Ala1823Thr) 80357212 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41199660 41199660 C T 70255 single nucleotide variant NM_007294.3(BRCA1):c.5467G>A (p.Ala1823Thr) 80357212 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43047643 43047643 C T 70256 single nucleotide variant NM_007294.3(BRCA1):c.5468-10C>A 8176316 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 41197829 41197829 G T 70256 single nucleotide variant NM_007294.3(BRCA1):c.5468-10C>A 8176316 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 43045812 43045812 G T 70370 single nucleotide variant NM_007294.3(BRCA1):c.790A>T (p.Ser264Cys) 397509321 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094741 43094741 T A 70257 single nucleotide variant NM_007294.3(BRCA1):c.547+1G>T 80358030 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41251791 41251791 C A 70257 single nucleotide variant NM_007294.3(BRCA1):c.547+1G>T 80358030 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43099774 43099774 C A 70258 deletion NM_007294.3(BRCA1):c.5470_5477delATTGGGCA (p.Ile1824Aspfs) 80357973 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41197810 41197817 TGCCCAAT - 70258 deletion NM_007294.3(BRCA1):c.5470_5477delATTGGGCA (p.Ile1824Aspfs) 80357973 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43045793 43045800 TGCCCAAT - 70259 single nucleotide variant NM_007294.3(BRCA1):c.5478G>T (p.Gln1826His) 80357332 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41197809 41197809 C A 70259 single nucleotide variant NM_007294.3(BRCA1):c.5478G>T (p.Gln1826His) 80357332 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43045792 43045792 C A 70260 deletion NM_007294.3(BRCA1):c.5483delG (p.Cys1828Leufs) 397509288 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41197804 41197804 C - 70260 deletion NM_007294.3(BRCA1):c.5483delG (p.Cys1828Leufs) 397509288 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43045787 43045787 C - 70261 single nucleotide variant NM_007294.3(BRCA1):c.5488G>A (p.Ala1830Thr) 80357393 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41197799 41197799 C T 70261 single nucleotide variant NM_007294.3(BRCA1):c.5488G>A (p.Ala1830Thr) 80357393 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43045782 43045782 C T 70262 deletion NM_007294.3(BRCA1):c.548delG (p.Gly183Aspfs) 397509289 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41249306 41249306 C - 70262 deletion NM_007294.3(BRCA1):c.548delG (p.Gly183Aspfs) 397509289 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43097289 43097289 C - 70263 deletion NM_007294.3(BRCA1):c.5492delC (p.Pro1831Leufs) 80357582 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 41197795 41197795 G - 70263 deletion NM_007294.3(BRCA1):c.5492delC (p.Pro1831Leufs) 80357582 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 43045778 43045778 G - 70264 indel NM_007294.3(BRCA1):c.5496_5506delGGTGACCCGAGinsA (p.Val1833Serfs) 273902775 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41197781 41197791 CTCGGGTCACC T 70264 indel NM_007294.3(BRCA1):c.5496_5506delGGTGACCCGAGinsA (p.Val1833Serfs) 273902775 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43045764 43045774 CTCGGGTCACC T 70265 single nucleotide variant NM_007294.3(BRCA1):c.5497G>A (p.Val1833Met) 80357268 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41197790 41197790 C T 70265 single nucleotide variant NM_007294.3(BRCA1):c.5497G>A (p.Val1833Met) 80357268 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43045773 43045773 C T 70266 deletion NM_007294.3(BRCA1):c.5497_5506delGTGACCCGAG (p.Val1833Serfs) 397509290 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41197781 41197790 CTCGGGTCAC - 70266 deletion NM_007294.3(BRCA1):c.5497_5506delGTGACCCGAG (p.Val1833Serfs) 397509290 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43045764 43045773 CTCGGGTCAC - 70267 deletion NM_007294.3:c.5498_5512del14 -1 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 na -1 -1 na na 70268 single nucleotide variant NM_007294.3(BRCA1):c.5503C>T (p.Arg1835Ter) 41293465 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41197784 41197784 G A 70268 single nucleotide variant NM_007294.3(BRCA1):c.5503C>T (p.Arg1835Ter) 41293465 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43045767 43045767 G A 70269 deletion NM_007294.3(BRCA1):c.5503_5564del62 (p.Arg1835Thrfs) 80359883 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41197723 41197784 na na 70269 deletion NM_007294.3(BRCA1):c.5503_5564del62 (p.Arg1835Thrfs) 80359883 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43045706 43045767 na na 70371 single nucleotide variant NM_007294.3(BRCA1):c.791G>A (p.Ser264Asn) 397509322 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246757 41246757 C T 70270 deletion NM_007294.3(BRCA1):c.5503delC (p.Arg1835Glufs) 397509291 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41197784 41197784 G - 70270 deletion NM_007294.3(BRCA1):c.5503delC (p.Arg1835Glufs) 397509291 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43045767 43045767 G - 70271 single nucleotide variant NM_007294.3(BRCA1):c.5504G>A (p.Arg1835Gln) 273902776 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41197783 41197783 C T 70271 single nucleotide variant NM_007294.3(BRCA1):c.5504G>A (p.Arg1835Gln) 273902776 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43045766 43045766 C T 70272 single nucleotide variant NM_007294.3(BRCA1):c.5506G>A (p.Glu1836Lys) 80356942 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41197781 41197781 C T 70272 single nucleotide variant NM_007294.3(BRCA1):c.5506G>A (p.Glu1836Lys) 80356942 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43045764 43045764 C T 70273 single nucleotide variant NM_007294.3(BRCA1):c.5506G>T (p.Glu1836Ter) 80356942 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41197781 41197781 C A 70273 single nucleotide variant NM_007294.3(BRCA1):c.5506G>T (p.Glu1836Ter) 80356942 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43045764 43045764 C A 70274 single nucleotide variant NM_007294.3(BRCA1):c.5509T>G (p.Trp1837Gly) 80356959 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41197778 41197778 A C 70274 single nucleotide variant NM_007294.3(BRCA1):c.5509T>G (p.Trp1837Gly) 80356959 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43045761 43045761 A C 70275 single nucleotide variant NM_007294.3(BRCA1):c.5510G>A (p.Trp1837Ter) 80357307 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41197777 41197777 C T 70275 single nucleotide variant NM_007294.3(BRCA1):c.5510G>A (p.Trp1837Ter) 80357307 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43045760 43045760 C T 70276 single nucleotide variant NM_007294.3(BRCA1):c.5511G>A (p.Trp1837Ter) 80356914 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41197776 41197776 C T 70276 single nucleotide variant NM_007294.3(BRCA1):c.5511G>A (p.Trp1837Ter) 80356914 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43045759 43045759 C T 70277 deletion NM_007294.3(BRCA1):c.5512delG (p.Val1838Cysfs) 80357839 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41197775 41197775 C - 70277 deletion NM_007294.3(BRCA1):c.5512delG (p.Val1838Cysfs) 80357839 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43045758 43045758 C - 70278 single nucleotide variant NM_007294.3(BRCA1):c.5513T>A (p.Val1838Glu) 80357107 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41197774 41197774 A T 70278 single nucleotide variant NM_007294.3(BRCA1):c.5513T>A (p.Val1838Glu) 80357107 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43045757 43045757 A T 70279 deletion NM_007294.3(BRCA1):c.5521delA (p.Ser1841Valfs) 80357721 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41197766 41197766 T - 70279 deletion NM_007294.3(BRCA1):c.5521delA (p.Ser1841Valfs) 80357721 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43045749 43045749 T - 70280 single nucleotide variant NM_007294.3(BRCA1):c.5522G>A (p.Ser1841Asn) 80357368 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 41197765 41197765 C T 70280 single nucleotide variant NM_007294.3(BRCA1):c.5522G>A (p.Ser1841Asn) 80357368 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 43045748 43045748 C T 70281 single nucleotide variant NM_007294.3(BRCA1):c.5527G>C (p.Ala1843Pro) 80357019 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41197760 41197760 C G 70281 single nucleotide variant NM_007294.3(BRCA1):c.5527G>C (p.Ala1843Pro) 80357019 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43045743 43045743 C G 70282 single nucleotide variant NM_007294.3(BRCA1):c.5531T>G (p.Leu1844Arg) 80357323 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41197756 41197756 A C 70282 single nucleotide variant NM_007294.3(BRCA1):c.5531T>G (p.Leu1844Arg) 80357323 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43045739 43045739 A C 70283 single nucleotide variant NM_007294.3(BRCA1):c.5532C>T (p.Leu1844=) 80356829 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41197755 41197755 G A 70283 single nucleotide variant NM_007294.3(BRCA1):c.5532C>T (p.Leu1844=) 80356829 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43045738 43045738 G A 70284 insertion NM_007294.3(BRCA1):c.5532_5533insG (p.Tyr1845Valfs) 397509293 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41197754 41197755 - C 70284 insertion NM_007294.3(BRCA1):c.5532_5533insG (p.Tyr1845Valfs) 397509293 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43045737 43045738 - C 70285 duplication NM_007294.3(BRCA1):c.5533dupT (p.Tyr1845Leufs) 397509294 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41197754 41197754 A AA 70285 duplication NM_007294.3(BRCA1):c.5533dupT (p.Tyr1845Leufs) 397509294 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43045737 43045737 A AA 70286 single nucleotide variant NM_007294.3(BRCA1):c.5535C>A (p.Tyr1845Ter) 80356977 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41197752 41197752 G T 70286 single nucleotide variant NM_007294.3(BRCA1):c.5535C>A (p.Tyr1845Ter) 80356977 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43045735 43045735 G T 70287 single nucleotide variant NM_007294.3(BRCA1):c.5536C>T (p.Gln1846Ter) 80356873 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41197751 41197751 G A 70287 single nucleotide variant NM_007294.3(BRCA1):c.5536C>T (p.Gln1846Ter) 80356873 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43045734 43045734 G A 70288 single nucleotide variant NM_007294.3(BRCA1):c.5538G>A (p.Gln1846=) 80356849 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41197749 41197749 C T 70288 single nucleotide variant NM_007294.3(BRCA1):c.5538G>A (p.Gln1846=) 80356849 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43045732 43045732 C T 70289 single nucleotide variant NM_007294.3(BRCA1):c.5541C>A (p.Cys1847Ter) 397509295 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41197746 41197746 G T 70289 single nucleotide variant NM_007294.3(BRCA1):c.5541C>A (p.Cys1847Ter) 397509295 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43045729 43045729 G T 70290 deletion NM_007294.3(BRCA1):c.5548delC (p.Leu1850Trpfs) 397509296 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41197739 41197739 G - 70290 deletion NM_007294.3(BRCA1):c.5548delC (p.Leu1850Trpfs) 397509296 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43045722 43045722 G - 70291 single nucleotide variant NM_007294.3(BRCA1):c.5553C>A (p.Asp1851Glu) 80357326 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41197734 41197734 G T 70291 single nucleotide variant NM_007294.3(BRCA1):c.5553C>A (p.Asp1851Glu) 80357326 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43045717 43045717 G T 70292 duplication NM_007294.3(BRCA1):c.5553dupC (p.Thr1852Hisfs) 397509297 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41197734 41197734 G GG 70292 duplication NM_007294.3(BRCA1):c.5553dupC (p.Thr1852Hisfs) 397509297 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43045717 43045717 G GG 70293 single nucleotide variant NM_007294.3(BRCA1):c.5556C>G (p.Thr1852=) 80356841 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41197731 41197731 G C 70293 single nucleotide variant NM_007294.3(BRCA1):c.5556C>G (p.Thr1852=) 80356841 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43045714 43045714 G C 70294 single nucleotide variant NM_007294.3(BRCA1):c.5558A>G (p.Tyr1853Cys) 80357258 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41197729 41197729 T C 70294 single nucleotide variant NM_007294.3(BRCA1):c.5558A>G (p.Tyr1853Cys) 80357258 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43045712 43045712 T C 70295 duplication NM_007294.3(BRCA1):c.5558dupA (p.Tyr1853Terfs) 80357629 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41197729 41197729 T TT 70295 duplication NM_007294.3(BRCA1):c.5558dupA (p.Tyr1853Terfs) 80357629 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43045712 43045712 T TT 70296 single nucleotide variant NM_007294.3(BRCA1):c.5559C>A (p.Tyr1853Ter) 80357336 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41197728 41197728 G T 70296 single nucleotide variant NM_007294.3(BRCA1):c.5559C>A (p.Tyr1853Ter) 80357336 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43045711 43045711 G T 70297 single nucleotide variant NM_007294.3(BRCA1):c.5559C>G (p.Tyr1853Ter) 80357336 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41197728 41197728 G C 70297 single nucleotide variant NM_007294.3(BRCA1):c.5559C>G (p.Tyr1853Ter) 80357336 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43045711 43045711 G C 70298 single nucleotide variant NM_007294.3(BRCA1):c.5561T>C (p.Leu1854Pro) 80356996 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41197726 41197726 A G 70298 single nucleotide variant NM_007294.3(BRCA1):c.5561T>C (p.Leu1854Pro) 80356996 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43045709 43045709 A G 70299 single nucleotide variant NM_007294.3(BRCA1):c.5566C>T (p.Pro1856Ser) 80357274 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41197721 41197721 G A 70299 single nucleotide variant NM_007294.3(BRCA1):c.5566C>T (p.Pro1856Ser) 80357274 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43045704 43045704 G A 70300 single nucleotide variant NM_007294.3(BRCA1):c.556T>G (p.Ser186Ala) 397509298 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41249298 41249298 A C 70300 single nucleotide variant NM_007294.3(BRCA1):c.556T>G (p.Ser186Ala) 397509298 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43097281 43097281 A C 70301 single nucleotide variant NM_007294.3(BRCA1):c.5576C>G (p.Pro1859Arg) 80357322 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41197711 41197711 G C 70301 single nucleotide variant NM_007294.3(BRCA1):c.5576C>G (p.Pro1859Arg) 80357322 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43045694 43045694 G C 70302 single nucleotide variant NM_007294.3(BRCA1):c.557C>A (p.Ser186Tyr) 55688530 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41249297 41249297 G T 70302 single nucleotide variant NM_007294.3(BRCA1):c.557C>A (p.Ser186Tyr) 55688530 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43097280 43097280 G T 70303 single nucleotide variant NM_007294.3(BRCA1):c.557C>T (p.Ser186Phe) 55688530 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41249297 41249297 G A 70303 single nucleotide variant NM_007294.3(BRCA1):c.557C>T (p.Ser186Phe) 55688530 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43097280 43097280 G A 70304 single nucleotide variant NM_007294.3(BRCA1):c.5585A>T (p.His1862Leu) 80357183 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41197702 41197702 T A 70304 single nucleotide variant NM_007294.3(BRCA1):c.5585A>T (p.His1862Leu) 80357183 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43045685 43045685 T A 70305 single nucleotide variant NM_007294.3(BRCA1):c.55C>T (p.Gln19Ter) 397509299 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41276059 41276059 G A 70305 single nucleotide variant NM_007294.3(BRCA1):c.55C>T (p.Gln19Ter) 397509299 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43124042 43124042 G A 70306 single nucleotide variant NM_007294.3(BRCA1):c.567T>C (p.Asp189=) 80356845 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41249287 41249287 A G 70306 single nucleotide variant NM_007294.3(BRCA1):c.567T>C (p.Asp189=) 80356845 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43097270 43097270 A G 70307 insertion NM_007294.3(BRCA1):c.569_570insAACG (p.Val191Thrfs) 397509300 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41249284 41249285 - CGTT 70307 insertion NM_007294.3(BRCA1):c.569_570insAACG (p.Val191Thrfs) 397509300 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43097267 43097268 - CGTT 70308 single nucleotide variant NM_007294.3(BRCA1):c.572T>A (p.Val191Asp) 80357142 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41249282 41249282 A T 70308 single nucleotide variant NM_007294.3(BRCA1):c.572T>A (p.Val191Asp) 80357142 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43097265 43097265 A T 70379 deletion NM_007294.3(BRCA1):c.80+6_80+9delTCAG 397509325 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41276025 41276028 CTGA - 70309 single nucleotide variant NM_007294.3(BRCA1):c.591C>T (p.Cys197=) 1799965 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 41249263 41249263 G A 70309 single nucleotide variant NM_007294.3(BRCA1):c.591C>T (p.Cys197=) 1799965 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809;MedGen:CN169374 17 43097246 43097246 G A 70310 single nucleotide variant NM_007294.3(BRCA1):c.593+4A>G 80358154 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41249257 41249257 T C 70310 single nucleotide variant NM_007294.3(BRCA1):c.593+4A>G 80358154 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43097240 43097240 T C 70311 single nucleotide variant NM_007294.3(BRCA1):c.594-2A>G 80358033 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41247941 41247941 T C 70311 single nucleotide variant NM_007294.3(BRCA1):c.594-2A>G 80358033 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43095924 43095924 T C 70312 single nucleotide variant NM_007294.3(BRCA1):c.601G>A (p.Asp201Asn) 80357109 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41247932 41247932 C T 70312 single nucleotide variant NM_007294.3(BRCA1):c.601G>A (p.Asp201Asn) 80357109 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43095915 43095915 C T 70313 single nucleotide variant NM_007294.3(BRCA1):c.612G>C (p.Leu204Phe) 80357394 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41247921 41247921 C G 70313 single nucleotide variant NM_007294.3(BRCA1):c.612G>C (p.Leu204Phe) 80357394 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43095904 43095904 C G 70314 single nucleotide variant NM_007294.3(BRCA1):c.616C>T (p.Gln206Ter) 397509301 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41247917 41247917 G A 70314 single nucleotide variant NM_007294.3(BRCA1):c.616C>T (p.Gln206Ter) 397509301 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43095900 43095900 G A 70315 single nucleotide variant NM_007294.3(BRCA1):c.61A>G (p.Ile21Val) 80357406 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41276053 41276053 T C 70315 single nucleotide variant NM_007294.3(BRCA1):c.61A>G (p.Ile21Val) 80357406 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43124036 43124036 T C 70316 deletion NM_007294.3(BRCA1):c.61delA (p.Ile21Serfs) 273902778 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41276053 41276053 T - 70316 deletion NM_007294.3(BRCA1):c.61delA (p.Ile21Serfs) 273902778 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43124036 43124036 T - 70317 insertion NM_007294.3(BRCA1):c.624_625insAGGGATGAAATCAGGAGCCA (p.Pro209Argfs) 397509302 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41247908 41247909 - TGGCTCCTGATTTCATCCCT 70317 insertion NM_007294.3(BRCA1):c.624_625insAGGGATGAAATCAGGAGCCA (p.Pro209Argfs) 397509302 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43095891 43095892 - TGGCTCCTGATTTCATCCCT 70318 duplication NM_007294.3(BRCA1):c.62dupT (p.Glu23Argfs) 397509303 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41276052 41276052 A AA 70318 duplication NM_007294.3(BRCA1):c.62dupT (p.Glu23Argfs) 397509303 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43124035 43124035 A AA 70319 single nucleotide variant NM_007294.3(BRCA1):c.637A>G (p.Arg213Gly) 80357081 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41247896 41247896 T C 70319 single nucleotide variant NM_007294.3(BRCA1):c.637A>G (p.Arg213Gly) 80357081 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43095879 43095879 T C 70320 deletion NM_007294.3(BRCA1):c.64_65delTT (p.Leu22Argfs) 397509304 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41276049 41276050 AA - 70320 deletion NM_007294.3(BRCA1):c.64_65delTT (p.Leu22Argfs) 397509304 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43124032 43124033 AA - 70322 single nucleotide variant NM_007294.3(BRCA1):c.655G>A (p.Asp219Asn) 273902779 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41247878 41247878 C T 70322 single nucleotide variant NM_007294.3(BRCA1):c.655G>A (p.Asp219Asn) 273902779 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43095861 43095861 C T 70379 deletion NM_007294.3(BRCA1):c.80+6_80+9delTCAG 397509325 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43124008 43124011 CTGA - 70323 single nucleotide variant NM_007294.3(BRCA1):c.65T>C (p.Leu22Ser) 80357438 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41276049 41276049 A G 70323 single nucleotide variant NM_007294.3(BRCA1):c.65T>C (p.Leu22Ser) 80357438 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43124032 43124032 A G 70324 deletion NM_007294.3(BRCA1):c.667_668delAA (p.Lys223Glyfs) 397509305 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41247865 41247866 TT - 70324 deletion NM_007294.3(BRCA1):c.667_668delAA (p.Lys223Glyfs) 397509305 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43095848 43095849 TT - 70325 single nucleotide variant NM_007294.3(BRCA1):c.668A>G (p.Lys223Arg) 397509306 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41247865 41247865 T C 70325 single nucleotide variant NM_007294.3(BRCA1):c.668A>G (p.Lys223Arg) 397509306 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43095848 43095848 T C 70326 deletion NM_007294.3(BRCA1):c.668delA (p.Lys223Argfs) 80357745 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41247865 41247865 T - 70326 deletion NM_007294.3(BRCA1):c.668delA (p.Lys223Argfs) 80357745 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43095848 43095848 T - 70327 insertion NM_007294.3(BRCA1):c.66_67insC (p.Glu23Argfs) 80357783 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41276047 41276048 - G 70327 insertion NM_007294.3(BRCA1):c.66_67insC (p.Glu23Argfs) 80357783 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43124030 43124031 - G 70329 single nucleotide variant NM_007294.3(BRCA1):c.671-1G>A 80358020 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246878 41246878 C T 70329 single nucleotide variant NM_007294.3(BRCA1):c.671-1G>A 80358020 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094861 43094861 C T 70330 single nucleotide variant NM_007294.3(BRCA1):c.671-2A>C 80358108 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246879 41246879 T G 70330 single nucleotide variant NM_007294.3(BRCA1):c.671-2A>C 80358108 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094862 43094862 T G 70332 single nucleotide variant NM_007294.3(BRCA1):c.678T>A (p.Cys226Ter) 397509308 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246870 41246870 A T 70332 single nucleotide variant NM_007294.3(BRCA1):c.678T>A (p.Cys226Ter) 397509308 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094853 43094853 A T 70333 deletion NM_007294.3(BRCA1):c.685delT (p.Ser229Leufs) 80357824 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41246863 41246863 A - 70333 deletion NM_007294.3(BRCA1):c.685delT (p.Ser229Leufs) 80357824 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43094846 43094846 A - 70334 duplication NM_007294.3(BRCA1):c.68_69dupAG (p.Cys24Serfs) 80357914 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41276045 41276046 CT CTCT 70334 duplication NM_007294.3(BRCA1):c.68_69dupAG (p.Cys24Serfs) 80357914 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43124028 43124029 CT CTCT 70335 duplication NM_007294.3(BRCA1):c.68dupA (p.Cys24Valfs) 397509309 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41276046 41276046 T TT 70335 duplication NM_007294.3(BRCA1):c.68dupA (p.Cys24Valfs) 397509309 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43124029 43124029 T TT 70336 single nucleotide variant NM_007294.3(BRCA1):c.692C>T (p.Thr231Met) 80357001 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246856 41246856 G A 70336 single nucleotide variant NM_007294.3(BRCA1):c.692C>T (p.Thr231Met) 80357001 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094839 43094839 G A 70337 single nucleotide variant NM_007294.3(BRCA1):c.693G>A (p.Thr231=) 62625298 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246855 41246855 C T 70337 single nucleotide variant NM_007294.3(BRCA1):c.693G>A (p.Thr231=) 62625298 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094838 43094838 C T 70338 single nucleotide variant NM_007294.3(BRCA1):c.693G>T (p.Thr231=) 62625298 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246855 41246855 C A 70339 single nucleotide variant NM_007294.3(BRCA1):c.694G>A (p.Asp232Asn) 55975699 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41246854 41246854 C T 70339 single nucleotide variant NM_007294.3(BRCA1):c.694G>A (p.Asp232Asn) 55975699 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43094837 43094837 C T 70340 single nucleotide variant NM_007294.3(BRCA1):c.707C>G (p.Thr236Ser) 80356990 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41246841 41246841 G C 70340 single nucleotide variant NM_007294.3(BRCA1):c.707C>G (p.Thr236Ser) 80356990 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43094824 43094824 G C 70341 single nucleotide variant NM_007294.3(BRCA1):c.70T>C (p.Cys24Arg) 80357410 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41276044 41276044 A G 70341 single nucleotide variant NM_007294.3(BRCA1):c.70T>C (p.Cys24Arg) 80357410 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43124027 43124027 A G 70342 duplication NM_007294.3(BRCA1):c.70_73dupTGTC (p.Pro25Leufs) 397509310 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41276041 41276044 GACA GACAGACA 70342 duplication NM_007294.3(BRCA1):c.70_73dupTGTC (p.Pro25Leufs) 397509310 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43124024 43124027 GACA GACAGACA 70343 deletion NM_007294.3(BRCA1):c.70_80delTGTCCCATCTG (p.Cys24Serfs) 80357696 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41276034 41276044 CAGATGGGACA - 70343 deletion NM_007294.3(BRCA1):c.70_80delTGTCCCATCTG (p.Cys24Serfs) 80357696 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43124017 43124027 CAGATGGGACA - 70344 single nucleotide variant NM_007294.3(BRCA1):c.716A>G (p.His239Arg) 80357396 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 41246832 41246832 T C 70344 single nucleotide variant NM_007294.3(BRCA1):c.716A>G (p.His239Arg) 80357396 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 43094815 43094815 T C 70345 single nucleotide variant NM_007294.3(BRCA1):c.71G>A (p.Cys24Tyr) 80357198 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41276043 41276043 C T 70345 single nucleotide variant NM_007294.3(BRCA1):c.71G>A (p.Cys24Tyr) 80357198 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43124026 43124026 C T 70346 single nucleotide variant NM_007294.3(BRCA1):c.722C>T (p.Pro241Leu) 80357351 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41246826 41246826 G A 70346 single nucleotide variant NM_007294.3(BRCA1):c.722C>T (p.Pro241Leu) 80357351 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43094809 43094809 G A 70347 deletion NM_007294.3(BRCA1):c.72_73delTC (p.Pro25Hisfs) 397509311 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41276041 41276042 GA - 70347 deletion NM_007294.3(BRCA1):c.72_73delTC (p.Pro25Hisfs) 397509311 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43124024 43124025 GA - 70348 deletion NM_007294.3(BRCA1):c.731delA (p.Asn244Metfs) 80357700 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246817 41246817 T - 70348 deletion NM_007294.3(BRCA1):c.731delA (p.Asn244Metfs) 80357700 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094800 43094800 T - 70349 single nucleotide variant NM_007294.3(BRCA1):c.734A>T (p.Asp245Val) 80356865 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246814 41246814 T A 70349 single nucleotide variant NM_007294.3(BRCA1):c.734A>T (p.Asp245Val) 80356865 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094797 43094797 T A 70350 deletion NM_007294.3(BRCA1):c.737delT (p.Leu246Terfs) 397509312 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246811 41246811 A - 70350 deletion NM_007294.3(BRCA1):c.737delT (p.Leu246Terfs) 397509312 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094794 43094794 A - 70351 single nucleotide variant NM_007294.3(BRCA1):c.73C>A (p.Pro25Thr) 397509313 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41276041 41276041 G T 70351 single nucleotide variant NM_007294.3(BRCA1):c.73C>A (p.Pro25Thr) 397509313 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43124024 43124024 G T 70354 single nucleotide variant NM_007294.3(BRCA1):c.743C>A (p.Thr248Asn) 80357062 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246805 41246805 G T 70354 single nucleotide variant NM_007294.3(BRCA1):c.743C>A (p.Thr248Asn) 80357062 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094788 43094788 G T 70355 single nucleotide variant NM_007294.3(BRCA1):c.754C>T (p.Arg252Cys) 273902786 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41246794 41246794 G A 70355 single nucleotide variant NM_007294.3(BRCA1):c.754C>T (p.Arg252Cys) 273902786 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43094777 43094777 G A 70356 single nucleotide variant NM_007294.3(BRCA1):c.755G>A (p.Arg252His) 80357138 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246793 41246793 C T 70356 single nucleotide variant NM_007294.3(BRCA1):c.755G>A (p.Arg252His) 80357138 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094776 43094776 C T 70357 single nucleotide variant NM_007294.3(BRCA1):c.757G>A (p.Ala253Thr) 80357293 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246791 41246791 C T 70357 single nucleotide variant NM_007294.3(BRCA1):c.757G>A (p.Ala253Thr) 80357293 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094774 43094774 C T 70358 single nucleotide variant NM_007294.3(BRCA1):c.75C>T (p.Pro25=) 80356839 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41276039 41276039 G A 70358 single nucleotide variant NM_007294.3(BRCA1):c.75C>T (p.Pro25=) 80356839 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43124022 43124022 G A 70359 duplication NM_007294.3(BRCA1):c.75_80dupCATCTG (p.Cys27_Leu28insIleCys) 397509315 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41276034 41276039 CAGATG CAGATGCAGATG 70359 duplication NM_007294.3(BRCA1):c.75_80dupCATCTG (p.Cys27_Leu28insIleCys) 397509315 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43124017 43124022 CAGATG CAGATGCAGATG 70360 single nucleotide variant NM_007294.3(BRCA1):c.763G>T (p.Glu255Ter) 80357009 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41246785 41246785 C A 70360 single nucleotide variant NM_007294.3(BRCA1):c.763G>T (p.Glu255Ter) 80357009 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43094768 43094768 C A 70361 insertion NM_007294.3(BRCA1):c.768_769insA (p.His257Thrfs) 397509316 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246779 41246780 - T 70361 insertion NM_007294.3(BRCA1):c.768_769insA (p.His257Thrfs) 397509316 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094762 43094763 - T 70362 insertion NM_007294.3(BRCA1):c.768_769insAG (p.His257Serfs) 397509316 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246779 41246780 - CT 70362 insertion NM_007294.3(BRCA1):c.768_769insAG (p.His257Serfs) 397509316 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094762 43094763 - CT 70363 single nucleotide variant NM_007294.3(BRCA1):c.773C>G (p.Pro258Arg) 80357225 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41246775 41246775 G C 70363 single nucleotide variant NM_007294.3(BRCA1):c.773C>G (p.Pro258Arg) 80357225 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43094758 43094758 G C 70364 deletion NM_007294.3(BRCA1):c.775delG (p.Glu259Lysfs) 80357628 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246773 41246773 C - 70364 deletion NM_007294.3(BRCA1):c.775delG (p.Glu259Lysfs) 80357628 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094756 43094756 C - 70365 single nucleotide variant NM_007294.3(BRCA1):c.786G>A (p.Gln262=) 397509317 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246762 41246762 C T 70365 single nucleotide variant NM_007294.3(BRCA1):c.786G>A (p.Gln262=) 397509317 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094745 43094745 C T 70366 single nucleotide variant NM_007294.3(BRCA1):c.787G>T (p.Gly263Cys) 397509318 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246761 41246761 C A 70366 single nucleotide variant NM_007294.3(BRCA1):c.787G>T (p.Gly263Cys) 397509318 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094744 43094744 C A 70367 single nucleotide variant NM_007294.3(BRCA1):c.788G>C (p.Gly263Ala) 397509319 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246760 41246760 C G 70367 single nucleotide variant NM_007294.3(BRCA1):c.788G>C (p.Gly263Ala) 397509319 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094743 43094743 C G 70372 deletion NM_007294.3(BRCA1):c.791_794delGTTC (p.Ser264Metfs) 80357707 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41246754 41246757 GAAC - 70372 deletion NM_007294.3(BRCA1):c.791_794delGTTC (p.Ser264Metfs) 80357707 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43094737 43094740 GAAC - 70373 single nucleotide variant NM_007294.3(BRCA1):c.792T>G (p.Ser264Arg) 80357214 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246756 41246756 A C 70373 single nucleotide variant NM_007294.3(BRCA1):c.792T>G (p.Ser264Arg) 80357214 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094739 43094739 A C 70374 deletion NM_007294.3(BRCA1):c.794_795delCT (p.Ser265Cysfs) 80357955 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246753 41246754 AG - 70374 deletion NM_007294.3(BRCA1):c.794_795delCT (p.Ser265Cysfs) 80357955 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094736 43094737 AG - 70375 single nucleotide variant NM_007294.3(BRCA1):c.795T>C (p.Ser265=) 201441987 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41246753 41246753 A G 70375 single nucleotide variant NM_007294.3(BRCA1):c.795T>C (p.Ser265=) 201441987 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43094736 43094736 A G 70376 duplication NM_007294.3(BRCA1):c.799dupT (p.Ser267Phefs) 397509323 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246749 41246749 A AA 70376 duplication NM_007294.3(BRCA1):c.799dupT (p.Ser267Phefs) 397509323 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094732 43094732 A AA 70377 single nucleotide variant NM_007294.3(BRCA1):c.80+1G>A 80358010 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41276033 41276033 C T 70377 single nucleotide variant NM_007294.3(BRCA1):c.80+1G>A 80358010 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43124016 43124016 C T 70378 duplication NM_007294.3(BRCA1):c.80+2dupT 397509324 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41276032 41276032 A AA 70378 duplication NM_007294.3(BRCA1):c.80+2dupT 397509324 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43124015 43124015 A AA 70380 single nucleotide variant NM_007294.3(BRCA1):c.800C>G (p.Ser267Ter) 80357392 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246748 41246748 G C 70380 single nucleotide variant NM_007294.3(BRCA1):c.800C>G (p.Ser267Ter) 80357392 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094731 43094731 G C 70381 deletion NM_007294.3(BRCA1):c.809delA (p.His270Leufs) 80357965 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246739 41246739 T - 70381 deletion NM_007294.3(BRCA1):c.809delA (p.His270Leufs) 80357965 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094722 43094722 T - 70382 single nucleotide variant NM_007294.3(BRCA1):c.81-1G>C 80358018 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41267797 41267797 C G 70382 single nucleotide variant NM_007294.3(BRCA1):c.81-1G>C 80358018 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43115780 43115780 C G 70383 single nucleotide variant NM_007294.3(BRCA1):c.81-2A>G 397509326 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41267798 41267798 T C 70383 single nucleotide variant NM_007294.3(BRCA1):c.81-2A>G 397509326 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43115781 43115781 T C 70384 deletion NM_007294.3(BRCA1):c.81-2delA 273902791 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41267798 41267798 T - 70384 deletion NM_007294.3(BRCA1):c.81-2delA 273902791 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43115781 43115781 T - 70385 single nucleotide variant NM_007294.3(BRCA1):c.81-6T>A 80358179 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41267802 41267802 A T 70385 single nucleotide variant NM_007294.3(BRCA1):c.81-6T>A 80358179 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43115785 43115785 A T 70386 single nucleotide variant NM_007294.3(BRCA1):c.81-9C>G 80358127 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41267805 41267805 G C 70386 single nucleotide variant NM_007294.3(BRCA1):c.81-9C>G 80358127 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43115788 43115788 G C 70440 deletion NM_007294.3(BRCA1):c.985_986delAA (p.Asn329Terfs) 397509341 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094545 43094546 TT - 70387 single nucleotide variant NM_007294.3(BRCA1):c.811G>A (p.Val271Met) 80357244 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246737 41246737 C T 70387 single nucleotide variant NM_007294.3(BRCA1):c.811G>A (p.Val271Met) 80357244 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094720 43094720 C T 70388 single nucleotide variant NM_007294.3(BRCA1):c.811G>C (p.Val271Leu) 80357244 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145 17 41246737 41246737 C G 70388 single nucleotide variant NM_007294.3(BRCA1):c.811G>C (p.Val271Leu) 80357244 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145 17 43094720 43094720 C G 70389 duplication NM_007294.3(BRCA1):c.814_824dupGAGCCATGTGG (p.Thr276Serfs) 387906563 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246724 41246734 CCACATGGCTC CCACATGGCTCCCACATGGCTC 70389 duplication NM_007294.3(BRCA1):c.814_824dupGAGCCATGTGG (p.Thr276Serfs) 387906563 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094707 43094717 CCACATGGCTC CCACATGGCTCCCACATGGCTC 70390 duplication NM_007294.3(BRCA1):c.815_824dupAGCCATGTGG (p.Thr276Alafs) 387906563 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41246724 41246733 CCACATGGCT CCACATGGCTCCACATGGCT 70390 duplication NM_007294.3(BRCA1):c.815_824dupAGCCATGTGG (p.Thr276Alafs) 387906563 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43094707 43094716 CCACATGGCT CCACATGGCTCCACATGGCT 70391 single nucleotide variant NM_007294.3(BRCA1):c.822T>A (p.Cys274Ter) 80357331 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246726 41246726 A T 70391 single nucleotide variant NM_007294.3(BRCA1):c.822T>A (p.Cys274Ter) 80357331 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094709 43094709 A T 70392 single nucleotide variant NM_007294.3(BRCA1):c.823G>A (p.Gly275Ser) 8176153 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246725 41246725 C T 70392 single nucleotide variant NM_007294.3(BRCA1):c.823G>A (p.Gly275Ser) 8176153 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094708 43094708 C T 70393 single nucleotide variant NM_007294.3(BRCA1):c.824G>A (p.Gly275Asp) 397509327 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246724 41246724 C T 70393 single nucleotide variant NM_007294.3(BRCA1):c.824G>A (p.Gly275Asp) 397509327 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094707 43094707 C T 70394 single nucleotide variant NM_007294.3(BRCA1):c.825C>T (p.Gly275=) 397509328 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246723 41246723 G A 70394 single nucleotide variant NM_007294.3(BRCA1):c.825C>T (p.Gly275=) 397509328 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094706 43094706 G A 70395 insertion NM_007294.3(BRCA1):c.827_828insT (p.Asn277Lysfs) 397509329 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246720 41246721 - A 70395 insertion NM_007294.3(BRCA1):c.827_828insT (p.Asn277Lysfs) 397509329 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094703 43094704 - A 70396 deletion NM_007294.3(BRCA1):c.835delC (p.His279Metfs) 80357523 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246713 41246713 G - 70396 deletion NM_007294.3(BRCA1):c.835delC (p.His279Metfs) 80357523 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094696 43094696 G - 70397 single nucleotide variant NM_007294.3(BRCA1):c.836A>G (p.His279Arg) 80357482 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246712 41246712 T C 70397 single nucleotide variant NM_007294.3(BRCA1):c.836A>G (p.His279Arg) 80357482 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094695 43094695 T C 70398 single nucleotide variant NM_007294.3(BRCA1):c.839C>G (p.Ala280Gly) 80357199 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41246709 41246709 G C 70398 single nucleotide variant NM_007294.3(BRCA1):c.839C>G (p.Ala280Gly) 80357199 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43094692 43094692 G C 70399 single nucleotide variant NM_007294.3(BRCA1):c.83T>C (p.Leu28Pro) 80357266 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41267794 41267794 A G 70399 single nucleotide variant NM_007294.3(BRCA1):c.83T>C (p.Leu28Pro) 80357266 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43115777 43115777 A G 70400 deletion NM_007294.3(BRCA1):c.83_84delTG (p.Leu28Argfs) 80357728 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41267793 41267794 CA - 70400 deletion NM_007294.3(BRCA1):c.83_84delTG (p.Leu28Argfs) 80357728 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43115776 43115777 CA - 70402 duplication NM_007294.3(BRCA1):c.844_850dupTCATTAC (p.Gln284Leufs) 80357989 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;Human Phenotype Ontology:HP:0002859,MedGen:CN002584 17 41246698 41246704 GTAATGA GTAATGAGTAATGA 70402 duplication NM_007294.3(BRCA1):c.844_850dupTCATTAC (p.Gln284Leufs) 80357989 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;Human Phenotype Ontology:HP:0002859,MedGen:CN002584 17 43094681 43094687 GTAATGA GTAATGAGTAATGA 70403 single nucleotide variant NM_007294.3(BRCA1):c.848T>A (p.Leu283Ter) 273902792 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246700 41246700 A T 70403 single nucleotide variant NM_007294.3(BRCA1):c.848T>A (p.Leu283Ter) 273902792 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094683 43094683 A T 70404 single nucleotide variant NM_007294.3(BRCA1):c.848T>G (p.Leu283Ter) 273902792 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246700 41246700 A C 70404 single nucleotide variant NM_007294.3(BRCA1):c.848T>G (p.Leu283Ter) 273902792 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094683 43094683 A C 70405 single nucleotide variant NM_007294.3(BRCA1):c.850C>T (p.Gln284Ter) 397509330 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41246698 41246698 G A 70405 single nucleotide variant NM_007294.3(BRCA1):c.850C>T (p.Gln284Ter) 397509330 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43094681 43094681 G A 70406 single nucleotide variant NM_007294.3(BRCA1):c.851A>G (p.Gln284Arg) 80357039 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246697 41246697 T C 70406 single nucleotide variant NM_007294.3(BRCA1):c.851A>G (p.Gln284Arg) 80357039 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094680 43094680 T C 70407 deletion NM_007294.3(BRCA1):c.851_852delAG (p.Gln284Profs) 80357719 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246696 41246697 CT - 70407 deletion NM_007294.3(BRCA1):c.851_852delAG (p.Gln284Profs) 80357719 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094679 43094680 CT - 70408 single nucleotide variant NM_007294.3(BRCA1):c.889A>C (p.Met297Leu) 80357196 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246659 41246659 T G 70408 single nucleotide variant NM_007294.3(BRCA1):c.889A>C (p.Met297Leu) 80357196 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094642 43094642 T G 70409 single nucleotide variant NM_007294.3(BRCA1):c.890T>A (p.Met297Lys) 80356924 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246658 41246658 A T 70409 single nucleotide variant NM_007294.3(BRCA1):c.890T>A (p.Met297Lys) 80356924 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094641 43094641 A T 70410 single nucleotide variant NM_007294.3(BRCA1):c.891G>A (p.Met297Ile) 80357103 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246657 41246657 C T 70410 single nucleotide variant NM_007294.3(BRCA1):c.891G>A (p.Met297Ile) 80357103 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094640 43094640 C T 70411 deletion NM_007294.3(BRCA1):c.895_896delGT (p.Val299Argfs) 80357670 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246652 41246653 AC - 70411 deletion NM_007294.3(BRCA1):c.895_896delGT (p.Val299Argfs) 80357670 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094635 43094636 AC - 70412 single nucleotide variant NM_007294.3(BRCA1):c.89T>A (p.Leu30Ter) 397509331 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41267788 41267788 A T 70412 single nucleotide variant NM_007294.3(BRCA1):c.89T>A (p.Leu30Ter) 397509331 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43115771 43115771 A T 70413 single nucleotide variant NM_007294.3(BRCA1):c.8T>G (p.Leu3Ter) 397509332 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41276106 41276106 A C 70413 single nucleotide variant NM_007294.3(BRCA1):c.8T>G (p.Leu3Ter) 397509332 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43124089 43124089 A C 70414 single nucleotide variant NM_007294.3(BRCA1):c.900A>C (p.Glu300Asp) 80356861 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 41246648 41246648 T G 70414 single nucleotide variant NM_007294.3(BRCA1):c.900A>C (p.Glu300Asp) 80356861 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 17 43094631 43094631 T G 70415 insertion NM_007294.3(BRCA1):c.903_904insC (p.Ala302Argfs) 397509333 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246644 41246645 - G 70415 insertion NM_007294.3(BRCA1):c.903_904insC (p.Ala302Argfs) 397509333 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094627 43094628 - G 70416 deletion NM_007294.3(BRCA1):c.904delG (p.Ala302Leufs) 273903793 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246644 41246644 C - 70416 deletion NM_007294.3(BRCA1):c.904delG (p.Ala302Leufs) 273903793 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094627 43094627 C - 70417 deletion NM_007294.3(BRCA1):c.909delA (p.Glu303Aspfs) 397509334 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246639 41246639 T - 70417 deletion NM_007294.3(BRCA1):c.909delA (p.Glu303Aspfs) 397509334 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094622 43094622 T - 70418 deletion NM_007294.3(BRCA1):c.911delT (p.Phe304Serfs) 80357622 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246637 41246637 A - 70418 deletion NM_007294.3(BRCA1):c.911delT (p.Phe304Serfs) 80357622 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094620 43094620 A - 70419 deletion NM_007294.3(BRCA1):c.922_923delAG (p.Ser308Glnfs) 80357644 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246625 41246626 CT - 70419 deletion NM_007294.3(BRCA1):c.922_923delAG (p.Ser308Glnfs) 80357644 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094608 43094609 CT - 70420 indel NM_007294.3(BRCA1):c.922_924delAGCinsT (p.Ser308Terfs) 397509335 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246624 41246626 GCT A 70420 indel NM_007294.3(BRCA1):c.922_924delAGCinsT (p.Ser308Terfs) 397509335 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094607 43094609 GCT A 70421 deletion NM_007294.3(BRCA1):c.923delG (p.Ser308Thrfs) 80357953 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 41246625 41246625 C - 70421 deletion NM_007294.3(BRCA1):c.923delG (p.Ser308Thrfs) 80357953 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 17 43094608 43094608 C - 70422 deletion NM_007294.3(BRCA1):c.924delC (p.Ser308Argfs) 397509336 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246624 41246624 G - 70422 deletion NM_007294.3(BRCA1):c.924delC (p.Ser308Argfs) 397509336 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094607 43094607 G - 70423 single nucleotide variant NM_007294.3(BRCA1):c.926A>C (p.Lys309Thr) 80356877 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246622 41246622 T G 70423 single nucleotide variant NM_007294.3(BRCA1):c.926A>C (p.Lys309Thr) 80356877 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094605 43094605 T G 70424 deletion NM_007294.3(BRCA1):c.927delA (p.Lys309Asnfs) 397509337 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246621 41246621 T - 70424 deletion NM_007294.3(BRCA1):c.927delA (p.Lys309Asnfs) 397509337 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094604 43094604 T - 70425 single nucleotide variant NM_007294.3(BRCA1):c.928C>T (p.Gln310Ter) 397509338 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246620 41246620 G A 70425 single nucleotide variant NM_007294.3(BRCA1):c.928C>T (p.Gln310Ter) 397509338 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094603 43094603 G A 70426 deletion NM_007294.3(BRCA1):c.930delG (p.Gln310Hisfs) 80357689 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246618 41246618 C - 70426 deletion NM_007294.3(BRCA1):c.930delG (p.Gln310Hisfs) 80357689 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094601 43094601 C - 70427 single nucleotide variant NM_007294.3(BRCA1):c.93C>G (p.Ile31Met) 80357000 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41267784 41267784 G C 70427 single nucleotide variant NM_007294.3(BRCA1):c.93C>G (p.Ile31Met) 80357000 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43115767 43115767 G C 70428 single nucleotide variant NM_007294.3(BRCA1):c.943A>G (p.Arg315Gly) 80357050 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246605 41246605 T C 70428 single nucleotide variant NM_007294.3(BRCA1):c.943A>G (p.Arg315Gly) 80357050 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094588 43094588 T C 70429 single nucleotide variant NM_007294.3(BRCA1):c.949C>T (p.Gln317Ter) 80357211 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246599 41246599 G A 70429 single nucleotide variant NM_007294.3(BRCA1):c.949C>T (p.Gln317Ter) 80357211 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094582 43094582 G A 70430 deletion NM_007294.3(BRCA1):c.949_953delCAACA (p.Gln317Terfs) 80357555 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246595 41246599 TGTTG - 70430 deletion NM_007294.3(BRCA1):c.949_953delCAACA (p.Gln317Terfs) 80357555 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094578 43094582 TGTTG - 70431 deletion NM_007294.3(BRCA1):c.959_960delGA (p.Arg320Metfs) 397509339 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246588 41246589 TC - 70431 deletion NM_007294.3(BRCA1):c.959_960delGA (p.Arg320Metfs) 397509339 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094571 43094572 TC - 70432 deletion NM_007294.3(BRCA1):c.961delT (p.Trp321Glyfs) 397509340 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246587 41246587 A - 70432 deletion NM_007294.3(BRCA1):c.961delT (p.Trp321Glyfs) 397509340 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094570 43094570 A - 70433 single nucleotide variant NM_007294.3(BRCA1):c.964G>A (p.Ala322Thr) 80357252 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41246584 41246584 C T 70433 single nucleotide variant NM_007294.3(BRCA1):c.964G>A (p.Ala322Thr) 80357252 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43094567 43094567 C T 70434 single nucleotide variant NM_007294.3(BRCA1):c.964G>C (p.Ala322Pro) 80357252 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41246584 41246584 C G 70434 single nucleotide variant NM_007294.3(BRCA1):c.964G>C (p.Ala322Pro) 80357252 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43094567 43094567 C G 70435 deletion NM_007294.3(BRCA1):c.964delG (p.Ala322Leufs) 273903794 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246584 41246584 C - 70435 deletion NM_007294.3(BRCA1):c.964delG (p.Ala322Leufs) 273903794 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094567 43094567 C - 70436 single nucleotide variant NM_007294.3(BRCA1):c.97G>C (p.Glu33Gln) 80357066 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41267780 41267780 C G 70436 single nucleotide variant NM_007294.3(BRCA1):c.97G>C (p.Glu33Gln) 80357066 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43115763 43115763 C G 70437 deletion NM_007294.3(BRCA1):c.980_981delCA (p.Thr327Metfs) 80357610 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246567 41246568 TG - 70437 deletion NM_007294.3(BRCA1):c.980_981delCA (p.Thr327Metfs) 80357610 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094550 43094551 TG - 70438 single nucleotide variant NM_007294.3(BRCA1):c.981A>G (p.Thr327=) 1800063 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246567 41246567 T C 70438 single nucleotide variant NM_007294.3(BRCA1):c.981A>G (p.Thr327=) 1800063 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094550 43094550 T C 70439 deletion NM_007294.3(BRCA1):c.981_982delAT (p.Cys328Terfs) 80357772 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41246566 41246567 AT - 70439 deletion NM_007294.3(BRCA1):c.981_982delAT (p.Cys328Terfs) 80357772 MedGen:CN221572;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43094549 43094550 AT - 70440 deletion NM_007294.3(BRCA1):c.985_986delAA (p.Asn329Terfs) 397509341 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246562 41246563 TT - 70441 single nucleotide variant NM_007294.3(BRCA1):c.993G>C (p.Arg331Ser) 80357140 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246555 41246555 C G 70441 single nucleotide variant NM_007294.3(BRCA1):c.993G>C (p.Arg331Ser) 80357140 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094538 43094538 C G 70442 single nucleotide variant NM_007294.3(BRCA1):c.994C>T (p.Arg332Trp) 80357176 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246554 41246554 G A 70442 single nucleotide variant NM_007294.3(BRCA1):c.994C>T (p.Arg332Trp) 80357176 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094537 43094537 G A 70443 single nucleotide variant NM_007294.3(BRCA1):c.995G>A (p.Arg332Gln) 80357464 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246553 41246553 C T 70443 single nucleotide variant NM_007294.3(BRCA1):c.995G>A (p.Arg332Gln) 80357464 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094536 43094536 C T 70444 single nucleotide variant NM_007294.3(BRCA1):c.996G>T (p.Arg332=) 80356836 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246552 41246552 C A 70444 single nucleotide variant NM_007294.3(BRCA1):c.996G>T (p.Arg332=) 80356836 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094535 43094535 C A 94598 deletion NM_007294.3(BRCA1):c.135-?_441+?del -1 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145 17 41256139 41258550 na na 94599 single nucleotide variant NM_007294.3(BRCA1):c.2518A>T (p.Ser840Cys) 377475866 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 41245030 41245030 T A 94599 single nucleotide variant NM_007294.3(BRCA1):c.2518A>T (p.Ser840Cys) 377475866 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 43093013 43093013 T A 94600 duplication NM_007294.3(BRCA1):c.302-?_441+?(2) -1 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256139 41256278 na na 94601 single nucleotide variant NM_007294.3(BRCA1):c.339C>G (p.Asn113Lys) 587779367 MedGen:CN169374 17 41256241 41256241 G C 94601 single nucleotide variant NM_007294.3(BRCA1):c.339C>G (p.Asn113Lys) 587779367 MedGen:CN169374 17 43104224 43104224 G C 94602 single nucleotide variant NM_007294.3(BRCA1):c.3555G>T (p.Glu1185Asp) 587779368 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41243993 41243993 C A 94602 single nucleotide variant NM_007294.3(BRCA1):c.3555G>T (p.Glu1185Asp) 587779368 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43091976 43091976 C A 94603 single nucleotide variant NM_007294.3(BRCA1):c.3619A>G (p.Lys1207Glu) 80357455 MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 41243929 41243929 T C 94603 single nucleotide variant NM_007294.3(BRCA1):c.3619A>G (p.Lys1207Glu) 80357455 MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 43091912 43091912 T C 94604 deletion NM_007294.3(BRCA1):c.4186-?_4675+?del -1 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41226348 41234592 na na 94604 deletion NM_007294.3(BRCA1):c.4186-?_4675+?del -1 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43074331 43082575 na na 94605 deletion NM_007294.3(BRCA1):c.4186-?_4986+?del -1 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41222945 41234592 na na 94606 deletion NM_007294.3(BRCA1):c.4358-?_5277+?del -1 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145 17 41209069 41228631 na na 94606 deletion NM_007294.3(BRCA1):c.4358-?_5277+?del -1 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145 17 43057052 43076614 na na 94607 single nucleotide variant NM_007294.3(BRCA1):c.4410A>T (p.Glu1470Asp) 80357075 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41228579 41228579 T A 94607 single nucleotide variant NM_007294.3(BRCA1):c.4410A>T (p.Glu1470Asp) 80357075 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43076562 43076562 T A 94608 duplication NM_007294.3(BRCA1):c.442-?_547+?(2) -1 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41251792 41251897 na na 94609 deletion NM_007294.3(BRCA1):c.4485-?_4986+?del -1 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41222945 41226538 na na 94609 deletion NM_007294.3(BRCA1):c.4485-?_4986+?del -1 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43070928 43074521 na na 94610 deletion NM_007294.3(BRCA1):c.4987-?_5074+?del -1 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145 17 41219625 41219712 na na 94610 deletion NM_007294.3(BRCA1):c.4987-?_5074+?del -1 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145 17 43067608 43067695 na na 94611 deletion NM_007294.3(BRCA1):c.?-232_4484+?del -1 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41228505 41277500 na na 94612 deletion NM_007294.3(BRCA1):c.548-?_5193+?del -1 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41215891 41249306 na na 94612 deletion NM_007294.3(BRCA1):c.548-?_5193+?del -1 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43063333 43097289 na na 97015 single nucleotide variant NM_007294.3(BRCA1):c.-19-8T>C 398122626 MedGen:C2676676,OMIM:604370 17 41276140 41276140 A G 97015 single nucleotide variant NM_007294.3(BRCA1):c.-19-8T>C 398122626 MedGen:C2676676,OMIM:604370 17 43124123 43124123 A G 97016 deletion NM_007294.3(BRCA1):c.1086_1141del56 (p.Asn363Serfs) 80359875 MedGen:C2676676,OMIM:604370 17 41246407 41246462 na na 97016 deletion NM_007294.3(BRCA1):c.1086_1141del56 (p.Asn363Serfs) 80359875 MedGen:C2676676,OMIM:604370 17 43094390 43094445 na na 97017 single nucleotide variant NM_007294.3(BRCA1):c.1093A>T (p.Arg365Ter) 398122627 MedGen:C2676676,OMIM:604370 17 41246455 41246455 T A 97017 single nucleotide variant NM_007294.3(BRCA1):c.1093A>T (p.Arg365Ter) 398122627 MedGen:C2676676,OMIM:604370 17 43094438 43094438 T A 97018 single nucleotide variant NM_007294.3(BRCA1):c.1202G>C (p.Gly401Ala) 397507184 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246346 41246346 C G 97018 single nucleotide variant NM_007294.3(BRCA1):c.1202G>C (p.Gly401Ala) 397507184 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094329 43094329 C G 97019 single nucleotide variant NM_007294.3(BRCA1):c.1256T>G (p.Val419Gly) 398122628 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41246292 41246292 A C 97019 single nucleotide variant NM_007294.3(BRCA1):c.1256T>G (p.Val419Gly) 398122628 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43094275 43094275 A C 97020 deletion NM_007294.3(BRCA1):c.1292delT (p.Leu431Tyrfs) 398122629 MedGen:C2676676,OMIM:604370 17 41246256 41246256 A - 97020 deletion NM_007294.3(BRCA1):c.1292delT (p.Leu431Tyrfs) 398122629 MedGen:C2676676,OMIM:604370 17 43094239 43094239 A - 97021 duplication NM_007294.3(BRCA1):c.1326_1327insGT (p.Lys443Valfs) 80357543 MedGen:C2676676,OMIM:604370 17 41246222 41246223 AC ACAC 97021 duplication NM_007294.3(BRCA1):c.1326_1327insGT (p.Lys443Valfs) 80357543 MedGen:C2676676,OMIM:604370 17 43094205 43094206 AC ACAC 97022 single nucleotide variant NM_007294.3(BRCA1):c.1327A>T (p.Lys443Ter) 398122630 MedGen:CN221572;MedGen:C2676676,OMIM:604370 17 41246221 41246221 T A 97022 single nucleotide variant NM_007294.3(BRCA1):c.1327A>T (p.Lys443Ter) 398122630 MedGen:CN221572;MedGen:C2676676,OMIM:604370 17 43094204 43094204 T A 97023 duplication NM_007294.3(BRCA1):c.1336dupA (p.Arg446Lysfs) 398122631 MedGen:C2676676,OMIM:604370 17 41246212 41246212 T TT 97023 duplication NM_007294.3(BRCA1):c.1336dupA (p.Arg446Lysfs) 398122631 MedGen:C2676676,OMIM:604370 17 43094195 43094195 T TT 97024 single nucleotide variant NM_007294.3(BRCA1):c.134+2T>C 80358131 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41267741 41267741 A G 97024 single nucleotide variant NM_007294.3(BRCA1):c.134+2T>C 80358131 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43115724 43115724 A G 97025 single nucleotide variant NM_007294.3(BRCA1):c.134+5G>A 80358038 MedGen:C2676676,OMIM:604370 17 41267738 41267738 C T 97025 single nucleotide variant NM_007294.3(BRCA1):c.134+5G>A 80358038 MedGen:C2676676,OMIM:604370 17 43115721 43115721 C T 97026 deletion NM_007294.3(BRCA1):c.1361delG (p.Ser454Ilefs) 398122632 MedGen:C2676676,OMIM:604370 17 41246187 41246187 C - 97026 deletion NM_007294.3(BRCA1):c.1361delG (p.Ser454Ilefs) 398122632 MedGen:C2676676,OMIM:604370 17 43094170 43094170 C - 97027 deletion NM_007294.3(BRCA1):c.1377_1378delAA (p.Lys459Asnfs) 398122633 MedGen:C2676676,OMIM:604370 17 41246170 41246171 TT - 97027 deletion NM_007294.3(BRCA1):c.1377_1378delAA (p.Lys459Asnfs) 398122633 MedGen:C2676676,OMIM:604370 17 43094153 43094154 TT - 97028 single nucleotide variant NM_007294.3(BRCA1):c.1379T>G (p.Ile460Arg) 398122634 MedGen:C2676676,OMIM:604370 17 41246169 41246169 A C 97028 single nucleotide variant NM_007294.3(BRCA1):c.1379T>G (p.Ile460Arg) 398122634 MedGen:C2676676,OMIM:604370 17 43094152 43094152 A C 97029 single nucleotide variant NM_007294.3(BRCA1):c.1397G>A (p.Arg466Gln) 199540030 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246151 41246151 C T 97029 single nucleotide variant NM_007294.3(BRCA1):c.1397G>A (p.Arg466Gln) 199540030 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094134 43094134 C T 97030 single nucleotide variant NM_007294.3(BRCA1):c.141C>A (p.Cys47Ter) 398122635 MedGen:C2676676,OMIM:604370 17 41258544 41258544 G T 97030 single nucleotide variant NM_007294.3(BRCA1):c.141C>A (p.Cys47Ter) 398122635 MedGen:C2676676,OMIM:604370 17 43106527 43106527 G T 97031 duplication NM_007294.3(BRCA1):c.1512dupT (p.Lys505Terfs) 398122636 MedGen:C2676676,OMIM:604370 17 41246036 41246036 A AA 97031 duplication NM_007294.3(BRCA1):c.1512dupT (p.Lys505Terfs) 398122636 MedGen:C2676676,OMIM:604370 17 43094019 43094019 A AA 97032 single nucleotide variant NM_007294.3(BRCA1):c.1523C>T (p.Pro508Leu) 398122637 MedGen:C2676676,OMIM:604370 17 41246025 41246025 G A 97032 single nucleotide variant NM_007294.3(BRCA1):c.1523C>T (p.Pro508Leu) 398122637 MedGen:C2676676,OMIM:604370 17 43094008 43094008 G A 97033 single nucleotide variant NM_007294.3(BRCA1):c.154C>A (p.Leu52Ile) 80357084 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41258531 41258531 G T 97033 single nucleotide variant NM_007294.3(BRCA1):c.154C>A (p.Leu52Ile) 80357084 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43106514 43106514 G T 97034 single nucleotide variant NM_007294.3(BRCA1):c.1607C>G (p.Thr536Ser) 398122638 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41245941 41245941 G C 97034 single nucleotide variant NM_007294.3(BRCA1):c.1607C>G (p.Thr536Ser) 398122638 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43093924 43093924 G C 97035 single nucleotide variant NM_007294.3(BRCA1):c.1609A>G (p.Asn537Asp) 398122639 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245939 41245939 T C 97035 single nucleotide variant NM_007294.3(BRCA1):c.1609A>G (p.Asn537Asp) 398122639 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093922 43093922 T C 97036 single nucleotide variant NM_007294.3(BRCA1):c.160C>A (p.Gln54Lys) 80356864 MedGen:C2676676,OMIM:604370 17 41258525 41258525 G T 97036 single nucleotide variant NM_007294.3(BRCA1):c.160C>A (p.Gln54Lys) 80356864 MedGen:C2676676,OMIM:604370 17 43106508 43106508 G T 97037 deletion NM_007294.3(BRCA1):c.1628delG (p.Gly543Valfs) 398122640 MedGen:C2676676,OMIM:604370 17 41245920 41245920 C - 97037 deletion NM_007294.3(BRCA1):c.1628delG (p.Gly543Valfs) 398122640 MedGen:C2676676,OMIM:604370 17 43093903 43093903 C - 97038 deletion NM_007294.3(BRCA1):c.1744delA (p.Thr582Argfs) 398122641 MedGen:C2676676,OMIM:604370 17 41245804 41245804 T - 97038 deletion NM_007294.3(BRCA1):c.1744delA (p.Thr582Argfs) 398122641 MedGen:C2676676,OMIM:604370 17 43093787 43093787 T - 97039 single nucleotide variant NM_007294.3(BRCA1):c.1747A>G (p.Lys583Glu) 80356928 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245801 41245801 T C 97039 single nucleotide variant NM_007294.3(BRCA1):c.1747A>G (p.Lys583Glu) 80356928 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093784 43093784 T C 97040 deletion NM_007294.3(BRCA1):c.1759delA (p.Ile587Terfs) 398122642 MedGen:C2676676,OMIM:604370 17 41245789 41245789 T - 97040 deletion NM_007294.3(BRCA1):c.1759delA (p.Ile587Terfs) 398122642 MedGen:C2676676,OMIM:604370 17 43093772 43093772 T - 97041 single nucleotide variant NM_007294.3(BRCA1):c.1799T>G (p.Ile600Ser) 398122643 MedGen:C2676676,OMIM:604370 17 41245749 41245749 A C 97041 single nucleotide variant NM_007294.3(BRCA1):c.1799T>G (p.Ile600Ser) 398122643 MedGen:C2676676,OMIM:604370 17 43093732 43093732 A C 97042 single nucleotide variant NM_007294.3(BRCA1):c.1828A>G (p.Arg610Gly) 398122644 MedGen:C2676676,OMIM:604370 17 41245720 41245720 T C 97042 single nucleotide variant NM_007294.3(BRCA1):c.1828A>G (p.Arg610Gly) 398122644 MedGen:C2676676,OMIM:604370 17 43093703 43093703 T C 97043 single nucleotide variant NM_007294.3(BRCA1):c.1844C>T (p.Ser615Phe) 398122645 MedGen:C2676676,OMIM:604370 17 41245704 41245704 G A 97043 single nucleotide variant NM_007294.3(BRCA1):c.1844C>T (p.Ser615Phe) 398122645 MedGen:C2676676,OMIM:604370 17 43093687 43093687 G A 97044 deletion NM_007294.3(BRCA1):c.1875delA (p.Val626Terfs) 398122646 MedGen:C2676676,OMIM:604370 17 41245673 41245673 T - 97044 deletion NM_007294.3(BRCA1):c.1875delA (p.Val626Terfs) 398122646 MedGen:C2676676,OMIM:604370 17 43093656 43093656 T - 97045 single nucleotide variant NM_007294.3(BRCA1):c.1898C>T (p.Pro633Leu) 398122647 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41245650 41245650 G A 97045 single nucleotide variant NM_007294.3(BRCA1):c.1898C>T (p.Pro633Leu) 398122647 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43093633 43093633 G A 97046 insertion NM_007294.3(BRCA1):c.18_19insG (p.Arg7Alafs) 398122648 MedGen:C2676676,OMIM:604370 17 41276095 41276096 - C 97046 insertion NM_007294.3(BRCA1):c.18_19insG (p.Arg7Alafs) 398122648 MedGen:C2676676,OMIM:604370 17 43124078 43124079 - C 97047 single nucleotide variant NM_007294.3(BRCA1):c.1907G>A (p.Cys636Tyr) 398122649 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245641 41245641 C T 97047 single nucleotide variant NM_007294.3(BRCA1):c.1907G>A (p.Cys636Tyr) 398122649 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093624 43093624 C T 97048 deletion NM_007294.3(BRCA1):c.1921delA (p.Ile641Leufs) 398122650 MedGen:C2676676,OMIM:604370 17 41245627 41245627 T - 97048 deletion NM_007294.3(BRCA1):c.1921delA (p.Ile641Leufs) 398122650 MedGen:C2676676,OMIM:604370 17 43093610 43093610 T - 97049 single nucleotide variant NM_007294.3(BRCA1):c.199G>A (p.Asp67Asn) 80357102 MedGen:C2676676,OMIM:604370 17 41258486 41258486 C T 97049 single nucleotide variant NM_007294.3(BRCA1):c.199G>A (p.Asp67Asn) 80357102 MedGen:C2676676,OMIM:604370 17 43106469 43106469 C T 97050 deletion NM_007294.3(BRCA1):c.203_204delTA (p.Ile68Asnfs) 398122651 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41258481 41258482 TA - 97050 deletion NM_007294.3(BRCA1):c.203_204delTA (p.Ile68Asnfs) 398122651 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43106464 43106465 TA - 97051 deletion NM_007294.3(BRCA1):c.2070_2071delAA (p.Arg691Thrfs) 273898676 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41245477 41245478 TT - 97051 deletion NM_007294.3(BRCA1):c.2070_2071delAA (p.Arg691Thrfs) 273898676 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43093460 43093461 TT - 97052 single nucleotide variant NM_007294.3(BRCA1):c.212+4T>A 398122652 MedGen:C2676676,OMIM:604370 17 41258469 41258469 A T 97052 single nucleotide variant NM_007294.3(BRCA1):c.212+4T>A 398122652 MedGen:C2676676,OMIM:604370 17 43106452 43106452 A T 97053 single nucleotide variant NM_007294.3(BRCA1):c.2123C>T (p.Ser708Phe) 80357182 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245425 41245425 G A 97053 single nucleotide variant NM_007294.3(BRCA1):c.2123C>T (p.Ser708Phe) 80357182 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093408 43093408 G A 97054 deletion NM_007294.3(BRCA1):c.2131_2132delAA (p.Lys711Valfs) 398122653 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41245416 41245417 TT - 97054 deletion NM_007294.3(BRCA1):c.2131_2132delAA (p.Lys711Valfs) 398122653 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43093399 43093400 TT - 97055 deletion NM_007294.3(BRCA1):c.2199delG (p.Lys734Asnfs) 80357944 MedGen:C2676676,OMIM:604370;MedGen:CN221809 17 41245349 41245349 C - 97055 deletion NM_007294.3(BRCA1):c.2199delG (p.Lys734Asnfs) 80357944 MedGen:C2676676,OMIM:604370;MedGen:CN221809 17 43093332 43093332 C - 97057 insertion NM_007294.3(BRCA1):c.2246_2247insGA (p.Asp749Glufs) 398122654 MedGen:C2676676,OMIM:604370 17 41245301 41245302 - TC 97057 insertion NM_007294.3(BRCA1):c.2246_2247insGA (p.Asp749Glufs) 398122654 MedGen:C2676676,OMIM:604370 17 43093284 43093285 - TC 97058 single nucleotide variant NM_007294.3(BRCA1):c.2296A>G (p.Ser766Gly) 398122655 MedGen:C2676676,OMIM:604370 17 41245252 41245252 T C 97058 single nucleotide variant NM_007294.3(BRCA1):c.2296A>G (p.Ser766Gly) 398122655 MedGen:C2676676,OMIM:604370 17 43093235 43093235 T C 97059 single nucleotide variant NM_007294.3(BRCA1):c.2299A>T (p.Ser767Cys) 80357194 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41245249 41245249 T A 97059 single nucleotide variant NM_007294.3(BRCA1):c.2299A>T (p.Ser767Cys) 80357194 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43093232 43093232 T A 97060 single nucleotide variant NM_007294.3(BRCA1):c.2302A>G (p.Ser768Gly) 398122656 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41245246 41245246 T C 97060 single nucleotide variant NM_007294.3(BRCA1):c.2302A>G (p.Ser768Gly) 398122656 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43093229 43093229 T C 97061 single nucleotide variant NM_007294.3(BRCA1):c.2338C>G (p.Gln780Glu) 80356945 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245210 41245210 G C 97061 single nucleotide variant NM_007294.3(BRCA1):c.2338C>G (p.Gln780Glu) 80356945 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093193 43093193 G C 97062 duplication NM_007294.3(BRCA1):c.2386dupA (p.Thr796Asnfs) 398122657 MedGen:C2676676,OMIM:604370 17 41245162 41245162 T TT 97062 duplication NM_007294.3(BRCA1):c.2386dupA (p.Thr796Asnfs) 398122657 MedGen:C2676676,OMIM:604370 17 43093145 43093145 T TT 97063 single nucleotide variant NM_007294.3(BRCA1):c.2389G>A (p.Glu797Lys) 62625306 MedGen:C2676676,OMIM:604370 17 41245159 41245159 C T 97063 single nucleotide variant NM_007294.3(BRCA1):c.2389G>A (p.Glu797Lys) 62625306 MedGen:C2676676,OMIM:604370 17 43093142 43093142 C T 97064 single nucleotide variant NM_007294.3(BRCA1):c.2392C>T (p.Pro798Ser) 398122658 MedGen:C2676676,OMIM:604370 17 41245156 41245156 G A 97064 single nucleotide variant NM_007294.3(BRCA1):c.2392C>T (p.Pro798Ser) 398122658 MedGen:C2676676,OMIM:604370 17 43093139 43093139 G A 97065 deletion NM_007294.3(BRCA1):c.241_251delCAACTTGTTGA (p.Gln81Argfs) 398122659 MedGen:C2676676,OMIM:604370 17 41256935 41256945 TCAACAAGTTG - 97065 deletion NM_007294.3(BRCA1):c.241_251delCAACTTGTTGA (p.Gln81Argfs) 398122659 MedGen:C2676676,OMIM:604370 17 43104918 43104928 TCAACAAGTTG - 97066 single nucleotide variant NM_007294.3(BRCA1):c.2423T>C (p.Phe808Ser) 398122660 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 41245125 41245125 A G 97066 single nucleotide variant NM_007294.3(BRCA1):c.2423T>C (p.Phe808Ser) 398122660 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 43093108 43093108 A G 97067 insertion NM_007294.3(BRCA1):c.2504_2505ins17 (p.?) 483353078 MedGen:C2676676,OMIM:604370 17 41245043 41245044 na na 97067 insertion NM_007294.3(BRCA1):c.2504_2505ins17 (p.?) 483353078 MedGen:C2676676,OMIM:604370 17 43093026 43093027 na na 97068 single nucleotide variant NM_007294.3(BRCA1):c.250G>T (p.Glu84Ter) 398122661 MedGen:C2676676,OMIM:604370 17 41256936 41256936 C A 97068 single nucleotide variant NM_007294.3(BRCA1):c.250G>T (p.Glu84Ter) 398122661 MedGen:C2676676,OMIM:604370 17 43104919 43104919 C A 97069 single nucleotide variant NM_007294.3(BRCA1):c.2525A>G (p.Glu842Gly) 28897684 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245023 41245023 T C 97069 single nucleotide variant NM_007294.3(BRCA1):c.2525A>G (p.Glu842Gly) 28897684 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093006 43093006 T C 97070 single nucleotide variant NM_007294.3(BRCA1):c.2551G>A (p.Glu851Lys) 398122662 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 41244997 41244997 C T 97070 single nucleotide variant NM_007294.3(BRCA1):c.2551G>A (p.Glu851Lys) 398122662 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 43092980 43092980 C T 97071 single nucleotide variant NM_007294.3(BRCA1):c.2612C>G (p.Pro871Arg) 799917 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41244936 41244936 G C 97071 single nucleotide variant NM_007294.3(BRCA1):c.2612C>G (p.Pro871Arg) 799917 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43092919 43092919 G C 97072 deletion NM_007294.3(BRCA1):c.2654delT (p.Phe885Serfs) 398122663 MedGen:C2676676,OMIM:604370 17 41244894 41244894 A - 97072 deletion NM_007294.3(BRCA1):c.2654delT (p.Phe885Serfs) 398122663 MedGen:C2676676,OMIM:604370 17 43092877 43092877 A - 97073 duplication NM_007294.3(BRCA1):c.2686dupA (p.Ser896Lysfs) 398122664 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41244862 41244862 T TT 97073 duplication NM_007294.3(BRCA1):c.2686dupA (p.Ser896Lysfs) 398122664 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43092845 43092845 T TT 97074 single nucleotide variant NM_007294.3(BRCA1):c.2706A>C (p.Glu902Asp) 398122665 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41244842 41244842 T G 97074 single nucleotide variant NM_007294.3(BRCA1):c.2706A>C (p.Glu902Asp) 398122665 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43092825 43092825 T G 97075 single nucleotide variant NM_007294.3(BRCA1):c.2746A>T (p.Asn916Tyr) 398122666 MedGen:C2676676,OMIM:604370 17 41244802 41244802 T A 97075 single nucleotide variant NM_007294.3(BRCA1):c.2746A>T (p.Asn916Tyr) 398122666 MedGen:C2676676,OMIM:604370 17 43092785 43092785 T A 97076 deletion NM_007294.3(BRCA1):c.2748delT (p.Asn916Lysfs) 398122667 MedGen:C2676676,OMIM:604370 17 41244800 41244800 A - 97076 deletion NM_007294.3(BRCA1):c.2748delT (p.Asn916Lysfs) 398122667 MedGen:C2676676,OMIM:604370 17 43092783 43092783 A - 97077 single nucleotide variant NM_007294.3(BRCA1):c.2754G>T (p.Lys918Asn) 398122668 MedGen:C2676676,OMIM:604370 17 41244794 41244794 C A 97077 single nucleotide variant NM_007294.3(BRCA1):c.2754G>T (p.Lys918Asn) 398122668 MedGen:C2676676,OMIM:604370 17 43092777 43092777 C A 97078 deletion NM_007294.3(BRCA1):c.2774delT (p.Ile925Thrfs) 398122669 MedGen:C2676676,OMIM:604370 17 41244774 41244774 A - 97078 deletion NM_007294.3(BRCA1):c.2774delT (p.Ile925Thrfs) 398122669 MedGen:C2676676,OMIM:604370 17 43092757 43092757 A - 97079 duplication NM_007294.3(BRCA1):c.2902_2903insTC (p.Pro968Leufs) 398122670 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41244646 41244647 GA GAGA 97079 duplication NM_007294.3(BRCA1):c.2902_2903insTC (p.Pro968Leufs) 398122670 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43092629 43092630 GA GAGA 97080 deletion NM_007294.3(BRCA1):c.2940delA (p.Pro981Hisfs) 80357876 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41244608 41244608 T - 97080 deletion NM_007294.3(BRCA1):c.2940delA (p.Pro981Hisfs) 80357876 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43092591 43092591 T - 97081 single nucleotide variant NM_007294.3(BRCA1):c.3041T>C (p.Met1014Thr) 80357020 MedGen:C2676676,OMIM:604370 17 41244507 41244507 A G 97081 single nucleotide variant NM_007294.3(BRCA1):c.3041T>C (p.Met1014Thr) 80357020 MedGen:C2676676,OMIM:604370 17 43092490 43092490 A G 97082 single nucleotide variant NM_007294.3(BRCA1):c.3151A>G (p.Thr1051Ala) 398122671 MedGen:C2676676,OMIM:604370 17 41244397 41244397 T C 97082 single nucleotide variant NM_007294.3(BRCA1):c.3151A>G (p.Thr1051Ala) 398122671 MedGen:C2676676,OMIM:604370 17 43092380 43092380 T C 97083 single nucleotide variant NM_007294.3(BRCA1):c.3155A>G (p.Asn1052Ser) 398122672 MedGen:C2676676,OMIM:604370 17 41244393 41244393 T C 97083 single nucleotide variant NM_007294.3(BRCA1):c.3155A>G (p.Asn1052Ser) 398122672 MedGen:C2676676,OMIM:604370 17 43092376 43092376 T C 97084 deletion NM_007294.3(BRCA1):c.3204delT (p.Gln1069Lysfs) 398122673 MedGen:C2676676,OMIM:604370 17 41244344 41244344 A - 97084 deletion NM_007294.3(BRCA1):c.3204delT (p.Gln1069Lysfs) 398122673 MedGen:C2676676,OMIM:604370 17 43092327 43092327 A - 97086 deletion NM_007294.3(BRCA1):c.3599_3600delAG (p.Gln1200Argfs) 398122674 MedGen:C2676676,OMIM:604370 17 41243948 41243949 CT - 97086 deletion NM_007294.3(BRCA1):c.3599_3600delAG (p.Gln1200Argfs) 398122674 MedGen:C2676676,OMIM:604370 17 43091931 43091932 CT - 97087 single nucleotide variant NM_007294.3(BRCA1):c.3642G>T (p.Glu1214Asp) 398122675 MedGen:C2676676,OMIM:604370 17 41243906 41243906 C A 97087 single nucleotide variant NM_007294.3(BRCA1):c.3642G>T (p.Glu1214Asp) 398122675 MedGen:C2676676,OMIM:604370 17 43091889 43091889 C A 97088 single nucleotide variant NM_007294.3(BRCA1):c.3650C>G (p.Ser1217Cys) 398122676 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 41243898 41243898 G C 97088 single nucleotide variant NM_007294.3(BRCA1):c.3650C>G (p.Ser1217Cys) 398122676 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 43091881 43091881 G C 97089 deletion NM_007294.3(BRCA1):c.3672delC (p.Cys1225Alafs) 398122677 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41243876 41243876 G - 97089 deletion NM_007294.3(BRCA1):c.3672delC (p.Cys1225Alafs) 398122677 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43091859 43091859 G - 97091 insertion NM_007294.3(BRCA1):c.3761_3762insTT (p.Lys1254Asnfs) 80357928 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41243786 41243787 - AA 97091 insertion NM_007294.3(BRCA1):c.3761_3762insTT (p.Lys1254Asnfs) 80357928 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43091769 43091770 - AA 97092 single nucleotide variant NM_007294.3(BRCA1):c.3798C>G (p.Ser1266Arg) 200648498 MedGen:C2676676,OMIM:604370 17 41243750 41243750 G C 97092 single nucleotide variant NM_007294.3(BRCA1):c.3798C>G (p.Ser1266Arg) 200648498 MedGen:C2676676,OMIM:604370 17 43091733 43091733 G C 97093 indel NM_007294.3(BRCA1):c.3839_3843delCTCAGins4 273900717 MedGen:C2676676,OMIM:604370 17 41243705 41243709 na na 97093 indel NM_007294.3(BRCA1):c.3839_3843delCTCAGins4 273900717 MedGen:C2676676,OMIM:604370 17 43091688 43091692 na na 97094 single nucleotide variant NM_007294.3(BRCA1):c.3868A>G (p.Lys1290Glu) 80357254 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41243680 41243680 T C 97094 single nucleotide variant NM_007294.3(BRCA1):c.3868A>G (p.Lys1290Glu) 80357254 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43091663 43091663 T C 97095 single nucleotide variant NM_007294.3(BRCA1):c.3897G>T (p.Gln1299His) 398122678 MedGen:C2676676,OMIM:604370 17 41243651 41243651 C A 97095 single nucleotide variant NM_007294.3(BRCA1):c.3897G>T (p.Gln1299His) 398122678 MedGen:C2676676,OMIM:604370 17 43091634 43091634 C A 97096 single nucleotide variant NM_007294.3(BRCA1):c.397C>A (p.Arg133Ser) 80357457 MedGen:C2676676,OMIM:604370 17 41256183 41256183 G T 97096 single nucleotide variant NM_007294.3(BRCA1):c.397C>A (p.Arg133Ser) 80357457 MedGen:C2676676,OMIM:604370 17 43104166 43104166 G T 97097 single nucleotide variant NM_007294.3(BRCA1):c.4054G>T (p.Glu1352Ter) 80357202 MedGen:C2676676,OMIM:604370 17 41243494 41243494 C A 97097 single nucleotide variant NM_007294.3(BRCA1):c.4054G>T (p.Glu1352Ter) 80357202 MedGen:C2676676,OMIM:604370 17 43091477 43091477 C A 97098 deletion NM_007294.3(BRCA1):c.4062_4065delTAAT (p.Asn1355Lysfs) 398122679 MedGen:C2676676,OMIM:604370 17 41243483 41243486 ATTA - 97098 deletion NM_007294.3(BRCA1):c.4062_4065delTAAT (p.Asn1355Lysfs) 398122679 MedGen:C2676676,OMIM:604370 17 43091466 43091469 ATTA - 97099 single nucleotide variant NM_007294.3(BRCA1):c.4088C>T (p.Ser1363Leu) 398122680 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41243460 41243460 G A 97099 single nucleotide variant NM_007294.3(BRCA1):c.4088C>T (p.Ser1363Leu) 398122680 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43091443 43091443 G A 97100 single nucleotide variant NM_007294.3(BRCA1):c.4094T>G (p.Leu1365Ter) 398122681 MedGen:C2676676,OMIM:604370 17 41243454 41243454 A C 97100 single nucleotide variant NM_007294.3(BRCA1):c.4094T>G (p.Leu1365Ter) 398122681 MedGen:C2676676,OMIM:604370 17 43091437 43091437 A C 97101 insertion NM_007294.3(BRCA1):c.4116_4117insTT (p.Glu1373Leufs) 398122682 MedGen:C2676676,OMIM:604370 17 41243029 41243030 - AA 97101 insertion NM_007294.3(BRCA1):c.4116_4117insTT (p.Glu1373Leufs) 398122682 MedGen:C2676676,OMIM:604370 17 43091012 43091013 - AA 97102 insertion NM_007294.3(BRCA1):c.4155_4156ins10 (p.?) 483353079 MedGen:C2676676,OMIM:604370 17 41242990 41242991 na na 97102 insertion NM_007294.3(BRCA1):c.4155_4156ins10 (p.?) 483353079 MedGen:C2676676,OMIM:604370 17 43090973 43090974 na na 97103 single nucleotide variant NM_007294.3(BRCA1):c.4186-3A>G 398122683 MedGen:C2676676,OMIM:604370 17 41234595 41234595 T C 97103 single nucleotide variant NM_007294.3(BRCA1):c.4186-3A>G 398122683 MedGen:C2676676,OMIM:604370 17 43082578 43082578 T C 97104 single nucleotide variant NM_007294.3(BRCA1):c.4272G>C (p.Gln1424His) 398122684 MedGen:C2676676,OMIM:604370 17 41234506 41234506 C G 97104 single nucleotide variant NM_007294.3(BRCA1):c.4272G>C (p.Gln1424His) 398122684 MedGen:C2676676,OMIM:604370 17 43082489 43082489 C G 97105 single nucleotide variant NM_007294.3(BRCA1):c.4354A>T (p.Lys1452Ter) 398122685 MedGen:C2676676,OMIM:604370;MedGen:CN221809 17 41234424 41234424 T A 97105 single nucleotide variant NM_007294.3(BRCA1):c.4354A>T (p.Lys1452Ter) 398122685 MedGen:C2676676,OMIM:604370;MedGen:CN221809 17 43082407 43082407 T A 97106 single nucleotide variant NM_007294.3(BRCA1):c.4357+2T>G 80358152 MedGen:C2676676,OMIM:604370 17 41234419 41234419 A C 97106 single nucleotide variant NM_007294.3(BRCA1):c.4357+2T>G 80358152 MedGen:C2676676,OMIM:604370 17 43082402 43082402 A C 97107 single nucleotide variant NM_007294.3(BRCA1):c.4417T>C (p.Ser1473Pro) 398122686 MedGen:C2676676,OMIM:604370 17 41228572 41228572 A G 97107 single nucleotide variant NM_007294.3(BRCA1):c.4417T>C (p.Ser1473Pro) 398122686 MedGen:C2676676,OMIM:604370 17 43076555 43076555 A G 97108 deletion NM_007294.3(BRCA1):c.4493delC (p.Pro1498Leufs) 398122687 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41226530 41226530 G - 97108 deletion NM_007294.3(BRCA1):c.4493delC (p.Pro1498Leufs) 398122687 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43074513 43074513 G - 97109 single nucleotide variant NM_007294.3(BRCA1):c.4544G>A (p.Gly1515Glu) 398122688 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41226479 41226479 C T 97109 single nucleotide variant NM_007294.3(BRCA1):c.4544G>A (p.Gly1515Glu) 398122688 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43074462 43074462 C T 97110 single nucleotide variant NM_007294.3(BRCA1):c.4589A>C (p.Lys1530Thr) 398122689 MedGen:C2676676,OMIM:604370 17 41226434 41226434 T G 97110 single nucleotide variant NM_007294.3(BRCA1):c.4589A>C (p.Lys1530Thr) 398122689 MedGen:C2676676,OMIM:604370 17 43074417 43074417 T G 97111 single nucleotide variant NM_007294.3(BRCA1):c.4676-16C>G 80358067 MedGen:C2676676,OMIM:604370 17 41223271 41223271 G C 97111 single nucleotide variant NM_007294.3(BRCA1):c.4676-16C>G 80358067 MedGen:C2676676,OMIM:604370 17 43071254 43071254 G C 97112 single nucleotide variant NM_007294.3(BRCA1):c.4987-20A>G 80358035 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 41219732 41219732 T C 97112 single nucleotide variant NM_007294.3(BRCA1):c.4987-20A>G 80358035 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 43067715 43067715 T C 97113 single nucleotide variant NM_007294.3(BRCA1):c.5074+6C>G 80358032 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41219619 41219619 G C 97113 single nucleotide variant NM_007294.3(BRCA1):c.5074+6C>G 80358032 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43067602 43067602 G C 97114 single nucleotide variant NM_007294.3(BRCA1):c.5075-3C>G 398122690 MedGen:C2676676,OMIM:604370 17 41215971 41215971 G C 97114 single nucleotide variant NM_007294.3(BRCA1):c.5075-3C>G 398122690 MedGen:C2676676,OMIM:604370 17 43063954 43063954 G C 97115 single nucleotide variant NM_007294.3(BRCA1):c.5129G>A (p.Gly1710Glu) 398122691 MedGen:C2676676,OMIM:604370 17 41215914 41215914 C T 97115 single nucleotide variant NM_007294.3(BRCA1):c.5129G>A (p.Gly1710Glu) 398122691 MedGen:C2676676,OMIM:604370 17 43063897 43063897 C T 97116 single nucleotide variant NM_007294.3(BRCA1):c.5153-3T>C 375639469 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41215393 41215393 A G 97116 single nucleotide variant NM_007294.3(BRCA1):c.5153-3T>C 375639469 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43063376 43063376 A G 97117 deletion NM_007294.3(BRCA1):c.5186delT (p.Leu1729Argfs) 398122692 MedGen:C2676676,OMIM:604370 17 41215357 41215357 A - 97117 deletion NM_007294.3(BRCA1):c.5186delT (p.Leu1729Argfs) 398122692 MedGen:C2676676,OMIM:604370 17 43063340 43063340 A - 97118 single nucleotide variant NM_007294.3(BRCA1):c.5191G>A (p.Glu1731Lys) 397507244 MedGen:C2676676,OMIM:604370 17 41215352 41215352 C T 97118 single nucleotide variant NM_007294.3(BRCA1):c.5191G>A (p.Glu1731Lys) 397507244 MedGen:C2676676,OMIM:604370 17 43063335 43063335 C T 97119 single nucleotide variant NM_007294.3(BRCA1):c.5193+1G>T 80358004 MedGen:C2676676,OMIM:604370;MedGen:CN221809 17 41215349 41215349 C A 97119 single nucleotide variant NM_007294.3(BRCA1):c.5193+1G>T 80358004 MedGen:C2676676,OMIM:604370;MedGen:CN221809 17 43063332 43063332 C A 97120 single nucleotide variant NM_007294.3(BRCA1):c.5197G>A (p.Asp1733Asn) 398122693 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41209149 41209149 C T 97120 single nucleotide variant NM_007294.3(BRCA1):c.5197G>A (p.Asp1733Asn) 398122693 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43057132 43057132 C T 97121 deletion NM_007294.3(BRCA1):c.5277+1delG 273901754 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41209068 41209068 C - 97121 deletion NM_007294.3(BRCA1):c.5277+1delG 273901754 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43057051 43057051 C - 97122 single nucleotide variant NM_007294.3(BRCA1):c.5278-14C>G 80358105 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41203148 41203148 G C 97122 single nucleotide variant NM_007294.3(BRCA1):c.5278-14C>G 80358105 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43051131 43051131 G C 97123 single nucleotide variant NM_007294.3(BRCA1):c.5285G>T (p.Arg1762Met) 398122694 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41203127 41203127 C A 97123 single nucleotide variant NM_007294.3(BRCA1):c.5285G>T (p.Arg1762Met) 398122694 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43051110 43051110 C A 97124 single nucleotide variant NM_007294.3(BRCA1):c.5327C>T (p.Pro1776Leu) 398122695 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41203085 41203085 G A 97124 single nucleotide variant NM_007294.3(BRCA1):c.5327C>T (p.Pro1776Leu) 398122695 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43051068 43051068 G A 97125 single nucleotide variant NM_007294.3(BRCA1):c.5330C>T (p.Thr1777Ile) 398122696 MedGen:C2676676,OMIM:604370 17 41203082 41203082 G A 97125 single nucleotide variant NM_007294.3(BRCA1):c.5330C>T (p.Thr1777Ile) 398122696 MedGen:C2676676,OMIM:604370 17 43051065 43051065 G A 97126 single nucleotide variant NM_007294.3(BRCA1):c.5357T>C (p.Leu1786Pro) 398122697 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 41201187 41201187 A G 97126 single nucleotide variant NM_007294.3(BRCA1):c.5357T>C (p.Leu1786Pro) 398122697 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 43049170 43049170 A G 97127 single nucleotide variant NM_007294.3(BRCA1):c.5458G>A (p.Gly1820Ser) 398122698 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41199669 41199669 C T 97127 single nucleotide variant NM_007294.3(BRCA1):c.5458G>A (p.Gly1820Ser) 398122698 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43047652 43047652 C T 97128 single nucleotide variant NM_007294.3(BRCA1):c.5467+8G>A 80358062 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 41199652 41199652 C T 97128 single nucleotide variant NM_007294.3(BRCA1):c.5467+8G>A 80358062 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 43047635 43047635 C T 97129 deletion NM_007294.3(BRCA1):c.5468-10_5468-9delCT 273902770 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41197828 41197829 AG - 97129 deletion NM_007294.3(BRCA1):c.5468-10_5468-9delCT 273902770 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43045811 43045812 AG - 97130 single nucleotide variant NM_007294.3(BRCA1):c.5468-2A>G 398122699 MedGen:C2676676,OMIM:604370 17 41197821 41197821 T C 97130 single nucleotide variant NM_007294.3(BRCA1):c.5468-2A>G 398122699 MedGen:C2676676,OMIM:604370 17 43045804 43045804 T C 97131 single nucleotide variant NM_007294.3(BRCA1):c.5473G>A (p.Gly1825Arg) 398122700 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41197814 41197814 C T 97131 single nucleotide variant NM_007294.3(BRCA1):c.5473G>A (p.Gly1825Arg) 398122700 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43045797 43045797 C T 97132 deletion NM_007294.3(BRCA1):c.548-18delT 398122701 MedGen:C2676676,OMIM:604370 17 41249324 41249324 A - 97132 deletion NM_007294.3(BRCA1):c.548-18delT 398122701 MedGen:C2676676,OMIM:604370 17 43097307 43097307 A - 97133 single nucleotide variant NM_007294.3(BRCA1):c.5516T>C (p.Leu1839Ser) 398122702 MedGen:C2676676,OMIM:604370 17 41197771 41197771 A G 97133 single nucleotide variant NM_007294.3(BRCA1):c.5516T>C (p.Leu1839Ser) 398122702 MedGen:C2676676,OMIM:604370 17 43045754 43045754 A G 97134 single nucleotide variant NM_007294.3(BRCA1):c.593+3G>A 80358013 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41249258 41249258 C T 97134 single nucleotide variant NM_007294.3(BRCA1):c.593+3G>A 80358013 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43097241 43097241 C T 97135 single nucleotide variant NM_007294.3(BRCA1):c.607G>A (p.Glu203Lys) 398122703 MedGen:C2676676,OMIM:604370 17 41247926 41247926 C T 97135 single nucleotide variant NM_007294.3(BRCA1):c.607G>A (p.Glu203Lys) 398122703 MedGen:C2676676,OMIM:604370 17 43095909 43095909 C T 97136 single nucleotide variant NM_007294.3(BRCA1):c.646A>G (p.Ile216Val) 398122704 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41247887 41247887 T C 97136 single nucleotide variant NM_007294.3(BRCA1):c.646A>G (p.Ile216Val) 398122704 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43095870 43095870 T C 97137 single nucleotide variant NM_007294.3(BRCA1):c.665A>G (p.Lys222Arg) 398122705 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41247868 41247868 T C 97137 single nucleotide variant NM_007294.3(BRCA1):c.665A>G (p.Lys222Arg) 398122705 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43095851 43095851 T C 97138 single nucleotide variant NM_007294.3(BRCA1):c.670+1G>T 398122706 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41247862 41247862 C A 97138 single nucleotide variant NM_007294.3(BRCA1):c.670+1G>T 398122706 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43095845 43095845 C A 97139 single nucleotide variant NM_007294.3(BRCA1):c.671-10A>G 398122707 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41246887 41246887 T C 97139 single nucleotide variant NM_007294.3(BRCA1):c.671-10A>G 398122707 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43094870 43094870 T C 97140 single nucleotide variant NM_007294.3(BRCA1):c.671-1G>C 80358020 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 41246878 41246878 C G 97140 single nucleotide variant NM_007294.3(BRCA1):c.671-1G>C 80358020 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 43094861 43094861 C G 97141 single nucleotide variant NM_007294.3(BRCA1):c.695A>T (p.Asp232Val) 398122708 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41246853 41246853 T A 97141 single nucleotide variant NM_007294.3(BRCA1):c.695A>T (p.Asp232Val) 398122708 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43094836 43094836 T A 97142 single nucleotide variant NM_007294.3(BRCA1):c.80+7C>A 80358098 MedGen:C2676676,OMIM:604370 17 41276027 41276027 G T 97142 single nucleotide variant NM_007294.3(BRCA1):c.80+7C>A 80358098 MedGen:C2676676,OMIM:604370 17 43124010 43124010 G T 97143 single nucleotide variant NM_007294.3(BRCA1):c.81-12C>G 80358055 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 41267808 41267808 G C 97143 single nucleotide variant NM_007294.3(BRCA1):c.81-12C>G 80358055 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 43115791 43115791 G C 97144 deletion NM_007294.3(BRCA1):c.81-12delC 273902790 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41267808 41267808 G - 97144 deletion NM_007294.3(BRCA1):c.81-12delC 273902790 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43115791 43115791 G - 97145 single nucleotide variant NM_007294.3(BRCA1):c.81-1G>A 80358018 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41267797 41267797 C T 97145 single nucleotide variant NM_007294.3(BRCA1):c.81-1G>A 80358018 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43115780 43115780 C T 97146 deletion NM_007294.3(BRCA1):c.936delC (p.Leu313Terfs) 398122709 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41246612 41246612 G - 97146 deletion NM_007294.3(BRCA1):c.936delC (p.Leu313Terfs) 398122709 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43094595 43094595 G - 97183 protein only NP_009225.1(BRCA1):p.Ala521Ter -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 97184 protein only NP_009225.1(BRCA1):p.Arg1645Ser -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 97185 protein only NP_009225.1(BRCA1):p.Cys39Ser -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 97186 protein only NP_009225.1(BRCA1):p.Glu1219Asp -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 97187 protein only NP_009225.1(BRCA1):p.Gly1738Arg -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 97188 protein only NP_009225.1(BRCA1):p.Leu1230Ter -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 97189 protein only NP_009225.1(BRCA1):p.Leu204Phe -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 97190 protein only NP_009225.1(BRCA1):p.Leu598Ter -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 97191 protein only NP_009225.1(BRCA1):p.Lys970Asn -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 97192 protein only NP_009225.1(BRCA1):p.Phe486Leu -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 97193 protein only NP_009225.1(BRCA1):p.Ser1383Ter -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 97194 protein only NP_009225.1(BRCA1):p.Ser316Arg -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 97195 protein only NP_009225.1(BRCA1):p.Ser378Arg -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 97196 protein only NP_009225.1(BRCA1):p.Ser868Ter -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 97197 protein only NP_009225.1(BRCA1):p.Trp1508Ter -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 97198 protein only NP_009225.1(BRCA1):p.Trp1718Cys -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 97199 protein only NP_009225.1(BRCA1):p.Trp1782Ter -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 97200 protein only NP_009225.1(BRCA1):p.Trp1815Ter -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 97201 protein only NP_009225.1(BRCA1):p.Trp1837Arg -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 97202 protein only NP_009225.1(BRCA1):p.Trp321Ter -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 97203 protein only NP_009225.1(BRCA1):p.Tyr1563Ter -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 97204 protein only NP_009225.1(BRCA1):p.Tyr1703Ter -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 97205 protein only NP_009225.1(BRCA1):p.Tyr261Ter -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 102803 deletion NM_007294.3(BRCA1):c.1434delT (p.Glu479Lysfs) 431825386 MedGen:C2676676,OMIM:604370 17 43094097 43094097 A - 102805 deletion NM_007294.3(BRCA1):c.1579_1580delAA (p.Lys527Aspfs) 431825387 MedGen:C2676676,OMIM:604370 17 41245968 41245969 TT - 102805 deletion NM_007294.3(BRCA1):c.1579_1580delAA (p.Lys527Aspfs) 431825387 MedGen:C2676676,OMIM:604370 17 43093951 43093952 TT - 102823 single nucleotide variant NM_007294.3(BRCA1):c.3914A>T (p.Asp1305Val) 431825402 MedGen:C2676676,OMIM:604370 17 41243634 41243634 T A 102794 deletion NM_007294.3(BRCA1):c.*102_*105delCTGT 431825382 MedGen:C2676676,OMIM:604370 17 41197590 41197593 ACAG - 102794 deletion NM_007294.3(BRCA1):c.*102_*105delCTGT 431825382 MedGen:C2676676,OMIM:604370 17 43045573 43045576 ACAG - 102795 single nucleotide variant NM_007294.3(BRCA1):c.-13G>A 431825383 MedGen:C2676676,OMIM:604370 17 41276126 41276126 C T 102795 single nucleotide variant NM_007294.3(BRCA1):c.-13G>A 431825383 MedGen:C2676676,OMIM:604370 17 43124109 43124109 C T 102796 single nucleotide variant NM_007294.3(BRCA1):c.1001C>A (p.Pro334His) 41286290 MedGen:C2676676,OMIM:604370 17 41246547 41246547 G T 102796 single nucleotide variant NM_007294.3(BRCA1):c.1001C>A (p.Pro334His) 41286290 MedGen:C2676676,OMIM:604370 17 43094530 43094530 G T 102797 single nucleotide variant NM_007294.3(BRCA1):c.1015A>G (p.Lys339Glu) 55842957 MedGen:C2676676,OMIM:604370 17 41246533 41246533 T C 102797 single nucleotide variant NM_007294.3(BRCA1):c.1015A>G (p.Lys339Glu) 55842957 MedGen:C2676676,OMIM:604370 17 43094516 43094516 T C 102798 deletion NM_007294.3(BRCA1):c.1148_1149delAT (p.Asn383Argfs) 431825384 MedGen:C2676676,OMIM:604370 17 41246399 41246400 AT - 102798 deletion NM_007294.3(BRCA1):c.1148_1149delAT (p.Asn383Argfs) 431825384 MedGen:C2676676,OMIM:604370 17 43094382 43094383 AT - 102799 single nucleotide variant NM_007294.3(BRCA1):c.1214C>G (p.Ser405Ter) 80357481 MedGen:C2676676,OMIM:604370 17 41246334 41246334 G C 102799 single nucleotide variant NM_007294.3(BRCA1):c.1214C>G (p.Ser405Ter) 80357481 MedGen:C2676676,OMIM:604370 17 43094317 43094317 G C 102800 insertion NM_007294.3(BRCA1):c.1298_1299ins4 483353083 MedGen:C2676676,OMIM:604370 17 41246249 41246250 na na 102800 insertion NM_007294.3(BRCA1):c.1298_1299ins4 483353083 MedGen:C2676676,OMIM:604370 17 43094232 43094233 na na 102801 duplication NM_007294.3(BRCA1):c.130dupT (p.Cys44Leufs) 431825385 MedGen:C2676676,OMIM:604370 17 41267747 41267747 A AA 102801 duplication NM_007294.3(BRCA1):c.130dupT (p.Cys44Leufs) 431825385 MedGen:C2676676,OMIM:604370 17 43115730 43115730 A AA 102802 single nucleotide variant NM_007294.3(BRCA1):c.134+5G>T 80358038 MedGen:C2676676,OMIM:604370 17 41267738 41267738 C A 102802 single nucleotide variant NM_007294.3(BRCA1):c.134+5G>T 80358038 MedGen:C2676676,OMIM:604370 17 43115721 43115721 C A 102803 deletion NM_007294.3(BRCA1):c.1434delT (p.Glu479Lysfs) 431825386 MedGen:C2676676,OMIM:604370 17 41246114 41246114 A - 102806 duplication NM_007294.3(BRCA1):c.2001dupA (p.Leu668Thrfs) 80357521 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41245547 41245547 T TT 102806 duplication NM_007294.3(BRCA1):c.2001dupA (p.Leu668Thrfs) 80357521 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43093530 43093530 T TT 102807 single nucleotide variant NM_007294.3(BRCA1):c.2081G>A (p.Ser694Asn) 431825388 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41245467 41245467 C T 102807 single nucleotide variant NM_007294.3(BRCA1):c.2081G>A (p.Ser694Asn) 431825388 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43093450 43093450 C T 102808 deletion NM_007294.3(BRCA1):c.2101_2102delAA (p.Lys701Valfs) 431825389 MedGen:C2676676,OMIM:604370 17 41245446 41245447 TT - 102808 deletion NM_007294.3(BRCA1):c.2101_2102delAA (p.Lys701Valfs) 431825389 MedGen:C2676676,OMIM:604370 17 43093429 43093430 TT - 102810 single nucleotide variant NM_007294.3(BRCA1):c.2648C>T (p.Ala883Val) 431825391 MedGen:C2676676,OMIM:604370 17 41244900 41244900 G A 102810 single nucleotide variant NM_007294.3(BRCA1):c.2648C>T (p.Ala883Val) 431825391 MedGen:C2676676,OMIM:604370 17 43092883 43092883 G A 102811 single nucleotide variant NM_007294.3(BRCA1):c.2732G>A (p.Gly911Glu) 431825392 MedGen:C2676676,OMIM:604370 17 41244816 41244816 C T 102811 single nucleotide variant NM_007294.3(BRCA1):c.2732G>A (p.Gly911Glu) 431825392 MedGen:C2676676,OMIM:604370 17 43092799 43092799 C T 102812 single nucleotide variant NM_007294.3(BRCA1):c.290C>G (p.Thr97Arg) 431825393 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41256896 41256896 G C 102812 single nucleotide variant NM_007294.3(BRCA1):c.290C>G (p.Thr97Arg) 431825393 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43104879 43104879 G C 102813 single nucleotide variant NM_007294.3(BRCA1):c.2910A>C (p.Lys970Asn) 431825394 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244638 41244638 T G 102813 single nucleotide variant NM_007294.3(BRCA1):c.2910A>C (p.Lys970Asn) 431825394 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092621 43092621 T G 102814 single nucleotide variant NM_007294.3(BRCA1):c.3406C>A (p.Pro1136Thr) 431825395 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41244142 41244142 G T 102814 single nucleotide variant NM_007294.3(BRCA1):c.3406C>A (p.Pro1136Thr) 431825395 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43092125 43092125 G T 102815 single nucleotide variant NM_007294.3(BRCA1):c.3433G>T (p.Val1145Phe) 431825396 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41244115 41244115 C A 102815 single nucleotide variant NM_007294.3(BRCA1):c.3433G>T (p.Val1145Phe) 431825396 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43092098 43092098 C A 102816 single nucleotide variant NM_007294.3(BRCA1):c.3437G>A (p.Cys1146Tyr) 80357247 MedGen:C2676676,OMIM:604370 17 41244111 41244111 C T 102816 single nucleotide variant NM_007294.3(BRCA1):c.3437G>A (p.Cys1146Tyr) 80357247 MedGen:C2676676,OMIM:604370 17 43092094 43092094 C T 102817 deletion NM_007294.3(BRCA1):c.368delC (p.Ser123Leufs) 431825397 MedGen:C2676676,OMIM:604370 17 41256212 41256212 G - 102817 deletion NM_007294.3(BRCA1):c.368delC (p.Ser123Leufs) 431825397 MedGen:C2676676,OMIM:604370 17 43104195 43104195 G - 102818 deletion NM_007294.3(BRCA1):c.3759delT (p.Lys1254Argfs) 431825398 MedGen:C2676676,OMIM:604370 17 41243789 41243789 A - 102818 deletion NM_007294.3(BRCA1):c.3759delT (p.Lys1254Argfs) 431825398 MedGen:C2676676,OMIM:604370 17 43091772 43091772 A - 102819 single nucleotide variant NM_007294.3(BRCA1):c.3774G>T (p.Glu1258Asp) 431825399 MedGen:C2676676,OMIM:604370 17 41243774 41243774 C A 102819 single nucleotide variant NM_007294.3(BRCA1):c.3774G>T (p.Glu1258Asp) 431825399 MedGen:C2676676,OMIM:604370 17 43091757 43091757 C A 102820 single nucleotide variant NM_007294.3(BRCA1):c.3818A>G (p.Gln1273Arg) 431825400 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41243730 41243730 T C 102820 single nucleotide variant NM_007294.3(BRCA1):c.3818A>G (p.Gln1273Arg) 431825400 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43091713 43091713 T C 102821 single nucleotide variant NM_007294.3(BRCA1):c.3869A>C (p.Lys1290Thr) 431825401 MedGen:C2676676,OMIM:604370 17 41243679 41243679 T G 102821 single nucleotide variant NM_007294.3(BRCA1):c.3869A>C (p.Lys1290Thr) 431825401 MedGen:C2676676,OMIM:604370 17 43091662 43091662 T G 102822 single nucleotide variant NM_007294.3(BRCA1):c.389A>G (p.Tyr130Cys) 56055578 MedGen:C2676676,OMIM:604370 17 41256191 41256191 T C 102822 single nucleotide variant NM_007294.3(BRCA1):c.389A>G (p.Tyr130Cys) 56055578 MedGen:C2676676,OMIM:604370 17 43104174 43104174 T C 102823 single nucleotide variant NM_007294.3(BRCA1):c.3914A>T (p.Asp1305Val) 431825402 MedGen:C2676676,OMIM:604370 17 43091617 43091617 T A 102824 single nucleotide variant NM_007294.3(BRCA1):c.3944C>G (p.Pro1315Arg) 80357500 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41243604 41243604 G C 102824 single nucleotide variant NM_007294.3(BRCA1):c.3944C>G (p.Pro1315Arg) 80357500 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43091587 43091587 G C 102825 single nucleotide variant NM_007294.3(BRCA1):c.3955G>A (p.Gly1319Ser) 431825403 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41243593 41243593 C T 102825 single nucleotide variant NM_007294.3(BRCA1):c.3955G>A (p.Gly1319Ser) 431825403 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43091576 43091576 C T 102826 deletion NM_007294.3(BRCA1):c.4038_4041delAAGA (p.Arg1347Glufs) 431825404 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41243507 41243510 TCTT - 102826 deletion NM_007294.3(BRCA1):c.4038_4041delAAGA (p.Arg1347Glufs) 431825404 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43091490 43091493 TCTT - 102827 single nucleotide variant NM_007294.3(BRCA1):c.4072G>T (p.Glu1358Ter) 397509136 MedGen:C2676676,OMIM:604370 17 41243476 41243476 C A 102827 single nucleotide variant NM_007294.3(BRCA1):c.4072G>T (p.Glu1358Ter) 397509136 MedGen:C2676676,OMIM:604370 17 43091459 43091459 C A 102828 single nucleotide variant NM_007294.3(BRCA1):c.4096G>A (p.Gly1366Ser) 431825405 MedGen:C2676676,OMIM:604370 17 41243452 41243452 C T 102828 single nucleotide variant NM_007294.3(BRCA1):c.4096G>A (p.Gly1366Ser) 431825405 MedGen:C2676676,OMIM:604370 17 43091435 43091435 C T 102830 single nucleotide variant NM_007294.3(BRCA1):c.4185+10G>A 80358104 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41242951 41242951 C T 102830 single nucleotide variant NM_007294.3(BRCA1):c.4185+10G>A 80358104 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43090934 43090934 C T 102831 single nucleotide variant NM_007294.3(BRCA1):c.4185+2T>A 431825406 MedGen:C2676676,OMIM:604370 17 41242959 41242959 A T 102831 single nucleotide variant NM_007294.3(BRCA1):c.4185+2T>A 431825406 MedGen:C2676676,OMIM:604370 17 43090942 43090942 A T 102832 single nucleotide variant NM_007294.3(BRCA1):c.4185+9C>T 80358034 MedGen:C2676676,OMIM:604370 17 41242952 41242952 G A 102832 single nucleotide variant NM_007294.3(BRCA1):c.4185+9C>T 80358034 MedGen:C2676676,OMIM:604370 17 43090935 43090935 G A 102833 duplication NM_007294.3(BRCA1):c.4348dupT (p.Ser1450Phefs) 80357548 MedGen:C2676676,OMIM:604370 17 41234430 41234430 A AA 102833 duplication NM_007294.3(BRCA1):c.4348dupT (p.Ser1450Phefs) 80357548 MedGen:C2676676,OMIM:604370 17 43082413 43082413 A AA 102834 single nucleotide variant NM_007294.3(BRCA1):c.4357+7A>G 431825407 MedGen:C2676676,OMIM:604370 17 41234414 41234414 T C 102834 single nucleotide variant NM_007294.3(BRCA1):c.4357+7A>G 431825407 MedGen:C2676676,OMIM:604370 17 43082397 43082397 T C 102835 single nucleotide variant NM_007294.3(BRCA1):c.4383T>A (p.Ser1461Arg) 431825408 MedGen:C2676676,OMIM:604370 17 41228606 41228606 A T 102835 single nucleotide variant NM_007294.3(BRCA1):c.4383T>A (p.Ser1461Arg) 431825408 MedGen:C2676676,OMIM:604370 17 43076589 43076589 A T 102836 insertion NM_007294.3(BRCA1):c.4450_4451ins4 483353084 MedGen:C2676676,OMIM:604370 17 41228538 41228539 na na 102836 insertion NM_007294.3(BRCA1):c.4450_4451ins4 483353084 MedGen:C2676676,OMIM:604370 17 43076521 43076522 na na 102837 single nucleotide variant NM_007294.3(BRCA1):c.457A>G (p.Ser153Gly) 28897674 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41251882 41251882 T C 102837 single nucleotide variant NM_007294.3(BRCA1):c.457A>G (p.Ser153Gly) 28897674 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43099865 43099865 T C 102838 deletion NM_007294.3(BRCA1):c.4587_4590delTAAG (p.Ile1529Metfs) 431825409 MedGen:C2676676,OMIM:604370 17 41226433 41226436 CTTA - 102838 deletion NM_007294.3(BRCA1):c.4587_4590delTAAG (p.Ile1529Metfs) 431825409 MedGen:C2676676,OMIM:604370 17 43074416 43074419 CTTA - 102839 single nucleotide variant NM_007294.3(BRCA1):c.4986+5G>A 397509211 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41222940 41222940 C T 102839 single nucleotide variant NM_007294.3(BRCA1):c.4986+5G>A 397509211 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43070923 43070923 C T 102841 single nucleotide variant NM_007294.3(BRCA1):c.5074+5A>T 431825411 MedGen:C2676676,OMIM:604370 17 41219620 41219620 T A 102841 single nucleotide variant NM_007294.3(BRCA1):c.5074+5A>T 431825411 MedGen:C2676676,OMIM:604370 17 43067603 43067603 T A 102843 single nucleotide variant NM_007294.3(BRCA1):c.5152+7A>G 80358046 MedGen:C2676676,OMIM:604370 17 41215884 41215884 T C 102843 single nucleotide variant NM_007294.3(BRCA1):c.5152+7A>G 80358046 MedGen:C2676676,OMIM:604370 17 43063867 43063867 T C 102844 single nucleotide variant NM_007294.3(BRCA1):c.5153-6C>A 80358129 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 41215396 41215396 G T 102844 single nucleotide variant NM_007294.3(BRCA1):c.5153-6C>A 80358129 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 43063379 43063379 G T 102845 single nucleotide variant NM_007294.3(BRCA1):c.5193+1G>A 80358004 MedGen:C2676676,OMIM:604370 17 41215349 41215349 C T 102845 single nucleotide variant NM_007294.3(BRCA1):c.5193+1G>A 80358004 MedGen:C2676676,OMIM:604370 17 43063332 43063332 C T 102846 single nucleotide variant NM_007294.3(BRCA1):c.5205A>T (p.Glu1735Asp) 431825412 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41209141 41209141 T A 102846 single nucleotide variant NM_007294.3(BRCA1):c.5205A>T (p.Glu1735Asp) 431825412 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43057124 43057124 T A 102847 single nucleotide variant NM_007294.3(BRCA1):c.5254G>A (p.Ala1752Thr) 80357074 MedGen:C2676676,OMIM:604370 17 41209092 41209092 C T 102847 single nucleotide variant NM_007294.3(BRCA1):c.5254G>A (p.Ala1752Thr) 80357074 MedGen:C2676676,OMIM:604370 17 43057075 43057075 C T 102849 insertion NM_007294.3(BRCA1):c.5268_5269insC (p.Asp1757Argfs) 431825414 MedGen:C2676676,OMIM:604370 17 41209077 41209078 - G 102849 insertion NM_007294.3(BRCA1):c.5268_5269insC (p.Asp1757Argfs) 431825414 MedGen:C2676676,OMIM:604370 17 43057060 43057061 - G 102850 single nucleotide variant NM_007294.3(BRCA1):c.5276A>G (p.Lys1759Arg) 431825415 MedGen:C2676676,OMIM:604370 17 41209070 41209070 T C 102850 single nucleotide variant NM_007294.3(BRCA1):c.5276A>G (p.Lys1759Arg) 431825415 MedGen:C2676676,OMIM:604370 17 43057053 43057053 T C 102851 single nucleotide variant NM_007294.3(BRCA1):c.5302T>G (p.Cys1768Gly) 431825416 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41203110 41203110 A C 102851 single nucleotide variant NM_007294.3(BRCA1):c.5302T>G (p.Cys1768Gly) 431825416 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43051093 43051093 A C 102852 single nucleotide variant NM_007294.3(BRCA1):c.5339T>G (p.Leu1780Arg) 80357474 MedGen:C2676676,OMIM:604370 17 41201205 41201205 A C 102852 single nucleotide variant NM_007294.3(BRCA1):c.5339T>G (p.Leu1780Arg) 80357474 MedGen:C2676676,OMIM:604370 17 43049188 43049188 A C 102853 single nucleotide variant NM_007294.3(BRCA1):c.5407-10G>A 273901767 MedGen:C2676676,OMIM:604370 17 41199730 41199730 C T 102853 single nucleotide variant NM_007294.3(BRCA1):c.5407-10G>A 273901767 MedGen:C2676676,OMIM:604370 17 43047713 43047713 C T 102854 single nucleotide variant NM_007294.3(BRCA1):c.5467+3A>C 431825417 MedGen:C2676676,OMIM:604370 17 41199657 41199657 T G 102854 single nucleotide variant NM_007294.3(BRCA1):c.5467+3A>C 431825417 MedGen:C2676676,OMIM:604370 17 43047640 43047640 T G 102855 duplication NM_007294.3(BRCA1):c.5479_5480insGA (p.Met1827Argfs) 80357757 MedGen:C2676676,OMIM:604370 17 41197808 41197809 TC TCTC 102855 duplication NM_007294.3(BRCA1):c.5479_5480insGA (p.Met1827Argfs) 80357757 MedGen:C2676676,OMIM:604370 17 43045791 43045792 TC TCTC 102856 single nucleotide variant NM_007294.3(BRCA1):c.659C>G (p.Ser220Cys) 431825418 MedGen:C2676676,OMIM:604370 17 41247874 41247874 G C 102856 single nucleotide variant NM_007294.3(BRCA1):c.659C>G (p.Ser220Cys) 431825418 MedGen:C2676676,OMIM:604370 17 43095857 43095857 G C 102857 single nucleotide variant NM_007294.3(BRCA1):c.670G>A (p.Ala224Thr) 431825419 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41247863 41247863 C T 102857 single nucleotide variant NM_007294.3(BRCA1):c.670G>A (p.Ala224Thr) 431825419 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43095846 43095846 C T 102858 deletion NM_007294.3(BRCA1):c.671-12delG 273902781 MedGen:C2676676,OMIM:604370 17 41246889 41246889 C - 102858 deletion NM_007294.3(BRCA1):c.671-12delG 273902781 MedGen:C2676676,OMIM:604370 17 43094872 43094872 C - 102860 single nucleotide variant NM_007294.3(BRCA1):c.998C>T (p.Thr333Ile) 431825420 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41246550 41246550 G A 102860 single nucleotide variant NM_007294.3(BRCA1):c.998C>T (p.Thr333Ile) 431825420 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43094533 43094533 G A 102871 protein only NP_009225.1(BRCA1):p.Leu1086Ter -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 102872 protein only NP_009225.1(BRCA1):p.Leu63Ter -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 102873 protein only NP_009225.1(BRCA1):p.Met1008Ile -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 102874 protein only NP_009225.1:p.Ser1007Ter -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 102875 protein only NP_009225.1(BRCA1):p.Ser713Ter -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 102876 protein only NP_009225.1(BRCA1):p.Trp1712Ter -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 130989 undetermined variant -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 130990 undetermined variant -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 130991 undetermined variant -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 130992 undetermined variant -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 130993 undetermined variant -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 130994 undetermined variant -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 130995 undetermined variant -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 130996 undetermined variant -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 130997 undetermined variant -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 130998 undetermined variant -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 130999 undetermined variant -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131000 undetermined variant -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131001 undetermined variant -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131002 single nucleotide variant NM_007294.3(BRCA1):c.-20+11C>T 273898672 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 43125260 43125260 G A 131002 single nucleotide variant NM_007294.3(BRCA1):c.-20+11C>T 273898672 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 41277277 41277277 G A 131003 deletion NM_007294.3(BRCA1):c.882delA (p.Asp295Thrfs) 80357587 MedGen:C2676676,OMIM:604370 17 43094649 43094649 T - 131003 deletion NM_007294.3(BRCA1):c.882delA (p.Asp295Thrfs) 80357587 MedGen:C2676676,OMIM:604370 17 41246666 41246666 T - 131004 undetermined variant -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131005 single nucleotide variant NM_007294.3(BRCA1):c.-19-10T>C 201866997 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145 17 41276142 41276142 A G 131005 single nucleotide variant NM_007294.3(BRCA1):c.-19-10T>C 201866997 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145 17 43124125 43124125 A G 131006 single nucleotide variant NM_007294.3(BRCA1):c.-19-115T>C 3765640 MedGen:C2676676,OMIM:604370 17 43124230 43124230 A G 131006 single nucleotide variant NM_007294.3(BRCA1):c.-19-115T>C 3765640 MedGen:C2676676,OMIM:604370 17 41276247 41276247 A G 131008 insertion NM_007294.3(BRCA1):c.-19-2_-19-1insAT 273898666 MedGen:C2676676,OMIM:604370 17 43124116 43124117 - AT 131008 insertion NM_007294.3(BRCA1):c.-19-2_-19-1insAT 273898666 MedGen:C2676676,OMIM:604370 17 41276133 41276134 - AT 131009 single nucleotide variant NM_007294.3(BRCA1):c.-19-3A>G 273898669 MedGen:C2676676,OMIM:604370 17 43124118 43124118 T C 131009 single nucleotide variant NM_007294.3(BRCA1):c.-19-3A>G 273898669 MedGen:C2676676,OMIM:604370 17 41276135 41276135 T C 131010 duplication NM_007294.3(BRCA1):c.-19-2_-19-1dupAG 273898668 MedGen:C2676676,OMIM:604370 17 41276133 41276134 CT CTCT 131010 duplication NM_007294.3(BRCA1):c.-19-2_-19-1dupAG 273898668 MedGen:C2676676,OMIM:604370 17 43124116 43124117 CT CTCT 131011 insertion NM_007294.3(BRCA1):c.-19-55_-19-54insT 273898670 MedGen:C2676676,OMIM:604370 17 43124169 43124170 - A 131011 insertion NM_007294.3(BRCA1):c.-19-55_-19-54insT 273898670 MedGen:C2676676,OMIM:604370 17 41276186 41276187 - A 131012 single nucleotide variant NM_007294.3(BRCA1):c.-19-5T>C 273898671 MedGen:C2676676,OMIM:604370 17 41276137 41276137 A G 131012 single nucleotide variant NM_007294.3(BRCA1):c.-19-5T>C 273898671 MedGen:C2676676,OMIM:604370 17 43124120 43124120 A G 131015 insertion NM_007294.3(BRCA1):c.902_903insT (p.Lys301Asnfs) 80357726 MedGen:C2676676,OMIM:604370 17 43094628 43094629 - A 131015 insertion NM_007294.3(BRCA1):c.902_903insT (p.Lys301Asnfs) 80357726 MedGen:C2676676,OMIM:604370 17 41246645 41246646 - A 131016 single nucleotide variant NM_007294.3(BRCA1):c.-14T>C 273897661 MedGen:C2676676,OMIM:604370 17 43124110 43124110 A G 131016 single nucleotide variant NM_007294.3(BRCA1):c.-14T>C 273897661 MedGen:C2676676,OMIM:604370 17 41276127 41276127 A G 131018 single nucleotide variant NM_007294.3(BRCA1):c.-11A>C 273897654 MedGen:C2676676,OMIM:604370 17 43124107 43124107 T G 131018 single nucleotide variant NM_007294.3(BRCA1):c.-11A>C 273897654 MedGen:C2676676,OMIM:604370 17 41276124 41276124 T G 131019 insertion NM_007294.3(BRCA1):c.984_985insC (p.Asn329Glnfs) 80357775 MedGen:C2676676,OMIM:604370 17 41246563 41246564 - G 131019 insertion NM_007294.3(BRCA1):c.984_985insC (p.Asn329Glnfs) 80357775 MedGen:C2676676,OMIM:604370 17 43094546 43094547 - G 131022 single nucleotide variant NM_007294.3(BRCA1):c.-3G>C 273900720 MedGen:C2676676,OMIM:604370 17 43124099 43124099 C G 131022 single nucleotide variant NM_007294.3(BRCA1):c.-3G>C 273900720 MedGen:C2676676,OMIM:604370 17 41276116 41276116 C G 131023 single nucleotide variant NM_007294.3(BRCA1):c.-2A>T 273899693 MedGen:C2676676,OMIM:604370 17 43124098 43124098 T A 131023 single nucleotide variant NM_007294.3(BRCA1):c.-2A>T 273899693 MedGen:C2676676,OMIM:604370 17 41276115 41276115 T A 131024 insertion NM_007294.3(BRCA1):c.1101_1102insC (p.Glu368Argfs) 80357665 MedGen:C2676676,OMIM:604370 17 41246446 41246447 - G 131024 insertion NM_007294.3(BRCA1):c.1101_1102insC (p.Glu368Argfs) 80357665 MedGen:C2676676,OMIM:604370 17 43094429 43094430 - G 131026 duplication NM_007294.3(BRCA1):c.1129dupA (p.Ser377Lysfs) 80357776 MedGen:C2676676,OMIM:604370 17 41246419 41246419 T TT 131026 duplication NM_007294.3(BRCA1):c.1129dupA (p.Ser377Lysfs) 80357776 MedGen:C2676676,OMIM:604370 17 43094402 43094402 T TT 131029 deletion NM_007294.3(BRCA1):c.19_47del29 (p.Arg7Cysfs) 80359871 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41276067 41276095 na na 131029 deletion NM_007294.3(BRCA1):c.19_47del29 (p.Arg7Cysfs) 80359871 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43124050 43124078 na na 131030 deletion NM_007294.3(BRCA1):c.20_28delGCGTTGAAG (p.Arg7_Glu10delinsGln) 80359887 MedGen:C2676676,OMIM:604370 17 43124069 43124077 CTTCAACGC - 131030 deletion NM_007294.3(BRCA1):c.20_28delGCGTTGAAG (p.Arg7_Glu10delinsGln) 80359887 MedGen:C2676676,OMIM:604370 17 41276086 41276094 CTTCAACGC - 131033 deletion NM_007294.3(BRCA1):c.1356delA (p.Glu453Argfs) 80357939 MedGen:C2676676,OMIM:604370 17 41246192 41246192 T - 131033 deletion NM_007294.3(BRCA1):c.1356delA (p.Glu453Argfs) 80357939 MedGen:C2676676,OMIM:604370 17 43094175 43094175 T - 131035 insertion U14680.1:n.1506AtoGinsG -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131037 duplication NM_007294.3(BRCA1):c.1392dupC (p.Tyr465Leufs) 80357592 MedGen:C2676676,OMIM:604370 17 43094139 43094139 G GG 131037 duplication NM_007294.3(BRCA1):c.1392dupC (p.Tyr465Leufs) 80357592 MedGen:C2676676,OMIM:604370 17 41246156 41246156 G GG 131038 insertion NM_007294.3(BRCA1):c.1440_1441insA (p.Leu481Thrfs) 80357778 MedGen:C2676676,OMIM:604370 17 41246107 41246108 - T 131038 insertion NM_007294.3(BRCA1):c.1440_1441insA (p.Leu481Thrfs) 80357778 MedGen:C2676676,OMIM:604370 17 43094090 43094091 - T 131039 duplication NM_007294.3(BRCA1):c.1462dupA (p.Thr488Asnfs) 80357599 MedGen:C2676676,OMIM:604370 17 43094069 43094069 T TT 131039 duplication NM_007294.3(BRCA1):c.1462dupA (p.Thr488Asnfs) 80357599 MedGen:C2676676,OMIM:604370 17 41246086 41246086 T TT 131041 deletion NM_007294.3(BRCA1):c.1518delG (p.Arg507Aspfs) 80357947 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43094013 43094013 C - 131041 deletion NM_007294.3(BRCA1):c.1518delG (p.Arg507Aspfs) 80357947 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41246030 41246030 C - 131042 indel NM_007294.3(BRCA1):c.1561_1562delGCinsTA (p.Ala521Ter) 273897663 MedGen:C2676676,OMIM:604370 17 43093969 43093970 GC TA 131042 indel NM_007294.3(BRCA1):c.1561_1562delGCinsTA (p.Ala521Ter) 273897663 MedGen:C2676676,OMIM:604370 17 41245986 41245987 GC TA 131044 indel NM_007294.3(BRCA1):c.1637_1685del49ins5 483353085 MedGen:C2676676,OMIM:604370 17 41245863 41245911 na na 131044 indel NM_007294.3(BRCA1):c.1637_1685del49ins5 483353085 MedGen:C2676676,OMIM:604370 17 43093846 43093894 na na 131045 duplication NM_007294.3(BRCA1):c.1695dupG (p.Lys566Glufs) 273897664 MedGen:C2676676,OMIM:604370 17 41245853 41245853 C CC 131045 duplication NM_007294.3(BRCA1):c.1695dupG (p.Lys566Glufs) 273897664 MedGen:C2676676,OMIM:604370 17 43093836 43093836 C CC 131046 duplication NM_007294.3(BRCA1):c.1700dupA (p.Asn567Lysfs) 80357784 MedGen:C2676676,OMIM:604370 17 43093831 43093831 T TT 131046 duplication NM_007294.3(BRCA1):c.1700dupA (p.Asn567Lysfs) 80357784 MedGen:C2676676,OMIM:604370 17 41245848 41245848 T TT 131049 insertion NM_007294.3(BRCA1):c.70_71insA (p.Cys24Terfs) 80357536 MedGen:C2676676,OMIM:604370 17 43124026 43124027 - T 131049 insertion NM_007294.3(BRCA1):c.70_71insA (p.Cys24Terfs) 80357536 MedGen:C2676676,OMIM:604370 17 41276043 41276044 - T 131050 insertion NM_007294.3(BRCA1):c.70_71insTGTC (p.Cys24Leufs) 80357536 MedGen:C2676676,OMIM:604370 17 41276043 41276044 - GACA 131050 insertion NM_007294.3(BRCA1):c.70_71insTGTC (p.Cys24Leufs) 80357536 MedGen:C2676676,OMIM:604370 17 43124026 43124027 - GACA 131051 deletion NM_007294.3(BRCA1):c.1812delA (p.Ala605Hisfs) 80357927 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43093719 43093719 T - 131051 deletion NM_007294.3(BRCA1):c.1812delA (p.Ala605Hisfs) 80357927 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41245736 41245736 T - 131053 insertion NM_007294.3(BRCA1):c.78_79insCATCTG (p.Ile26_Cys27insHisLeu) 273902787 MedGen:C2676676,OMIM:604370 17 43124018 43124019 - CAGATG 131053 insertion NM_007294.3(BRCA1):c.78_79insCATCTG (p.Ile26_Cys27insHisLeu) 273902787 MedGen:C2676676,OMIM:604370 17 41276035 41276036 - CAGATG 131054 single nucleotide variant NM_007294.3(BRCA1):c.80+1G>C 80358010 MedGen:C2676676,OMIM:604370 17 43124016 43124016 C G 131054 single nucleotide variant NM_007294.3(BRCA1):c.80+1G>C 80358010 MedGen:C2676676,OMIM:604370 17 41276033 41276033 C G 131055 single nucleotide variant NM_007294.3(BRCA1):c.80+1G>T 80358010 MedGen:C2676676,OMIM:604370 17 41276033 41276033 C A 131055 single nucleotide variant NM_007294.3(BRCA1):c.80+1G>T 80358010 MedGen:C2676676,OMIM:604370 17 43124016 43124016 C A 131056 single nucleotide variant NM_007294.3(BRCA1):c.80+2T>G 80358128 MedGen:C2676676,OMIM:604370 17 43124015 43124015 A C 131056 single nucleotide variant NM_007294.3(BRCA1):c.80+2T>G 80358128 MedGen:C2676676,OMIM:604370 17 41276032 41276032 A C 131057 single nucleotide variant NM_007294.3(BRCA1):c.80+4A>T 80358003 MedGen:C2676676,OMIM:604370 17 41276030 41276030 T A 131057 single nucleotide variant NM_007294.3(BRCA1):c.80+4A>T 80358003 MedGen:C2676676,OMIM:604370 17 43124013 43124013 T A 131058 single nucleotide variant NM_007294.3(BRCA1):c.80+5G>A 80358045 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43124012 43124012 C T 131058 single nucleotide variant NM_007294.3(BRCA1):c.80+5G>A 80358045 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41276029 41276029 C T 131059 single nucleotide variant NM_007294.3(BRCA1):c.80+7C>T 80358098 MedGen:C2676676,OMIM:604370 17 43124010 43124010 G A 131059 single nucleotide variant NM_007294.3(BRCA1):c.80+7C>T 80358098 MedGen:C2676676,OMIM:604370 17 41276027 41276027 G A 131061 insertion NM_007294.3(BRCA1):c.81-12_81-11insC 273902789 MedGen:C2676676,OMIM:604370 17 43115790 43115791 - G 131061 insertion NM_007294.3(BRCA1):c.81-12_81-11insC 273902789 MedGen:C2676676,OMIM:604370 17 41267807 41267808 - G 131062 single nucleotide variant NM_007294.3(BRCA1):c.81-150G>A 193214469 MedGen:C2676676,OMIM:604370 17 41267946 41267946 C T 131062 single nucleotide variant NM_007294.3(BRCA1):c.81-150G>A 193214469 MedGen:C2676676,OMIM:604370 17 43115929 43115929 C T 131063 single nucleotide variant NM_007294.3(BRCA1):c.81-20C>T 80358039 MedGen:C2676676,OMIM:604370 17 43115799 43115799 G A 131063 single nucleotide variant NM_007294.3(BRCA1):c.81-20C>T 80358039 MedGen:C2676676,OMIM:604370 17 41267816 41267816 G A 131064 single nucleotide variant NM_007294.3(BRCA1):c.81-65G>C 80358117 MedGen:C2676676,OMIM:604370 17 41267861 41267861 C G 131064 single nucleotide variant NM_007294.3(BRCA1):c.81-65G>C 80358117 MedGen:C2676676,OMIM:604370 17 43115844 43115844 C G 131066 insertion NM_007294.3(BRCA1):c.1893_1894insT (p.Ser632Terfs) 80357768 MedGen:C2676676,OMIM:604370 17 43093637 43093638 - A 131066 insertion NM_007294.3(BRCA1):c.1893_1894insT (p.Ser632Terfs) 80357768 MedGen:C2676676,OMIM:604370 17 41245654 41245655 - A 131070 insertion NM_007294.3(BRCA1):c.2038_2039insCC (p.Lys680Thrfs) 80357940 MedGen:C2676676,OMIM:604370 17 43093492 43093493 - GG 131070 insertion NM_007294.3(BRCA1):c.2038_2039insCC (p.Lys680Thrfs) 80357940 MedGen:C2676676,OMIM:604370 17 41245509 41245510 - GG 131072 single nucleotide variant NM_007294.3(BRCA1):c.2077G>T (p.Asp693Tyr) 4986850 MedGen:C2676676,OMIM:604370 17 43093454 43093454 C A 131072 single nucleotide variant NM_007294.3(BRCA1):c.2077G>T (p.Asp693Tyr) 4986850 MedGen:C2676676,OMIM:604370 17 41245471 41245471 C A 131073 insertion NM_007294.3(BRCA1):c.2077_2078insTA (p.Asp693Valfs) 80357595 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43093453 43093454 - TA 131073 insertion NM_007294.3(BRCA1):c.2077_2078insTA (p.Asp693Valfs) 80357595 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41245470 41245471 - TA 131074 single nucleotide variant NM_007294.3(BRCA1):c.2082C>T (p.Ser694=) 1799949 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245466 41245466 G A 131074 single nucleotide variant NM_007294.3(BRCA1):c.2082C>T (p.Ser694=) 1799949 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093449 43093449 G A 131075 single nucleotide variant U14680.1:n.2201T>C -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131076 single nucleotide variant S694S -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131077 insertion NM_007294.3(BRCA1):c.2098_2099insA (p.Leu700Hisfs) 483353086 MedGen:C2676676,OMIM:604370 17 43093432 43093433 - T 131432 deletion U14680.1:n.668-58delT -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131077 insertion NM_007294.3(BRCA1):c.2098_2099insA (p.Leu700Hisfs) 483353086 MedGen:C2676676,OMIM:604370 17 41245449 41245450 - T 131079 deletion U14680.1:n.2294delG -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131080 duplication NM_007294.3(BRCA1):c.2188dupG (p.Glu730Glyfs) 80357566 MedGen:C2676676,OMIM:604370 17 43093343 43093343 C CC 131080 duplication NM_007294.3(BRCA1):c.2188dupG (p.Glu730Glyfs) 80357566 MedGen:C2676676,OMIM:604370 17 41245360 41245360 C CC 131084 deletion NM_007294.3(BRCA1):c.2214delT (p.Val740Cysfs) 80357574 MedGen:C2676676,OMIM:604370 17 43093317 43093317 A - 131084 deletion NM_007294.3(BRCA1):c.2214delT (p.Val740Cysfs) 80357574 MedGen:C2676676,OMIM:604370 17 41245334 41245334 A - 131085 insertion NM_007294.3(BRCA1):c.2215_2216insCT (p.Lys739Thrfs) 80357930 MedGen:C2676676,OMIM:604370 17 43093315 43093316 - AG 131085 insertion NM_007294.3(BRCA1):c.2215_2216insCT (p.Lys739Thrfs) 80357930 MedGen:C2676676,OMIM:604370 17 41245332 41245333 - AG 131086 duplication NM_007294.3(BRCA1):c.2217dupA (p.Val740Serfs) 80357802 MedGen:C2676676,OMIM:604370 17 43093314 43093314 T TT 131086 duplication NM_007294.3(BRCA1):c.2217dupA (p.Val740Serfs) 80357802 MedGen:C2676676,OMIM:604370 17 41245331 41245331 T TT 131088 single nucleotide variant NM_007294.3(BRCA1):c.2245G>C (p.Asp749His) 80357114 MedGen:C2676676,OMIM:604370 17 41245303 41245303 C G 131088 single nucleotide variant NM_007294.3(BRCA1):c.2245G>C (p.Asp749His) 80357114 MedGen:C2676676,OMIM:604370 17 43093286 43093286 C G 131090 duplication NM_007294.3(BRCA1):c.2273dupT (p.Leu758Phefs) 80357681 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41245275 41245275 A AA 131090 duplication NM_007294.3(BRCA1):c.2273dupT (p.Leu758Phefs) 80357681 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43093258 43093258 A AA 131091 single nucleotide variant NM_007294.3(BRCA1):c.2309C>T (p.Ser770Leu) 80357063 MedGen:C2676676,OMIM:604370 17 43093222 43093222 G A 131091 single nucleotide variant NM_007294.3(BRCA1):c.2309C>T (p.Ser770Leu) 80357063 MedGen:C2676676,OMIM:604370 17 41245239 41245239 G A 131092 single nucleotide variant NM_007294.3(BRCA1):c.2311T>C (p.Leu771=) 16940 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093220 43093220 A G 131092 single nucleotide variant NM_007294.3(BRCA1):c.2311T>C (p.Leu771=) 16940 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245237 41245237 A G 131093 deletion NM_007294.3(BRCA1):c.2337_2338delTC (p.Gln780Glyfs) 80357515 MedGen:C2676676,OMIM:604370 17 41245210 41245211 GA - 131093 deletion NM_007294.3(BRCA1):c.2337_2338delTC (p.Gln780Glyfs) 80357515 MedGen:C2676676,OMIM:604370 17 43093193 43093194 GA - 131094 duplication NM_007294.3(BRCA1):c.2355dupA (p.Leu786Thrfs) 80357990 MedGen:C2676676,OMIM:604370 17 43093176 43093176 T TT 131094 duplication NM_007294.3(BRCA1):c.2355dupA (p.Leu786Thrfs) 80357990 MedGen:C2676676,OMIM:604370 17 41245193 41245193 T TT 131095 single nucleotide variant NM_007294.3(BRCA1):c.2356C>T (p.Leu786=) 483353087 MedGen:C2676676,OMIM:604370 17 41245192 41245192 G A 131095 single nucleotide variant NM_007294.3(BRCA1):c.2356C>T (p.Leu786=) 483353087 MedGen:C2676676,OMIM:604370 17 43093175 43093175 G A 131097 deletion U14680.1:n.2494delC -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131098 deletion NM_007294.3(BRCA1):c.2376delG (p.Lys793Argfs) 80357913 MedGen:C2676676,OMIM:604370 17 43093155 43093155 C - 131098 deletion NM_007294.3(BRCA1):c.2376delG (p.Lys793Argfs) 80357913 MedGen:C2676676,OMIM:604370 17 41245172 41245172 C - 131100 insertion U14680.1:n.252_256del5insT -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131101 single nucleotide variant NM_007294.3(BRCA1):c.134+1G>C 80358043 MedGen:C2676676,OMIM:604370 17 43115725 43115725 C G 131101 single nucleotide variant NM_007294.3(BRCA1):c.134+1G>C 80358043 MedGen:C2676676,OMIM:604370 17 41267742 41267742 C G 131103 single nucleotide variant NM_007294.3(BRCA1):c.135-19C>A 80358123 MedGen:C2676676,OMIM:604370 17 43106552 43106552 G T 131103 single nucleotide variant NM_007294.3(BRCA1):c.135-19C>A 80358123 MedGen:C2676676,OMIM:604370 17 41258569 41258569 G T 131104 single nucleotide variant NM_007294.3(BRCA1):c.135-20T>G 80358025 MedGen:C2676676,OMIM:604370 17 43106553 43106553 A C 131104 single nucleotide variant NM_007294.3(BRCA1):c.135-20T>G 80358025 MedGen:C2676676,OMIM:604370 17 41258570 41258570 A C 131105 single nucleotide variant NM_007294.3(BRCA1):c.135-2A>G 80358065 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 43106535 43106535 T C 131105 single nucleotide variant NM_007294.3(BRCA1):c.135-2A>G 80358065 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 41258552 41258552 T C 131106 duplication NM_007294.3(BRCA1):c.2438dupG (p.Leu814Thrfs) 80357503 MedGen:C2676676,OMIM:604370 17 43093093 43093093 C CC 131106 duplication NM_007294.3(BRCA1):c.2438dupG (p.Leu814Thrfs) 80357503 MedGen:C2676676,OMIM:604370 17 41245110 41245110 C CC 131107 single nucleotide variant K820E -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131108 duplication NM_007294.3(BRCA1):c.139dupT (p.Cys47Leufs) 80357734 MedGen:C2676676,OMIM:604370 17 43106529 43106529 A AA 131108 duplication NM_007294.3(BRCA1):c.139dupT (p.Cys47Leufs) 80357734 MedGen:C2676676,OMIM:604370 17 41258546 41258546 A AA 131109 duplication NM_007294.3(BRCA1):c.2474dupA (p.Asp825Glufs) 80357830 MedGen:C2676676,OMIM:604370 17 41245074 41245074 T TT 131109 duplication NM_007294.3(BRCA1):c.2474dupA (p.Asp825Glufs) 80357830 MedGen:C2676676,OMIM:604370 17 43093057 43093057 T TT 131110 duplication U14680.1:n.2607dupAAGTATCCAT -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131113 deletion NM_007294.3(BRCA1):c.2586_2593delGGTTTCAA (p.Val863Alafs) 80357675 MedGen:C2676676,OMIM:604370 17 43092938 43092945 TTGAAACC - 131113 deletion NM_007294.3(BRCA1):c.2586_2593delGGTTTCAA (p.Val863Alafs) 80357675 MedGen:C2676676,OMIM:604370 17 41244955 41244962 TTGAAACC - 131117 insertion NM_007294.3(BRCA1):c.2658_2659insA (p.Ala887Serfs) 80357541 MedGen:C2676676,OMIM:604370 17 43092872 43092873 - T 131117 insertion NM_007294.3(BRCA1):c.2658_2659insA (p.Ala887Serfs) 80357541 MedGen:C2676676,OMIM:604370 17 41244889 41244890 - T 131119 deletion NM_007294.3(BRCA1):c.2686delA (p.Ser896Valfs) 273899687 MedGen:C2676676,OMIM:604370 17 41244862 41244862 T - 131119 deletion NM_007294.3(BRCA1):c.2686delA (p.Ser896Valfs) 273899687 MedGen:C2676676,OMIM:604370 17 43092845 43092845 T - 131127 deletion NM_007294.3(BRCA1):c.171delG (p.Pro58Leufs) 80357660 MedGen:C2676676,OMIM:604370 17 43106497 43106497 C - 131127 deletion NM_007294.3(BRCA1):c.171delG (p.Pro58Leufs) 80357660 MedGen:C2676676,OMIM:604370 17 41258514 41258514 C - 131128 deletion NM_007294.3(BRCA1):c.2799delT (p.Gln934Argfs) 80357998 MedGen:C2676676,OMIM:604370 17 41244749 41244749 A - 131128 deletion NM_007294.3(BRCA1):c.2799delT (p.Gln934Argfs) 80357998 MedGen:C2676676,OMIM:604370 17 43092732 43092732 A - 131131 deletion NM_007294.3(BRCA1):c.2868delT (p.Gln957Serfs) 80357929 MedGen:C2676676,OMIM:604370 17 41244680 41244680 A - 131131 deletion NM_007294.3(BRCA1):c.2868delT (p.Gln957Serfs) 80357929 MedGen:C2676676,OMIM:604370 17 43092663 43092663 A - 131132 insertion NM_007294.3(BRCA1):c.2871_2872insA (p.Phe958Ilefs) 80357693 MedGen:C2676676,OMIM:604370 17 43092659 43092660 - T 131132 insertion NM_007294.3(BRCA1):c.2871_2872insA (p.Phe958Ilefs) 80357693 MedGen:C2676676,OMIM:604370 17 41244676 41244677 - T 131133 deletion NM_007294.3(BRCA1):c.2889_2890delTG (p.Gly964Thrfs) 80357890 MedGen:C2676676,OMIM:604370 17 41244658 41244659 CA - 131133 deletion NM_007294.3(BRCA1):c.2889_2890delTG (p.Gly964Thrfs) 80357890 MedGen:C2676676,OMIM:604370 17 43092641 43092642 CA - 131135 indel NM_007294.3(BRCA1):c.2995_2996delCTinsTA (p.Leu999Ter) 273899692 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43092535 43092536 AG TA 131135 indel NM_007294.3(BRCA1):c.2995_2996delCTinsTA (p.Leu999Ter) 273899692 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41244552 41244553 AG TA 131139 duplication NM_007294.3(BRCA1):c.3044dupG (p.Asn1016Lysfs) 80357746 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43092487 43092487 C CC 131139 duplication NM_007294.3(BRCA1):c.3044dupG (p.Asn1016Lysfs) 80357746 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41244504 41244504 C CC 131141 insertion NM_007294.3(BRCA1):c.3053_3054insTGAGA (p.Ile1019Glufs) 80357547 MedGen:C2676676,OMIM:604370 17 43092477 43092478 - TCTCA 131141 insertion NM_007294.3(BRCA1):c.3053_3054insTGAGA (p.Ile1019Glufs) 80357547 MedGen:C2676676,OMIM:604370 17 41244494 41244495 - TCTCA 131144 duplication NM_007294.3(BRCA1):c.204dupA (p.Thr69Asnfs) 273898673 MedGen:C2676676,OMIM:604370 17 43106464 43106464 T TT 131144 duplication NM_007294.3(BRCA1):c.204dupA (p.Thr69Asnfs) 273898673 MedGen:C2676676,OMIM:604370 17 41258481 41258481 T TT 131145 indel NM_007294.3(BRCA1):c.3114_3117delAGCCinsGA (p.Ala1039Lysfs) 273899700 MedGen:C2676676,OMIM:604370 17 41244431 41244434 GGCT TC 131145 indel NM_007294.3(BRCA1):c.3114_3117delAGCCinsGA (p.Ala1039Lysfs) 273899700 MedGen:C2676676,OMIM:604370 17 43092414 43092417 GGCT TC 131146 deletion U14680.1:n.3235_3238delCAGC -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131147 insertion NM_007294.3(BRCA1):c.3158_3159insG (p.Val1054Serfs) 80357769 MedGen:C2676676,OMIM:604370 17 41244389 41244390 - C 131147 insertion NM_007294.3(BRCA1):c.3158_3159insG (p.Val1054Serfs) 80357769 MedGen:C2676676,OMIM:604370 17 43092372 43092373 - C 131148 single nucleotide variant NM_007294.3(BRCA1):c.212+10T>G 80358174 MedGen:C2676676,OMIM:604370 17 43106446 43106446 A C 131148 single nucleotide variant NM_007294.3(BRCA1):c.212+10T>G 80358174 MedGen:C2676676,OMIM:604370 17 41258463 41258463 A C 131150 single nucleotide variant NM_007294.3(BRCA1):c.212+21G>A 80358147 MedGen:C2676676,OMIM:604370 17 41258452 41258452 C T 131150 single nucleotide variant NM_007294.3(BRCA1):c.212+21G>A 80358147 MedGen:C2676676,OMIM:604370 17 43106435 43106435 C T 131151 insertion NM_007294.3(BRCA1):c.3194_3195insG (p.Asp1065Glufs) 80357883 MedGen:C2676676,OMIM:604370 17 43092336 43092337 - C 131151 insertion NM_007294.3(BRCA1):c.3194_3195insG (p.Asp1065Glufs) 80357883 MedGen:C2676676,OMIM:604370 17 41244353 41244354 - C 131152 single nucleotide variant NM_007294.3(BRCA1):c.213-161A>G 799912 MedGen:C2676676,OMIM:604370 17 41257134 41257134 T C 131152 single nucleotide variant NM_007294.3(BRCA1):c.213-161A>G 799912 MedGen:C2676676,OMIM:604370 17 43105117 43105117 T C 131153 single nucleotide variant NM_007294.3(BRCA1):c.213-16A>G 80358037 MedGen:C2676676,OMIM:604370 17 43104972 43104972 T C 131153 single nucleotide variant NM_007294.3(BRCA1):c.213-16A>G 80358037 MedGen:C2676676,OMIM:604370 17 41256989 41256989 T C 131154 single nucleotide variant NM_007294.3(BRCA1):c.213-3C>G 80358119 MedGen:C2676676,OMIM:604370 17 43104959 43104959 G C 131154 single nucleotide variant NM_007294.3(BRCA1):c.213-3C>G 80358119 MedGen:C2676676,OMIM:604370 17 41256976 41256976 G C 131155 single nucleotide variant NM_007294.3(BRCA1):c.213-77T>A 80358100 MedGen:C2676676,OMIM:604370 17 43105033 43105033 A T 131155 single nucleotide variant NM_007294.3(BRCA1):c.213-77T>A 80358100 MedGen:C2676676,OMIM:604370 17 41257050 41257050 A T 131156 single nucleotide variant NM_007294.3(BRCA1):c.213-8A>C 80358159 MedGen:C2676676,OMIM:604370 17 43104964 43104964 T G 131156 single nucleotide variant NM_007294.3(BRCA1):c.213-8A>C 80358159 MedGen:C2676676,OMIM:604370 17 41256981 41256981 T G 131158 insertion NM_007294.3(BRCA1):c.3256_3257insGA (p.Leu1086Terfs) 80357764 MedGen:C2676676,OMIM:604370 17 43092274 43092275 - TC 131158 insertion NM_007294.3(BRCA1):c.3256_3257insGA (p.Leu1086Terfs) 80357764 MedGen:C2676676,OMIM:604370 17 41244291 41244292 - TC 131160 insertion NM_007294.3(BRCA1):c.3288_3289ins46 (p.?) 483353088 MedGen:C2676676,OMIM:604370 17 43092242 43092243 na na 131160 insertion NM_007294.3(BRCA1):c.3288_3289ins46 (p.?) 483353088 MedGen:C2676676,OMIM:604370 17 41244259 41244260 na na 131162 single nucleotide variant NM_007294.3(BRCA1):c.3327A>G (p.Lys1109=) 41293449 MedGen:C2676676,OMIM:604370 17 43092204 43092204 T C 131162 single nucleotide variant NM_007294.3(BRCA1):c.3327A>G (p.Lys1109=) 41293449 MedGen:C2676676,OMIM:604370 17 41244221 41244221 T C 131163 deletion NM_007294.3(BRCA1):c.3327_3329delAAA (p.Lys1110del) 80358334 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43092202 43092204 TTT - 131163 deletion NM_007294.3(BRCA1):c.3327_3329delAAA (p.Lys1110del) 80358334 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41244219 41244221 TTT - 131167 insertion NM_007294.3(BRCA1):c.3330_3331insA (p.Gln1111Thrfs) 80357996 MedGen:C2676676,OMIM:604370 17 43092200 43092201 - T 131167 insertion NM_007294.3(BRCA1):c.3330_3331insA (p.Gln1111Thrfs) 80357996 MedGen:C2676676,OMIM:604370 17 41244217 41244218 - T 131168 duplication NM_007294.3(BRCA1):c.3351dupT (p.Gln1118Serfs) 80357785 MedGen:C2676676,OMIM:604370 17 43092180 43092180 A AA 131168 duplication NM_007294.3(BRCA1):c.3351dupT (p.Gln1118Serfs) 80357785 MedGen:C2676676,OMIM:604370 17 41244197 41244197 A AA 131169 deletion NM_007294.3(BRCA1):c.3357delT (p.Val1120Leufs) 80357827 MedGen:C2676676,OMIM:604370 17 41244191 41244191 A - 131169 deletion NM_007294.3(BRCA1):c.3357delT (p.Val1120Leufs) 80357827 MedGen:C2676676,OMIM:604370 17 43092174 43092174 A - 131170 duplication NM_007294.3(BRCA1):c.3462dupA (p.Asp1155Argfs) 80357857 MedGen:C2676676,OMIM:604370 17 43092069 43092069 T TT 131170 duplication NM_007294.3(BRCA1):c.3462dupA (p.Asp1155Argfs) 80357857 MedGen:C2676676,OMIM:604370 17 41244086 41244086 T TT 131172 deletion NM_007294.3(BRCA1):c.243delA (p.Gln81Hisfs) 273899684 MedGen:C2676676,OMIM:604370 17 43104926 43104926 T - 131172 deletion NM_007294.3(BRCA1):c.243delA (p.Gln81Hisfs) 273899684 MedGen:C2676676,OMIM:604370 17 41256943 41256943 T - 131173 insertion NM_007294.3(BRCA1):c.3516_3517ins100 (p.?) -1 MedGen:C2676676,OMIM:604370 17 43092014 43092015 na na 131173 insertion NM_007294.3(BRCA1):c.3516_3517ins100 (p.?) -1 MedGen:C2676676,OMIM:604370 17 41244031 41244032 na na 131174 deletion NM_007294.3(BRCA1):c.3548_3549delAA (p.Lys1183Argfs) 80357956 MedGen:C2676676,OMIM:604370 17 43091982 43091983 TT - 131174 deletion NM_007294.3(BRCA1):c.3548_3549delAA (p.Lys1183Argfs) 80357956 MedGen:C2676676,OMIM:604370 17 41243999 41244000 TT - 131175 insertion NM_007294.3(BRCA1):c.3571_3572ins4 483353089 MedGen:C2676676,OMIM:604370 17 43091959 43091960 na na 131175 insertion NM_007294.3(BRCA1):c.3571_3572ins4 483353089 MedGen:C2676676,OMIM:604370 17 41243976 41243977 na na 131177 deletion U14680.1:n.3702delA -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131180 duplication NM_007294.3(BRCA1):c.3620dupA (p.Lys1208Glufs) 80357926 MedGen:C2676676,OMIM:604370 17 43091911 43091911 T TT 131180 duplication NM_007294.3(BRCA1):c.3620dupA (p.Lys1208Glufs) 80357926 MedGen:C2676676,OMIM:604370 17 41243928 41243928 T TT 131182 insertion NM_007294.3(BRCA1):c.3649_3650insA (p.Ser1217Tyrfs) 80357831 MedGen:C2676676,OMIM:604370 17 43091881 43091882 - T 131182 insertion NM_007294.3(BRCA1):c.3649_3650insA (p.Ser1217Tyrfs) 80357831 MedGen:C2676676,OMIM:604370 17 41243898 41243899 - T 131184 indel U14680.1:n.3829_3830insTdel35 -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131187 duplication NM_007294.3(BRCA1):c.3766dupA (p.Thr1256Asnfs) 80357704 MedGen:C2676676,OMIM:604370 17 43091765 43091765 T TT 131187 duplication NM_007294.3(BRCA1):c.3766dupA (p.Thr1256Asnfs) 80357704 MedGen:C2676676,OMIM:604370 17 41243782 41243782 T TT 131188 deletion NM_007294.3(BRCA1):c.3771_3772delGG (p.Asn1259Phefs) 80357810 MedGen:C2676676,OMIM:604370 17 41243776 41243777 CC - 131188 deletion NM_007294.3(BRCA1):c.3771_3772delGG (p.Asn1259Phefs) 80357810 MedGen:C2676676,OMIM:604370 17 43091759 43091760 CC - 131189 single nucleotide variant NM_007294.3(BRCA1):c.3776A>C (p.Asn1259Thr) 483353090 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 43091755 43091755 T G 131189 single nucleotide variant NM_007294.3(BRCA1):c.3776A>C (p.Asn1259Thr) 483353090 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 41243772 41243772 T G 131191 insertion NM_007294.3(BRCA1):c.3778_3779insA (p.Leu1260Tyrfs) 80357849 MedGen:C2676676,OMIM:604370 17 43091752 43091753 - T 131191 insertion NM_007294.3(BRCA1):c.3778_3779insA (p.Leu1260Tyrfs) 80357849 MedGen:C2676676,OMIM:604370 17 41243769 41243770 - T 131193 duplication NM_007294.3(BRCA1):c.3830dupC (p.Ala1279Glyfs) 80357878 MedGen:C2676676,OMIM:604370 17 43091701 43091701 G GG 131193 duplication NM_007294.3(BRCA1):c.3830dupC (p.Ala1279Glyfs) 80357878 MedGen:C2676676,OMIM:604370 17 41243718 41243718 G GG 131195 deletion NM_007294.3(BRCA1):c.3867_3871delAAAAT (p.Lys1290Phefs) 80357560 MedGen:C2676676,OMIM:604370 17 41243677 41243681 ATTTT - 131195 deletion NM_007294.3(BRCA1):c.3867_3871delAAAAT (p.Lys1290Phefs) 80357560 MedGen:C2676676,OMIM:604370 17 43091660 43091664 ATTTT - 131196 duplication NM_007294.3(BRCA1):c.3908dupT (p.Leu1303Phefs) 80357634 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43091623 43091623 A AA 131196 duplication NM_007294.3(BRCA1):c.3908dupT (p.Leu1303Phefs) 80357634 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41243640 41243640 A AA 131197 single nucleotide variant NM_007294.3(BRCA1):c.3958T>C (p.Ser1320Pro) 80356855 MedGen:C2676676,OMIM:604370 17 41243590 41243590 A G 131197 single nucleotide variant NM_007294.3(BRCA1):c.3958T>C (p.Ser1320Pro) 80356855 MedGen:C2676676,OMIM:604370 17 43091573 43091573 A G 131198 indel NM_007294.3(BRCA1):c.288_292delCACAGins7 483353091 MedGen:C2676676,OMIM:604370 17 41256894 41256898 na na 131198 indel NM_007294.3(BRCA1):c.288_292delCACAGins7 483353091 MedGen:C2676676,OMIM:604370 17 43104877 43104881 na na 131199 insertion NM_007294.3(BRCA1):c.4050_4051insG (p.Leu1351Valfs) 483353092 MedGen:C2676676,OMIM:604370 17 43091480 43091481 - C 131199 insertion NM_007294.3(BRCA1):c.4050_4051insG (p.Leu1351Valfs) 483353092 MedGen:C2676676,OMIM:604370 17 41243497 41243498 - C 131201 single nucleotide variant NM_007294.3(BRCA1):c.301+10G>A 80358001 MedGen:C2676676,OMIM:604370 17 43104858 43104858 C T 131201 single nucleotide variant NM_007294.3(BRCA1):c.301+10G>A 80358001 MedGen:C2676676,OMIM:604370 17 41256875 41256875 C T 131202 insertion NM_007294.3(BRCA1):c.301+2_301+3insT 273899694 MedGen:C2676676,OMIM:604370 17 41256882 41256883 - A 131202 insertion NM_007294.3(BRCA1):c.301+2_301+3insT 273899694 MedGen:C2676676,OMIM:604370 17 43104865 43104866 - A 131203 single nucleotide variant NM_007294.3(BRCA1):c.301+5G>A 80358149 MedGen:C2676676,OMIM:604370 17 43104863 43104863 C T 131203 single nucleotide variant NM_007294.3(BRCA1):c.301+5G>A 80358149 MedGen:C2676676,OMIM:604370 17 41256880 41256880 C T 131204 single nucleotide variant NM_007294.3(BRCA1):c.301+8T>C 80358101 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 41256877 41256877 A G 131204 single nucleotide variant NM_007294.3(BRCA1):c.301+8T>C 80358101 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 43104860 43104860 A G 131205 single nucleotide variant NM_007294.3(BRCA1):c.302-1G>T 80358116 MedGen:C2676676,OMIM:604370 17 43104262 43104262 C A 131205 single nucleotide variant NM_007294.3(BRCA1):c.302-1G>T 80358116 MedGen:C2676676,OMIM:604370 17 41256279 41256279 C A 131206 single nucleotide variant NM_007294.3(BRCA1):c.302-2A>T 80358011 MedGen:C2676676,OMIM:604370 17 43104263 43104263 T A 131206 single nucleotide variant NM_007294.3(BRCA1):c.302-2A>T 80358011 MedGen:C2676676,OMIM:604370 17 41256280 41256280 T A 131207 deletion NM_007294.3(BRCA1):c.302-2_302-1del 483353093 MedGen:C2676676,OMIM:604370 17 41256279 41256280 CT - 131207 deletion NM_007294.3(BRCA1):c.302-2_302-1del 483353093 MedGen:C2676676,OMIM:604370 17 43104262 43104263 CT - 131208 single nucleotide variant NM_007294.3(BRCA1):c.302-34C>G 80358071 MedGen:C2676676,OMIM:604370 17 43104295 43104295 G C 131208 single nucleotide variant NM_007294.3(BRCA1):c.302-34C>G 80358071 MedGen:C2676676,OMIM:604370 17 41256312 41256312 G C 131209 single nucleotide variant NM_007294.3(BRCA1):c.302-87T>C 273899697 MedGen:C2676676,OMIM:604370 17 41256365 41256365 A G 131209 single nucleotide variant NM_007294.3(BRCA1):c.302-87T>C 273899697 MedGen:C2676676,OMIM:604370 17 43104348 43104348 A G 131210 single nucleotide variant NM_007294.3(BRCA1):c.4097-10G>A 80358057 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 43091042 43091042 C T 131210 single nucleotide variant NM_007294.3(BRCA1):c.4097-10G>A 80358057 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 41243059 41243059 C T 131211 single nucleotide variant NM_007294.3(BRCA1):c.4097-11T>C 80358072 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41243060 41243060 A G 131211 single nucleotide variant NM_007294.3(BRCA1):c.4097-11T>C 80358072 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43091043 43091043 A G 131212 single nucleotide variant NM_007294.3(BRCA1):c.4097-141A>C 799916 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091173 43091173 T G 131212 single nucleotide variant NM_007294.3(BRCA1):c.4097-141A>C 799916 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243190 41243190 T G 131213 single nucleotide variant NM_007294.3(BRCA1):c.4097-20C>T 80358169 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 43091052 43091052 G A 131213 single nucleotide variant NM_007294.3(BRCA1):c.4097-20C>T 80358169 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 41243069 41243069 G A 131214 single nucleotide variant NM_007294.3(BRCA1):c.4097-61C>A 273900722 MedGen:C2676676,OMIM:604370 17 41243110 41243110 G T 131214 single nucleotide variant NM_007294.3(BRCA1):c.4097-61C>A 273900722 MedGen:C2676676,OMIM:604370 17 43091093 43091093 G T 131215 single nucleotide variant NM_007294.3(BRCA1):c.4097-7A>G 80358007 MedGen:C2676676,OMIM:604370 17 43091039 43091039 T C 131215 single nucleotide variant NM_007294.3(BRCA1):c.4097-7A>G 80358007 MedGen:C2676676,OMIM:604370 17 41243056 41243056 T C 131216 deletion NM_007294.3(BRCA1):c.4110_4111delTG (p.Gly1371Valfs) 80357529 MedGen:C2676676,OMIM:604370 17 41243035 41243036 CA - 131216 deletion NM_007294.3(BRCA1):c.4110_4111delTG (p.Gly1371Valfs) 80357529 MedGen:C2676676,OMIM:604370 17 43091018 43091019 CA - 131217 insertion NM_007294.3(BRCA1):c.4111_4112insATCT (p.Gly1371Aspfs) 80357935 MedGen:C2676676,OMIM:604370 17 43091017 43091018 - AGAT 131217 insertion NM_007294.3(BRCA1):c.4111_4112insATCT (p.Gly1371Aspfs) 80357935 MedGen:C2676676,OMIM:604370 17 41243034 41243035 - AGAT 131218 deletion NM_007294.3(BRCA1):c.4113delG (p.Cys1372Valfs) 80357861 MedGen:C2676676,OMIM:604370 17 43091016 43091016 C - 131218 deletion NM_007294.3(BRCA1):c.4113delG (p.Cys1372Valfs) 80357861 MedGen:C2676676,OMIM:604370 17 41243033 41243033 C - 131219 deletion NM_007294.3(BRCA1):c.4128_4129delAA (p.Ser1377Argfs) 80357921 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43091000 43091001 TT - 131219 deletion NM_007294.3(BRCA1):c.4128_4129delAA (p.Ser1377Argfs) 80357921 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41243017 41243018 TT - 131220 duplication NM_007294.3(BRCA1):c.4163dupA (p.Ser1389Glufs) 80357788 MedGen:C2676676,OMIM:604370 17 43090966 43090966 T TT 131220 duplication NM_007294.3(BRCA1):c.4163dupA (p.Ser1389Glufs) 80357788 MedGen:C2676676,OMIM:604370 17 41242983 41242983 T TT 131221 insertion NM_007294.3(BRCA1):c.4167_4168insAG (p.Asp1390Argfs) 80357847 MedGen:C2676676,OMIM:604370 17 41242978 41242979 - CT 131221 insertion NM_007294.3(BRCA1):c.4167_4168insAG (p.Asp1390Argfs) 80357847 MedGen:C2676676,OMIM:604370 17 43090961 43090962 - CT 131223 single nucleotide variant NM_007294.3(BRCA1):c.4185+10G>C 80358104 MedGen:C2676676,OMIM:604370 17 41242951 41242951 C G 131223 single nucleotide variant NM_007294.3(BRCA1):c.4185+10G>C 80358104 MedGen:C2676676,OMIM:604370 17 43090934 43090934 C G 131224 deletion NM_007294.3(BRCA1):c.4185+12_4185+13delGT 273900723 MedGen:C2676676,OMIM:604370 17 43090931 43090932 AC - 131224 deletion NM_007294.3(BRCA1):c.4185+12_4185+13delGT 273900723 MedGen:C2676676,OMIM:604370 17 41242948 41242949 AC - 131226 insertion NM_007294.3(BRCA1):c.4185+22_4185+23insTG 273900725 MedGen:C2676676,OMIM:604370 17 43090921 43090922 - CA 131226 insertion NM_007294.3(BRCA1):c.4185+22_4185+23insTG 273900725 MedGen:C2676676,OMIM:604370 17 41242938 41242939 - CA 131227 single nucleotide variant NM_007294.3(BRCA1):c.4185+29C>T 273900726 MedGen:C2676676,OMIM:604370 17 43090915 43090915 G A 131227 single nucleotide variant NM_007294.3(BRCA1):c.4185+29C>T 273900726 MedGen:C2676676,OMIM:604370 17 41242932 41242932 G A 131229 single nucleotide variant NM_007294.3(BRCA1):c.4185+30G>A 80358139 MedGen:C2676676,OMIM:604370 17 43090914 43090914 C T 131229 single nucleotide variant NM_007294.3(BRCA1):c.4185+30G>A 80358139 MedGen:C2676676,OMIM:604370 17 41242931 41242931 C T 131230 deletion NM_007294.3(BRCA1):c.4185+5_4185+7delAAA 398122352 MedGen:C2676676,OMIM:604370 17 43090937 43090939 TTT - 131230 deletion NM_007294.3(BRCA1):c.4185+5_4185+7delAAA 398122352 MedGen:C2676676,OMIM:604370 17 41242954 41242956 TTT - 131233 single nucleotide variant NM_007294.3(BRCA1):c.4186-11C>T 80358080 MedGen:C2676676,OMIM:604370 17 41234603 41234603 G A 131233 single nucleotide variant NM_007294.3(BRCA1):c.4186-11C>T 80358080 MedGen:C2676676,OMIM:604370 17 43082586 43082586 G A 131234 deletion U14680.1:n.4305-1643_del3835 -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131235 single nucleotide variant NM_007294.3(BRCA1):c.4186-19C>T 80358016 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41234611 41234611 G A 131235 single nucleotide variant NM_007294.3(BRCA1):c.4186-19C>T 80358016 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43082594 43082594 G A 131236 deletion NM_007294.3(BRCA1):c.4214delT (p.Ile1405Lysfs) 273900728 MedGen:C2676676,OMIM:604370 17 43082547 43082547 A - 131236 deletion NM_007294.3(BRCA1):c.4214delT (p.Ile1405Lysfs) 273900728 MedGen:C2676676,OMIM:604370 17 41234564 41234564 A - 131238 insertion NM_007294.3(BRCA1):c.4285_4286insG (p.Tyr1429Terfs) 80357716 MedGen:C2676676,OMIM:604370 17 43082475 43082476 - C 131238 insertion NM_007294.3(BRCA1):c.4285_4286insG (p.Tyr1429Terfs) 80357716 MedGen:C2676676,OMIM:604370 17 41234492 41234493 - C 131239 duplication NM_007294.3(BRCA1):c.4289dupC (p.Ser1431Phefs) 80357556 MedGen:C2676676,OMIM:604370 17 43082472 43082472 G GG 131239 duplication NM_007294.3(BRCA1):c.4289dupC (p.Ser1431Phefs) 80357556 MedGen:C2676676,OMIM:604370 17 41234489 41234489 G GG 131241 single nucleotide variant NM_007294.3(BRCA1):c.4308T>C (p.Ser1436=) 1060915 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43082453 43082453 A G 131241 single nucleotide variant NM_007294.3(BRCA1):c.4308T>C (p.Ser1436=) 1060915 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41234470 41234470 A G 131244 insertion NM_007294.3(BRCA1):c.4338_4339ins4 397509164 MedGen:C2676676,OMIM:604370 17 43082422 43082423 na na 131244 insertion NM_007294.3(BRCA1):c.4338_4339ins4 397509164 MedGen:C2676676,OMIM:604370 17 41234439 41234440 na na 131245 single nucleotide variant NM_007294.3(BRCA1):c.4343G>A (p.Ser1448Asn) 80357354 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41234435 41234435 C T 131245 single nucleotide variant NM_007294.3(BRCA1):c.4343G>A (p.Ser1448Asn) 80357354 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43082418 43082418 C T 131246 single nucleotide variant NM_007294.3(BRCA1):c.4357+117G>A 3737559 MedGen:C2676676,OMIM:604370 17 43082287 43082287 C T 131246 single nucleotide variant NM_007294.3(BRCA1):c.4357+117G>A 3737559 MedGen:C2676676,OMIM:604370 17 41234304 41234304 C T 131247 single nucleotide variant NM_007294.3(BRCA1):c.4357+17A>G 80358180 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41234404 41234404 T C 131247 single nucleotide variant NM_007294.3(BRCA1):c.4357+17A>G 80358180 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43082387 43082387 T C 131248 single nucleotide variant NM_007294.3(BRCA1):c.4358-10C>T 80358111 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 43076624 43076624 G A 131248 single nucleotide variant NM_007294.3(BRCA1):c.4358-10C>T 80358111 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 41228641 41228641 G A 131250 duplication NM_007294.3(BRCA1):c.4463dupA (p.Asn1488Lysfs) 80357620 MedGen:C2676676,OMIM:604370 17 43076509 43076509 T TT 131250 duplication NM_007294.3(BRCA1):c.4463dupA (p.Asn1488Lysfs) 80357620 MedGen:C2676676,OMIM:604370 17 41228526 41228526 T TT 131251 single nucleotide variant NM_007294.3(BRCA1):c.4484+10A>G 80358077 MedGen:C2676676,OMIM:604370 17 43076478 43076478 T C 131251 single nucleotide variant NM_007294.3(BRCA1):c.4484+10A>G 80358077 MedGen:C2676676,OMIM:604370 17 41228495 41228495 T C 131252 single nucleotide variant NM_007294.3(BRCA1):c.4484+61G>T 80358185 MedGen:C2676676,OMIM:604370 17 41228444 41228444 C A 131252 single nucleotide variant NM_007294.3(BRCA1):c.4484+61G>T 80358185 MedGen:C2676676,OMIM:604370 17 43076427 43076427 C A 131253 single nucleotide variant NM_007294.3(BRCA1):c.4485-18T>A 80358000 MedGen:C2676676,OMIM:604370 17 43074539 43074539 A T 131253 single nucleotide variant NM_007294.3(BRCA1):c.4485-18T>A 80358000 MedGen:C2676676,OMIM:604370 17 41226556 41226556 A T 131254 single nucleotide variant U14680.1:n.4604-63A>G -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131255 single nucleotide variant U14680.1:n.4604-64C>G -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131256 single nucleotide variant NM_007294.3(BRCA1):c.4485-90T>C 273900735 MedGen:C2676676,OMIM:604370 17 43074611 43074611 A G 131256 single nucleotide variant NM_007294.3(BRCA1):c.4485-90T>C 273900735 MedGen:C2676676,OMIM:604370 17 41226628 41226628 A G 131258 insertion NM_007294.3(BRCA1):c.4644_4645ins8 483353094 MedGen:C2676676,OMIM:604370 17 43074361 43074362 na na 131258 insertion NM_007294.3(BRCA1):c.4644_4645ins8 483353094 MedGen:C2676676,OMIM:604370 17 41226378 41226379 na na 131259 single nucleotide variant NM_007294.3(BRCA1):c.4675+31C>G 273900738 MedGen:C2676676,OMIM:604370 17 41226317 41226317 G C 131259 single nucleotide variant NM_007294.3(BRCA1):c.4675+31C>G 273900738 MedGen:C2676676,OMIM:604370 17 43074300 43074300 G C 131260 single nucleotide variant NM_007294.3(BRCA1):c.4675+3A>T 80358082 MedGen:C2676676,OMIM:604370 17 43074328 43074328 T A 131260 single nucleotide variant NM_007294.3(BRCA1):c.4675+3A>T 80358082 MedGen:C2676676,OMIM:604370 17 41226345 41226345 T A 131261 single nucleotide variant NM_007294.3(BRCA1):c.4676-10T>A 80358122 MedGen:C2676676,OMIM:604370 17 41223265 41223265 A T 131261 single nucleotide variant NM_007294.3(BRCA1):c.4676-10T>A 80358122 MedGen:C2676676,OMIM:604370 17 43071248 43071248 A T 131262 single nucleotide variant NM_007294.3(BRCA1):c.4676-11A>G 80358088 MedGen:C2676676,OMIM:604370 17 43071249 43071249 T C 131262 single nucleotide variant NM_007294.3(BRCA1):c.4676-11A>G 80358088 MedGen:C2676676,OMIM:604370 17 41223266 41223266 T C 131263 single nucleotide variant NM_007294.3(BRCA1):c.4676-1G>A 80358008 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43071239 43071239 C T 131263 single nucleotide variant NM_007294.3(BRCA1):c.4676-1G>A 80358008 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41223256 41223256 C T 131264 single nucleotide variant NM_007294.3(BRCA1):c.4676-2A>G 80358096 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41223257 41223257 T C 131264 single nucleotide variant NM_007294.3(BRCA1):c.4676-2A>G 80358096 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43071240 43071240 T C 131265 single nucleotide variant NM_007294.3(BRCA1):c.4676-8C>G 80358021 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43071246 43071246 G C 131265 single nucleotide variant NM_007294.3(BRCA1):c.4676-8C>G 80358021 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41223263 41223263 G C 131266 insertion NM_007294.3(BRCA1):c.4696_4697insA (p.Ser1566Tyrfs) 483353095 MedGen:C2676676,OMIM:604370 17 41223234 41223235 - T 131266 insertion NM_007294.3(BRCA1):c.4696_4697insA (p.Ser1566Tyrfs) 483353095 MedGen:C2676676,OMIM:604370 17 43071217 43071218 - T 131267 single nucleotide variant NM_007294.3(BRCA1):c.4730C>A (p.Ser1577Tyr) 273901741 MedGen:C2676676,OMIM:604370 17 43071184 43071184 G T 131267 single nucleotide variant NM_007294.3(BRCA1):c.4730C>A (p.Ser1577Tyr) 273901741 MedGen:C2676676,OMIM:604370 17 41223201 41223201 G T 131268 deletion NM_007294.3(BRCA1):c.4764_4765delTC (p.Arg1589Cysfs) 80357795 MedGen:C2676676,OMIM:604370 17 41223166 41223167 GA - 131268 deletion NM_007294.3(BRCA1):c.4764_4765delTC (p.Arg1589Cysfs) 80357795 MedGen:C2676676,OMIM:604370 17 43071149 43071150 GA - 131269 single nucleotide variant NM_007294.3(BRCA1):c.4826A>G (p.Glu1609Gly) 483353096 MedGen:C2676676,OMIM:604370 17 43071088 43071088 T C 131269 single nucleotide variant NM_007294.3(BRCA1):c.4826A>G (p.Glu1609Gly) 483353096 MedGen:C2676676,OMIM:604370 17 41223105 41223105 T C 131270 duplication NM_007294.3(BRCA1):c.4843dupG (p.Ala1615Glyfs) 80357615 MedGen:C2676676,OMIM:604370 17 43071071 43071071 C CC 131270 duplication NM_007294.3(BRCA1):c.4843dupG (p.Ala1615Glyfs) 80357615 MedGen:C2676676,OMIM:604370 17 41223088 41223088 C CC 131271 duplication NM_007294.3(BRCA1):c.4891dupA (p.Ser1631Lysfs) 80357656 MedGen:C2676676,OMIM:604370 17 41223040 41223040 T TT 131271 duplication NM_007294.3(BRCA1):c.4891dupA (p.Ser1631Lysfs) 80357656 MedGen:C2676676,OMIM:604370 17 43071023 43071023 T TT 131275 deletion NM_007294.3(BRCA1):c.4944_4945delAA (p.Arg1649Asnfs) 80357655 MedGen:C2676676,OMIM:604370 17 43070969 43070970 TT - 131275 deletion NM_007294.3(BRCA1):c.4944_4945delAA (p.Arg1649Asnfs) 80357655 MedGen:C2676676,OMIM:604370 17 41222986 41222987 TT - 131276 single nucleotide variant NM_007294.3(BRCA1):c.4986+1G>A 80358162 MedGen:C2676676,OMIM:604370 17 43070927 43070927 C T 131276 single nucleotide variant NM_007294.3(BRCA1):c.4986+1G>A 80358162 MedGen:C2676676,OMIM:604370 17 41222944 41222944 C T 131277 single nucleotide variant NM_007294.3(BRCA1):c.4986+68A>G 80358036 MedGen:C2676676,OMIM:604370 17 43070860 43070860 T C 131277 single nucleotide variant NM_007294.3(BRCA1):c.4986+68A>G 80358036 MedGen:C2676676,OMIM:604370 17 41222877 41222877 T C 131278 single nucleotide variant NM_007294.3(BRCA1):c.4987-11T>C 80358170 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41219723 41219723 A G 131278 single nucleotide variant NM_007294.3(BRCA1):c.4987-11T>C 80358170 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43067706 43067706 A G 131279 insertion U14680.1:n.5106-19delTins4 -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131280 single nucleotide variant U14680.1:n.5106-1A>G -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131281 single nucleotide variant NM_007294.3(BRCA1):c.4987-40G>C 80358056 MedGen:C2676676,OMIM:604370 17 43067735 43067735 C G 131281 single nucleotide variant NM_007294.3(BRCA1):c.4987-40G>C 80358056 MedGen:C2676676,OMIM:604370 17 41219752 41219752 C G 131282 deletion NM_007294.3(BRCA1):c.4987-581_4987-499del -1 MedGen:C2676676,OMIM:604370 17 43068194 43068276 na na 131282 deletion NM_007294.3(BRCA1):c.4987-581_4987-499del -1 MedGen:C2676676,OMIM:604370 17 41220211 41220293 na na 131283 deletion U14680.1:n.5106-581_del1014 -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131284 single nucleotide variant NM_007294.3(BRCA1):c.4987-68A>G 8176234 MedGen:C2676676,OMIM:604370 17 43067763 43067763 T C 131284 single nucleotide variant NM_007294.3(BRCA1):c.4987-68A>G 8176234 MedGen:C2676676,OMIM:604370 17 41219780 41219780 T C 131285 single nucleotide variant U14680.1:n.5106-68G>A -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131286 single nucleotide variant NM_007294.3(BRCA1):c.4987-69G>A 80358121 MedGen:C2676676,OMIM:604370 17 43067764 43067764 C T 131286 single nucleotide variant NM_007294.3(BRCA1):c.4987-69G>A 80358121 MedGen:C2676676,OMIM:604370 17 41219781 41219781 C T 131287 single nucleotide variant NM_007294.3(BRCA1):c.4987-92A>G 8176233 MedGen:C2676676,OMIM:604370 17 41219804 41219804 T C 131287 single nucleotide variant NM_007294.3(BRCA1):c.4987-92A>G 8176233 MedGen:C2676676,OMIM:604370 17 43067787 43067787 T C 131288 deletion U14680.1:n.5106_5396del291 -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131289 deletion U14680.1:n.5118_5120delAAT -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131290 insertion NM_007294.3(BRCA1):c.5007_5008ins13 (p.?) 483353097 MedGen:C2676676,OMIM:604370 17 41219691 41219692 na na 131290 insertion NM_007294.3(BRCA1):c.5007_5008ins13 (p.?) 483353097 MedGen:C2676676,OMIM:604370 17 43067674 43067675 na na 131293 insertion NM_007294.3(BRCA1):c.5033_5034ins4 483353098 MedGen:C2676676,OMIM:604370 17 43067648 43067649 na na 131293 insertion NM_007294.3(BRCA1):c.5033_5034ins4 483353098 MedGen:C2676676,OMIM:604370 17 41219665 41219666 na na 131294 duplication NM_007294.3(BRCA1):c.5056dupC (p.His1686Profs) 80357974 MedGen:C2676676,OMIM:604370 17 43067626 43067626 G GG 131294 duplication NM_007294.3(BRCA1):c.5056dupC (p.His1686Profs) 80357974 MedGen:C2676676,OMIM:604370 17 41219643 41219643 G GG 131297 single nucleotide variant NM_007294.3(BRCA1):c.5075-1G>C 1800747 MedGen:C2676676,OMIM:604370 17 41215969 41215969 C G 131297 single nucleotide variant NM_007294.3(BRCA1):c.5075-1G>C 1800747 MedGen:C2676676,OMIM:604370 17 43063952 43063952 C G 131298 single nucleotide variant NM_007294.3(BRCA1):c.5075-53C>T 8176258 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43064004 43064004 G A 131298 single nucleotide variant NM_007294.3(BRCA1):c.5075-53C>T 8176258 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41216021 41216021 G A 131299 single nucleotide variant NM_007294.3(BRCA1):c.5075-9A>T 80358059 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41215977 41215977 T A 131299 single nucleotide variant NM_007294.3(BRCA1):c.5075-9A>T 80358059 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43063960 43063960 T A 131301 deletion NM_007294.3(BRCA1):c.5098delA (p.Thr1700Hisfs) 483353099 MedGen:C2676676,OMIM:604370 17 43063928 43063928 T - 131301 deletion NM_007294.3(BRCA1):c.5098delA (p.Thr1700Hisfs) 483353099 MedGen:C2676676,OMIM:604370 17 41215945 41215945 T - 131303 deletion NM_007294.3(BRCA1):c.5145delC (p.Tyr1716Ilefs) 80357870 MedGen:C2676676,OMIM:604370 17 43063881 43063881 G - 131303 deletion NM_007294.3(BRCA1):c.5145delC (p.Tyr1716Ilefs) 80357870 MedGen:C2676676,OMIM:604370 17 41215898 41215898 G - 131305 single nucleotide variant NM_007294.3(BRCA1):c.5152+13C>A 80358136 MedGen:C2676676,OMIM:604370 17 43063861 43063861 G T 131305 single nucleotide variant NM_007294.3(BRCA1):c.5152+13C>A 80358136 MedGen:C2676676,OMIM:604370 17 41215878 41215878 G T 131306 single nucleotide variant NM_007294.3(BRCA1):c.5152+1G>A 80358094 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41215890 41215890 C T 131306 single nucleotide variant NM_007294.3(BRCA1):c.5152+1G>A 80358094 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43063873 43063873 C T 131310 insertion NM_007294.3(BRCA1):c.5152+3_5152+4insT 273901744 MedGen:C2676676,OMIM:604370 17 41215887 41215888 - A 131310 insertion NM_007294.3(BRCA1):c.5152+3_5152+4insT 273901744 MedGen:C2676676,OMIM:604370 17 43063870 43063871 - A 131312 single nucleotide variant U14680.1:n.5271+65G>A -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131314 single nucleotide variant NM_007294.3(BRCA1):c.5152+6T>A 80358074 MedGen:C2676676,OMIM:604370 17 41215885 41215885 A T 131314 single nucleotide variant NM_007294.3(BRCA1):c.5152+6T>A 80358074 MedGen:C2676676,OMIM:604370 17 43063868 43063868 A T 131315 single nucleotide variant NM_007294.3(BRCA1):c.5152+6T>C 80358074 MedGen:C2676676,OMIM:604370 17 43063868 43063868 A G 131315 single nucleotide variant NM_007294.3(BRCA1):c.5152+6T>C 80358074 MedGen:C2676676,OMIM:604370 17 41215885 41215885 A G 131316 single nucleotide variant NM_007294.3(BRCA1):c.5152+6T>G 80358074 MedGen:C2676676,OMIM:604370 17 41215885 41215885 A C 131316 single nucleotide variant NM_007294.3(BRCA1):c.5152+6T>G 80358074 MedGen:C2676676,OMIM:604370 17 43063868 43063868 A C 131317 single nucleotide variant U14680.1:n.5271+73G>A -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131319 deletion U14680.1:n.5271+80delT -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131320 deletion NM_007294.3(BRCA1):c.5152+85del 8176259 MedGen:C2676676,OMIM:604370 17 43063789 43063789 A - 131320 deletion NM_007294.3(BRCA1):c.5152+85del 8176259 MedGen:C2676676,OMIM:604370 17 41215806 41215806 A - 131321 single nucleotide variant NM_007294.3(BRCA1):c.5153-13A>G 45471406 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41215403 41215403 T C 131321 single nucleotide variant NM_007294.3(BRCA1):c.5153-13A>G 45471406 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43063386 43063386 T C 131324 single nucleotide variant NM_007294.3(BRCA1):c.5153-26A>G 80358109 MedGen:C2676676,OMIM:604370 17 43063399 43063399 T C 131324 single nucleotide variant NM_007294.3(BRCA1):c.5153-26A>G 80358109 MedGen:C2676676,OMIM:604370 17 41215416 41215416 T C 131326 single nucleotide variant U14680.1:n.5272-42C>A -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131327 single nucleotide variant U14680.1:n.5272-66G>A -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131329 single nucleotide variant NM_007294.3(BRCA1):c.5164T>C (p.Ser1722Pro) 483353100 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43063362 43063362 A G 131329 single nucleotide variant NM_007294.3(BRCA1):c.5164T>C (p.Ser1722Pro) 483353100 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41215379 41215379 A G 131331 single nucleotide variant NM_007294.3(BRCA1):c.5193+101T>C 273901749 MedGen:C2676676,OMIM:604370 17 41215249 41215249 A G 131331 single nucleotide variant NM_007294.3(BRCA1):c.5193+101T>C 273901749 MedGen:C2676676,OMIM:604370 17 43063232 43063232 A G 131332 single nucleotide variant U14680.1:n.5312+13G>A -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131336 deletion U14680.1:n.5312+3_del13 -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131337 deletion U14680.1:n.5312+4delT -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131338 deletion U14680.1:n.5312+85delT -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131339 deletion U14680.1:n.5312_5395del84incDNA -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131341 single nucleotide variant NM_007294.3(BRCA1):c.5194-18G>T 80358090 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43057153 43057153 C A 131341 single nucleotide variant NM_007294.3(BRCA1):c.5194-18G>T 80358090 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41209170 41209170 C A 131342 single nucleotide variant NM_007294.3(BRCA1):c.5194-1G>A 80358173 MedGen:C2676676,OMIM:604370 17 41209153 41209153 C T 131342 single nucleotide variant NM_007294.3(BRCA1):c.5194-1G>A 80358173 MedGen:C2676676,OMIM:604370 17 43057136 43057136 C T 131344 single nucleotide variant NM_007294.3(BRCA1):c.5200T>C (p.Phe1734Leu) 80356957 MedGen:C2676676,OMIM:604370 17 41209146 41209146 A G 131344 single nucleotide variant NM_007294.3(BRCA1):c.5200T>C (p.Phe1734Leu) 80356957 MedGen:C2676676,OMIM:604370 17 43057129 43057129 A G 131345 deletion NM_007294.3(BRCA1):c.5241delA (p.Gly1748Valfs) 80357791 MedGen:C2676676,OMIM:604370 17 43057088 43057088 T - 131345 deletion NM_007294.3(BRCA1):c.5241delA (p.Gly1748Valfs) 80357791 MedGen:C2676676,OMIM:604370 17 41209105 41209105 T - 131347 deletion U14680.1:n.5389_5395delCAGAAAG -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131348 deletion U14680.1:n.5396+1_del6 -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131349 insertion NM_007294.3(BRCA1):c.5277+47_5277+48ins20 483353101 MedGen:C2676676,OMIM:604370 17 41209021 41209022 na na 131349 insertion NM_007294.3(BRCA1):c.5277+47_5277+48ins20 483353101 MedGen:C2676676,OMIM:604370 17 43057004 43057005 na na 131350 insertion NM_007294.3(BRCA1):c.5277+48_5277+49insGTATTCCACTCC 273901756 MedGen:C2676676,OMIM:604370 17 43057003 43057004 - GGAGTGGAATAC 131350 insertion NM_007294.3(BRCA1):c.5277+48_5277+49insGTATTCCACTCC 273901756 MedGen:C2676676,OMIM:604370 17 41209020 41209021 - GGAGTGGAATAC 131351 insertion NM_007294.3(BRCA1):c.5277+60_5277+61insGTATTCCACTCC 273901757 MedGen:C2676676,OMIM:604370 17 43056991 43056992 - GGAGTGGAATAC 131351 insertion NM_007294.3(BRCA1):c.5277+60_5277+61insGTATTCCACTCC 273901757 MedGen:C2676676,OMIM:604370 17 41209008 41209009 - GGAGTGGAATAC 131353 single nucleotide variant NM_007294.3(BRCA1):c.5277+77C>T 273901758 MedGen:C2676676,OMIM:604370 17 43056975 43056975 G A 131353 single nucleotide variant NM_007294.3(BRCA1):c.5277+77C>T 273901758 MedGen:C2676676,OMIM:604370 17 41208992 41208992 G A 131354 single nucleotide variant U14680.1:n.5396+77G>A -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131355 single nucleotide variant NM_007294.3(BRCA1):c.5277+78G>A 80358107 MedGen:C2676676,OMIM:604370 17 43056974 43056974 C T 131355 single nucleotide variant NM_007294.3(BRCA1):c.5277+78G>A 80358107 MedGen:C2676676,OMIM:604370 17 41208991 41208991 C T 131356 deletion NM_007294.3(BRCA1):c.5278-4_5278-2del 273901760 MedGen:C2676676,OMIM:604370 17 41203136 41203138 TGG - 131356 deletion NM_007294.3(BRCA1):c.5278-4_5278-2del 273901760 MedGen:C2676676,OMIM:604370 17 43051119 43051121 TGG - 131358 deletion NM_007294.3(BRCA1):c.5304delC (p.Tyr1769Metfs) 80357959 MedGen:C2676676,OMIM:604370 17 43051091 43051091 G - 131358 deletion NM_007294.3(BRCA1):c.5304delC (p.Tyr1769Metfs) 80357959 MedGen:C2676676,OMIM:604370 17 41203108 41203108 G - 131360 deletion U14680.1:n.5430_5452del23 -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131362 single nucleotide variant NM_007294.3(BRCA1):c.5332+15G>C 80358148 MedGen:C2676676,OMIM:604370 17 43051048 43051048 C G 131362 single nucleotide variant NM_007294.3(BRCA1):c.5332+15G>C 80358148 MedGen:C2676676,OMIM:604370 17 41203065 41203065 C G 131363 single nucleotide variant NM_007294.3(BRCA1):c.5332+2T>A 80358182 MedGen:C2676676,OMIM:604370 17 41203078 41203078 A T 131363 single nucleotide variant NM_007294.3(BRCA1):c.5332+2T>A 80358182 MedGen:C2676676,OMIM:604370 17 43051061 43051061 A T 131364 single nucleotide variant NM_007294.3(BRCA1):c.5332+31G>A 80358190 MedGen:C2676676,OMIM:604370 17 43051032 43051032 C T 131364 single nucleotide variant NM_007294.3(BRCA1):c.5332+31G>A 80358190 MedGen:C2676676,OMIM:604370 17 41203049 41203049 C T 131365 single nucleotide variant NM_007294.3(BRCA1):c.5332+4A>G 80358166 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43051059 43051059 T C 131365 single nucleotide variant NM_007294.3(BRCA1):c.5332+4A>G 80358166 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41203076 41203076 T C 131366 single nucleotide variant U14680.1:n.5451+78G>A -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131367 deletion U14680.1:n.5452-36_del510 -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131368 deletion NM_007294.3(BRCA1):c.5333-4_5333-2del3 273901764 MedGen:C2676676,OMIM:604370 17 41201213 41201215 TAA - 131368 deletion NM_007294.3(BRCA1):c.5333-4_5333-2del3 273901764 MedGen:C2676676,OMIM:604370 17 43049196 43049198 TAA - 131369 single nucleotide variant NM_007294.3(BRCA1):c.5333-8C>T 80358084 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43049202 43049202 G A 131369 single nucleotide variant NM_007294.3(BRCA1):c.5333-8C>T 80358084 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41201219 41201219 G A 131370 duplication NM_007294.3(BRCA1):c.5352dupA (p.Gln1785Thrfs) 80357744 MedGen:C2676676,OMIM:604370 17 43049175 43049175 T TT 131370 duplication NM_007294.3(BRCA1):c.5352dupA (p.Gln1785Thrfs) 80357744 MedGen:C2676676,OMIM:604370 17 41201192 41201192 T TT 131371 deletion NM_007294.3(BRCA1):c.5370_5397del28 (p.Val1791Leufs) 80359878 MedGen:C2676676,OMIM:604370 17 43049130 43049157 na na 131371 deletion NM_007294.3(BRCA1):c.5370_5397del28 (p.Val1791Leufs) 80359878 MedGen:C2676676,OMIM:604370 17 41201147 41201174 na na 131375 deletion NM_007294.3(BRCA1):c.5406+2del 273901765 MedGen:C2676676,OMIM:604370 17 43049119 43049119 A - 131375 deletion NM_007294.3(BRCA1):c.5406+2del 273901765 MedGen:C2676676,OMIM:604370 17 41201136 41201136 A - 131377 single nucleotide variant NM_007294.3(BRCA1):c.5406+53A>T 273901766 MedGen:C2676676,OMIM:604370 17 43049068 43049068 T A 131377 single nucleotide variant NM_007294.3(BRCA1):c.5406+53A>T 273901766 MedGen:C2676676,OMIM:604370 17 41201085 41201085 T A 131380 single nucleotide variant NM_007294.3(BRCA1):c.5406+68T>C 8176307 MedGen:C2676676,OMIM:604370 17 41201070 41201070 A G 131380 single nucleotide variant NM_007294.3(BRCA1):c.5406+68T>C 8176307 MedGen:C2676676,OMIM:604370 17 43049053 43049053 A G 131381 single nucleotide variant NM_007294.3(BRCA1):c.5406+8T>C 55946644 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43049113 43049113 A G 131381 single nucleotide variant NM_007294.3(BRCA1):c.5406+8T>C 55946644 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41201130 41201130 A G 131382 single nucleotide variant NM_007294.3(BRCA1):c.5406+9T>C 80358040 MedGen:C2676676,OMIM:604370 17 41201129 41201129 A G 131382 single nucleotide variant NM_007294.3(BRCA1):c.5406+9T>C 80358040 MedGen:C2676676,OMIM:604370 17 43049112 43049112 A G 131383 single nucleotide variant NM_007294.3(BRCA1):c.5407-1G>A 80358029 MedGen:C2676676,OMIM:604370 17 43047704 43047704 C T 131383 single nucleotide variant NM_007294.3(BRCA1):c.5407-1G>A 80358029 MedGen:C2676676,OMIM:604370 17 41199721 41199721 C T 131384 single nucleotide variant NM_007294.3(BRCA1):c.5407-1G>C 80358029 MedGen:C2676676,OMIM:604370 17 43047704 43047704 C G 131384 single nucleotide variant NM_007294.3(BRCA1):c.5407-1G>C 80358029 MedGen:C2676676,OMIM:604370 17 41199721 41199721 C G 131385 single nucleotide variant NM_007294.3(BRCA1):c.5407-21C>T 273901768 MedGen:C2676676,OMIM:604370 17 41199741 41199741 G A 131385 single nucleotide variant NM_007294.3(BRCA1):c.5407-21C>T 273901768 MedGen:C2676676,OMIM:604370 17 43047724 43047724 G A 131386 single nucleotide variant NM_007294.3(BRCA1):c.5407-2A>T 80358002 MedGen:C2676676,OMIM:604370 17 43047705 43047705 T A 131386 single nucleotide variant NM_007294.3(BRCA1):c.5407-2A>T 80358002 MedGen:C2676676,OMIM:604370 17 41199722 41199722 T A 131388 insertion NM_007294.3(BRCA1):c.5464_5465insT (p.His1822Leufs) 273902769 MedGen:C2676676,OMIM:604370 17 43047645 43047646 - A 131388 insertion NM_007294.3(BRCA1):c.5464_5465insT (p.His1822Leufs) 273902769 MedGen:C2676676,OMIM:604370 17 41199662 41199663 - A 131389 single nucleotide variant NM_007294.3(BRCA1):c.5467+2T>C 80358009 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43047641 43047641 A G 131389 single nucleotide variant NM_007294.3(BRCA1):c.5467+2T>C 80358009 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41199658 41199658 A G 131390 single nucleotide variant NM_007294.3(BRCA1):c.5467+2T>G 80358009 MedGen:C2676676,OMIM:604370 17 43047641 43047641 A C 131390 single nucleotide variant NM_007294.3(BRCA1):c.5467+2T>G 80358009 MedGen:C2676676,OMIM:604370 17 41199658 41199658 A C 131391 single nucleotide variant NM_007294.3(BRCA1):c.5467+9C>T 80358031 MedGen:C2676676,OMIM:604370 17 43047634 43047634 G A 131391 single nucleotide variant NM_007294.3(BRCA1):c.5467+9C>T 80358031 MedGen:C2676676,OMIM:604370 17 41199651 41199651 G A 131392 single nucleotide variant NM_007294.3(BRCA1):c.5468-17G>A 80358176 MedGen:C2676676,OMIM:604370 17 41197836 41197836 C T 131392 single nucleotide variant NM_007294.3(BRCA1):c.5468-17G>A 80358176 MedGen:C2676676,OMIM:604370 17 43045819 43045819 C T 131393 single nucleotide variant NM_007294.3(BRCA1):c.5468-18T>A 80358157 MedGen:C2676676,OMIM:604370 17 43045820 43045820 A T 131393 single nucleotide variant NM_007294.3(BRCA1):c.5468-18T>A 80358157 MedGen:C2676676,OMIM:604370 17 41197837 41197837 A T 131394 single nucleotide variant NM_007294.3(BRCA1):c.5468-1G>A 80358048 MedGen:C2676676,OMIM:604370 17 41197820 41197820 C T 131394 single nucleotide variant NM_007294.3(BRCA1):c.5468-1G>A 80358048 MedGen:C2676676,OMIM:604370 17 43045803 43045803 C T 131395 single nucleotide variant NM_007294.3(BRCA1):c.5468-40T>A 80358151 MedGen:C2676676,OMIM:604370 17 43045842 43045842 A T 131395 single nucleotide variant NM_007294.3(BRCA1):c.5468-40T>A 80358151 MedGen:C2676676,OMIM:604370 17 41197859 41197859 A T 131396 single nucleotide variant NM_007294.3(BRCA1):c.441+36C>T 45569832 MedGen:C2676676,OMIM:604370 17 43104086 43104086 G A 131396 single nucleotide variant NM_007294.3(BRCA1):c.441+36C>T 45569832 MedGen:C2676676,OMIM:604370 17 41256103 41256103 G A 131397 single nucleotide variant NM_007294.3(BRCA1):c.441+3A>G 80358140 MedGen:C2676676,OMIM:604370 17 41256136 41256136 T C 131397 single nucleotide variant NM_007294.3(BRCA1):c.441+3A>G 80358140 MedGen:C2676676,OMIM:604370 17 43104119 43104119 T C 131398 single nucleotide variant NM_007294.3(BRCA1):c.441+41C>T 45489593 MedGen:C2676676,OMIM:604370 17 43104081 43104081 G A 131398 single nucleotide variant NM_007294.3(BRCA1):c.441+41C>T 45489593 MedGen:C2676676,OMIM:604370 17 41256098 41256098 G A 131399 deletion NM_007294.3(BRCA1):c.5490delA (p.Pro1831Leufs) 80357976 MedGen:C2676676,OMIM:604370 17 41197797 41197797 T - 131399 deletion NM_007294.3(BRCA1):c.5490delA (p.Pro1831Leufs) 80357976 MedGen:C2676676,OMIM:604370 17 43045780 43045780 T - 131400 single nucleotide variant NM_007294.3(BRCA1):c.442-104G>C 273900732 MedGen:C2676676,OMIM:604370 17 43099984 43099984 C G 131400 single nucleotide variant NM_007294.3(BRCA1):c.442-104G>C 273900732 MedGen:C2676676,OMIM:604370 17 41252001 41252001 C G 131401 single nucleotide variant NM_007294.3(BRCA1):c.442-2A>C 80358155 MedGen:C2676676,OMIM:604370 17 41251899 41251899 T G 131401 single nucleotide variant NM_007294.3(BRCA1):c.442-2A>C 80358155 MedGen:C2676676,OMIM:604370 17 43099882 43099882 T G 131402 single nucleotide variant NM_007294.3(BRCA1):c.442-34C>T 799923 MedGen:C2676676,OMIM:604370 17 43099914 43099914 G A 131402 single nucleotide variant NM_007294.3(BRCA1):c.442-34C>T 799923 MedGen:C2676676,OMIM:604370 17 41251931 41251931 G A 131403 deletion U14680.1:n.561-36_561-34delCTT -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131404 deletion NM_007294.3(BRCA1):c.442-3delT 273900733 MedGen:C2676676,OMIM:604370 17 41251900 41251900 A - 131404 deletion NM_007294.3(BRCA1):c.442-3delT 273900733 MedGen:C2676676,OMIM:604370 17 43099883 43099883 A - 131405 deletion NM_007294.3(BRCA1):c.5498_5511delTGACCCGAGAGTGG (p.Val1833Glyfs) 80359873 MedGen:C2676676,OMIM:604370 17 43045759 43045772 CCACTCTCGGGTCA - 131405 deletion NM_007294.3(BRCA1):c.5498_5511delTGACCCGAGAGTGG (p.Val1833Glyfs) 80359873 MedGen:C2676676,OMIM:604370 17 41197776 41197789 CCACTCTCGGGTCA - 131407 single nucleotide variant L824X -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131408 indel NM_007294.3(BRCA1):c.5534_5539delACCAGTins20 (p.?) 483353102 MedGen:C2676676,OMIM:604370 17 41197748 41197753 na na 131408 indel NM_007294.3(BRCA1):c.5534_5539delACCAGTins20 (p.?) 483353102 MedGen:C2676676,OMIM:604370 17 43045731 43045736 na na 131409 indel NM_007294.3(BRCA1):c.5563delAins6 483353103 MedGen:C2676676,OMIM:604370 17 43045707 43045707 na na 131409 indel NM_007294.3(BRCA1):c.5563delAins6 483353103 MedGen:C2676676,OMIM:604370 17 41197724 41197724 na na 131410 single nucleotide variant U14680.1:n.5711+42G>A -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131411 single nucleotide variant NM_007294.3(BRCA1):c.*36C>G 3092995 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41197659 41197659 G C 131411 single nucleotide variant NM_007294.3(BRCA1):c.*36C>G 3092995 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43045642 43045642 G C 131412 deletion NM_007294.3(BRCA1):c.456_457delCA (p.Ser153Cysfs) 80357882 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43099865 43099866 TG - 131412 deletion NM_007294.3(BRCA1):c.456_457delCA (p.Ser153Cysfs) 80357882 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41251882 41251883 TG - 131413 single nucleotide variant NM_007294.3(BRCA1):c.*106C>G 189442183 MedGen:C2676676,OMIM:604370 17 41197589 41197589 G C 131413 single nucleotide variant NM_007294.3(BRCA1):c.*106C>G 189442183 MedGen:C2676676,OMIM:604370 17 43045572 43045572 G C 131415 deletion NM_007294.3(BRCA1):c.470delC (p.Ser157Leufs) 483353105 MedGen:C2676676,OMIM:604370 17 43099852 43099852 G - 131415 deletion NM_007294.3(BRCA1):c.470delC (p.Ser157Leufs) 483353105 MedGen:C2676676,OMIM:604370 17 41251869 41251869 G - 131417 single nucleotide variant NM_007294.3(BRCA1):c.547+146A>T 8176140 MedGen:C2676676,OMIM:604370 17 43099629 43099629 T A 131417 single nucleotide variant NM_007294.3(BRCA1):c.547+146A>T 8176140 MedGen:C2676676,OMIM:604370 17 41251646 41251646 T A 131418 deletion NM_007294.3(BRCA1):c.547+14delG 273902771 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41251778 41251778 C - 131418 deletion NM_007294.3(BRCA1):c.547+14delG 273902771 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43099761 43099761 C - 131419 single nucleotide variant NM_007294.3(BRCA1):c.547+1G>A 80358030 MedGen:C2676676,OMIM:604370 17 43099774 43099774 C T 131419 single nucleotide variant NM_007294.3(BRCA1):c.547+1G>A 80358030 MedGen:C2676676,OMIM:604370 17 41251791 41251791 C T 131420 single nucleotide variant NM_007294.3(BRCA1):c.547+24T>G 80358130 MedGen:C2676676,OMIM:604370 17 41251768 41251768 A C 131420 single nucleotide variant NM_007294.3(BRCA1):c.547+24T>G 80358130 MedGen:C2676676,OMIM:604370 17 43099751 43099751 A C 131421 single nucleotide variant NM_007294.3(BRCA1):c.548-12G>A 80358164 MedGen:C2676676,OMIM:604370 17 43097301 43097301 C T 131421 single nucleotide variant NM_007294.3(BRCA1):c.548-12G>A 80358164 MedGen:C2676676,OMIM:604370 17 41249318 41249318 C T 131422 single nucleotide variant NM_007294.3(BRCA1):c.548-13G>T 80358115 MedGen:C2676676,OMIM:604370 17 43097302 43097302 C A 131422 single nucleotide variant NM_007294.3(BRCA1):c.548-13G>T 80358115 MedGen:C2676676,OMIM:604370 17 41249319 41249319 C A 131423 single nucleotide variant NM_007294.3(BRCA1):c.548-16G>A 80358171 MedGen:C2676676,OMIM:604370 17 41249322 41249322 C T 131423 single nucleotide variant NM_007294.3(BRCA1):c.548-16G>A 80358171 MedGen:C2676676,OMIM:604370 17 43097305 43097305 C T 131425 deletion NM_007294.3(BRCA1):c.548-3delT 398122353 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43097292 43097292 A - 131425 deletion NM_007294.3(BRCA1):c.548-3delT 398122353 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41249309 41249309 A - 131426 deletion U14680.1:n.667-57delT -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131427 deletion NM_007294.3(BRCA1):c.548-58delT 8176144 MedGen:C2676676,OMIM:604370 17 43097347 43097347 A - 131427 deletion NM_007294.3(BRCA1):c.548-58delT 8176144 MedGen:C2676676,OMIM:604370 17 41249364 41249364 A - 131429 deletion NM_007294.3(BRCA1):c.548-68delT 273902773 MedGen:C2676676,OMIM:604370 17 43097357 43097357 A - 131429 deletion NM_007294.3(BRCA1):c.548-68delT 273902773 MedGen:C2676676,OMIM:604370 17 41249374 41249374 A - 131430 single nucleotide variant NM_007294.3(BRCA1):c.548-9A>G 80358052 MedGen:C2676676,OMIM:604370 17 41249315 41249315 T C 131430 single nucleotide variant NM_007294.3(BRCA1):c.548-9A>G 80358052 MedGen:C2676676,OMIM:604370 17 43097298 43097298 T C 131433 single nucleotide variant NM_007294.3(BRCA1):c.593+10A>G 80358187 MedGen:C2676676,OMIM:604370 17 43097234 43097234 T C 131433 single nucleotide variant NM_007294.3(BRCA1):c.593+10A>G 80358187 MedGen:C2676676,OMIM:604370 17 41249251 41249251 T C 131434 single nucleotide variant NM_007294.3(BRCA1):c.594-15G>C 80358102 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43095937 43095937 C G 131434 single nucleotide variant NM_007294.3(BRCA1):c.594-15G>C 80358102 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41247954 41247954 C G 131435 single nucleotide variant NM_007294.3(BRCA1):c.594-20A>G 80358017 MedGen:C2676676,OMIM:604370 17 43095942 43095942 T C 131435 single nucleotide variant NM_007294.3(BRCA1):c.594-20A>G 80358017 MedGen:C2676676,OMIM:604370 17 41247959 41247959 T C 131436 single nucleotide variant NM_007294.3(BRCA1):c.594-4A>G 80358081 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43095926 43095926 T C 131436 single nucleotide variant NM_007294.3(BRCA1):c.594-4A>G 80358081 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41247943 41247943 T C 131437 insertion NM_007294.3(BRCA1):c.625_626ins20 (p.?) 483353106 MedGen:C2676676,OMIM:604370 17 41247907 41247908 na na 131437 insertion NM_007294.3(BRCA1):c.625_626ins20 (p.?) 483353106 MedGen:C2676676,OMIM:604370 17 43095890 43095891 na na 131438 duplication NM_007294.3(BRCA1):c.668dupA (p.Ala224Glyfs) 80357537 MedGen:C2676676,OMIM:604370 17 43095848 43095848 T TT 131438 duplication NM_007294.3(BRCA1):c.668dupA (p.Ala224Glyfs) 80357537 MedGen:C2676676,OMIM:604370 17 41247865 41247865 T TT 131439 single nucleotide variant NM_007294.3(BRCA1):c.670+45G>A 273902780 MedGen:C2676676,OMIM:604370 17 41247818 41247818 C T 131439 single nucleotide variant NM_007294.3(BRCA1):c.670+45G>A 273902780 MedGen:C2676676,OMIM:604370 17 43095801 43095801 C T 131440 single nucleotide variant NM_007294.3(BRCA1):c.670+7G>A 80358167 MedGen:C2676676,OMIM:604370 17 43095839 43095839 C T 131440 single nucleotide variant NM_007294.3(BRCA1):c.670+7G>A 80358167 MedGen:C2676676,OMIM:604370 17 41247856 41247856 C T 131441 single nucleotide variant NM_007294.3(BRCA1):c.670+8C>G 80358050 MedGen:C2676676,OMIM:604370 17 43095838 43095838 G C 131441 single nucleotide variant NM_007294.3(BRCA1):c.670+8C>G 80358050 MedGen:C2676676,OMIM:604370 17 41247855 41247855 G C 131443 single nucleotide variant U14680.1:n.790-141C>A -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131444 single nucleotide variant NM_007294.3(BRCA1):c.671-15T>A 80358058 MedGen:C2676676,OMIM:604370 17 41246892 41246892 A T 131444 single nucleotide variant NM_007294.3(BRCA1):c.671-15T>A 80358058 MedGen:C2676676,OMIM:604370 17 43094875 43094875 A T 131445 deletion NM_007294.3(BRCA1):c.671-18_671-16delATT 398122354 MedGen:C2676676,OMIM:604370 17 43094876 43094878 AAT - 131445 deletion NM_007294.3(BRCA1):c.671-18_671-16delATT 398122354 MedGen:C2676676,OMIM:604370 17 41246893 41246895 AAT - 131446 single nucleotide variant NM_007294.3(BRCA1):c.671-1G>T 80358020 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43094861 43094861 C A 131446 single nucleotide variant NM_007294.3(BRCA1):c.671-1G>T 80358020 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41246878 41246878 C A 131448 deletion NM_007294.3(BRCA1):c.671-49delT 273902784 MedGen:C2676676,OMIM:604370 17 43094909 43094909 A - 131448 deletion NM_007294.3(BRCA1):c.671-49delT 273902784 MedGen:C2676676,OMIM:604370 17 41246926 41246926 A - 131450 single nucleotide variant U14680.1:n.790-98A>C -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131452 insertion NM_007294.3(BRCA1):c.807_808ins11 (p.?) 483353107 MedGen:C2676676,OMIM:604370 17 43094723 43094724 na na 131452 insertion NM_007294.3(BRCA1):c.807_808ins11 (p.?) 483353107 MedGen:C2676676,OMIM:604370 17 41246740 41246741 na na 131453 insertion NM_007294.3(BRCA1):c.833_834insA (p.His279Serfs) 483353108 MedGen:C2676676,OMIM:604370 17 43094697 43094698 - T 131453 insertion NM_007294.3(BRCA1):c.833_834insA (p.His279Serfs) 483353108 MedGen:C2676676,OMIM:604370 17 41246714 41246715 - T 131456 insertion NM_007294.3(BRCA1):c.851_852ins7 483353109 MedGen:C2676676,OMIM:604370 17 41246696 41246697 na na 131456 insertion NM_007294.3(BRCA1):c.851_852ins7 483353109 MedGen:C2676676,OMIM:604370 17 43094679 43094680 na na 131457 undetermined variant U14680.1:n.A>G -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 131458 undetermined variant U14680.1:n.G>A -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 132628 duplication NM_007294.3(BRCA1):c.671-248_671-246dupAGG 5820483 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41247123 41247125 CCT CCTCCT 132628 duplication NM_007294.3(BRCA1):c.671-248_671-246dupAGG 5820483 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43095106 43095108 CCT CCTCCT 132629 single nucleotide variant NM_007294.3(BRCA1):c.5074+65G>A 8176235 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41219560 41219560 C T 132629 single nucleotide variant NM_007294.3(BRCA1):c.5074+65G>A 8176235 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43067543 43067543 C T 132630 single nucleotide variant NM_007294.3(BRCA1):c.5074+284C>A 11654396 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41219341 41219341 G T 132630 single nucleotide variant NM_007294.3(BRCA1):c.5074+284C>A 11654396 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43067324 43067324 G T 136452 single nucleotide variant NM_007294.3(BRCA1):c.5152+20T>A 376836050 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41215871 41215871 A T 136452 single nucleotide variant NM_007294.3(BRCA1):c.5152+20T>A 376836050 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43063854 43063854 A T 136525 single nucleotide variant NM_007294.3(BRCA1):c.*1287C>T 12516 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41196408 41196408 G A 136525 single nucleotide variant NM_007294.3(BRCA1):c.*1287C>T 12516 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43044391 43044391 G A 136526 single nucleotide variant NM_007294.3(BRCA1):c.*781C>T 8176319 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41196914 41196914 G A 136526 single nucleotide variant NM_007294.3(BRCA1):c.*781C>T 8176319 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43044897 43044897 G A 137460 single nucleotide variant NM_007294.3(BRCA1):c.290C>T (p.Thr97Ile) 431825393 MedGen:CN169374 17 41256896 41256896 G A 137460 single nucleotide variant NM_007294.3(BRCA1):c.290C>T (p.Thr97Ile) 431825393 MedGen:CN169374 17 43104879 43104879 G A 137461 single nucleotide variant NM_007294.3(BRCA1):c.466C>G (p.Leu156Val) 587778115 MedGen:CN169374 17 41251873 41251873 G C 137461 single nucleotide variant NM_007294.3(BRCA1):c.466C>G (p.Leu156Val) 587778115 MedGen:CN169374 17 43099856 43099856 G C 137462 single nucleotide variant NM_007294.3(BRCA1):c.2330A>G (p.Tyr777Cys) 587778116 MedGen:CN169374 17 41245218 41245218 T C 137462 single nucleotide variant NM_007294.3(BRCA1):c.2330A>G (p.Tyr777Cys) 587778116 MedGen:CN169374 17 43093201 43093201 T C 137463 single nucleotide variant NM_007294.3(BRCA1):c.3277G>T (p.Val1093Phe) 587778117 MedGen:CN169374 17 41244271 41244271 C A 137463 single nucleotide variant NM_007294.3(BRCA1):c.3277G>T (p.Val1093Phe) 587778117 MedGen:CN169374 17 43092254 43092254 C A 137464 single nucleotide variant NM_007294.3(BRCA1):c.787G>A (p.Gly263Ser) 397509318 MedGen:CN169374 17 41246761 41246761 C T 137464 single nucleotide variant NM_007294.3(BRCA1):c.787G>A (p.Gly263Ser) 397509318 MedGen:CN169374 17 43094744 43094744 C T 139790 single nucleotide variant NM_007294.3(BRCA1):c.1196A>G (p.His399Arg) 587780794 MedGen:C0677776,Orphanet:ORPHA145 17 43094335 43094335 T C 139790 single nucleotide variant NM_007294.3(BRCA1):c.1196A>G (p.His399Arg) 587780794 MedGen:C0677776,Orphanet:ORPHA145 17 41246352 41246352 T C 139791 single nucleotide variant NM_007294.3(BRCA1):c.1704T>G (p.Pro568=) 587780795 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245844 41245844 A C 139791 single nucleotide variant NM_007294.3(BRCA1):c.1704T>G (p.Pro568=) 587780795 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093827 43093827 A C 139792 single nucleotide variant NM_007294.3(BRCA1):c.1830G>A (p.Arg610=) 587780796 MedGen:C0677776,Orphanet:ORPHA145 17 41245718 41245718 C T 139792 single nucleotide variant NM_007294.3(BRCA1):c.1830G>A (p.Arg610=) 587780796 MedGen:C0677776,Orphanet:ORPHA145 17 43093701 43093701 C T 139793 single nucleotide variant NM_007294.3(BRCA1):c.212+15A>G 587780797 MedGen:C0677776,Orphanet:ORPHA145 17 41258458 41258458 T C 139793 single nucleotide variant NM_007294.3(BRCA1):c.212+15A>G 587780797 MedGen:C0677776,Orphanet:ORPHA145 17 43106441 43106441 T C 139794 deletion NM_007294.3(BRCA1):c.2506delG (p.Glu836Lysfs) 587780798 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41245042 41245042 C - 139794 deletion NM_007294.3(BRCA1):c.2506delG (p.Glu836Lysfs) 587780798 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43093025 43093025 C - 139795 single nucleotide variant NM_007294.3(BRCA1):c.2943A>T (p.Pro981=) 587780799 MedGen:C0677776,Orphanet:ORPHA145 17 41244605 41244605 T A 139795 single nucleotide variant NM_007294.3(BRCA1):c.2943A>T (p.Pro981=) 587780799 MedGen:C0677776,Orphanet:ORPHA145 17 43092588 43092588 T A 139796 single nucleotide variant NM_007294.3(BRCA1):c.338A>G (p.Asn113Ser) 587780800 MedGen:C0677776,Orphanet:ORPHA145 17 41256242 41256242 T C 139796 single nucleotide variant NM_007294.3(BRCA1):c.338A>G (p.Asn113Ser) 587780800 MedGen:C0677776,Orphanet:ORPHA145 17 43104225 43104225 T C 139797 single nucleotide variant NM_007294.3(BRCA1):c.3747C>T (p.Thr1249=) 587780801 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41243801 41243801 G A 139797 single nucleotide variant NM_007294.3(BRCA1):c.3747C>T (p.Thr1249=) 587780801 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43091784 43091784 G A 139798 deletion NM_007294.3(BRCA1):c.3874delT (p.Ser1292Leufs) 587780802 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41243674 41243674 A - 139798 deletion NM_007294.3(BRCA1):c.3874delT (p.Ser1292Leufs) 587780802 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43091657 43091657 A - 139799 single nucleotide variant NM_007294.3(BRCA1):c.506A>C (p.Gln169Pro) 587780803 MedGen:C0677776,Orphanet:ORPHA145 17 41251833 41251833 T G 139799 single nucleotide variant NM_007294.3(BRCA1):c.506A>C (p.Gln169Pro) 587780803 MedGen:C0677776,Orphanet:ORPHA145 17 43099816 43099816 T G 139800 single nucleotide variant NM_007294.3(BRCA1):c.5074+14C>T 370299792 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41219611 41219611 G A 139800 single nucleotide variant NM_007294.3(BRCA1):c.5074+14C>T 370299792 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43067594 43067594 G A 139801 single nucleotide variant NM_007294.3(BRCA1):c.5157G>A (p.Val1719=) 28897697 MedGen:C0677776,Orphanet:ORPHA145 17 41215386 41215386 C T 139801 single nucleotide variant NM_007294.3(BRCA1):c.5157G>A (p.Val1719=) 28897697 MedGen:C0677776,Orphanet:ORPHA145 17 43063369 43063369 C T 139802 single nucleotide variant NM_007294.3(BRCA1):c.593+15A>G 587780804 MedGen:C0677776,Orphanet:ORPHA145 17 41249246 41249246 T C 139802 single nucleotide variant NM_007294.3(BRCA1):c.593+15A>G 587780804 MedGen:C0677776,Orphanet:ORPHA145 17 43097229 43097229 T C 139803 single nucleotide variant NM_007294.3(BRCA1):c.765G>A (p.Glu255=) 62625299 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246783 41246783 C T 139803 single nucleotide variant NM_007294.3(BRCA1):c.765G>A (p.Glu255=) 62625299 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094766 43094766 C T 139804 single nucleotide variant NM_007294.3(BRCA1):c.81-2A>C 397509326 MedGen:C0677776,Orphanet:ORPHA145 17 41267798 41267798 T G 139804 single nucleotide variant NM_007294.3(BRCA1):c.81-2A>C 397509326 MedGen:C0677776,Orphanet:ORPHA145 17 43115781 43115781 T G 139805 single nucleotide variant NM_007294.3(BRCA1):c.81T>C (p.Cys27=) 587780805 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41267796 41267796 A G 139805 single nucleotide variant NM_007294.3(BRCA1):c.81T>C (p.Cys27=) 587780805 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43115779 43115779 A G 140240 single nucleotide variant NM_007294.3(BRCA1):c.21C>T (p.Arg7=) 149402012 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41276093 41276093 G A 140240 single nucleotide variant NM_007294.3(BRCA1):c.21C>T (p.Arg7=) 149402012 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43124076 43124076 G A 140241 single nucleotide variant NM_007294.3(BRCA1):c.528G>A (p.Thr176=) 34545365 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41251811 41251811 C T 140241 single nucleotide variant NM_007294.3(BRCA1):c.528G>A (p.Thr176=) 34545365 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43099794 43099794 C T 140242 single nucleotide variant NM_007294.3(BRCA1):c.671-8A>G 80358144 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 41246885 41246885 T C 140242 single nucleotide variant NM_007294.3(BRCA1):c.671-8A>G 80358144 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 43094868 43094868 T C 140243 single nucleotide variant NM_007294.3(BRCA1):c.807G>A (p.Leu269=) 149867679 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246741 41246741 C T 140243 single nucleotide variant NM_007294.3(BRCA1):c.807G>A (p.Leu269=) 149867679 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094724 43094724 C T 140244 single nucleotide variant NM_007294.3(BRCA1):c.1392C>T (p.Thr464=) 533802049 MedGen:CN221572;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246156 41246156 G A 140244 single nucleotide variant NM_007294.3(BRCA1):c.1392C>T (p.Thr464=) 533802049 MedGen:CN221572;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094139 43094139 G A 140245 single nucleotide variant NM_007294.3(BRCA1):c.1905T>C (p.Asn635=) 369373293 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245643 41245643 A G 140245 single nucleotide variant NM_007294.3(BRCA1):c.1905T>C (p.Asn635=) 369373293 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093626 43093626 A G 140246 single nucleotide variant NM_007294.3(BRCA1):c.2352G>A (p.Ser784=) 372017932 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245196 41245196 C T 140246 single nucleotide variant NM_007294.3(BRCA1):c.2352G>A (p.Ser784=) 372017932 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093179 43093179 C T 140247 single nucleotide variant NM_007294.3(BRCA1):c.3636A>G (p.Ser1212=) 148038877 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41243912 41243912 T C 140247 single nucleotide variant NM_007294.3(BRCA1):c.3636A>G (p.Ser1212=) 148038877 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43091895 43091895 T C 140248 single nucleotide variant NM_007294.3(BRCA1):c.3702A>G (p.Val1234=) 587780862 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41243846 41243846 T C 140248 single nucleotide variant NM_007294.3(BRCA1):c.3702A>G (p.Val1234=) 587780862 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43091829 43091829 T C 140249 single nucleotide variant NM_007294.3(BRCA1):c.3804T>C (p.Asn1268=) 140588714 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41243744 41243744 A G 140249 single nucleotide variant NM_007294.3(BRCA1):c.3804T>C (p.Asn1268=) 140588714 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43091727 43091727 A G 140250 single nucleotide variant NM_007294.3(BRCA1):c.4113G>A (p.Gly1371=) 147448807 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41243033 41243033 C T 140250 single nucleotide variant NM_007294.3(BRCA1):c.4113G>A (p.Gly1371=) 147448807 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43091016 43091016 C T 140251 single nucleotide variant NM_007294.3(BRCA1):c.4358-2704C>T 562625234 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 41231335 41231335 G A 140251 single nucleotide variant NM_007294.3(BRCA1):c.4358-2704C>T 562625234 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 43079318 43079318 G A 140252 single nucleotide variant NM_007294.3(BRCA1):c.4653T>C (p.Ser1551=) 587780863 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41226370 41226370 A G 140252 single nucleotide variant NM_007294.3(BRCA1):c.4653T>C (p.Ser1551=) 587780863 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43074353 43074353 A G 140253 single nucleotide variant NM_007294.3(BRCA1):c.4767T>G (p.Arg1589=) 587780864 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41223164 41223164 A C 140253 single nucleotide variant NM_007294.3(BRCA1):c.4767T>G (p.Arg1589=) 587780864 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43071147 43071147 A C 140254 single nucleotide variant NM_007294.3(BRCA1):c.4992C>T (p.Leu1664=) 142459158 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43067690 43067690 G A 140254 single nucleotide variant NM_007294.3(BRCA1):c.4992C>T (p.Leu1664=) 142459158 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41219707 41219707 G A 140255 single nucleotide variant NM_007294.3(BRCA1):c.5175A>G (p.Glu1725=) 191373374 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41215368 41215368 T C 140255 single nucleotide variant NM_007294.3(BRCA1):c.5175A>G (p.Glu1725=) 191373374 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43063351 43063351 T C 150134 deletion NM_007294.3(BRCA1):c.5205delA (p.Val1736Serfs) 587781258 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209141 41209141 T - 150134 deletion NM_007294.3(BRCA1):c.5205delA (p.Val1736Serfs) 587781258 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057124 43057124 T - 150558 single nucleotide variant NM_007294.3(BRCA1):c.1705A>G (p.Asn569Asp) 587781315 MedGen:C0027672,SNOMED CT:C0027672 17 41245843 41245843 T C 150558 single nucleotide variant NM_007294.3(BRCA1):c.1705A>G (p.Asn569Asp) 587781315 MedGen:C0027672,SNOMED CT:C0027672 17 43093826 43093826 T C 150704 single nucleotide variant NM_007294.3(BRCA1):c.2119G>C (p.Gly707Arg) 587781420 MedGen:C0027672,SNOMED CT:C0027672 17 43093412 43093412 C G 150704 single nucleotide variant NM_007294.3(BRCA1):c.2119G>C (p.Gly707Arg) 587781420 MedGen:C0027672,SNOMED CT:C0027672 17 41245429 41245429 C G 150707 deletion NM_007294.3(BRCA1):c.2621delA (p.Asn874Ilefs) 587781423 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43092910 43092910 T - 150707 deletion NM_007294.3(BRCA1):c.2621delA (p.Asn874Ilefs) 587781423 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41244927 41244927 T - 150712 duplication NM_007294.3(BRCA1):c.485dupT (p.Arg163Glufs) 587781427 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43099837 43099837 A AA 150712 duplication NM_007294.3(BRCA1):c.485dupT (p.Arg163Glufs) 587781427 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41251854 41251854 A AA 150748 single nucleotide variant NM_007294.3(BRCA1):c.2068A>G (p.Lys690Glu) 587781448 MedGen:C0027672,SNOMED CT:C0027672 17 43093463 43093463 T C 150748 single nucleotide variant NM_007294.3(BRCA1):c.2068A>G (p.Lys690Glu) 587781448 MedGen:C0027672,SNOMED CT:C0027672 17 41245480 41245480 T C 150785 single nucleotide variant NM_007294.3(BRCA1):c.5002T>A (p.Phe1668Ile) 587781472 MedGen:C0027672,SNOMED CT:C0027672 17 43067680 43067680 A T 150785 single nucleotide variant NM_007294.3(BRCA1):c.5002T>A (p.Phe1668Ile) 587781472 MedGen:C0027672,SNOMED CT:C0027672 17 41219697 41219697 A T 150790 single nucleotide variant NM_007294.3(BRCA1):c.5014C>T (p.His1672Tyr) 587781477 MedGen:C0027672,SNOMED CT:C0027672 17 43067668 43067668 G A 150790 single nucleotide variant NM_007294.3(BRCA1):c.5014C>T (p.His1672Tyr) 587781477 MedGen:C0027672,SNOMED CT:C0027672 17 41219685 41219685 G A 150791 single nucleotide variant NM_007294.3(BRCA1):c.5089T>A (p.Cys1697Ser) 80356993 MedGen:C0027672,SNOMED CT:C0027672 17 43063937 43063937 A T 150791 single nucleotide variant NM_007294.3(BRCA1):c.5089T>A (p.Cys1697Ser) 80356993 MedGen:C0027672,SNOMED CT:C0027672 17 41215954 41215954 A T 150805 duplication NM_007294.3(BRCA1):c.512dupT (p.Gln172Thrfs) 587781487 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43099810 43099810 A AA 150805 duplication NM_007294.3(BRCA1):c.512dupT (p.Gln172Thrfs) 587781487 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41251827 41251827 A AA 150807 single nucleotide variant NM_007294.3(BRCA1):c.179A>G (p.Gln60Arg) 373655067 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43106489 43106489 T C 150807 single nucleotide variant NM_007294.3(BRCA1):c.179A>G (p.Gln60Arg) 373655067 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41258506 41258506 T C 150810 single nucleotide variant NM_007294.3(BRCA1):c.359A>G (p.Asp120Gly) 587781491 MedGen:C0027672,SNOMED CT:C0027672 17 41256221 41256221 T C 150810 single nucleotide variant NM_007294.3(BRCA1):c.359A>G (p.Asp120Gly) 587781491 MedGen:C0027672,SNOMED CT:C0027672 17 43104204 43104204 T C 150811 single nucleotide variant NM_007294.3(BRCA1):c.2750T>C (p.Ile917Thr) 587781492 MedGen:C0027672,SNOMED CT:C0027672 17 41244798 41244798 A G 150811 single nucleotide variant NM_007294.3(BRCA1):c.2750T>C (p.Ile917Thr) 587781492 MedGen:C0027672,SNOMED CT:C0027672 17 43092781 43092781 A G 150817 single nucleotide variant NM_007294.3(BRCA1):c.799T>C (p.Ser267Pro) 587781496 MedGen:C0027672,SNOMED CT:C0027672 17 41246749 41246749 A G 150817 single nucleotide variant NM_007294.3(BRCA1):c.799T>C (p.Ser267Pro) 587781496 MedGen:C0027672,SNOMED CT:C0027672 17 43094732 43094732 A G 150856 indel NM_007294.3(BRCA1):c.5153-16_5156del20insAATA 587781526 MedGen:C0027672,SNOMED CT:C0027672 17 41215387 41215406 na TATT 150856 indel NM_007294.3(BRCA1):c.5153-16_5156del20insAATA 587781526 MedGen:C0027672,SNOMED CT:C0027672 17 43063370 43063389 na TATT 150908 single nucleotide variant NM_007294.3(BRCA1):c.-1A>C 587781565 MedGen:C0027672,SNOMED CT:C0027672 17 41276114 41276114 T G 150908 single nucleotide variant NM_007294.3(BRCA1):c.-1A>C 587781565 MedGen:C0027672,SNOMED CT:C0027672 17 43124097 43124097 T G 150937 single nucleotide variant NM_007294.3(BRCA1):c.3167C>G (p.Ser1056Cys) 587781588 MedGen:C0027672,SNOMED CT:C0027672 17 41244381 41244381 G C 150937 single nucleotide variant NM_007294.3(BRCA1):c.3167C>G (p.Ser1056Cys) 587781588 MedGen:C0027672,SNOMED CT:C0027672 17 43092364 43092364 G C 150974 deletion NM_007294.3(BRCA1):c.4401delG (p.Asn1468Ilefs) 587781611 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41228588 41228588 C - 150974 deletion NM_007294.3(BRCA1):c.4401delG (p.Asn1468Ilefs) 587781611 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43076571 43076571 C - 150976 single nucleotide variant NM_007294.3(BRCA1):c.1813G>T (p.Ala605Ser) 587781613 MedGen:C0027672,SNOMED CT:C0027672 17 41245735 41245735 C A 150976 single nucleotide variant NM_007294.3(BRCA1):c.1813G>T (p.Ala605Ser) 587781613 MedGen:C0027672,SNOMED CT:C0027672 17 43093718 43093718 C A 150977 deletion NM_007294.3(BRCA1):c.1824_1826delGAA (p.Lys608del) 587781614 MedGen:CN221572;MedGen:C0027672,SNOMED CT:C0027672 17 41245722 41245724 TTC - 150977 deletion NM_007294.3(BRCA1):c.1824_1826delGAA (p.Lys608del) 587781614 MedGen:CN221572;MedGen:C0027672,SNOMED CT:C0027672 17 43093705 43093707 TTC - 150986 single nucleotide variant NM_007294.3(BRCA1):c.4790C>A (p.Thr1597Asn) 587781623 MedGen:C0027672,SNOMED CT:C0027672 17 41223141 41223141 G T 150986 single nucleotide variant NM_007294.3(BRCA1):c.4790C>A (p.Thr1597Asn) 587781623 MedGen:C0027672,SNOMED CT:C0027672 17 43071124 43071124 G T 151000 single nucleotide variant NM_007294.3(BRCA1):c.192T>A (p.Cys64Ter) 587781632 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41258493 41258493 A T 151000 single nucleotide variant NM_007294.3(BRCA1):c.192T>A (p.Cys64Ter) 587781632 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43106476 43106476 A T 151015 single nucleotide variant NM_007294.3(BRCA1):c.2905A>G (p.Asn969Asp) 587781641 MedGen:C0027672,SNOMED CT:C0027672 17 41244643 41244643 T C 151015 single nucleotide variant NM_007294.3(BRCA1):c.2905A>G (p.Asn969Asp) 587781641 MedGen:C0027672,SNOMED CT:C0027672 17 43092626 43092626 T C 151017 single nucleotide variant NM_007294.3(BRCA1):c.231G>C (p.Thr77=) 80356847 MedGen:C0027672,SNOMED CT:C0027672 17 41256955 41256955 C G 151017 single nucleotide variant NM_007294.3(BRCA1):c.231G>C (p.Thr77=) 80356847 MedGen:C0027672,SNOMED CT:C0027672 17 43104938 43104938 C G 151047 single nucleotide variant NM_007294.3(BRCA1):c.4858A>G (p.Thr1620Ala) 8176219 MedGen:C0027672,SNOMED CT:C0027672 17 41223073 41223073 T C 151047 single nucleotide variant NM_007294.3(BRCA1):c.4858A>G (p.Thr1620Ala) 8176219 MedGen:C0027672,SNOMED CT:C0027672 17 43071056 43071056 T C 151071 single nucleotide variant NM_007294.3(BRCA1):c.2252T>C (p.Met751Thr) 587781684 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41245296 41245296 A G 151071 single nucleotide variant NM_007294.3(BRCA1):c.2252T>C (p.Met751Thr) 587781684 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43093279 43093279 A G 151106 single nucleotide variant NM_007294.3(BRCA1):c.1336A>G (p.Arg446Gly) 587781715 MedGen:C0027672,SNOMED CT:C0027672 17 41246212 41246212 T C 151106 single nucleotide variant NM_007294.3(BRCA1):c.1336A>G (p.Arg446Gly) 587781715 MedGen:C0027672,SNOMED CT:C0027672 17 43094195 43094195 T C 151142 single nucleotide variant NM_007294.3(BRCA1):c.1016A>C (p.Lys339Thr) 587781737 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246532 41246532 T G 151142 single nucleotide variant NM_007294.3(BRCA1):c.1016A>C (p.Lys339Thr) 587781737 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094515 43094515 T G 151172 single nucleotide variant NM_007294.3(BRCA1):c.535T>C (p.Tyr179His) 587781761 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41251804 41251804 A G 151172 single nucleotide variant NM_007294.3(BRCA1):c.535T>C (p.Tyr179His) 587781761 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43099787 43099787 A G 151176 single nucleotide variant NM_007294.3(BRCA1):c.3415A>C (p.Ser1139Arg) 587781765 MedGen:C0027672,SNOMED CT:C0027672 17 41244133 41244133 T G 151176 single nucleotide variant NM_007294.3(BRCA1):c.3415A>C (p.Ser1139Arg) 587781765 MedGen:C0027672,SNOMED CT:C0027672 17 43092116 43092116 T G 151179 single nucleotide variant NM_007294.3(BRCA1):c.4231A>G (p.Met1411Val) 587781768 MedGen:C0027672,SNOMED CT:C0027672 17 41234547 41234547 T C 151179 single nucleotide variant NM_007294.3(BRCA1):c.4231A>G (p.Met1411Val) 587781768 MedGen:C0027672,SNOMED CT:C0027672 17 43082530 43082530 T C 151180 single nucleotide variant NM_007294.3(BRCA1):c.1097A>T (p.Asp366Val) 587781769 MedGen:C0027672,SNOMED CT:C0027672 17 41246451 41246451 T A 151180 single nucleotide variant NM_007294.3(BRCA1):c.1097A>T (p.Asp366Val) 587781769 MedGen:C0027672,SNOMED CT:C0027672 17 43094434 43094434 T A 151181 single nucleotide variant NM_007294.3(BRCA1):c.5321A>G (p.Asn1774Ser) 587781770 MedGen:C0027672,SNOMED CT:C0027672 17 41203091 41203091 T C 151181 single nucleotide variant NM_007294.3(BRCA1):c.5321A>G (p.Asn1774Ser) 587781770 MedGen:C0027672,SNOMED CT:C0027672 17 43051074 43051074 T C 151182 single nucleotide variant NM_007294.3(BRCA1):c.2679G>T (p.Lys893Asn) 587781771 MedGen:C0027672,SNOMED CT:C0027672 17 41244869 41244869 C A 151182 single nucleotide variant NM_007294.3(BRCA1):c.2679G>T (p.Lys893Asn) 587781771 MedGen:C0027672,SNOMED CT:C0027672 17 43092852 43092852 C A 151193 deletion NM_007294.3(BRCA1):c.3664_3666delGAG (p.Glu1222del) 587781779 MedGen:C0027672,SNOMED CT:C0027672 17 41243882 41243884 CTC - 151193 deletion NM_007294.3(BRCA1):c.3664_3666delGAG (p.Glu1222del) 587781779 MedGen:C0027672,SNOMED CT:C0027672 17 43091865 43091867 CTC - 151195 single nucleotide variant NM_007294.3(BRCA1):c.2203C>G (p.Leu735Val) 587781781 MedGen:C0027672,SNOMED CT:C0027672 17 41245345 41245345 G C 151195 single nucleotide variant NM_007294.3(BRCA1):c.2203C>G (p.Leu735Val) 587781781 MedGen:C0027672,SNOMED CT:C0027672 17 43093328 43093328 G C 151218 single nucleotide variant NM_007294.3(BRCA1):c.302A>G (p.Tyr101Cys) 587781798 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41256278 41256278 T C 151218 single nucleotide variant NM_007294.3(BRCA1):c.302A>G (p.Tyr101Cys) 587781798 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43104261 43104261 T C 151250 deletion NM_007294.3(BRCA1):c.5310_5311delGC (p.Pro1771Leufs) 587781825 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41203101 41203102 GC - 151250 deletion NM_007294.3(BRCA1):c.5310_5311delGC (p.Pro1771Leufs) 587781825 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43051084 43051085 GC - 151254 single nucleotide variant NM_007294.3(BRCA1):c.3797G>T (p.Ser1266Ile) 80357160 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43091734 43091734 C A 151254 single nucleotide variant NM_007294.3(BRCA1):c.3797G>T (p.Ser1266Ile) 80357160 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41243751 41243751 C A 151263 single nucleotide variant NM_007294.3(BRCA1):c.766A>T (p.Arg256Trp) 587781833 MedGen:C0027672,SNOMED CT:C0027672 17 43094765 43094765 T A 151263 single nucleotide variant NM_007294.3(BRCA1):c.766A>T (p.Arg256Trp) 587781833 MedGen:C0027672,SNOMED CT:C0027672 17 41246782 41246782 T A 151324 single nucleotide variant NM_007294.3(BRCA1):c.4677G>C (p.Glu1559Asp) 587781876 MedGen:C0027672,SNOMED CT:C0027672 17 43071237 43071237 C G 151324 single nucleotide variant NM_007294.3(BRCA1):c.4677G>C (p.Glu1559Asp) 587781876 MedGen:C0027672,SNOMED CT:C0027672 17 41223254 41223254 C G 151329 single nucleotide variant NM_007294.3(BRCA1):c.4466A>G (p.Lys1489Arg) 587781880 MedGen:C0027672,SNOMED CT:C0027672 17 43076506 43076506 T C 151329 single nucleotide variant NM_007294.3(BRCA1):c.4466A>G (p.Lys1489Arg) 587781880 MedGen:C0027672,SNOMED CT:C0027672 17 41228523 41228523 T C 151370 single nucleotide variant NM_007294.3(BRCA1):c.2684A>G (p.Gln895Arg) 587781914 MedGen:C0027672,SNOMED CT:C0027672 17 43092847 43092847 T C 151370 single nucleotide variant NM_007294.3(BRCA1):c.2684A>G (p.Gln895Arg) 587781914 MedGen:C0027672,SNOMED CT:C0027672 17 41244864 41244864 T C 151372 single nucleotide variant NM_007294.3(BRCA1):c.135-5T>C 587781916 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43106538 43106538 A G 151372 single nucleotide variant NM_007294.3(BRCA1):c.135-5T>C 587781916 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41258555 41258555 A G 151455 single nucleotide variant NM_007294.3(BRCA1):c.1534C>G (p.Leu512Val) 41286294 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41246014 41246014 G C 151455 single nucleotide variant NM_007294.3(BRCA1):c.1534C>G (p.Leu512Val) 41286294 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093997 43093997 G C 151500 single nucleotide variant NM_007294.3(BRCA1):c.3750G>C (p.Glu1250Asp) 145903082 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41243798 41243798 C G 151500 single nucleotide variant NM_007294.3(BRCA1):c.3750G>C (p.Glu1250Asp) 145903082 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43091781 43091781 C G 151503 single nucleotide variant NM_007294.3(BRCA1):c.4780C>G (p.Pro1594Ala) 587782012 MedGen:C0027672,SNOMED CT:C0027672 17 41223151 41223151 G C 151503 single nucleotide variant NM_007294.3(BRCA1):c.4780C>G (p.Pro1594Ala) 587782012 MedGen:C0027672,SNOMED CT:C0027672 17 43071134 43071134 G C 151508 single nucleotide variant NM_007294.3(BRCA1):c.334A>G (p.Asn112Asp) 587782017 MedGen:C0027672,SNOMED CT:C0027672 17 41256246 41256246 T C 151508 single nucleotide variant NM_007294.3(BRCA1):c.334A>G (p.Asn112Asp) 587782017 MedGen:C0027672,SNOMED CT:C0027672 17 43104229 43104229 T C 151510 single nucleotide variant NM_007294.3(BRCA1):c.5349G>A (p.Met1783Ile) 587782019 MedGen:C0027672,SNOMED CT:C0027672 17 41201195 41201195 C T 151510 single nucleotide variant NM_007294.3(BRCA1):c.5349G>A (p.Met1783Ile) 587782019 MedGen:C0027672,SNOMED CT:C0027672 17 43049178 43049178 C T 151518 single nucleotide variant NM_007294.3(BRCA1):c.5470A>G (p.Ile1824Val) 587782026 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41197817 41197817 T C 151518 single nucleotide variant NM_007294.3(BRCA1):c.5470A>G (p.Ile1824Val) 587782026 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43045800 43045800 T C 151520 single nucleotide variant NM_007294.3(BRCA1):c.2396A>G (p.Asn799Ser) 587782027 MedGen:C0027672,SNOMED CT:C0027672 17 41245152 41245152 T C 151520 single nucleotide variant NM_007294.3(BRCA1):c.2396A>G (p.Asn799Ser) 587782027 MedGen:C0027672,SNOMED CT:C0027672 17 43093135 43093135 T C 151522 single nucleotide variant NM_007294.3(BRCA1):c.2710G>C (p.Glu904Gln) 80357035 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41244838 41244838 C G 151522 single nucleotide variant NM_007294.3(BRCA1):c.2710G>C (p.Glu904Gln) 80357035 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43092821 43092821 C G 151614 single nucleotide variant NM_007294.3(BRCA1):c.713A>G (p.His238Arg) 587782094 MedGen:C0027672,SNOMED CT:C0027672 17 41246835 41246835 T C 151614 single nucleotide variant NM_007294.3(BRCA1):c.713A>G (p.His238Arg) 587782094 MedGen:C0027672,SNOMED CT:C0027672 17 43094818 43094818 T C 151617 single nucleotide variant NM_007294.3(BRCA1):c.*1C>T 587782097 MedGen:C0027672,SNOMED CT:C0027672 17 41197694 41197694 G A 151617 single nucleotide variant NM_007294.3(BRCA1):c.*1C>T 587782097 MedGen:C0027672,SNOMED CT:C0027672 17 43045677 43045677 G A 151652 single nucleotide variant NM_007294.3(BRCA1):c.727A>G (p.Asn243Asp) 587782123 MedGen:C0027672,SNOMED CT:C0027672 17 41246821 41246821 T C 151652 single nucleotide variant NM_007294.3(BRCA1):c.727A>G (p.Asn243Asp) 587782123 MedGen:C0027672,SNOMED CT:C0027672 17 43094804 43094804 T C 151664 single nucleotide variant NM_007294.3(BRCA1):c.2657C>G (p.Ser886Cys) 587782134 MedGen:C0027672,SNOMED CT:C0027672 17 41244891 41244891 G C 151664 single nucleotide variant NM_007294.3(BRCA1):c.2657C>G (p.Ser886Cys) 587782134 MedGen:C0027672,SNOMED CT:C0027672 17 43092874 43092874 G C 151674 duplication NM_007294.3(BRCA1):c.4655dupA (p.Tyr1552Terfs) 587782143 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41226368 41226368 T TT 151674 duplication NM_007294.3(BRCA1):c.4655dupA (p.Tyr1552Terfs) 587782143 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43074351 43074351 T TT 151716 single nucleotide variant NM_007294.3(BRCA1):c.5371G>T (p.Val1791Leu) 145758886 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41201173 41201173 C A 151716 single nucleotide variant NM_007294.3(BRCA1):c.5371G>T (p.Val1791Leu) 145758886 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43049156 43049156 C A 151718 single nucleotide variant NM_007294.3(BRCA1):c.301+1G>A 587782173 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41256884 41256884 C T 151718 single nucleotide variant NM_007294.3(BRCA1):c.301+1G>A 587782173 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43104867 43104867 C T 151742 single nucleotide variant NM_007294.3(BRCA1):c.3535A>C (p.Lys1179Gln) 587782188 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43091996 43091996 T G 151742 single nucleotide variant NM_007294.3(BRCA1):c.3535A>C (p.Lys1179Gln) 587782188 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41244013 41244013 T G 151745 single nucleotide variant NM_007294.3(BRCA1):c.3800T>C (p.Leu1267Ser) 587782190 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41243748 41243748 A G 151745 single nucleotide variant NM_007294.3(BRCA1):c.3800T>C (p.Leu1267Ser) 587782190 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43091731 43091731 A G 151823 single nucleotide variant NM_007294.3(BRCA1):c.3970A>T (p.Met1324Leu) 587782241 MedGen:C0027672,SNOMED CT:C0027672 17 41243578 41243578 T A 151823 single nucleotide variant NM_007294.3(BRCA1):c.3970A>T (p.Met1324Leu) 587782241 MedGen:C0027672,SNOMED CT:C0027672 17 43091561 43091561 T A 151836 deletion NM_007294.3(BRCA1):c.1488delT (p.Leu498Serfs) 587782251 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41246060 41246060 A - 151836 deletion NM_007294.3(BRCA1):c.1488delT (p.Leu498Serfs) 587782251 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43094043 43094043 A - 151970 single nucleotide variant NM_007294.3(BRCA1):c.5498T>C (p.Val1833Ala) 587782340 MedGen:C0027672,SNOMED CT:C0027672 17 41197789 41197789 A G 151970 single nucleotide variant NM_007294.3(BRCA1):c.5498T>C (p.Val1833Ala) 587782340 MedGen:C0027672,SNOMED CT:C0027672 17 43045772 43045772 A G 151972 single nucleotide variant NM_007294.3(BRCA1):c.3584A>G (p.His1195Arg) 28897685 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41243964 41243964 T C 151972 single nucleotide variant NM_007294.3(BRCA1):c.3584A>G (p.His1195Arg) 28897685 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43091947 43091947 T C 152011 single nucleotide variant NM_007294.3(BRCA1):c.670+16G>A 199916228 MedGen:C0027672,SNOMED CT:C0027672 17 43095830 43095830 C T 152011 single nucleotide variant NM_007294.3(BRCA1):c.670+16G>A 199916228 MedGen:C0027672,SNOMED CT:C0027672 17 41247847 41247847 C T 152015 single nucleotide variant NM_007294.3(BRCA1):c.4735C>G (p.Pro1579Ala) 145466894 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43071179 43071179 G C 152015 single nucleotide variant NM_007294.3(BRCA1):c.4735C>G (p.Pro1579Ala) 145466894 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41223196 41223196 G C 152017 single nucleotide variant NM_007294.3(BRCA1):c.2638G>C (p.Glu880Gln) 587782370 MedGen:C0027672,SNOMED CT:C0027672 17 43092893 43092893 C G 152017 single nucleotide variant NM_007294.3(BRCA1):c.2638G>C (p.Glu880Gln) 587782370 MedGen:C0027672,SNOMED CT:C0027672 17 41244910 41244910 C G 152026 single nucleotide variant NM_007294.3(BRCA1):c.4934G>C (p.Arg1645Thr) 70953661 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43070980 43070980 C G 152026 single nucleotide variant NM_007294.3(BRCA1):c.4934G>C (p.Arg1645Thr) 70953661 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41222997 41222997 C G 152045 single nucleotide variant NM_007294.3(BRCA1):c.1636A>G (p.Met546Val) 587782390 MedGen:C0027672,SNOMED CT:C0027672 17 43093895 43093895 T C 152045 single nucleotide variant NM_007294.3(BRCA1):c.1636A>G (p.Met546Val) 587782390 MedGen:C0027672,SNOMED CT:C0027672 17 41245912 41245912 T C 152048 duplication NM_007294.3(BRCA1):c.4799dupT (p.Leu1600Phefs) 587782392 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41223132 41223132 A AA 152048 duplication NM_007294.3(BRCA1):c.4799dupT (p.Leu1600Phefs) 587782392 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43071115 43071115 A AA 152109 single nucleotide variant NM_007294.3(BRCA1):c.5481G>A (p.Met1827Ile) 587782432 MedGen:C0027672,SNOMED CT:C0027672 17 41197806 41197806 C T 152109 single nucleotide variant NM_007294.3(BRCA1):c.5481G>A (p.Met1827Ile) 587782432 MedGen:C0027672,SNOMED CT:C0027672 17 43045789 43045789 C T 152138 single nucleotide variant NM_007294.3(BRCA1):c.5147A>G (p.Tyr1716Cys) 587782456 MedGen:C0027672,SNOMED CT:C0027672 17 43063879 43063879 T C 152138 single nucleotide variant NM_007294.3(BRCA1):c.5147A>G (p.Tyr1716Cys) 587782456 MedGen:C0027672,SNOMED CT:C0027672 17 41215896 41215896 T C 152142 single nucleotide variant NM_007294.3(BRCA1):c.3596C>T (p.Ala1199Val) 587782458 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43091935 43091935 G A 152142 single nucleotide variant NM_007294.3(BRCA1):c.3596C>T (p.Ala1199Val) 587782458 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41243952 41243952 G A 152317 deletion NM_007294.3(BRCA1):c.5193+3_5193+15del13 273901752 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41215335 41215347 ACATCAAGTACTT - 152317 deletion NM_007294.3(BRCA1):c.5193+3_5193+15del13 273901752 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43063318 43063330 ACATCAAGTACTT - 152325 single nucleotide variant NM_007294.3(BRCA1):c.231G>A (p.Thr77=) 80356847 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41256955 41256955 C T 152325 single nucleotide variant NM_007294.3(BRCA1):c.231G>A (p.Thr77=) 80356847 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43104938 43104938 C T 152336 single nucleotide variant NM_007294.3(BRCA1):c.2076T>A (p.His692Gln) 587782595 MedGen:C0027672,SNOMED CT:C0027672 17 43093455 43093455 A T 152336 single nucleotide variant NM_007294.3(BRCA1):c.2076T>A (p.His692Gln) 587782595 MedGen:C0027672,SNOMED CT:C0027672 17 41245472 41245472 A T 152341 single nucleotide variant NM_007294.3(BRCA1):c.4679G>T (p.Gly1560Val) 564757581 MedGen:C0027672,SNOMED CT:C0027672 17 43071235 43071235 C A 152341 single nucleotide variant NM_007294.3(BRCA1):c.4679G>T (p.Gly1560Val) 564757581 MedGen:C0027672,SNOMED CT:C0027672 17 41223252 41223252 C A 152342 single nucleotide variant NM_007294.3(BRCA1):c.889A>G (p.Met297Val) 80357196 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43094642 43094642 T C 152342 single nucleotide variant NM_007294.3(BRCA1):c.889A>G (p.Met297Val) 80357196 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41246659 41246659 T C 152353 single nucleotide variant NM_007294.3(BRCA1):c.4361T>C (p.Val1454Ala) 587782606 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43076611 43076611 A G 152353 single nucleotide variant NM_007294.3(BRCA1):c.4361T>C (p.Val1454Ala) 587782606 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41228628 41228628 A G 152356 single nucleotide variant NM_007294.3(BRCA1):c.2613G>A (p.Pro871=) 587782608 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092918 43092918 C T 152356 single nucleotide variant NM_007294.3(BRCA1):c.2613G>A (p.Pro871=) 587782608 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244935 41244935 C T 152369 single nucleotide variant NM_007294.3(BRCA1):c.380G>T (p.Ser127Ile) 80357189 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43104183 43104183 C A 152369 single nucleotide variant NM_007294.3(BRCA1):c.380G>T (p.Ser127Ile) 80357189 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41256200 41256200 C A 152380 single nucleotide variant NM_007294.3(BRCA1):c.2593A>T (p.Lys865Ter) 587782628 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43092938 43092938 T A 152380 single nucleotide variant NM_007294.3(BRCA1):c.2593A>T (p.Lys865Ter) 587782628 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41244955 41244955 T A 152382 single nucleotide variant NM_007294.3(BRCA1):c.3127A>G (p.Asn1043Asp) 587782630 MedGen:C0027672,SNOMED CT:C0027672 17 43092404 43092404 T C 152382 single nucleotide variant NM_007294.3(BRCA1):c.3127A>G (p.Asn1043Asp) 587782630 MedGen:C0027672,SNOMED CT:C0027672 17 41244421 41244421 T C 152387 single nucleotide variant NM_007294.3(BRCA1):c.3956G>A (p.Gly1319Asp) 587782634 MedGen:C0027672,SNOMED CT:C0027672 17 43091575 43091575 C T 152387 single nucleotide variant NM_007294.3(BRCA1):c.3956G>A (p.Gly1319Asp) 587782634 MedGen:C0027672,SNOMED CT:C0027672 17 41243592 41243592 C T 152407 single nucleotide variant NM_007294.3(BRCA1):c.212+10T>C 80358174 MedGen:C0027672,SNOMED CT:C0027672 17 43106446 43106446 A G 152407 single nucleotide variant NM_007294.3(BRCA1):c.212+10T>C 80358174 MedGen:C0027672,SNOMED CT:C0027672 17 41258463 41258463 A G 152426 deletion NM_007294.3(BRCA1):c.442-18_442-4del15 587782663 MedGen:C0027672,SNOMED CT:C0027672 17 43099884 43099898 AACAGTATGGTAAAG - 152426 deletion NM_007294.3(BRCA1):c.442-18_442-4del15 587782663 MedGen:C0027672,SNOMED CT:C0027672 17 41251901 41251915 AACAGTATGGTAAAG - 152430 deletion NM_007294.3(BRCA1):c.335_338delATAA (p.Asn112Thrfs) 587782666 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43104225 43104228 TTAT - 152430 deletion NM_007294.3(BRCA1):c.335_338delATAA (p.Asn112Thrfs) 587782666 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41256242 41256245 TTAT - 152488 single nucleotide variant NM_007294.3(BRCA1):c.4412G>C (p.Gly1471Ala) 587782708 MedGen:C0027672,SNOMED CT:C0027672 17 43076560 43076560 C G 152488 single nucleotide variant NM_007294.3(BRCA1):c.4412G>C (p.Gly1471Ala) 587782708 MedGen:C0027672,SNOMED CT:C0027672 17 41228577 41228577 C G 152489 single nucleotide variant NM_007294.3(BRCA1):c.3022A>C (p.Met1008Leu) 56321129 MedGen:C0027672,SNOMED CT:C0027672 17 43092509 43092509 T G 152489 single nucleotide variant NM_007294.3(BRCA1):c.3022A>C (p.Met1008Leu) 56321129 MedGen:C0027672,SNOMED CT:C0027672 17 41244526 41244526 T G 152490 single nucleotide variant NM_007294.3(BRCA1):c.2056G>T (p.Glu686Ter) 587782709 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43093475 43093475 C A 152490 single nucleotide variant NM_007294.3(BRCA1):c.2056G>T (p.Glu686Ter) 587782709 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41245492 41245492 C A 152504 single nucleotide variant NM_007294.3(BRCA1):c.3962C>A (p.Ser1321Tyr) 386833394 MedGen:C0027672,SNOMED CT:C0027672 17 43091569 43091569 G T 152504 single nucleotide variant NM_007294.3(BRCA1):c.3962C>A (p.Ser1321Tyr) 386833394 MedGen:C0027672,SNOMED CT:C0027672 17 41243586 41243586 G T 152507 single nucleotide variant NM_007294.3(BRCA1):c.2915G>A (p.Gly972Glu) 587782721 MedGen:C0027672,SNOMED CT:C0027672 17 43092616 43092616 C T 152507 single nucleotide variant NM_007294.3(BRCA1):c.2915G>A (p.Gly972Glu) 587782721 MedGen:C0027672,SNOMED CT:C0027672 17 41244633 41244633 C T 152510 single nucleotide variant NM_007294.3(BRCA1):c.412C>G (p.Leu138Val) 587782724 MedGen:C0027672,SNOMED CT:C0027672 17 43104151 43104151 G C 152510 single nucleotide variant NM_007294.3(BRCA1):c.412C>G (p.Leu138Val) 587782724 MedGen:C0027672,SNOMED CT:C0027672 17 41256168 41256168 G C 152529 deletion NM_007294.3(BRCA1):c.1931_1933delGTT (p.Cys644del) 587782739 MedGen:C0027672,SNOMED CT:C0027672 17 43093598 43093600 AAC - 152529 deletion NM_007294.3(BRCA1):c.1931_1933delGTT (p.Cys644del) 587782739 MedGen:C0027672,SNOMED CT:C0027672 17 41245615 41245617 AAC - 152533 single nucleotide variant NM_007294.3(BRCA1):c.2877A>C (p.Arg959Ser) 587782743 MedGen:C0027672,SNOMED CT:C0027672 17 43092654 43092654 T G 152533 single nucleotide variant NM_007294.3(BRCA1):c.2877A>C (p.Arg959Ser) 587782743 MedGen:C0027672,SNOMED CT:C0027672 17 41244671 41244671 T G 152537 single nucleotide variant NM_007294.3(BRCA1):c.527C>G (p.Thr176Arg) 587782747 MedGen:C0027672,SNOMED CT:C0027672 17 43099795 43099795 G C 152537 single nucleotide variant NM_007294.3(BRCA1):c.527C>G (p.Thr176Arg) 587782747 MedGen:C0027672,SNOMED CT:C0027672 17 41251812 41251812 G C 152539 indel NM_007294.3(BRCA1):c.238_239delAGins22 (p.?) 587782749 MedGen:C0027672,SNOMED CT:C0027672 17 43104930 43104931 na na 152539 indel NM_007294.3(BRCA1):c.238_239delAGins22 (p.?) 587782749 MedGen:C0027672,SNOMED CT:C0027672 17 41256947 41256948 na na 152544 single nucleotide variant NM_007294.3(BRCA1):c.3449C>T (p.Pro1150Leu) 587782752 MedGen:C0027672,SNOMED CT:C0027672 17 43092082 43092082 G A 152544 single nucleotide variant NM_007294.3(BRCA1):c.3449C>T (p.Pro1150Leu) 587782752 MedGen:C0027672,SNOMED CT:C0027672 17 41244099 41244099 G A 152548 single nucleotide variant NM_007294.3(BRCA1):c.5402G>A (p.Gly1801Asp) 531210457 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43049125 43049125 C T 152548 single nucleotide variant NM_007294.3(BRCA1):c.5402G>A (p.Gly1801Asp) 531210457 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41201142 41201142 C T 152550 single nucleotide variant NM_007294.3(BRCA1):c.4389C>G (p.Tyr1463Ter) 80356997 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43076583 43076583 G C 152550 single nucleotide variant NM_007294.3(BRCA1):c.4389C>G (p.Tyr1463Ter) 80356997 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41228600 41228600 G C 152569 single nucleotide variant NM_007294.3(BRCA1):c.1243G>A (p.Val415Ile) 587782770 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43094288 43094288 C T 152569 single nucleotide variant NM_007294.3(BRCA1):c.1243G>A (p.Val415Ile) 587782770 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41246305 41246305 C T 152579 single nucleotide variant NM_007294.3(BRCA1):c.5492C>G (p.Pro1831Arg) 587782778 MedGen:C0027672,SNOMED CT:C0027672 17 43045778 43045778 G C 152579 single nucleotide variant NM_007294.3(BRCA1):c.5492C>G (p.Pro1831Arg) 587782778 MedGen:C0027672,SNOMED CT:C0027672 17 41197795 41197795 G C 152581 single nucleotide variant NM_007294.3(BRCA1):c.733G>T (p.Asp245Tyr) 147519994 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43094798 43094798 C A 152581 single nucleotide variant NM_007294.3(BRCA1):c.733G>T (p.Asp245Tyr) 147519994 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41246815 41246815 C A 152587 single nucleotide variant NM_007294.3(BRCA1):c.1339G>A (p.Val447Ile) 587782784 MedGen:C0027672,SNOMED CT:C0027672 17 43094192 43094192 C T 152587 single nucleotide variant NM_007294.3(BRCA1):c.1339G>A (p.Val447Ile) 587782784 MedGen:C0027672,SNOMED CT:C0027672 17 41246209 41246209 C T 152594 single nucleotide variant NM_007294.3(BRCA1):c.1078T>C (p.Cys360Arg) 587782790 MedGen:C0027672,SNOMED CT:C0027672 17 43094453 43094453 A G 152594 single nucleotide variant NM_007294.3(BRCA1):c.1078T>C (p.Cys360Arg) 587782790 MedGen:C0027672,SNOMED CT:C0027672 17 41246470 41246470 A G 152636 duplication NM_007294.3(BRCA1):c.3344_3346dupAAG (p.Glu1115_Val1116insGlu) 587782821 MedGen:C0027672,SNOMED CT:C0027672 17 43092185 43092187 CTT CTTCTT 152636 duplication NM_007294.3(BRCA1):c.3344_3346dupAAG (p.Glu1115_Val1116insGlu) 587782821 MedGen:C0027672,SNOMED CT:C0027672 17 41244202 41244204 CTT CTTCTT 152639 insertion NM_007294.3(BRCA1):c.3579_3580insT (p.Thr1194Tyrfs) 587782824 MedGen:C0027672,SNOMED CT:C0027672 17 43091951 43091952 - A 152639 insertion NM_007294.3(BRCA1):c.3579_3580insT (p.Thr1194Tyrfs) 587782824 MedGen:C0027672,SNOMED CT:C0027672 17 41243968 41243969 - A 152640 single nucleotide variant NM_007294.3(BRCA1):c.4771G>A (p.Gly1591Ser) 587782825 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43071143 43071143 C T 152640 single nucleotide variant NM_007294.3(BRCA1):c.4771G>A (p.Gly1591Ser) 587782825 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41223160 41223160 C T 152652 deletion NM_007294.3(BRCA1):c.3969_3970delAA (p.Gln1323Hisfs) 587782834 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43091561 43091562 TT - 152652 deletion NM_007294.3(BRCA1):c.3969_3970delAA (p.Gln1323Hisfs) 587782834 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41243578 41243579 TT - 152664 single nucleotide variant NM_007294.3(BRCA1):c.1920A>T (p.Gln640His) 587782843 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43093611 43093611 T A 152664 single nucleotide variant NM_007294.3(BRCA1):c.1920A>T (p.Gln640His) 587782843 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41245628 41245628 T A 152692 single nucleotide variant NM_007294.3(BRCA1):c.3289A>T (p.Ser1097Cys) 587782864 MedGen:C0027672,SNOMED CT:C0027672 17 43092242 43092242 T A 152692 single nucleotide variant NM_007294.3(BRCA1):c.3289A>T (p.Ser1097Cys) 587782864 MedGen:C0027672,SNOMED CT:C0027672 17 41244259 41244259 T A 152699 single nucleotide variant NM_007294.3(BRCA1):c.4177A>G (p.Thr1393Ala) 587782870 MedGen:C0027672,SNOMED CT:C0027672 17 43090952 43090952 T C 152699 single nucleotide variant NM_007294.3(BRCA1):c.4177A>G (p.Thr1393Ala) 587782870 MedGen:C0027672,SNOMED CT:C0027672 17 41242969 41242969 T C 152702 single nucleotide variant NM_007294.3(BRCA1):c.5413C>T (p.His1805Tyr) 587782873 MedGen:C0027672,SNOMED CT:C0027672 17 43047697 43047697 G A 152702 single nucleotide variant NM_007294.3(BRCA1):c.5413C>T (p.His1805Tyr) 587782873 MedGen:C0027672,SNOMED CT:C0027672 17 41199714 41199714 G A 152710 deletion NM_007294.3(BRCA1):c.4250delT (p.Val1417Glyfs) 587782879 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43082511 43082511 A - 152710 deletion NM_007294.3(BRCA1):c.4250delT (p.Val1417Glyfs) 587782879 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41234528 41234528 A - 152714 single nucleotide variant NM_007294.3(BRCA1):c.358G>A (p.Asp120Asn) 587782882 MedGen:C0027672,SNOMED CT:C0027672 17 43104205 43104205 C T 152714 single nucleotide variant NM_007294.3(BRCA1):c.358G>A (p.Asp120Asn) 587782882 MedGen:C0027672,SNOMED CT:C0027672 17 41256222 41256222 C T 152719 single nucleotide variant NM_007294.3(BRCA1):c.5476C>A (p.Gln1826Lys) 587782887 MedGen:C0027672,SNOMED CT:C0027672 17 43045794 43045794 G T 152719 single nucleotide variant NM_007294.3(BRCA1):c.5476C>A (p.Gln1826Lys) 587782887 MedGen:C0027672,SNOMED CT:C0027672 17 41197811 41197811 G T 165987 single nucleotide variant NM_007294.3(BRCA1):c.2690C>T (p.Pro897Leu) 587776484 MedGen:C2676676,OMIM:604370 17 43092841 43092841 G A 165981 single nucleotide variant NM_007294.3(BRCA1):c.1234G>A (p.Val412Ile) 587776478 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094297 43094297 C T 165981 single nucleotide variant NM_007294.3(BRCA1):c.1234G>A (p.Val412Ile) 587776478 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246314 41246314 C T 165982 single nucleotide variant NM_007294.3(BRCA1):c.1295T>C (p.Leu432Pro) 369394098 MedGen:C2676676,OMIM:604370 17 43094236 43094236 A G 165982 single nucleotide variant NM_007294.3(BRCA1):c.1295T>C (p.Leu432Pro) 369394098 MedGen:C2676676,OMIM:604370 17 41246253 41246253 A G 165983 deletion NM_007294.3(BRCA1):c.1612_1616delCAAAC (p.Gln538Glyfs) 587776480 MedGen:C2676676,OMIM:604370 17 43093915 43093919 GTTTG - 165983 deletion NM_007294.3(BRCA1):c.1612_1616delCAAAC (p.Gln538Glyfs) 587776480 MedGen:C2676676,OMIM:604370 17 41245932 41245936 GTTTG - 165984 single nucleotide variant NM_007294.3(BRCA1):c.1975C>G (p.Pro659Ala) 587776481 MedGen:C2676676,OMIM:604370 17 43093556 43093556 G C 165984 single nucleotide variant NM_007294.3(BRCA1):c.1975C>G (p.Pro659Ala) 587776481 MedGen:C2676676,OMIM:604370 17 41245573 41245573 G C 165985 single nucleotide variant NM_007294.3(BRCA1):c.2342A>C (p.Glu781Ala) 587776482 MedGen:C2676676,OMIM:604370 17 43093189 43093189 T G 165985 single nucleotide variant NM_007294.3(BRCA1):c.2342A>C (p.Glu781Ala) 587776482 MedGen:C2676676,OMIM:604370 17 41245206 41245206 T G 165986 single nucleotide variant NM_007294.3(BRCA1):c.2456C>G (p.Ser819Cys) 192655097 MedGen:C2676676,OMIM:604370 17 43093075 43093075 G C 165986 single nucleotide variant NM_007294.3(BRCA1):c.2456C>G (p.Ser819Cys) 192655097 MedGen:C2676676,OMIM:604370 17 41245092 41245092 G C 165987 single nucleotide variant NM_007294.3(BRCA1):c.2690C>T (p.Pro897Leu) 587776484 MedGen:C2676676,OMIM:604370 17 41244858 41244858 G A 165988 deletion NM_007294.3(BRCA1):c.273_274delTG (p.Ala92Phefs) 587776485 MedGen:C2676676,OMIM:604370 17 43104895 43104896 CA - 165988 deletion NM_007294.3(BRCA1):c.273_274delTG (p.Ala92Phefs) 587776485 MedGen:C2676676,OMIM:604370 17 41256912 41256913 CA - 165989 single nucleotide variant NM_007294.3(BRCA1):c.2980T>A (p.Cys994Ser) 144853230 MedGen:C2676676,OMIM:604370 17 43092551 43092551 A T 165989 single nucleotide variant NM_007294.3(BRCA1):c.2980T>A (p.Cys994Ser) 144853230 MedGen:C2676676,OMIM:604370 17 41244568 41244568 A T 165990 single nucleotide variant NM_007294.3(BRCA1):c.3170G>A (p.Ser1057Asn) 587776487 MedGen:C2676676,OMIM:604370 17 43092361 43092361 C T 165990 single nucleotide variant NM_007294.3(BRCA1):c.3170G>A (p.Ser1057Asn) 587776487 MedGen:C2676676,OMIM:604370 17 41244378 41244378 C T 165991 single nucleotide variant NM_007294.3(BRCA1):c.3736A>G (p.Thr1246Ala) 587776488 MedGen:C2676676,OMIM:604370 17 43091795 43091795 T C 165991 single nucleotide variant NM_007294.3(BRCA1):c.3736A>G (p.Thr1246Ala) 587776488 MedGen:C2676676,OMIM:604370 17 41243812 41243812 T C 165992 single nucleotide variant NM_007294.3(BRCA1):c.373A>G (p.Ile125Val) 587776489 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43104190 43104190 T C 165992 single nucleotide variant NM_007294.3(BRCA1):c.373A>G (p.Ile125Val) 587776489 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41256207 41256207 T C 165993 single nucleotide variant NM_007294.3(BRCA1):c.42C>T (p.Val14=) 80356827 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43124055 43124055 G A 165993 single nucleotide variant NM_007294.3(BRCA1):c.42C>T (p.Val14=) 80356827 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41276072 41276072 G A 165995 single nucleotide variant NM_007294.3(BRCA1):c.5401G>A (p.Gly1801Ser) 587776492 MedGen:C2676676,OMIM:604370 17 43049126 43049126 C T 165995 single nucleotide variant NM_007294.3(BRCA1):c.5401G>A (p.Gly1801Ser) 587776492 MedGen:C2676676,OMIM:604370 17 41201143 41201143 C T 165996 single nucleotide variant NM_007294.3(BRCA1):c.5407-16C>T 587776493 MedGen:C2676676,OMIM:604370 17 43047719 43047719 G A 165996 single nucleotide variant NM_007294.3(BRCA1):c.5407-16C>T 587776493 MedGen:C2676676,OMIM:604370 17 41199736 41199736 G A 166251 single nucleotide variant NM_007294.3(BRCA1):c.1767C>A (p.Ser589Arg) 587783039 MedGen:C2676676,OMIM:604370 17 43093764 43093764 G T 166251 single nucleotide variant NM_007294.3(BRCA1):c.1767C>A (p.Ser589Arg) 587783039 MedGen:C2676676,OMIM:604370 17 41245781 41245781 G T 166252 single nucleotide variant NM_007294.3(BRCA1):c.144G>A (p.Met48Ile) 587783040 MedGen:C2676676,OMIM:604370 17 43106524 43106524 C T 166252 single nucleotide variant NM_007294.3(BRCA1):c.144G>A (p.Met48Ile) 587783040 MedGen:C2676676,OMIM:604370 17 41258541 41258541 C T 166253 single nucleotide variant NM_007294.3(BRCA1):c.1666A>C (p.Lys556Gln) 587783041 MedGen:C2676676,OMIM:604370 17 43093865 43093865 T G 166253 single nucleotide variant NM_007294.3(BRCA1):c.1666A>C (p.Lys556Gln) 587783041 MedGen:C2676676,OMIM:604370 17 41245882 41245882 T G 172180 single nucleotide variant NM_007294.3(BRCA1):c.4468G>T (p.Glu1490Ter) 138608489 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41228521 41228521 C A 172180 single nucleotide variant NM_007294.3(BRCA1):c.4468G>T (p.Glu1490Ter) 138608489 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43076504 43076504 C A 172181 single nucleotide variant NM_007294.3(BRCA1):c.4358-2786G>A 374435098 MedGen:C0677776,Orphanet:ORPHA145 17 41231417 41231417 C T 172181 single nucleotide variant NM_007294.3(BRCA1):c.4358-2786G>A 374435098 MedGen:C0677776,Orphanet:ORPHA145 17 43079400 43079400 C T 178861 deletion NM_007294.3(BRCA1):c.5133delA (p.Lys1711Asnfs) 730880288 MedGen:C2676676,OMIM:604370 17 43063893 43063893 T - 178861 deletion NM_007294.3(BRCA1):c.5133delA (p.Lys1711Asnfs) 730880288 MedGen:C2676676,OMIM:604370 17 41215910 41215910 T - 178862 indel NM_007294.3(BRCA1):c.4837_4838delAGinsGCC (p.Ser1613Alafs) 730880287 MedGen:C2676676,OMIM:604370 17 43071076 43071077 CT GGC 178862 indel NM_007294.3(BRCA1):c.4837_4838delAGinsGCC (p.Ser1613Alafs) 730880287 MedGen:C2676676,OMIM:604370 17 41223093 41223094 CT GGC 180811 single nucleotide variant NM_007294.3(BRCA1):c.5555C>T (p.Thr1852Ile) 730881502 MedGen:CN169374 17 43045715 43045715 G A 180811 single nucleotide variant NM_007294.3(BRCA1):c.5555C>T (p.Thr1852Ile) 730881502 MedGen:CN169374 17 41197732 41197732 G A 180810 single nucleotide variant NM_007294.3(BRCA1):c.*20C>T 375042815 MedGen:CN169374 17 43045658 43045658 G A 180810 single nucleotide variant NM_007294.3(BRCA1):c.*20C>T 375042815 MedGen:CN169374 17 41197675 41197675 G A 180812 single nucleotide variant NM_007294.3(BRCA1):c.5528C>A (p.Ala1843Glu) 730881447 MedGen:CN169374 17 43045742 43045742 G T 180812 single nucleotide variant NM_007294.3(BRCA1):c.5528C>A (p.Ala1843Glu) 730881447 MedGen:CN169374 17 41197759 41197759 G T 180813 single nucleotide variant NM_007294.3(BRCA1):c.5512G>A (p.Val1838Met) 730881501 MedGen:CN169374 17 43045758 43045758 C T 180813 single nucleotide variant NM_007294.3(BRCA1):c.5512G>A (p.Val1838Met) 730881501 MedGen:CN169374 17 41197775 41197775 C T 180814 single nucleotide variant NM_007294.3(BRCA1):c.5504G>C (p.Arg1835Pro) 273902776 MedGen:CN169374 17 43045766 43045766 C G 180814 single nucleotide variant NM_007294.3(BRCA1):c.5504G>C (p.Arg1835Pro) 273902776 MedGen:CN169374 17 41197783 41197783 C G 180815 single nucleotide variant NM_007294.3(BRCA1):c.5501C>T (p.Thr1834Ile) 730881500 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43045769 43045769 G A 180815 single nucleotide variant NM_007294.3(BRCA1):c.5501C>T (p.Thr1834Ile) 730881500 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41197786 41197786 G A 180816 deletion NM_007294.3(BRCA1):c.5474_5481delGGCAGATG (p.Gly1825Valfs) 730881441 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43045789 43045796 CATCTGCC - 180816 deletion NM_007294.3(BRCA1):c.5474_5481delGGCAGATG (p.Gly1825Valfs) 730881441 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41197806 41197813 CATCTGCC - 180817 single nucleotide variant NM_007294.3(BRCA1):c.5477A>T (p.Gln1826Leu) 730881499 MedGen:CN169374 17 43045793 43045793 T A 180817 single nucleotide variant NM_007294.3(BRCA1):c.5477A>T (p.Gln1826Leu) 730881499 MedGen:CN169374 17 41197810 41197810 T A 180818 single nucleotide variant NM_007294.3(BRCA1):c.5468-5T>G 730881498 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43045807 43045807 A C 180818 single nucleotide variant NM_007294.3(BRCA1):c.5468-5T>G 730881498 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41197824 41197824 A C 180819 single nucleotide variant NM_007294.3(BRCA1):c.5412C>T (p.Val1804=) 730881456 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43047698 43047698 G A 180819 single nucleotide variant NM_007294.3(BRCA1):c.5412C>T (p.Val1804=) 730881456 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41199715 41199715 G A 180820 single nucleotide variant NM_007294.3(BRCA1):c.5378A>C (p.Lys1793Thr) 730881446 MedGen:CN169374 17 43049149 43049149 T G 180820 single nucleotide variant NM_007294.3(BRCA1):c.5378A>C (p.Lys1793Thr) 730881446 MedGen:CN169374 17 41201166 41201166 T G 180821 single nucleotide variant NM_007294.3(BRCA1):c.5332+2T>G 80358182 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43051061 43051061 A C 180821 single nucleotide variant NM_007294.3(BRCA1):c.5332+2T>G 80358182 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41203078 41203078 A C 180822 single nucleotide variant NM_007294.3(BRCA1):c.5304C>T (p.Cys1768=) 138493864 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43051091 43051091 G A 180822 single nucleotide variant NM_007294.3(BRCA1):c.5304C>T (p.Cys1768=) 138493864 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41203108 41203108 G A 180823 single nucleotide variant NM_007294.3(BRCA1):c.5303G>A (p.Cys1768Tyr) 730881497 MedGen:CN169374 17 43051092 43051092 C T 180823 single nucleotide variant NM_007294.3(BRCA1):c.5303G>A (p.Cys1768Tyr) 730881497 MedGen:CN169374 17 41203109 41203109 C T 180824 single nucleotide variant NM_007294.3(BRCA1):c.5186T>A (p.Leu1729Gln) 730881496 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43063340 43063340 A T 180824 single nucleotide variant NM_007294.3(BRCA1):c.5186T>A (p.Leu1729Gln) 730881496 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41215357 41215357 A T 180825 single nucleotide variant NM_007294.3(BRCA1):c.4987-1G>A 730881495 MedGen:C2676676,OMIM:604370;MedGen:CN221809 17 43067696 43067696 C T 180825 single nucleotide variant NM_007294.3(BRCA1):c.4987-1G>A 730881495 MedGen:C2676676,OMIM:604370;MedGen:CN221809 17 41219713 41219713 C T 180826 single nucleotide variant NM_007294.3(BRCA1):c.4874A>G (p.Tyr1625Cys) 730881494 MedGen:CN169374 17 43071040 43071040 T C 180826 single nucleotide variant NM_007294.3(BRCA1):c.4874A>G (p.Tyr1625Cys) 730881494 MedGen:CN169374 17 41223057 41223057 T C 180827 single nucleotide variant NM_007294.3(BRCA1):c.4696T>G (p.Ser1566Ala) 730881493 MedGen:CN169374 17 43071218 43071218 A C 180827 single nucleotide variant NM_007294.3(BRCA1):c.4696T>G (p.Ser1566Ala) 730881493 MedGen:CN169374 17 41223235 41223235 A C 180828 single nucleotide variant NM_007294.3(BRCA1):c.4639T>A (p.Leu1547Met) 730881492 MedGen:CN169374 17 43074367 43074367 A T 180828 single nucleotide variant NM_007294.3(BRCA1):c.4639T>A (p.Leu1547Met) 730881492 MedGen:CN169374 17 41226384 41226384 A T 180829 indel NM_007294.3(BRCA1):c.4614_4615delGCinsTT (p.Gln1538His) 730881464 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43074391 43074392 GC AA 180829 indel NM_007294.3(BRCA1):c.4614_4615delGCinsTT (p.Gln1538His) 730881464 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41226408 41226409 GC AA 180830 single nucleotide variant NM_007294.3(BRCA1):c.4419T>A (p.Ser1473=) 730881455 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43076553 43076553 A T 180830 single nucleotide variant NM_007294.3(BRCA1):c.4419T>A (p.Ser1473=) 730881455 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41228570 41228570 A T 180831 single nucleotide variant NM_007294.3(BRCA1):c.4339C>A (p.Gln1447Lys) 80357067 MedGen:CN169374 17 43082422 43082422 G T 180831 single nucleotide variant NM_007294.3(BRCA1):c.4339C>A (p.Gln1447Lys) 80357067 MedGen:CN169374 17 41234439 41234439 G T 180832 single nucleotide variant NM_007294.3(BRCA1):c.4305C>G (p.Asp1435Glu) 730881445 MedGen:CN169374 17 43082456 43082456 G C 180832 single nucleotide variant NM_007294.3(BRCA1):c.4305C>G (p.Asp1435Glu) 730881445 MedGen:CN169374 17 41234473 41234473 G C 180833 deletion NM_007294.3(BRCA1):c.4187_4189delAGA (p.Gln1396del) 730881463 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43082572 43082574 TCT - 180833 deletion NM_007294.3(BRCA1):c.4187_4189delAGA (p.Gln1396del) 730881463 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41234589 41234591 TCT - 180834 single nucleotide variant NM_007294.3(BRCA1):c.4186C>A (p.Gln1396Lys) 80357011 MedGen:CN169374 17 43082575 43082575 G T 180834 single nucleotide variant NM_007294.3(BRCA1):c.4186C>A (p.Gln1396Lys) 80357011 MedGen:CN169374 17 41234592 41234592 G T 180835 single nucleotide variant NM_007294.3(BRCA1):c.4129A>G (p.Ser1377Gly) 730881491 MedGen:CN169374 17 43091000 43091000 T C 180835 single nucleotide variant NM_007294.3(BRCA1):c.4129A>G (p.Ser1377Gly) 730881491 MedGen:CN169374 17 41243017 41243017 T C 180836 single nucleotide variant NM_007294.3(BRCA1):c.4097-2A>C 80358019 MedGen:CN221809 17 43091034 43091034 T G 180836 single nucleotide variant NM_007294.3(BRCA1):c.4097-2A>C 80358019 MedGen:CN221809 17 41243051 41243051 T G 180837 single nucleotide variant NM_007294.3(BRCA1):c.4015G>A (p.Glu1339Lys) 80357021 MedGen:CN169374 17 43091516 43091516 C T 180837 single nucleotide variant NM_007294.3(BRCA1):c.4015G>A (p.Glu1339Lys) 80357021 MedGen:CN169374 17 41243533 41243533 C T 180838 single nucleotide variant NM_007294.3(BRCA1):c.3995G>T (p.Gly1332Val) 730881490 MedGen:CN169374 17 43091536 43091536 C A 180838 single nucleotide variant NM_007294.3(BRCA1):c.3995G>T (p.Gly1332Val) 730881490 MedGen:CN169374 17 41243553 41243553 C A 180839 single nucleotide variant NM_007294.3(BRCA1):c.3980A>G (p.Gln1327Arg) 730881444 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091551 43091551 T C 180839 single nucleotide variant NM_007294.3(BRCA1):c.3980A>G (p.Gln1327Arg) 730881444 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243568 41243568 T C 180840 single nucleotide variant NM_007294.3(BRCA1):c.3900C>T (p.Cys1300=) 730881454 MedGen:CN169374 17 43091631 43091631 G A 180840 single nucleotide variant NM_007294.3(BRCA1):c.3900C>T (p.Cys1300=) 730881454 MedGen:CN169374 17 41243648 41243648 G A 180841 single nucleotide variant NM_007294.3(BRCA1):c.3830C>T (p.Ala1277Val) 730881489 MedGen:CN169374 17 43091701 43091701 G A 180841 single nucleotide variant NM_007294.3(BRCA1):c.3830C>T (p.Ala1277Val) 730881489 MedGen:CN169374 17 41243718 41243718 G A 180842 deletion NM_007294.3(BRCA1):c.3767_3768delCA (p.Thr1256Argfs) 730881440 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 43091763 43091764 TG - 180842 deletion NM_007294.3(BRCA1):c.3767_3768delCA (p.Thr1256Argfs) 730881440 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 17 41243780 41243781 TG - 180843 single nucleotide variant NM_007294.3(BRCA1):c.3717T>A (p.Ser1239=) 730881453 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43091814 43091814 A T 180843 single nucleotide variant NM_007294.3(BRCA1):c.3717T>A (p.Ser1239=) 730881453 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41243831 41243831 A T 180844 single nucleotide variant NM_007294.3(BRCA1):c.3681A>T (p.Gln1227His) 730881488 MedGen:CN169374 17 43091850 43091850 T A 180844 single nucleotide variant NM_007294.3(BRCA1):c.3681A>T (p.Gln1227His) 730881488 MedGen:CN169374 17 41243867 41243867 T A 180845 single nucleotide variant NM_007294.3(BRCA1):c.3270A>T (p.Gln1090His) 369925993 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092261 43092261 T A 180845 single nucleotide variant NM_007294.3(BRCA1):c.3270A>T (p.Gln1090His) 369925993 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244278 41244278 T A 180846 deletion NM_007294.3(BRCA1):c.3129_3138delTATTAATGAA (p.Asn1043Lysfs) 730881462 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092393 43092402 TTCATTAATA - 180846 deletion NM_007294.3(BRCA1):c.3129_3138delTATTAATGAA (p.Asn1043Lysfs) 730881462 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244410 41244419 TTCATTAATA - 180847 single nucleotide variant NM_007294.3(BRCA1):c.3097G>A (p.Glu1033Lys) 273899698 MedGen:CN169374 17 43092434 43092434 C T 180847 single nucleotide variant NM_007294.3(BRCA1):c.3097G>A (p.Glu1033Lys) 273899698 MedGen:CN169374 17 41244451 41244451 C T 180848 deletion NM_007294.3(BRCA1):c.2945delC (p.Pro982Hisfs) 730881461 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092586 43092586 G - 180848 deletion NM_007294.3(BRCA1):c.2945delC (p.Pro982Hisfs) 730881461 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244603 41244603 G - 180849 deletion NM_007294.3(BRCA1):c.2938delA (p.Ile980Tyrfs) 730881439 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092593 43092593 T - 180849 deletion NM_007294.3(BRCA1):c.2938delA (p.Ile980Tyrfs) 730881439 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244610 41244610 T - 180850 single nucleotide variant NM_007294.3(BRCA1):c.2935C>A (p.Arg979Ser) 80356970 MedGen:CN169374 17 43092596 43092596 G T 180850 single nucleotide variant NM_007294.3(BRCA1):c.2935C>A (p.Arg979Ser) 80356970 MedGen:CN169374 17 41244613 41244613 G T 180851 single nucleotide variant NM_007294.3(BRCA1):c.2922A>C (p.Leu974Phe) 730881487 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145 17 43092609 43092609 T G 180851 single nucleotide variant NM_007294.3(BRCA1):c.2922A>C (p.Leu974Phe) 730881487 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145 17 41244626 41244626 T G 180852 single nucleotide variant NM_007294.3(BRCA1):c.2888C>T (p.Thr963Ile) 730881443 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092643 43092643 G A 180852 single nucleotide variant NM_007294.3(BRCA1):c.2888C>T (p.Thr963Ile) 730881443 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244660 41244660 G A 180853 single nucleotide variant NM_007294.3(BRCA1):c.2860C>T (p.Leu954=) 730881452 MedGen:CN169374 17 43092671 43092671 G A 180853 single nucleotide variant NM_007294.3(BRCA1):c.2860C>T (p.Leu954=) 730881452 MedGen:CN169374 17 41244688 41244688 G A 180854 single nucleotide variant NM_007294.3(BRCA1):c.2846G>A (p.Gly949Asp) 730881486 MedGen:CN169374 17 43092685 43092685 C T 180854 single nucleotide variant NM_007294.3(BRCA1):c.2846G>A (p.Gly949Asp) 730881486 MedGen:CN169374 17 41244702 41244702 C T 180855 single nucleotide variant NM_007294.3(BRCA1):c.2808T>G (p.Asp936Glu) 730881485 MedGen:CN169374 17 43092723 43092723 A C 180855 single nucleotide variant NM_007294.3(BRCA1):c.2808T>G (p.Asp936Glu) 730881485 MedGen:CN169374 17 41244740 41244740 A C 180856 indel NM_007294.3(BRCA1):c.2638_2639delGAinsAC (p.Glu880Thr) 730881460 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43092892 43092893 TC GT 180856 indel NM_007294.3(BRCA1):c.2638_2639delGAinsAC (p.Glu880Thr) 730881460 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41244909 41244910 TC GT 180857 single nucleotide variant NM_007294.3(BRCA1):c.2634A>G (p.Ala878=) 730881451 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092897 43092897 T C 180874 single nucleotide variant NM_007294.3(BRCA1):c.1651A>G (p.Ser551Gly) 730881472 MedGen:CN169374 17 41245897 41245897 T C 180857 single nucleotide variant NM_007294.3(BRCA1):c.2634A>G (p.Ala878=) 730881451 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244914 41244914 T C 180858 single nucleotide variant NM_007294.3(BRCA1):c.2444T>C (p.Ile815Thr) 730881484 MedGen:CN169374 17 43093087 43093087 A G 180858 single nucleotide variant NM_007294.3(BRCA1):c.2444T>C (p.Ile815Thr) 730881484 MedGen:CN169374 17 41245104 41245104 A G 180859 single nucleotide variant NM_007294.3(BRCA1):c.2333G>A (p.Gly778Asp) 730881483 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093198 43093198 C T 180859 single nucleotide variant NM_007294.3(BRCA1):c.2333G>A (p.Gly778Asp) 730881483 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245215 41245215 C T 180860 single nucleotide variant NM_007294.3(BRCA1):c.2321G>A (p.Gly774Asp) 730881482 MedGen:CN169374 17 43093210 43093210 C T 180860 single nucleotide variant NM_007294.3(BRCA1):c.2321G>A (p.Gly774Asp) 730881482 MedGen:CN169374 17 41245227 41245227 C T 180861 single nucleotide variant NM_007294.3(BRCA1):c.2312T>C (p.Leu771Ser) 730881481 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093219 43093219 A G 180861 single nucleotide variant NM_007294.3(BRCA1):c.2312T>C (p.Leu771Ser) 730881481 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245236 41245236 A G 180862 single nucleotide variant NM_007294.3(BRCA1):c.2259T>G (p.Ser753Arg) 730881480 MedGen:CN169374 17 43093272 43093272 A C 180862 single nucleotide variant NM_007294.3(BRCA1):c.2259T>G (p.Ser753Arg) 730881480 MedGen:CN169374 17 41245289 41245289 A C 180863 single nucleotide variant NM_007294.3(BRCA1):c.2246A>T (p.Asp749Val) 730881479 MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 43093285 43093285 T A 180863 single nucleotide variant NM_007294.3(BRCA1):c.2246A>T (p.Asp749Val) 730881479 MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 41245302 41245302 T A 180864 single nucleotide variant NM_007294.3(BRCA1):c.2148T>A (p.Ser716Arg) 730881478 MedGen:CN169374 17 43093383 43093383 A T 180864 single nucleotide variant NM_007294.3(BRCA1):c.2148T>A (p.Ser716Arg) 730881478 MedGen:CN169374 17 41245400 41245400 A T 180865 single nucleotide variant NM_007294.3(BRCA1):c.2143A>T (p.Thr715Ser) 730881477 MedGen:CN169374 17 43093388 43093388 T A 180865 single nucleotide variant NM_007294.3(BRCA1):c.2143A>T (p.Thr715Ser) 730881477 MedGen:CN169374 17 41245405 41245405 T A 180866 single nucleotide variant NM_007294.3(BRCA1):c.2090T>C (p.Phe697Ser) 730881476 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145 17 43093441 43093441 A G 180866 single nucleotide variant NM_007294.3(BRCA1):c.2090T>C (p.Phe697Ser) 730881476 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0677776,Orphanet:ORPHA145 17 41245458 41245458 A G 180867 single nucleotide variant NM_007294.3(BRCA1):c.2039A>G (p.Lys680Arg) 730881475 MedGen:CN169374 17 43093492 43093492 T C 180867 single nucleotide variant NM_007294.3(BRCA1):c.2039A>G (p.Lys680Arg) 730881475 MedGen:CN169374 17 41245509 41245509 T C 180868 single nucleotide variant NM_007294.3(BRCA1):c.1922T>C (p.Ile641Thr) 730881474 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093609 43093609 A G 180868 single nucleotide variant NM_007294.3(BRCA1):c.1922T>C (p.Ile641Thr) 730881474 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245626 41245626 A G 180869 single nucleotide variant NM_007294.3(BRCA1):c.1901C>T (p.Pro634Leu) 80357121 MedGen:CN169374 17 43093630 43093630 G A 180869 single nucleotide variant NM_007294.3(BRCA1):c.1901C>T (p.Pro634Leu) 80357121 MedGen:CN169374 17 41245647 41245647 G A 180870 single nucleotide variant NM_007294.3(BRCA1):c.1866G>A (p.Ala622=) 1800064 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093665 43093665 C T 180870 single nucleotide variant NM_007294.3(BRCA1):c.1866G>A (p.Ala622=) 1800064 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245682 41245682 C T 180871 deletion NM_007294.3(BRCA1):c.1860delT (p.His621Metfs) 730881459 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093671 43093671 A - 180871 deletion NM_007294.3(BRCA1):c.1860delT (p.His621Metfs) 730881459 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245688 41245688 A - 180872 single nucleotide variant NM_007294.3(BRCA1):c.1786C>T (p.Leu596Phe) 80357371 MedGen:CN169374 17 43093745 43093745 G A 180872 single nucleotide variant NM_007294.3(BRCA1):c.1786C>T (p.Leu596Phe) 80357371 MedGen:CN169374 17 41245762 41245762 G A 180873 single nucleotide variant NM_007294.3(BRCA1):c.1714G>T (p.Glu572Ter) 730881473 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43093817 43093817 C A 180873 single nucleotide variant NM_007294.3(BRCA1):c.1714G>T (p.Glu572Ter) 730881473 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41245834 41245834 C A 180874 single nucleotide variant NM_007294.3(BRCA1):c.1651A>G (p.Ser551Gly) 730881472 MedGen:CN169374 17 43093880 43093880 T C 180875 single nucleotide variant NM_007294.3(BRCA1):c.1618G>A (p.Glu540Lys) 730881471 MedGen:CN169374 17 43093913 43093913 C T 180875 single nucleotide variant NM_007294.3(BRCA1):c.1618G>A (p.Glu540Lys) 730881471 MedGen:CN169374 17 41245930 41245930 C T 180876 single nucleotide variant NM_007294.3(BRCA1):c.1616C>A (p.Thr539Lys) 80357374 MedGen:CN169374 17 43093915 43093915 G T 180876 single nucleotide variant NM_007294.3(BRCA1):c.1616C>A (p.Thr539Lys) 80357374 MedGen:CN169374 17 41245932 41245932 G T 180877 single nucleotide variant NM_007294.3(BRCA1):c.1456T>A (p.Phe486Ile) 55906931 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094075 43094075 A T 180877 single nucleotide variant NM_007294.3(BRCA1):c.1456T>A (p.Phe486Ile) 55906931 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246092 41246092 A T 180878 deletion NM_007294.3(BRCA1):c.1340_1341delTT (p.Val447Alafs) 730881458 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094190 43094191 AA - 180878 deletion NM_007294.3(BRCA1):c.1340_1341delTT (p.Val447Alafs) 730881458 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246207 41246208 AA - 180879 single nucleotide variant NM_007294.3(BRCA1):c.1313A>C (p.Glu438Ala) 730881470 MedGen:CN169374 17 43094218 43094218 T G 180879 single nucleotide variant NM_007294.3(BRCA1):c.1313A>C (p.Glu438Ala) 730881470 MedGen:CN169374 17 41246235 41246235 T G 180880 single nucleotide variant NM_007294.3(BRCA1):c.1259A>G (p.Asp420Gly) 730881442 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094272 43094272 T C 180880 single nucleotide variant NM_007294.3(BRCA1):c.1259A>G (p.Asp420Gly) 730881442 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246289 41246289 T C 180881 single nucleotide variant NM_007294.3(BRCA1):c.1232A>T (p.Asp411Val) 730881469 MedGen:CN169374 17 43094299 43094299 T A 180881 single nucleotide variant NM_007294.3(BRCA1):c.1232A>T (p.Asp411Val) 730881469 MedGen:CN169374 17 41246316 41246316 T A 180882 single nucleotide variant NM_007294.3(BRCA1):c.923G>C (p.Ser308Thr) 561998108 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094608 43094608 C G 180882 single nucleotide variant NM_007294.3(BRCA1):c.923G>C (p.Ser308Thr) 561998108 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246625 41246625 C G 180883 single nucleotide variant NM_007294.3(BRCA1):c.869T>G (p.Leu290Ter) 730881468 MedGen:C2676676,OMIM:604370;MedGen:CN221809 17 43094662 43094662 A C 180883 single nucleotide variant NM_007294.3(BRCA1):c.869T>G (p.Leu290Ter) 730881468 MedGen:C2676676,OMIM:604370;MedGen:CN221809 17 41246679 41246679 A C 180884 single nucleotide variant NM_007294.3(BRCA1):c.788G>A (p.Gly263Asp) 397509319 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094743 43094743 C T 180884 single nucleotide variant NM_007294.3(BRCA1):c.788G>A (p.Gly263Asp) 397509319 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246760 41246760 C T 180885 single nucleotide variant NM_007294.3(BRCA1):c.729T>G (p.Asn243Lys) 730881467 MedGen:CN169374 17 43094802 43094802 A C 180885 single nucleotide variant NM_007294.3(BRCA1):c.729T>G (p.Asn243Lys) 730881467 MedGen:CN169374 17 41246819 41246819 A C 180886 single nucleotide variant NM_007294.3(BRCA1):c.625C>T (p.Pro209Ser) 730881466 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43095891 43095891 G A 180886 single nucleotide variant NM_007294.3(BRCA1):c.625C>T (p.Pro209Ser) 730881466 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41247908 41247908 G A 180888 single nucleotide variant NM_007294.3(BRCA1):c.441+17T>C 368415464 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 43104105 43104105 A G 180888 single nucleotide variant NM_007294.3(BRCA1):c.441+17T>C 368415464 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 41256122 41256122 A G 180889 deletion NM_007294.3(BRCA1):c.441+16delT 730881449 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104106 43104106 A - 180889 deletion NM_007294.3(BRCA1):c.441+16delT 730881449 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256123 41256123 A - 180890 single nucleotide variant NM_007294.3(BRCA1):c.420T>C (p.Ser140=) 730881448 MedGen:CN169374 17 43104143 43104143 A G 180890 single nucleotide variant NM_007294.3(BRCA1):c.420T>C (p.Ser140=) 730881448 MedGen:CN169374 17 41256160 41256160 A G 180891 single nucleotide variant NM_007294.3(BRCA1):c.288C>T (p.Asp96=) 146085503 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43104881 43104881 G A 180891 single nucleotide variant NM_007294.3(BRCA1):c.288C>T (p.Asp96=) 146085503 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41256898 41256898 G A 180892 single nucleotide variant NM_007294.3(BRCA1):c.222A>C (p.Gln74His) 730881465 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104947 43104947 T G 180892 single nucleotide variant NM_007294.3(BRCA1):c.222A>C (p.Gln74His) 730881465 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256964 41256964 T G 180893 single nucleotide variant NM_007294.3(BRCA1):c.216C>G (p.Ser72Arg) 80356967 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104953 43104953 G C 180893 single nucleotide variant NM_007294.3(BRCA1):c.216C>G (p.Ser72Arg) 80356967 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256970 41256970 G C 180894 single nucleotide variant NM_007294.3(BRCA1):c.172C>A (p.Pro58Thr) 397508904 MedGen:CN169374 17 43106496 43106496 G T 180894 single nucleotide variant NM_007294.3(BRCA1):c.172C>A (p.Pro58Thr) 397508904 MedGen:CN169374 17 41258513 41258513 G T 180895 single nucleotide variant NM_007294.3(BRCA1):c.60A>C (p.Lys20Asn) 202168814 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43124037 43124037 T G 180895 single nucleotide variant NM_007294.3(BRCA1):c.60A>C (p.Lys20Asn) 202168814 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41276054 41276054 T G 180896 deletion NM_007294.3(BRCA1):c.45delT (p.Asn16Metfs) 730881457 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43124052 43124052 A - 180896 deletion NM_007294.3(BRCA1):c.45delT (p.Asn16Metfs) 730881457 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41276069 41276069 A - 181129 insertion NM_007294.3:c.134+19insT -1 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 na -1 -1 na na 181130 insertion NM_007294.3:c.441+6insA -1 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 na -1 -1 na na 181133 insertion NM_007294.3:c.1363insT -1 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 na -1 -1 na na 181135 insertion NM_007294.3:c.2726insA -1 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 na -1 -1 na na 181136 insertion NM_007294.3:c.3108insT -1 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 na -1 -1 na na 181137 insertion NM_007294.3:c.3627insA -1 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 na -1 -1 na na 181138 insertion NM_007294.3:c.3648insA -1 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 na -1 -1 na na 181139 insertion NM_007294.3:c.3764insA -1 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 na -1 -1 na na 181140 insertion NM_007294.3:c.3908insT -1 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 na -1 -1 na na 181141 insertion NM_007294.3:c.4997insA -1 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 na -1 -1 na na 181313 indel NM_007294.3(BRCA1):c.5167delAinsTTT (p.Ile1723Phefs) 730882167 MedGen:C2676676,OMIM:604370 17 41215376 41215376 T AAA 181313 indel NM_007294.3(BRCA1):c.5167delAinsTTT (p.Ile1723Phefs) 730882167 MedGen:C2676676,OMIM:604370 17 43063359 43063359 T AAA 181314 single nucleotide variant NM_007294.3(BRCA1):c.5057A>G (p.His1686Arg) 730882166 MedGen:C2676676,OMIM:604370 17 41219642 41219642 T C 181314 single nucleotide variant NM_007294.3(BRCA1):c.5057A>G (p.His1686Arg) 730882166 MedGen:C2676676,OMIM:604370 17 43067625 43067625 T C 181315 single nucleotide variant NM_007294.3(BRCA1):c.4998C>A (p.Tyr1666Ter) 730882165 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41219701 41219701 G T 181315 single nucleotide variant NM_007294.3(BRCA1):c.4998C>A (p.Tyr1666Ter) 730882165 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43067684 43067684 G T 181316 single nucleotide variant NM_007294.3(BRCA1):c.3511A>T (p.Lys1171Ter) 730882164 MedGen:C2676676,OMIM:604370 17 41244037 41244037 T A 181316 single nucleotide variant NM_007294.3(BRCA1):c.3511A>T (p.Lys1171Ter) 730882164 MedGen:C2676676,OMIM:604370 17 43092020 43092020 T A 181317 deletion NM_007294.3(BRCA1):c.5194-?_5277+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 184861 single nucleotide variant NM_007294.3(BRCA1):c.5586C>T (p.His1862=) 774127304 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41197701 41197701 G A 184861 single nucleotide variant NM_007294.3(BRCA1):c.5586C>T (p.His1862=) 774127304 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43045684 43045684 G A 184862 deletion NM_007294.3(BRCA1):c.5571_5579delGATCCCCCA (p.Gln1857_Pro1859del) 775417240 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41197708 41197716 TGGGGGATC - 184862 deletion NM_007294.3(BRCA1):c.5571_5579delGATCCCCCA (p.Gln1857_Pro1859del) 775417240 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43045691 43045699 TGGGGGATC - 184863 single nucleotide variant NM_007294.3(BRCA1):c.5573T>C (p.Ile1858Thr) 755427809 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41197714 41197714 A G 184863 single nucleotide variant NM_007294.3(BRCA1):c.5573T>C (p.Ile1858Thr) 755427809 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43045697 43045697 A G 184864 single nucleotide variant NM_007294.3(BRCA1):c.5572A>C (p.Ile1858Leu) 765656957 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41197715 41197715 T G 184864 single nucleotide variant NM_007294.3(BRCA1):c.5572A>C (p.Ile1858Leu) 765656957 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43045698 43045698 T G 184865 single nucleotide variant NM_007294.3(BRCA1):c.5571G>C (p.Gln1857His) 28897699 MedGen:C0027672,SNOMED CT:C0027672 17 43045699 43045699 C G 184865 single nucleotide variant NM_007294.3(BRCA1):c.5571G>C (p.Gln1857His) 28897699 MedGen:C0027672,SNOMED CT:C0027672 17 41197716 41197716 C G 184866 single nucleotide variant NM_007294.3(BRCA1):c.5562G>A (p.Leu1854=) 786201648 MedGen:C0027672,SNOMED CT:C0027672 17 41197725 41197725 C T 184866 single nucleotide variant NM_007294.3(BRCA1):c.5562G>A (p.Leu1854=) 786201648 MedGen:C0027672,SNOMED CT:C0027672 17 43045708 43045708 C T 184867 single nucleotide variant NM_007294.3(BRCA1):c.5550G>C (p.Leu1850=) 786201502 MedGen:C0027672,SNOMED CT:C0027672 17 41197737 41197737 C G 184867 single nucleotide variant NM_007294.3(BRCA1):c.5550G>C (p.Leu1850=) 786201502 MedGen:C0027672,SNOMED CT:C0027672 17 43045720 43045720 C G 184868 single nucleotide variant NM_007294.3(BRCA1):c.5514G>T (p.Val1838=) 786201248 MedGen:C0027672,SNOMED CT:C0027672 17 41197773 41197773 C A 184868 single nucleotide variant NM_007294.3(BRCA1):c.5514G>T (p.Val1838=) 786201248 MedGen:C0027672,SNOMED CT:C0027672 17 43045756 43045756 C A 184869 single nucleotide variant NM_007294.3(BRCA1):c.5512G>T (p.Val1838Leu) 730881501 MedGen:C0027672,SNOMED CT:C0027672 17 41197775 41197775 C A 184869 single nucleotide variant NM_007294.3(BRCA1):c.5512G>T (p.Val1838Leu) 730881501 MedGen:C0027672,SNOMED CT:C0027672 17 43045758 43045758 C A 184870 single nucleotide variant NM_007294.3(BRCA1):c.5430G>A (p.Val1810=) 786201582 MedGen:C0027672,SNOMED CT:C0027672 17 41199697 41199697 C T 184870 single nucleotide variant NM_007294.3(BRCA1):c.5430G>A (p.Val1810=) 786201582 MedGen:C0027672,SNOMED CT:C0027672 17 43047680 43047680 C T 184871 single nucleotide variant NM_007294.3(BRCA1):c.5429T>C (p.Val1810Ala) 80357451 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41199698 41199698 A G 184871 single nucleotide variant NM_007294.3(BRCA1):c.5429T>C (p.Val1810Ala) 80357451 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43047681 43047681 A G 184872 single nucleotide variant NM_007294.3(BRCA1):c.5419A>G (p.Ile1807Val) 786202721 MedGen:C0027672,SNOMED CT:C0027672 17 41199708 41199708 T C 184872 single nucleotide variant NM_007294.3(BRCA1):c.5419A>G (p.Ile1807Val) 786202721 MedGen:C0027672,SNOMED CT:C0027672 17 43047691 43047691 T C 184873 single nucleotide variant NM_007294.3(BRCA1):c.5396C>T (p.Thr1799Ile) 786201945 MedGen:C0027672,SNOMED CT:C0027672 17 41201148 41201148 G A 184873 single nucleotide variant NM_007294.3(BRCA1):c.5396C>T (p.Thr1799Ile) 786201945 MedGen:C0027672,SNOMED CT:C0027672 17 43049131 43049131 G A 184874 single nucleotide variant NM_007294.3(BRCA1):c.5388A>G (p.Ser1796=) 373810778 MedGen:C0027672,SNOMED CT:C0027672 17 41201156 41201156 T C 184874 single nucleotide variant NM_007294.3(BRCA1):c.5388A>G (p.Ser1796=) 373810778 MedGen:C0027672,SNOMED CT:C0027672 17 43049139 43049139 T C 184875 indel NM_007294.3(BRCA1):c.5359_5363delTGTGGinsAGTGA (p.Cys1787_Gly1788delinsSerAsp) 786203663 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41201181 41201185 CCACA TCACT 184875 indel NM_007294.3(BRCA1):c.5359_5363delTGTGGinsAGTGA (p.Cys1787_Gly1788delinsSerAsp) 786203663 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43049164 43049168 CCACA TCACT 184876 single nucleotide variant NM_007294.3(BRCA1):c.5334T>C (p.Asp1778=) 754152768 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43049193 43049193 A G 184876 single nucleotide variant NM_007294.3(BRCA1):c.5334T>C (p.Asp1778=) 754152768 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41201210 41201210 A G 184877 single nucleotide variant NM_007294.3(BRCA1):c.5328C>T (p.Pro1776=) 759867616 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41203084 41203084 G A 184877 single nucleotide variant NM_007294.3(BRCA1):c.5328C>T (p.Pro1776=) 759867616 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43051067 43051067 G A 184878 single nucleotide variant NM_007294.3(BRCA1):c.5280C>A (p.Ile1760=) 750040616 MedGen:C0027672,SNOMED CT:C0027672 17 41203132 41203132 G T 184878 single nucleotide variant NM_007294.3(BRCA1):c.5280C>A (p.Ile1760=) 750040616 MedGen:C0027672,SNOMED CT:C0027672 17 43051115 43051115 G T 184879 single nucleotide variant NM_007294.3(BRCA1):c.5278-3C>T 786203963 MedGen:C0027672,SNOMED CT:C0027672 17 41203137 41203137 G A 184879 single nucleotide variant NM_007294.3(BRCA1):c.5278-3C>T 786203963 MedGen:C0027672,SNOMED CT:C0027672 17 43051120 43051120 G A 184880 deletion NM_007294.3(BRCA1):c.5269_5273delGACAG (p.Asp1757Lysfs) 786202040 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41209073 41209077 CTGTC - 184880 deletion NM_007294.3(BRCA1):c.5269_5273delGACAG (p.Asp1757Lysfs) 786202040 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43057056 43057060 CTGTC - 184881 single nucleotide variant NM_007294.3(BRCA1):c.5259A>G (p.Arg1753=) 771577266 MedGen:C0027672,SNOMED CT:C0027672 17 41209087 41209087 T C 184881 single nucleotide variant NM_007294.3(BRCA1):c.5259A>G (p.Arg1753=) 771577266 MedGen:C0027672,SNOMED CT:C0027672 17 43057070 43057070 T C 184882 single nucleotide variant NM_007294.3(BRCA1):c.5238C>G (p.His1746Gln) 786202389 MedGen:C0027672,SNOMED CT:C0027672 17 41209108 41209108 G C 184882 single nucleotide variant NM_007294.3(BRCA1):c.5238C>G (p.His1746Gln) 786202389 MedGen:C0027672,SNOMED CT:C0027672 17 43057091 43057091 G C 184883 single nucleotide variant NM_007294.3(BRCA1):c.5177G>T (p.Arg1726Ile) 786203547 MedGen:C0027672,SNOMED CT:C0027672 17 41215366 41215366 C A 184883 single nucleotide variant NM_007294.3(BRCA1):c.5177G>T (p.Arg1726Ile) 786203547 MedGen:C0027672,SNOMED CT:C0027672 17 43063349 43063349 C A 184884 single nucleotide variant NM_007294.3(BRCA1):c.5157G>T (p.Val1719=) 28897697 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41215386 41215386 C A 184884 single nucleotide variant NM_007294.3(BRCA1):c.5157G>T (p.Val1719=) 28897697 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43063369 43063369 C A 184885 single nucleotide variant NM_007294.3(BRCA1):c.5153-2A>G 786202545 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41215392 41215392 T C 184885 single nucleotide variant NM_007294.3(BRCA1):c.5153-2A>G 786202545 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43063375 43063375 T C 184886 single nucleotide variant NM_007294.3(BRCA1):c.5147A>C (p.Tyr1716Ser) 587782456 MedGen:C0027672,SNOMED CT:C0027672 17 41215896 41215896 T G 184886 single nucleotide variant NM_007294.3(BRCA1):c.5147A>C (p.Tyr1716Ser) 587782456 MedGen:C0027672,SNOMED CT:C0027672 17 43063879 43063879 T G 184887 single nucleotide variant NM_007294.3(BRCA1):c.5100A>G (p.Thr1700=) 45519437 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41215943 41215943 T C 184887 single nucleotide variant NM_007294.3(BRCA1):c.5100A>G (p.Thr1700=) 45519437 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43063926 43063926 T C 184888 single nucleotide variant NM_007294.3(BRCA1):c.5094A>G (p.Glu1698=) 764891781 MedGen:C0027672,SNOMED CT:C0027672 17 41215949 41215949 T C 184888 single nucleotide variant NM_007294.3(BRCA1):c.5094A>G (p.Glu1698=) 764891781 MedGen:C0027672,SNOMED CT:C0027672 17 43063932 43063932 T C 184889 single nucleotide variant NM_007294.3(BRCA1):c.5027T>G (p.Leu1676Ter) 786203754 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41219672 41219672 A C 184889 single nucleotide variant NM_007294.3(BRCA1):c.5027T>G (p.Leu1676Ter) 786203754 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43067655 43067655 A C 184890 single nucleotide variant NM_007294.3(BRCA1):c.5022C>T (p.Ile1674=) 786203868 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41219677 41219677 G A 184890 single nucleotide variant NM_007294.3(BRCA1):c.5022C>T (p.Ile1674=) 786203868 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43067660 43067660 G A 184891 single nucleotide variant NM_007294.3(BRCA1):c.4998C>T (p.Tyr1666=) 730882165 MedGen:C0027672,SNOMED CT:C0027672 17 41219701 41219701 G A 184891 single nucleotide variant NM_007294.3(BRCA1):c.4998C>T (p.Tyr1666=) 730882165 MedGen:C0027672,SNOMED CT:C0027672 17 43067684 43067684 G A 184892 single nucleotide variant NM_007294.3(BRCA1):c.4971G>A (p.Leu1657=) 786202058 MedGen:C0027672,SNOMED CT:C0027672 17 41222960 41222960 C T 184892 single nucleotide variant NM_007294.3(BRCA1):c.4971G>A (p.Leu1657=) 786202058 MedGen:C0027672,SNOMED CT:C0027672 17 43070943 43070943 C T 184893 single nucleotide variant NM_007294.3(BRCA1):c.4929A>C (p.Thr1643=) 786202022 MedGen:C0027672,SNOMED CT:C0027672 17 43070985 43070985 T G 184893 single nucleotide variant NM_007294.3(BRCA1):c.4929A>C (p.Thr1643=) 786202022 MedGen:C0027672,SNOMED CT:C0027672 17 41223002 41223002 T G 184894 single nucleotide variant NM_007294.3(BRCA1):c.4914A>G (p.Glu1638=) 786201216 MedGen:C0027672,SNOMED CT:C0027672 17 41223017 41223017 T C 184894 single nucleotide variant NM_007294.3(BRCA1):c.4914A>G (p.Glu1638=) 786201216 MedGen:C0027672,SNOMED CT:C0027672 17 43071000 43071000 T C 184895 single nucleotide variant NM_007294.3(BRCA1):c.4894G>T (p.Val1632Leu) 770193975 MedGen:C0027672,SNOMED CT:C0027672 17 41223037 41223037 C A 184895 single nucleotide variant NM_007294.3(BRCA1):c.4894G>T (p.Val1632Leu) 770193975 MedGen:C0027672,SNOMED CT:C0027672 17 43071020 43071020 C A 184896 single nucleotide variant NM_007294.3(BRCA1):c.4891A>T (p.Ser1631Cys) 786202734 MedGen:C0027672,SNOMED CT:C0027672 17 41223040 41223040 T A 184896 single nucleotide variant NM_007294.3(BRCA1):c.4891A>T (p.Ser1631Cys) 786202734 MedGen:C0027672,SNOMED CT:C0027672 17 43071023 43071023 T A 184897 single nucleotide variant NM_007294.3(BRCA1):c.4865C>G (p.Thr1622Ser) 786202573 MedGen:C0027672,SNOMED CT:C0027672 17 41223066 41223066 G C 184897 single nucleotide variant NM_007294.3(BRCA1):c.4865C>G (p.Thr1622Ser) 786202573 MedGen:C0027672,SNOMED CT:C0027672 17 43071049 43071049 G C 184898 single nucleotide variant NM_007294.3(BRCA1):c.4864A>G (p.Thr1622Ala) 786202026 MedGen:C0027672,SNOMED CT:C0027672 17 41223067 41223067 T C 184898 single nucleotide variant NM_007294.3(BRCA1):c.4864A>G (p.Thr1622Ala) 786202026 MedGen:C0027672,SNOMED CT:C0027672 17 43071050 43071050 T C 184899 single nucleotide variant NM_007294.3(BRCA1):c.4851T>C (p.Ala1617=) 786202627 MedGen:C0027672,SNOMED CT:C0027672 17 41223080 41223080 A G 184899 single nucleotide variant NM_007294.3(BRCA1):c.4851T>C (p.Ala1617=) 786202627 MedGen:C0027672,SNOMED CT:C0027672 17 43071063 43071063 A G 184900 single nucleotide variant NM_007294.3(BRCA1):c.4845T>C (p.Ala1615=) 144588397 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41223086 41223086 A G 184900 single nucleotide variant NM_007294.3(BRCA1):c.4845T>C (p.Ala1615=) 144588397 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43071069 43071069 A G 184901 single nucleotide variant NM_007294.3(BRCA1):c.4836G>C (p.Gln1612His) 747688901 MedGen:C0027672,SNOMED CT:C0027672 17 41223095 41223095 C G 184901 single nucleotide variant NM_007294.3(BRCA1):c.4836G>C (p.Gln1612His) 747688901 MedGen:C0027672,SNOMED CT:C0027672 17 43071078 43071078 C G 184902 single nucleotide variant NM_007294.3(BRCA1):c.4834C>T (p.Gln1612Ter) 786202064 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41223097 41223097 G A 184902 single nucleotide variant NM_007294.3(BRCA1):c.4834C>T (p.Gln1612Ter) 786202064 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43071080 43071080 G A 184903 single nucleotide variant NM_007294.3(BRCA1):c.4813T>A (p.Leu1605Met) 80356833 MedGen:C0027672,SNOMED CT:C0027672 17 41223118 41223118 A T 184903 single nucleotide variant NM_007294.3(BRCA1):c.4813T>A (p.Leu1605Met) 80356833 MedGen:C0027672,SNOMED CT:C0027672 17 43071101 43071101 A T 184904 single nucleotide variant NM_007294.3(BRCA1):c.4776C>G (p.Asn1592Lys) 761925468 MedGen:C0027672,SNOMED CT:C0027672 17 41223155 41223155 G C 184904 single nucleotide variant NM_007294.3(BRCA1):c.4776C>G (p.Asn1592Lys) 761925468 MedGen:C0027672,SNOMED CT:C0027672 17 43071138 43071138 G C 184905 single nucleotide variant NM_007294.3(BRCA1):c.4775A>G (p.Asn1592Ser) 786203699 MedGen:C0027672,SNOMED CT:C0027672 17 41223156 41223156 T C 184905 single nucleotide variant NM_007294.3(BRCA1):c.4775A>G (p.Asn1592Ser) 786203699 MedGen:C0027672,SNOMED CT:C0027672 17 43071139 43071139 T C 184906 single nucleotide variant NM_007294.3(BRCA1):c.4764T>C (p.Ala1588=) 753651115 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41223167 41223167 A G 184906 single nucleotide variant NM_007294.3(BRCA1):c.4764T>C (p.Ala1588=) 753651115 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43071150 43071150 A G 184907 single nucleotide variant NM_007294.3(BRCA1):c.4752C>T (p.Ala1584=) 786201422 MedGen:C0027672,SNOMED CT:C0027672 17 41223179 41223179 G A 184907 single nucleotide variant NM_007294.3(BRCA1):c.4752C>T (p.Ala1584=) 786201422 MedGen:C0027672,SNOMED CT:C0027672 17 43071162 43071162 G A 184908 single nucleotide variant NM_007294.3(BRCA1):c.4743A>G (p.Glu1581=) 397509194 MedGen:C0027672,SNOMED CT:C0027672 17 41223188 41223188 T C 184908 single nucleotide variant NM_007294.3(BRCA1):c.4743A>G (p.Glu1581=) 397509194 MedGen:C0027672,SNOMED CT:C0027672 17 43071171 43071171 T C 184909 single nucleotide variant NM_007294.3(BRCA1):c.4710C>T (p.Leu1570=) 786201839 MedGen:C0027672,SNOMED CT:C0027672 17 41223221 41223221 G A 184909 single nucleotide variant NM_007294.3(BRCA1):c.4710C>T (p.Leu1570=) 786201839 MedGen:C0027672,SNOMED CT:C0027672 17 43071204 43071204 G A 184910 single nucleotide variant NM_007294.3(BRCA1):c.4675+3A>G 80358082 MedGen:C0027672,SNOMED CT:C0027672 17 43074328 43074328 T C 184910 single nucleotide variant NM_007294.3(BRCA1):c.4675+3A>G 80358082 MedGen:C0027672,SNOMED CT:C0027672 17 41226345 41226345 T C 184911 single nucleotide variant NM_007294.3(BRCA1):c.4675+1G>T 80358044 MedGen:C0027672,SNOMED CT:C0027672 17 41226347 41226347 C A 184911 single nucleotide variant NM_007294.3(BRCA1):c.4675+1G>T 80358044 MedGen:C0027672,SNOMED CT:C0027672 17 43074330 43074330 C A 184912 single nucleotide variant NM_007294.3(BRCA1):c.4664G>A (p.Arg1555Lys) 786202165 MedGen:C0027672,SNOMED CT:C0027672 17 41226359 41226359 C T 184912 single nucleotide variant NM_007294.3(BRCA1):c.4664G>A (p.Arg1555Lys) 786202165 MedGen:C0027672,SNOMED CT:C0027672 17 43074342 43074342 C T 184913 single nucleotide variant NM_007294.3(BRCA1):c.4644G>A (p.Thr1548=) 28897692 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41226379 41226379 C T 184913 single nucleotide variant NM_007294.3(BRCA1):c.4644G>A (p.Thr1548=) 28897692 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43074362 43074362 C T 184914 single nucleotide variant NM_007294.3(BRCA1):c.4626T>C (p.Ser1542=) 786202425 MedGen:C0027672,SNOMED CT:C0027672 17 41226397 41226397 A G 184914 single nucleotide variant NM_007294.3(BRCA1):c.4626T>C (p.Ser1542=) 786202425 MedGen:C0027672,SNOMED CT:C0027672 17 43074380 43074380 A G 184915 single nucleotide variant NM_007294.3(BRCA1):c.4594G>A (p.Val1532Ile) 786201658 MedGen:C0027672,SNOMED CT:C0027672 17 41226429 41226429 C T 184915 single nucleotide variant NM_007294.3(BRCA1):c.4594G>A (p.Val1532Ile) 786201658 MedGen:C0027672,SNOMED CT:C0027672 17 43074412 43074412 C T 184916 single nucleotide variant NM_007294.3(BRCA1):c.4574A>G (p.Gln1525Arg) 786203386 MedGen:C0027672,SNOMED CT:C0027672 17 41226449 41226449 T C 184916 single nucleotide variant NM_007294.3(BRCA1):c.4574A>G (p.Gln1525Arg) 786203386 MedGen:C0027672,SNOMED CT:C0027672 17 43074432 43074432 T C 184917 single nucleotide variant NM_007294.3(BRCA1):c.4554G>A (p.Gln1518=) 786202635 MedGen:C0027672,SNOMED CT:C0027672 17 41226469 41226469 C T 184917 single nucleotide variant NM_007294.3(BRCA1):c.4554G>A (p.Gln1518=) 786202635 MedGen:C0027672,SNOMED CT:C0027672 17 43074452 43074452 C T 184918 single nucleotide variant NM_007294.3(BRCA1):c.4545G>T (p.Gly1515=) 755731300 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41226478 41226478 C A 184918 single nucleotide variant NM_007294.3(BRCA1):c.4545G>T (p.Gly1515=) 755731300 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43074461 43074461 C A 184919 single nucleotide variant NM_007294.3(BRCA1):c.4523G>A (p.Trp1508Ter) 786202631 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41226500 41226500 C T 184919 single nucleotide variant NM_007294.3(BRCA1):c.4523G>A (p.Trp1508Ter) 786202631 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43074483 43074483 C T 184920 single nucleotide variant NM_007294.3(BRCA1):c.4505C>A (p.Pro1502Gln) 56335406 MedGen:C0027672,SNOMED CT:C0027672 17 41226518 41226518 G T 184920 single nucleotide variant NM_007294.3(BRCA1):c.4505C>A (p.Pro1502Gln) 56335406 MedGen:C0027672,SNOMED CT:C0027672 17 43074501 43074501 G T 184921 single nucleotide variant NM_007294.3(BRCA1):c.4435G>C (p.Val1479Leu) 786203524 MedGen:C0027672,SNOMED CT:C0027672 17 41228554 41228554 C G 184921 single nucleotide variant NM_007294.3(BRCA1):c.4435G>C (p.Val1479Leu) 786203524 MedGen:C0027672,SNOMED CT:C0027672 17 43076537 43076537 C G 184922 single nucleotide variant NM_007294.3(BRCA1):c.4422T>C (p.Ala1474=) 756281673 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41228567 41228567 A G 184922 single nucleotide variant NM_007294.3(BRCA1):c.4422T>C (p.Ala1474=) 756281673 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43076550 43076550 A G 184923 single nucleotide variant NM_007294.3(BRCA1):c.4380T>C (p.Ser1460=) 786203100 MedGen:C0027672,SNOMED CT:C0027672 17 41228609 41228609 A G 184923 single nucleotide variant NM_007294.3(BRCA1):c.4380T>C (p.Ser1460=) 786203100 MedGen:C0027672,SNOMED CT:C0027672 17 43076592 43076592 A G 184924 deletion NM_007294.3(BRCA1):c.4379delG (p.Ser1460Ilefs) 786203149 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41228610 41228610 C - 184924 deletion NM_007294.3(BRCA1):c.4379delG (p.Ser1460Ilefs) 786203149 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43076593 43076593 C - 184925 single nucleotide variant NM_007294.3(BRCA1):c.4366A>G (p.Thr1456Ala) 786201835 MedGen:C0027672,SNOMED CT:C0027672 17 41228623 41228623 T C 184925 single nucleotide variant NM_007294.3(BRCA1):c.4366A>G (p.Thr1456Ala) 786201835 MedGen:C0027672,SNOMED CT:C0027672 17 43076606 43076606 T C 184926 single nucleotide variant NM_007294.3(BRCA1):c.4353A>G (p.Glu1451=) 786202387 MedGen:C0027672,SNOMED CT:C0027672 17 41234425 41234425 T C 184926 single nucleotide variant NM_007294.3(BRCA1):c.4353A>G (p.Glu1451=) 786202387 MedGen:C0027672,SNOMED CT:C0027672 17 43082408 43082408 T C 184927 single nucleotide variant NM_007294.3(BRCA1):c.4319A>G (p.Glu1440Gly) 786202288 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41234459 41234459 T C 184927 single nucleotide variant NM_007294.3(BRCA1):c.4319A>G (p.Glu1440Gly) 786202288 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43082442 43082442 T C 184928 single nucleotide variant NM_007294.3(BRCA1):c.4305C>T (p.Asp1435=) 730881445 MedGen:C0027672,SNOMED CT:C0027672 17 41234473 41234473 G A 184928 single nucleotide variant NM_007294.3(BRCA1):c.4305C>T (p.Asp1435=) 730881445 MedGen:C0027672,SNOMED CT:C0027672 17 43082456 43082456 G A 184929 single nucleotide variant NM_007294.3(BRCA1):c.4297A>G (p.Ile1433Val) 541512953 MedGen:C0027672,SNOMED CT:C0027672 17 41234481 41234481 T C 184929 single nucleotide variant NM_007294.3(BRCA1):c.4297A>G (p.Ile1433Val) 541512953 MedGen:C0027672,SNOMED CT:C0027672 17 43082464 43082464 T C 184930 single nucleotide variant NM_007294.3(BRCA1):c.4269C>T (p.Ser1423=) 786202278 MedGen:C0027672,SNOMED CT:C0027672 17 41234509 41234509 G A 184930 single nucleotide variant NM_007294.3(BRCA1):c.4269C>T (p.Ser1423=) 786202278 MedGen:C0027672,SNOMED CT:C0027672 17 43082492 43082492 G A 184931 single nucleotide variant NM_007294.3(BRCA1):c.4227G>A (p.Gln1409=) 786201618 MedGen:C0027672,SNOMED CT:C0027672 17 41234551 41234551 C T 184931 single nucleotide variant NM_007294.3(BRCA1):c.4227G>A (p.Gln1409=) 786201618 MedGen:C0027672,SNOMED CT:C0027672 17 43082534 43082534 C T 184932 single nucleotide variant NM_007294.3(BRCA1):c.4209C>T (p.Asn1403=) 786201224 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41234569 41234569 G A 184932 single nucleotide variant NM_007294.3(BRCA1):c.4209C>T (p.Asn1403=) 786201224 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43082552 43082552 G A 184933 single nucleotide variant NM_007294.3(BRCA1):c.4185+1G>A 80358076 MedGen:C0027672,SNOMED CT:C0027672 17 41242960 41242960 C T 184933 single nucleotide variant NM_007294.3(BRCA1):c.4185+1G>A 80358076 MedGen:C0027672,SNOMED CT:C0027672 17 43090943 43090943 C T 184934 single nucleotide variant NM_007294.3(BRCA1):c.4151G>A (p.Gly1384Glu) 786203545 MedGen:C0027672,SNOMED CT:C0027672 17 41242995 41242995 C T 184934 single nucleotide variant NM_007294.3(BRCA1):c.4151G>A (p.Gly1384Glu) 786203545 MedGen:C0027672,SNOMED CT:C0027672 17 43090978 43090978 C T 184935 single nucleotide variant NM_007294.3(BRCA1):c.4144T>A (p.Cys1382Ser) 786202106 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41243002 41243002 A T 184935 single nucleotide variant NM_007294.3(BRCA1):c.4144T>A (p.Cys1382Ser) 786202106 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43090985 43090985 A T 184936 single nucleotide variant NM_007294.3(BRCA1):c.4131C>T (p.Ser1377=) 80356871 MedGen:C0027672,SNOMED CT:C0027672 17 41243015 41243015 G A 184936 single nucleotide variant NM_007294.3(BRCA1):c.4131C>T (p.Ser1377=) 80356871 MedGen:C0027672,SNOMED CT:C0027672 17 43090998 43090998 G A 184937 single nucleotide variant NM_007294.3(BRCA1):c.4111G>C (p.Gly1371Arg) 774593602 MedGen:C0027672,SNOMED CT:C0027672 17 41243035 41243035 C G 184937 single nucleotide variant NM_007294.3(BRCA1):c.4111G>C (p.Gly1371Arg) 774593602 MedGen:C0027672,SNOMED CT:C0027672 17 43091018 43091018 C G 184938 single nucleotide variant NM_007294.3(BRCA1):c.4099G>T (p.Glu1367Ter) 786202998 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41243047 41243047 C A 184938 single nucleotide variant NM_007294.3(BRCA1):c.4099G>T (p.Glu1367Ter) 786202998 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43091030 43091030 C A 184939 single nucleotide variant NM_007294.3(BRCA1):c.4092C>T (p.Asn1364=) 786201566 MedGen:C0027672,SNOMED CT:C0027672 17 41243456 41243456 G A 184939 single nucleotide variant NM_007294.3(BRCA1):c.4092C>T (p.Asn1364=) 786201566 MedGen:C0027672,SNOMED CT:C0027672 17 43091439 43091439 G A 184940 single nucleotide variant NM_007294.3(BRCA1):c.4081A>G (p.Met1361Val) 80357218 MedGen:C0027672,SNOMED CT:C0027672 17 41243467 41243467 T C 184940 single nucleotide variant NM_007294.3(BRCA1):c.4081A>G (p.Met1361Val) 80357218 MedGen:C0027672,SNOMED CT:C0027672 17 43091450 43091450 T C 184941 single nucleotide variant NM_007294.3(BRCA1):c.4071A>G (p.Glu1357=) 786201475 MedGen:C0027672,SNOMED CT:C0027672 17 41243477 41243477 T C 184941 single nucleotide variant NM_007294.3(BRCA1):c.4071A>G (p.Glu1357=) 786201475 MedGen:C0027672,SNOMED CT:C0027672 17 43091460 43091460 T C 184942 single nucleotide variant NM_007294.3(BRCA1):c.4018T>C (p.Leu1340=) 786201646 MedGen:C0027672,SNOMED CT:C0027672 17 41243530 41243530 A G 184942 single nucleotide variant NM_007294.3(BRCA1):c.4018T>C (p.Leu1340=) 786201646 MedGen:C0027672,SNOMED CT:C0027672 17 43091513 43091513 A G 184943 single nucleotide variant NM_007294.3(BRCA1):c.3993G>A (p.Gln1331=) 70953658 MedGen:C0027672,SNOMED CT:C0027672 17 43091538 43091538 C T 184943 single nucleotide variant NM_007294.3(BRCA1):c.3993G>A (p.Gln1331=) 70953658 MedGen:C0027672,SNOMED CT:C0027672 17 41243555 41243555 C T 184944 single nucleotide variant NM_007294.3(BRCA1):c.3965A>C (p.Lys1322Thr) 80357042 MedGen:C0027672,SNOMED CT:C0027672 17 41243583 41243583 T G 184944 single nucleotide variant NM_007294.3(BRCA1):c.3965A>C (p.Lys1322Thr) 80357042 MedGen:C0027672,SNOMED CT:C0027672 17 43091566 43091566 T G 184945 single nucleotide variant NM_007294.3(BRCA1):c.3918G>C (p.Leu1306Phe) 786202068 MedGen:C0027672,SNOMED CT:C0027672 17 41243630 41243630 C G 184945 single nucleotide variant NM_007294.3(BRCA1):c.3918G>C (p.Leu1306Phe) 786202068 MedGen:C0027672,SNOMED CT:C0027672 17 43091613 43091613 C G 184946 single nucleotide variant NM_007294.3(BRCA1):c.3901A>G (p.Ser1301Gly) 786203580 MedGen:C0027672,SNOMED CT:C0027672 17 41243647 41243647 T C 184946 single nucleotide variant NM_007294.3(BRCA1):c.3901A>G (p.Ser1301Gly) 786203580 MedGen:C0027672,SNOMED CT:C0027672 17 43091630 43091630 T C 184947 single nucleotide variant NM_007294.3(BRCA1):c.3874T>C (p.Ser1292Pro) 786203823 MedGen:C0027672,SNOMED CT:C0027672 17 41243674 41243674 A G 184947 single nucleotide variant NM_007294.3(BRCA1):c.3874T>C (p.Ser1292Pro) 786203823 MedGen:C0027672,SNOMED CT:C0027672 17 43091657 43091657 A G 184948 single nucleotide variant NM_007294.3(BRCA1):c.3857G>C (p.Ser1286Thr) 142383077 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41243691 41243691 C G 184948 single nucleotide variant NM_007294.3(BRCA1):c.3857G>C (p.Ser1286Thr) 142383077 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43091674 43091674 C G 184949 single nucleotide variant NM_007294.3(BRCA1):c.3816C>A (p.Asn1272Lys) 786201893 MedGen:C0027672,SNOMED CT:C0027672 17 41243732 41243732 G T 184949 single nucleotide variant NM_007294.3(BRCA1):c.3816C>A (p.Asn1272Lys) 786201893 MedGen:C0027672,SNOMED CT:C0027672 17 43091715 43091715 G T 184950 single nucleotide variant NM_007294.3(BRCA1):c.3807C>T (p.Asp1269=) 786202569 MedGen:C0027672,SNOMED CT:C0027672 17 41243741 41243741 G A 184950 single nucleotide variant NM_007294.3(BRCA1):c.3807C>T (p.Asp1269=) 786202569 MedGen:C0027672,SNOMED CT:C0027672 17 43091724 43091724 G A 184951 single nucleotide variant NM_007294.3(BRCA1):c.3807C>G (p.Asp1269Glu) 786202569 MedGen:C0027672,SNOMED CT:C0027672 17 41243741 41243741 G C 184951 single nucleotide variant NM_007294.3(BRCA1):c.3807C>G (p.Asp1269Glu) 786202569 MedGen:C0027672,SNOMED CT:C0027672 17 43091724 43091724 G C 184952 single nucleotide variant NM_007294.3(BRCA1):c.3804T>G (p.Asn1268Lys) 140588714 MedGen:C0027672,SNOMED CT:C0027672 17 41243744 41243744 A C 184952 single nucleotide variant NM_007294.3(BRCA1):c.3804T>G (p.Asn1268Lys) 140588714 MedGen:C0027672,SNOMED CT:C0027672 17 43091727 43091727 A C 184953 single nucleotide variant NM_007294.3(BRCA1):c.3768A>G (p.Thr1256=) 786202803 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41243780 41243780 T C 184953 single nucleotide variant NM_007294.3(BRCA1):c.3768A>G (p.Thr1256=) 786202803 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43091763 43091763 T C 184954 single nucleotide variant NM_007294.3(BRCA1):c.3758C>G (p.Ser1253Cys) 397509100 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41243790 41243790 G C 184954 single nucleotide variant NM_007294.3(BRCA1):c.3758C>G (p.Ser1253Cys) 397509100 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43091773 43091773 G C 184955 single nucleotide variant NM_007294.3(BRCA1):c.3699A>G (p.Lys1233=) 368690455 MedGen:C0027672,SNOMED CT:C0027672 17 41243849 41243849 T C 184955 single nucleotide variant NM_007294.3(BRCA1):c.3699A>G (p.Lys1233=) 368690455 MedGen:C0027672,SNOMED CT:C0027672 17 43091832 43091832 T C 184956 single nucleotide variant NM_007294.3(BRCA1):c.3688T>C (p.Leu1230=) 786201581 MedGen:C0027672,SNOMED CT:C0027672 17 41243860 41243860 A G 184956 single nucleotide variant NM_007294.3(BRCA1):c.3688T>C (p.Leu1230=) 786201581 MedGen:C0027672,SNOMED CT:C0027672 17 43091843 43091843 A G 184957 single nucleotide variant NM_007294.3(BRCA1):c.3684C>T (p.His1228=) 786201623 MedGen:C0027672,SNOMED CT:C0027672 17 41243864 41243864 G A 184957 single nucleotide variant NM_007294.3(BRCA1):c.3684C>T (p.His1228=) 786201623 MedGen:C0027672,SNOMED CT:C0027672 17 43091847 43091847 G A 184958 deletion NM_007294.3(BRCA1):c.3658delG (p.Asp1220Metfs) 786202963 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41243890 41243890 C - 184958 deletion NM_007294.3(BRCA1):c.3658delG (p.Asp1220Metfs) 786202963 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43091873 43091873 C - 184959 single nucleotide variant NM_007294.3(BRCA1):c.3644A>G (p.Asn1215Ser) 786203310 MedGen:C0027672,SNOMED CT:C0027672 17 41243904 41243904 T C 184959 single nucleotide variant NM_007294.3(BRCA1):c.3644A>G (p.Asn1215Ser) 786203310 MedGen:C0027672,SNOMED CT:C0027672 17 43091887 43091887 T C 184960 single nucleotide variant NM_007294.3(BRCA1):c.3626T>G (p.Leu1209Ter) 786203884 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41243922 41243922 A C 184960 single nucleotide variant NM_007294.3(BRCA1):c.3626T>G (p.Leu1209Ter) 786203884 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43091905 43091905 A C 184961 single nucleotide variant NM_007294.3(BRCA1):c.3615G>A (p.Gly1205=) 750113197 MedGen:C0027672,SNOMED CT:C0027672 17 41243933 41243933 C T 184961 single nucleotide variant NM_007294.3(BRCA1):c.3615G>A (p.Gly1205=) 750113197 MedGen:C0027672,SNOMED CT:C0027672 17 43091916 43091916 C T 184962 single nucleotide variant NM_007294.3(BRCA1):c.3582C>T (p.Thr1194=) 786202722 MedGen:C0027672,SNOMED CT:C0027672 17 41243966 41243966 G A 184962 single nucleotide variant NM_007294.3(BRCA1):c.3582C>T (p.Thr1194=) 786202722 MedGen:C0027672,SNOMED CT:C0027672 17 43091949 43091949 G A 184963 single nucleotide variant NM_007294.3(BRCA1):c.3513G>A (p.Lys1171=) 786202844 MedGen:C0027672,SNOMED CT:C0027672 17 41244035 41244035 C T 184963 single nucleotide variant NM_007294.3(BRCA1):c.3513G>A (p.Lys1171=) 786202844 MedGen:C0027672,SNOMED CT:C0027672 17 43092018 43092018 C T 184964 deletion NM_007294.3(BRCA1):c.3478_3487delAAGGAAGATA (p.Lys1160Leufs) 786203694 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41244061 41244070 TATCTTCCTT - 184964 deletion NM_007294.3(BRCA1):c.3478_3487delAAGGAAGATA (p.Lys1160Leufs) 786203694 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43092044 43092053 TATCTTCCTT - 184965 single nucleotide variant NM_007294.3(BRCA1):c.3481G>T (p.Glu1161Ter) 786203438 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41244067 41244067 C A 184965 single nucleotide variant NM_007294.3(BRCA1):c.3481G>T (p.Glu1161Ter) 786203438 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43092050 43092050 C A 184966 single nucleotide variant NM_007294.3(BRCA1):c.3435T>C (p.Val1145=) 786201222 MedGen:C0027672,SNOMED CT:C0027672 17 41244113 41244113 A G 184966 single nucleotide variant NM_007294.3(BRCA1):c.3435T>C (p.Val1145=) 786201222 MedGen:C0027672,SNOMED CT:C0027672 17 43092096 43092096 A G 184967 single nucleotide variant NM_007294.3(BRCA1):c.3432G>A (p.Gln1144=) 80356922 MedGen:C0027672,SNOMED CT:C0027672 17 41244116 41244116 C T 184967 single nucleotide variant NM_007294.3(BRCA1):c.3432G>A (p.Gln1144=) 80356922 MedGen:C0027672,SNOMED CT:C0027672 17 43092099 43092099 C T 184968 single nucleotide variant NM_007294.3(BRCA1):c.3428C>G (p.Ser1143Cys) 80357434 MedGen:C0027672,SNOMED CT:C0027672 17 41244120 41244120 G C 184968 single nucleotide variant NM_007294.3(BRCA1):c.3428C>G (p.Ser1143Cys) 80357434 MedGen:C0027672,SNOMED CT:C0027672 17 43092103 43092103 G C 184969 single nucleotide variant NM_007294.3(BRCA1):c.3411G>A (p.Met1137Ile) 786202900 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41244137 41244137 C T 184969 single nucleotide variant NM_007294.3(BRCA1):c.3411G>A (p.Met1137Ile) 786202900 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43092120 43092120 C T 184970 single nucleotide variant NM_007294.3(BRCA1):c.3394A>G (p.Asn1132Asp) 530464947 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41244154 41244154 T C 184970 single nucleotide variant NM_007294.3(BRCA1):c.3394A>G (p.Asn1132Asp) 530464947 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43092137 43092137 T C 184971 indel NM_007294.3(BRCA1):c.3392_3393delATinsTA (p.Asp1131Val) 786203428 MedGen:C0027672,SNOMED CT:C0027672 17 41244155 41244156 AT TA 184971 indel NM_007294.3(BRCA1):c.3392_3393delATinsTA (p.Asp1131Val) 786203428 MedGen:C0027672,SNOMED CT:C0027672 17 43092138 43092139 AT TA 184972 single nucleotide variant NM_007294.3(BRCA1):c.3372C>T (p.Phe1124=) 786203431 MedGen:C0027672,SNOMED CT:C0027672 17 41244176 41244176 G A 184972 single nucleotide variant NM_007294.3(BRCA1):c.3372C>T (p.Phe1124=) 786203431 MedGen:C0027672,SNOMED CT:C0027672 17 43092159 43092159 G A 184973 single nucleotide variant NM_007294.3(BRCA1):c.3358G>A (p.Val1120Ile) 748894760 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244190 41244190 C T 184973 single nucleotide variant NM_007294.3(BRCA1):c.3358G>A (p.Val1120Ile) 748894760 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092173 43092173 C T 184974 single nucleotide variant NM_007294.3(BRCA1):c.3347T>G (p.Val1116Gly) 786203153 MedGen:C0027672,SNOMED CT:C0027672 17 41244201 41244201 A C 184974 single nucleotide variant NM_007294.3(BRCA1):c.3347T>G (p.Val1116Gly) 786203153 MedGen:C0027672,SNOMED CT:C0027672 17 43092184 43092184 A C 184975 deletion NM_007294.3(BRCA1):c.3323_3324delTA (p.Ile1108Lysfs) 786202791 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41244224 41244225 TA - 184975 deletion NM_007294.3(BRCA1):c.3323_3324delTA (p.Ile1108Lysfs) 786202791 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43092207 43092208 TA - 184976 single nucleotide variant NM_007294.3(BRCA1):c.3270A>G (p.Gln1090=) 369925993 MedGen:C0027672,SNOMED CT:C0027672 17 41244278 41244278 T C 184976 single nucleotide variant NM_007294.3(BRCA1):c.3270A>G (p.Gln1090=) 369925993 MedGen:C0027672,SNOMED CT:C0027672 17 43092261 43092261 T C 185122 single nucleotide variant NM_007294.3(BRCA1):c.217C>T (p.Leu73=) 786201203 MedGen:C0027672,SNOMED CT:C0027672 17 41256969 41256969 G A 184977 single nucleotide variant NM_007294.3(BRCA1):c.3248T>C (p.Met1083Thr) 786203958 MedGen:C0027672,SNOMED CT:C0027672 17 41244300 41244300 A G 184977 single nucleotide variant NM_007294.3(BRCA1):c.3248T>C (p.Met1083Thr) 786203958 MedGen:C0027672,SNOMED CT:C0027672 17 43092283 43092283 A G 184978 single nucleotide variant NM_007294.3(BRCA1):c.3247A>G (p.Met1083Val) 397507213 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244301 41244301 T C 184978 single nucleotide variant NM_007294.3(BRCA1):c.3247A>G (p.Met1083Val) 397507213 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092284 43092284 T C 184979 single nucleotide variant NM_007294.3(BRCA1):c.3238T>C (p.Leu1080=) 754597283 MedGen:C0027672,SNOMED CT:C0027672 17 41244310 41244310 A G 184979 single nucleotide variant NM_007294.3(BRCA1):c.3238T>C (p.Leu1080=) 754597283 MedGen:C0027672,SNOMED CT:C0027672 17 43092293 43092293 A G 184980 single nucleotide variant NM_007294.3(BRCA1):c.3221G>C (p.Arg1074Thr) 786202155 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41244327 41244327 C G 184980 single nucleotide variant NM_007294.3(BRCA1):c.3221G>C (p.Arg1074Thr) 786202155 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43092310 43092310 C G 184981 single nucleotide variant NM_007294.3(BRCA1):c.3211G>A (p.Glu1071Lys) 41293445 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244337 41244337 C T 184981 single nucleotide variant NM_007294.3(BRCA1):c.3211G>A (p.Glu1071Lys) 41293445 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092320 43092320 C T 184982 single nucleotide variant NM_007294.3(BRCA1):c.3157G>T (p.Glu1053Ter) 786203587 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41244391 41244391 C A 184982 single nucleotide variant NM_007294.3(BRCA1):c.3157G>T (p.Glu1053Ter) 786203587 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43092374 43092374 C A 184983 single nucleotide variant NM_007294.3(BRCA1):c.3091A>T (p.Ile1031Phe) 786203979 MedGen:C0027672,SNOMED CT:C0027672 17 41244457 41244457 T A 184983 single nucleotide variant NM_007294.3(BRCA1):c.3091A>T (p.Ile1031Phe) 786203979 MedGen:C0027672,SNOMED CT:C0027672 17 43092440 43092440 T A 184984 single nucleotide variant NM_007294.3(BRCA1):c.3083G>T (p.Arg1028Leu) 80357459 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41244465 41244465 C A 184984 single nucleotide variant NM_007294.3(BRCA1):c.3083G>T (p.Arg1028Leu) 80357459 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43092448 43092448 C A 184985 single nucleotide variant NM_007294.3(BRCA1):c.3075A>C (p.Thr1025=) 786201258 MedGen:C0027672,SNOMED CT:C0027672 17 41244473 41244473 T G 184985 single nucleotide variant NM_007294.3(BRCA1):c.3075A>C (p.Thr1025=) 786201258 MedGen:C0027672,SNOMED CT:C0027672 17 43092456 43092456 T G 184986 single nucleotide variant NM_007294.3(BRCA1):c.3071G>A (p.Ser1024Asn) 757579891 MedGen:C0027672,SNOMED CT:C0027672 17 41244477 41244477 C T 184986 single nucleotide variant NM_007294.3(BRCA1):c.3071G>A (p.Ser1024Asn) 757579891 MedGen:C0027672,SNOMED CT:C0027672 17 43092460 43092460 C T 184987 deletion NM_007294.3(BRCA1):c.3066delA (p.Val1023Terfs) 786202906 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41244482 41244482 T - 184987 deletion NM_007294.3(BRCA1):c.3066delA (p.Val1023Terfs) 786202906 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43092465 43092465 T - 184988 single nucleotide variant NM_007294.3(BRCA1):c.3065C>T (p.Thr1022Ile) 786202070 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41244483 41244483 G A 184988 single nucleotide variant NM_007294.3(BRCA1):c.3065C>T (p.Thr1022Ile) 786202070 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43092466 43092466 G A 184989 single nucleotide variant NM_007294.3(BRCA1):c.3060A>G (p.Pro1020=) 781435355 MedGen:C0027672,SNOMED CT:C0027672 17 41244488 41244488 T C 184989 single nucleotide variant NM_007294.3(BRCA1):c.3060A>G (p.Pro1020=) 781435355 MedGen:C0027672,SNOMED CT:C0027672 17 43092471 43092471 T C 184990 single nucleotide variant NM_007294.3(BRCA1):c.3012G>A (p.Glu1004=) 786201784 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244536 41244536 C T 184990 single nucleotide variant NM_007294.3(BRCA1):c.3012G>A (p.Glu1004=) 786201784 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092519 43092519 C T 184991 single nucleotide variant NM_007294.3(BRCA1):c.3010G>C (p.Glu1004Gln) 786202534 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41244538 41244538 C G 184991 single nucleotide variant NM_007294.3(BRCA1):c.3010G>C (p.Glu1004Gln) 786202534 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43092521 43092521 C G 184992 single nucleotide variant NM_007294.3(BRCA1):c.3009T>C (p.Phe1003=) 786201587 MedGen:C0027672,SNOMED CT:C0027672 17 41244539 41244539 A G 184992 single nucleotide variant NM_007294.3(BRCA1):c.3009T>C (p.Phe1003=) 786201587 MedGen:C0027672,SNOMED CT:C0027672 17 43092522 43092522 A G 184993 single nucleotide variant NM_007294.3(BRCA1):c.3004A>G (p.Asn1002Asp) 786202665 MedGen:C0027672,SNOMED CT:C0027672 17 41244544 41244544 T C 184993 single nucleotide variant NM_007294.3(BRCA1):c.3004A>G (p.Asn1002Asp) 786202665 MedGen:C0027672,SNOMED CT:C0027672 17 43092527 43092527 T C 184994 single nucleotide variant NM_007294.3(BRCA1):c.2987A>G (p.Lys996Arg) 786202898 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41244561 41244561 T C 184994 single nucleotide variant NM_007294.3(BRCA1):c.2987A>G (p.Lys996Arg) 786202898 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43092544 43092544 T C 184995 single nucleotide variant NM_007294.3(BRCA1):c.2979A>G (p.Lys993=) 772854836 MedGen:C0027672,SNOMED CT:C0027672 17 41244569 41244569 T C 184995 single nucleotide variant NM_007294.3(BRCA1):c.2979A>G (p.Lys993=) 772854836 MedGen:C0027672,SNOMED CT:C0027672 17 43092552 43092552 T C 184996 single nucleotide variant NM_007294.3(BRCA1):c.2920T>C (p.Leu974=) 763845063 MedGen:C0027672,SNOMED CT:C0027672 17 43092611 43092611 A G 184996 single nucleotide variant NM_007294.3(BRCA1):c.2920T>C (p.Leu974=) 763845063 MedGen:C0027672,SNOMED CT:C0027672 17 41244628 41244628 A G 184997 single nucleotide variant NM_007294.3(BRCA1):c.2913T>C (p.His971=) 786203804 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41244635 41244635 A G 184997 single nucleotide variant NM_007294.3(BRCA1):c.2913T>C (p.His971=) 786203804 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43092618 43092618 A G 184998 single nucleotide variant NM_007294.3(BRCA1):c.2898T>C (p.Ile966=) 786202249 MedGen:C0027672,SNOMED CT:C0027672 17 41244650 41244650 A G 184998 single nucleotide variant NM_007294.3(BRCA1):c.2898T>C (p.Ile966=) 786202249 MedGen:C0027672,SNOMED CT:C0027672 17 43092633 43092633 A G 184999 single nucleotide variant NM_007294.3(BRCA1):c.2883C>T (p.Asn961=) 201190540 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41244665 41244665 G A 184999 single nucleotide variant NM_007294.3(BRCA1):c.2883C>T (p.Asn961=) 201190540 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43092648 43092648 G A 185000 single nucleotide variant NM_007294.3(BRCA1):c.2881A>C (p.Asn961His) 786203786 MedGen:C0027672,SNOMED CT:C0027672 17 41244667 41244667 T G 185000 single nucleotide variant NM_007294.3(BRCA1):c.2881A>C (p.Asn961His) 786203786 MedGen:C0027672,SNOMED CT:C0027672 17 43092650 43092650 T G 185001 single nucleotide variant NM_007294.3(BRCA1):c.2872T>C (p.Phe958Leu) 80356878 MedGen:C0027672,SNOMED CT:C0027672 17 41244676 41244676 A G 185001 single nucleotide variant NM_007294.3(BRCA1):c.2872T>C (p.Phe958Leu) 80356878 MedGen:C0027672,SNOMED CT:C0027672 17 43092659 43092659 A G 185002 single nucleotide variant NM_007294.3(BRCA1):c.2862A>G (p.Leu954=) 559190752 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41244686 41244686 T C 185002 single nucleotide variant NM_007294.3(BRCA1):c.2862A>G (p.Leu954=) 559190752 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43092669 43092669 T C 185003 single nucleotide variant NM_007294.3(BRCA1):c.2862A>C (p.Leu954=) 559190752 MedGen:C0027672,SNOMED CT:C0027672 17 41244686 41244686 T G 185003 single nucleotide variant NM_007294.3(BRCA1):c.2862A>C (p.Leu954=) 559190752 MedGen:C0027672,SNOMED CT:C0027672 17 43092669 43092669 T G 185004 single nucleotide variant NM_007294.3(BRCA1):c.2775C>T (p.Ile925=) 786201104 MedGen:C0027672,SNOMED CT:C0027672 17 41244773 41244773 G A 185004 single nucleotide variant NM_007294.3(BRCA1):c.2775C>T (p.Ile925=) 786201104 MedGen:C0027672,SNOMED CT:C0027672 17 43092756 43092756 G A 185005 single nucleotide variant NM_007294.3(BRCA1):c.2773A>G (p.Ile925Val) 4986847 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41244775 41244775 T C 185005 single nucleotide variant NM_007294.3(BRCA1):c.2773A>G (p.Ile925Val) 4986847 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43092758 43092758 T C 185006 single nucleotide variant NM_007294.3(BRCA1):c.2765C>T (p.Thr922Ile) 80357460 MedGen:C0027672,SNOMED CT:C0027672 17 41244783 41244783 G A 185006 single nucleotide variant NM_007294.3(BRCA1):c.2765C>T (p.Thr922Ile) 80357460 MedGen:C0027672,SNOMED CT:C0027672 17 43092766 43092766 G A 185007 single nucleotide variant NM_007294.3(BRCA1):c.2706A>G (p.Glu902=) 398122665 MedGen:C0027672,SNOMED CT:C0027672 17 41244842 41244842 T C 185007 single nucleotide variant NM_007294.3(BRCA1):c.2706A>G (p.Glu902=) 398122665 MedGen:C0027672,SNOMED CT:C0027672 17 43092825 43092825 T C 185008 single nucleotide variant NM_007294.3(BRCA1):c.2670G>T (p.Gly890=) 786201677 MedGen:C0027672,SNOMED CT:C0027672 17 41244878 41244878 C A 185008 single nucleotide variant NM_007294.3(BRCA1):c.2670G>T (p.Gly890=) 786201677 MedGen:C0027672,SNOMED CT:C0027672 17 43092861 43092861 C A 185009 single nucleotide variant NM_007294.3(BRCA1):c.2666C>T (p.Ser889Phe) 769712441 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41244882 41244882 G A 185009 single nucleotide variant NM_007294.3(BRCA1):c.2666C>T (p.Ser889Phe) 769712441 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43092865 43092865 G A 185010 duplication NM_007294.3(BRCA1):c.2654dupT (p.Ser886Leufs) 786203592 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41244894 41244894 A AA 185010 duplication NM_007294.3(BRCA1):c.2654dupT (p.Ser886Leufs) 786203592 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43092877 43092877 A AA 185011 single nucleotide variant NM_007294.3(BRCA1):c.2630A>G (p.Asn877Ser) 786203689 MedGen:C0027672,SNOMED CT:C0027672 17 41244918 41244918 T C 185011 single nucleotide variant NM_007294.3(BRCA1):c.2630A>G (p.Asn877Ser) 786203689 MedGen:C0027672,SNOMED CT:C0027672 17 43092901 43092901 T C 185012 single nucleotide variant NM_007294.3(BRCA1):c.2569T>C (p.Leu857=) 779895958 MedGen:C0027672,SNOMED CT:C0027672 17 41244979 41244979 A G 185012 single nucleotide variant NM_007294.3(BRCA1):c.2569T>C (p.Leu857=) 779895958 MedGen:C0027672,SNOMED CT:C0027672 17 43092962 43092962 A G 185013 single nucleotide variant NM_007294.3(BRCA1):c.2564A>C (p.Gln855Pro) 768001441 MedGen:C0027672,SNOMED CT:C0027672 17 41244984 41244984 T G 185013 single nucleotide variant NM_007294.3(BRCA1):c.2564A>C (p.Gln855Pro) 768001441 MedGen:C0027672,SNOMED CT:C0027672 17 43092967 43092967 T G 185014 single nucleotide variant NM_007294.3(BRCA1):c.2536G>A (p.Glu846Lys) 786203523 MedGen:C0027672,SNOMED CT:C0027672 17 41245012 41245012 C T 185014 single nucleotide variant NM_007294.3(BRCA1):c.2536G>A (p.Glu846Lys) 786203523 MedGen:C0027672,SNOMED CT:C0027672 17 43092995 43092995 C T 185015 single nucleotide variant NM_007294.3(BRCA1):c.2523G>A (p.Arg841=) 773013395 MedGen:C0027672,SNOMED CT:C0027672 17 41245025 41245025 C T 185015 single nucleotide variant NM_007294.3(BRCA1):c.2523G>A (p.Arg841=) 773013395 MedGen:C0027672,SNOMED CT:C0027672 17 43093008 43093008 C T 185016 single nucleotide variant NM_007294.3(BRCA1):c.2518A>G (p.Ser840Gly) 377475866 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245030 41245030 T C 185016 single nucleotide variant NM_007294.3(BRCA1):c.2518A>G (p.Ser840Gly) 377475866 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093013 43093013 T C 185017 single nucleotide variant NM_007294.3(BRCA1):c.2500G>C (p.Gly834Arg) 786202215 MedGen:C0027672,SNOMED CT:C0027672 17 41245048 41245048 C G 185017 single nucleotide variant NM_007294.3(BRCA1):c.2500G>C (p.Gly834Arg) 786202215 MedGen:C0027672,SNOMED CT:C0027672 17 43093031 43093031 C G 185018 single nucleotide variant NM_007294.3(BRCA1):c.2472T>C (p.Asn824=) 786201415 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41245076 41245076 A G 185018 single nucleotide variant NM_007294.3(BRCA1):c.2472T>C (p.Asn824=) 786201415 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43093059 43093059 A G 185019 single nucleotide variant NM_007294.3(BRCA1):c.2440C>T (p.Leu814=) 786202054 MedGen:C0027672,SNOMED CT:C0027672 17 41245108 41245108 G A 185019 single nucleotide variant NM_007294.3(BRCA1):c.2440C>T (p.Leu814=) 786202054 MedGen:C0027672,SNOMED CT:C0027672 17 43093091 43093091 G A 185020 single nucleotide variant NM_007294.3(BRCA1):c.2421A>G (p.Ala807=) 772960140 MedGen:C0027672,SNOMED CT:C0027672 17 41245127 41245127 T C 185020 single nucleotide variant NM_007294.3(BRCA1):c.2421A>G (p.Ala807=) 772960140 MedGen:C0027672,SNOMED CT:C0027672 17 43093110 43093110 T C 185021 single nucleotide variant NM_007294.3(BRCA1):c.2412G>A (p.Gln804=) 55746541 MedGen:C0027672,SNOMED CT:C0027672 17 41245136 41245136 C T 185021 single nucleotide variant NM_007294.3(BRCA1):c.2412G>A (p.Gln804=) 55746541 MedGen:C0027672,SNOMED CT:C0027672 17 43093119 43093119 C T 185022 single nucleotide variant NM_007294.3(BRCA1):c.2410C>G (p.Gln804Glu) 80356982 MedGen:C0027672,SNOMED CT:C0027672 17 43093121 43093121 G C 185022 single nucleotide variant NM_007294.3(BRCA1):c.2410C>G (p.Gln804Glu) 80356982 MedGen:C0027672,SNOMED CT:C0027672 17 41245138 41245138 G C 185023 deletion NM_007294.3(BRCA1):c.2407_2408delAG (p.Gln804Valfs) 786202919 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41245140 41245141 CT - 185023 deletion NM_007294.3(BRCA1):c.2407_2408delAG (p.Gln804Valfs) 786202919 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43093123 43093124 CT - 185024 deletion NM_007294.3(BRCA1):c.2398_2401delAAAT (p.Lys800Valfs) 786202684 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41245147 41245150 ATTT - 185024 deletion NM_007294.3(BRCA1):c.2398_2401delAAAT (p.Lys800Valfs) 786202684 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43093130 43093133 ATTT - 185025 single nucleotide variant NM_007294.3(BRCA1):c.2295G>A (p.Glu765=) 201875054 MedGen:C0027672,SNOMED CT:C0027672 17 41245253 41245253 C T 185025 single nucleotide variant NM_007294.3(BRCA1):c.2295G>A (p.Glu765=) 201875054 MedGen:C0027672,SNOMED CT:C0027672 17 43093236 43093236 C T 185026 single nucleotide variant NM_007294.3(BRCA1):c.2281G>C (p.Glu761Gln) 397507198 MedGen:C0027672,SNOMED CT:C0027672 17 41245267 41245267 C G 185026 single nucleotide variant NM_007294.3(BRCA1):c.2281G>C (p.Glu761Gln) 397507198 MedGen:C0027672,SNOMED CT:C0027672 17 43093250 43093250 C G 185027 single nucleotide variant NM_007294.3(BRCA1):c.2238C>A (p.Asp746Glu) 786202757 MedGen:C0027672,SNOMED CT:C0027672 17 41245310 41245310 G T 185027 single nucleotide variant NM_007294.3(BRCA1):c.2238C>A (p.Asp746Glu) 786202757 MedGen:C0027672,SNOMED CT:C0027672 17 43093293 43093293 G T 185028 single nucleotide variant NM_007294.3(BRCA1):c.2232T>G (p.Ala744=) 4986846 MedGen:C0027672,SNOMED CT:C0027672 17 41245316 41245316 A C 185028 single nucleotide variant NM_007294.3(BRCA1):c.2232T>G (p.Ala744=) 4986846 MedGen:C0027672,SNOMED CT:C0027672 17 43093299 43093299 A C 185029 single nucleotide variant NM_007294.3(BRCA1):c.2230G>A (p.Ala744Thr) 786203435 MedGen:C0027672,SNOMED CT:C0027672 17 41245318 41245318 C T 185029 single nucleotide variant NM_007294.3(BRCA1):c.2230G>A (p.Ala744Thr) 786203435 MedGen:C0027672,SNOMED CT:C0027672 17 43093301 43093301 C T 185030 single nucleotide variant NM_007294.3(BRCA1):c.2218G>T (p.Val740Leu) 80357415 MedGen:C0027672,SNOMED CT:C0027672 17 41245330 41245330 C A 185030 single nucleotide variant NM_007294.3(BRCA1):c.2218G>T (p.Val740Leu) 80357415 MedGen:C0027672,SNOMED CT:C0027672 17 43093313 43093313 C A 185031 duplication NM_007294.3(BRCA1):c.2214dupT (p.Lys739Terfs) 397507197 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41245334 41245334 A AA 185031 duplication NM_007294.3(BRCA1):c.2214dupT (p.Lys739Terfs) 397507197 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43093317 43093317 A AA 185032 single nucleotide variant NM_007294.3(BRCA1):c.2134T>C (p.Cys712Arg) 786202015 MedGen:C0027672,SNOMED CT:C0027672 17 41245414 41245414 A G 185032 single nucleotide variant NM_007294.3(BRCA1):c.2134T>C (p.Cys712Arg) 786202015 MedGen:C0027672,SNOMED CT:C0027672 17 43093397 43093397 A G 185033 single nucleotide variant NM_007294.3(BRCA1):c.2121T>G (p.Gly707=) 786201649 MedGen:C0027672,SNOMED CT:C0027672 17 41245427 41245427 A C 185033 single nucleotide variant NM_007294.3(BRCA1):c.2121T>G (p.Gly707=) 786201649 MedGen:C0027672,SNOMED CT:C0027672 17 43093410 43093410 A C 185034 single nucleotide variant NM_007294.3(BRCA1):c.2050C>A (p.Pro684Thr) 397508934 MedGen:C0027672,SNOMED CT:C0027672 17 41245498 41245498 G T 185034 single nucleotide variant NM_007294.3(BRCA1):c.2050C>A (p.Pro684Thr) 397508934 MedGen:C0027672,SNOMED CT:C0027672 17 43093481 43093481 G T 185035 single nucleotide variant NM_007294.3(BRCA1):c.2014A>G (p.Lys672Glu) 397508929 MedGen:C0027672,SNOMED CT:C0027672 17 41245534 41245534 T C 185035 single nucleotide variant NM_007294.3(BRCA1):c.2014A>G (p.Lys672Glu) 397508929 MedGen:C0027672,SNOMED CT:C0027672 17 43093517 43093517 T C 185036 single nucleotide variant NM_007294.3(BRCA1):c.1966A>G (p.Asn656Asp) 786203455 MedGen:C0027672,SNOMED CT:C0027672 17 41245582 41245582 T C 185036 single nucleotide variant NM_007294.3(BRCA1):c.1966A>G (p.Asn656Asp) 786203455 MedGen:C0027672,SNOMED CT:C0027672 17 43093565 43093565 T C 185037 deletion NM_007294.3(BRCA1):c.1964delA (p.Tyr655Serfs) 786203594 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41245584 41245584 T - 185037 deletion NM_007294.3(BRCA1):c.1964delA (p.Tyr655Serfs) 786203594 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43093567 43093567 T - 185038 single nucleotide variant NM_007294.3(BRCA1):c.1959A>G (p.Lys653=) 767530204 MedGen:C0027672,SNOMED CT:C0027672 17 41245589 41245589 T C 185038 single nucleotide variant NM_007294.3(BRCA1):c.1959A>G (p.Lys653=) 767530204 MedGen:C0027672,SNOMED CT:C0027672 17 43093572 43093572 T C 185039 single nucleotide variant NM_007294.3(BRCA1):c.1926T>C (p.Asp642=) 786203720 MedGen:C0027672,SNOMED CT:C0027672 17 41245622 41245622 A G 185039 single nucleotide variant NM_007294.3(BRCA1):c.1926T>C (p.Asp642=) 786203720 MedGen:C0027672,SNOMED CT:C0027672 17 43093605 43093605 A G 185040 single nucleotide variant NM_007294.3(BRCA1):c.1919A>C (p.Gln640Pro) 786203965 MedGen:C0027672,SNOMED CT:C0027672 17 41245629 41245629 T G 185040 single nucleotide variant NM_007294.3(BRCA1):c.1919A>C (p.Gln640Pro) 786203965 MedGen:C0027672,SNOMED CT:C0027672 17 43093612 43093612 T G 185041 single nucleotide variant NM_007294.3(BRCA1):c.1917G>A (p.Leu639=) 786202103 MedGen:C0027672,SNOMED CT:C0027672 17 41245631 41245631 C T 185041 single nucleotide variant NM_007294.3(BRCA1):c.1917G>A (p.Leu639=) 786202103 MedGen:C0027672,SNOMED CT:C0027672 17 43093614 43093614 C T 185042 single nucleotide variant NM_007294.3(BRCA1):c.1913A>C (p.Glu638Ala) 786201944 MedGen:C0027672,SNOMED CT:C0027672 17 41245635 41245635 T G 185042 single nucleotide variant NM_007294.3(BRCA1):c.1913A>C (p.Glu638Ala) 786201944 MedGen:C0027672,SNOMED CT:C0027672 17 43093618 43093618 T G 185043 single nucleotide variant NM_007294.3(BRCA1):c.1893A>C (p.Leu631=) 80356834 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245655 41245655 T G 185043 single nucleotide variant NM_007294.3(BRCA1):c.1893A>C (p.Leu631=) 80356834 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093638 43093638 T G 185044 single nucleotide variant NM_007294.3(BRCA1):c.1881C>T (p.Val627=) 80356838 MedGen:C0027672,SNOMED CT:C0027672 17 41245667 41245667 G A 185044 single nucleotide variant NM_007294.3(BRCA1):c.1881C>T (p.Val627=) 80356838 MedGen:C0027672,SNOMED CT:C0027672 17 43093650 43093650 G A 185045 single nucleotide variant NM_007294.3(BRCA1):c.1875A>G (p.Leu625=) 786201429 MedGen:C0027672,SNOMED CT:C0027672 17 41245673 41245673 T C 185045 single nucleotide variant NM_007294.3(BRCA1):c.1875A>G (p.Leu625=) 786201429 MedGen:C0027672,SNOMED CT:C0027672 17 43093656 43093656 T C 185046 single nucleotide variant NM_007294.3(BRCA1):c.1863T>C (p.His621=) 786201460 MedGen:C0027672,SNOMED CT:C0027672 17 41245685 41245685 A G 185046 single nucleotide variant NM_007294.3(BRCA1):c.1863T>C (p.His621=) 786201460 MedGen:C0027672,SNOMED CT:C0027672 17 43093668 43093668 A G 185047 single nucleotide variant NM_007294.3(BRCA1):c.1842G>A (p.Lys614=) 760109939 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245706 41245706 C T 185047 single nucleotide variant NM_007294.3(BRCA1):c.1842G>A (p.Lys614=) 760109939 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093689 43093689 C T 185048 single nucleotide variant NM_007294.3(BRCA1):c.1838G>A (p.Arg613Lys) 786203937 MedGen:C0027672,SNOMED CT:C0027672 17 41245710 41245710 C T 185048 single nucleotide variant NM_007294.3(BRCA1):c.1838G>A (p.Arg613Lys) 786203937 MedGen:C0027672,SNOMED CT:C0027672 17 43093693 43093693 C T 185049 single nucleotide variant NM_007294.3(BRCA1):c.1833G>A (p.Leu611=) 786201548 MedGen:C0027672,SNOMED CT:C0027672 17 41245715 41245715 C T 185049 single nucleotide variant NM_007294.3(BRCA1):c.1833G>A (p.Leu611=) 786201548 MedGen:C0027672,SNOMED CT:C0027672 17 43093698 43093698 C T 185050 single nucleotide variant NM_007294.3(BRCA1):c.1797T>C (p.Asn599=) 756211343 MedGen:C0027672,SNOMED CT:C0027672 17 41245751 41245751 A G 185050 single nucleotide variant NM_007294.3(BRCA1):c.1797T>C (p.Asn599=) 756211343 MedGen:C0027672,SNOMED CT:C0027672 17 43093734 43093734 A G 185051 single nucleotide variant NM_007294.3(BRCA1):c.1775G>A (p.Ser592Asn) 786203044 MedGen:C0027672,SNOMED CT:C0027672 17 41245773 41245773 C T 185051 single nucleotide variant NM_007294.3(BRCA1):c.1775G>A (p.Ser592Asn) 786203044 MedGen:C0027672,SNOMED CT:C0027672 17 43093756 43093756 C T 185052 single nucleotide variant NM_007294.3(BRCA1):c.1745C>T (p.Thr582Met) 786202386 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245803 41245803 G A 185052 single nucleotide variant NM_007294.3(BRCA1):c.1745C>T (p.Thr582Met) 786202386 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093786 43093786 G A 185053 single nucleotide variant NM_007294.3(BRCA1):c.1731A>G (p.Glu577=) 28897678 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245817 41245817 T C 185053 single nucleotide variant NM_007294.3(BRCA1):c.1731A>G (p.Glu577=) 28897678 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093800 43093800 T C 185054 single nucleotide variant NM_007294.3(BRCA1):c.1728A>G (p.Lys576=) 786201232 MedGen:C0027672,SNOMED CT:C0027672 17 41245820 41245820 T C 185054 single nucleotide variant NM_007294.3(BRCA1):c.1728A>G (p.Lys576=) 786201232 MedGen:C0027672,SNOMED CT:C0027672 17 43093803 43093803 T C 185055 single nucleotide variant NM_007294.3(BRCA1):c.1724A>G (p.Glu575Gly) 111539978 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245824 41245824 T C 185055 single nucleotide variant NM_007294.3(BRCA1):c.1724A>G (p.Glu575Gly) 111539978 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093807 43093807 T C 185056 single nucleotide variant NM_007294.3(BRCA1):c.1713A>G (p.Ile571Met) 552505690 MedGen:C0027672,SNOMED CT:C0027672 17 41245835 41245835 T C 185056 single nucleotide variant NM_007294.3(BRCA1):c.1713A>G (p.Ile571Met) 552505690 MedGen:C0027672,SNOMED CT:C0027672 17 43093818 43093818 T C 185057 single nucleotide variant NM_007294.3(BRCA1):c.1702C>T (p.Pro568Ser) 755122577 MedGen:C0027672,SNOMED CT:C0027672 17 41245846 41245846 G A 185057 single nucleotide variant NM_007294.3(BRCA1):c.1702C>T (p.Pro568Ser) 755122577 MedGen:C0027672,SNOMED CT:C0027672 17 43093829 43093829 G A 185058 single nucleotide variant NM_007294.3(BRCA1):c.1658A>C (p.His553Pro) 748431827 MedGen:C0027672,SNOMED CT:C0027672 17 41245890 41245890 T G 185058 single nucleotide variant NM_007294.3(BRCA1):c.1658A>C (p.His553Pro) 748431827 MedGen:C0027672,SNOMED CT:C0027672 17 43093873 43093873 T G 185059 single nucleotide variant NM_007294.3(BRCA1):c.1635G>A (p.Val545=) 770842236 MedGen:C0027672,SNOMED CT:C0027672 17 41245913 41245913 C T 185059 single nucleotide variant NM_007294.3(BRCA1):c.1635G>A (p.Val545=) 770842236 MedGen:C0027672,SNOMED CT:C0027672 17 43093896 43093896 C T 185060 single nucleotide variant NM_007294.3(BRCA1):c.1617G>A (p.Thr539=) 372002119 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245931 41245931 C T 185060 single nucleotide variant NM_007294.3(BRCA1):c.1617G>A (p.Thr539=) 372002119 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093914 43093914 C T 185061 single nucleotide variant NM_007294.3(BRCA1):c.1506A>G (p.Leu502=) 786203671 MedGen:C0027672,SNOMED CT:C0027672 17 41246042 41246042 T C 185061 single nucleotide variant NM_007294.3(BRCA1):c.1506A>G (p.Leu502=) 786203671 MedGen:C0027672,SNOMED CT:C0027672 17 43094025 43094025 T C 185062 single nucleotide variant NM_007294.3(BRCA1):c.1491C>G (p.Pro497=) 786202374 MedGen:C0027672,SNOMED CT:C0027672 17 41246057 41246057 G C 185062 single nucleotide variant NM_007294.3(BRCA1):c.1491C>G (p.Pro497=) 786202374 MedGen:C0027672,SNOMED CT:C0027672 17 43094040 43094040 G C 185063 deletion NM_007294.3(BRCA1):c.1477delA (p.Ile493Tyrfs) 786203982 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41246071 41246071 T - 185063 deletion NM_007294.3(BRCA1):c.1477delA (p.Ile493Tyrfs) 786203982 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43094054 43094054 T - 185064 single nucleotide variant NM_007294.3(BRCA1):c.1470A>G (p.Pro490=) 775032066 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41246078 41246078 T C 185064 single nucleotide variant NM_007294.3(BRCA1):c.1470A>G (p.Pro490=) 775032066 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43094061 43094061 T C 185065 single nucleotide variant NM_007294.3(BRCA1):c.1419C>T (p.Asn473=) 777228325 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41246129 41246129 G A 185065 single nucleotide variant NM_007294.3(BRCA1):c.1419C>T (p.Asn473=) 777228325 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43094112 43094112 G A 185066 single nucleotide variant NM_007294.3(BRCA1):c.1401G>A (p.Lys467=) 786201323 MedGen:C0027672,SNOMED CT:C0027672 17 41246147 41246147 C T 185066 single nucleotide variant NM_007294.3(BRCA1):c.1401G>A (p.Lys467=) 786201323 MedGen:C0027672,SNOMED CT:C0027672 17 43094130 43094130 C T 185067 single nucleotide variant NM_007294.3(BRCA1):c.1342C>T (p.His448Tyr) 786203578 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41246206 41246206 G A 185067 single nucleotide variant NM_007294.3(BRCA1):c.1342C>T (p.His448Tyr) 786203578 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43094189 43094189 G A 185068 single nucleotide variant NM_007294.3(BRCA1):c.1308T>C (p.Pro436=) 770279083 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43094223 43094223 A G 185068 single nucleotide variant NM_007294.3(BRCA1):c.1308T>C (p.Pro436=) 770279083 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41246240 41246240 A G 185069 single nucleotide variant NM_007294.3(BRCA1):c.1300A>G (p.Ser434Gly) 786203753 MedGen:C0027672,SNOMED CT:C0027672 17 41246248 41246248 T C 185069 single nucleotide variant NM_007294.3(BRCA1):c.1300A>G (p.Ser434Gly) 786203753 MedGen:C0027672,SNOMED CT:C0027672 17 43094231 43094231 T C 185070 single nucleotide variant NM_007294.3(BRCA1):c.1286T>C (p.Ile429Thr) 775869160 MedGen:C0027672,SNOMED CT:C0027672 17 41246262 41246262 A G 185070 single nucleotide variant NM_007294.3(BRCA1):c.1286T>C (p.Ile429Thr) 775869160 MedGen:C0027672,SNOMED CT:C0027672 17 43094245 43094245 A G 185071 single nucleotide variant NM_007294.3(BRCA1):c.1275T>A (p.Ser425=) 786201160 MedGen:C0027672,SNOMED CT:C0027672 17 41246273 41246273 A T 185071 single nucleotide variant NM_007294.3(BRCA1):c.1275T>A (p.Ser425=) 786201160 MedGen:C0027672,SNOMED CT:C0027672 17 43094256 43094256 A T 185072 duplication NM_007294.3(BRCA1):c.1256dupT (p.Asp420Argfs) 786203103 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41246292 41246292 A AA 185072 duplication NM_007294.3(BRCA1):c.1256dupT (p.Asp420Argfs) 786203103 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43094275 43094275 A AA 185073 single nucleotide variant NM_007294.3(BRCA1):c.1254G>A (p.Glu418=) 786201948 MedGen:C0027672,SNOMED CT:C0027672 17 41246294 41246294 C T 185073 single nucleotide variant NM_007294.3(BRCA1):c.1254G>A (p.Glu418=) 786201948 MedGen:C0027672,SNOMED CT:C0027672 17 43094277 43094277 C T 185074 single nucleotide variant NM_007294.3(BRCA1):c.1242C>T (p.Asp414=) 372400428 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41246306 41246306 G A 185074 single nucleotide variant NM_007294.3(BRCA1):c.1242C>T (p.Asp414=) 372400428 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43094289 43094289 G A 185075 single nucleotide variant NM_007294.3(BRCA1):c.1237T>C (p.Leu413=) 574008372 MedGen:C0027672,SNOMED CT:C0027672 17 41246311 41246311 A G 185075 single nucleotide variant NM_007294.3(BRCA1):c.1237T>C (p.Leu413=) 574008372 MedGen:C0027672,SNOMED CT:C0027672 17 43094294 43094294 A G 185076 single nucleotide variant NM_007294.3(BRCA1):c.1227A>G (p.Val409=) 149349675 MedGen:C0027672,SNOMED CT:C0027672 17 41246321 41246321 T C 185076 single nucleotide variant NM_007294.3(BRCA1):c.1227A>G (p.Val409=) 149349675 MedGen:C0027672,SNOMED CT:C0027672 17 43094304 43094304 T C 185077 single nucleotide variant NM_007294.3(BRCA1):c.1226T>C (p.Val409Ala) 786202539 MedGen:C0027672,SNOMED CT:C0027672 17 41246322 41246322 A G 185077 single nucleotide variant NM_007294.3(BRCA1):c.1226T>C (p.Val409Ala) 786202539 MedGen:C0027672,SNOMED CT:C0027672 17 43094305 43094305 A G 185078 single nucleotide variant NM_007294.3(BRCA1):c.1215A>G (p.Ser405=) 786201517 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41246333 41246333 T C 185078 single nucleotide variant NM_007294.3(BRCA1):c.1215A>G (p.Ser405=) 786201517 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43094316 43094316 T C 185079 single nucleotide variant NM_007294.3(BRCA1):c.1186G>A (p.Asp396Asn) 786203145 MedGen:C0027672,SNOMED CT:C0027672 17 41246362 41246362 C T 185079 single nucleotide variant NM_007294.3(BRCA1):c.1186G>A (p.Asp396Asn) 786203145 MedGen:C0027672,SNOMED CT:C0027672 17 43094345 43094345 C T 185080 single nucleotide variant NM_007294.3(BRCA1):c.1163G>C (p.Arg388Thr) 786203567 MedGen:C0027672,SNOMED CT:C0027672 17 41246385 41246385 C G 185080 single nucleotide variant NM_007294.3(BRCA1):c.1163G>C (p.Arg388Thr) 786203567 MedGen:C0027672,SNOMED CT:C0027672 17 43094368 43094368 C G 185081 single nucleotide variant NM_007294.3(BRCA1):c.1131C>A (p.Ser377Arg) 786203434 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41246417 41246417 G T 185081 single nucleotide variant NM_007294.3(BRCA1):c.1131C>A (p.Ser377Arg) 786203434 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43094400 43094400 G T 185082 single nucleotide variant NM_007294.3(BRCA1):c.1071A>G (p.Lys357=) 786202159 MedGen:C0027672,SNOMED CT:C0027672 17 41246477 41246477 T C 185082 single nucleotide variant NM_007294.3(BRCA1):c.1071A>G (p.Lys357=) 786202159 MedGen:C0027672,SNOMED CT:C0027672 17 43094460 43094460 T C 185083 single nucleotide variant NM_007294.3(BRCA1):c.1059G>C (p.Trp353Cys) 80356935 MedGen:C0027672,SNOMED CT:C0027672 17 43094472 43094472 C G 185083 single nucleotide variant NM_007294.3(BRCA1):c.1059G>C (p.Trp353Cys) 80356935 MedGen:C0027672,SNOMED CT:C0027672 17 41246489 41246489 C G 185084 single nucleotide variant NM_007294.3(BRCA1):c.1042T>C (p.Cys348Arg) 786201928 MedGen:C0027672,SNOMED CT:C0027672 17 41246506 41246506 A G 185084 single nucleotide variant NM_007294.3(BRCA1):c.1042T>C (p.Cys348Arg) 786201928 MedGen:C0027672,SNOMED CT:C0027672 17 43094489 43094489 A G 185085 single nucleotide variant NM_007294.3(BRCA1):c.997A>G (p.Thr333Ala) 786201634 MedGen:C0027672,SNOMED CT:C0027672 17 41246551 41246551 T C 185085 single nucleotide variant NM_007294.3(BRCA1):c.997A>G (p.Thr333Ala) 786201634 MedGen:C0027672,SNOMED CT:C0027672 17 43094534 43094534 T C 185086 single nucleotide variant NM_007294.3(BRCA1):c.987T>C (p.Asn329=) 774849810 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41246561 41246561 A G 185086 single nucleotide variant NM_007294.3(BRCA1):c.987T>C (p.Asn329=) 774849810 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43094544 43094544 A G 185087 single nucleotide variant NM_007294.3(BRCA1):c.985A>T (p.Asn329Tyr) 786203732 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41246563 41246563 T A 185087 single nucleotide variant NM_007294.3(BRCA1):c.985A>T (p.Asn329Tyr) 786203732 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43094546 43094546 T A 185088 single nucleotide variant NM_007294.3(BRCA1):c.975G>A (p.Lys325=) 786201624 MedGen:C0027672,SNOMED CT:C0027672 17 41246573 41246573 C T 185088 single nucleotide variant NM_007294.3(BRCA1):c.975G>A (p.Lys325=) 786201624 MedGen:C0027672,SNOMED CT:C0027672 17 43094556 43094556 C T 185089 single nucleotide variant NM_007294.3(BRCA1):c.969A>T (p.Gly323=) 45586033 MedGen:C0027672,SNOMED CT:C0027672 17 41246579 41246579 T A 185089 single nucleotide variant NM_007294.3(BRCA1):c.969A>T (p.Gly323=) 45586033 MedGen:C0027672,SNOMED CT:C0027672 17 43094562 43094562 T A 185090 single nucleotide variant NM_007294.3(BRCA1):c.927A>G (p.Lys309=) 757936216 MedGen:C0027672,SNOMED CT:C0027672 17 41246621 41246621 T C 185090 single nucleotide variant NM_007294.3(BRCA1):c.927A>G (p.Lys309=) 757936216 MedGen:C0027672,SNOMED CT:C0027672 17 43094604 43094604 T C 185091 single nucleotide variant NM_007294.3(BRCA1):c.845C>T (p.Ser282Leu) 786203027 MedGen:C0027672,SNOMED CT:C0027672 17 41246703 41246703 G A 185091 single nucleotide variant NM_007294.3(BRCA1):c.845C>T (p.Ser282Leu) 786203027 MedGen:C0027672,SNOMED CT:C0027672 17 43094686 43094686 G A 185092 single nucleotide variant NM_007294.3(BRCA1):c.834T>G (p.Thr278=) 762956862 MedGen:C0027672,SNOMED CT:C0027672 17 41246714 41246714 A C 185092 single nucleotide variant NM_007294.3(BRCA1):c.834T>G (p.Thr278=) 762956862 MedGen:C0027672,SNOMED CT:C0027672 17 43094697 43094697 A C 185093 single nucleotide variant NM_007294.3(BRCA1):c.828A>G (p.Thr276=) 186274774 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41246720 41246720 T C 185093 single nucleotide variant NM_007294.3(BRCA1):c.828A>G (p.Thr276=) 186274774 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43094703 43094703 T C 185094 single nucleotide variant NM_007294.3(BRCA1):c.811G>T (p.Val271Leu) 80357244 MedGen:C0027672,SNOMED CT:C0027672 17 41246737 41246737 C A 185094 single nucleotide variant NM_007294.3(BRCA1):c.811G>T (p.Val271Leu) 80357244 MedGen:C0027672,SNOMED CT:C0027672 17 43094720 43094720 C A 185095 single nucleotide variant NM_007294.3(BRCA1):c.778A>C (p.Lys260Gln) 786202263 MedGen:C0027672,SNOMED CT:C0027672 17 41246770 41246770 T G 185095 single nucleotide variant NM_007294.3(BRCA1):c.778A>C (p.Lys260Gln) 786202263 MedGen:C0027672,SNOMED CT:C0027672 17 43094753 43094753 T G 185096 single nucleotide variant NM_007294.3(BRCA1):c.768G>A (p.Arg256=) 746067447 MedGen:C0027672,SNOMED CT:C0027672 17 41246780 41246780 C T 185096 single nucleotide variant NM_007294.3(BRCA1):c.768G>A (p.Arg256=) 746067447 MedGen:C0027672,SNOMED CT:C0027672 17 43094763 43094763 C T 185097 single nucleotide variant NM_007294.3(BRCA1):c.756T>C (p.Arg252=) 786201338 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43094775 43094775 A G 185097 single nucleotide variant NM_007294.3(BRCA1):c.756T>C (p.Arg252=) 786201338 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41246792 41246792 A G 185098 deletion NM_007294.3(BRCA1):c.717_719delTCA (p.His239del) 786202378 MedGen:C0027672,SNOMED CT:C0027672 17 41246829 41246831 TGA - 185098 deletion NM_007294.3(BRCA1):c.717_719delTCA (p.His239del) 786202378 MedGen:C0027672,SNOMED CT:C0027672 17 43094812 43094814 TGA - 185099 single nucleotide variant NM_007294.3(BRCA1):c.699A>G (p.Val233=) 786202162 MedGen:C0027672,SNOMED CT:C0027672 17 41246849 41246849 T C 185099 single nucleotide variant NM_007294.3(BRCA1):c.699A>G (p.Val233=) 786202162 MedGen:C0027672,SNOMED CT:C0027672 17 43094832 43094832 T C 185100 single nucleotide variant NM_007294.3(BRCA1):c.683T>A (p.Phe228Tyr) 191872612 MedGen:C0027672,SNOMED CT:C0027672 17 41246865 41246865 A T 185100 single nucleotide variant NM_007294.3(BRCA1):c.683T>A (p.Phe228Tyr) 191872612 MedGen:C0027672,SNOMED CT:C0027672 17 43094848 43094848 A T 185101 single nucleotide variant NM_007294.3(BRCA1):c.652T>C (p.Leu218=) 765950064 MedGen:C0027672,SNOMED CT:C0027672 17 41247881 41247881 A G 185101 single nucleotide variant NM_007294.3(BRCA1):c.652T>C (p.Leu218=) 765950064 MedGen:C0027672,SNOMED CT:C0027672 17 43095864 43095864 A G 185102 single nucleotide variant NM_007294.3(BRCA1):c.640G>A (p.Asp214Asn) 786203797 MedGen:C0027672,SNOMED CT:C0027672 17 41247893 41247893 C T 185102 single nucleotide variant NM_007294.3(BRCA1):c.640G>A (p.Asp214Asn) 786203797 MedGen:C0027672,SNOMED CT:C0027672 17 43095876 43095876 C T 185103 single nucleotide variant NM_007294.3(BRCA1):c.603T>C (p.Asp201=) 786201512 MedGen:C0027672,SNOMED CT:C0027672 17 41247930 41247930 A G 185103 single nucleotide variant NM_007294.3(BRCA1):c.603T>C (p.Asp201=) 786201512 MedGen:C0027672,SNOMED CT:C0027672 17 43095913 43095913 A G 185104 single nucleotide variant NM_007294.3(BRCA1):c.570C>T (p.Thr190=) 201536070 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41249284 41249284 G A 185104 single nucleotide variant NM_007294.3(BRCA1):c.570C>T (p.Thr190=) 201536070 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43097267 43097267 G A 185105 single nucleotide variant NM_007294.3(BRCA1):c.570C>A (p.Thr190=) 201536070 MedGen:C0027672,SNOMED CT:C0027672 17 41249284 41249284 G T 185105 single nucleotide variant NM_007294.3(BRCA1):c.570C>A (p.Thr190=) 201536070 MedGen:C0027672,SNOMED CT:C0027672 17 43097267 43097267 G T 185106 single nucleotide variant NM_007294.3(BRCA1):c.564A>G (p.Glu188=) 768065826 MedGen:C0027672,SNOMED CT:C0027672 17 41249290 41249290 T C 185106 single nucleotide variant NM_007294.3(BRCA1):c.564A>G (p.Glu188=) 768065826 MedGen:C0027672,SNOMED CT:C0027672 17 43097273 43097273 T C 185108 single nucleotide variant NM_007294.3(BRCA1):c.530C>G (p.Ser177Cys) 753940026 MedGen:C0027672,SNOMED CT:C0027672 17 41251809 41251809 G C 185108 single nucleotide variant NM_007294.3(BRCA1):c.530C>G (p.Ser177Cys) 753940026 MedGen:C0027672,SNOMED CT:C0027672 17 43099792 43099792 G C 185109 single nucleotide variant NM_007294.3(BRCA1):c.522A>G (p.Gln174=) 765432756 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41251817 41251817 T C 185109 single nucleotide variant NM_007294.3(BRCA1):c.522A>G (p.Gln174=) 765432756 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43099800 43099800 T C 185110 single nucleotide variant NM_007294.3(BRCA1):c.507G>A (p.Gln169=) 759882045 MedGen:C0027672,SNOMED CT:C0027672 17 41251832 41251832 C T 185110 single nucleotide variant NM_007294.3(BRCA1):c.507G>A (p.Gln169=) 759882045 MedGen:C0027672,SNOMED CT:C0027672 17 43099815 43099815 C T 185111 single nucleotide variant NM_007294.3(BRCA1):c.426C>T (p.Pro142=) 542687218 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41256154 41256154 G A 185111 single nucleotide variant NM_007294.3(BRCA1):c.426C>T (p.Pro142=) 542687218 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43104137 43104137 G A 185112 single nucleotide variant NM_007294.3(BRCA1):c.420T>G (p.Ser140Arg) 730881448 MedGen:C0027672,SNOMED CT:C0027672 17 41256160 41256160 A C 185112 single nucleotide variant NM_007294.3(BRCA1):c.420T>G (p.Ser140Arg) 730881448 MedGen:C0027672,SNOMED CT:C0027672 17 43104143 43104143 A C 185113 single nucleotide variant NM_007294.3(BRCA1):c.416A>G (p.Gln139Arg) 786202213 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41256164 41256164 T C 185113 single nucleotide variant NM_007294.3(BRCA1):c.416A>G (p.Gln139Arg) 786202213 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43104147 43104147 T C 185114 duplication NM_007294.3(BRCA1):c.416dupA (p.Ser140Glufs) 786203432 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41256164 41256164 T TT 185114 duplication NM_007294.3(BRCA1):c.416dupA (p.Ser140Glufs) 786203432 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43104147 43104147 T TT 185115 single nucleotide variant NM_007294.3(BRCA1):c.378A>G (p.Gln126=) 786201256 MedGen:C0027672,SNOMED CT:C0027672 17 41256202 41256202 T C 185115 single nucleotide variant NM_007294.3(BRCA1):c.378A>G (p.Gln126=) 786201256 MedGen:C0027672,SNOMED CT:C0027672 17 43104185 43104185 T C 185116 single nucleotide variant NM_007294.3(BRCA1):c.366T>G (p.Val122=) 190900046 MedGen:C0027672,SNOMED CT:C0027672 17 41256214 41256214 A C 185116 single nucleotide variant NM_007294.3(BRCA1):c.366T>G (p.Val122=) 190900046 MedGen:C0027672,SNOMED CT:C0027672 17 43104197 43104197 A C 185117 single nucleotide variant NM_007294.3(BRCA1):c.341C>G (p.Ser114Cys) 786202620 MedGen:C0027672,SNOMED CT:C0027672 17 41256239 41256239 G C 185117 single nucleotide variant NM_007294.3(BRCA1):c.341C>G (p.Ser114Cys) 786202620 MedGen:C0027672,SNOMED CT:C0027672 17 43104222 43104222 G C 185118 single nucleotide variant NM_007294.3(BRCA1):c.316A>C (p.Asn106His) 786202937 MedGen:C0027672,SNOMED CT:C0027672 17 41256264 41256264 T G 185118 single nucleotide variant NM_007294.3(BRCA1):c.316A>C (p.Asn106His) 786202937 MedGen:C0027672,SNOMED CT:C0027672 17 43104247 43104247 T G 185119 single nucleotide variant NM_007294.3(BRCA1):c.271T>C (p.Cys91Arg) 786203939 MedGen:C0027672,SNOMED CT:C0027672 17 41256915 41256915 A G 185119 single nucleotide variant NM_007294.3(BRCA1):c.271T>C (p.Cys91Arg) 786203939 MedGen:C0027672,SNOMED CT:C0027672 17 43104898 43104898 A G 185120 single nucleotide variant NM_007294.3(BRCA1):c.258A>G (p.Leu86=) 777491912 MedGen:C0027672,SNOMED CT:C0027672 17 41256928 41256928 T C 185120 single nucleotide variant NM_007294.3(BRCA1):c.258A>G (p.Leu86=) 777491912 MedGen:C0027672,SNOMED CT:C0027672 17 43104911 43104911 T C 185121 single nucleotide variant NM_007294.3(BRCA1):c.255G>A (p.Glu85=) 756499058 MedGen:C0027672,SNOMED CT:C0027672 17 41256931 41256931 C T 185121 single nucleotide variant NM_007294.3(BRCA1):c.255G>A (p.Glu85=) 756499058 MedGen:C0027672,SNOMED CT:C0027672 17 43104914 43104914 C T 185122 single nucleotide variant NM_007294.3(BRCA1):c.217C>T (p.Leu73=) 786201203 MedGen:C0027672,SNOMED CT:C0027672 17 43104952 43104952 G A 185123 single nucleotide variant NM_007294.3(BRCA1):c.212+4T>C 398122652 MedGen:C0027672,SNOMED CT:C0027672 17 41258469 41258469 A G 185123 single nucleotide variant NM_007294.3(BRCA1):c.212+4T>C 398122652 MedGen:C0027672,SNOMED CT:C0027672 17 43106452 43106452 A G 185124 deletion NM_007294.3(BRCA1):c.212+1delG 786203526 MedGen:C0027672,SNOMED CT:C0027672 17 41258472 41258472 C - 185124 deletion NM_007294.3(BRCA1):c.212+1delG 786203526 MedGen:C0027672,SNOMED CT:C0027672 17 43106455 43106455 C - 185125 single nucleotide variant NM_007294.3(BRCA1):c.212G>T (p.Arg71Met) 80356913 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41258473 41258473 C A 185125 single nucleotide variant NM_007294.3(BRCA1):c.212G>T (p.Arg71Met) 80356913 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43106456 43106456 C A 185126 single nucleotide variant NM_007294.3(BRCA1):c.185C>G (p.Pro62Arg) 786202286 MedGen:C0027672,SNOMED CT:C0027672 17 41258500 41258500 G C 185126 single nucleotide variant NM_007294.3(BRCA1):c.185C>G (p.Pro62Arg) 786202286 MedGen:C0027672,SNOMED CT:C0027672 17 43106483 43106483 G C 185127 single nucleotide variant NM_007294.3(BRCA1):c.133A>C (p.Lys45Gln) 769650474 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41267744 41267744 T G 185127 single nucleotide variant NM_007294.3(BRCA1):c.133A>C (p.Lys45Gln) 769650474 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43115727 43115727 T G 185128 single nucleotide variant NM_007294.3(BRCA1):c.123C>T (p.His41=) 786202211 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41267754 41267754 G A 185128 single nucleotide variant NM_007294.3(BRCA1):c.123C>T (p.His41=) 786202211 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43115737 43115737 G A 185129 single nucleotide variant NM_007294.3(BRCA1):c.101C>T (p.Pro34Leu) 786203319 MedGen:C0027672,SNOMED CT:C0027672 17 41267776 41267776 G A 185129 single nucleotide variant NM_007294.3(BRCA1):c.101C>T (p.Pro34Leu) 786203319 MedGen:C0027672,SNOMED CT:C0027672 17 43115759 43115759 G A 185130 single nucleotide variant NM_007294.3(BRCA1):c.66A>C (p.Leu22Phe) 786202533 MedGen:C0027672,SNOMED CT:C0027672 17 41276048 41276048 T G 185130 single nucleotide variant NM_007294.3(BRCA1):c.66A>C (p.Leu22Phe) 786202533 MedGen:C0027672,SNOMED CT:C0027672 17 43124031 43124031 T G 185131 single nucleotide variant NM_007294.3(BRCA1):c.20G>A (p.Arg7His) 144792613 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41276094 41276094 C T 185131 single nucleotide variant NM_007294.3(BRCA1):c.20G>A (p.Arg7His) 144792613 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43124077 43124077 C T 185132 single nucleotide variant NM_007294.3(BRCA1):c.11C>T (p.Ser4Phe) 786203152 MedGen:C0027672,SNOMED CT:C0027672 17 41276103 41276103 G A 185132 single nucleotide variant NM_007294.3(BRCA1):c.11C>T (p.Ser4Phe) 786203152 MedGen:C0027672,SNOMED CT:C0027672 17 43124086 43124086 G A 186238 deletion NM_007294.3(BRCA1):c.5278-?_5467+?del -1 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 na -1 -1 na na 186239 duplication NM_007294.3(BRCA1):c.4186-?_4357+?dup -1 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 na -1 -1 na na 186255 indel NM_007294.3(BRCA1):c.5275_5276delAAinsTG (p.Lys1759Trp) 786204116 MedGen:C0677776,Orphanet:ORPHA145 17 41209070 41209071 TT CA 186255 indel NM_007294.3(BRCA1):c.5275_5276delAAinsTG (p.Lys1759Trp) 786204116 MedGen:C0677776,Orphanet:ORPHA145 17 43057053 43057054 TT CA 186256 single nucleotide variant NM_007294.3(BRCA1):c.3091A>G (p.Ile1031Val) 786203979 MedGen:C0677776,Orphanet:ORPHA145 17 43092440 43092440 T C 186256 single nucleotide variant NM_007294.3(BRCA1):c.3091A>G (p.Ile1031Val) 786203979 MedGen:C0677776,Orphanet:ORPHA145 17 41244457 41244457 T C 186257 single nucleotide variant NM_007294.3(BRCA1):c.2425G>A (p.Glu809Lys) 786204151 MedGen:C0677776,Orphanet:ORPHA145 17 41245123 41245123 C T 186257 single nucleotide variant NM_007294.3(BRCA1):c.2425G>A (p.Glu809Lys) 786204151 MedGen:C0677776,Orphanet:ORPHA145 17 43093106 43093106 C T 186258 single nucleotide variant NM_007294.3(BRCA1):c.2231C>A (p.Ala744Asp) 786204220 MedGen:C0677776,Orphanet:ORPHA145 17 41245317 41245317 G T 186258 single nucleotide variant NM_007294.3(BRCA1):c.2231C>A (p.Ala744Asp) 786204220 MedGen:C0677776,Orphanet:ORPHA145 17 43093300 43093300 G T 186259 single nucleotide variant NM_007294.3(BRCA1):c.1925A>G (p.Asp642Gly) 786204049 MedGen:C0677776,Orphanet:ORPHA145 17 41245623 41245623 T C 186259 single nucleotide variant NM_007294.3(BRCA1):c.1925A>G (p.Asp642Gly) 786204049 MedGen:C0677776,Orphanet:ORPHA145 17 43093606 43093606 T C 186260 single nucleotide variant NM_007294.3(BRCA1):c.1802A>G (p.His601Arg) 371631805 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093729 43093729 T C 186260 single nucleotide variant NM_007294.3(BRCA1):c.1802A>G (p.His601Arg) 371631805 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245746 41245746 T C 186261 duplication NM_007294.3(BRCA1):c.1240dupG (p.Asp414Glyfs) 786204260 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41246308 41246308 C CC 186261 duplication NM_007294.3(BRCA1):c.1240dupG (p.Asp414Glyfs) 786204260 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43094291 43094291 C CC 186535 indel NM_007294.3(BRCA1):c.5543_5545delAGGins43 (p.?) 786204270 MedGen:C2676676,OMIM:604370 17 43045725 43045727 na na 186535 indel NM_007294.3(BRCA1):c.5543_5545delAGGins43 (p.?) 786204270 MedGen:C2676676,OMIM:604370 17 41197742 41197744 na na 186536 single nucleotide variant NM_007294.3(BRCA1):c.5260G>A (p.Glu1754Lys) 80357432 MedGen:C0677776,Orphanet:ORPHA145 17 41209086 41209086 C T 186536 single nucleotide variant NM_007294.3(BRCA1):c.5260G>A (p.Glu1754Lys) 80357432 MedGen:C0677776,Orphanet:ORPHA145 17 43057069 43057069 C T 186537 single nucleotide variant NM_007294.3(BRCA1):c.5193+22C>T 8176260 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41215328 41215328 G A 186537 single nucleotide variant NM_007294.3(BRCA1):c.5193+22C>T 8176260 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43063311 43063311 G A 186538 single nucleotide variant NM_007294.3(BRCA1):c.5126G>A (p.Gly1709Glu) 786204269 MedGen:C0677776,Orphanet:ORPHA145 17 43063900 43063900 C T 186538 single nucleotide variant NM_007294.3(BRCA1):c.5126G>A (p.Gly1709Glu) 786204269 MedGen:C0677776,Orphanet:ORPHA145 17 41215917 41215917 C T 186540 single nucleotide variant NM_007294.3(BRCA1):c.4955T>A (p.Met1652Lys) 80356968 MedGen:C0677776,Orphanet:ORPHA145 17 41222976 41222976 A T 186540 single nucleotide variant NM_007294.3(BRCA1):c.4955T>A (p.Met1652Lys) 80356968 MedGen:C0677776,Orphanet:ORPHA145 17 43070959 43070959 A T 186541 deletion NM_007294.3(BRCA1):c.4358_4484del127 (p.Ala1453Glyfs) -1 MedGen:C0677776,Orphanet:ORPHA145 17 43076488 43076614 na na 186541 deletion NM_007294.3(BRCA1):c.4358_4484del127 (p.Ala1453Glyfs) -1 MedGen:C0677776,Orphanet:ORPHA145 17 41228505 41228631 na na 186542 duplication NM_007294.3(BRCA1):c.4386dupA (p.Tyr1463Ilefs) 786204267 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43076586 43076586 T TT 186542 duplication NM_007294.3(BRCA1):c.4386dupA (p.Tyr1463Ilefs) 786204267 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41228603 41228603 T TT 186544 single nucleotide variant NM_007294.3(BRCA1):c.4185+14G>C 762153716 MedGen:C0677776,Orphanet:ORPHA145 17 41242947 41242947 C G 186544 single nucleotide variant NM_007294.3(BRCA1):c.4185+14G>C 762153716 MedGen:C0677776,Orphanet:ORPHA145 17 43090930 43090930 C G 186545 single nucleotide variant NM_007294.3(BRCA1):c.3093T>A (p.Ile1031=) 786204265 MedGen:C0677776,Orphanet:ORPHA145 17 41244455 41244455 A T 186545 single nucleotide variant NM_007294.3(BRCA1):c.3093T>A (p.Ile1031=) 786204265 MedGen:C0677776,Orphanet:ORPHA145 17 43092438 43092438 A T 186546 duplication NM_007294.3(BRCA1):c.2298dupT (p.Ser767Terfs) 786204264 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43093233 43093233 A AA 186546 duplication NM_007294.3(BRCA1):c.2298dupT (p.Ser767Terfs) 786204264 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41245250 41245250 A AA 186547 single nucleotide variant NM_007294.3(BRCA1):c.1598A>G (p.Asn533Ser) 786204263 MedGen:C0677776,Orphanet:ORPHA145 17 41245950 41245950 T C 186547 single nucleotide variant NM_007294.3(BRCA1):c.1598A>G (p.Asn533Ser) 786204263 MedGen:C0677776,Orphanet:ORPHA145 17 43093933 43093933 T C 186548 deletion NM_007294.3(BRCA1):c.984_988delTAATG (p.Cys328Terfs) 786204262 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41246560 41246564 CATTA - 186548 deletion NM_007294.3(BRCA1):c.984_988delTAATG (p.Cys328Terfs) 786204262 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43094543 43094547 CATTA - 186549 duplication NM_007294.3(BRCA1):c.892_895dupAATG (p.Val299Glufs) 80357806 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41246653 41246656 CATT CATTCATT 186549 duplication NM_007294.3(BRCA1):c.892_895dupAATG (p.Val299Glufs) 80357806 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43094636 43094639 CATT CATTCATT 186550 deletion NM_007294.3(BRCA1):c.885_886delCA (p.Asp295Glufs) 786204261 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41246662 41246663 TG - 186550 deletion NM_007294.3(BRCA1):c.885_886delCA (p.Asp295Glufs) 786204261 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43094645 43094646 TG - 186551 single nucleotide variant NM_007294.3(BRCA1):c.212+23T>A 8176128 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43106433 43106433 A T 186551 single nucleotide variant NM_007294.3(BRCA1):c.212+23T>A 8176128 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41258450 41258450 A T 186980 single nucleotide variant NM_007294.3(BRCA1):c.-20+101C>G 799905 MedGen:C2676676,OMIM:604370 17 41277187 41277187 G C 186980 single nucleotide variant NM_007294.3(BRCA1):c.-20+101C>G 799905 MedGen:C2676676,OMIM:604370 17 43125170 43125170 G C 190856 insertion NM_007294.3(BRCA1):c.3747_3748insCAATATACCTTCTCAGTCTACTAGGCATAGCACCGTTGCTACC (p.Glu1250Glnfs) 797044631 MedGen:C2676676,OMIM:604370 17 41243800 41243801 - GGTAGCAACGGTGCTATGCCTAGTAGACTGAGAAGGTATATTG 190856 insertion NM_007294.3(BRCA1):c.3747_3748insCAATATACCTTCTCAGTCTACTAGGCATAGCACCGTTGCTACC (p.Glu1250Glnfs) 797044631 MedGen:C2676676,OMIM:604370 17 43091783 43091784 - GGTAGCAACGGTGCTATGCCTAGTAGACTGAGAAGGTATATTG 190857 single nucleotide variant NM_007294.3(BRCA1):c.2980T>C (p.Cys994Arg) 144853230 MedGen:CN169374 17 41244568 41244568 A G 190857 single nucleotide variant NM_007294.3(BRCA1):c.2980T>C (p.Cys994Arg) 144853230 MedGen:CN169374 17 43092551 43092551 A G 190858 single nucleotide variant NM_007294.3(BRCA1):c.1467G>A (p.Glu489=) 794726997 MedGen:CN169374 17 41246081 41246081 C T 190858 single nucleotide variant NM_007294.3(BRCA1):c.1467G>A (p.Glu489=) 794726997 MedGen:CN169374 17 43094064 43094064 C T 190859 single nucleotide variant NM_007294.3(BRCA1):c.3858T>C (p.Ser1286=) 794726998 MedGen:CN169374 17 41243690 41243690 A G 190859 single nucleotide variant NM_007294.3(BRCA1):c.3858T>C (p.Ser1286=) 794726998 MedGen:CN169374 17 43091673 43091673 A G 190860 single nucleotide variant NM_007294.3(BRCA1):c.1880T>G (p.Val627Gly) 770002293 MedGen:CN169374 17 41245668 41245668 A C 190860 single nucleotide variant NM_007294.3(BRCA1):c.1880T>G (p.Val627Gly) 770002293 MedGen:CN169374 17 43093651 43093651 A C 191244 single nucleotide variant NM_007294.3(BRCA1):c.4251G>A (p.Val1417=) 777057839 MedGen:CN169374 17 41234527 41234527 C T 191244 single nucleotide variant NM_007294.3(BRCA1):c.4251G>A (p.Val1417=) 777057839 MedGen:CN169374 17 43082510 43082510 C T 191406 single nucleotide variant NM_007294.3(BRCA1):c.4392T>A (p.Pro1464=) 794727102 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41228597 41228597 A T 191406 single nucleotide variant NM_007294.3(BRCA1):c.4392T>A (p.Pro1464=) 794727102 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43076580 43076580 A T 191407 single nucleotide variant NM_007294.3(BRCA1):c.4384G>A (p.Glu1462Lys) 141255461 MedGen:CN169374 17 41228605 41228605 C T 191407 single nucleotide variant NM_007294.3(BRCA1):c.4384G>A (p.Glu1462Lys) 141255461 MedGen:CN169374 17 43076588 43076588 C T 195361 single nucleotide variant NM_007294.3(BRCA1):c.439T>C (p.Leu147=) 794727800 MedGen:CN169374 17 41256141 41256141 A G 195361 single nucleotide variant NM_007294.3(BRCA1):c.439T>C (p.Leu147=) 794727800 MedGen:CN169374 17 43104124 43104124 A G 205705 deletion NM_007294.3(BRCA1):c.594_597delTGTG (p.Ser198Argfs) 797045175 MedGen:C2676676,OMIM:604370;MedGen:C3469521,OMIM:227650 17 43095919 43095922 CACA - 205705 deletion NM_007294.3(BRCA1):c.594_597delTGTG (p.Ser198Argfs) 797045175 MedGen:C2676676,OMIM:604370;MedGen:C3469521,OMIM:227650 17 41247936 41247939 CACA - 206177 single nucleotide variant NM_007294.3(BRCA1):c.*6207C>T 78603756 MedGen:C2676676,OMIM:604370 17 43039471 43039471 G A 206177 single nucleotide variant NM_007294.3(BRCA1):c.*6207C>T 78603756 MedGen:C2676676,OMIM:604370 17 41191488 41191488 G A 206178 single nucleotide variant NM_007294.3(BRCA1):c.*5860C>T 150356989 MedGen:C2676676,OMIM:604370 17 41191835 41191835 G A 206178 single nucleotide variant NM_007294.3(BRCA1):c.*5860C>T 150356989 MedGen:C2676676,OMIM:604370 17 43039818 43039818 G A 206179 insertion NM_007294.3(BRCA1):c.*5678_*5679insAT 35578914 MedGen:C2676676,OMIM:604370 17 41192016 41192017 - AT 206179 insertion NM_007294.3(BRCA1):c.*5678_*5679insAT 35578914 MedGen:C2676676,OMIM:604370 17 43039999 43040000 - AT 206180 single nucleotide variant NM_007294.3(BRCA1):c.*5513G>A 112222971 MedGen:C2676676,OMIM:604370 17 41192182 41192182 C T 206180 single nucleotide variant NM_007294.3(BRCA1):c.*5513G>A 112222971 MedGen:C2676676,OMIM:604370 17 43040165 43040165 C T 206181 single nucleotide variant NM_007294.3(BRCA1):c.*4549G>C 138528005 MedGen:C2676676,OMIM:604370 17 41193146 41193146 C G 206181 single nucleotide variant NM_007294.3(BRCA1):c.*4549G>C 138528005 MedGen:C2676676,OMIM:604370 17 43041129 43041129 C G 206182 single nucleotide variant NM_007294.3(BRCA1):c.*4271T>A 13342026 MedGen:C2676676,OMIM:604370 17 43041407 43041407 A T 206182 single nucleotide variant NM_007294.3(BRCA1):c.*4271T>A 13342026 MedGen:C2676676,OMIM:604370 17 41193424 41193424 A T 206183 single nucleotide variant NM_007294.3(BRCA1):c.*4056C>A 78612526 MedGen:C2676676,OMIM:604370 17 43041622 43041622 G T 206183 single nucleotide variant NM_007294.3(BRCA1):c.*4056C>A 78612526 MedGen:C2676676,OMIM:604370 17 41193639 41193639 G T 206184 single nucleotide variant NM_007294.3(BRCA1):c.*3785T>A 8071278 MedGen:C2676676,OMIM:604370 17 43041893 43041893 A T 206184 single nucleotide variant NM_007294.3(BRCA1):c.*3785T>A 8071278 MedGen:C2676676,OMIM:604370 17 41193910 41193910 A T 206185 single nucleotide variant NM_007294.3(BRCA1):c.*2810A>G 7223952 MedGen:C2676676,OMIM:604370 17 43042868 43042868 T C 206185 single nucleotide variant NM_007294.3(BRCA1):c.*2810A>G 7223952 MedGen:C2676676,OMIM:604370 17 41194885 41194885 T C 206186 single nucleotide variant NM_007294.3(BRCA1):c.*2670A>T 11659028 MedGen:C2676676,OMIM:604370 17 41195025 41195025 T A 206186 single nucleotide variant NM_007294.3(BRCA1):c.*2670A>T 11659028 MedGen:C2676676,OMIM:604370 17 43043008 43043008 T A 206187 single nucleotide variant NM_007294.3(BRCA1):c.*2602C>T 116585239 MedGen:C2676676,OMIM:604370 17 41195093 41195093 G A 206187 single nucleotide variant NM_007294.3(BRCA1):c.*2602C>T 116585239 MedGen:C2676676,OMIM:604370 17 43043076 43043076 G A 206188 single nucleotide variant NM_007294.3(BRCA1):c.*1984C>G 8176323 MedGen:C2676676,OMIM:604370 17 41195711 41195711 G C 206188 single nucleotide variant NM_007294.3(BRCA1):c.*1984C>G 8176323 MedGen:C2676676,OMIM:604370 17 43043694 43043694 G C 206189 single nucleotide variant NM_007294.3(BRCA1):c.*1922T>C 8176322 MedGen:C2676676,OMIM:604370 17 41195773 41195773 A G 206189 single nucleotide variant NM_007294.3(BRCA1):c.*1922T>C 8176322 MedGen:C2676676,OMIM:604370 17 43043756 43043756 A G 206190 single nucleotide variant NM_007294.3(BRCA1):c.*1332G>A 8176320 MedGen:C2676676,OMIM:604370 17 43044346 43044346 C T 206190 single nucleotide variant NM_007294.3(BRCA1):c.*1332G>A 8176320 MedGen:C2676676,OMIM:604370 17 41196363 41196363 C T 206191 single nucleotide variant NM_007294.3(BRCA1):c.*1113G>A 111791349 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41196582 41196582 C T 206191 single nucleotide variant NM_007294.3(BRCA1):c.*1113G>A 111791349 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43044565 43044565 C T 206192 single nucleotide variant NM_007294.3(BRCA1):c.*421G>T 8176318 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41197274 41197274 C A 206192 single nucleotide variant NM_007294.3(BRCA1):c.*421G>T 8176318 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43045257 43045257 C A 206193 single nucleotide variant NM_007294.3(BRCA1):c.*228A>G 56108540 MedGen:C2676676,OMIM:604370 17 43045450 43045450 T C 206193 single nucleotide variant NM_007294.3(BRCA1):c.*228A>G 56108540 MedGen:C2676676,OMIM:604370 17 41197467 41197467 T C 206194 single nucleotide variant NM_007294.3(BRCA1):c.5468-268A>C 181430678 MedGen:C2676676,OMIM:604370 17 41198087 41198087 T G 206194 single nucleotide variant NM_007294.3(BRCA1):c.5468-268A>C 181430678 MedGen:C2676676,OMIM:604370 17 43046070 43046070 T G 206195 single nucleotide variant NM_007294.3(BRCA1):c.5468-451C>T 147297981 MedGen:C2676676,OMIM:604370 17 41198270 41198270 G A 206195 single nucleotide variant NM_007294.3(BRCA1):c.5468-451C>T 147297981 MedGen:C2676676,OMIM:604370 17 43046253 43046253 G A 206196 single nucleotide variant NM_007294.3(BRCA1):c.5468-802T>C 8176314 MedGen:C2676676,OMIM:604370 17 41198621 41198621 A G 206196 single nucleotide variant NM_007294.3(BRCA1):c.5468-802T>C 8176314 MedGen:C2676676,OMIM:604370 17 43046604 43046604 A G 206197 single nucleotide variant NM_007294.3(BRCA1):c.5467+712C>G 139237482 MedGen:C2676676,OMIM:604370 17 41198948 41198948 G C 206197 single nucleotide variant NM_007294.3(BRCA1):c.5467+712C>G 139237482 MedGen:C2676676,OMIM:604370 17 43046931 43046931 G C 206198 single nucleotide variant NM_007294.3(BRCA1):c.5467+658G>A 8176313 MedGen:C2676676,OMIM:604370 17 43046985 43046985 C T 206198 single nucleotide variant NM_007294.3(BRCA1):c.5467+658G>A 8176313 MedGen:C2676676,OMIM:604370 17 41199002 41199002 C T 206199 single nucleotide variant NM_007294.3(BRCA1):c.5467+537A>G 8176312 MedGen:C2676676,OMIM:604370 17 41199123 41199123 T C 206199 single nucleotide variant NM_007294.3(BRCA1):c.5467+537A>G 8176312 MedGen:C2676676,OMIM:604370 17 43047106 43047106 T C 206200 single nucleotide variant NM_007294.3(BRCA1):c.5467+482C>T 8068463 MedGen:C2676676,OMIM:604370 17 41199178 41199178 G A 206200 single nucleotide variant NM_007294.3(BRCA1):c.5467+482C>T 8068463 MedGen:C2676676,OMIM:604370 17 43047161 43047161 G A 206201 single nucleotide variant NM_007294.3(BRCA1):c.5407-193A>G 8176310 MedGen:C2676676,OMIM:604370 17 41199913 41199913 T C 206201 single nucleotide variant NM_007294.3(BRCA1):c.5407-193A>G 8176310 MedGen:C2676676,OMIM:604370 17 43047896 43047896 T C 206202 single nucleotide variant NM_007294.3(BRCA1):c.5407-389A>G 4793190 MedGen:C2676676,OMIM:604370 17 41200109 41200109 T C 206202 single nucleotide variant NM_007294.3(BRCA1):c.5407-389A>G 4793190 MedGen:C2676676,OMIM:604370 17 43048092 43048092 T C 206203 deletion NM_007294.3(BRCA1):c.5406+613_5406+614del 200225694 MedGen:C2676676,OMIM:604370 17 41200524 41200525 TC - 206203 deletion NM_007294.3(BRCA1):c.5406+613_5406+614del 200225694 MedGen:C2676676,OMIM:604370 17 43048507 43048508 TC - 206204 insertion NM_007294.3(BRCA1):c.5406+601_5406+602insG 200489356 MedGen:C2676676,OMIM:604370 17 41200536 41200537 - C 206204 insertion NM_007294.3(BRCA1):c.5406+601_5406+602insG 200489356 MedGen:C2676676,OMIM:604370 17 43048519 43048520 - C 206205 single nucleotide variant NM_007294.3(BRCA1):c.5406+601A>G 4792972 MedGen:C2676676,OMIM:604370 17 41200537 41200537 T C 206205 single nucleotide variant NM_007294.3(BRCA1):c.5406+601A>G 4792972 MedGen:C2676676,OMIM:604370 17 43048520 43048520 T C 206206 single nucleotide variant NM_007294.3(BRCA1):c.5333-153A>G 8176305 MedGen:C2676676,OMIM:604370 17 43049347 43049347 T C 206206 single nucleotide variant NM_007294.3(BRCA1):c.5333-153A>G 8176305 MedGen:C2676676,OMIM:604370 17 41201364 41201364 T C 206207 single nucleotide variant NM_007294.3(BRCA1):c.5333-221C>A 8176304 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41201432 41201432 G T 206207 single nucleotide variant NM_007294.3(BRCA1):c.5333-221C>A 8176304 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43049415 43049415 G T 206208 single nucleotide variant NM_007294.3(BRCA1):c.5333-254A>G 8176303 MedGen:C2676676,OMIM:604370 17 43049448 43049448 T C 206208 single nucleotide variant NM_007294.3(BRCA1):c.5333-254A>G 8176303 MedGen:C2676676,OMIM:604370 17 41201465 41201465 T C 206209 single nucleotide variant NM_007294.3(BRCA1):c.5333-304G>A 55633264 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43049498 43049498 C T 206209 single nucleotide variant NM_007294.3(BRCA1):c.5333-304G>A 55633264 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41201515 41201515 C T 206210 single nucleotide variant NM_007294.3(BRCA1):c.5333-491G>A 3092988 MedGen:C2676676,OMIM:604370 17 41201702 41201702 C T 206210 single nucleotide variant NM_007294.3(BRCA1):c.5333-491G>A 3092988 MedGen:C2676676,OMIM:604370 17 43049685 43049685 C T 206211 single nucleotide variant NM_007294.3(BRCA1):c.5332+501C>T 12949768 MedGen:C2676676,OMIM:604370 17 43050562 43050562 G A 206211 single nucleotide variant NM_007294.3(BRCA1):c.5332+501C>T 12949768 MedGen:C2676676,OMIM:604370 17 41202579 41202579 G A 206212 single nucleotide variant NM_007294.3(BRCA1):c.5332+490T>A 11079053 MedGen:C2676676,OMIM:604370 17 43050573 43050573 A T 206212 single nucleotide variant NM_007294.3(BRCA1):c.5332+490T>A 11079053 MedGen:C2676676,OMIM:604370 17 41202590 41202590 A T 206213 deletion NM_007294.3(BRCA1):c.5332+454del 35805899 MedGen:C2676676,OMIM:604370 17 43050609 43050609 A - 206213 deletion NM_007294.3(BRCA1):c.5332+454del 35805899 MedGen:C2676676,OMIM:604370 17 41202626 41202626 A - 206214 single nucleotide variant NM_007294.3(BRCA1):c.5332+392C>T 8070179 MedGen:C2676676,OMIM:604370 17 43050671 43050671 G A 206214 single nucleotide variant NM_007294.3(BRCA1):c.5332+392C>T 8070179 MedGen:C2676676,OMIM:604370 17 41202688 41202688 G A 206215 single nucleotide variant NM_007294.3(BRCA1):c.5332+185A>C 8176298 MedGen:C2676676,OMIM:604370 17 43050878 43050878 T G 206215 single nucleotide variant NM_007294.3(BRCA1):c.5332+185A>C 8176298 MedGen:C2676676,OMIM:604370 17 41202895 41202895 T G 206216 duplication NM_007294.3(BRCA1):c.5332+182dupA 201644509 MedGen:C2676676,OMIM:604370 17 43050881 43050881 T TT 206216 duplication NM_007294.3(BRCA1):c.5332+182dupA 201644509 MedGen:C2676676,OMIM:604370 17 41202898 41202898 T TT 206217 single nucleotide variant NM_007294.3(BRCA1):c.5278-191A>T 8176297 MedGen:C2676676,OMIM:604370 17 43051308 43051308 T A 206217 single nucleotide variant NM_007294.3(BRCA1):c.5278-191A>T 8176297 MedGen:C2676676,OMIM:604370 17 41203325 41203325 T A 206218 single nucleotide variant NM_007294.3(BRCA1):c.5278-457A>G 8176296 MedGen:C2676676,OMIM:604370 17 43051574 43051574 T C 206218 single nucleotide variant NM_007294.3(BRCA1):c.5278-457A>G 8176296 MedGen:C2676676,OMIM:604370 17 41203591 41203591 T C 206219 single nucleotide variant NM_007294.3(BRCA1):c.5278-573C>T 143338062 MedGen:C2676676,OMIM:604370 17 43051690 43051690 G A 206219 single nucleotide variant NM_007294.3(BRCA1):c.5278-573C>T 143338062 MedGen:C2676676,OMIM:604370 17 41203707 41203707 G A 206220 single nucleotide variant NM_007294.3(BRCA1):c.5278-866G>C 148509734 MedGen:C2676676,OMIM:604370 17 43051983 43051983 C G 206220 single nucleotide variant NM_007294.3(BRCA1):c.5278-866G>C 148509734 MedGen:C2676676,OMIM:604370 17 41204000 41204000 C G 206221 single nucleotide variant NM_007294.3(BRCA1):c.5278-884A>G 113892722 MedGen:C2676676,OMIM:604370 17 43052001 43052001 T C 206221 single nucleotide variant NM_007294.3(BRCA1):c.5278-884A>G 113892722 MedGen:C2676676,OMIM:604370 17 41204018 41204018 T C 206222 single nucleotide variant NM_007294.3(BRCA1):c.5278-1071G>A 150614759 MedGen:C2676676,OMIM:604370 17 43052188 43052188 C T 206222 single nucleotide variant NM_007294.3(BRCA1):c.5278-1071G>A 150614759 MedGen:C2676676,OMIM:604370 17 41204205 41204205 C T 206223 single nucleotide variant NM_007294.3(BRCA1):c.5278-1227C>T 111563453 MedGen:C2676676,OMIM:604370 17 41204361 41204361 G A 206223 single nucleotide variant NM_007294.3(BRCA1):c.5278-1227C>T 111563453 MedGen:C2676676,OMIM:604370 17 43052344 43052344 G A 206224 single nucleotide variant NM_007294.3(BRCA1):c.5278-1243T>C 4793191 MedGen:C2676676,OMIM:604370 17 43052360 43052360 A G 206224 single nucleotide variant NM_007294.3(BRCA1):c.5278-1243T>C 4793191 MedGen:C2676676,OMIM:604370 17 41204377 41204377 A G 206225 single nucleotide variant NM_007294.3(BRCA1):c.5278-1256A>G 4793192 MedGen:C2676676,OMIM:604370 17 43052373 43052373 T C 206225 single nucleotide variant NM_007294.3(BRCA1):c.5278-1256A>G 4793192 MedGen:C2676676,OMIM:604370 17 41204390 41204390 T C 206226 single nucleotide variant NM_007294.3(BRCA1):c.5278-1519A>G 114112971 MedGen:C2676676,OMIM:604370 17 43052636 43052636 T C 206226 single nucleotide variant NM_007294.3(BRCA1):c.5278-1519A>G 114112971 MedGen:C2676676,OMIM:604370 17 41204653 41204653 T C 206227 single nucleotide variant NM_007294.3(BRCA1):c.5278-1644A>G 34685631 MedGen:C2676676,OMIM:604370 17 43052761 43052761 T C 206227 single nucleotide variant NM_007294.3(BRCA1):c.5278-1644A>G 34685631 MedGen:C2676676,OMIM:604370 17 41204778 41204778 T C 206228 single nucleotide variant NM_007294.3(BRCA1):c.5278-1722C>T 17671533 MedGen:C2676676,OMIM:604370 17 43052839 43052839 G A 206228 single nucleotide variant NM_007294.3(BRCA1):c.5278-1722C>T 17671533 MedGen:C2676676,OMIM:604370 17 41204856 41204856 G A 206229 single nucleotide variant NM_007294.3(BRCA1):c.5278-1766A>C 117151230 MedGen:C2676676,OMIM:604370 17 43052883 43052883 T G 206229 single nucleotide variant NM_007294.3(BRCA1):c.5278-1766A>C 117151230 MedGen:C2676676,OMIM:604370 17 41204900 41204900 T G 206230 single nucleotide variant NM_007294.3(BRCA1):c.5278-1874G>A 8176295 MedGen:C2676676,OMIM:604370 17 41205008 41205008 C T 206230 single nucleotide variant NM_007294.3(BRCA1):c.5278-1874G>A 8176295 MedGen:C2676676,OMIM:604370 17 43052991 43052991 C T 206231 single nucleotide variant NM_007294.3(BRCA1):c.5278-1918G>A 149958317 MedGen:C2676676,OMIM:604370 17 41205052 41205052 C T 206231 single nucleotide variant NM_007294.3(BRCA1):c.5278-1918G>A 149958317 MedGen:C2676676,OMIM:604370 17 43053035 43053035 C T 206232 deletion NM_007294.3(BRCA1):c.5278-2237del 8176293 MedGen:C2676676,OMIM:604370 17 43053354 43053354 T - 206232 deletion NM_007294.3(BRCA1):c.5278-2237del 8176293 MedGen:C2676676,OMIM:604370 17 41205371 41205371 T - 206233 single nucleotide variant NM_007294.3(BRCA1):c.5278-2498G>A 182249140 MedGen:C2676676,OMIM:604370 17 43053615 43053615 C T 206233 single nucleotide variant NM_007294.3(BRCA1):c.5278-2498G>A 182249140 MedGen:C2676676,OMIM:604370 17 41205632 41205632 C T 206234 single nucleotide variant NM_007294.3(BRCA1):c.5278-2587C>T 6503725 MedGen:C2676676,OMIM:604370 17 41205721 41205721 G A 206234 single nucleotide variant NM_007294.3(BRCA1):c.5278-2587C>T 6503725 MedGen:C2676676,OMIM:604370 17 43053704 43053704 G A 206235 single nucleotide variant NM_007294.3(BRCA1):c.5278-2638C>T 8176290 MedGen:C2676676,OMIM:604370 17 41205772 41205772 G A 206235 single nucleotide variant NM_007294.3(BRCA1):c.5278-2638C>T 8176290 MedGen:C2676676,OMIM:604370 17 43053755 43053755 G A 206236 single nucleotide variant NM_007294.3(BRCA1):c.5278-2807T>C 7212284 MedGen:C2676676,OMIM:604370 17 41205941 41205941 A G 206236 single nucleotide variant NM_007294.3(BRCA1):c.5278-2807T>C 7212284 MedGen:C2676676,OMIM:604370 17 43053924 43053924 A G 206237 single nucleotide variant NM_007294.3(BRCA1):c.5278-2922A>G 8176289 MedGen:C2676676,OMIM:604370 17 43054039 43054039 T C 206237 single nucleotide variant NM_007294.3(BRCA1):c.5278-2922A>G 8176289 MedGen:C2676676,OMIM:604370 17 41206056 41206056 T C 206238 single nucleotide variant NM_007294.3(BRCA1):c.5278-2963G>A 78695654 MedGen:C2676676,OMIM:604370 17 41206097 41206097 C T 206238 single nucleotide variant NM_007294.3(BRCA1):c.5278-2963G>A 78695654 MedGen:C2676676,OMIM:604370 17 43054080 43054080 C T 206239 single nucleotide variant NM_007294.3(BRCA1):c.5277+2439T>A 143042094 MedGen:C2676676,OMIM:604370 17 43054613 43054613 A T 206239 single nucleotide variant NM_007294.3(BRCA1):c.5277+2439T>A 143042094 MedGen:C2676676,OMIM:604370 17 41206630 41206630 A T 206240 single nucleotide variant NM_007294.3(BRCA1):c.5277+2217A>G 8176287 MedGen:C2676676,OMIM:604370 17 41206852 41206852 T C 206240 single nucleotide variant NM_007294.3(BRCA1):c.5277+2217A>G 8176287 MedGen:C2676676,OMIM:604370 17 43054835 43054835 T C 206241 single nucleotide variant NM_007294.3(BRCA1):c.5277+1607G>T 62076408 MedGen:C2676676,OMIM:604370 17 41207462 41207462 C A 206241 single nucleotide variant NM_007294.3(BRCA1):c.5277+1607G>T 62076408 MedGen:C2676676,OMIM:604370 17 43055445 43055445 C A 206242 single nucleotide variant NM_007294.3(BRCA1):c.5277+1409G>A 36113921 MedGen:C2676676,OMIM:604370 17 43055643 43055643 C T 206242 single nucleotide variant NM_007294.3(BRCA1):c.5277+1409G>A 36113921 MedGen:C2676676,OMIM:604370 17 41207660 41207660 C T 206243 single nucleotide variant NM_007294.3(BRCA1):c.5277+853T>G 116703787 MedGen:C2676676,OMIM:604370 17 41208216 41208216 A C 206243 single nucleotide variant NM_007294.3(BRCA1):c.5277+853T>G 116703787 MedGen:C2676676,OMIM:604370 17 43056199 43056199 A C 206244 single nucleotide variant NM_007294.3(BRCA1):c.5277+764G>A 112757145 MedGen:C2676676,OMIM:604370 17 41208305 41208305 C T 206244 single nucleotide variant NM_007294.3(BRCA1):c.5277+764G>A 112757145 MedGen:C2676676,OMIM:604370 17 43056288 43056288 C T 206245 single nucleotide variant NM_007294.3(BRCA1):c.5277+602T>C 8176286 MedGen:C2676676,OMIM:604370 17 41208467 41208467 A G 206245 single nucleotide variant NM_007294.3(BRCA1):c.5277+602T>C 8176286 MedGen:C2676676,OMIM:604370 17 43056450 43056450 A G 206246 deletion NM_007294.3(BRCA1):c.5277+365del 201212001 MedGen:C2676676,OMIM:604370 17 41208704 41208704 G - 206246 deletion NM_007294.3(BRCA1):c.5277+365del 201212001 MedGen:C2676676,OMIM:604370 17 43056687 43056687 G - 206247 single nucleotide variant NM_007294.3(BRCA1):c.5194-221T>C 111611613 MedGen:C2676676,OMIM:604370 17 41209373 41209373 A G 206247 single nucleotide variant NM_007294.3(BRCA1):c.5194-221T>C 111611613 MedGen:C2676676,OMIM:604370 17 43057356 43057356 A G 206248 single nucleotide variant NM_007294.3(BRCA1):c.5194-423C>T 149635371 MedGen:C2676676,OMIM:604370 17 43057558 43057558 G A 206248 single nucleotide variant NM_007294.3(BRCA1):c.5194-423C>T 149635371 MedGen:C2676676,OMIM:604370 17 41209575 41209575 G A 206249 single nucleotide variant NM_007294.3(BRCA1):c.5194-426A>G 8176282 MedGen:C2676676,OMIM:604370 17 43057561 43057561 T C 206249 single nucleotide variant NM_007294.3(BRCA1):c.5194-426A>G 8176282 MedGen:C2676676,OMIM:604370 17 41209578 41209578 T C 206250 single nucleotide variant NM_007294.3(BRCA1):c.5194-466G>A 8176281 MedGen:C2676676,OMIM:604370 17 43057601 43057601 C T 206250 single nucleotide variant NM_007294.3(BRCA1):c.5194-466G>A 8176281 MedGen:C2676676,OMIM:604370 17 41209618 41209618 C T 206251 single nucleotide variant NM_007294.3(BRCA1):c.5194-475G>T 8176280 MedGen:C2676676,OMIM:604370 17 41209627 41209627 C A 206251 single nucleotide variant NM_007294.3(BRCA1):c.5194-475G>T 8176280 MedGen:C2676676,OMIM:604370 17 43057610 43057610 C A 206252 single nucleotide variant NM_007294.3(BRCA1):c.5194-1179G>T 8066171 MedGen:C2676676,OMIM:604370 17 41210331 41210331 C A 206252 single nucleotide variant NM_007294.3(BRCA1):c.5194-1179G>T 8066171 MedGen:C2676676,OMIM:604370 17 43058314 43058314 C A 206253 single nucleotide variant NM_007294.3(BRCA1):c.5194-1242T>G 146318688 MedGen:C2676676,OMIM:604370 17 43058377 43058377 A C 206253 single nucleotide variant NM_007294.3(BRCA1):c.5194-1242T>G 146318688 MedGen:C2676676,OMIM:604370 17 41210394 41210394 A C 206254 single nucleotide variant NM_007294.3(BRCA1):c.5194-1244T>G 8176279 MedGen:C2676676,OMIM:604370 17 43058379 43058379 A C 206254 single nucleotide variant NM_007294.3(BRCA1):c.5194-1244T>G 8176279 MedGen:C2676676,OMIM:604370 17 41210396 41210396 A C 206255 single nucleotide variant NM_007294.3(BRCA1):c.5194-1264A>G 8176278 MedGen:C2676676,OMIM:604370 17 43058399 43058399 T C 206255 single nucleotide variant NM_007294.3(BRCA1):c.5194-1264A>G 8176278 MedGen:C2676676,OMIM:604370 17 41210416 41210416 T C 206256 single nucleotide variant NM_007294.3(BRCA1):c.5194-1450A>G 8176276 MedGen:C2676676,OMIM:604370 17 41210602 41210602 T C 206256 single nucleotide variant NM_007294.3(BRCA1):c.5194-1450A>G 8176276 MedGen:C2676676,OMIM:604370 17 43058585 43058585 T C 206257 single nucleotide variant NM_007294.3(BRCA1):c.5194-2072G>A 181752925 MedGen:C2676676,OMIM:604370 17 43059207 43059207 C T 206257 single nucleotide variant NM_007294.3(BRCA1):c.5194-2072G>A 181752925 MedGen:C2676676,OMIM:604370 17 41211224 41211224 C T 206258 single nucleotide variant NM_007294.3(BRCA1):c.5194-2216G>T 142638930 MedGen:C2676676,OMIM:604370 17 41211368 41211368 C A 206258 single nucleotide variant NM_007294.3(BRCA1):c.5194-2216G>T 142638930 MedGen:C2676676,OMIM:604370 17 43059351 43059351 C A 206259 single nucleotide variant NM_007294.3(BRCA1):c.5194-2501T>C 8176273 MedGen:C2676676,OMIM:604370 17 41211653 41211653 A G 206259 single nucleotide variant NM_007294.3(BRCA1):c.5194-2501T>C 8176273 MedGen:C2676676,OMIM:604370 17 43059636 43059636 A G 206260 single nucleotide variant NM_007294.3(BRCA1):c.5194-2801A>G 185244474 MedGen:C2676676,OMIM:604370 17 43059936 43059936 T C 206260 single nucleotide variant NM_007294.3(BRCA1):c.5194-2801A>G 185244474 MedGen:C2676676,OMIM:604370 17 41211953 41211953 T C 206261 single nucleotide variant NM_007294.3(BRCA1):c.5194-3017G>A 11652377 MedGen:C2676676,OMIM:604370 17 43060152 43060152 C T 206261 single nucleotide variant NM_007294.3(BRCA1):c.5194-3017G>A 11652377 MedGen:C2676676,OMIM:604370 17 41212169 41212169 C T 206262 single nucleotide variant NM_007294.3(BRCA1):c.5194-3028G>A 146959162 MedGen:C2676676,OMIM:604370 17 41212180 41212180 C T 206262 single nucleotide variant NM_007294.3(BRCA1):c.5194-3028G>A 146959162 MedGen:C2676676,OMIM:604370 17 43060163 43060163 C T 206263 single nucleotide variant NM_007294.3(BRCA1):c.5193+3012T>G 4793193 MedGen:C2676676,OMIM:604370 17 41212338 41212338 A C 206263 single nucleotide variant NM_007294.3(BRCA1):c.5193+3012T>G 4793193 MedGen:C2676676,OMIM:604370 17 43060321 43060321 A C 206264 single nucleotide variant NM_007294.3(BRCA1):c.5193+2803G>A 35330014 MedGen:C2676676,OMIM:604370 17 41212547 41212547 C T 206264 single nucleotide variant NM_007294.3(BRCA1):c.5193+2803G>A 35330014 MedGen:C2676676,OMIM:604370 17 43060530 43060530 C T 206265 single nucleotide variant NM_007294.3(BRCA1):c.5193+2588C>T 111581719 MedGen:C2676676,OMIM:604370 17 41212762 41212762 G A 206265 single nucleotide variant NM_007294.3(BRCA1):c.5193+2588C>T 111581719 MedGen:C2676676,OMIM:604370 17 43060745 43060745 G A 206266 single nucleotide variant NM_007294.3(BRCA1):c.5193+2545G>A 8077486 MedGen:C2676676,OMIM:604370 17 41212805 41212805 C T 206266 single nucleotide variant NM_007294.3(BRCA1):c.5193+2545G>A 8077486 MedGen:C2676676,OMIM:604370 17 43060788 43060788 C T 206267 single nucleotide variant NM_007294.3(BRCA1):c.5193+2337G>A 115522763 MedGen:C2676676,OMIM:604370 17 41213013 41213013 C T 206267 single nucleotide variant NM_007294.3(BRCA1):c.5193+2337G>A 115522763 MedGen:C2676676,OMIM:604370 17 43060996 43060996 C T 206268 single nucleotide variant NM_007294.3(BRCA1):c.5193+2256C>G 141915184 MedGen:C2676676,OMIM:604370 17 43061077 43061077 G C 206268 single nucleotide variant NM_007294.3(BRCA1):c.5193+2256C>G 141915184 MedGen:C2676676,OMIM:604370 17 41213094 41213094 G C 206269 single nucleotide variant NM_007294.3(BRCA1):c.5193+2230C>G 146299550 MedGen:C2676676,OMIM:604370 17 43061103 43061103 G C 206269 single nucleotide variant NM_007294.3(BRCA1):c.5193+2230C>G 146299550 MedGen:C2676676,OMIM:604370 17 41213120 41213120 G C 206270 single nucleotide variant NM_007294.3(BRCA1):c.5193+2032G>A 139650794 MedGen:C2676676,OMIM:604370 17 43061301 43061301 C T 206270 single nucleotide variant NM_007294.3(BRCA1):c.5193+2032G>A 139650794 MedGen:C2676676,OMIM:604370 17 41213318 41213318 C T 206271 single nucleotide variant NM_007294.3(BRCA1):c.5193+1724C>A 8176269 MedGen:C2676676,OMIM:604370 17 41213626 41213626 G T 206271 single nucleotide variant NM_007294.3(BRCA1):c.5193+1724C>A 8176269 MedGen:C2676676,OMIM:604370 17 43061609 43061609 G T 206272 single nucleotide variant NM_007294.3(BRCA1):c.5193+1690A>G 8176268 MedGen:C2676676,OMIM:604370 17 43061643 43061643 T C 206272 single nucleotide variant NM_007294.3(BRCA1):c.5193+1690A>G 8176268 MedGen:C2676676,OMIM:604370 17 41213660 41213660 T C 206273 single nucleotide variant NM_007294.3(BRCA1):c.5193+1602A>G 8176267 MedGen:C2676676,OMIM:604370 17 43061731 43061731 T C 206273 single nucleotide variant NM_007294.3(BRCA1):c.5193+1602A>G 8176267 MedGen:C2676676,OMIM:604370 17 41213748 41213748 T C 206274 single nucleotide variant NM_007294.3(BRCA1):c.5193+1590G>A 8176266 MedGen:C2676676,OMIM:604370 17 43061743 43061743 C T 206274 single nucleotide variant NM_007294.3(BRCA1):c.5193+1590G>A 8176266 MedGen:C2676676,OMIM:604370 17 41213760 41213760 C T 206275 single nucleotide variant NM_007294.3(BRCA1):c.5193+1457G>A 2187603 MedGen:C2676676,OMIM:604370 17 41213893 41213893 C T 206275 single nucleotide variant NM_007294.3(BRCA1):c.5193+1457G>A 2187603 MedGen:C2676676,OMIM:604370 17 43061876 43061876 C T 206276 single nucleotide variant NM_007294.3(BRCA1):c.5193+1354G>A 8176265 MedGen:C2676676,OMIM:604370 17 43061979 43061979 C T 206276 single nucleotide variant NM_007294.3(BRCA1):c.5193+1354G>A 8176265 MedGen:C2676676,OMIM:604370 17 41213996 41213996 C T 206277 single nucleotide variant NM_007294.3(BRCA1):c.5193+1271A>G 8176264 MedGen:C2676676,OMIM:604370 17 43062062 43062062 T C 206277 single nucleotide variant NM_007294.3(BRCA1):c.5193+1271A>G 8176264 MedGen:C2676676,OMIM:604370 17 41214079 41214079 T C 206278 deletion NM_007294.3(BRCA1):c.5193+1139_5193+1140del 8176263 MedGen:C2676676,OMIM:604370 17 41214210 41214211 AA - 206278 deletion NM_007294.3(BRCA1):c.5193+1139_5193+1140del 8176263 MedGen:C2676676,OMIM:604370 17 43062193 43062194 AA - 206279 single nucleotide variant NM_007294.3(BRCA1):c.5193+730A>T 186955850 MedGen:C2676676,OMIM:604370 17 43062603 43062603 T A 206279 single nucleotide variant NM_007294.3(BRCA1):c.5193+730A>T 186955850 MedGen:C2676676,OMIM:604370 17 41214620 41214620 T A 206280 single nucleotide variant NM_007294.3(BRCA1):c.5075-237C>A 8176257 MedGen:C2676676,OMIM:604370 17 43064188 43064188 G T 206280 single nucleotide variant NM_007294.3(BRCA1):c.5075-237C>A 8176257 MedGen:C2676676,OMIM:604370 17 41216205 41216205 G T 206281 single nucleotide variant NM_007294.3(BRCA1):c.5075-238A>G 8176256 MedGen:C2676676,OMIM:604370 17 41216206 41216206 T C 206281 single nucleotide variant NM_007294.3(BRCA1):c.5075-238A>G 8176256 MedGen:C2676676,OMIM:604370 17 43064189 43064189 T C 206282 single nucleotide variant NM_007294.3(BRCA1):c.5075-373C>T 8176255 MedGen:C2676676,OMIM:604370 17 41216341 41216341 G A 206282 single nucleotide variant NM_007294.3(BRCA1):c.5075-373C>T 8176255 MedGen:C2676676,OMIM:604370 17 43064324 43064324 G A 206283 single nucleotide variant NM_007294.3(BRCA1):c.5075-376C>T 8176254 MedGen:C2676676,OMIM:604370 17 41216344 41216344 G A 206283 single nucleotide variant NM_007294.3(BRCA1):c.5075-376C>T 8176254 MedGen:C2676676,OMIM:604370 17 43064327 43064327 G A 206284 single nucleotide variant NM_007294.3(BRCA1):c.5075-745A>T 8176252 MedGen:C2676676,OMIM:604370 17 41216713 41216713 T A 206284 single nucleotide variant NM_007294.3(BRCA1):c.5075-745A>T 8176252 MedGen:C2676676,OMIM:604370 17 43064696 43064696 T A 206285 single nucleotide variant NM_007294.3(BRCA1):c.5075-965A>G 3785546 MedGen:C2676676,OMIM:604370 17 41216933 41216933 T C 206285 single nucleotide variant NM_007294.3(BRCA1):c.5075-965A>G 3785546 MedGen:C2676676,OMIM:604370 17 43064916 43064916 T C 206286 single nucleotide variant NM_007294.3(BRCA1):c.5075-1073C>A 8176250 MedGen:C2676676,OMIM:604370 17 41217041 41217041 G T 206286 single nucleotide variant NM_007294.3(BRCA1):c.5075-1073C>A 8176250 MedGen:C2676676,OMIM:604370 17 43065024 43065024 G T 206287 single nucleotide variant NM_007294.3(BRCA1):c.5075-1135G>A 8176248 MedGen:C2676676,OMIM:604370 17 41217103 41217103 C T 206287 single nucleotide variant NM_007294.3(BRCA1):c.5075-1135G>A 8176248 MedGen:C2676676,OMIM:604370 17 43065086 43065086 C T 206288 deletion NM_007294.3(BRCA1):c.5075-1139del 8176247 MedGen:C2676676,OMIM:604370 17 41217107 41217107 A - 206288 deletion NM_007294.3(BRCA1):c.5075-1139del 8176247 MedGen:C2676676,OMIM:604370 17 43065090 43065090 A - 206289 single nucleotide variant NM_007294.3(BRCA1):c.5075-1143G>A 8176246 MedGen:C2676676,OMIM:604370 17 43065094 43065094 C T 206289 single nucleotide variant NM_007294.3(BRCA1):c.5075-1143G>A 8176246 MedGen:C2676676,OMIM:604370 17 41217111 41217111 C T 206290 single nucleotide variant NM_007294.3(BRCA1):c.5075-1412T>C 8176245 MedGen:C2676676,OMIM:604370 17 43065363 43065363 A G 206290 single nucleotide variant NM_007294.3(BRCA1):c.5075-1412T>C 8176245 MedGen:C2676676,OMIM:604370 17 41217380 41217380 A G 206291 single nucleotide variant NM_007294.3(BRCA1):c.5075-1546A>G 8176244 MedGen:C2676676,OMIM:604370 17 43065497 43065497 T C 206291 single nucleotide variant NM_007294.3(BRCA1):c.5075-1546A>G 8176244 MedGen:C2676676,OMIM:604370 17 41217514 41217514 T C 206292 single nucleotide variant NM_007294.3(BRCA1):c.5075-1584T>G 8176243 MedGen:C2676676,OMIM:604370 17 43065535 43065535 A C 206292 single nucleotide variant NM_007294.3(BRCA1):c.5075-1584T>G 8176243 MedGen:C2676676,OMIM:604370 17 41217552 41217552 A C 206293 single nucleotide variant NM_007294.3(BRCA1):c.5074+1751G>A 8176242 MedGen:C2676676,OMIM:604370 17 41217874 41217874 C T 206293 single nucleotide variant NM_007294.3(BRCA1):c.5074+1751G>A 8176242 MedGen:C2676676,OMIM:604370 17 43065857 43065857 C T 206294 single nucleotide variant NM_007294.3(BRCA1):c.5074+1292C>T 4793194 MedGen:C2676676,OMIM:604370 17 41218333 41218333 G A 206294 single nucleotide variant NM_007294.3(BRCA1):c.5074+1292C>T 4793194 MedGen:C2676676,OMIM:604370 17 43066316 43066316 G A 206295 single nucleotide variant NM_007294.3(BRCA1):c.5074+1253T>C 8176240 MedGen:C2676676,OMIM:604370 17 43066355 43066355 A G 206295 single nucleotide variant NM_007294.3(BRCA1):c.5074+1253T>C 8176240 MedGen:C2676676,OMIM:604370 17 41218372 41218372 A G 206296 single nucleotide variant NM_007294.3(BRCA1):c.5074+1199C>G 8176239 MedGen:C2676676,OMIM:604370 17 43066409 43066409 G C 206296 single nucleotide variant NM_007294.3(BRCA1):c.5074+1199C>G 8176239 MedGen:C2676676,OMIM:604370 17 41218426 41218426 G C 206297 single nucleotide variant NM_007294.3(BRCA1):c.5074+1158G>A 112966361 MedGen:C2676676,OMIM:604370 17 41218467 41218467 C T 206297 single nucleotide variant NM_007294.3(BRCA1):c.5074+1158G>A 112966361 MedGen:C2676676,OMIM:604370 17 43066450 43066450 C T 206298 single nucleotide variant NM_007294.3(BRCA1):c.5074+1053A>G 4793195 MedGen:C2676676,OMIM:604370 17 43066555 43066555 T C 206298 single nucleotide variant NM_007294.3(BRCA1):c.5074+1053A>G 4793195 MedGen:C2676676,OMIM:604370 17 41218572 41218572 T C 206299 single nucleotide variant NM_007294.3(BRCA1):c.5074+1010T>G 142829210 MedGen:C2676676,OMIM:604370 17 43066598 43066598 A C 206299 single nucleotide variant NM_007294.3(BRCA1):c.5074+1010T>G 142829210 MedGen:C2676676,OMIM:604370 17 41218615 41218615 A C 206300 single nucleotide variant NM_007294.3(BRCA1):c.5074+918G>A 8176238 MedGen:C2676676,OMIM:604370 17 43066690 43066690 C T 206300 single nucleotide variant NM_007294.3(BRCA1):c.5074+918G>A 8176238 MedGen:C2676676,OMIM:604370 17 41218707 41218707 C T 206301 single nucleotide variant NM_007294.3(BRCA1):c.5074+909C>T 139793550 MedGen:C2676676,OMIM:604370 17 41218716 41218716 G A 206301 single nucleotide variant NM_007294.3(BRCA1):c.5074+909C>T 139793550 MedGen:C2676676,OMIM:604370 17 43066699 43066699 G A 206302 single nucleotide variant NM_007294.3(BRCA1):c.5074+878G>A 8176237 MedGen:C2676676,OMIM:604370 17 41218747 41218747 C T 206302 single nucleotide variant NM_007294.3(BRCA1):c.5074+878G>A 8176237 MedGen:C2676676,OMIM:604370 17 43066730 43066730 C T 206303 single nucleotide variant NM_007294.3(BRCA1):c.5074+820T>C 8176236 MedGen:C2676676,OMIM:604370 17 43066788 43066788 A G 206303 single nucleotide variant NM_007294.3(BRCA1):c.5074+820T>C 8176236 MedGen:C2676676,OMIM:604370 17 41218805 41218805 A G 206304 single nucleotide variant NM_007294.3(BRCA1):c.5074+265G>A 147144902 MedGen:C2676676,OMIM:604370 17 41219360 41219360 C T 206304 single nucleotide variant NM_007294.3(BRCA1):c.5074+265G>A 147144902 MedGen:C2676676,OMIM:604370 17 43067343 43067343 C T 206305 single nucleotide variant NM_007294.3(BRCA1):c.5074+228C>T 71379207 MedGen:C2676676,OMIM:604370 17 43067380 43067380 G A 206305 single nucleotide variant NM_007294.3(BRCA1):c.5074+228C>T 71379207 MedGen:C2676676,OMIM:604370 17 41219397 41219397 G A 206306 single nucleotide variant NM_007294.3(BRCA1):c.5074+221A>G 142117419 MedGen:C2676676,OMIM:604370 17 43067387 43067387 T C 206306 single nucleotide variant NM_007294.3(BRCA1):c.5074+221A>G 142117419 MedGen:C2676676,OMIM:604370 17 41219404 41219404 T C 206307 single nucleotide variant NM_007294.3(BRCA1):c.5074+205G>A 113814958 MedGen:C2676676,OMIM:604370 17 43067403 43067403 C T 206307 single nucleotide variant NM_007294.3(BRCA1):c.5074+205G>A 113814958 MedGen:C2676676,OMIM:604370 17 41219420 41219420 C T 206308 single nucleotide variant NM_007294.3(BRCA1):c.4987-511T>C 8176231 MedGen:C2676676,OMIM:604370 17 43068206 43068206 A G 206308 single nucleotide variant NM_007294.3(BRCA1):c.4987-511T>C 8176231 MedGen:C2676676,OMIM:604370 17 41220223 41220223 A G 206309 single nucleotide variant NM_007294.3(BRCA1):c.4987-576G>A 8176229 MedGen:C2676676,OMIM:604370 17 43068271 43068271 C T 206309 single nucleotide variant NM_007294.3(BRCA1):c.4987-576G>A 8176229 MedGen:C2676676,OMIM:604370 17 41220288 41220288 C T 206310 single nucleotide variant NM_007294.3(BRCA1):c.4987-608G>T 8176228 MedGen:C2676676,OMIM:604370 17 43068303 43068303 C A 206310 single nucleotide variant NM_007294.3(BRCA1):c.4987-608G>T 8176228 MedGen:C2676676,OMIM:604370 17 41220320 41220320 C A 206311 single nucleotide variant NM_007294.3(BRCA1):c.4987-1060G>A 145869415 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43068755 43068755 C T 206311 single nucleotide variant NM_007294.3(BRCA1):c.4987-1060G>A 145869415 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41220772 41220772 C T 206312 single nucleotide variant NM_007294.3(BRCA1):c.4987-1466G>A 8176226 MedGen:C2676676,OMIM:604370 17 41221178 41221178 C T 206312 single nucleotide variant NM_007294.3(BRCA1):c.4987-1466G>A 8176226 MedGen:C2676676,OMIM:604370 17 43069161 43069161 C T 206313 single nucleotide variant NM_007294.3(BRCA1):c.4986+1349G>T 8176225 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41221596 41221596 C A 206313 single nucleotide variant NM_007294.3(BRCA1):c.4986+1349G>T 8176225 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43069579 43069579 C A 206314 single nucleotide variant NM_007294.3(BRCA1):c.4986+846G>A 8176222 MedGen:C2676676,OMIM:604370 17 43070082 43070082 C T 206314 single nucleotide variant NM_007294.3(BRCA1):c.4986+846G>A 8176222 MedGen:C2676676,OMIM:604370 17 41222099 41222099 C T 206315 single nucleotide variant NM_007294.3(BRCA1):c.4986+484A>T 8176221 MedGen:C2676676,OMIM:604370 17 43070444 43070444 T A 206315 single nucleotide variant NM_007294.3(BRCA1):c.4986+484A>T 8176221 MedGen:C2676676,OMIM:604370 17 41222461 41222461 T A 206316 single nucleotide variant NM_007294.3(BRCA1):c.4986+483T>C 8176220 MedGen:C2676676,OMIM:604370 17 43070445 43070445 A G 206316 single nucleotide variant NM_007294.3(BRCA1):c.4986+483T>C 8176220 MedGen:C2676676,OMIM:604370 17 41222462 41222462 A G 206317 single nucleotide variant NM_007294.3(BRCA1):c.4986+222A>G 3092987 MedGen:C2676676,OMIM:604370 17 43070706 43070706 T C 206317 single nucleotide variant NM_007294.3(BRCA1):c.4986+222A>G 3092987 MedGen:C2676676,OMIM:604370 17 41222723 41222723 T C 206318 deletion NM_007294.3(BRCA1):c.4676-777del 200424092 MedGen:C2676676,OMIM:604370 17 43072015 43072015 T - 206318 deletion NM_007294.3(BRCA1):c.4676-777del 200424092 MedGen:C2676676,OMIM:604370 17 41224032 41224032 T - 206319 single nucleotide variant NM_007294.3(BRCA1):c.4676-1011G>A 183687995 MedGen:C2676676,OMIM:604370 17 41224266 41224266 C T 206319 single nucleotide variant NM_007294.3(BRCA1):c.4676-1011G>A 183687995 MedGen:C2676676,OMIM:604370 17 43072249 43072249 C T 206320 single nucleotide variant NM_007294.3(BRCA1):c.4676-1025G>A 138082324 MedGen:C2676676,OMIM:604370 17 41224280 41224280 C T 206320 single nucleotide variant NM_007294.3(BRCA1):c.4676-1025G>A 138082324 MedGen:C2676676,OMIM:604370 17 43072263 43072263 C T 206321 single nucleotide variant NM_007294.3(BRCA1):c.4675+1515C>G 111499627 MedGen:C2676676,OMIM:604370 17 41224833 41224833 G C 206321 single nucleotide variant NM_007294.3(BRCA1):c.4675+1515C>G 111499627 MedGen:C2676676,OMIM:604370 17 43072816 43072816 G C 206322 single nucleotide variant NM_007294.3(BRCA1):c.4675+903C>T 74877299 MedGen:C2676676,OMIM:604370 17 41225445 41225445 G A 206322 single nucleotide variant NM_007294.3(BRCA1):c.4675+903C>T 74877299 MedGen:C2676676,OMIM:604370 17 43073428 43073428 G A 206323 deletion NM_007294.3(BRCA1):c.4675+693del 5820482 MedGen:C2676676,OMIM:604370 17 43073638 43073638 A - 206323 deletion NM_007294.3(BRCA1):c.4675+693del 5820482 MedGen:C2676676,OMIM:604370 17 41225655 41225655 A - 206324 single nucleotide variant NM_007294.3(BRCA1):c.4675+581T>C 8176217 MedGen:C2676676,OMIM:604370 17 43073750 43073750 A G 206324 single nucleotide variant NM_007294.3(BRCA1):c.4675+581T>C 8176217 MedGen:C2676676,OMIM:604370 17 41225767 41225767 A G 206325 single nucleotide variant NM_007294.3(BRCA1):c.4675+569T>A 182629224 MedGen:C2676676,OMIM:604370 17 41225779 41225779 A T 206325 single nucleotide variant NM_007294.3(BRCA1):c.4675+569T>A 182629224 MedGen:C2676676,OMIM:604370 17 43073762 43073762 A T 206326 single nucleotide variant NM_007294.3(BRCA1):c.4675+567T>A 8176216 MedGen:C2676676,OMIM:604370 17 43073764 43073764 A T 206326 single nucleotide variant NM_007294.3(BRCA1):c.4675+567T>A 8176216 MedGen:C2676676,OMIM:604370 17 41225781 41225781 A T 206327 single nucleotide variant NM_007294.3(BRCA1):c.4675+565T>A 8176215 MedGen:C2676676,OMIM:604370 17 43073766 43073766 A T 206327 single nucleotide variant NM_007294.3(BRCA1):c.4675+565T>A 8176215 MedGen:C2676676,OMIM:604370 17 41225783 41225783 A T 206328 single nucleotide variant NM_007294.3(BRCA1):c.4675+563A>T 190123841 MedGen:C2676676,OMIM:604370 17 43073768 43073768 T A 206328 single nucleotide variant NM_007294.3(BRCA1):c.4675+563A>T 190123841 MedGen:C2676676,OMIM:604370 17 41225785 41225785 T A 206329 single nucleotide variant NM_007294.3(BRCA1):c.4675+509A>G 8176214 MedGen:C2676676,OMIM:604370 17 43073822 43073822 T C 206329 single nucleotide variant NM_007294.3(BRCA1):c.4675+509A>G 8176214 MedGen:C2676676,OMIM:604370 17 41225839 41225839 T C 206330 single nucleotide variant NM_007294.3(BRCA1):c.4675+315A>C 2236763 MedGen:C2676676,OMIM:604370 17 43074016 43074016 T G 206330 single nucleotide variant NM_007294.3(BRCA1):c.4675+315A>C 2236763 MedGen:C2676676,OMIM:604370 17 41226033 41226033 T G 206331 single nucleotide variant NM_007294.3(BRCA1):c.4675+105G>A 8176213 MedGen:C2676676,OMIM:604370 17 41226243 41226243 C T 206331 single nucleotide variant NM_007294.3(BRCA1):c.4675+105G>A 8176213 MedGen:C2676676,OMIM:604370 17 43074226 43074226 C T 206332 single nucleotide variant NM_007294.3(BRCA1):c.4485-63C>G 273900734 MedGen:C2676676,OMIM:604370 17 43074584 43074584 G C 206332 single nucleotide variant NM_007294.3(BRCA1):c.4485-63C>G 273900734 MedGen:C2676676,OMIM:604370 17 41226601 41226601 G C 206333 single nucleotide variant NM_007294.3(BRCA1):c.4485-137T>A 2236762 MedGen:C2676676,OMIM:604370 17 43074658 43074658 A T 206333 single nucleotide variant NM_007294.3(BRCA1):c.4485-137T>A 2236762 MedGen:C2676676,OMIM:604370 17 41226675 41226675 A T 206334 deletion NM_007294.3(BRCA1):c.4485-203_4485-199del 34250703 MedGen:C2676676,OMIM:604370 17 41226737 41226741 GGGTT - 206334 deletion NM_007294.3(BRCA1):c.4485-203_4485-199del 34250703 MedGen:C2676676,OMIM:604370 17 43074720 43074724 GGGTT - 206335 single nucleotide variant NM_007294.3(BRCA1):c.4485-340G>A 8176209 MedGen:C2676676,OMIM:604370 17 41226878 41226878 C T 206335 single nucleotide variant NM_007294.3(BRCA1):c.4485-340G>A 8176209 MedGen:C2676676,OMIM:604370 17 43074861 43074861 C T 206336 insertion NM_007294.3(BRCA1):c.4485-546_4485-545insTTCC 8176207 MedGen:C2676676,OMIM:604370 17 41227083 41227084 - GGAA 206336 insertion NM_007294.3(BRCA1):c.4485-546_4485-545insTTCC 8176207 MedGen:C2676676,OMIM:604370 17 43075066 43075067 - GGAA 206337 single nucleotide variant NM_007294.3(BRCA1):c.4484+899C>T 181392764 MedGen:C2676676,OMIM:604370 17 41227606 41227606 G A 206337 single nucleotide variant NM_007294.3(BRCA1):c.4484+899C>T 181392764 MedGen:C2676676,OMIM:604370 17 43075589 43075589 G A 206338 single nucleotide variant NM_007294.3(BRCA1):c.4484+463C>T 56295923 MedGen:C2676676,OMIM:604370 17 43076025 43076025 G A 206338 single nucleotide variant NM_007294.3(BRCA1):c.4484+463C>T 56295923 MedGen:C2676676,OMIM:604370 17 41228042 41228042 G A 206339 single nucleotide variant NM_007294.3(BRCA1):c.4484+385A>G 8176206 MedGen:C2676676,OMIM:604370 17 41228120 41228120 T C 206339 single nucleotide variant NM_007294.3(BRCA1):c.4484+385A>G 8176206 MedGen:C2676676,OMIM:604370 17 43076103 43076103 T C 206340 single nucleotide variant NM_007294.3(BRCA1):c.4358-755A>G 12940378 MedGen:C2676676,OMIM:604370 17 41229386 41229386 T C 206340 single nucleotide variant NM_007294.3(BRCA1):c.4358-755A>G 12940378 MedGen:C2676676,OMIM:604370 17 43077369 43077369 T C 206341 deletion NM_007294.3(BRCA1):c.4358-1130del 8176205 MedGen:C2676676,OMIM:604370 17 41229761 41229761 T - 206341 deletion NM_007294.3(BRCA1):c.4358-1130del 8176205 MedGen:C2676676,OMIM:604370 17 43077744 43077744 T - 206342 duplication NM_007294.3(BRCA1):c.4358-1147dupA 11368665 MedGen:C2676676,OMIM:604370 17 43077761 43077761 T TT 206342 duplication NM_007294.3(BRCA1):c.4358-1147dupA 11368665 MedGen:C2676676,OMIM:604370 17 41229778 41229778 T TT 206343 single nucleotide variant NM_007294.3(BRCA1):c.4358-1181T>C 4239147 MedGen:C2676676,OMIM:604370 17 41229812 41229812 A G 206343 single nucleotide variant NM_007294.3(BRCA1):c.4358-1181T>C 4239147 MedGen:C2676676,OMIM:604370 17 43077795 43077795 A G 206344 single nucleotide variant NM_007294.3(BRCA1):c.4358-1226C>T 4239148 MedGen:C2676676,OMIM:604370 17 41229857 41229857 G A 206344 single nucleotide variant NM_007294.3(BRCA1):c.4358-1226C>T 4239148 MedGen:C2676676,OMIM:604370 17 43077840 43077840 G A 206345 single nucleotide variant NM_007294.3(BRCA1):c.4358-1277A>T 4318274 MedGen:C2676676,OMIM:604370 17 43077891 43077891 T A 206345 single nucleotide variant NM_007294.3(BRCA1):c.4358-1277A>T 4318274 MedGen:C2676676,OMIM:604370 17 41229908 41229908 T A 206346 single nucleotide variant NM_007294.3(BRCA1):c.4358-1413C>T 117089582 MedGen:C2676676,OMIM:604370 17 43078027 43078027 G A 206346 single nucleotide variant NM_007294.3(BRCA1):c.4358-1413C>T 117089582 MedGen:C2676676,OMIM:604370 17 41230044 41230044 G A 206347 single nucleotide variant NM_007294.3(BRCA1):c.4358-1597C>T 8176202 MedGen:C2676676,OMIM:604370 17 41230228 41230228 G A 206347 single nucleotide variant NM_007294.3(BRCA1):c.4358-1597C>T 8176202 MedGen:C2676676,OMIM:604370 17 43078211 43078211 G A 206348 single nucleotide variant NM_007294.3(BRCA1):c.4358-1705T>C 8176201 MedGen:C2676676,OMIM:604370 17 41230336 41230336 A G 206348 single nucleotide variant NM_007294.3(BRCA1):c.4358-1705T>C 8176201 MedGen:C2676676,OMIM:604370 17 43078319 43078319 A G 206349 single nucleotide variant NM_007294.3(BRCA1):c.4358-1745T>C 8176200 MedGen:C2676676,OMIM:604370 17 43078359 43078359 A G 206349 single nucleotide variant NM_007294.3(BRCA1):c.4358-1745T>C 8176200 MedGen:C2676676,OMIM:604370 17 41230376 41230376 A G 206350 single nucleotide variant NM_007294.3(BRCA1):c.4358-1893A>C 8176199 MedGen:C2676676,OMIM:604370 17 41230524 41230524 T G 206350 single nucleotide variant NM_007294.3(BRCA1):c.4358-1893A>C 8176199 MedGen:C2676676,OMIM:604370 17 43078507 43078507 T G 206351 single nucleotide variant NM_007294.3(BRCA1):c.4358-1906T>A 8176198 MedGen:C2676676,OMIM:604370 17 43078520 43078520 A T 206351 single nucleotide variant NM_007294.3(BRCA1):c.4358-1906T>A 8176198 MedGen:C2676676,OMIM:604370 17 41230537 41230537 A T 206352 single nucleotide variant NM_007294.3(BRCA1):c.4358-2324C>T 111819895 MedGen:C2676676,OMIM:604370 17 41230955 41230955 G A 206352 single nucleotide variant NM_007294.3(BRCA1):c.4358-2324C>T 111819895 MedGen:C2676676,OMIM:604370 17 43078938 43078938 G A 206353 single nucleotide variant NM_007294.3(BRCA1):c.4358-2351G>A 8176197 MedGen:C2676676,OMIM:604370 17 43078965 43078965 C T 206353 single nucleotide variant NM_007294.3(BRCA1):c.4358-2351G>A 8176197 MedGen:C2676676,OMIM:604370 17 41230982 41230982 C T 206354 single nucleotide variant NM_007294.3(BRCA1):c.4358-2359T>C 8176196 MedGen:C2676676,OMIM:604370 17 41230990 41230990 A G 206354 single nucleotide variant NM_007294.3(BRCA1):c.4358-2359T>C 8176196 MedGen:C2676676,OMIM:604370 17 43078973 43078973 A G 206355 single nucleotide variant NM_007294.3(BRCA1):c.4358-2455C>T 147065412 MedGen:C2676676,OMIM:604370 17 43079069 43079069 G A 206355 single nucleotide variant NM_007294.3(BRCA1):c.4358-2455C>T 147065412 MedGen:C2676676,OMIM:604370 17 41231086 41231086 G A 206356 single nucleotide variant NM_007294.3(BRCA1):c.4358-2590T>G 8176194 MedGen:C2676676,OMIM:604370 17 41231221 41231221 A C 206356 single nucleotide variant NM_007294.3(BRCA1):c.4358-2590T>G 8176194 MedGen:C2676676,OMIM:604370 17 43079204 43079204 A C 206357 single nucleotide variant NM_007294.3(BRCA1):c.4358-2885G>A 8176193 MedGen:C2676676,OMIM:604370 17 43079499 43079499 C T 206357 single nucleotide variant NM_007294.3(BRCA1):c.4358-2885G>A 8176193 MedGen:C2676676,OMIM:604370 17 41231516 41231516 C T 206358 single nucleotide variant NM_007294.3(BRCA1):c.4357+2723C>G 8176192 MedGen:C2676676,OMIM:604370 17 41231698 41231698 G C 206358 single nucleotide variant NM_007294.3(BRCA1):c.4357+2723C>G 8176192 MedGen:C2676676,OMIM:604370 17 43079681 43079681 G C 206359 single nucleotide variant NM_007294.3(BRCA1):c.4357+2519C>T 4793197 MedGen:C2676676,OMIM:604370 17 43079885 43079885 G A 206359 single nucleotide variant NM_007294.3(BRCA1):c.4357+2519C>T 4793197 MedGen:C2676676,OMIM:604370 17 41231902 41231902 G A 206360 single nucleotide variant NM_007294.3(BRCA1):c.4357+2128T>C 77008361 MedGen:C2676676,OMIM:604370 17 43080276 43080276 A G 206360 single nucleotide variant NM_007294.3(BRCA1):c.4357+2128T>C 77008361 MedGen:C2676676,OMIM:604370 17 41232293 41232293 A G 206361 single nucleotide variant NM_007294.3(BRCA1):c.4357+2077C>G 6416927 MedGen:C2676676,OMIM:604370 17 41232344 41232344 G C 206361 single nucleotide variant NM_007294.3(BRCA1):c.4357+2077C>G 6416927 MedGen:C2676676,OMIM:604370 17 43080327 43080327 G C 206362 single nucleotide variant NM_007294.3(BRCA1):c.4357+2045G>T 143578208 MedGen:C2676676,OMIM:604370 17 41232376 41232376 C A 206362 single nucleotide variant NM_007294.3(BRCA1):c.4357+2045G>T 143578208 MedGen:C2676676,OMIM:604370 17 43080359 43080359 C A 206363 single nucleotide variant NM_007294.3(BRCA1):c.4357+1723G>A 8176190 MedGen:C2676676,OMIM:604370 17 43080681 43080681 C T 206363 single nucleotide variant NM_007294.3(BRCA1):c.4357+1723G>A 8176190 MedGen:C2676676,OMIM:604370 17 41232698 41232698 C T 206364 single nucleotide variant NM_007294.3(BRCA1):c.4357+1563T>G 8176188 MedGen:C2676676,OMIM:604370 17 41232858 41232858 A C 206364 single nucleotide variant NM_007294.3(BRCA1):c.4357+1563T>G 8176188 MedGen:C2676676,OMIM:604370 17 43080841 43080841 A C 206365 duplication NM_007294.3(BRCA1):c.4357+1513dupT 200147389 MedGen:C2676676,OMIM:604370 17 41232908 41232908 A AA 206365 duplication NM_007294.3(BRCA1):c.4357+1513dupT 200147389 MedGen:C2676676,OMIM:604370 17 43080891 43080891 A AA 206366 single nucleotide variant NM_007294.3(BRCA1):c.4357+1386T>C 77473713 MedGen:C2676676,OMIM:604370 17 43081018 43081018 A G 206366 single nucleotide variant NM_007294.3(BRCA1):c.4357+1386T>C 77473713 MedGen:C2676676,OMIM:604370 17 41233035 41233035 A G 206367 single nucleotide variant NM_007294.3(BRCA1):c.4357+1212T>C 8176187 MedGen:C2676676,OMIM:604370 17 43081192 43081192 A G 206367 single nucleotide variant NM_007294.3(BRCA1):c.4357+1212T>C 8176187 MedGen:C2676676,OMIM:604370 17 41233209 41233209 A G 206368 single nucleotide variant NM_007294.3(BRCA1):c.4357+877C>G 150670602 MedGen:C2676676,OMIM:604370 17 41233544 41233544 G C 206368 single nucleotide variant NM_007294.3(BRCA1):c.4357+877C>G 150670602 MedGen:C2676676,OMIM:604370 17 43081527 43081527 G C 206369 single nucleotide variant NM_007294.3(BRCA1):c.4357+794G>A 8176186 MedGen:C2676676,OMIM:604370 17 41233627 41233627 C T 206369 single nucleotide variant NM_007294.3(BRCA1):c.4357+794G>A 8176186 MedGen:C2676676,OMIM:604370 17 43081610 43081610 C T 206370 single nucleotide variant NM_007294.3(BRCA1):c.4357+380A>G 8176185 MedGen:C2676676,OMIM:604370 17 43082024 43082024 T C 206370 single nucleotide variant NM_007294.3(BRCA1):c.4357+380A>G 8176185 MedGen:C2676676,OMIM:604370 17 41234041 41234041 T C 206371 single nucleotide variant NM_007294.3(BRCA1):c.4186-514T>C 75754723 MedGen:C2676676,OMIM:604370 17 43083089 43083089 A G 206371 single nucleotide variant NM_007294.3(BRCA1):c.4186-514T>C 75754723 MedGen:C2676676,OMIM:604370 17 41235106 41235106 A G 206372 single nucleotide variant NM_007294.3(BRCA1):c.4186-1207C>T 8067269 MedGen:C2676676,OMIM:604370 17 41235799 41235799 G A 206372 single nucleotide variant NM_007294.3(BRCA1):c.4186-1207C>T 8067269 MedGen:C2676676,OMIM:604370 17 43083782 43083782 G A 206373 single nucleotide variant NM_007294.3(BRCA1):c.4186-1247A>T 8176182 MedGen:C2676676,OMIM:604370 17 43083822 43083822 T A 206373 single nucleotide variant NM_007294.3(BRCA1):c.4186-1247A>T 8176182 MedGen:C2676676,OMIM:604370 17 41235839 41235839 T A 206374 single nucleotide variant NM_007294.3(BRCA1):c.4186-1451C>T 8176181 MedGen:C2676676,OMIM:604370 17 43084026 43084026 G A 206374 single nucleotide variant NM_007294.3(BRCA1):c.4186-1451C>T 8176181 MedGen:C2676676,OMIM:604370 17 41236043 41236043 G A 206375 single nucleotide variant NM_007294.3(BRCA1):c.4186-2050A>G 8176178 MedGen:C2676676,OMIM:604370 17 41236642 41236642 T C 206375 single nucleotide variant NM_007294.3(BRCA1):c.4186-2050A>G 8176178 MedGen:C2676676,OMIM:604370 17 43084625 43084625 T C 206376 single nucleotide variant NM_007294.3(BRCA1):c.4186-2483A>G 8176177 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43085058 43085058 T C 206376 single nucleotide variant NM_007294.3(BRCA1):c.4186-2483A>G 8176177 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41237075 41237075 T C 206377 single nucleotide variant NM_007294.3(BRCA1):c.4186-2852T>C 8176176 MedGen:C2676676,OMIM:604370 17 41237444 41237444 A G 206377 single nucleotide variant NM_007294.3(BRCA1):c.4186-2852T>C 8176176 MedGen:C2676676,OMIM:604370 17 43085427 43085427 A G 206378 duplication NM_007294.3(BRCA1):c.4186-3102dupT 8176175 MedGen:C2676676,OMIM:604370 17 43085677 43085677 A AA 206378 duplication NM_007294.3(BRCA1):c.4186-3102dupT 8176175 MedGen:C2676676,OMIM:604370 17 41237694 41237694 A AA 206379 single nucleotide variant NM_007294.3(BRCA1):c.4186-3361C>T 3950989 MedGen:C2676676,OMIM:604370 17 41237953 41237953 G A 206379 single nucleotide variant NM_007294.3(BRCA1):c.4186-3361C>T 3950989 MedGen:C2676676,OMIM:604370 17 43085936 43085936 G A 206380 single nucleotide variant NM_007294.3(BRCA1):c.4186-3420A>T 8176174 MedGen:C2676676,OMIM:604370 17 43085995 43085995 T A 206380 single nucleotide variant NM_007294.3(BRCA1):c.4186-3420A>T 8176174 MedGen:C2676676,OMIM:604370 17 41238012 41238012 T A 206381 single nucleotide variant NM_007294.3(BRCA1):c.4186-3910T>C 151196052 MedGen:C2676676,OMIM:604370 17 41238502 41238502 A G 206381 single nucleotide variant NM_007294.3(BRCA1):c.4186-3910T>C 151196052 MedGen:C2676676,OMIM:604370 17 43086485 43086485 A G 206382 single nucleotide variant NM_007294.3(BRCA1):c.4186-4027G>A 8176173 MedGen:C2676676,OMIM:604370 17 41238619 41238619 C T 206382 single nucleotide variant NM_007294.3(BRCA1):c.4186-4027G>A 8176173 MedGen:C2676676,OMIM:604370 17 43086602 43086602 C T 206383 single nucleotide variant NM_007294.3(BRCA1):c.4185+3489C>T 8176171 MedGen:C2676676,OMIM:604370 17 43087455 43087455 G A 206383 single nucleotide variant NM_007294.3(BRCA1):c.4185+3489C>T 8176171 MedGen:C2676676,OMIM:604370 17 41239472 41239472 G A 206384 single nucleotide variant NM_007294.3(BRCA1):c.4185+3470A>G 8176170 MedGen:C2676676,OMIM:604370 17 41239491 41239491 T C 206384 single nucleotide variant NM_007294.3(BRCA1):c.4185+3470A>G 8176170 MedGen:C2676676,OMIM:604370 17 43087474 43087474 T C 206385 single nucleotide variant NM_007294.3(BRCA1):c.4185+3333T>C 8176168 MedGen:C2676676,OMIM:604370 17 41239628 41239628 A G 206385 single nucleotide variant NM_007294.3(BRCA1):c.4185+3333T>C 8176168 MedGen:C2676676,OMIM:604370 17 43087611 43087611 A G 206386 single nucleotide variant NM_007294.3(BRCA1):c.4185+2684A>G 8176166 MedGen:C2676676,OMIM:604370 17 43088260 43088260 T C 206386 single nucleotide variant NM_007294.3(BRCA1):c.4185+2684A>G 8176166 MedGen:C2676676,OMIM:604370 17 41240277 41240277 T C 206387 single nucleotide variant NM_007294.3(BRCA1):c.4185+2361G>A 147509580 MedGen:C2676676,OMIM:604370 17 43088583 43088583 C T 206387 single nucleotide variant NM_007294.3(BRCA1):c.4185+2361G>A 147509580 MedGen:C2676676,OMIM:604370 17 41240600 41240600 C T 206388 single nucleotide variant NM_007294.3(BRCA1):c.4185+2211C>T 8176165 MedGen:C2676676,OMIM:604370 17 43088733 43088733 G A 206388 single nucleotide variant NM_007294.3(BRCA1):c.4185+2211C>T 8176165 MedGen:C2676676,OMIM:604370 17 41240750 41240750 G A 206389 single nucleotide variant NM_007294.3(BRCA1):c.4185+2046T>C 8176163 MedGen:C2676676,OMIM:604370 17 43088898 43088898 A G 206389 single nucleotide variant NM_007294.3(BRCA1):c.4185+2046T>C 8176163 MedGen:C2676676,OMIM:604370 17 41240915 41240915 A G 206390 single nucleotide variant NM_007294.3(BRCA1):c.4185+1787T>G 8176162 MedGen:C2676676,OMIM:604370 17 43089157 43089157 A C 206390 single nucleotide variant NM_007294.3(BRCA1):c.4185+1787T>G 8176162 MedGen:C2676676,OMIM:604370 17 41241174 41241174 A C 206391 single nucleotide variant NM_007294.3(BRCA1):c.4185+1571G>T 8176161 MedGen:C2676676,OMIM:604370 17 43089373 43089373 C A 206391 single nucleotide variant NM_007294.3(BRCA1):c.4185+1571G>T 8176161 MedGen:C2676676,OMIM:604370 17 41241390 41241390 C A 206392 single nucleotide variant NM_007294.3(BRCA1):c.4185+1458A>G 8176160 MedGen:C2676676,OMIM:604370 17 43089486 43089486 T C 206392 single nucleotide variant NM_007294.3(BRCA1):c.4185+1458A>G 8176160 MedGen:C2676676,OMIM:604370 17 41241503 41241503 T C 206393 insertion NM_007294.3(BRCA1):c.4185+1393_4185+1394insGA 201979969 MedGen:C2676676,OMIM:604370 17 41241567 41241568 - TC 206393 insertion NM_007294.3(BRCA1):c.4185+1393_4185+1394insGA 201979969 MedGen:C2676676,OMIM:604370 17 43089550 43089551 - TC 206394 insertion NM_007294.3(BRCA1):c.4185+1392_4185+1393insG 34293035 MedGen:C2676676,OMIM:604370 17 43089551 43089552 - C 206394 insertion NM_007294.3(BRCA1):c.4185+1392_4185+1393insG 34293035 MedGen:C2676676,OMIM:604370 17 41241568 41241569 - C 206395 deletion NM_007294.3(BRCA1):c.4185+883_4185+885del 200781379 MedGen:C2676676,OMIM:604370 17 43090059 43090061 AAG - 206395 deletion NM_007294.3(BRCA1):c.4185+883_4185+885del 200781379 MedGen:C2676676,OMIM:604370 17 41242076 41242078 AAG - 206396 deletion NM_007294.3(BRCA1):c.4185+880del 200098203 MedGen:C2676676,OMIM:604370 17 41242081 41242081 G - 206396 deletion NM_007294.3(BRCA1):c.4185+880del 200098203 MedGen:C2676676,OMIM:604370 17 43090064 43090064 G - 206397 deletion NM_007294.3(BRCA1):c.4185+879del 77684117 MedGen:C2676676,OMIM:604370 17 41242082 41242082 A - 206397 deletion NM_007294.3(BRCA1):c.4185+879del 77684117 MedGen:C2676676,OMIM:604370 17 43090065 43090065 A - 206398 single nucleotide variant NM_007294.3(BRCA1):c.4185+676A>C 2070834 MedGen:C2676676,OMIM:604370 17 43090268 43090268 T G 206398 single nucleotide variant NM_007294.3(BRCA1):c.4185+676A>C 2070834 MedGen:C2676676,OMIM:604370 17 41242285 41242285 T G 206399 single nucleotide variant NM_007294.3(BRCA1):c.4185+563A>G 8176155 MedGen:C2676676,OMIM:604370 17 41242398 41242398 T C 206399 single nucleotide variant NM_007294.3(BRCA1):c.4185+563A>G 8176155 MedGen:C2676676,OMIM:604370 17 43090381 43090381 T C 206400 single nucleotide variant NM_007294.3(BRCA1):c.4185+355C>T 148953585 MedGen:C2676676,OMIM:604370 17 41242606 41242606 G A 206400 single nucleotide variant NM_007294.3(BRCA1):c.4185+355C>T 148953585 MedGen:C2676676,OMIM:604370 17 43090589 43090589 G A 206402 single nucleotide variant NM_007294.3(BRCA1):c.4185+112C>A 2070833 MedGen:C2676676,OMIM:604370 17 41242849 41242849 G T 206402 single nucleotide variant NM_007294.3(BRCA1):c.4185+112C>A 2070833 MedGen:C2676676,OMIM:604370 17 43090832 43090832 G T 206403 single nucleotide variant NM_007294.3(BRCA1):c.671-178G>A 8176151 MedGen:C2676676,OMIM:604370 17 43095038 43095038 C T 206403 single nucleotide variant NM_007294.3(BRCA1):c.671-178G>A 8176151 MedGen:C2676676,OMIM:604370 17 41247055 41247055 C T 206404 insertion NM_007294.3(BRCA1):c.671-244_671-243insGTA 200368134 MedGen:C2676676,OMIM:604370 17 41247120 41247121 - TAC 206404 insertion NM_007294.3(BRCA1):c.671-244_671-243insGTA 200368134 MedGen:C2676676,OMIM:604370 17 43095103 43095104 - TAC 206406 single nucleotide variant NM_007294.3(BRCA1):c.670+259T>G 7503154 MedGen:C2676676,OMIM:604370 17 41247604 41247604 A C 206406 single nucleotide variant NM_007294.3(BRCA1):c.670+259T>G 7503154 MedGen:C2676676,OMIM:604370 17 43095587 43095587 A C 206407 single nucleotide variant NM_007294.3(BRCA1):c.670+256T>G 182524124 MedGen:C2676676,OMIM:604370 17 43095590 43095590 A C 206407 single nucleotide variant NM_007294.3(BRCA1):c.670+256T>G 182524124 MedGen:C2676676,OMIM:604370 17 41247607 41247607 A C 206408 single nucleotide variant NM_007294.3(BRCA1):c.594-225G>A 8176147 MedGen:C2676676,OMIM:604370 17 41248164 41248164 C T 206408 single nucleotide variant NM_007294.3(BRCA1):c.594-225G>A 8176147 MedGen:C2676676,OMIM:604370 17 43096147 43096147 C T 206409 single nucleotide variant NM_007294.3(BRCA1):c.594-545C>G 66499067 MedGen:C2676676,OMIM:604370 17 43096467 43096467 G C 206409 single nucleotide variant NM_007294.3(BRCA1):c.594-545C>G 66499067 MedGen:C2676676,OMIM:604370 17 41248484 41248484 G C 206410 single nucleotide variant NM_007294.3(BRCA1):c.593+167T>C 8176145 MedGen:C2676676,OMIM:604370 17 43097077 43097077 A G 206410 single nucleotide variant NM_007294.3(BRCA1):c.593+167T>C 8176145 MedGen:C2676676,OMIM:604370 17 41249094 41249094 A G 206411 single nucleotide variant NM_007294.3(BRCA1):c.548-80T>C 8176143 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43097369 43097369 A G 206411 single nucleotide variant NM_007294.3(BRCA1):c.548-80T>C 8176143 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41249386 41249386 A G 206412 single nucleotide variant NM_007294.3(BRCA1):c.548-293G>A 117281398 MedGen:C2676676,OMIM:604370 17 43097582 43097582 C T 206412 single nucleotide variant NM_007294.3(BRCA1):c.548-293G>A 117281398 MedGen:C2676676,OMIM:604370 17 41249599 41249599 C T 206413 single nucleotide variant NM_007294.3(BRCA1):c.548-721C>G 799918 MedGen:C2676676,OMIM:604370 17 41250027 41250027 G C 206413 single nucleotide variant NM_007294.3(BRCA1):c.548-721C>G 799918 MedGen:C2676676,OMIM:604370 17 43098010 43098010 G C 206414 deletion NM_007294.3(BRCA1):c.548-916del 200081820 MedGen:C2676676,OMIM:604370 17 43098205 43098205 T - 206414 deletion NM_007294.3(BRCA1):c.548-916del 200081820 MedGen:C2676676,OMIM:604370 17 41250222 41250222 T - 206415 single nucleotide variant NM_007294.3(BRCA1):c.548-1135A>G 145668291 MedGen:C2676676,OMIM:604370 17 43098424 43098424 T C 206415 single nucleotide variant NM_007294.3(BRCA1):c.548-1135A>G 145668291 MedGen:C2676676,OMIM:604370 17 41250441 41250441 T C 206416 single nucleotide variant NM_007294.3(BRCA1):c.547+1209G>A 181936042 MedGen:C2676676,OMIM:604370 17 43098566 43098566 C T 206416 single nucleotide variant NM_007294.3(BRCA1):c.547+1209G>A 181936042 MedGen:C2676676,OMIM:604370 17 41250583 41250583 C T 206417 insertion NM_007294.3(BRCA1):c.547+1113_547+1114insA 35693790 MedGen:C2676676,OMIM:604370 17 43098661 43098662 - T 206417 insertion NM_007294.3(BRCA1):c.547+1113_547+1114insA 35693790 MedGen:C2676676,OMIM:604370 17 41250678 41250679 - T 206418 single nucleotide variant NM_007294.3(BRCA1):c.547+898C>G 143460481 MedGen:C2676676,OMIM:604370 17 43098877 43098877 G C 206418 single nucleotide variant NM_007294.3(BRCA1):c.547+898C>G 143460481 MedGen:C2676676,OMIM:604370 17 41250894 41250894 G C 206419 single nucleotide variant NM_007294.3(BRCA1):c.547+869A>G 799919 MedGen:C2676676,OMIM:604370 17 43098906 43098906 T C 206419 single nucleotide variant NM_007294.3(BRCA1):c.547+869A>G 799919 MedGen:C2676676,OMIM:604370 17 41250923 41250923 T C 206420 deletion NM_007294.3(BRCA1):c.547+364_547+365del 201060127 MedGen:C2676676,OMIM:604370 17 43099410 43099411 AC - 206420 deletion NM_007294.3(BRCA1):c.547+364_547+365del 201060127 MedGen:C2676676,OMIM:604370 17 41251427 41251428 AC - 206421 single nucleotide variant NM_007294.3(BRCA1):c.547+322A>G 142085161 MedGen:C2676676,OMIM:604370 17 41251470 41251470 T C 206421 single nucleotide variant NM_007294.3(BRCA1):c.547+322A>G 142085161 MedGen:C2676676,OMIM:604370 17 43099453 43099453 T C 206422 single nucleotide variant NM_007294.3(BRCA1):c.547+297G>C 8176141 MedGen:C2676676,OMIM:604370 17 41251495 41251495 C G 206422 single nucleotide variant NM_007294.3(BRCA1):c.547+297G>C 8176141 MedGen:C2676676,OMIM:604370 17 43099478 43099478 C G 206423 single nucleotide variant NM_007294.3(BRCA1):c.547+284C>T 7219966 MedGen:C2676676,OMIM:604370 17 41251508 41251508 G A 206423 single nucleotide variant NM_007294.3(BRCA1):c.547+284C>T 7219966 MedGen:C2676676,OMIM:604370 17 43099491 43099491 G A 206424 single nucleotide variant NM_007294.3(BRCA1):c.442-678C>T 10445316 MedGen:C2676676,OMIM:604370 17 41252575 41252575 G A 206424 single nucleotide variant NM_007294.3(BRCA1):c.442-678C>T 10445316 MedGen:C2676676,OMIM:604370 17 43100558 43100558 G A 206425 deletion NM_007294.3(BRCA1):c.442-680_442-679del 796093926 MedGen:C2676676,OMIM:604370 17 43100559 43100560 TA - 206425 deletion NM_007294.3(BRCA1):c.442-680_442-679del 796093926 MedGen:C2676676,OMIM:604370 17 41252576 41252577 TA - 206426 single nucleotide variant NM_007294.3(BRCA1):c.442-680T>C 799924 MedGen:C2676676,OMIM:604370 17 43100560 43100560 A G 206426 single nucleotide variant NM_007294.3(BRCA1):c.442-680T>C 799924 MedGen:C2676676,OMIM:604370 17 41252577 41252577 A G 206428 deletion NM_007294.3(BRCA1):c.442-707_442-706del 201678971 MedGen:C2676676,OMIM:604370 17 41252603 41252604 AT - 206428 deletion NM_007294.3(BRCA1):c.442-707_442-706del 201678971 MedGen:C2676676,OMIM:604370 17 43100586 43100587 AT - 206429 single nucleotide variant NM_007294.3(BRCA1):c.442-714T>C 799925 MedGen:C2676676,OMIM:604370 17 41252611 41252611 A G 206429 single nucleotide variant NM_007294.3(BRCA1):c.442-714T>C 799925 MedGen:C2676676,OMIM:604370 17 43100594 43100594 A G 206430 single nucleotide variant NM_007294.3(BRCA1):c.442-715A>T 10445317 MedGen:C2676676,OMIM:604370 17 41252612 41252612 T A 206430 single nucleotide variant NM_007294.3(BRCA1):c.442-715A>T 10445317 MedGen:C2676676,OMIM:604370 17 43100595 43100595 T A 206431 single nucleotide variant NM_007294.3(BRCA1):c.442-716A>G 10445318 MedGen:C2676676,OMIM:604370 17 41252613 41252613 T C 206431 single nucleotide variant NM_007294.3(BRCA1):c.442-716A>G 10445318 MedGen:C2676676,OMIM:604370 17 43100596 43100596 T C 206432 insertion NM_007294.3(BRCA1):c.442-730_442-729insAT 200083681 MedGen:C2676676,OMIM:604370 17 43100609 43100610 - AT 206432 insertion NM_007294.3(BRCA1):c.442-730_442-729insAT 200083681 MedGen:C2676676,OMIM:604370 17 41252626 41252627 - AT 206433 single nucleotide variant NM_007294.3(BRCA1):c.442-983G>A 148500539 MedGen:C2676676,OMIM:604370 17 41252880 41252880 C T 206433 single nucleotide variant NM_007294.3(BRCA1):c.442-983G>A 148500539 MedGen:C2676676,OMIM:604370 17 43100863 43100863 C T 206434 single nucleotide variant NM_007294.3(BRCA1):c.442-1431G>A 111387199 MedGen:C2676676,OMIM:604370 17 43101311 43101311 C T 206434 single nucleotide variant NM_007294.3(BRCA1):c.442-1431G>A 111387199 MedGen:C2676676,OMIM:604370 17 41253328 41253328 C T 206435 single nucleotide variant NM_007294.3(BRCA1):c.442-1770C>G 142854457 MedGen:C2676676,OMIM:604370 17 43101650 43101650 G C 206435 single nucleotide variant NM_007294.3(BRCA1):c.442-1770C>G 142854457 MedGen:C2676676,OMIM:604370 17 41253667 41253667 G C 206436 single nucleotide variant NM_007294.3(BRCA1):c.441+1990C>T 183687593 MedGen:C2676676,OMIM:604370 17 43102132 43102132 G A 206436 single nucleotide variant NM_007294.3(BRCA1):c.441+1990C>T 183687593 MedGen:C2676676,OMIM:604370 17 41254149 41254149 G A 206437 single nucleotide variant NM_007294.3(BRCA1):c.441+1965T>C 10445320 MedGen:C2676676,OMIM:604370 17 43102157 43102157 A G 206437 single nucleotide variant NM_007294.3(BRCA1):c.441+1965T>C 10445320 MedGen:C2676676,OMIM:604370 17 41254174 41254174 A G 206438 single nucleotide variant NM_007294.3(BRCA1):c.441+1653A>C 10445321 MedGen:C2676676,OMIM:604370 17 43102469 43102469 T G 206438 single nucleotide variant NM_007294.3(BRCA1):c.441+1653A>C 10445321 MedGen:C2676676,OMIM:604370 17 41254486 41254486 T G 206439 single nucleotide variant NM_007294.3(BRCA1):c.441+1416C>T 34765977 MedGen:C2676676,OMIM:604370 17 43102706 43102706 G A 206439 single nucleotide variant NM_007294.3(BRCA1):c.441+1416C>T 34765977 MedGen:C2676676,OMIM:604370 17 41254723 41254723 G A 206440 single nucleotide variant NM_007294.3(BRCA1):c.441+1379G>T 139218576 MedGen:C2676676,OMIM:604370 17 43102743 43102743 C A 206440 single nucleotide variant NM_007294.3(BRCA1):c.441+1379G>T 139218576 MedGen:C2676676,OMIM:604370 17 41254760 41254760 C A 206441 single nucleotide variant NM_007294.3(BRCA1):c.441+1321G>A 149949159 MedGen:C2676676,OMIM:604370 17 43102801 43102801 C T 206441 single nucleotide variant NM_007294.3(BRCA1):c.441+1321G>A 149949159 MedGen:C2676676,OMIM:604370 17 41254818 41254818 C T 206442 single nucleotide variant NM_007294.3(BRCA1):c.441+1037T>C 67060599 MedGen:C2676676,OMIM:604370 17 43103085 43103085 A G 206442 single nucleotide variant NM_007294.3(BRCA1):c.441+1037T>C 67060599 MedGen:C2676676,OMIM:604370 17 41255102 41255102 A G 206443 single nucleotide variant NM_007294.3(BRCA1):c.441+1028T>A 35908185 MedGen:C2676676,OMIM:604370 17 43103094 43103094 A T 206443 single nucleotide variant NM_007294.3(BRCA1):c.441+1028T>A 35908185 MedGen:C2676676,OMIM:604370 17 41255111 41255111 A T 206444 single nucleotide variant NM_007294.3(BRCA1):c.441+868C>T 184910839 MedGen:C2676676,OMIM:604370 17 43103254 43103254 G A 206444 single nucleotide variant NM_007294.3(BRCA1):c.441+868C>T 184910839 MedGen:C2676676,OMIM:604370 17 41255271 41255271 G A 206445 single nucleotide variant NM_007294.3(BRCA1):c.441+280G>A 8176137 MedGen:C2676676,OMIM:604370 17 41255859 41255859 C T 206445 single nucleotide variant NM_007294.3(BRCA1):c.441+280G>A 8176137 MedGen:C2676676,OMIM:604370 17 43103842 43103842 C T 206446 single nucleotide variant NM_007294.3(BRCA1):c.302-70G>A 147809611 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43104331 43104331 C T 206446 single nucleotide variant NM_007294.3(BRCA1):c.302-70G>A 147809611 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41256348 41256348 C T 206447 single nucleotide variant NM_007294.3(BRCA1):c.213-266A>G 8176134 MedGen:C2676676,OMIM:604370 17 43105222 43105222 T C 206447 single nucleotide variant NM_007294.3(BRCA1):c.213-266A>G 8176134 MedGen:C2676676,OMIM:604370 17 41257239 41257239 T C 206448 single nucleotide variant NM_007294.3(BRCA1):c.213-485T>G 8176133 MedGen:C2676676,OMIM:604370 17 41257458 41257458 A C 206448 single nucleotide variant NM_007294.3(BRCA1):c.213-485T>G 8176133 MedGen:C2676676,OMIM:604370 17 43105441 43105441 A C 206449 single nucleotide variant NM_007294.3(BRCA1):c.212+657A>G 8176132 MedGen:C2676676,OMIM:604370 17 43105799 43105799 T C 206449 single nucleotide variant NM_007294.3(BRCA1):c.212+657A>G 8176132 MedGen:C2676676,OMIM:604370 17 41257816 41257816 T C 206450 single nucleotide variant NM_007294.3(BRCA1):c.212+430G>A 8176130 MedGen:C2676676,OMIM:604370 17 41258043 41258043 C T 206450 single nucleotide variant NM_007294.3(BRCA1):c.212+430G>A 8176130 MedGen:C2676676,OMIM:604370 17 43106026 43106026 C T 206451 single nucleotide variant NM_007294.3(BRCA1):c.212+325T>C 55974475 MedGen:C2676676,OMIM:604370 17 41258148 41258148 A G 206451 single nucleotide variant NM_007294.3(BRCA1):c.212+325T>C 55974475 MedGen:C2676676,OMIM:604370 17 43106131 43106131 A G 206452 single nucleotide variant NM_007294.3(BRCA1):c.135-396A>G 799913 MedGen:C2676676,OMIM:604370 17 41258946 41258946 T C 206452 single nucleotide variant NM_007294.3(BRCA1):c.135-396A>G 799913 MedGen:C2676676,OMIM:604370 17 43106929 43106929 T C 206453 single nucleotide variant NM_007294.3(BRCA1):c.135-499G>A 8176126 MedGen:C2676676,OMIM:604370 17 43107032 43107032 C T 206453 single nucleotide variant NM_007294.3(BRCA1):c.135-499G>A 8176126 MedGen:C2676676,OMIM:604370 17 41259049 41259049 C T 206454 single nucleotide variant NM_007294.3(BRCA1):c.135-766C>T 12946839 MedGen:C2676676,OMIM:604370 17 43107299 43107299 G A 206454 single nucleotide variant NM_007294.3(BRCA1):c.135-766C>T 12946839 MedGen:C2676676,OMIM:604370 17 41259316 41259316 G A 206455 single nucleotide variant NM_007294.3(BRCA1):c.135-925T>C 148341992 MedGen:C2676676,OMIM:604370 17 43107458 43107458 A G 206455 single nucleotide variant NM_007294.3(BRCA1):c.135-925T>C 148341992 MedGen:C2676676,OMIM:604370 17 41259475 41259475 A G 206456 single nucleotide variant NM_007294.3(BRCA1):c.135-1006G>A 8176124 MedGen:C2676676,OMIM:604370 17 41259556 41259556 C T 206456 single nucleotide variant NM_007294.3(BRCA1):c.135-1006G>A 8176124 MedGen:C2676676,OMIM:604370 17 43107539 43107539 C T 206457 single nucleotide variant NM_007294.3(BRCA1):c.135-1231G>A 799914 MedGen:C2676676,OMIM:604370 17 43107764 43107764 C T 206457 single nucleotide variant NM_007294.3(BRCA1):c.135-1231G>A 799914 MedGen:C2676676,OMIM:604370 17 41259781 41259781 C T 206458 single nucleotide variant NM_007294.3(BRCA1):c.135-2258T>C 4792977 MedGen:C2676676,OMIM:604370 17 43108791 43108791 A G 206458 single nucleotide variant NM_007294.3(BRCA1):c.135-2258T>C 4792977 MedGen:C2676676,OMIM:604370 17 41260808 41260808 A G 206459 single nucleotide variant NM_007294.3(BRCA1):c.135-2435C>G 142808159 MedGen:C2676676,OMIM:604370 17 43108968 43108968 G C 206459 single nucleotide variant NM_007294.3(BRCA1):c.135-2435C>G 142808159 MedGen:C2676676,OMIM:604370 17 41260985 41260985 G C 206460 single nucleotide variant NM_007294.3(BRCA1):c.135-2458G>A 146059433 MedGen:C2676676,OMIM:604370 17 43108991 43108991 C T 206460 single nucleotide variant NM_007294.3(BRCA1):c.135-2458G>A 146059433 MedGen:C2676676,OMIM:604370 17 41261008 41261008 C T 206461 single nucleotide variant NM_007294.3(BRCA1):c.135-2555C>G 8176121 MedGen:C2676676,OMIM:604370 17 41261105 41261105 G C 206461 single nucleotide variant NM_007294.3(BRCA1):c.135-2555C>G 8176121 MedGen:C2676676,OMIM:604370 17 43109088 43109088 G C 206462 single nucleotide variant NM_007294.3(BRCA1):c.135-2683G>A 8176120 MedGen:C2676676,OMIM:604370 17 41261233 41261233 C T 206462 single nucleotide variant NM_007294.3(BRCA1):c.135-2683G>A 8176120 MedGen:C2676676,OMIM:604370 17 43109216 43109216 C T 206463 single nucleotide variant NM_007294.3(BRCA1):c.135-3013T>A 8065872 MedGen:C2676676,OMIM:604370 17 43109546 43109546 A T 206463 single nucleotide variant NM_007294.3(BRCA1):c.135-3013T>A 8065872 MedGen:C2676676,OMIM:604370 17 41261563 41261563 A T 206464 single nucleotide variant NM_007294.3(BRCA1):c.135-3551G>A 142024941 MedGen:C2676676,OMIM:604370 17 41262101 41262101 C T 206464 single nucleotide variant NM_007294.3(BRCA1):c.135-3551G>A 142024941 MedGen:C2676676,OMIM:604370 17 43110084 43110084 C T 206465 single nucleotide variant NM_007294.3(BRCA1):c.135-3552C>T 8176119 MedGen:C2676676,OMIM:604370 17 43110085 43110085 G A 206465 single nucleotide variant NM_007294.3(BRCA1):c.135-3552C>T 8176119 MedGen:C2676676,OMIM:604370 17 41262102 41262102 G A 206466 single nucleotide variant NM_007294.3(BRCA1):c.135-3641C>T 111572667 MedGen:C2676676,OMIM:604370 17 41262191 41262191 G A 206466 single nucleotide variant NM_007294.3(BRCA1):c.135-3641C>T 111572667 MedGen:C2676676,OMIM:604370 17 43110174 43110174 G A 206467 single nucleotide variant NM_007294.3(BRCA1):c.135-3759A>G 113127132 MedGen:C2676676,OMIM:604370 17 41262309 41262309 T C 206467 single nucleotide variant NM_007294.3(BRCA1):c.135-3759A>G 113127132 MedGen:C2676676,OMIM:604370 17 43110292 43110292 T C 206468 single nucleotide variant NM_007294.3(BRCA1):c.135-3807T>C 111615606 MedGen:C2676676,OMIM:604370 17 43110340 43110340 A G 206468 single nucleotide variant NM_007294.3(BRCA1):c.135-3807T>C 111615606 MedGen:C2676676,OMIM:604370 17 41262357 41262357 A G 206469 single nucleotide variant NM_007294.3(BRCA1):c.135-3999C>T 75129942 MedGen:C2676676,OMIM:604370 17 41262549 41262549 G A 206469 single nucleotide variant NM_007294.3(BRCA1):c.135-3999C>T 75129942 MedGen:C2676676,OMIM:604370 17 43110532 43110532 G A 206470 single nucleotide variant NM_007294.3(BRCA1):c.135-4161C>G 73321427 MedGen:C2676676,OMIM:604370 17 41262711 41262711 G C 206470 single nucleotide variant NM_007294.3(BRCA1):c.135-4161C>G 73321427 MedGen:C2676676,OMIM:604370 17 43110694 43110694 G C 206471 single nucleotide variant NM_007294.3(BRCA1):c.135-4494T>C 12936316 MedGen:C2676676,OMIM:604370 17 41263044 41263044 A G 206471 single nucleotide variant NM_007294.3(BRCA1):c.135-4494T>C 12936316 MedGen:C2676676,OMIM:604370 17 43111027 43111027 A G 206472 single nucleotide variant NM_007294.3(BRCA1):c.135-4533T>C 147766773 MedGen:C2676676,OMIM:604370 17 41263083 41263083 A G 206472 single nucleotide variant NM_007294.3(BRCA1):c.135-4533T>C 147766773 MedGen:C2676676,OMIM:604370 17 43111066 43111066 A G 206473 single nucleotide variant NM_007294.3(BRCA1):c.134+4313C>T 8176118 MedGen:C2676676,OMIM:604370 17 41263430 41263430 G A 206473 single nucleotide variant NM_007294.3(BRCA1):c.134+4313C>T 8176118 MedGen:C2676676,OMIM:604370 17 43111413 43111413 G A 206474 single nucleotide variant NM_007294.3(BRCA1):c.134+4294A>T 188719262 MedGen:C2676676,OMIM:604370 17 41263449 41263449 T A 206474 single nucleotide variant NM_007294.3(BRCA1):c.134+4294A>T 188719262 MedGen:C2676676,OMIM:604370 17 43111432 43111432 T A 206475 single nucleotide variant NM_007294.3(BRCA1):c.134+4177A>G 8176117 MedGen:C2676676,OMIM:604370 17 41263566 41263566 T C 206475 single nucleotide variant NM_007294.3(BRCA1):c.134+4177A>G 8176117 MedGen:C2676676,OMIM:604370 17 43111549 43111549 T C 206476 single nucleotide variant NM_007294.3(BRCA1):c.134+4133C>T 143757906 MedGen:C2676676,OMIM:604370 17 41263610 41263610 G A 206476 single nucleotide variant NM_007294.3(BRCA1):c.134+4133C>T 143757906 MedGen:C2676676,OMIM:604370 17 43111593 43111593 G A 206477 single nucleotide variant NM_007294.3(BRCA1):c.134+3898T>G 8176116 MedGen:C2676676,OMIM:604370 17 43111828 43111828 A C 206477 single nucleotide variant NM_007294.3(BRCA1):c.134+3898T>G 8176116 MedGen:C2676676,OMIM:604370 17 41263845 41263845 A C 206478 single nucleotide variant NM_007294.3(BRCA1):c.134+3597C>T 11657823 MedGen:C2676676,OMIM:604370 17 41264146 41264146 G A 206478 single nucleotide variant NM_007294.3(BRCA1):c.134+3597C>T 11657823 MedGen:C2676676,OMIM:604370 17 43112129 43112129 G A 206479 single nucleotide variant NM_007294.3(BRCA1):c.134+3404C>T 187294938 MedGen:C2676676,OMIM:604370 17 41264339 41264339 G A 206479 single nucleotide variant NM_007294.3(BRCA1):c.134+3404C>T 187294938 MedGen:C2676676,OMIM:604370 17 43112322 43112322 G A 206480 single nucleotide variant NM_007294.3(BRCA1):c.134+3379T>C 8176114 MedGen:C2676676,OMIM:604370 17 41264364 41264364 A G 206480 single nucleotide variant NM_007294.3(BRCA1):c.134+3379T>C 8176114 MedGen:C2676676,OMIM:604370 17 43112347 43112347 A G 206481 single nucleotide variant NM_007294.3(BRCA1):c.134+2672A>G 113210086 MedGen:C2676676,OMIM:604370 17 41265071 41265071 T C 206481 single nucleotide variant NM_007294.3(BRCA1):c.134+2672A>G 113210086 MedGen:C2676676,OMIM:604370 17 43113054 43113054 T C 206482 single nucleotide variant NM_007294.3(BRCA1):c.134+2570A>C 138040784 MedGen:C2676676,OMIM:604370 17 41265173 41265173 T G 206482 single nucleotide variant NM_007294.3(BRCA1):c.134+2570A>C 138040784 MedGen:C2676676,OMIM:604370 17 43113156 43113156 T G 206483 single nucleotide variant NM_007294.3(BRCA1):c.134+1967T>C 8176109 MedGen:C2676676,OMIM:604370 17 43113759 43113759 A G 206483 single nucleotide variant NM_007294.3(BRCA1):c.134+1967T>C 8176109 MedGen:C2676676,OMIM:604370 17 41265776 41265776 A G 206484 single nucleotide variant NM_007294.3(BRCA1):c.134+1936C>G 8176108 MedGen:C2676676,OMIM:604370 17 43113790 43113790 G C 206484 single nucleotide variant NM_007294.3(BRCA1):c.134+1936C>G 8176108 MedGen:C2676676,OMIM:604370 17 41265807 41265807 G C 206485 single nucleotide variant NM_007294.3(BRCA1):c.134+1788C>T 2671874 MedGen:C2676676,OMIM:604370 17 43113938 43113938 G A 206485 single nucleotide variant NM_007294.3(BRCA1):c.134+1788C>T 2671874 MedGen:C2676676,OMIM:604370 17 41265955 41265955 G A 206486 duplication NM_007294.3(BRCA1):c.134+1704dupG 113808892 MedGen:C2676676,OMIM:604370 17 43114022 43114022 C CC 206486 duplication NM_007294.3(BRCA1):c.134+1704dupG 113808892 MedGen:C2676676,OMIM:604370 17 41266039 41266039 C CC 206487 single nucleotide variant NM_007294.3(BRCA1):c.134+1632C>A 8176106 MedGen:C2676676,OMIM:604370 17 43114094 43114094 G T 206487 single nucleotide variant NM_007294.3(BRCA1):c.134+1632C>A 8176106 MedGen:C2676676,OMIM:604370 17 41266111 41266111 G T 206488 single nucleotide variant NM_007294.3(BRCA1):c.134+1391C>T 79415432 MedGen:C2676676,OMIM:604370 17 43114335 43114335 G A 206488 single nucleotide variant NM_007294.3(BRCA1):c.134+1391C>T 79415432 MedGen:C2676676,OMIM:604370 17 41266352 41266352 G A 206489 single nucleotide variant NM_007294.3(BRCA1):c.134+746G>A 8176104 MedGen:C2676676,OMIM:604370 17 43114980 43114980 C T 206489 single nucleotide variant NM_007294.3(BRCA1):c.134+746G>A 8176104 MedGen:C2676676,OMIM:604370 17 41266997 41266997 C T 206490 single nucleotide variant NM_007294.3(BRCA1):c.134+693C>T 8176103 MedGen:C2676676,OMIM:604370 17 43115033 43115033 G A 206490 single nucleotide variant NM_007294.3(BRCA1):c.134+693C>T 8176103 MedGen:C2676676,OMIM:604370 17 41267050 41267050 G A 206491 single nucleotide variant NM_007294.3(BRCA1):c.134+563G>A 8176102 MedGen:C2676676,OMIM:604370 17 43115163 43115163 C T 206491 single nucleotide variant NM_007294.3(BRCA1):c.134+563G>A 8176102 MedGen:C2676676,OMIM:604370 17 41267180 41267180 C T 206492 single nucleotide variant NM_007294.3(BRCA1):c.134+296C>T 139405471 MedGen:C2676676,OMIM:604370 17 41267447 41267447 G A 206492 single nucleotide variant NM_007294.3(BRCA1):c.134+296C>T 139405471 MedGen:C2676676,OMIM:604370 17 43115430 43115430 G A 206493 single nucleotide variant NM_007294.3(BRCA1):c.134+202A>T 8176101 MedGen:C2676676,OMIM:604370 17 43115524 43115524 T A 206493 single nucleotide variant NM_007294.3(BRCA1):c.134+202A>T 8176101 MedGen:C2676676,OMIM:604370 17 41267541 41267541 T A 206494 single nucleotide variant NM_007294.3(BRCA1):c.134+111C>T 8176100 MedGen:C2676676,OMIM:604370 17 43115615 43115615 G A 206494 single nucleotide variant NM_007294.3(BRCA1):c.134+111C>T 8176100 MedGen:C2676676,OMIM:604370 17 41267632 41267632 G A 206495 single nucleotide variant NM_007294.3(BRCA1):c.81-189A>T 113046417 MedGen:C2676676,OMIM:604370 17 41267985 41267985 T A 206495 single nucleotide variant NM_007294.3(BRCA1):c.81-189A>T 113046417 MedGen:C2676676,OMIM:604370 17 43115968 43115968 T A 206496 single nucleotide variant NM_007294.3(BRCA1):c.81-410T>G 8176098 MedGen:C2676676,OMIM:604370 17 43116189 43116189 A C 206496 single nucleotide variant NM_007294.3(BRCA1):c.81-410T>G 8176098 MedGen:C2676676,OMIM:604370 17 41268206 41268206 A C 206497 single nucleotide variant NM_007294.3(BRCA1):c.81-672C>G 114323360 MedGen:C2676676,OMIM:604370 17 43116451 43116451 G C 206497 single nucleotide variant NM_007294.3(BRCA1):c.81-672C>G 114323360 MedGen:C2676676,OMIM:604370 17 41268468 41268468 G C 206498 single nucleotide variant NM_007294.3(BRCA1):c.81-802G>A 8074462 MedGen:C2676676,OMIM:604370 17 41268598 41268598 C T 206498 single nucleotide variant NM_007294.3(BRCA1):c.81-802G>A 8074462 MedGen:C2676676,OMIM:604370 17 43116581 43116581 C T 206499 single nucleotide variant NM_007294.3(BRCA1):c.81-950C>T 8176095 MedGen:C2676676,OMIM:604370 17 43116729 43116729 G A 206499 single nucleotide variant NM_007294.3(BRCA1):c.81-950C>T 8176095 MedGen:C2676676,OMIM:604370 17 41268746 41268746 G A 206500 single nucleotide variant NM_007294.3(BRCA1):c.81-1202T>A 148120486 MedGen:C2676676,OMIM:604370 17 43116981 43116981 A T 206500 single nucleotide variant NM_007294.3(BRCA1):c.81-1202T>A 148120486 MedGen:C2676676,OMIM:604370 17 41268998 41268998 A T 206501 single nucleotide variant NM_007294.3(BRCA1):c.81-1384G>A 117381683 MedGen:C2676676,OMIM:604370 17 41269180 41269180 C T 206501 single nucleotide variant NM_007294.3(BRCA1):c.81-1384G>A 117381683 MedGen:C2676676,OMIM:604370 17 43117163 43117163 C T 206502 single nucleotide variant NM_007294.3(BRCA1):c.81-1519G>A 138795459 MedGen:C2676676,OMIM:604370 17 41269315 41269315 C T 206502 single nucleotide variant NM_007294.3(BRCA1):c.81-1519G>A 138795459 MedGen:C2676676,OMIM:604370 17 43117298 43117298 C T 206503 single nucleotide variant NM_007294.3(BRCA1):c.81-2286A>G 147420429 MedGen:C2676676,OMIM:604370 17 41270082 41270082 T C 206503 single nucleotide variant NM_007294.3(BRCA1):c.81-2286A>G 147420429 MedGen:C2676676,OMIM:604370 17 43118065 43118065 T C 206504 single nucleotide variant NM_007294.3(BRCA1):c.81-2433A>C 8176092 MedGen:C2676676,OMIM:604370 17 43118212 43118212 T G 206504 single nucleotide variant NM_007294.3(BRCA1):c.81-2433A>C 8176092 MedGen:C2676676,OMIM:604370 17 41270229 41270229 T G 206505 single nucleotide variant NM_007294.3(BRCA1):c.81-2439C>T 149469770 MedGen:C2676676,OMIM:604370 17 43118218 43118218 G A 206505 single nucleotide variant NM_007294.3(BRCA1):c.81-2439C>T 149469770 MedGen:C2676676,OMIM:604370 17 41270235 41270235 G A 206506 single nucleotide variant NM_007294.3(BRCA1):c.81-2481G>A 8176091 MedGen:C2676676,OMIM:604370 17 43118260 43118260 C T 206506 single nucleotide variant NM_007294.3(BRCA1):c.81-2481G>A 8176091 MedGen:C2676676,OMIM:604370 17 41270277 41270277 C T 206507 single nucleotide variant NM_007294.3(BRCA1):c.81-2559A>G 9895855 MedGen:C2676676,OMIM:604370 17 43118338 43118338 T C 206507 single nucleotide variant NM_007294.3(BRCA1):c.81-2559A>G 9895855 MedGen:C2676676,OMIM:604370 17 41270355 41270355 T C 206508 single nucleotide variant NM_007294.3(BRCA1):c.81-2622C>G 8176090 MedGen:C2676676,OMIM:604370 17 43118401 43118401 G C 206508 single nucleotide variant NM_007294.3(BRCA1):c.81-2622C>G 8176090 MedGen:C2676676,OMIM:604370 17 41270418 41270418 G C 206509 single nucleotide variant NM_007294.3(BRCA1):c.81-2646C>T 8176089 MedGen:C2676676,OMIM:604370 17 43118425 43118425 G A 206509 single nucleotide variant NM_007294.3(BRCA1):c.81-2646C>T 8176089 MedGen:C2676676,OMIM:604370 17 41270442 41270442 G A 206510 single nucleotide variant NM_007294.3(BRCA1):c.81-2667C>T 8176088 MedGen:C2676676,OMIM:604370 17 43118446 43118446 G A 206510 single nucleotide variant NM_007294.3(BRCA1):c.81-2667C>T 8176088 MedGen:C2676676,OMIM:604370 17 41270463 41270463 G A 206511 single nucleotide variant NM_007294.3(BRCA1):c.81-2870G>T 8176087 MedGen:C2676676,OMIM:604370 17 43118649 43118649 C A 206511 single nucleotide variant NM_007294.3(BRCA1):c.81-2870G>T 8176087 MedGen:C2676676,OMIM:604370 17 41270666 41270666 C A 206512 single nucleotide variant NM_007294.3(BRCA1):c.81-3255C>T 73321445 MedGen:C2676676,OMIM:604370 17 43119034 43119034 G A 206512 single nucleotide variant NM_007294.3(BRCA1):c.81-3255C>T 73321445 MedGen:C2676676,OMIM:604370 17 41271051 41271051 G A 206513 single nucleotide variant NM_007294.3(BRCA1):c.81-3426G>A 143912779 MedGen:C2676676,OMIM:604370 17 43119205 43119205 C T 206513 single nucleotide variant NM_007294.3(BRCA1):c.81-3426G>A 143912779 MedGen:C2676676,OMIM:604370 17 41271222 41271222 C T 206514 single nucleotide variant NM_007294.3(BRCA1):c.80+3724C>G 116806238 MedGen:C2676676,OMIM:604370 17 43120293 43120293 G C 206514 single nucleotide variant NM_007294.3(BRCA1):c.80+3724C>G 116806238 MedGen:C2676676,OMIM:604370 17 41272310 41272310 G C 206515 single nucleotide variant NM_007294.3(BRCA1):c.80+3207A>G 192816557 MedGen:C2676676,OMIM:604370 17 43120810 43120810 T C 206515 single nucleotide variant NM_007294.3(BRCA1):c.80+3207A>G 192816557 MedGen:C2676676,OMIM:604370 17 41272827 41272827 T C 206516 single nucleotide variant NM_007294.3(BRCA1):c.80+3038C>T 146467457 MedGen:C2676676,OMIM:604370 17 43120979 43120979 G A 206516 single nucleotide variant NM_007294.3(BRCA1):c.80+3038C>T 146467457 MedGen:C2676676,OMIM:604370 17 41272996 41272996 G A 206517 single nucleotide variant NM_007294.3(BRCA1):c.80+3011C>T 112674337 MedGen:C2676676,OMIM:604370 17 41273023 41273023 G A 206517 single nucleotide variant NM_007294.3(BRCA1):c.80+3011C>T 112674337 MedGen:C2676676,OMIM:604370 17 43121006 43121006 G A 206518 single nucleotide variant NM_007294.3(BRCA1):c.80+2939C>T 35668327 MedGen:C2676676,OMIM:604370 17 43121078 43121078 G A 206518 single nucleotide variant NM_007294.3(BRCA1):c.80+2939C>T 35668327 MedGen:C2676676,OMIM:604370 17 41273095 41273095 G A 206519 single nucleotide variant NM_007294.3(BRCA1):c.80+2786G>A 142831199 MedGen:C2676676,OMIM:604370 17 43121231 43121231 C T 206519 single nucleotide variant NM_007294.3(BRCA1):c.80+2786G>A 142831199 MedGen:C2676676,OMIM:604370 17 41273248 41273248 C T 206520 single nucleotide variant NM_007294.3(BRCA1):c.80+2686A>G 799902 MedGen:C2676676,OMIM:604370 17 43121331 43121331 T C 206520 single nucleotide variant NM_007294.3(BRCA1):c.80+2686A>G 799902 MedGen:C2676676,OMIM:604370 17 41273348 41273348 T C 206521 single nucleotide variant NM_007294.3(BRCA1):c.80+2655C>G 34942571 MedGen:C2676676,OMIM:604370 17 41273379 41273379 G C 206521 single nucleotide variant NM_007294.3(BRCA1):c.80+2655C>G 34942571 MedGen:C2676676,OMIM:604370 17 43121362 43121362 G C 206522 single nucleotide variant NM_007294.3(BRCA1):c.80+2612G>A 148068102 MedGen:C2676676,OMIM:604370 17 41273422 41273422 C T 206522 single nucleotide variant NM_007294.3(BRCA1):c.80+2612G>A 148068102 MedGen:C2676676,OMIM:604370 17 43121405 43121405 C T 206523 single nucleotide variant NM_007294.3(BRCA1):c.80+2497T>G 36086436 MedGen:C2676676,OMIM:604370 17 41273537 41273537 A C 206523 single nucleotide variant NM_007294.3(BRCA1):c.80+2497T>G 36086436 MedGen:C2676676,OMIM:604370 17 43121520 43121520 A C 206524 single nucleotide variant NM_007294.3(BRCA1):c.80+1256C>T 8176086 MedGen:C2676676,OMIM:604370 17 43122761 43122761 G A 206524 single nucleotide variant NM_007294.3(BRCA1):c.80+1256C>T 8176086 MedGen:C2676676,OMIM:604370 17 41274778 41274778 G A 206525 single nucleotide variant NM_007294.3(BRCA1):c.80+1245G>A 8176085 MedGen:C2676676,OMIM:604370 17 43122772 43122772 C T 206525 single nucleotide variant NM_007294.3(BRCA1):c.80+1245G>A 8176085 MedGen:C2676676,OMIM:604370 17 41274789 41274789 C T 206526 single nucleotide variant NM_007294.3(BRCA1):c.80+1128C>T 799903 MedGen:C2676676,OMIM:604370 17 41274906 41274906 G A 206526 single nucleotide variant NM_007294.3(BRCA1):c.80+1128C>T 799903 MedGen:C2676676,OMIM:604370 17 43122889 43122889 G A 206527 deletion NM_007294.3(BRCA1):c.80+1128del 199839105 MedGen:C2676676,OMIM:604370 17 41274906 41274906 G - 206527 deletion NM_007294.3(BRCA1):c.80+1128del 199839105 MedGen:C2676676,OMIM:604370 17 43122889 43122889 G - 206528 duplication NM_007294.3(BRCA1):c.80+952dupT 149141411 MedGen:C2676676,OMIM:604370 17 43123065 43123065 A AA 206528 duplication NM_007294.3(BRCA1):c.80+952dupT 149141411 MedGen:C2676676,OMIM:604370 17 41275082 41275082 A AA 206529 single nucleotide variant NM_007294.3(BRCA1):c.80+883C>G 8176083 MedGen:C2676676,OMIM:604370 17 43123134 43123134 G C 206529 single nucleotide variant NM_007294.3(BRCA1):c.80+883C>G 8176083 MedGen:C2676676,OMIM:604370 17 41275151 41275151 G C 206530 single nucleotide variant NM_007294.3(BRCA1):c.80+389T>C 8176082 MedGen:C2676676,OMIM:604370 17 43123628 43123628 A G 206530 single nucleotide variant NM_007294.3(BRCA1):c.80+389T>C 8176082 MedGen:C2676676,OMIM:604370 17 41275645 41275645 A G 206531 single nucleotide variant NM_007294.3(BRCA1):c.80+379C>T 113117695 MedGen:C2676676,OMIM:604370 17 43123638 43123638 G A 206531 single nucleotide variant NM_007294.3(BRCA1):c.80+379C>T 113117695 MedGen:C2676676,OMIM:604370 17 41275655 41275655 G A 206532 single nucleotide variant NM_007294.3(BRCA1):c.80+202C>T 8176079 MedGen:C2676676,OMIM:604370 17 41275832 41275832 G A 206532 single nucleotide variant NM_007294.3(BRCA1):c.80+202C>T 8176079 MedGen:C2676676,OMIM:604370 17 43123815 43123815 G A 206533 single nucleotide variant NM_007294.3(BRCA1):c.-19-216A>G 8176077 MedGen:C2676676,OMIM:604370 17 43124331 43124331 T C 206533 single nucleotide variant NM_007294.3(BRCA1):c.-19-216A>G 8176077 MedGen:C2676676,OMIM:604370 17 41276348 41276348 T C 206534 single nucleotide variant NM_007294.3(BRCA1):c.-19-361C>T 141625477 MedGen:C2676676,OMIM:604370 17 43124476 43124476 G A 206534 single nucleotide variant NM_007294.3(BRCA1):c.-19-361C>T 141625477 MedGen:C2676676,OMIM:604370 17 41276493 41276493 G A 206535 single nucleotide variant NM_007294.3(BRCA1):c.-20+530G>A 111462026 MedGen:C2676676,OMIM:604370 17 43124741 43124741 C T 206535 single nucleotide variant NM_007294.3(BRCA1):c.-20+530G>A 111462026 MedGen:C2676676,OMIM:604370 17 41276758 41276758 C T 206536 single nucleotide variant NM_007294.3(BRCA1):c.-20+336C>T 8176076 MedGen:C2676676,OMIM:604370 17 41276952 41276952 G A 206536 single nucleotide variant NM_007294.3(BRCA1):c.-20+336C>T 8176076 MedGen:C2676676,OMIM:604370 17 43124935 43124935 G A 206537 single nucleotide variant NM_007294.3(BRCA1):c.-20+185T>G 55680227 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41277103 41277103 A C 206537 single nucleotide variant NM_007294.3(BRCA1):c.-20+185T>G 55680227 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43125086 43125086 A C 206538 single nucleotide variant NM_007294.3(BRCA1):c.-192T>C 113323025 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41277460 41277460 A G 206538 single nucleotide variant NM_007294.3(BRCA1):c.-192T>C 113323025 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43125443 43125443 A G 206539 single nucleotide variant NM_007294.3(BRCA1):c.-273G>A 112960339 MedGen:C2676676,OMIM:604370 17 43125524 43125524 C T 206539 single nucleotide variant NM_007294.3(BRCA1):c.-273G>A 112960339 MedGen:C2676676,OMIM:604370 17 41277541 41277541 C T 206540 single nucleotide variant NM_007294.3(BRCA1):c.-728A>G 3092986 MedGen:C2676676,OMIM:604370 17 41277996 41277996 T C 206540 single nucleotide variant NM_007294.3(BRCA1):c.-728A>G 3092986 MedGen:C2676676,OMIM:604370 17 43125979 43125979 T C 206541 single nucleotide variant NM_007294.3(BRCA1):c.-848A>G 799906 MedGen:C2676676,OMIM:604370 17 41278116 41278116 T C 206541 single nucleotide variant NM_007294.3(BRCA1):c.-848A>G 799906 MedGen:C2676676,OMIM:604370 17 43126099 43126099 T C 206542 single nucleotide variant NM_007294.3(BRCA1):c.-1109C>T 11655505 MedGen:C2676676,OMIM:604370 17 41278377 41278377 G A 206542 single nucleotide variant NM_007294.3(BRCA1):c.-1109C>T 11655505 MedGen:C2676676,OMIM:604370 17 43126360 43126360 G A 206543 single nucleotide variant NM_007294.3(BRCA1):c.-1457G>C 799907 MedGen:C2676676,OMIM:604370 17 41278725 41278725 C G 206543 single nucleotide variant NM_007294.3(BRCA1):c.-1457G>C 799907 MedGen:C2676676,OMIM:604370 17 43126708 43126708 C G 206544 single nucleotide variant NM_007294.3(BRCA1):c.-1465G>A 36221744 MedGen:C2676676,OMIM:604370 17 43126716 43126716 C T 206544 single nucleotide variant NM_007294.3(BRCA1):c.-1465G>A 36221744 MedGen:C2676676,OMIM:604370 17 41278733 41278733 C T 206545 single nucleotide variant NM_007294.3(BRCA1):c.-1619G>A 144412026 MedGen:C2676676,OMIM:604370 17 41278887 41278887 C T 206545 single nucleotide variant NM_007294.3(BRCA1):c.-1619G>A 144412026 MedGen:C2676676,OMIM:604370 17 43126870 43126870 C T 206546 single nucleotide variant NM_007294.3(BRCA1):c.-1648T>C 799908 MedGen:C2676676,OMIM:604370 17 41278916 41278916 A G 206546 single nucleotide variant NM_007294.3(BRCA1):c.-1648T>C 799908 MedGen:C2676676,OMIM:604370 17 43126899 43126899 A G 206547 single nucleotide variant NM_007294.3(BRCA1):c.-1959C>T 799909 MedGen:C2676676,OMIM:604370 17 41279227 41279227 G A 206547 single nucleotide variant NM_007294.3(BRCA1):c.-1959C>T 799909 MedGen:C2676676,OMIM:604370 17 43127210 43127210 G A 206548 single nucleotide variant NM_007294.3(BRCA1):c.-2030T>C 4793204 MedGen:C2676676,OMIM:604370 17 41279298 41279298 A G 206548 single nucleotide variant NM_007294.3(BRCA1):c.-2030T>C 4793204 MedGen:C2676676,OMIM:604370 17 43127281 43127281 A G 206549 single nucleotide variant NM_007294.3(BRCA1):c.-2261T>C 183796323 MedGen:C2676676,OMIM:604370 17 43127512 43127512 A G 206549 single nucleotide variant NM_007294.3(BRCA1):c.-2261T>C 183796323 MedGen:C2676676,OMIM:604370 17 41279529 41279529 A G 206550 single nucleotide variant NM_007294.3(BRCA1):c.-2266G>A 8077035 MedGen:C2676676,OMIM:604370 17 41279534 41279534 C T 206550 single nucleotide variant NM_007294.3(BRCA1):c.-2266G>A 8077035 MedGen:C2676676,OMIM:604370 17 43127517 43127517 C T 206551 single nucleotide variant NM_007294.3(BRCA1):c.-2293C>G 799910 MedGen:C2676676,OMIM:604370 17 41279561 41279561 G C 206551 single nucleotide variant NM_007294.3(BRCA1):c.-2293C>G 799910 MedGen:C2676676,OMIM:604370 17 43127544 43127544 G C 206552 single nucleotide variant NM_007294.3(BRCA1):c.-2502T>C 34410138 MedGen:C2676676,OMIM:604370 17 41279770 41279770 A G 206552 single nucleotide variant NM_007294.3(BRCA1):c.-2502T>C 34410138 MedGen:C2676676,OMIM:604370 17 43127753 43127753 A G 206553 single nucleotide variant NM_007294.3(BRCA1):c.-2569G>T 35981166 MedGen:C2676676,OMIM:604370 17 41279837 41279837 C A 206553 single nucleotide variant NM_007294.3(BRCA1):c.-2569G>T 35981166 MedGen:C2676676,OMIM:604370 17 43127820 43127820 C A 206554 single nucleotide variant NM_007294.3(BRCA1):c.-2614T>C 12947782 MedGen:C2676676,OMIM:604370 17 43127865 43127865 A G 206554 single nucleotide variant NM_007294.3(BRCA1):c.-2614T>C 12947782 MedGen:C2676676,OMIM:604370 17 41279882 41279882 A G 206555 deletion NM_007294.3(BRCA1):c.-2617_-2616del 112881775 MedGen:C2676676,OMIM:604370 17 41279884 41279885 AC - 206555 deletion NM_007294.3(BRCA1):c.-2617_-2616del 112881775 MedGen:C2676676,OMIM:604370 17 43127867 43127868 AC - 213233 deletion NM_007294.3(BRCA1):c.5278-?_*(1_?)del -1 MedGen:C0677776,Orphanet:ORPHA145 17 43045677 43051117 na na 213233 deletion NM_007294.3(BRCA1):c.5278-?_*(1_?)del -1 MedGen:C0677776,Orphanet:ORPHA145 17 41197694 41203134 na na 213234 deletion NM_007294.3(BRCA1):c.4987-?_5193+?del -1 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 na -1 -1 na na 213235 deletion NM_007294.3(BRCA1):c.4186-?_5193+?del -1 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 na -1 -1 na na 213236 deletion NM_007294.3(BRCA1):c.135-?_5193+?del -1 MedGen:C0677776,Orphanet:ORPHA145 na -1 -1 na na 213237 deletion NM_007294.3(BRCA1):c.4676-?_5074+?del -1 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 na -1 -1 na na 213238 deletion NM_007294.3(BRCA1):c.(?_-1)_5074+?del -1 MedGen:C0677776,Orphanet:ORPHA145 17 41219625 41276114 na na 213238 deletion NM_007294.3(BRCA1):c.(?_-1)_5074+?del -1 MedGen:C0677776,Orphanet:ORPHA145 17 43067608 43124097 na na 213239 deletion NM_007294.3(BRCA1):c.4358-?_4484+?del -1 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 na -1 -1 na na 213303 single nucleotide variant NM_007294.3(BRCA1):c.5309G>C (p.Gly1770Ala) 863224765 MedGen:C0677776,Orphanet:ORPHA145 17 41203103 41203103 C G 213303 single nucleotide variant NM_007294.3(BRCA1):c.5309G>C (p.Gly1770Ala) 863224765 MedGen:C0677776,Orphanet:ORPHA145 17 43051086 43051086 C G 213304 single nucleotide variant NM_007294.3(BRCA1):c.5269G>C (p.Asp1757His) 863224764 MedGen:C0677776,Orphanet:ORPHA145 17 41209077 41209077 C G 213304 single nucleotide variant NM_007294.3(BRCA1):c.5269G>C (p.Asp1757His) 863224764 MedGen:C0677776,Orphanet:ORPHA145 17 43057060 43057060 C G 213305 single nucleotide variant NM_007294.3(BRCA1):c.5107T>C (p.Tyr1703His) 863224763 MedGen:C0677776,Orphanet:ORPHA145 17 43063919 43063919 A G 213305 single nucleotide variant NM_007294.3(BRCA1):c.5107T>C (p.Tyr1703His) 863224763 MedGen:C0677776,Orphanet:ORPHA145 17 41215936 41215936 A G 213306 single nucleotide variant NM_007294.3(BRCA1):c.5036T>C (p.Leu1679Pro) 760038328 MedGen:C0677776,Orphanet:ORPHA145 17 43067646 43067646 A G 213306 single nucleotide variant NM_007294.3(BRCA1):c.5036T>C (p.Leu1679Pro) 760038328 MedGen:C0677776,Orphanet:ORPHA145 17 41219663 41219663 A G 213307 single nucleotide variant NM_007294.3(BRCA1):c.4902G>A (p.Arg1634=) 746199881 MedGen:C0677776,Orphanet:ORPHA145 17 43071012 43071012 C T 213307 single nucleotide variant NM_007294.3(BRCA1):c.4902G>A (p.Arg1634=) 746199881 MedGen:C0677776,Orphanet:ORPHA145 17 41223029 41223029 C T 213308 single nucleotide variant NM_007294.3(BRCA1):c.4841C>T (p.Pro1614Leu) 766305255 MedGen:C0677776,Orphanet:ORPHA145 17 43071073 43071073 G A 213308 single nucleotide variant NM_007294.3(BRCA1):c.4841C>T (p.Pro1614Leu) 766305255 MedGen:C0677776,Orphanet:ORPHA145 17 41223090 41223090 G A 213309 single nucleotide variant NM_007294.3(BRCA1):c.4693G>A (p.Glu1565Lys) 863224762 MedGen:C0677776,Orphanet:ORPHA145 17 41223238 41223238 C T 213309 single nucleotide variant NM_007294.3(BRCA1):c.4693G>A (p.Glu1565Lys) 863224762 MedGen:C0677776,Orphanet:ORPHA145 17 43071221 43071221 C T 213310 single nucleotide variant NM_007294.3(BRCA1):c.4541C>T (p.Ser1514Phe) 863224761 MedGen:C0677776,Orphanet:ORPHA145 17 41226482 41226482 G A 213310 single nucleotide variant NM_007294.3(BRCA1):c.4541C>T (p.Ser1514Phe) 863224761 MedGen:C0677776,Orphanet:ORPHA145 17 43074465 43074465 G A 213311 single nucleotide variant NM_007294.3(BRCA1):c.4485-10A>G 863224420 MedGen:C0677776,Orphanet:ORPHA145 17 41226548 41226548 T C 213311 single nucleotide variant NM_007294.3(BRCA1):c.4485-10A>G 863224420 MedGen:C0677776,Orphanet:ORPHA145 17 43074531 43074531 T C 213312 single nucleotide variant NM_007294.3(BRCA1):c.4474G>T (p.Gly1492Ter) 863224511 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43076498 43076498 C A 213312 single nucleotide variant NM_007294.3(BRCA1):c.4474G>T (p.Gly1492Ter) 863224511 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41228515 41228515 C A 213313 single nucleotide variant NM_007294.3(BRCA1):c.4315C>T (p.Leu1439Phe) 781260818 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41234463 41234463 G A 213313 single nucleotide variant NM_007294.3(BRCA1):c.4315C>T (p.Leu1439Phe) 781260818 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43082446 43082446 G A 213314 single nucleotide variant NM_007294.3(BRCA1):c.4193A>G (p.Asp1398Gly) 761640584 MedGen:C0677776,Orphanet:ORPHA145 17 43082568 43082568 T C 213314 single nucleotide variant NM_007294.3(BRCA1):c.4193A>G (p.Asp1398Gly) 761640584 MedGen:C0677776,Orphanet:ORPHA145 17 41234585 41234585 T C 213315 single nucleotide variant NM_007294.3(BRCA1):c.3707A>G (p.Asn1236Ser) 863224760 MedGen:C0677776,Orphanet:ORPHA145 17 43091824 43091824 T C 213315 single nucleotide variant NM_007294.3(BRCA1):c.3707A>G (p.Asn1236Ser) 863224760 MedGen:C0677776,Orphanet:ORPHA145 17 41243841 41243841 T C 213316 single nucleotide variant NM_007294.3(BRCA1):c.3700G>C (p.Val1234Leu) 763354142 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41243848 41243848 C G 213316 single nucleotide variant NM_007294.3(BRCA1):c.3700G>C (p.Val1234Leu) 763354142 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43091831 43091831 C G 213317 single nucleotide variant NM_007294.3(BRCA1):c.3496G>C (p.Ala1166Pro) 745418679 MedGen:C0677776,Orphanet:ORPHA145 17 41244052 41244052 C G 213317 single nucleotide variant NM_007294.3(BRCA1):c.3496G>C (p.Ala1166Pro) 745418679 MedGen:C0677776,Orphanet:ORPHA145 17 43092035 43092035 C G 213318 single nucleotide variant NM_007294.3(BRCA1):c.3423T>C (p.His1141=) 863224419 MedGen:C0677776,Orphanet:ORPHA145 17 43092108 43092108 A G 213318 single nucleotide variant NM_007294.3(BRCA1):c.3423T>C (p.His1141=) 863224419 MedGen:C0677776,Orphanet:ORPHA145 17 41244125 41244125 A G 213319 single nucleotide variant NM_007294.3(BRCA1):c.3356C>G (p.Thr1119Ser) 863224759 MedGen:C0677776,Orphanet:ORPHA145 17 41244192 41244192 G C 213319 single nucleotide variant NM_007294.3(BRCA1):c.3356C>G (p.Thr1119Ser) 863224759 MedGen:C0677776,Orphanet:ORPHA145 17 43092175 43092175 G C 213320 single nucleotide variant NM_007294.3(BRCA1):c.3092T>G (p.Ile1031Ser) 863224758 MedGen:C0677776,Orphanet:ORPHA145 17 41244456 41244456 A C 213320 single nucleotide variant NM_007294.3(BRCA1):c.3092T>G (p.Ile1031Ser) 863224758 MedGen:C0677776,Orphanet:ORPHA145 17 43092439 43092439 A C 213321 single nucleotide variant NM_007294.3(BRCA1):c.2933A>G (p.Tyr978Cys) 863224756 MedGen:C0677776,Orphanet:ORPHA145 17 41244615 41244615 T C 213321 single nucleotide variant NM_007294.3(BRCA1):c.2933A>G (p.Tyr978Cys) 863224756 MedGen:C0677776,Orphanet:ORPHA145 17 43092598 43092598 T C 213322 single nucleotide variant NM_007294.3(BRCA1):c.2750T>G (p.Ile917Ser) 587781492 MedGen:C0677776,Orphanet:ORPHA145 17 41244798 41244798 A C 213322 single nucleotide variant NM_007294.3(BRCA1):c.2750T>G (p.Ile917Ser) 587781492 MedGen:C0677776,Orphanet:ORPHA145 17 43092781 43092781 A C 213323 single nucleotide variant NM_007294.3(BRCA1):c.2554C>G (p.Leu852Val) 863224754 MedGen:C0677776,Orphanet:ORPHA145 17 41244994 41244994 G C 213323 single nucleotide variant NM_007294.3(BRCA1):c.2554C>G (p.Leu852Val) 863224754 MedGen:C0677776,Orphanet:ORPHA145 17 43092977 43092977 G C 213324 deletion NM_007294.3(BRCA1):c.2155_2163delAAAGAATTT (p.Lys719_Phe721del) 863224841 MedGen:C0677776,Orphanet:ORPHA145 17 41245385 41245393 AAATTCTTT - 213324 deletion NM_007294.3(BRCA1):c.2155_2163delAAAGAATTT (p.Lys719_Phe721del) 863224841 MedGen:C0677776,Orphanet:ORPHA145 17 43093368 43093376 AAATTCTTT - 213325 duplication NM_007294.3(BRCA1):c.2043dupT (p.Asn682Terfs) 863224510 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41245505 41245505 A AA 213325 duplication NM_007294.3(BRCA1):c.2043dupT (p.Asn682Terfs) 863224510 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43093488 43093488 A AA 213326 single nucleotide variant NM_007294.3(BRCA1):c.1837A>G (p.Arg613Gly) 863224753 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245711 41245711 T C 213326 single nucleotide variant NM_007294.3(BRCA1):c.1837A>G (p.Arg613Gly) 863224753 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093694 43093694 T C 213327 single nucleotide variant NM_007294.3(BRCA1):c.1134C>A (p.Ser378Arg) 863224752 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43094397 43094397 G T 213327 single nucleotide variant NM_007294.3(BRCA1):c.1134C>A (p.Ser378Arg) 863224752 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41246414 41246414 G T 213328 single nucleotide variant NM_007294.3(BRCA1):c.1017G>A (p.Lys339=) 863224416 MedGen:C0677776,Orphanet:ORPHA145 17 41246531 41246531 C T 213328 single nucleotide variant NM_007294.3(BRCA1):c.1017G>A (p.Lys339=) 863224416 MedGen:C0677776,Orphanet:ORPHA145 17 43094514 43094514 C T 213329 single nucleotide variant NM_007294.3(BRCA1):c.941C>T (p.Ala314Val) 863224766 MedGen:C0677776,Orphanet:ORPHA145 17 41246607 41246607 G A 213329 single nucleotide variant NM_007294.3(BRCA1):c.941C>T (p.Ala314Val) 863224766 MedGen:C0677776,Orphanet:ORPHA145 17 43094590 43094590 G A 213330 single nucleotide variant NM_007294.3(BRCA1):c.593+8A>G 863224421 MedGen:C0677776,Orphanet:ORPHA145 17 43097236 43097236 T C 213330 single nucleotide variant NM_007294.3(BRCA1):c.593+8A>G 863224421 MedGen:C0677776,Orphanet:ORPHA145 17 41249253 41249253 T C 213331 deletion NM_007294.3(BRCA1):c.490delA (p.Thr164Leufs) 863224512 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41251849 41251849 T - 213331 deletion NM_007294.3(BRCA1):c.490delA (p.Thr164Leufs) 863224512 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43099832 43099832 T - 213332 single nucleotide variant NM_007294.3(BRCA1):c.441+18C>T 371973519 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41256121 41256121 G A 213332 single nucleotide variant NM_007294.3(BRCA1):c.441+18C>T 371973519 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43104104 43104104 G A 213333 single nucleotide variant NM_007294.3(BRCA1):c.410T>C (p.Leu137Pro) 751078452 MedGen:C0677776,Orphanet:ORPHA145 17 43104153 43104153 A G 213333 single nucleotide variant NM_007294.3(BRCA1):c.410T>C (p.Leu137Pro) 751078452 MedGen:C0677776,Orphanet:ORPHA145 17 41256170 41256170 A G 213334 single nucleotide variant NM_007294.3(BRCA1):c.301+12A>C 863224757 MedGen:C0677776,Orphanet:ORPHA145 17 43104856 43104856 T G 213334 single nucleotide variant NM_007294.3(BRCA1):c.301+12A>C 863224757 MedGen:C0677776,Orphanet:ORPHA145 17 41256873 41256873 T G 213335 single nucleotide variant NM_007294.3(BRCA1):c.274G>C (p.Ala92Pro) 863224755 MedGen:C0677776,Orphanet:ORPHA145 17 43104895 43104895 C G 213335 single nucleotide variant NM_007294.3(BRCA1):c.274G>C (p.Ala92Pro) 863224755 MedGen:C0677776,Orphanet:ORPHA145 17 41256912 41256912 C G 213336 single nucleotide variant NM_007294.3(BRCA1):c.243A>G (p.Gln81=) 863224418 MedGen:C0677776,Orphanet:ORPHA145 17 41256943 41256943 T C 213336 single nucleotide variant NM_007294.3(BRCA1):c.243A>G (p.Gln81=) 863224418 MedGen:C0677776,Orphanet:ORPHA145 17 43104926 43104926 T C 213337 single nucleotide variant NM_007294.3(BRCA1):c.135-11A>G 769549104 MedGen:C0677776,Orphanet:ORPHA145 17 41258561 41258561 T C 213337 single nucleotide variant NM_007294.3(BRCA1):c.135-11A>G 769549104 MedGen:C0677776,Orphanet:ORPHA145 17 43106544 43106544 T C 213338 single nucleotide variant NM_007294.3(BRCA1):c.135-16T>G 775525479 MedGen:C0677776,Orphanet:ORPHA145 17 43106549 43106549 A C 213338 single nucleotide variant NM_007294.3(BRCA1):c.135-16T>G 775525479 MedGen:C0677776,Orphanet:ORPHA145 17 41258566 41258566 A C 213339 single nucleotide variant NM_007294.3(BRCA1):c.134+15G>A 863224417 MedGen:C0677776,Orphanet:ORPHA145 17 41267728 41267728 C T 213339 single nucleotide variant NM_007294.3(BRCA1):c.134+15G>A 863224417 MedGen:C0677776,Orphanet:ORPHA145 17 43115711 43115711 C T 213340 single nucleotide variant NM_007294.3(BRCA1):c.81-17C>G 757442952 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41267813 41267813 G C 213340 single nucleotide variant NM_007294.3(BRCA1):c.81-17C>G 757442952 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43115796 43115796 G C 214915 deletion NM_007294.3(BRCA1):c.(?_-1)_134+?del -1 MedGen:C0677776,Orphanet:ORPHA145 17 41267743 41276114 na na 214915 deletion NM_007294.3(BRCA1):c.(?_-1)_134+?del -1 MedGen:C0677776,Orphanet:ORPHA145 17 43115726 43124097 na na 214916 deletion NM_007294.3(BRCA1):c.(?_-1)_80+?del -1 MedGen:C0677776,Orphanet:ORPHA145 17 41276034 41276114 na na 214916 deletion NM_007294.3(BRCA1):c.(?_-1)_80+?del -1 MedGen:C0677776,Orphanet:ORPHA145 17 43124017 43124097 na na 222546 deletion NM_007294.3(BRCA1):c.5407-?_*(1_?)del -1 MedGen:C0677776,Orphanet:ORPHA145 17 43045677 43047703 na na 222546 deletion NM_007294.3(BRCA1):c.5407-?_*(1_?)del -1 MedGen:C0677776,Orphanet:ORPHA145 17 41197694 41199720 na na 222547 deletion NM_007294.3(BRCA1):c.548-?_4185+?del -1 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 na -1 -1 na na 222548 duplication NM_007294.3(BRCA1):c.135-?_441+?dup -1 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 na -1 -1 na na 222549 duplication NM_007294.3(BRCA1):c.(?_-1)_80+?dup -1 MedGen:C0677776,Orphanet:ORPHA145 17 43124017 43124097 na na 222549 duplication NM_007294.3(BRCA1):c.(?_-1)_80+?dup -1 MedGen:C0677776,Orphanet:ORPHA145 17 41276034 41276114 na na 222644 single nucleotide variant NM_007294.3(BRCA1):c.*58C>T 137892861 MedGen:C0677776,Orphanet:ORPHA145 17 41197637 41197637 G A 222644 single nucleotide variant NM_007294.3(BRCA1):c.*58C>T 137892861 MedGen:C0677776,Orphanet:ORPHA145 17 43045620 43045620 G A 222645 deletion NM_007294.3(BRCA1):c.5525delT (p.Val1842Glufs) 864622220 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43045745 43045745 A - 222645 deletion NM_007294.3(BRCA1):c.5525delT (p.Val1842Glufs) 864622220 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41197762 41197762 A - 222646 single nucleotide variant NM_007294.3(BRCA1):c.5372T>C (p.Val1791Ala) 864622244 MedGen:C0677776,Orphanet:ORPHA145 17 43049155 43049155 A G 222646 single nucleotide variant NM_007294.3(BRCA1):c.5372T>C (p.Val1791Ala) 864622244 MedGen:C0677776,Orphanet:ORPHA145 17 41201172 41201172 A G 222647 single nucleotide variant NM_007294.3(BRCA1):c.5332+13G>T 372391060 MedGen:C0677776,Orphanet:ORPHA145 17 41203067 41203067 C A 222647 single nucleotide variant NM_007294.3(BRCA1):c.5332+13G>T 372391060 MedGen:C0677776,Orphanet:ORPHA145 17 43051050 43051050 C A 222648 single nucleotide variant NM_007294.3(BRCA1):c.5310G>C (p.Gly1770=) 273901761 MedGen:C0677776,Orphanet:ORPHA145 17 43051085 43051085 C G 222648 single nucleotide variant NM_007294.3(BRCA1):c.5310G>C (p.Gly1770=) 273901761 MedGen:C0677776,Orphanet:ORPHA145 17 41203102 41203102 C G 222649 single nucleotide variant NM_007294.3(BRCA1):c.5277+20G>A 766950602 MedGen:C0677776,Orphanet:ORPHA145 17 43057032 43057032 C T 222649 single nucleotide variant NM_007294.3(BRCA1):c.5277+20G>A 766950602 MedGen:C0677776,Orphanet:ORPHA145 17 41209049 41209049 C T 222650 single nucleotide variant NM_007294.3(BRCA1):c.5225A>G (p.Asn1742Ser) 864622104 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41209121 41209121 T C 222650 single nucleotide variant NM_007294.3(BRCA1):c.5225A>G (p.Asn1742Ser) 864622104 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43057104 43057104 T C 222651 single nucleotide variant NM_007294.3(BRCA1):c.5152+5G>C 80358165 MedGen:C0677776,Orphanet:ORPHA145 17 41215886 41215886 C G 222651 single nucleotide variant NM_007294.3(BRCA1):c.5152+5G>C 80358165 MedGen:C0677776,Orphanet:ORPHA145 17 43063869 43063869 C G 222652 single nucleotide variant NM_007294.3(BRCA1):c.4971G>C (p.Leu1657=) 786202058 MedGen:C0677776,Orphanet:ORPHA145 17 41222960 41222960 C G 222652 single nucleotide variant NM_007294.3(BRCA1):c.4971G>C (p.Leu1657=) 786202058 MedGen:C0677776,Orphanet:ORPHA145 17 43070943 43070943 C G 222653 duplication NM_007294.3(BRCA1):c.4709dupT (p.Phe1571Leufs) 864622132 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41223222 41223222 A AA 222653 duplication NM_007294.3(BRCA1):c.4709dupT (p.Phe1571Leufs) 864622132 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43071205 43071205 A AA 222654 single nucleotide variant NM_007294.3(BRCA1):c.4641G>T (p.Leu1547Phe) 864622265 MedGen:C0677776,Orphanet:ORPHA145 17 41226382 41226382 C A 222654 single nucleotide variant NM_007294.3(BRCA1):c.4641G>T (p.Leu1547Phe) 864622265 MedGen:C0677776,Orphanet:ORPHA145 17 43074365 43074365 C A 222655 single nucleotide variant NM_007294.3(BRCA1):c.4552C>G (p.Gln1518Glu) 80356881 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43074454 43074454 G C 222655 single nucleotide variant NM_007294.3(BRCA1):c.4552C>G (p.Gln1518Glu) 80356881 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41226471 41226471 G C 222656 deletion NM_007294.3(BRCA1):c.4357+5_4357+6delGT 864622119 MedGen:C0677776,Orphanet:ORPHA145 17 43082398 43082399 AC - 222656 deletion NM_007294.3(BRCA1):c.4357+5_4357+6delGT 864622119 MedGen:C0677776,Orphanet:ORPHA145 17 41234415 41234416 AC - 222657 single nucleotide variant NM_007294.3(BRCA1):c.4182T>C (p.Thr1394=) 864622540 MedGen:C0677776,Orphanet:ORPHA145 17 43090947 43090947 A G 222657 single nucleotide variant NM_007294.3(BRCA1):c.4182T>C (p.Thr1394=) 864622540 MedGen:C0677776,Orphanet:ORPHA145 17 41242964 41242964 A G 222658 single nucleotide variant NM_007294.3(BRCA1):c.4047G>A (p.Thr1349=) 758515222 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41243501 41243501 C T 222658 single nucleotide variant NM_007294.3(BRCA1):c.4047G>A (p.Thr1349=) 758515222 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43091484 43091484 C T 222659 single nucleotide variant NM_007294.3(BRCA1):c.3931A>G (p.Asn1311Asp) 864622233 MedGen:C0677776,Orphanet:ORPHA145 17 43091600 43091600 T C 222659 single nucleotide variant NM_007294.3(BRCA1):c.3931A>G (p.Asn1311Asp) 864622233 MedGen:C0677776,Orphanet:ORPHA145 17 41243617 41243617 T C 222660 single nucleotide variant NM_007294.3(BRCA1):c.3929C>G (p.Thr1310Arg) 80357257 MedGen:C0677776,Orphanet:ORPHA145 17 43091602 43091602 G C 222660 single nucleotide variant NM_007294.3(BRCA1):c.3929C>G (p.Thr1310Arg) 80357257 MedGen:C0677776,Orphanet:ORPHA145 17 41243619 41243619 G C 222661 single nucleotide variant NM_007294.3(BRCA1):c.3573C>T (p.Ser1191=) 864622080 MedGen:C0677776,Orphanet:ORPHA145 17 41243975 41243975 G A 222661 single nucleotide variant NM_007294.3(BRCA1):c.3573C>T (p.Ser1191=) 864622080 MedGen:C0677776,Orphanet:ORPHA145 17 43091958 43091958 G A 222662 single nucleotide variant NM_007294.3(BRCA1):c.3468T>C (p.Asp1156=) 864622146 MedGen:C0677776,Orphanet:ORPHA145 17 43092063 43092063 A G 222662 single nucleotide variant NM_007294.3(BRCA1):c.3468T>C (p.Asp1156=) 864622146 MedGen:C0677776,Orphanet:ORPHA145 17 41244080 41244080 A G 222663 single nucleotide variant NM_007294.3(BRCA1):c.2841A>T (p.Lys947Asn) 864622618 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41244707 41244707 T A 222663 single nucleotide variant NM_007294.3(BRCA1):c.2841A>T (p.Lys947Asn) 864622618 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43092690 43092690 T A 222664 single nucleotide variant NM_007294.3(BRCA1):c.2791G>T (p.Val931Leu) 763639161 MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 43092740 43092740 C A 222664 single nucleotide variant NM_007294.3(BRCA1):c.2791G>T (p.Val931Leu) 763639161 MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 41244757 41244757 C A 222665 single nucleotide variant NM_007294.3(BRCA1):c.2747A>T (p.Asn916Ile) 864622588 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43092784 43092784 T A 222665 single nucleotide variant NM_007294.3(BRCA1):c.2747A>T (p.Asn916Ile) 864622588 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41244801 41244801 T A 222666 single nucleotide variant NM_007294.3(BRCA1):c.2604A>C (p.Ser868=) 864622491 MedGen:C0677776,Orphanet:ORPHA145 17 43092927 43092927 T G 222666 single nucleotide variant NM_007294.3(BRCA1):c.2604A>C (p.Ser868=) 864622491 MedGen:C0677776,Orphanet:ORPHA145 17 41244944 41244944 T G 222667 single nucleotide variant NM_007294.3(BRCA1):c.2567A>G (p.Tyr856Cys) 864622122 MedGen:C0677776,Orphanet:ORPHA145 17 41244981 41244981 T C 222667 single nucleotide variant NM_007294.3(BRCA1):c.2567A>G (p.Tyr856Cys) 864622122 MedGen:C0677776,Orphanet:ORPHA145 17 43092964 43092964 T C 222668 single nucleotide variant NM_007294.3(BRCA1):c.2496A>T (p.Pro832=) 767666029 MedGen:C0677776,Orphanet:ORPHA145 17 41245052 41245052 T A 222668 single nucleotide variant NM_007294.3(BRCA1):c.2496A>T (p.Pro832=) 767666029 MedGen:C0677776,Orphanet:ORPHA145 17 43093035 43093035 T A 222669 duplication NM_007294.3(BRCA1):c.2378dupA (p.Ala794Glyfs) 864622536 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41245170 41245170 T TT 222669 duplication NM_007294.3(BRCA1):c.2378dupA (p.Ala794Glyfs) 864622536 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43093153 43093153 T TT 222670 single nucleotide variant NM_007294.3(BRCA1):c.1998A>G (p.Leu666=) 864622452 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41245550 41245550 T C 222670 single nucleotide variant NM_007294.3(BRCA1):c.1998A>G (p.Leu666=) 864622452 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43093533 43093533 T C 222671 single nucleotide variant NM_007294.3(BRCA1):c.1873C>T (p.Leu625=) 769044421 MedGen:C0677776,Orphanet:ORPHA145 17 41245675 41245675 G A 222671 single nucleotide variant NM_007294.3(BRCA1):c.1873C>T (p.Leu625=) 769044421 MedGen:C0677776,Orphanet:ORPHA145 17 43093658 43093658 G A 222672 single nucleotide variant NM_007294.3(BRCA1):c.1294C>T (p.Leu432=) 864622454 MedGen:C0677776,Orphanet:ORPHA145 17 41246254 41246254 G A 222672 single nucleotide variant NM_007294.3(BRCA1):c.1294C>T (p.Leu432=) 864622454 MedGen:C0677776,Orphanet:ORPHA145 17 43094237 43094237 G A 222673 single nucleotide variant NM_007294.3(BRCA1):c.1135A>G (p.Ile379Val) 864622723 MedGen:C0677776,Orphanet:ORPHA145 17 41246413 41246413 T C 222673 single nucleotide variant NM_007294.3(BRCA1):c.1135A>G (p.Ile379Val) 864622723 MedGen:C0677776,Orphanet:ORPHA145 17 43094396 43094396 T C 222674 single nucleotide variant NM_007294.3(BRCA1):c.951A>G (p.Gln317=) 759419385 MedGen:C0677776,Orphanet:ORPHA145 17 43094580 43094580 T C 222674 single nucleotide variant NM_007294.3(BRCA1):c.951A>G (p.Gln317=) 759419385 MedGen:C0677776,Orphanet:ORPHA145 17 41246597 41246597 T C 222675 single nucleotide variant NM_007294.3(BRCA1):c.594-18T>C 864622306 MedGen:C0677776,Orphanet:ORPHA145 17 43095940 43095940 A G 222675 single nucleotide variant NM_007294.3(BRCA1):c.594-18T>C 864622306 MedGen:C0677776,Orphanet:ORPHA145 17 41247957 41247957 A G 222676 duplication NM_007294.3(BRCA1):c.531dupT (p.Val178Cysfs) 864622350 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41251808 41251808 A AA 222676 duplication NM_007294.3(BRCA1):c.531dupT (p.Val178Cysfs) 864622350 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43099791 43099791 A AA 222677 single nucleotide variant NM_007294.3(BRCA1):c.465A>C (p.Gln155His) 864622260 MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 41251874 41251874 T G 222677 single nucleotide variant NM_007294.3(BRCA1):c.465A>C (p.Gln155His) 864622260 MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 43099857 43099857 T G 222678 single nucleotide variant NM_007294.3(BRCA1):c.441G>C (p.Leu147Phe) 748876625 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41256139 41256139 C G 222678 single nucleotide variant NM_007294.3(BRCA1):c.441G>C (p.Leu147Phe) 748876625 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43104122 43104122 C G 222679 single nucleotide variant NM_007294.3(BRCA1):c.382A>G (p.Met128Val) 864622124 MedGen:C0677776,Orphanet:ORPHA145 17 41256198 41256198 T C 222679 single nucleotide variant NM_007294.3(BRCA1):c.382A>G (p.Met128Val) 864622124 MedGen:C0677776,Orphanet:ORPHA145 17 43104181 43104181 T C 222680 single nucleotide variant NM_007294.3(BRCA1):c.301+19A>G 864622737 MedGen:C0677776,Orphanet:ORPHA145 17 43104849 43104849 T C 222680 single nucleotide variant NM_007294.3(BRCA1):c.301+19A>G 864622737 MedGen:C0677776,Orphanet:ORPHA145 17 41256866 41256866 T C 222681 single nucleotide variant NM_007294.3(BRCA1):c.287A>G (p.Asp96Gly) 864622444 MedGen:C0677776,Orphanet:ORPHA145 17 41256899 41256899 T C 222681 single nucleotide variant NM_007294.3(BRCA1):c.287A>G (p.Asp96Gly) 864622444 MedGen:C0677776,Orphanet:ORPHA145 17 43104882 43104882 T C 222682 single nucleotide variant NM_007294.3(BRCA1):c.212+17T>C 369461674 MedGen:C0677776,Orphanet:ORPHA145 17 41258456 41258456 A G 222682 single nucleotide variant NM_007294.3(BRCA1):c.212+17T>C 369461674 MedGen:C0677776,Orphanet:ORPHA145 17 43106439 43106439 A G 222683 single nucleotide variant NM_007294.3(BRCA1):c.107C>A (p.Ser36Tyr) 183557525 MedGen:C0677776,Orphanet:ORPHA145 17 41267770 41267770 G T 222683 single nucleotide variant NM_007294.3(BRCA1):c.107C>A (p.Ser36Tyr) 183557525 MedGen:C0677776,Orphanet:ORPHA145 17 43115753 43115753 G T 222684 single nucleotide variant NM_007294.3(BRCA1):c.81-18C>A 864622534 MedGen:C0677776,Orphanet:ORPHA145 17 43115797 43115797 G T 222684 single nucleotide variant NM_007294.3(BRCA1):c.81-18C>A 864622534 MedGen:C0677776,Orphanet:ORPHA145 17 41267814 41267814 G T 222685 single nucleotide variant NM_007294.3(BRCA1):c.80+17G>A 540373654 MedGen:C0677776,Orphanet:ORPHA145 17 41276017 41276017 C T 222685 single nucleotide variant NM_007294.3(BRCA1):c.80+17G>A 540373654 MedGen:C0677776,Orphanet:ORPHA145 17 43124000 43124000 C T 224600 duplication NM_007294.3(BRCA1):c.4647_4648dupAA (p.Thr1550Lysfs) 869025213 MedGen:C2676676,OMIM:604370 17 41226375 41226376 TT TTTT 224600 duplication NM_007294.3(BRCA1):c.4647_4648dupAA (p.Thr1550Lysfs) 869025213 MedGen:C2676676,OMIM:604370 17 43074358 43074359 TT TTTT 225280 single nucleotide variant NM_007294.3(BRCA1):c.81-3985A>T 543267121 MedGen:C0027672,SNOMED CT:C0027672 17 43119764 43119764 T A 225280 single nucleotide variant NM_007294.3(BRCA1):c.81-3985A>T 543267121 MedGen:C0027672,SNOMED CT:C0027672 17 41271781 41271781 T A 225281 single nucleotide variant NM_007294.3(BRCA1):c.80+3843C>G 869312508 MedGen:C0027672,SNOMED CT:C0027672 17 43120174 43120174 G C 225281 single nucleotide variant NM_007294.3(BRCA1):c.80+3843C>G 869312508 MedGen:C0027672,SNOMED CT:C0027672 17 41272191 41272191 G C 225282 single nucleotide variant NM_007294.3(BRCA1):c.302-167T>C 869312509 MedGen:C0027672,SNOMED CT:C0027672 17 43104428 43104428 A G 225282 single nucleotide variant NM_007294.3(BRCA1):c.302-167T>C 869312509 MedGen:C0027672,SNOMED CT:C0027672 17 41256445 41256445 A G 225283 single nucleotide variant NM_007294.3(BRCA1):c.5467+741C>A 76558677 MedGen:C0027672,SNOMED CT:C0027672 17 43046902 43046902 G T 225283 single nucleotide variant NM_007294.3(BRCA1):c.5467+741C>A 76558677 MedGen:C0027672,SNOMED CT:C0027672 17 41198919 41198919 G T 225284 single nucleotide variant NM_007294.3(BRCA1):c.81-4118G>A 869312510 MedGen:C0027672,SNOMED CT:C0027672 17 43119897 43119897 C T 225284 single nucleotide variant NM_007294.3(BRCA1):c.81-4118G>A 869312510 MedGen:C0027672,SNOMED CT:C0027672 17 41271914 41271914 C T 225285 single nucleotide variant NM_007294.3(BRCA1):c.4357+810T>G 869312511 MedGen:C0027672,SNOMED CT:C0027672 17 43081594 43081594 A C 225285 single nucleotide variant NM_007294.3(BRCA1):c.4357+810T>G 869312511 MedGen:C0027672,SNOMED CT:C0027672 17 41233611 41233611 A C 225286 single nucleotide variant NM_007294.3(BRCA1):c.4675+819G>A 762074644 MedGen:C0027672,SNOMED CT:C0027672 17 43073512 43073512 C T 225286 single nucleotide variant NM_007294.3(BRCA1):c.4675+819G>A 762074644 MedGen:C0027672,SNOMED CT:C0027672 17 41225529 41225529 C T 225287 single nucleotide variant NM_007294.3(BRCA1):c.80+4105A>C 869312512 MedGen:C0027672,SNOMED CT:C0027672 17 43119912 43119912 T G 225287 single nucleotide variant NM_007294.3(BRCA1):c.80+4105A>C 869312512 MedGen:C0027672,SNOMED CT:C0027672 17 41271929 41271929 T G 225288 single nucleotide variant NM_007294.3(BRCA1):c.4186-2482T>C 869312513 MedGen:C0027672,SNOMED CT:C0027672 17 43085057 43085057 A G 225288 single nucleotide variant NM_007294.3(BRCA1):c.4186-2482T>C 869312513 MedGen:C0027672,SNOMED CT:C0027672 17 41237074 41237074 A G 225289 single nucleotide variant NM_007294.3(BRCA1):c.5333-832T>C 869312514 MedGen:C0027672,SNOMED CT:C0027672 17 43050026 43050026 A G 225289 single nucleotide variant NM_007294.3(BRCA1):c.5333-832T>C 869312514 MedGen:C0027672,SNOMED CT:C0027672 17 41202043 41202043 A G 225290 single nucleotide variant NM_007294.3(BRCA1):c.4358-1950A>C 869312515 MedGen:C0027672,SNOMED CT:C0027672 17 43078564 43078564 T G 225290 single nucleotide variant NM_007294.3(BRCA1):c.4358-1950A>C 869312515 MedGen:C0027672,SNOMED CT:C0027672 17 41230581 41230581 T G 225291 single nucleotide variant NM_007294.3(BRCA1):c.548-565A>G 143496131 MedGen:C0027672,SNOMED CT:C0027672 17 43097854 43097854 T C 225291 single nucleotide variant NM_007294.3(BRCA1):c.548-565A>G 143496131 MedGen:C0027672,SNOMED CT:C0027672 17 41249871 41249871 T C 225292 single nucleotide variant NM_007294.3(BRCA1):c.4675+918T>C 554926201 MedGen:C0027672,SNOMED CT:C0027672 17 43073413 43073413 A G 225292 single nucleotide variant NM_007294.3(BRCA1):c.4675+918T>C 554926201 MedGen:C0027672,SNOMED CT:C0027672 17 41225430 41225430 A G 225293 single nucleotide variant NM_007294.3(BRCA1):c.4358-2859G>A 191331108 MedGen:C0027672,SNOMED CT:C0027672 17 43079473 43079473 C T 225293 single nucleotide variant NM_007294.3(BRCA1):c.4358-2859G>A 191331108 MedGen:C0027672,SNOMED CT:C0027672 17 41231490 41231490 C T 225294 single nucleotide variant NM_007294.3(BRCA1):c.4358-2858G>T 186914333 MedGen:C0027672,SNOMED CT:C0027672 17 43079472 43079472 C A 225294 single nucleotide variant NM_007294.3(BRCA1):c.4358-2858G>T 186914333 MedGen:C0027672,SNOMED CT:C0027672 17 41231489 41231489 C A 225295 single nucleotide variant NM_007294.3(BRCA1):c.441+346G>T 752284897 MedGen:C0027672,SNOMED CT:C0027672 17 43103776 43103776 C A 225295 single nucleotide variant NM_007294.3(BRCA1):c.441+346G>T 752284897 MedGen:C0027672,SNOMED CT:C0027672 17 41255793 41255793 C A 225296 single nucleotide variant NM_007294.3(BRCA1):c.4987-635A>G 190756329 MedGen:C0027672,SNOMED CT:C0027672 17 43068330 43068330 T C 225296 single nucleotide variant NM_007294.3(BRCA1):c.4987-635A>G 190756329 MedGen:C0027672,SNOMED CT:C0027672 17 41220347 41220347 T C 225297 single nucleotide variant NM_007294.3(BRCA1):c.4186-3277T>C 869312516 MedGen:C0027672,SNOMED CT:C0027672 17 43085852 43085852 A G 225297 single nucleotide variant NM_007294.3(BRCA1):c.4186-3277T>C 869312516 MedGen:C0027672,SNOMED CT:C0027672 17 41237869 41237869 A G 225298 single nucleotide variant NM_007294.3(BRCA1):c.4186-2646G>C 758535463 MedGen:C0027672,SNOMED CT:C0027672 17 43085221 43085221 C G 225298 single nucleotide variant NM_007294.3(BRCA1):c.4186-2646G>C 758535463 MedGen:C0027672,SNOMED CT:C0027672 17 41237238 41237238 C G 225299 single nucleotide variant NM_007294.3(BRCA1):c.5075-742T>A 8176253 MedGen:C0027672,SNOMED CT:C0027672 17 43064693 43064693 A T 225299 single nucleotide variant NM_007294.3(BRCA1):c.5075-742T>A 8176253 MedGen:C0027672,SNOMED CT:C0027672 17 41216710 41216710 A T 225300 single nucleotide variant NM_007294.3(BRCA1):c.135-3743G>A 869312517 MedGen:C0027672,SNOMED CT:C0027672 17 43110276 43110276 C T 225300 single nucleotide variant NM_007294.3(BRCA1):c.135-3743G>A 869312517 MedGen:C0027672,SNOMED CT:C0027672 17 41262293 41262293 C T 225301 single nucleotide variant NM_007294.3(BRCA1):c.135-226T>A 189133089 MedGen:C0027672,SNOMED CT:C0027672 17 43106759 43106759 A T 225301 single nucleotide variant NM_007294.3(BRCA1):c.135-226T>A 189133089 MedGen:C0027672,SNOMED CT:C0027672 17 41258776 41258776 A T 225302 single nucleotide variant NM_007294.3(BRCA1):c.547+594A>G 552681627 MedGen:C0027672,SNOMED CT:C0027672 17 43099181 43099181 T C 225302 single nucleotide variant NM_007294.3(BRCA1):c.547+594A>G 552681627 MedGen:C0027672,SNOMED CT:C0027672 17 41251198 41251198 T C 225303 single nucleotide variant NM_007294.3(BRCA1):c.5333-786G>A 546185232 MedGen:C0027672,SNOMED CT:C0027672 17 43049980 43049980 C T 225303 single nucleotide variant NM_007294.3(BRCA1):c.5333-786G>A 546185232 MedGen:C0027672,SNOMED CT:C0027672 17 41201997 41201997 C T 225304 single nucleotide variant NM_007294.3(BRCA1):c.4986+1566A>G 781673566 MedGen:C0027672,SNOMED CT:C0027672 17 43069362 43069362 T C 225304 single nucleotide variant NM_007294.3(BRCA1):c.4986+1566A>G 781673566 MedGen:C0027672,SNOMED CT:C0027672 17 41221379 41221379 T C 225305 single nucleotide variant NM_007294.3(BRCA1):c.4676-487G>A 869312518 MedGen:C0027672,SNOMED CT:C0027672 17 43071725 43071725 C T 225305 single nucleotide variant NM_007294.3(BRCA1):c.4676-487G>A 869312518 MedGen:C0027672,SNOMED CT:C0027672 17 41223742 41223742 C T 225306 single nucleotide variant NM_007294.3(BRCA1):c.4185+3992C>G 150347361 MedGen:C0027672,SNOMED CT:C0027672 17 41238969 41238969 G C 225306 single nucleotide variant NM_007294.3(BRCA1):c.4185+3992C>G 150347361 MedGen:C0027672,SNOMED CT:C0027672 17 43086952 43086952 G C 225307 single nucleotide variant NM_007294.3(BRCA1):c.-19-537G>A 869312519 MedGen:C0027672,SNOMED CT:C0027672 17 43124652 43124652 C T 225307 single nucleotide variant NM_007294.3(BRCA1):c.-19-537G>A 869312519 MedGen:C0027672,SNOMED CT:C0027672 17 41276669 41276669 C T 225308 single nucleotide variant NM_007294.3(BRCA1):c.5153-150A>C 869312520 MedGen:C0027672,SNOMED CT:C0027672 17 43063523 43063523 T G 225308 single nucleotide variant NM_007294.3(BRCA1):c.5153-150A>C 869312520 MedGen:C0027672,SNOMED CT:C0027672 17 41215540 41215540 T G 225309 single nucleotide variant NM_007294.3(BRCA1):c.4987-1085A>G 869312521 MedGen:C0027672,SNOMED CT:C0027672 17 43068780 43068780 T C 225309 single nucleotide variant NM_007294.3(BRCA1):c.4987-1085A>G 869312521 MedGen:C0027672,SNOMED CT:C0027672 17 41220797 41220797 T C 225310 single nucleotide variant NM_007294.3(BRCA1):c.4675+53C>A 869312522 MedGen:C0027672,SNOMED CT:C0027672 17 43074278 43074278 G T 225310 single nucleotide variant NM_007294.3(BRCA1):c.4675+53C>A 869312522 MedGen:C0027672,SNOMED CT:C0027672 17 41226295 41226295 G T 226192 deletion NM_007294.3(BRCA1):c.5562delG (p.Ile1855Tyrfs) 886037795 MedGen:CN221572 17 43045708 43045708 C - 226192 deletion NM_007294.3(BRCA1):c.5562delG (p.Ile1855Tyrfs) 886037795 MedGen:CN221572 17 41197725 41197725 C - 226193 single nucleotide variant NM_007294.3(BRCA1):c.4803A>G (p.Lys1601=) 886037794 MedGen:CN221572 17 41223128 41223128 T C 226193 single nucleotide variant NM_007294.3(BRCA1):c.4803A>G (p.Lys1601=) 886037794 MedGen:CN221572 17 43071111 43071111 T C 226194 deletion NM_007294.3(BRCA1):c.4755delA (p.Glu1586Serfs) 886037789 MedGen:CN221572 17 43071159 43071159 T - 226194 deletion NM_007294.3(BRCA1):c.4755delA (p.Glu1586Serfs) 886037789 MedGen:CN221572 17 41223176 41223176 T - 226195 deletion NM_007294.3(BRCA1):c.4712delT (p.Phe1571Serfs) 886037790 MedGen:CN221572 17 43071202 43071202 A - 226195 deletion NM_007294.3(BRCA1):c.4712delT (p.Phe1571Serfs) 886037790 MedGen:CN221572 17 41223219 41223219 A - 226196 single nucleotide variant NM_007294.3(BRCA1):c.4704C>T (p.Ile1568=) 886037793 MedGen:CN221572 17 41223227 41223227 G A 226196 single nucleotide variant NM_007294.3(BRCA1):c.4704C>T (p.Ile1568=) 886037793 MedGen:CN221572 17 43071210 43071210 G A 226197 single nucleotide variant NM_007294.3(BRCA1):c.4189A>C (p.Arg1397=) 886037792 MedGen:CN221572 17 41234589 41234589 T G 226197 single nucleotide variant NM_007294.3(BRCA1):c.4189A>C (p.Arg1397=) 886037792 MedGen:CN221572 17 43082572 43082572 T G 226198 single nucleotide variant NM_007294.3(BRCA1):c.4159T>C (p.Ser1387Pro) 876658221 MedGen:CN221572;MedGen:C0027672,SNOMED CT:C0027672 17 41242987 41242987 A G 226198 single nucleotide variant NM_007294.3(BRCA1):c.4159T>C (p.Ser1387Pro) 876658221 MedGen:CN221572;MedGen:C0027672,SNOMED CT:C0027672 17 43090970 43090970 A G 226199 insertion NM_007294.3(BRCA1):c.4069_4070insTTGA (p.Glu1357Valfs) 886037788 MedGen:CN221572 17 41243478 41243479 - TCAA 226199 insertion NM_007294.3(BRCA1):c.4069_4070insTTGA (p.Glu1357Valfs) 886037788 MedGen:CN221572 17 43091461 43091462 - TCAA 226200 deletion NM_007294.3(BRCA1):c.3819_3823delGGTAA (p.Gln1273Hisfs) 886037785 MedGen:CN221572 17 41243725 41243729 TTACC - 226200 deletion NM_007294.3(BRCA1):c.3819_3823delGGTAA (p.Gln1273Hisfs) 886037785 MedGen:CN221572 17 43091708 43091712 TTACC - 226201 single nucleotide variant NM_007294.3(BRCA1):c.3071G>C (p.Ser1024Thr) 757579891 MedGen:CN221572 17 41244477 41244477 C G 226201 single nucleotide variant NM_007294.3(BRCA1):c.3071G>C (p.Ser1024Thr) 757579891 MedGen:CN221572 17 43092460 43092460 C G 226202 single nucleotide variant NM_007294.3(BRCA1):c.2570T>A (p.Leu857Ter) 886037787 MedGen:CN221572 17 41244978 41244978 A T 226202 single nucleotide variant NM_007294.3(BRCA1):c.2570T>A (p.Leu857Ter) 886037787 MedGen:CN221572 17 43092961 43092961 A T 226203 insertion NM_007294.3(BRCA1):c.2556_2557insTTCACTTTTC (p.Asp853Phefs) 397508979 MedGen:CN221572 17 41244991 41244992 - GAAAAGTGAA 226203 insertion NM_007294.3(BRCA1):c.2556_2557insTTCACTTTTC (p.Asp853Phefs) 397508979 MedGen:CN221572 17 43092974 43092975 - GAAAAGTGAA 226204 single nucleotide variant NM_007294.3(BRCA1):c.2268G>T (p.Arg756Ser) 80356884 MedGen:CN221572 17 41245280 41245280 C A 226204 single nucleotide variant NM_007294.3(BRCA1):c.2268G>T (p.Arg756Ser) 80356884 MedGen:CN221572 17 43093263 43093263 C A 226205 single nucleotide variant NM_007294.3(BRCA1):c.1819A>G (p.Lys607Glu) 80357220 MedGen:CN221572 17 41245729 41245729 T C 226205 single nucleotide variant NM_007294.3(BRCA1):c.1819A>G (p.Lys607Glu) 80357220 MedGen:CN221572 17 43093712 43093712 T C 226206 duplication NM_007294.3(BRCA1):c.1299dupC (p.Ser434Glnfs) 886037786 MedGen:CN221572 17 43094232 43094232 G GG 226206 duplication NM_007294.3(BRCA1):c.1299dupC (p.Ser434Glnfs) 886037786 MedGen:CN221572 17 41246249 41246249 G GG 226207 single nucleotide variant NM_007294.3(BRCA1):c.837T>C (p.His279=) 775477245 MedGen:CN221572;MedGen:C0027672,SNOMED CT:C0027672 17 41246711 41246711 A G 226207 single nucleotide variant NM_007294.3(BRCA1):c.837T>C (p.His279=) 775477245 MedGen:CN221572;MedGen:C0027672,SNOMED CT:C0027672 17 43094694 43094694 A G 226208 single nucleotide variant NM_007294.3(BRCA1):c.744C>G (p.Thr248=) 886037791 MedGen:CN221572 17 41246804 41246804 G C 226208 single nucleotide variant NM_007294.3(BRCA1):c.744C>G (p.Thr248=) 886037791 MedGen:CN221572 17 43094787 43094787 G C 226209 deletion NM_007294.3(BRCA1):c.519delT (p.Gln174Lysfs) 886037784 MedGen:CN221572 17 43099803 43099803 A - 226209 deletion NM_007294.3(BRCA1):c.519delT (p.Gln174Lysfs) 886037784 MedGen:CN221572 17 41251820 41251820 A - 226210 single nucleotide variant NM_007294.3(BRCA1):c.213-2A>G 397508940 MedGen:CN221572;MedGen:C2676676,OMIM:604370 17 41256975 41256975 T C 226210 single nucleotide variant NM_007294.3(BRCA1):c.213-2A>G 397508940 MedGen:CN221572;MedGen:C2676676,OMIM:604370 17 43104958 43104958 T C 226211 single nucleotide variant NM_007294.3(BRCA1):c.192T>G (p.Cys64Trp) 587781632 MedGen:CN221572;MedGen:C2676676,OMIM:604370 17 41258493 41258493 A C 226211 single nucleotide variant NM_007294.3(BRCA1):c.192T>G (p.Cys64Trp) 587781632 MedGen:CN221572;MedGen:C2676676,OMIM:604370 17 43106476 43106476 A C 226212 deletion NM_007294.3(BRCA1):c.81_134del54 (p.Cys27_Ile379delinsTer) -1 MedGen:CN221572 17 43115726 43115779 na na 226212 deletion NM_007294.3(BRCA1):c.81_134del54 (p.Cys27_Ile379delinsTer) -1 MedGen:CN221572 17 41267743 41267796 na na 226213 deletion NM_007294.3(BRCA1):c.4677_5075del -1 MedGen:CN221572 na -1 -1 na na 226364 single nucleotide variant NM_007294.3(BRCA1):c.301+6T>C 753859240 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41256879 41256879 A G 226364 single nucleotide variant NM_007294.3(BRCA1):c.301+6T>C 753859240 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43104862 43104862 A G 226810 deletion NM_007294.3(BRCA1):c.81-?_134+?del -1 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 na -1 -1 na na 226828 deletion NM_007294.3(BRCA1):c.(?_-1)_(*1_?)del -1 MedGen:C0677776,Orphanet:ORPHA145 na -1 -1 na na 227390 duplication NM_007294.3(BRCA1):c.3629dupA (p.Ser1211Valfs) 886040154 MedGen:C2676676,OMIM:604370 17 41243919 41243919 T TT 227390 duplication NM_007294.3(BRCA1):c.3629dupA (p.Ser1211Valfs) 886040154 MedGen:C2676676,OMIM:604370 17 43091902 43091902 T TT 227561 single nucleotide variant NM_007294.3(BRCA1):c.4097-28A>G 869320777 MedGen:C2676676,OMIM:604370 17 43091060 43091060 T C 227557 single nucleotide variant NM_007294.3(BRCA1):c.5485G>A (p.Glu1829Lys) 869320789 MedGen:C2676676,OMIM:604370 17 41197802 41197802 C T 227557 single nucleotide variant NM_007294.3(BRCA1):c.5485G>A (p.Glu1829Lys) 869320789 MedGen:C2676676,OMIM:604370 17 43045785 43045785 C T 227558 single nucleotide variant NM_007294.3(BRCA1):c.5202T>G (p.Phe1734Leu) 869320780 MedGen:C2676676,OMIM:604370 17 41209144 41209144 A C 227558 single nucleotide variant NM_007294.3(BRCA1):c.5202T>G (p.Phe1734Leu) 869320780 MedGen:C2676676,OMIM:604370 17 43057127 43057127 A C 227559 single nucleotide variant NM_007294.3(BRCA1):c.4670A>G (p.Asp1557Gly) 869320779 MedGen:C2676676,OMIM:604370 17 41226353 41226353 T C 227559 single nucleotide variant NM_007294.3(BRCA1):c.4670A>G (p.Asp1557Gly) 869320779 MedGen:C2676676,OMIM:604370 17 43074336 43074336 T C 227560 single nucleotide variant NM_007294.3(BRCA1):c.4358-45A>G 869320778 MedGen:C2676676,OMIM:604370 17 41228676 41228676 T C 227560 single nucleotide variant NM_007294.3(BRCA1):c.4358-45A>G 869320778 MedGen:C2676676,OMIM:604370 17 43076659 43076659 T C 227561 single nucleotide variant NM_007294.3(BRCA1):c.4097-28A>G 869320777 MedGen:C2676676,OMIM:604370 17 41243077 41243077 T C 227562 single nucleotide variant NM_007294.3(BRCA1):c.3774G>A (p.Glu1258=) 431825399 MedGen:C2676676,OMIM:604370 17 41243774 41243774 C T 227562 single nucleotide variant NM_007294.3(BRCA1):c.3774G>A (p.Glu1258=) 431825399 MedGen:C2676676,OMIM:604370 17 43091757 43091757 C T 227563 single nucleotide variant NM_007294.3(BRCA1):c.1983G>A (p.Arg661=) 869320788 MedGen:C2676676,OMIM:604370 17 43093548 43093548 C T 227563 single nucleotide variant NM_007294.3(BRCA1):c.1983G>A (p.Arg661=) 869320788 MedGen:C2676676,OMIM:604370 17 41245565 41245565 C T 227564 deletion NM_007294.3(BRCA1):c.1600delC (p.Gln534Argfs) 869320776 MedGen:C2676676,OMIM:604370 17 43093931 43093931 G - 227564 deletion NM_007294.3(BRCA1):c.1600delC (p.Gln534Argfs) 869320776 MedGen:C2676676,OMIM:604370 17 41245948 41245948 G - 227565 single nucleotide variant NM_007294.3(BRCA1):c.1390A>G (p.Thr464Ala) 869320787 MedGen:C2676676,OMIM:604370 17 43094141 43094141 T C 227565 single nucleotide variant NM_007294.3(BRCA1):c.1390A>G (p.Thr464Ala) 869320787 MedGen:C2676676,OMIM:604370 17 41246158 41246158 T C 227566 single nucleotide variant NM_007294.3(BRCA1):c.1043G>A (p.Cys348Tyr) 752198747 MedGen:C2676676,OMIM:604370 17 41246505 41246505 C T 227566 single nucleotide variant NM_007294.3(BRCA1):c.1043G>A (p.Cys348Tyr) 752198747 MedGen:C2676676,OMIM:604370 17 43094488 43094488 C T 227567 deletion NM_007294.3(BRCA1):c.886delA (p.Arg296Glufs) 869320786 MedGen:C2676676,OMIM:604370 17 41246662 41246662 T - 227567 deletion NM_007294.3(BRCA1):c.886delA (p.Arg296Glufs) 869320786 MedGen:C2676676,OMIM:604370 17 43094645 43094645 T - 227568 single nucleotide variant NM_007294.3(BRCA1):c.594-34T>C 147314539 MedGen:C2676676,OMIM:604370 17 43095956 43095956 A G 227568 single nucleotide variant NM_007294.3(BRCA1):c.594-34T>C 147314539 MedGen:C2676676,OMIM:604370 17 41247973 41247973 A G 227569 deletion NM_007294.3(BRCA1):c.441+36_441+49delCTTTTCTTTTTTTT 373413425 MedGen:C2676676,OMIM:604370 17 43104073 43104086 AAAAAAAAGAAAAG - 227569 deletion NM_007294.3(BRCA1):c.441+36_441+49delCTTTTCTTTTTTTT 373413425 MedGen:C2676676,OMIM:604370 17 41256090 41256103 AAAAAAAAGAAAAG - 227570 deletion NM_007294.3(BRCA1):c.441+36_441+38delCTT 147856441 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41256101 41256103 AAG - 227570 deletion NM_007294.3(BRCA1):c.441+36_441+38delCTT 147856441 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43104084 43104086 AAG - 227571 duplication NM_007294.3(BRCA1):c.-19-22_-19-21dupAT 273898667 MedGen:C2676676,OMIM:604370 17 43124136 43124137 AT ATAT 227571 duplication NM_007294.3(BRCA1):c.-19-22_-19-21dupAT 273898667 MedGen:C2676676,OMIM:604370 17 41276153 41276154 AT ATAT 227577 single nucleotide variant NM_007294.3(BRCA1):c.81-14C>G 80358006 MedGen:C0677776,Orphanet:ORPHA145 17 43115793 43115793 G C 227577 single nucleotide variant NM_007294.3(BRCA1):c.81-14C>G 80358006 MedGen:C0677776,Orphanet:ORPHA145 17 41267810 41267810 G C 235922 single nucleotide variant NM_007294.3(BRCA1):c.5587T>G (p.Tyr1863Asp) 763740623 MedGen:C0027672,SNOMED CT:C0027672 17 41197700 41197700 A C 235922 single nucleotide variant NM_007294.3(BRCA1):c.5587T>G (p.Tyr1863Asp) 763740623 MedGen:C0027672,SNOMED CT:C0027672 17 43045683 43045683 A C 235923 single nucleotide variant NM_007294.3(BRCA1):c.5574C>T (p.Ile1858=) 876659941 MedGen:C0027672,SNOMED CT:C0027672 17 41197713 41197713 G A 235923 single nucleotide variant NM_007294.3(BRCA1):c.5574C>T (p.Ile1858=) 876659941 MedGen:C0027672,SNOMED CT:C0027672 17 43045696 43045696 G A 235924 single nucleotide variant NM_007294.3(BRCA1):c.5568C>A (p.Pro1856=) 876659994 MedGen:C0027672,SNOMED CT:C0027672 17 41197719 41197719 G T 235924 single nucleotide variant NM_007294.3(BRCA1):c.5568C>A (p.Pro1856=) 876659994 MedGen:C0027672,SNOMED CT:C0027672 17 43045702 43045702 G T 235925 single nucleotide variant NM_007294.3(BRCA1):c.5534A>G (p.Tyr1845Cys) 876660280 MedGen:C0027672,SNOMED CT:C0027672 17 41197753 41197753 T C 235925 single nucleotide variant NM_007294.3(BRCA1):c.5534A>G (p.Tyr1845Cys) 876660280 MedGen:C0027672,SNOMED CT:C0027672 17 43045736 43045736 T C 235926 single nucleotide variant NM_007294.3(BRCA1):c.5439T>C (p.Asp1813=) 760396669 MedGen:C0027672,SNOMED CT:C0027672 17 41199688 41199688 A G 235926 single nucleotide variant NM_007294.3(BRCA1):c.5439T>C (p.Asp1813=) 760396669 MedGen:C0027672,SNOMED CT:C0027672 17 43047671 43047671 A G 235927 single nucleotide variant NM_007294.3(BRCA1):c.5407G>A (p.Gly1803Ser) 876659510 MedGen:C0027672,SNOMED CT:C0027672 17 41199720 41199720 C T 235927 single nucleotide variant NM_007294.3(BRCA1):c.5407G>A (p.Gly1803Ser) 876659510 MedGen:C0027672,SNOMED CT:C0027672 17 43047703 43047703 C T 235928 single nucleotide variant NM_007294.3(BRCA1):c.5407-4C>G 876660347 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41199724 41199724 G C 235928 single nucleotide variant NM_007294.3(BRCA1):c.5407-4C>G 876660347 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43047707 43047707 G C 235929 single nucleotide variant NM_007294.3(BRCA1):c.5371G>A (p.Val1791Met) 145758886 MedGen:C0027672,SNOMED CT:C0027672 17 41201173 41201173 C T 235929 single nucleotide variant NM_007294.3(BRCA1):c.5371G>A (p.Val1791Met) 145758886 MedGen:C0027672,SNOMED CT:C0027672 17 43049156 43049156 C T 235930 single nucleotide variant NM_007294.3(BRCA1):c.5354A>C (p.Gln1785Pro) 876660057 MedGen:C0027672,SNOMED CT:C0027672 17 41201190 41201190 T G 235930 single nucleotide variant NM_007294.3(BRCA1):c.5354A>C (p.Gln1785Pro) 876660057 MedGen:C0027672,SNOMED CT:C0027672 17 43049173 43049173 T G 235931 single nucleotide variant NM_007294.3(BRCA1):c.5337A>G (p.Gln1779=) 876659718 MedGen:C0027672,SNOMED CT:C0027672 17 41201207 41201207 T C 235931 single nucleotide variant NM_007294.3(BRCA1):c.5337A>G (p.Gln1779=) 876659718 MedGen:C0027672,SNOMED CT:C0027672 17 43049190 43049190 T C 235932 deletion NM_007294.3(BRCA1):c.5328delC (p.Thr1777Glnfs) 876660010 MedGen:C0027672,SNOMED CT:C0027672 17 41203084 41203084 G - 235932 deletion NM_007294.3(BRCA1):c.5328delC (p.Thr1777Glnfs) 876660010 MedGen:C0027672,SNOMED CT:C0027672 17 43051067 43051067 G - 235933 single nucleotide variant NM_007294.3(BRCA1):c.5287G>C (p.Gly1763Arg) 876660907 MedGen:C0027672,SNOMED CT:C0027672 17 41203125 41203125 C G 235933 single nucleotide variant NM_007294.3(BRCA1):c.5287G>C (p.Gly1763Arg) 876660907 MedGen:C0027672,SNOMED CT:C0027672 17 43051108 43051108 C G 235934 single nucleotide variant NM_007294.3(BRCA1):c.5277G>T (p.Lys1759Asn) 80356854 MedGen:C0027672,SNOMED CT:C0027672 17 41209069 41209069 C A 235934 single nucleotide variant NM_007294.3(BRCA1):c.5277G>T (p.Lys1759Asn) 80356854 MedGen:C0027672,SNOMED CT:C0027672 17 43057052 43057052 C A 235935 single nucleotide variant NM_007294.3(BRCA1):c.5274A>G (p.Arg1758=) 758739620 MedGen:C0027672,SNOMED CT:C0027672 17 41209072 41209072 T C 235935 single nucleotide variant NM_007294.3(BRCA1):c.5274A>G (p.Arg1758=) 758739620 MedGen:C0027672,SNOMED CT:C0027672 17 43057055 43057055 T C 235936 single nucleotide variant NM_007294.3(BRCA1):c.5245C>A (p.Pro1749Thr) 397509244 MedGen:C0027672,SNOMED CT:C0027672 17 41209101 41209101 G T 235936 single nucleotide variant NM_007294.3(BRCA1):c.5245C>A (p.Pro1749Thr) 397509244 MedGen:C0027672,SNOMED CT:C0027672 17 43057084 43057084 G T 235937 single nucleotide variant NM_007294.3(BRCA1):c.5237A>C (p.His1746Pro) 876659991 MedGen:C0027672,SNOMED CT:C0027672 17 41209109 41209109 T G 235937 single nucleotide variant NM_007294.3(BRCA1):c.5237A>C (p.His1746Pro) 876659991 MedGen:C0027672,SNOMED CT:C0027672 17 43057092 43057092 T G 235938 deletion NM_007294.3(BRCA1):c.5236delC (p.His1746Thrfs) 876659483 MedGen:C0027672,SNOMED CT:C0027672 17 41209110 41209110 G - 235938 deletion NM_007294.3(BRCA1):c.5236delC (p.His1746Thrfs) 876659483 MedGen:C0027672,SNOMED CT:C0027672 17 43057093 43057093 G - 235939 single nucleotide variant NM_007294.3(BRCA1):c.5221G>A (p.Val1741Ile) 876659122 MedGen:C0027672,SNOMED CT:C0027672 17 41209125 41209125 C T 235939 single nucleotide variant NM_007294.3(BRCA1):c.5221G>A (p.Val1741Ile) 876659122 MedGen:C0027672,SNOMED CT:C0027672 17 43057108 43057108 C T 235940 deletion NM_007294.3(BRCA1):c.5202delT (p.Phe1734Leufs) 876659867 MedGen:C0027672,SNOMED CT:C0027672 17 41209144 41209144 A - 235940 deletion NM_007294.3(BRCA1):c.5202delT (p.Phe1734Leufs) 876659867 MedGen:C0027672,SNOMED CT:C0027672 17 43057127 43057127 A - 235941 single nucleotide variant NM_007294.3(BRCA1):c.5200T>A (p.Phe1734Ile) 80356957 MedGen:C0027672,SNOMED CT:C0027672 17 41209146 41209146 A T 235941 single nucleotide variant NM_007294.3(BRCA1):c.5200T>A (p.Phe1734Ile) 80356957 MedGen:C0027672,SNOMED CT:C0027672 17 43057129 43057129 A T 235942 single nucleotide variant NM_007294.3(BRCA1):c.5193G>A (p.Glu1731=) 876660702 MedGen:C0027672,SNOMED CT:C0027672 17 41215350 41215350 C T 235942 single nucleotide variant NM_007294.3(BRCA1):c.5193G>A (p.Glu1731=) 876660702 MedGen:C0027672,SNOMED CT:C0027672 17 43063333 43063333 C T 235943 deletion NM_007294.3(BRCA1):c.5176delA (p.Arg1726Glufs) 876658478 MedGen:C0027672,SNOMED CT:C0027672 17 41215367 41215367 T - 235943 deletion NM_007294.3(BRCA1):c.5176delA (p.Arg1726Glufs) 876658478 MedGen:C0027672,SNOMED CT:C0027672 17 43063350 43063350 T - 235944 single nucleotide variant NM_007294.3(BRCA1):c.5135G>A (p.Trp1712Ter) 876658672 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41215908 41215908 C T 235944 single nucleotide variant NM_007294.3(BRCA1):c.5135G>A (p.Trp1712Ter) 876658672 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43063891 43063891 C T 235945 single nucleotide variant NM_007294.3(BRCA1):c.5108A>G (p.Tyr1703Cys) 876660071 MedGen:C0027672,SNOMED CT:C0027672 17 41215935 41215935 T C 235945 single nucleotide variant NM_007294.3(BRCA1):c.5108A>G (p.Tyr1703Cys) 876660071 MedGen:C0027672,SNOMED CT:C0027672 17 43063918 43063918 T C 235946 single nucleotide variant NM_007294.3(BRCA1):c.5041A>C (p.Thr1681Pro) 876659314 MedGen:C0027672,SNOMED CT:C0027672 17 41219658 41219658 T G 235946 single nucleotide variant NM_007294.3(BRCA1):c.5041A>C (p.Thr1681Pro) 876659314 MedGen:C0027672,SNOMED CT:C0027672 17 43067641 43067641 T G 235947 single nucleotide variant NM_007294.3(BRCA1):c.5030C>T (p.Thr1677Ile) 876660263 MedGen:C0027672,SNOMED CT:C0027672 17 41219669 41219669 G A 235947 single nucleotide variant NM_007294.3(BRCA1):c.5030C>T (p.Thr1677Ile) 876660263 MedGen:C0027672,SNOMED CT:C0027672 17 43067652 43067652 G A 235948 single nucleotide variant NM_007294.3(BRCA1):c.5025T>C (p.Thr1675=) 876658226 MedGen:C0027672,SNOMED CT:C0027672 17 41219674 41219674 A G 235948 single nucleotide variant NM_007294.3(BRCA1):c.5025T>C (p.Thr1675=) 876658226 MedGen:C0027672,SNOMED CT:C0027672 17 43067657 43067657 A G 235949 duplication NM_007294.3(BRCA1):c.4997dupA (p.Tyr1666Terfs) 876658947 MedGen:C0027672,SNOMED CT:C0027672 17 41219702 41219702 T TT 235949 duplication NM_007294.3(BRCA1):c.4997dupA (p.Tyr1666Terfs) 876658947 MedGen:C0027672,SNOMED CT:C0027672 17 43067685 43067685 T TT 235950 single nucleotide variant NM_007294.3(BRCA1):c.4946G>C (p.Arg1649Thr) 876660509 MedGen:C0027672,SNOMED CT:C0027672 17 41222985 41222985 C G 235950 single nucleotide variant NM_007294.3(BRCA1):c.4946G>C (p.Arg1649Thr) 876660509 MedGen:C0027672,SNOMED CT:C0027672 17 43070968 43070968 C G 235951 single nucleotide variant NM_007294.3(BRCA1):c.4923T>G (p.Ala1641=) 876658258 MedGen:C0027672,SNOMED CT:C0027672 17 41223008 41223008 A C 235951 single nucleotide variant NM_007294.3(BRCA1):c.4923T>G (p.Ala1641=) 876658258 MedGen:C0027672,SNOMED CT:C0027672 17 43070991 43070991 A C 235952 single nucleotide variant NM_007294.3(BRCA1):c.4909C>T (p.Pro1637Ser) 876659989 MedGen:C0027672,SNOMED CT:C0027672 17 41223022 41223022 G A 235952 single nucleotide variant NM_007294.3(BRCA1):c.4909C>T (p.Pro1637Ser) 876659989 MedGen:C0027672,SNOMED CT:C0027672 17 43071005 43071005 G A 235953 single nucleotide variant NM_007294.3(BRCA1):c.4856C>T (p.Thr1619Ile) 876659163 MedGen:C0027672,SNOMED CT:C0027672 17 41223075 41223075 G A 235953 single nucleotide variant NM_007294.3(BRCA1):c.4856C>T (p.Thr1619Ile) 876659163 MedGen:C0027672,SNOMED CT:C0027672 17 43071058 43071058 G A 235954 single nucleotide variant NM_007294.3(BRCA1):c.4782A>G (p.Pro1594=) 876659455 MedGen:C0027672,SNOMED CT:C0027672 17 41223149 41223149 T C 235954 single nucleotide variant NM_007294.3(BRCA1):c.4782A>G (p.Pro1594=) 876659455 MedGen:C0027672,SNOMED CT:C0027672 17 43071132 43071132 T C 235955 single nucleotide variant NM_007294.3(BRCA1):c.4764T>A (p.Ala1588=) 753651115 MedGen:C0027672,SNOMED CT:C0027672 17 41223167 41223167 A T 235955 single nucleotide variant NM_007294.3(BRCA1):c.4764T>A (p.Ala1588=) 753651115 MedGen:C0027672,SNOMED CT:C0027672 17 43071150 43071150 A T 235956 single nucleotide variant NM_007294.3(BRCA1):c.4748G>A (p.Arg1583Lys) 752624544 MedGen:C0027672,SNOMED CT:C0027672 17 41223183 41223183 C T 235956 single nucleotide variant NM_007294.3(BRCA1):c.4748G>A (p.Arg1583Lys) 752624544 MedGen:C0027672,SNOMED CT:C0027672 17 43071166 43071166 C T 235957 single nucleotide variant NM_007294.3(BRCA1):c.4727A>G (p.Glu1576Gly) 876659007 MedGen:C0027672,SNOMED CT:C0027672 17 41223204 41223204 T C 235957 single nucleotide variant NM_007294.3(BRCA1):c.4727A>G (p.Glu1576Gly) 876659007 MedGen:C0027672,SNOMED CT:C0027672 17 43071187 43071187 T C 235958 single nucleotide variant NM_007294.3(BRCA1):c.4683C>T (p.Thr1561=) 878853265 MedGen:C0027672,SNOMED CT:C0027672 17 41223248 41223248 G A 235958 single nucleotide variant NM_007294.3(BRCA1):c.4683C>T (p.Thr1561=) 878853265 MedGen:C0027672,SNOMED CT:C0027672 17 43071231 43071231 G A 235959 deletion NM_007294.3(BRCA1):c.4654_4673del20 (p.Tyr1552Argfs) 876659293 MedGen:C0027672,SNOMED CT:C0027672 17 41226350 41226369 na na 235959 deletion NM_007294.3(BRCA1):c.4654_4673del20 (p.Tyr1552Argfs) 876659293 MedGen:C0027672,SNOMED CT:C0027672 17 43074333 43074352 na na 235960 single nucleotide variant NM_007294.3(BRCA1):c.4650A>G (p.Thr1550=) 876658608 MedGen:C0027672,SNOMED CT:C0027672 17 41226373 41226373 T C 235960 single nucleotide variant NM_007294.3(BRCA1):c.4650A>G (p.Thr1550=) 876658608 MedGen:C0027672,SNOMED CT:C0027672 17 43074356 43074356 T C 235961 single nucleotide variant NM_007294.3(BRCA1):c.4646A>T (p.Glu1549Val) 876659001 MedGen:C0027672,SNOMED CT:C0027672 17 41226377 41226377 T A 235961 single nucleotide variant NM_007294.3(BRCA1):c.4646A>T (p.Glu1549Val) 876659001 MedGen:C0027672,SNOMED CT:C0027672 17 43074360 43074360 T A 235962 single nucleotide variant NM_007294.3(BRCA1):c.4606G>C (p.Glu1536Gln) 876660460 MedGen:C0027672,SNOMED CT:C0027672 17 41226417 41226417 C G 235962 single nucleotide variant NM_007294.3(BRCA1):c.4606G>C (p.Glu1536Gln) 876660460 MedGen:C0027672,SNOMED CT:C0027672 17 43074400 43074400 C G 235963 single nucleotide variant NM_007294.3(BRCA1):c.4603G>A (p.Glu1535Lys) 80357366 MedGen:C0027672,SNOMED CT:C0027672 17 41226420 41226420 C T 235963 single nucleotide variant NM_007294.3(BRCA1):c.4603G>A (p.Glu1535Lys) 80357366 MedGen:C0027672,SNOMED CT:C0027672 17 43074403 43074403 C T 235964 single nucleotide variant NM_007294.3(BRCA1):c.4557T>C (p.Asn1519=) 876659243 MedGen:C0027672,SNOMED CT:C0027672 17 41226466 41226466 A G 235964 single nucleotide variant NM_007294.3(BRCA1):c.4557T>C (p.Asn1519=) 876659243 MedGen:C0027672,SNOMED CT:C0027672 17 43074449 43074449 A G 235965 single nucleotide variant NM_007294.3(BRCA1):c.4552C>A (p.Gln1518Lys) 80356881 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41226471 41226471 G T 235965 single nucleotide variant NM_007294.3(BRCA1):c.4552C>A (p.Gln1518Lys) 80356881 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43074454 43074454 G T 235966 single nucleotide variant NM_007294.3(BRCA1):c.4432G>T (p.Glu1478Ter) 876659878 MedGen:C0027672,SNOMED CT:C0027672 17 41228557 41228557 C A 235966 single nucleotide variant NM_007294.3(BRCA1):c.4432G>T (p.Glu1478Ter) 876659878 MedGen:C0027672,SNOMED CT:C0027672 17 43076540 43076540 C A 235967 single nucleotide variant NM_007294.3(BRCA1):c.4430T>C (p.Phe1477Ser) 876660550 MedGen:C0027672,SNOMED CT:C0027672 17 41228559 41228559 A G 235967 single nucleotide variant NM_007294.3(BRCA1):c.4430T>C (p.Phe1477Ser) 876660550 MedGen:C0027672,SNOMED CT:C0027672 17 43076542 43076542 A G 235968 single nucleotide variant NM_007294.3(BRCA1):c.4423G>T (p.Asp1475Tyr) 876660940 MedGen:C0027672,SNOMED CT:C0027672 17 41228566 41228566 C A 235968 single nucleotide variant NM_007294.3(BRCA1):c.4423G>T (p.Asp1475Tyr) 876660940 MedGen:C0027672,SNOMED CT:C0027672 17 43076549 43076549 C A 235969 indel NM_007294.3(BRCA1):c.4400_4418del19insTTT (p.Gln1467Leufs) 876659310 MedGen:C0027672,SNOMED CT:C0027672 17 41228571 41228589 na AAA 235969 indel NM_007294.3(BRCA1):c.4400_4418del19insTTT (p.Gln1467Leufs) 876659310 MedGen:C0027672,SNOMED CT:C0027672 17 43076554 43076572 na AAA 235970 single nucleotide variant NM_007294.3(BRCA1):c.4358-1G>A 876658790 MedGen:C0027672,SNOMED CT:C0027672 17 41228632 41228632 C T 235970 single nucleotide variant NM_007294.3(BRCA1):c.4358-1G>A 876658790 MedGen:C0027672,SNOMED CT:C0027672 17 43076615 43076615 C T 235971 single nucleotide variant NM_007294.3(BRCA1):c.4333C>A (p.Pro1445Thr) 876660684 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41234445 41234445 G T 235971 single nucleotide variant NM_007294.3(BRCA1):c.4333C>A (p.Pro1445Thr) 876660684 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43082428 43082428 G T 235972 single nucleotide variant NM_007294.3(BRCA1):c.4304A>G (p.Asp1435Gly) 876660809 MedGen:C0027672,SNOMED CT:C0027672 17 43082457 43082457 T C 235972 single nucleotide variant NM_007294.3(BRCA1):c.4304A>G (p.Asp1435Gly) 876660809 MedGen:C0027672,SNOMED CT:C0027672 17 41234474 41234474 T C 235973 single nucleotide variant NM_007294.3(BRCA1):c.4286A>G (p.Tyr1429Cys) 876659228 MedGen:C0027672,SNOMED CT:C0027672 17 41234492 41234492 T C 235973 single nucleotide variant NM_007294.3(BRCA1):c.4286A>G (p.Tyr1429Cys) 876659228 MedGen:C0027672,SNOMED CT:C0027672 17 43082475 43082475 T C 235974 single nucleotide variant NM_007294.3(BRCA1):c.4268G>T (p.Ser1423Ile) 876660129 MedGen:C0027672,SNOMED CT:C0027672 17 41234510 41234510 C A 235974 single nucleotide variant NM_007294.3(BRCA1):c.4268G>T (p.Ser1423Ile) 876660129 MedGen:C0027672,SNOMED CT:C0027672 17 43082493 43082493 C A 235975 single nucleotide variant NM_007294.3(BRCA1):c.4258C>G (p.Gln1420Glu) 80357305 MedGen:C0027672,SNOMED CT:C0027672 17 41234520 41234520 G C 235975 single nucleotide variant NM_007294.3(BRCA1):c.4258C>G (p.Gln1420Glu) 80357305 MedGen:C0027672,SNOMED CT:C0027672 17 43082503 43082503 G C 235976 single nucleotide variant NM_007294.3(BRCA1):c.4197C>G (p.Thr1399=) 876659552 MedGen:C0027672,SNOMED CT:C0027672 17 41234581 41234581 G C 235976 single nucleotide variant NM_007294.3(BRCA1):c.4197C>G (p.Thr1399=) 876659552 MedGen:C0027672,SNOMED CT:C0027672 17 43082564 43082564 G C 235977 single nucleotide variant NM_007294.3(BRCA1):c.4196C>G (p.Thr1399Ser) 876658465 MedGen:C0027672,SNOMED CT:C0027672 17 41234582 41234582 G C 235977 single nucleotide variant NM_007294.3(BRCA1):c.4196C>G (p.Thr1399Ser) 876658465 MedGen:C0027672,SNOMED CT:C0027672 17 43082565 43082565 G C 235978 single nucleotide variant NM_007294.3(BRCA1):c.4192G>T (p.Asp1398Tyr) 876660331 MedGen:C0027672,SNOMED CT:C0027672 17 41234586 41234586 C A 235978 single nucleotide variant NM_007294.3(BRCA1):c.4192G>T (p.Asp1398Tyr) 876660331 MedGen:C0027672,SNOMED CT:C0027672 17 43082569 43082569 C A 235979 single nucleotide variant NM_007294.3(BRCA1):c.4185G>C (p.Gln1395His) 80356857 MedGen:C0027672,SNOMED CT:C0027672 17 41242961 41242961 C G 235979 single nucleotide variant NM_007294.3(BRCA1):c.4185G>C (p.Gln1395His) 80356857 MedGen:C0027672,SNOMED CT:C0027672 17 43090944 43090944 C G 235980 single nucleotide variant NM_007294.3(BRCA1):c.4179C>T (p.Thr1393=) 753735698 MedGen:C0027672,SNOMED CT:C0027672 17 41242967 41242967 G A 235980 single nucleotide variant NM_007294.3(BRCA1):c.4179C>T (p.Thr1393=) 753735698 MedGen:C0027672,SNOMED CT:C0027672 17 43090950 43090950 G A 235981 single nucleotide variant NM_007294.3(BRCA1):c.4162C>T (p.Gln1388Ter) 876660601 MedGen:C0027672,SNOMED CT:C0027672 17 41242984 41242984 G A 235981 single nucleotide variant NM_007294.3(BRCA1):c.4162C>T (p.Gln1388Ter) 876660601 MedGen:C0027672,SNOMED CT:C0027672 17 43090967 43090967 G A 235982 single nucleotide variant NM_007294.3(BRCA1):c.4097G>A (p.Gly1366Asp) 876660948 MedGen:C0027672,SNOMED CT:C0027672 17 41243049 41243049 C T 235982 single nucleotide variant NM_007294.3(BRCA1):c.4097G>A (p.Gly1366Asp) 876660948 MedGen:C0027672,SNOMED CT:C0027672 17 43091032 43091032 C T 235983 single nucleotide variant NM_007294.3(BRCA1):c.4063A>G (p.Asn1355Asp) 876660530 MedGen:C0027672,SNOMED CT:C0027672 17 41243485 41243485 T C 235983 single nucleotide variant NM_007294.3(BRCA1):c.4063A>G (p.Asn1355Asp) 876660530 MedGen:C0027672,SNOMED CT:C0027672 17 43091468 43091468 T C 235984 single nucleotide variant NM_007294.3(BRCA1):c.4048G>T (p.Gly1350Cys) 748674194 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41243500 41243500 C A 235984 single nucleotide variant NM_007294.3(BRCA1):c.4048G>T (p.Gly1350Cys) 748674194 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43091483 43091483 C A 235985 single nucleotide variant NM_007294.3(BRCA1):c.3990C>T (p.Ser1330=) 876660808 MedGen:C0027672,SNOMED CT:C0027672 17 41243558 41243558 G A 235985 single nucleotide variant NM_007294.3(BRCA1):c.3990C>T (p.Ser1330=) 876660808 MedGen:C0027672,SNOMED CT:C0027672 17 43091541 43091541 G A 235986 single nucleotide variant NM_007294.3(BRCA1):c.3985G>A (p.Glu1329Lys) 876659467 MedGen:C0027672,SNOMED CT:C0027672 17 41243563 41243563 C T 235986 single nucleotide variant NM_007294.3(BRCA1):c.3985G>A (p.Glu1329Lys) 876659467 MedGen:C0027672,SNOMED CT:C0027672 17 43091546 43091546 C T 235987 single nucleotide variant NM_007294.3(BRCA1):c.3979C>T (p.Gln1327Ter) 876659720 MedGen:C0027672,SNOMED CT:C0027672 17 41243569 41243569 G A 235987 single nucleotide variant NM_007294.3(BRCA1):c.3979C>T (p.Gln1327Ter) 876659720 MedGen:C0027672,SNOMED CT:C0027672 17 43091552 43091552 G A 235988 single nucleotide variant NM_007294.3(BRCA1):c.3969A>T (p.Gln1323His) 876660410 MedGen:C0027672,SNOMED CT:C0027672 17 41243579 41243579 T A 235988 single nucleotide variant NM_007294.3(BRCA1):c.3969A>T (p.Gln1323His) 876660410 MedGen:C0027672,SNOMED CT:C0027672 17 43091562 43091562 T A 235989 single nucleotide variant NM_007294.3(BRCA1):c.3964A>G (p.Lys1322Glu) 80357343 MedGen:C0027672,SNOMED CT:C0027672 17 41243584 41243584 T C 235989 single nucleotide variant NM_007294.3(BRCA1):c.3964A>G (p.Lys1322Glu) 80357343 MedGen:C0027672,SNOMED CT:C0027672 17 43091567 43091567 T C 235990 single nucleotide variant NM_007294.3(BRCA1):c.3964A>C (p.Lys1322Gln) 80357343 MedGen:C0027672,SNOMED CT:C0027672 17 41243584 41243584 T G 235990 single nucleotide variant NM_007294.3(BRCA1):c.3964A>C (p.Lys1322Gln) 80357343 MedGen:C0027672,SNOMED CT:C0027672 17 43091567 43091567 T G 235991 duplication NM_007294.3(BRCA1):c.3931_3934dupAACA (p.Thr1312Lysfs) 876659865 MedGen:C0027672,SNOMED CT:C0027672 17 41243614 41243617 TGTT TGTTTGTT 235991 duplication NM_007294.3(BRCA1):c.3931_3934dupAACA (p.Thr1312Lysfs) 876659865 MedGen:C0027672,SNOMED CT:C0027672 17 43091597 43091600 TGTT TGTTTGTT 235992 single nucleotide variant NM_007294.3(BRCA1):c.3904G>A (p.Glu1302Lys) 80357461 MedGen:C0027672,SNOMED CT:C0027672 17 41243644 41243644 C T 235992 single nucleotide variant NM_007294.3(BRCA1):c.3904G>A (p.Glu1302Lys) 80357461 MedGen:C0027672,SNOMED CT:C0027672 17 43091627 43091627 C T 235993 single nucleotide variant NM_007294.3(BRCA1):c.3896A>G (p.Gln1299Arg) 876660866 MedGen:C0027672,SNOMED CT:C0027672 17 41243652 41243652 T C 235993 single nucleotide variant NM_007294.3(BRCA1):c.3896A>G (p.Gln1299Arg) 876660866 MedGen:C0027672,SNOMED CT:C0027672 17 43091635 43091635 T C 235994 single nucleotide variant NM_007294.3(BRCA1):c.3875C>A (p.Ser1292Tyr) 876658340 MedGen:C0027672,SNOMED CT:C0027672 17 41243673 41243673 G T 235994 single nucleotide variant NM_007294.3(BRCA1):c.3875C>A (p.Ser1292Tyr) 876658340 MedGen:C0027672,SNOMED CT:C0027672 17 43091656 43091656 G T 235995 single nucleotide variant NM_007294.3(BRCA1):c.3862G>C (p.Glu1288Gln) 876659708 MedGen:C0027672,SNOMED CT:C0027672 17 41243686 41243686 C G 235995 single nucleotide variant NM_007294.3(BRCA1):c.3862G>C (p.Glu1288Gln) 876659708 MedGen:C0027672,SNOMED CT:C0027672 17 43091669 43091669 C G 235996 single nucleotide variant NM_007294.3(BRCA1):c.3834G>A (p.Lys1278=) 876660942 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41243714 41243714 C T 235996 single nucleotide variant NM_007294.3(BRCA1):c.3834G>A (p.Lys1278=) 876660942 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43091697 43091697 C T 235997 single nucleotide variant NM_007294.3(BRCA1):c.3826T>C (p.Leu1276=) 876659178 MedGen:C0027672,SNOMED CT:C0027672 17 41243722 41243722 A G 235997 single nucleotide variant NM_007294.3(BRCA1):c.3826T>C (p.Leu1276=) 876659178 MedGen:C0027672,SNOMED CT:C0027672 17 43091705 43091705 A G 235998 single nucleotide variant NM_007294.3(BRCA1):c.3815A>G (p.Asn1272Ser) 772703445 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41243733 41243733 T C 235998 single nucleotide variant NM_007294.3(BRCA1):c.3815A>G (p.Asn1272Ser) 772703445 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43091716 43091716 T C 235999 single nucleotide variant NM_007294.3(BRCA1):c.3798C>A (p.Ser1266Arg) 200648498 MedGen:C0027672,SNOMED CT:C0027672 17 41243750 41243750 G T 236083 deletion NM_007294.3(BRCA1):c.2289delT (p.Val764Terfs) 876658791 MedGen:C0027672,SNOMED CT:C0027672 17 41245259 41245259 A - 235999 single nucleotide variant NM_007294.3(BRCA1):c.3798C>A (p.Ser1266Arg) 200648498 MedGen:C0027672,SNOMED CT:C0027672 17 43091733 43091733 G T 236000 single nucleotide variant NM_007294.3(BRCA1):c.3750G>A (p.Glu1250=) 145903082 MedGen:C0027672,SNOMED CT:C0027672 17 41243798 41243798 C T 236000 single nucleotide variant NM_007294.3(BRCA1):c.3750G>A (p.Glu1250=) 145903082 MedGen:C0027672,SNOMED CT:C0027672 17 43091781 43091781 C T 236001 single nucleotide variant NM_007294.3(BRCA1):c.3720G>A (p.Gln1240=) 876658341 MedGen:C0027672,SNOMED CT:C0027672 17 41243828 41243828 C T 236001 single nucleotide variant NM_007294.3(BRCA1):c.3720G>A (p.Gln1240=) 876658341 MedGen:C0027672,SNOMED CT:C0027672 17 43091811 43091811 C T 236002 single nucleotide variant NM_007294.3(BRCA1):c.3712C>T (p.Pro1238Ser) 876659772 MedGen:C0027672,SNOMED CT:C0027672 17 41243836 41243836 G A 236002 single nucleotide variant NM_007294.3(BRCA1):c.3712C>T (p.Pro1238Ser) 876659772 MedGen:C0027672,SNOMED CT:C0027672 17 43091819 43091819 G A 236003 single nucleotide variant NM_007294.3(BRCA1):c.3710T>C (p.Ile1237Thr) 876660883 MedGen:C0027672,SNOMED CT:C0027672 17 41243838 41243838 A G 236003 single nucleotide variant NM_007294.3(BRCA1):c.3710T>C (p.Ile1237Thr) 876660883 MedGen:C0027672,SNOMED CT:C0027672 17 43091821 43091821 A G 236004 single nucleotide variant NM_007294.3(BRCA1):c.3659A>T (p.Asp1220Val) 766572561 MedGen:C0027672,SNOMED CT:C0027672 17 41243889 41243889 T A 236004 single nucleotide variant NM_007294.3(BRCA1):c.3659A>T (p.Asp1220Val) 766572561 MedGen:C0027672,SNOMED CT:C0027672 17 43091872 43091872 T A 236005 single nucleotide variant NM_007294.3(BRCA1):c.3636A>T (p.Ser1212=) 148038877 MedGen:C0027672,SNOMED CT:C0027672 17 41243912 41243912 T A 236005 single nucleotide variant NM_007294.3(BRCA1):c.3636A>T (p.Ser1212=) 148038877 MedGen:C0027672,SNOMED CT:C0027672 17 43091895 43091895 T A 236006 single nucleotide variant NM_007294.3(BRCA1):c.3612A>G (p.Arg1204=) 537737635 MedGen:C0027672,SNOMED CT:C0027672 17 41243936 41243936 T C 236006 single nucleotide variant NM_007294.3(BRCA1):c.3612A>G (p.Arg1204=) 537737635 MedGen:C0027672,SNOMED CT:C0027672 17 43091919 43091919 T C 236007 single nucleotide variant NM_007294.3(BRCA1):c.3588A>G (p.Thr1196=) 876658595 MedGen:C0027672,SNOMED CT:C0027672 17 41243960 41243960 T C 236007 single nucleotide variant NM_007294.3(BRCA1):c.3588A>G (p.Thr1196=) 876658595 MedGen:C0027672,SNOMED CT:C0027672 17 43091943 43091943 T C 236008 single nucleotide variant NM_007294.3(BRCA1):c.3583C>T (p.His1195Tyr) 876659903 MedGen:C0027672,SNOMED CT:C0027672 17 41243965 41243965 G A 236008 single nucleotide variant NM_007294.3(BRCA1):c.3583C>T (p.His1195Tyr) 876659903 MedGen:C0027672,SNOMED CT:C0027672 17 43091948 43091948 G A 236009 single nucleotide variant NM_007294.3(BRCA1):c.3569C>T (p.Pro1190Leu) 755209182 MedGen:C0027672,SNOMED CT:C0027672 17 41243979 41243979 G A 236009 single nucleotide variant NM_007294.3(BRCA1):c.3569C>T (p.Pro1190Leu) 755209182 MedGen:C0027672,SNOMED CT:C0027672 17 43091962 43091962 G A 236010 single nucleotide variant NM_007294.3(BRCA1):c.3505G>T (p.Asp1169Tyr) 876659269 MedGen:C0027672,SNOMED CT:C0027672 17 41244043 41244043 C A 236010 single nucleotide variant NM_007294.3(BRCA1):c.3505G>T (p.Asp1169Tyr) 876659269 MedGen:C0027672,SNOMED CT:C0027672 17 43092026 43092026 C A 236011 single nucleotide variant NM_007294.3(BRCA1):c.3475A>G (p.Ile1159Val) 876658318 MedGen:C0027672,SNOMED CT:C0027672 17 41244073 41244073 T C 236011 single nucleotide variant NM_007294.3(BRCA1):c.3475A>G (p.Ile1159Val) 876658318 MedGen:C0027672,SNOMED CT:C0027672 17 43092056 43092056 T C 236012 single nucleotide variant NM_007294.3(BRCA1):c.3470G>C (p.Gly1157Ala) 876659133 MedGen:C0027672,SNOMED CT:C0027672 17 41244078 41244078 C G 236012 single nucleotide variant NM_007294.3(BRCA1):c.3470G>C (p.Gly1157Ala) 876659133 MedGen:C0027672,SNOMED CT:C0027672 17 43092061 43092061 C G 236013 single nucleotide variant NM_007294.3(BRCA1):c.3462A>G (p.Leu1154=) 876659048 MedGen:C0027672,SNOMED CT:C0027672 17 41244086 41244086 T C 236013 single nucleotide variant NM_007294.3(BRCA1):c.3462A>G (p.Leu1154=) 876659048 MedGen:C0027672,SNOMED CT:C0027672 17 43092069 43092069 T C 236014 single nucleotide variant NM_007294.3(BRCA1):c.3440C>A (p.Ser1147Tyr) 876660757 MedGen:C0027672,SNOMED CT:C0027672 17 41244108 41244108 G T 236014 single nucleotide variant NM_007294.3(BRCA1):c.3440C>A (p.Ser1147Tyr) 876660757 MedGen:C0027672,SNOMED CT:C0027672 17 43092091 43092091 G T 236015 single nucleotide variant NM_007294.3(BRCA1):c.3401A>T (p.Glu1134Val) 762744684 MedGen:C0027672,SNOMED CT:C0027672 17 41244147 41244147 T A 236015 single nucleotide variant NM_007294.3(BRCA1):c.3401A>T (p.Glu1134Val) 762744684 MedGen:C0027672,SNOMED CT:C0027672 17 43092130 43092130 T A 236016 single nucleotide variant NM_007294.3(BRCA1):c.3398T>C (p.Leu1133Ser) 80356971 MedGen:C0027672,SNOMED CT:C0027672 17 41244150 41244150 A G 236016 single nucleotide variant NM_007294.3(BRCA1):c.3398T>C (p.Leu1133Ser) 80356971 MedGen:C0027672,SNOMED CT:C0027672 17 43092133 43092133 A G 236017 single nucleotide variant NM_007294.3(BRCA1):c.3361A>C (p.Asn1121His) 876660526 MedGen:C0027672,SNOMED CT:C0027672 17 41244187 41244187 T G 236017 single nucleotide variant NM_007294.3(BRCA1):c.3361A>C (p.Asn1121His) 876660526 MedGen:C0027672,SNOMED CT:C0027672 17 43092170 43092170 T G 236018 single nucleotide variant NM_007294.3(BRCA1):c.3345A>C (p.Glu1115Asp) 876658243 MedGen:C0027672,SNOMED CT:C0027672 17 41244203 41244203 T G 236018 single nucleotide variant NM_007294.3(BRCA1):c.3345A>C (p.Glu1115Asp) 876658243 MedGen:C0027672,SNOMED CT:C0027672 17 43092186 43092186 T G 236019 single nucleotide variant NM_007294.3(BRCA1):c.3312G>A (p.Lys1104=) 876659024 MedGen:C0027672,SNOMED CT:C0027672 17 41244236 41244236 C T 236019 single nucleotide variant NM_007294.3(BRCA1):c.3312G>A (p.Lys1104=) 876659024 MedGen:C0027672,SNOMED CT:C0027672 17 43092219 43092219 C T 236020 single nucleotide variant NM_007294.3(BRCA1):c.3306T>C (p.Asn1102=) 876658664 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41244242 41244242 A G 236020 single nucleotide variant NM_007294.3(BRCA1):c.3306T>C (p.Asn1102=) 876658664 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43092225 43092225 A G 236021 deletion NM_007294.3(BRCA1):c.3294delT (p.Pro1099Leufs) 876658626 MedGen:C0027672,SNOMED CT:C0027672 17 41244254 41244254 A - 236021 deletion NM_007294.3(BRCA1):c.3294delT (p.Pro1099Leufs) 876658626 MedGen:C0027672,SNOMED CT:C0027672 17 43092237 43092237 A - 236022 duplication NM_007294.3(BRCA1):c.3289dupA (p.Ser1097Lysfs) 876660194 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41244259 41244259 T TT 236022 duplication NM_007294.3(BRCA1):c.3289dupA (p.Ser1097Lysfs) 876660194 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43092242 43092242 T TT 236023 single nucleotide variant NM_007294.3(BRCA1):c.3274G>A (p.Glu1092Lys) 876658360 MedGen:C0027672,SNOMED CT:C0027672 17 41244274 41244274 C T 236023 single nucleotide variant NM_007294.3(BRCA1):c.3274G>A (p.Glu1092Lys) 876658360 MedGen:C0027672,SNOMED CT:C0027672 17 43092257 43092257 C T 236024 single nucleotide variant NM_007294.3(BRCA1):c.3243T>C (p.Asn1081=) 876659805 MedGen:C0027672,SNOMED CT:C0027672 17 41244305 41244305 A G 236024 single nucleotide variant NM_007294.3(BRCA1):c.3243T>C (p.Asn1081=) 876659805 MedGen:C0027672,SNOMED CT:C0027672 17 43092288 43092288 A G 236025 single nucleotide variant NM_007294.3(BRCA1):c.3241A>G (p.Asn1081Asp) 876659928 MedGen:C0027672,SNOMED CT:C0027672 17 41244307 41244307 T C 236025 single nucleotide variant NM_007294.3(BRCA1):c.3241A>G (p.Asn1081Asp) 876659928 MedGen:C0027672,SNOMED CT:C0027672 17 43092290 43092290 T C 236026 single nucleotide variant NM_007294.3(BRCA1):c.3234A>G (p.Pro1078=) 876660522 MedGen:C0027672,SNOMED CT:C0027672 17 41244314 41244314 T C 236026 single nucleotide variant NM_007294.3(BRCA1):c.3234A>G (p.Pro1078=) 876660522 MedGen:C0027672,SNOMED CT:C0027672 17 43092297 43092297 T C 236027 single nucleotide variant NM_007294.3(BRCA1):c.3227G>T (p.Arg1076Ile) 80357313 MedGen:C0027672,SNOMED CT:C0027672 17 41244321 41244321 C A 236027 single nucleotide variant NM_007294.3(BRCA1):c.3227G>T (p.Arg1076Ile) 80357313 MedGen:C0027672,SNOMED CT:C0027672 17 43092304 43092304 C A 236028 single nucleotide variant NM_007294.3(BRCA1):c.3181A>G (p.Ile1061Val) 876658975 MedGen:C0027672,SNOMED CT:C0027672 17 41244367 41244367 T C 236028 single nucleotide variant NM_007294.3(BRCA1):c.3181A>G (p.Ile1061Val) 876658975 MedGen:C0027672,SNOMED CT:C0027672 17 43092350 43092350 T C 236029 deletion NM_007294.3(BRCA1):c.3139_3180del42 (p.Val1047_Glu1060del) 876660145 MedGen:C0027672,SNOMED CT:C0027672 17 41244368 41244409 na na 236029 deletion NM_007294.3(BRCA1):c.3139_3180del42 (p.Val1047_Glu1060del) 876660145 MedGen:C0027672,SNOMED CT:C0027672 17 43092351 43092392 na na 236030 single nucleotide variant NM_007294.3(BRCA1):c.3171T>C (p.Ser1057=) 746394738 MedGen:C0027672,SNOMED CT:C0027672 17 41244377 41244377 A G 236030 single nucleotide variant NM_007294.3(BRCA1):c.3171T>C (p.Ser1057=) 746394738 MedGen:C0027672,SNOMED CT:C0027672 17 43092360 43092360 A G 236031 single nucleotide variant NM_007294.3(BRCA1):c.3169A>C (p.Ser1057Arg) 80357479 MedGen:C0027672,SNOMED CT:C0027672 17 41244379 41244379 T G 236031 single nucleotide variant NM_007294.3(BRCA1):c.3169A>C (p.Ser1057Arg) 80357479 MedGen:C0027672,SNOMED CT:C0027672 17 43092362 43092362 T G 236032 single nucleotide variant NM_007294.3(BRCA1):c.3167C>T (p.Ser1056Phe) 587781588 MedGen:C0027672,SNOMED CT:C0027672 17 41244381 41244381 G A 236032 single nucleotide variant NM_007294.3(BRCA1):c.3167C>T (p.Ser1056Phe) 587781588 MedGen:C0027672,SNOMED CT:C0027672 17 43092364 43092364 G A 236033 single nucleotide variant NM_007294.3(BRCA1):c.3166T>C (p.Ser1056Pro) 876659601 MedGen:C0027672,SNOMED CT:C0027672 17 41244382 41244382 A G 236033 single nucleotide variant NM_007294.3(BRCA1):c.3166T>C (p.Ser1056Pro) 876659601 MedGen:C0027672,SNOMED CT:C0027672 17 43092365 43092365 A G 236034 single nucleotide variant NM_007294.3(BRCA1):c.3160G>A (p.Val1054Met) 876658479 MedGen:C0027672,SNOMED CT:C0027672 17 41244388 41244388 C T 236034 single nucleotide variant NM_007294.3(BRCA1):c.3160G>A (p.Val1054Met) 876658479 MedGen:C0027672,SNOMED CT:C0027672 17 43092371 43092371 C T 236035 single nucleotide variant NM_007294.3(BRCA1):c.3154A>G (p.Asn1052Asp) 768995134 MedGen:C0027672,SNOMED CT:C0027672 17 41244394 41244394 T C 236035 single nucleotide variant NM_007294.3(BRCA1):c.3154A>G (p.Asn1052Asp) 768995134 MedGen:C0027672,SNOMED CT:C0027672 17 43092377 43092377 T C 236036 single nucleotide variant NM_007294.3(BRCA1):c.3035G>A (p.Arg1012Lys) 876658464 MedGen:C0027672,SNOMED CT:C0027672 17 41244513 41244513 C T 236036 single nucleotide variant NM_007294.3(BRCA1):c.3035G>A (p.Arg1012Lys) 876658464 MedGen:C0027672,SNOMED CT:C0027672 17 43092496 43092496 C T 236037 single nucleotide variant NM_007294.3(BRCA1):c.3031G>A (p.Glu1011Lys) 876659974 MedGen:C0027672,SNOMED CT:C0027672 17 41244517 41244517 C T 236037 single nucleotide variant NM_007294.3(BRCA1):c.3031G>A (p.Glu1011Lys) 876659974 MedGen:C0027672,SNOMED CT:C0027672 17 43092500 43092500 C T 236038 single nucleotide variant NM_007294.3(BRCA1):c.3030T>G (p.Pro1010=) 876660048 MedGen:C0027672,SNOMED CT:C0027672 17 41244518 41244518 A C 236038 single nucleotide variant NM_007294.3(BRCA1):c.3030T>G (p.Pro1010=) 876660048 MedGen:C0027672,SNOMED CT:C0027672 17 43092501 43092501 A C 236039 single nucleotide variant NM_007294.3(BRCA1):c.2996T>G (p.Leu999Arg) 876659514 MedGen:C0027672,SNOMED CT:C0027672 17 41244552 41244552 A C 236039 single nucleotide variant NM_007294.3(BRCA1):c.2996T>G (p.Leu999Arg) 876659514 MedGen:C0027672,SNOMED CT:C0027672 17 43092535 43092535 A C 236040 single nucleotide variant NM_007294.3(BRCA1):c.2992C>G (p.Leu998Val) 876659077 MedGen:C0027672,SNOMED CT:C0027672 17 41244556 41244556 G C 236040 single nucleotide variant NM_007294.3(BRCA1):c.2992C>G (p.Leu998Val) 876659077 MedGen:C0027672,SNOMED CT:C0027672 17 43092539 43092539 G C 236041 single nucleotide variant NM_007294.3(BRCA1):c.2973A>C (p.Lys991Asn) 876660683 MedGen:C0027672,SNOMED CT:C0027672 17 41244575 41244575 T G 236041 single nucleotide variant NM_007294.3(BRCA1):c.2973A>C (p.Lys991Asn) 876660683 MedGen:C0027672,SNOMED CT:C0027672 17 43092558 43092558 T G 236042 single nucleotide variant NM_007294.3(BRCA1):c.2969T>C (p.Val990Ala) 760588785 MedGen:C0027672,SNOMED CT:C0027672 17 41244579 41244579 A G 236042 single nucleotide variant NM_007294.3(BRCA1):c.2969T>C (p.Val990Ala) 760588785 MedGen:C0027672,SNOMED CT:C0027672 17 43092562 43092562 A G 236043 single nucleotide variant NM_007294.3(BRCA1):c.2967T>A (p.Phe989Leu) 876659270 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41244581 41244581 A T 236043 single nucleotide variant NM_007294.3(BRCA1):c.2967T>A (p.Phe989Leu) 876659270 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43092564 43092564 A T 236044 single nucleotide variant NM_007294.3(BRCA1):c.2960A>G (p.Lys987Arg) 876659990 MedGen:C0027672,SNOMED CT:C0027672 17 41244588 41244588 T C 236044 single nucleotide variant NM_007294.3(BRCA1):c.2960A>G (p.Lys987Arg) 876659990 MedGen:C0027672,SNOMED CT:C0027672 17 43092571 43092571 T C 236045 deletion NM_007294.3(BRCA1):c.2947delC (p.Leu983Phefs) 876659108 MedGen:C0027672,SNOMED CT:C0027672 17 41244601 41244601 G - 236045 deletion NM_007294.3(BRCA1):c.2947delC (p.Leu983Phefs) 876659108 MedGen:C0027672,SNOMED CT:C0027672 17 43092584 43092584 G - 236046 single nucleotide variant NM_007294.3(BRCA1):c.2942C>A (p.Pro981Gln) 876659025 MedGen:C0027672,SNOMED CT:C0027672 17 41244606 41244606 G T 236046 single nucleotide variant NM_007294.3(BRCA1):c.2942C>A (p.Pro981Gln) 876659025 MedGen:C0027672,SNOMED CT:C0027672 17 43092589 43092589 G T 236047 single nucleotide variant NM_007294.3(BRCA1):c.2932T>C (p.Tyr978His) 876659545 MedGen:C0027672,SNOMED CT:C0027672 17 41244616 41244616 A G 236047 single nucleotide variant NM_007294.3(BRCA1):c.2932T>C (p.Tyr978His) 876659545 MedGen:C0027672,SNOMED CT:C0027672 17 43092599 43092599 A G 236048 single nucleotide variant NM_007294.3(BRCA1):c.2910A>G (p.Lys970=) 431825394 MedGen:C0027672,SNOMED CT:C0027672 17 41244638 41244638 T C 236048 single nucleotide variant NM_007294.3(BRCA1):c.2910A>G (p.Lys970=) 431825394 MedGen:C0027672,SNOMED CT:C0027672 17 43092621 43092621 T C 236049 single nucleotide variant NM_007294.3(BRCA1):c.2894T>G (p.Leu965Arg) 876660682 MedGen:C0027672,SNOMED CT:C0027672 17 41244654 41244654 A C 236049 single nucleotide variant NM_007294.3(BRCA1):c.2894T>G (p.Leu965Arg) 876660682 MedGen:C0027672,SNOMED CT:C0027672 17 43092637 43092637 A C 236050 single nucleotide variant NM_007294.3(BRCA1):c.2889T>C (p.Thr963=) 876659125 MedGen:C0027672,SNOMED CT:C0027672 17 41244659 41244659 A G 236050 single nucleotide variant NM_007294.3(BRCA1):c.2889T>C (p.Thr963=) 876659125 MedGen:C0027672,SNOMED CT:C0027672 17 43092642 43092642 A G 236051 single nucleotide variant NM_007294.3(BRCA1):c.2836A>T (p.Ile946Phe) 876660901 MedGen:C0027672,SNOMED CT:C0027672 17 41244712 41244712 T A 236051 single nucleotide variant NM_007294.3(BRCA1):c.2836A>T (p.Ile946Phe) 876660901 MedGen:C0027672,SNOMED CT:C0027672 17 43092695 43092695 T A 236052 single nucleotide variant NM_007294.3(BRCA1):c.2831G>A (p.Cys944Tyr) 770769275 MedGen:C0027672,SNOMED CT:C0027672 17 41244717 41244717 C T 236052 single nucleotide variant NM_007294.3(BRCA1):c.2831G>A (p.Cys944Tyr) 770769275 MedGen:C0027672,SNOMED CT:C0027672 17 43092700 43092700 C T 236053 single nucleotide variant NM_007294.3(BRCA1):c.2811G>A (p.Lys937=) 876659271 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41244737 41244737 C T 236053 single nucleotide variant NM_007294.3(BRCA1):c.2811G>A (p.Lys937=) 876659271 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43092720 43092720 C T 236054 single nucleotide variant NM_007294.3(BRCA1):c.2798G>C (p.Gly933Ala) 80356941 MedGen:C0027672,SNOMED CT:C0027672 17 41244750 41244750 C G 236054 single nucleotide variant NM_007294.3(BRCA1):c.2798G>C (p.Gly933Ala) 80356941 MedGen:C0027672,SNOMED CT:C0027672 17 43092733 43092733 C G 236055 single nucleotide variant NM_007294.3(BRCA1):c.2793G>A (p.Val931=) 876660555 MedGen:C0027672,SNOMED CT:C0027672 17 41244755 41244755 C T 236055 single nucleotide variant NM_007294.3(BRCA1):c.2793G>A (p.Val931=) 876660555 MedGen:C0027672,SNOMED CT:C0027672 17 43092738 43092738 C T 236056 single nucleotide variant NM_007294.3(BRCA1):c.2790T>C (p.Pro930=) 876659151 MedGen:C0027672,SNOMED CT:C0027672 17 41244758 41244758 A G 236056 single nucleotide variant NM_007294.3(BRCA1):c.2790T>C (p.Pro930=) 876659151 MedGen:C0027672,SNOMED CT:C0027672 17 43092741 43092741 A G 236057 single nucleotide variant NM_007294.3(BRCA1):c.2757T>C (p.Pro919=) 755516286 MedGen:C0027672,SNOMED CT:C0027672 17 41244791 41244791 A G 236057 single nucleotide variant NM_007294.3(BRCA1):c.2757T>C (p.Pro919=) 755516286 MedGen:C0027672,SNOMED CT:C0027672 17 43092774 43092774 A G 236058 single nucleotide variant NM_007294.3(BRCA1):c.2745T>G (p.Ser915=) 876658748 MedGen:C0027672,SNOMED CT:C0027672 17 41244803 41244803 A C 236058 single nucleotide variant NM_007294.3(BRCA1):c.2745T>G (p.Ser915=) 876658748 MedGen:C0027672,SNOMED CT:C0027672 17 43092786 43092786 A C 236059 single nucleotide variant NM_007294.3(BRCA1):c.2739T>C (p.Asn913=) 273899688 MedGen:C0027672,SNOMED CT:C0027672 17 41244809 41244809 A G 236059 single nucleotide variant NM_007294.3(BRCA1):c.2739T>C (p.Asn913=) 273899688 MedGen:C0027672,SNOMED CT:C0027672 17 43092792 43092792 A G 236060 single nucleotide variant NM_007294.3(BRCA1):c.2738A>G (p.Asn913Ser) 199954851 MedGen:C0027672,SNOMED CT:C0027672 17 41244810 41244810 T C 236060 single nucleotide variant NM_007294.3(BRCA1):c.2738A>G (p.Asn913Ser) 199954851 MedGen:C0027672,SNOMED CT:C0027672 17 43092793 43092793 T C 236061 single nucleotide variant NM_007294.3(BRCA1):c.2719G>T (p.Glu907Ter) 876658593 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41244829 41244829 C A 236061 single nucleotide variant NM_007294.3(BRCA1):c.2719G>T (p.Glu907Ter) 876658593 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43092812 43092812 C A 236062 deletion NM_007294.3(BRCA1):c.2717delA (p.Lys906Argfs) 876659072 MedGen:C0027672,SNOMED CT:C0027672 17 41244831 41244831 T - 236062 deletion NM_007294.3(BRCA1):c.2717delA (p.Lys906Argfs) 876659072 MedGen:C0027672,SNOMED CT:C0027672 17 43092814 43092814 T - 236063 single nucleotide variant NM_007294.3(BRCA1):c.2680A>T (p.Lys894Ter) 876659457 MedGen:C0027672,SNOMED CT:C0027672 17 41244868 41244868 T A 236063 single nucleotide variant NM_007294.3(BRCA1):c.2680A>T (p.Lys894Ter) 876659457 MedGen:C0027672,SNOMED CT:C0027672 17 43092851 43092851 T A 236064 single nucleotide variant NM_007294.3(BRCA1):c.2679G>A (p.Lys893=) 587781771 MedGen:C0027672,SNOMED CT:C0027672 17 41244869 41244869 C T 236064 single nucleotide variant NM_007294.3(BRCA1):c.2679G>A (p.Lys893=) 587781771 MedGen:C0027672,SNOMED CT:C0027672 17 43092852 43092852 C T 236065 duplication NM_007294.3(BRCA1):c.2666dupC (p.Gly890Trpfs) 876660425 MedGen:C0027672,SNOMED CT:C0027672 17 41244882 41244882 G GG 236065 duplication NM_007294.3(BRCA1):c.2666dupC (p.Gly890Trpfs) 876660425 MedGen:C0027672,SNOMED CT:C0027672 17 43092865 43092865 G GG 236066 single nucleotide variant NM_007294.3(BRCA1):c.2663A>C (p.His888Pro) 876658843 MedGen:C0027672,SNOMED CT:C0027672 17 41244885 41244885 T G 236066 single nucleotide variant NM_007294.3(BRCA1):c.2663A>C (p.His888Pro) 876658843 MedGen:C0027672,SNOMED CT:C0027672 17 43092868 43092868 T G 236067 single nucleotide variant NM_007294.3(BRCA1):c.2625A>T (p.Pro875=) 754222140 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41244923 41244923 T A 236067 single nucleotide variant NM_007294.3(BRCA1):c.2625A>T (p.Pro875=) 754222140 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43092906 43092906 T A 236068 single nucleotide variant NM_007294.3(BRCA1):c.2625A>G (p.Pro875=) 754222140 MedGen:C0027672,SNOMED CT:C0027672 17 41244923 41244923 T C 236068 single nucleotide variant NM_007294.3(BRCA1):c.2625A>G (p.Pro875=) 754222140 MedGen:C0027672,SNOMED CT:C0027672 17 43092906 43092906 T C 236069 single nucleotide variant NM_007294.3(BRCA1):c.2601G>A (p.Gln867=) 876659166 MedGen:C0027672,SNOMED CT:C0027672 17 41244947 41244947 C T 236069 single nucleotide variant NM_007294.3(BRCA1):c.2601G>A (p.Gln867=) 876659166 MedGen:C0027672,SNOMED CT:C0027672 17 43092930 43092930 C T 236070 single nucleotide variant NM_007294.3(BRCA1):c.2580A>G (p.Thr860=) 556684572 MedGen:C0027672,SNOMED CT:C0027672 17 41244968 41244968 T C 236070 single nucleotide variant NM_007294.3(BRCA1):c.2580A>G (p.Thr860=) 556684572 MedGen:C0027672,SNOMED CT:C0027672 17 43092951 43092951 T C 236071 single nucleotide variant NM_007294.3(BRCA1):c.2535A>C (p.Ile845=) 876660248 MedGen:C0027672,SNOMED CT:C0027672 17 41245013 41245013 T G 236071 single nucleotide variant NM_007294.3(BRCA1):c.2535A>C (p.Ile845=) 876660248 MedGen:C0027672,SNOMED CT:C0027672 17 43092996 43092996 T G 236072 single nucleotide variant NM_007294.3(BRCA1):c.2524G>A (p.Glu842Lys) 876658552 MedGen:C0027672,SNOMED CT:C0027672 17 41245024 41245024 C T 236072 single nucleotide variant NM_007294.3(BRCA1):c.2524G>A (p.Glu842Lys) 876658552 MedGen:C0027672,SNOMED CT:C0027672 17 43093007 43093007 C T 236073 single nucleotide variant NM_007294.3(BRCA1):c.2518A>C (p.Ser840Arg) 377475866 MedGen:C0027672,SNOMED CT:C0027672 17 41245030 41245030 T G 236073 single nucleotide variant NM_007294.3(BRCA1):c.2518A>C (p.Ser840Arg) 377475866 MedGen:C0027672,SNOMED CT:C0027672 17 43093013 43093013 T G 236074 single nucleotide variant NM_007294.3(BRCA1):c.2468G>T (p.Arg823Ile) 876659731 MedGen:C0027672,SNOMED CT:C0027672 17 41245080 41245080 C A 236074 single nucleotide variant NM_007294.3(BRCA1):c.2468G>T (p.Arg823Ile) 876659731 MedGen:C0027672,SNOMED CT:C0027672 17 43093063 43093063 C A 236075 duplication NM_007294.3(BRCA1):c.2433dupC (p.Lys812Glnfs) 876658361 MedGen:C0027672,SNOMED CT:C0027672 17 41245115 41245115 G GG 236075 duplication NM_007294.3(BRCA1):c.2433dupC (p.Lys812Glnfs) 876658361 MedGen:C0027672,SNOMED CT:C0027672 17 43093098 43093098 G GG 236076 single nucleotide variant NM_007294.3(BRCA1):c.2404G>T (p.Val802Leu) 876660885 MedGen:C0027672,SNOMED CT:C0027672 17 41245144 41245144 C A 236076 single nucleotide variant NM_007294.3(BRCA1):c.2404G>T (p.Val802Leu) 876660885 MedGen:C0027672,SNOMED CT:C0027672 17 43093127 43093127 C A 236077 deletion NM_007294.3(BRCA1):c.2402delG (p.Cys801Leufs) 876659447 MedGen:C0027672,SNOMED CT:C0027672 17 41245146 41245146 C - 236077 deletion NM_007294.3(BRCA1):c.2402delG (p.Cys801Leufs) 876659447 MedGen:C0027672,SNOMED CT:C0027672 17 43093129 43093129 C - 236078 single nucleotide variant NM_007294.3(BRCA1):c.2393C>T (p.Pro798Leu) 876660005 MedGen:C0027672,SNOMED CT:C0027672 17 41245155 41245155 G A 236078 single nucleotide variant NM_007294.3(BRCA1):c.2393C>T (p.Pro798Leu) 876660005 MedGen:C0027672,SNOMED CT:C0027672 17 43093138 43093138 G A 236079 indel NM_007294.3(BRCA1):c.2386_2387delACinsT (p.Thr796Terfs) 876660305 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41245161 41245162 GT A 236079 indel NM_007294.3(BRCA1):c.2386_2387delACinsT (p.Thr796Terfs) 876660305 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43093144 43093145 GT A 236080 single nucleotide variant NM_007294.3(BRCA1):c.2381C>T (p.Ala794Val) 7502059 MedGen:C0027672,SNOMED CT:C0027672 17 41245167 41245167 G A 236080 single nucleotide variant NM_007294.3(BRCA1):c.2381C>T (p.Ala794Val) 7502059 MedGen:C0027672,SNOMED CT:C0027672 17 43093150 43093150 G A 236081 deletion NM_007294.3(BRCA1):c.2362delG (p.Val788Leufs) 876659136 MedGen:C0027672,SNOMED CT:C0027672 17 41245186 41245186 C - 236081 deletion NM_007294.3(BRCA1):c.2362delG (p.Val788Leufs) 876659136 MedGen:C0027672,SNOMED CT:C0027672 17 43093169 43093169 C - 236082 single nucleotide variant NM_007294.3(BRCA1):c.2316A>C (p.Val772=) 876658590 MedGen:C0027672,SNOMED CT:C0027672 17 41245232 41245232 T G 236082 single nucleotide variant NM_007294.3(BRCA1):c.2316A>C (p.Val772=) 876658590 MedGen:C0027672,SNOMED CT:C0027672 17 43093215 43093215 T G 236083 deletion NM_007294.3(BRCA1):c.2289delT (p.Val764Terfs) 876658791 MedGen:C0027672,SNOMED CT:C0027672 17 43093242 43093242 A - 236084 single nucleotide variant NM_007294.3(BRCA1):c.2288C>G (p.Ser763Cys) 876660112 MedGen:C0027672,SNOMED CT:C0027672 17 41245260 41245260 G C 236084 single nucleotide variant NM_007294.3(BRCA1):c.2288C>G (p.Ser763Cys) 876660112 MedGen:C0027672,SNOMED CT:C0027672 17 43093243 43093243 G C 236085 single nucleotide variant NM_007294.3(BRCA1):c.2274G>A (p.Leu758=) 876660823 MedGen:C0027672,SNOMED CT:C0027672 17 41245274 41245274 C T 236085 single nucleotide variant NM_007294.3(BRCA1):c.2274G>A (p.Leu758=) 876660823 MedGen:C0027672,SNOMED CT:C0027672 17 43093257 43093257 C T 236086 single nucleotide variant NM_007294.3(BRCA1):c.2263G>A (p.Glu755Lys) 41286296 MedGen:C0027672,SNOMED CT:C0027672 17 41245285 41245285 C T 236086 single nucleotide variant NM_007294.3(BRCA1):c.2263G>A (p.Glu755Lys) 41286296 MedGen:C0027672,SNOMED CT:C0027672 17 43093268 43093268 C T 236087 single nucleotide variant NM_007294.3(BRCA1):c.2236G>T (p.Asp746Tyr) 876660267 MedGen:C0027672,SNOMED CT:C0027672 17 41245312 41245312 C A 236087 single nucleotide variant NM_007294.3(BRCA1):c.2236G>T (p.Asp746Tyr) 876660267 MedGen:C0027672,SNOMED CT:C0027672 17 43093295 43093295 C A 236088 single nucleotide variant NM_007294.3(BRCA1):c.2235A>C (p.Glu745Asp) 876660266 MedGen:C0027672,SNOMED CT:C0027672 17 41245313 41245313 T G 236088 single nucleotide variant NM_007294.3(BRCA1):c.2235A>C (p.Glu745Asp) 876660266 MedGen:C0027672,SNOMED CT:C0027672 17 43093296 43093296 T G 236089 single nucleotide variant NM_007294.3(BRCA1):c.2224A>G (p.Asn742Asp) 876658733 MedGen:C0027672,SNOMED CT:C0027672 17 41245324 41245324 T C 236089 single nucleotide variant NM_007294.3(BRCA1):c.2224A>G (p.Asn742Asp) 876658733 MedGen:C0027672,SNOMED CT:C0027672 17 43093307 43093307 T C 236090 single nucleotide variant NM_007294.3(BRCA1):c.2195A>C (p.Glu732Ala) 876660463 MedGen:C0027672,SNOMED CT:C0027672 17 41245353 41245353 T G 236090 single nucleotide variant NM_007294.3(BRCA1):c.2195A>C (p.Glu732Ala) 876660463 MedGen:C0027672,SNOMED CT:C0027672 17 43093336 43093336 T G 236091 single nucleotide variant NM_007294.3(BRCA1):c.2185G>A (p.Glu729Lys) 876659852 MedGen:C0027672,SNOMED CT:C0027672 17 41245363 41245363 C T 236091 single nucleotide variant NM_007294.3(BRCA1):c.2185G>A (p.Glu729Lys) 876659852 MedGen:C0027672,SNOMED CT:C0027672 17 43093346 43093346 C T 236092 single nucleotide variant NM_007294.3(BRCA1):c.2156A>C (p.Lys719Thr) 876660920 MedGen:C0027672,SNOMED CT:C0027672 17 41245392 41245392 T G 236092 single nucleotide variant NM_007294.3(BRCA1):c.2156A>C (p.Lys719Thr) 876660920 MedGen:C0027672,SNOMED CT:C0027672 17 43093375 43093375 T G 236093 single nucleotide variant NM_007294.3(BRCA1):c.2131A>G (p.Lys711Glu) 747046197 MedGen:C0027672,SNOMED CT:C0027672 17 41245417 41245417 T C 236093 single nucleotide variant NM_007294.3(BRCA1):c.2131A>G (p.Lys711Glu) 747046197 MedGen:C0027672,SNOMED CT:C0027672 17 43093400 43093400 T C 236094 single nucleotide variant NM_007294.3(BRCA1):c.2128A>G (p.Thr710Ala) 876659959 MedGen:C0027672,SNOMED CT:C0027672 17 41245420 41245420 T C 236094 single nucleotide variant NM_007294.3(BRCA1):c.2128A>G (p.Thr710Ala) 876659959 MedGen:C0027672,SNOMED CT:C0027672 17 43093403 43093403 T C 236095 single nucleotide variant NM_007294.3(BRCA1):c.2102A>G (p.Lys701Arg) 876658307 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41245446 41245446 T C 236095 single nucleotide variant NM_007294.3(BRCA1):c.2102A>G (p.Lys701Arg) 876658307 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43093429 43093429 T C 236096 single nucleotide variant NM_007294.3(BRCA1):c.2101A>T (p.Lys701Ter) 876660282 MedGen:C0027672,SNOMED CT:C0027672 17 41245447 41245447 T A 236096 single nucleotide variant NM_007294.3(BRCA1):c.2101A>T (p.Lys701Ter) 876660282 MedGen:C0027672,SNOMED CT:C0027672 17 43093430 43093430 T A 236097 single nucleotide variant NM_007294.3(BRCA1):c.2095G>C (p.Glu699Gln) 876658306 MedGen:C0027672,SNOMED CT:C0027672 17 41245453 41245453 C G 236097 single nucleotide variant NM_007294.3(BRCA1):c.2095G>C (p.Glu699Gln) 876658306 MedGen:C0027672,SNOMED CT:C0027672 17 43093436 43093436 C G 236098 single nucleotide variant NM_007294.3(BRCA1):c.2065A>G (p.Ser689Gly) 876660188 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41245483 41245483 T C 236098 single nucleotide variant NM_007294.3(BRCA1):c.2065A>G (p.Ser689Gly) 876660188 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43093466 43093466 T C 236099 single nucleotide variant NM_007294.3(BRCA1):c.2043T>G (p.Ser681Arg) 143920945 MedGen:C0027672,SNOMED CT:C0027672 17 41245505 41245505 A C 236099 single nucleotide variant NM_007294.3(BRCA1):c.2043T>G (p.Ser681Arg) 143920945 MedGen:C0027672,SNOMED CT:C0027672 17 43093488 43093488 A C 236100 single nucleotide variant NM_007294.3(BRCA1):c.2022T>G (p.Pro674=) 771519405 MedGen:C0027672,SNOMED CT:C0027672 17 41245526 41245526 A C 236100 single nucleotide variant NM_007294.3(BRCA1):c.2022T>G (p.Pro674=) 771519405 MedGen:C0027672,SNOMED CT:C0027672 17 43093509 43093509 A C 236101 single nucleotide variant NM_007294.3(BRCA1):c.2021C>G (p.Pro674Arg) 876660543 MedGen:C0027672,SNOMED CT:C0027672 17 41245527 41245527 G C 236101 single nucleotide variant NM_007294.3(BRCA1):c.2021C>G (p.Pro674Arg) 876660543 MedGen:C0027672,SNOMED CT:C0027672 17 43093510 43093510 G C 236102 single nucleotide variant NM_007294.3(BRCA1):c.1978G>A (p.Val660Ile) 876660889 MedGen:C0027672,SNOMED CT:C0027672 17 41245570 41245570 C T 236102 single nucleotide variant NM_007294.3(BRCA1):c.1978G>A (p.Val660Ile) 876660889 MedGen:C0027672,SNOMED CT:C0027672 17 43093553 43093553 C T 236103 single nucleotide variant NM_007294.3(BRCA1):c.1944A>G (p.Glu648=) 876660781 MedGen:C0027672,SNOMED CT:C0027672 17 41245604 41245604 T C 236103 single nucleotide variant NM_007294.3(BRCA1):c.1944A>G (p.Glu648=) 876660781 MedGen:C0027672,SNOMED CT:C0027672 17 43093587 43093587 T C 236104 single nucleotide variant NM_007294.3(BRCA1):c.1931G>T (p.Cys644Phe) 876658606 MedGen:C0027672,SNOMED CT:C0027672 17 41245617 41245617 C A 236104 single nucleotide variant NM_007294.3(BRCA1):c.1931G>T (p.Cys644Phe) 876658606 MedGen:C0027672,SNOMED CT:C0027672 17 43093600 43093600 C A 236105 single nucleotide variant NM_007294.3(BRCA1):c.1928G>T (p.Ser643Ile) 876660335 MedGen:C0027672,SNOMED CT:C0027672 17 41245620 41245620 C A 236105 single nucleotide variant NM_007294.3(BRCA1):c.1928G>T (p.Ser643Ile) 876660335 MedGen:C0027672,SNOMED CT:C0027672 17 43093603 43093603 C A 236106 single nucleotide variant NM_007294.3(BRCA1):c.1891C>A (p.Leu631Ile) 876659175 MedGen:C0027672,SNOMED CT:C0027672 17 41245657 41245657 G T 236106 single nucleotide variant NM_007294.3(BRCA1):c.1891C>A (p.Leu631Ile) 876659175 MedGen:C0027672,SNOMED CT:C0027672 17 43093640 43093640 G T 236107 single nucleotide variant NM_007294.3(BRCA1):c.1886G>T (p.Arg629Ile) 876660144 MedGen:C0027672,SNOMED CT:C0027672 17 41245662 41245662 C A 236107 single nucleotide variant NM_007294.3(BRCA1):c.1886G>T (p.Arg629Ile) 876660144 MedGen:C0027672,SNOMED CT:C0027672 17 43093645 43093645 C A 236108 single nucleotide variant NM_007294.3(BRCA1):c.1878A>G (p.Val626=) 8176154 MedGen:C0027672,SNOMED CT:C0027672 17 41245670 41245670 T C 236108 single nucleotide variant NM_007294.3(BRCA1):c.1878A>G (p.Val626=) 8176154 MedGen:C0027672,SNOMED CT:C0027672 17 43093653 43093653 T C 236109 single nucleotide variant NM_007294.3(BRCA1):c.1853G>A (p.Arg618Lys) 876659527 MedGen:C0027672,SNOMED CT:C0027672 17 41245695 41245695 C T 236109 single nucleotide variant NM_007294.3(BRCA1):c.1853G>A (p.Arg618Lys) 876659527 MedGen:C0027672,SNOMED CT:C0027672 17 43093678 43093678 C T 236110 duplication NM_007294.3(BRCA1):c.1836dupG (p.Arg613Glufs) 876660523 MedGen:C0027672,SNOMED CT:C0027672 17 41245712 41245712 C CC 236110 duplication NM_007294.3(BRCA1):c.1836dupG (p.Arg613Glufs) 876660523 MedGen:C0027672,SNOMED CT:C0027672 17 43093695 43093695 C CC 236111 single nucleotide variant NM_007294.3(BRCA1):c.1829G>A (p.Arg610Lys) 876660322 MedGen:C0027672,SNOMED CT:C0027672 17 41245719 41245719 C T 236111 single nucleotide variant NM_007294.3(BRCA1):c.1829G>A (p.Arg610Lys) 876660322 MedGen:C0027672,SNOMED CT:C0027672 17 43093702 43093702 C T 236112 single nucleotide variant NM_007294.3(BRCA1):c.1794A>G (p.Leu598=) 876659644 MedGen:C0027672,SNOMED CT:C0027672 17 41245754 41245754 T C 236112 single nucleotide variant NM_007294.3(BRCA1):c.1794A>G (p.Leu598=) 876659644 MedGen:C0027672,SNOMED CT:C0027672 17 43093737 43093737 T C 236113 single nucleotide variant NM_007294.3(BRCA1):c.1784A>G (p.Glu595Gly) 876660455 MedGen:C0027672,SNOMED CT:C0027672 17 41245764 41245764 T C 236113 single nucleotide variant NM_007294.3(BRCA1):c.1784A>G (p.Glu595Gly) 876660455 MedGen:C0027672,SNOMED CT:C0027672 17 43093747 43093747 T C 236114 single nucleotide variant NM_007294.3(BRCA1):c.1776C>T (p.Ser592=) 876658911 MedGen:C0027672,SNOMED CT:C0027672 17 41245772 41245772 G A 236114 single nucleotide variant NM_007294.3(BRCA1):c.1776C>T (p.Ser592=) 876658911 MedGen:C0027672,SNOMED CT:C0027672 17 43093755 43093755 G A 236115 indel NM_007294.3(BRCA1):c.1768_1770delAGTinsC (p.Ser590Hisfs) 876659196 MedGen:C0027672,SNOMED CT:C0027672 17 41245778 41245780 ACT G 236115 indel NM_007294.3(BRCA1):c.1768_1770delAGTinsC (p.Ser590Hisfs) 876659196 MedGen:C0027672,SNOMED CT:C0027672 17 43093761 43093763 ACT G 236116 single nucleotide variant NM_007294.3(BRCA1):c.1749A>G (p.Lys583=) 876659580 MedGen:C0027672,SNOMED CT:C0027672 17 41245799 41245799 T C 236116 single nucleotide variant NM_007294.3(BRCA1):c.1749A>G (p.Lys583=) 876659580 MedGen:C0027672,SNOMED CT:C0027672 17 43093782 43093782 T C 236117 single nucleotide variant NM_007294.3(BRCA1):c.1718C>T (p.Ser573Leu) 876660434 MedGen:C0027672,SNOMED CT:C0027672 17 41245830 41245830 G A 236117 single nucleotide variant NM_007294.3(BRCA1):c.1718C>T (p.Ser573Leu) 876660434 MedGen:C0027672,SNOMED CT:C0027672 17 43093813 43093813 G A 236118 single nucleotide variant NM_007294.3(BRCA1):c.1717T>C (p.Ser573Pro) 876660448 MedGen:C0027672,SNOMED CT:C0027672 17 41245831 41245831 A G 236118 single nucleotide variant NM_007294.3(BRCA1):c.1717T>C (p.Ser573Pro) 876660448 MedGen:C0027672,SNOMED CT:C0027672 17 43093814 43093814 A G 236119 single nucleotide variant NM_007294.3(BRCA1):c.1714G>C (p.Glu572Gln) 730881473 MedGen:C0027672,SNOMED CT:C0027672 17 41245834 41245834 C G 236119 single nucleotide variant NM_007294.3(BRCA1):c.1714G>C (p.Glu572Gln) 730881473 MedGen:C0027672,SNOMED CT:C0027672 17 43093817 43093817 C G 236120 single nucleotide variant NM_007294.3(BRCA1):c.1710A>G (p.Pro570=) 876659901 MedGen:C0027672,SNOMED CT:C0027672 17 41245838 41245838 T C 236120 single nucleotide variant NM_007294.3(BRCA1):c.1710A>G (p.Pro570=) 876659901 MedGen:C0027672,SNOMED CT:C0027672 17 43093821 43093821 T C 236121 single nucleotide variant NM_007294.3(BRCA1):c.1707C>T (p.Asn569=) 876659110 MedGen:C0027672,SNOMED CT:C0027672 17 41245841 41245841 G A 236121 single nucleotide variant NM_007294.3(BRCA1):c.1707C>T (p.Asn569=) 876659110 MedGen:C0027672,SNOMED CT:C0027672 17 43093824 43093824 G A 236122 single nucleotide variant NM_007294.3(BRCA1):c.1662G>C (p.Glu554Asp) 876659028 MedGen:C0027672,SNOMED CT:C0027672 17 41245886 41245886 C G 236122 single nucleotide variant NM_007294.3(BRCA1):c.1662G>C (p.Glu554Asp) 876659028 MedGen:C0027672,SNOMED CT:C0027672 17 43093869 43093869 C G 236123 single nucleotide variant NM_007294.3(BRCA1):c.1654G>A (p.Gly552Ser) 758598971 MedGen:C0027672,SNOMED CT:C0027672 17 41245894 41245894 C T 236123 single nucleotide variant NM_007294.3(BRCA1):c.1654G>A (p.Gly552Ser) 758598971 MedGen:C0027672,SNOMED CT:C0027672 17 43093877 43093877 C T 236124 single nucleotide variant NM_007294.3(BRCA1):c.1632A>G (p.Gln544=) 876658401 MedGen:C0027672,SNOMED CT:C0027672 17 41245916 41245916 T C 236124 single nucleotide variant NM_007294.3(BRCA1):c.1632A>G (p.Gln544=) 876658401 MedGen:C0027672,SNOMED CT:C0027672 17 43093899 43093899 T C 236125 indel NM_007294.3(BRCA1):c.1542_1550delTGAGGATTTinsCG (p.Glu515Valfs) 876659591 MedGen:C0027672,SNOMED CT:C0027672 17 41245998 41246006 AAATCCTCA CG 236125 indel NM_007294.3(BRCA1):c.1542_1550delTGAGGATTTinsCG (p.Glu515Valfs) 876659591 MedGen:C0027672,SNOMED CT:C0027672 17 43093981 43093989 AAATCCTCA CG 236126 deletion NM_007294.3(BRCA1):c.1505_1509delTAAAG (p.Leu502Serfs) 876659139 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41246039 41246043 CTTTA - 236126 deletion NM_007294.3(BRCA1):c.1505_1509delTAAAG (p.Leu502Serfs) 876659139 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43094022 43094026 CTTTA - 236127 single nucleotide variant NM_007294.3(BRCA1):c.1496C>T (p.Thr499Ile) 876658285 MedGen:C0027672,SNOMED CT:C0027672 17 41246052 41246052 G A 236127 single nucleotide variant NM_007294.3(BRCA1):c.1496C>T (p.Thr499Ile) 876658285 MedGen:C0027672,SNOMED CT:C0027672 17 43094035 43094035 G A 236128 single nucleotide variant NM_007294.3(BRCA1):c.1472A>C (p.Gln491Pro) 80357376 MedGen:C0027672,SNOMED CT:C0027672 17 43094059 43094059 T G 236128 single nucleotide variant NM_007294.3(BRCA1):c.1472A>C (p.Gln491Pro) 80357376 MedGen:C0027672,SNOMED CT:C0027672 17 41246076 41246076 T G 236129 single nucleotide variant NM_007294.3(BRCA1):c.1469C>T (p.Pro490Leu) 876658291 MedGen:C0027672,SNOMED CT:C0027672 17 41246079 41246079 G A 236129 single nucleotide variant NM_007294.3(BRCA1):c.1469C>T (p.Pro490Leu) 876658291 MedGen:C0027672,SNOMED CT:C0027672 17 43094062 43094062 G A 236130 single nucleotide variant NM_007294.3(BRCA1):c.1434T>G (p.Thr478=) 876658280 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41246114 41246114 A C 236130 single nucleotide variant NM_007294.3(BRCA1):c.1434T>G (p.Thr478=) 876658280 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43094097 43094097 A C 236131 single nucleotide variant NM_007294.3(BRCA1):c.1400A>G (p.Lys467Arg) 876659316 MedGen:C0027672,SNOMED CT:C0027672 17 41246148 41246148 T C 236131 single nucleotide variant NM_007294.3(BRCA1):c.1400A>G (p.Lys467Arg) 876659316 MedGen:C0027672,SNOMED CT:C0027672 17 43094131 43094131 T C 236132 single nucleotide variant NM_007294.3(BRCA1):c.1394A>G (p.Tyr465Cys) 876659885 MedGen:C0027672,SNOMED CT:C0027672 17 41246154 41246154 T C 236132 single nucleotide variant NM_007294.3(BRCA1):c.1394A>G (p.Tyr465Cys) 876659885 MedGen:C0027672,SNOMED CT:C0027672 17 43094137 43094137 T C 236133 single nucleotide variant NM_007294.3(BRCA1):c.1386G>A (p.Gly462=) 876659749 MedGen:C0027672,SNOMED CT:C0027672 17 41246162 41246162 C T 236133 single nucleotide variant NM_007294.3(BRCA1):c.1386G>A (p.Gly462=) 876659749 MedGen:C0027672,SNOMED CT:C0027672 17 43094145 43094145 C T 236134 single nucleotide variant NM_007294.3(BRCA1):c.1324T>C (p.Cys442Arg) 876660734 MedGen:C0027672,SNOMED CT:C0027672 17 41246224 41246224 A G 236134 single nucleotide variant NM_007294.3(BRCA1):c.1324T>C (p.Cys442Arg) 876660734 MedGen:C0027672,SNOMED CT:C0027672 17 43094207 43094207 A G 236135 single nucleotide variant NM_007294.3(BRCA1):c.1319T>G (p.Leu440Ter) 273897656 MedGen:C0027672,SNOMED CT:C0027672 17 41246229 41246229 A C 236135 single nucleotide variant NM_007294.3(BRCA1):c.1319T>G (p.Leu440Ter) 273897656 MedGen:C0027672,SNOMED CT:C0027672 17 43094212 43094212 A C 236136 single nucleotide variant NM_007294.3(BRCA1):c.1255G>C (p.Val419Leu) 876658873 MedGen:C0027672,SNOMED CT:C0027672 17 41246293 41246293 C G 236136 single nucleotide variant NM_007294.3(BRCA1):c.1255G>C (p.Val419Leu) 876658873 MedGen:C0027672,SNOMED CT:C0027672 17 43094276 43094276 C G 236137 deletion NM_007294.3(BRCA1):c.1252delG (p.Glu418Argfs) 876660623 MedGen:C0027672,SNOMED CT:C0027672 17 41246296 41246296 C - 236137 deletion NM_007294.3(BRCA1):c.1252delG (p.Glu418Argfs) 876660623 MedGen:C0027672,SNOMED CT:C0027672 17 43094279 43094279 C - 236138 indel NM_007294.3(BRCA1):c.1232_1235delATGTinsCA (p.Asp411Alafs) 876659253 MedGen:C0027672,SNOMED CT:C0027672 17 41246313 41246316 ACAT TG 236138 indel NM_007294.3(BRCA1):c.1232_1235delATGTinsCA (p.Asp411Alafs) 876659253 MedGen:C0027672,SNOMED CT:C0027672 17 43094296 43094299 ACAT TG 236139 single nucleotide variant NM_007294.3(BRCA1):c.1159T>A (p.Ser387Thr) 876659403 MedGen:C0027672,SNOMED CT:C0027672 17 41246389 41246389 A T 236139 single nucleotide variant NM_007294.3(BRCA1):c.1159T>A (p.Ser387Thr) 876659403 MedGen:C0027672,SNOMED CT:C0027672 17 43094372 43094372 A T 236140 single nucleotide variant NM_007294.3(BRCA1):c.1155G>A (p.Trp385Ter) 876660558 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41246393 41246393 C T 236140 single nucleotide variant NM_007294.3(BRCA1):c.1155G>A (p.Trp385Ter) 876660558 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43094376 43094376 C T 236141 duplication NM_007294.3(BRCA1):c.1140dupG (p.Lys381Glufs) 876659327 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 41246408 41246408 C CC 236141 duplication NM_007294.3(BRCA1):c.1140dupG (p.Lys381Glufs) 876659327 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 17 43094391 43094391 C CC 236142 single nucleotide variant NM_007294.3(BRCA1):c.1139A>C (p.Gln380Pro) 876659193 MedGen:C0027672,SNOMED CT:C0027672 17 41246409 41246409 T G 236142 single nucleotide variant NM_007294.3(BRCA1):c.1139A>C (p.Gln380Pro) 876659193 MedGen:C0027672,SNOMED CT:C0027672 17 43094392 43094392 T G 236143 single nucleotide variant NM_007294.3(BRCA1):c.1113T>C (p.Pro371=) 876658619 MedGen:C0027672,SNOMED CT:C0027672 17 41246435 41246435 A G 236143 single nucleotide variant NM_007294.3(BRCA1):c.1113T>C (p.Pro371=) 876658619 MedGen:C0027672,SNOMED CT:C0027672 17 43094418 43094418 A G 236144 insertion NM_007294.3(BRCA1):c.1105_1106insTC (p.Asp369Valfs) 876659396 MedGen:C0027672,SNOMED CT:C0027672 17 41246442 41246443 - GA 236144 insertion NM_007294.3(BRCA1):c.1105_1106insTC (p.Asp369Valfs) 876659396 MedGen:C0027672,SNOMED CT:C0027672 17 43094425 43094426 - GA 236145 single nucleotide variant NM_007294.3(BRCA1):c.1098T>C (p.Asp366=) 876658148 MedGen:C0027672,SNOMED CT:C0027672 17 41246450 41246450 A G 236145 single nucleotide variant NM_007294.3(BRCA1):c.1098T>C (p.Asp366=) 876658148 MedGen:C0027672,SNOMED CT:C0027672 17 43094433 43094433 A G 236146 single nucleotide variant NM_007294.3(BRCA1):c.1090C>A (p.Pro364Thr) 876660309 MedGen:C0027672,SNOMED CT:C0027672 17 41246458 41246458 G T 236146 single nucleotide variant NM_007294.3(BRCA1):c.1090C>A (p.Pro364Thr) 876660309 MedGen:C0027672,SNOMED CT:C0027672 17 43094441 43094441 G T 236147 single nucleotide variant NM_007294.3(BRCA1):c.1072C>T (p.Leu358=) 377310179 MedGen:C0027672,SNOMED CT:C0027672 17 41246476 41246476 G A 236147 single nucleotide variant NM_007294.3(BRCA1):c.1072C>T (p.Leu358=) 377310179 MedGen:C0027672,SNOMED CT:C0027672 17 43094459 43094459 G A 236148 single nucleotide variant NM_007294.3(BRCA1):c.1031C>T (p.Ala344Val) 876658636 MedGen:C0027672,SNOMED CT:C0027672 17 41246517 41246517 G A 236148 single nucleotide variant NM_007294.3(BRCA1):c.1031C>T (p.Ala344Val) 876658636 MedGen:C0027672,SNOMED CT:C0027672 17 43094500 43094500 G A 236149 single nucleotide variant NM_007294.3(BRCA1):c.1014A>G (p.Lys338=) 876660793 MedGen:C0027672,SNOMED CT:C0027672 17 41246534 41246534 T C 236149 single nucleotide variant NM_007294.3(BRCA1):c.1014A>G (p.Lys338=) 876660793 MedGen:C0027672,SNOMED CT:C0027672 17 43094517 43094517 T C 236150 single nucleotide variant NM_007294.3(BRCA1):c.1005C>A (p.Ser335Arg) 876660367 MedGen:C0027672,SNOMED CT:C0027672 17 41246543 41246543 G T 236150 single nucleotide variant NM_007294.3(BRCA1):c.1005C>A (p.Ser335Arg) 876660367 MedGen:C0027672,SNOMED CT:C0027672 17 43094526 43094526 G T 236151 deletion NM_007294.3(BRCA1):c.1002delC (p.Ser335Alafs) 876658404 MedGen:C0027672,SNOMED CT:C0027672 17 41246546 41246546 G - 236151 deletion NM_007294.3(BRCA1):c.1002delC (p.Ser335Alafs) 876658404 MedGen:C0027672,SNOMED CT:C0027672 17 43094529 43094529 G - 236152 single nucleotide variant NM_007294.3(BRCA1):c.982T>C (p.Cys328Arg) 748156170 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41246566 41246566 A G 236152 single nucleotide variant NM_007294.3(BRCA1):c.982T>C (p.Cys328Arg) 748156170 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43094549 43094549 A G 236153 single nucleotide variant NM_007294.3(BRCA1):c.914G>A (p.Cys305Tyr) 751124745 MedGen:C0027672,SNOMED CT:C0027672 17 41246634 41246634 C T 236153 single nucleotide variant NM_007294.3(BRCA1):c.914G>A (p.Cys305Tyr) 751124745 MedGen:C0027672,SNOMED CT:C0027672 17 43094617 43094617 C T 236154 single nucleotide variant NM_007294.3(BRCA1):c.884A>G (p.Asp295Gly) 772684048 MedGen:C0027672,SNOMED CT:C0027672 17 41246664 41246664 T C 236154 single nucleotide variant NM_007294.3(BRCA1):c.884A>G (p.Asp295Gly) 772684048 MedGen:C0027672,SNOMED CT:C0027672 17 43094647 43094647 T C 236155 single nucleotide variant NM_007294.3(BRCA1):c.739A>G (p.Asn247Asp) 767720128 MedGen:C0027672,SNOMED CT:C0027672 17 41246809 41246809 T C 236155 single nucleotide variant NM_007294.3(BRCA1):c.739A>G (p.Asn247Asp) 767720128 MedGen:C0027672,SNOMED CT:C0027672 17 43094792 43094792 T C 236156 single nucleotide variant NM_007294.3(BRCA1):c.716A>T (p.His239Leu) 80357396 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41246832 41246832 T A 236156 single nucleotide variant NM_007294.3(BRCA1):c.716A>T (p.His239Leu) 80357396 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43094815 43094815 T A 236157 single nucleotide variant NM_007294.3(BRCA1):c.655G>C (p.Asp219His) 273902779 MedGen:C0027672,SNOMED CT:C0027672 17 41247878 41247878 C G 236157 single nucleotide variant NM_007294.3(BRCA1):c.655G>C (p.Asp219His) 273902779 MedGen:C0027672,SNOMED CT:C0027672 17 43095861 43095861 C G 236158 single nucleotide variant NM_007294.3(BRCA1):c.533T>A (p.Val178Asp) 876660085 MedGen:C0027672,SNOMED CT:C0027672 17 41251806 41251806 A T 236158 single nucleotide variant NM_007294.3(BRCA1):c.533T>A (p.Val178Asp) 876660085 MedGen:C0027672,SNOMED CT:C0027672 17 43099789 43099789 A T 236159 single nucleotide variant NM_007294.3(BRCA1):c.519T>A (p.Pro173=) 876659179 MedGen:C0027672,SNOMED CT:C0027672 17 41251820 41251820 A T 236159 single nucleotide variant NM_007294.3(BRCA1):c.519T>A (p.Pro173=) 876659179 MedGen:C0027672,SNOMED CT:C0027672 17 43099803 43099803 A T 236160 single nucleotide variant NM_007294.3(BRCA1):c.482C>T (p.Thr161Ile) 876660138 MedGen:C0027672,SNOMED CT:C0027672 17 41251857 41251857 G A 236160 single nucleotide variant NM_007294.3(BRCA1):c.482C>T (p.Thr161Ile) 876660138 MedGen:C0027672,SNOMED CT:C0027672 17 43099840 43099840 G A 236161 single nucleotide variant NM_007294.3(BRCA1):c.478G>A (p.Gly160Arg) 62625285 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41251861 41251861 C T 236161 single nucleotide variant NM_007294.3(BRCA1):c.478G>A (p.Gly160Arg) 62625285 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43099844 43099844 C T 236162 single nucleotide variant NM_007294.3(BRCA1):c.466C>A (p.Leu156Ile) 587778115 MedGen:C0027672,SNOMED CT:C0027672 17 41251873 41251873 G T 236162 single nucleotide variant NM_007294.3(BRCA1):c.466C>A (p.Leu156Ile) 587778115 MedGen:C0027672,SNOMED CT:C0027672 17 43099856 43099856 G T 236163 single nucleotide variant NM_007294.3(BRCA1):c.465A>T (p.Gln155His) 864622260 MedGen:C0027672,SNOMED CT:C0027672 17 43099857 43099857 T A 236163 single nucleotide variant NM_007294.3(BRCA1):c.465A>T (p.Gln155His) 864622260 MedGen:C0027672,SNOMED CT:C0027672 17 41251874 41251874 T A 236164 deletion NM_007294.3(BRCA1):c.456delC (p.Ser153Valfs) 876659830 MedGen:C0027672,SNOMED CT:C0027672 17 43099866 43099866 G - 236164 deletion NM_007294.3(BRCA1):c.456delC (p.Ser153Valfs) 876659830 MedGen:C0027672,SNOMED CT:C0027672 17 41251883 41251883 G - 236165 single nucleotide variant NM_007294.3(BRCA1):c.445G>A (p.Glu149Lys) 876658381 MedGen:C0027672,SNOMED CT:C0027672 17 41251894 41251894 C T 236165 single nucleotide variant NM_007294.3(BRCA1):c.445G>A (p.Glu149Lys) 876658381 MedGen:C0027672,SNOMED CT:C0027672 17 43099877 43099877 C T 236166 single nucleotide variant NM_007294.3(BRCA1):c.442C>T (p.Gln148Ter) 876659614 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41251897 41251897 G A 236166 single nucleotide variant NM_007294.3(BRCA1):c.442C>T (p.Gln148Ter) 876659614 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43099880 43099880 G A 236167 single nucleotide variant NM_007294.3(BRCA1):c.442C>A (p.Gln148Lys) 876659614 MedGen:C0027672,SNOMED CT:C0027672 17 41251897 41251897 G T 236167 single nucleotide variant NM_007294.3(BRCA1):c.442C>A (p.Gln148Lys) 876659614 MedGen:C0027672,SNOMED CT:C0027672 17 43099880 43099880 G T 236168 single nucleotide variant NM_007294.3(BRCA1):c.439T>G (p.Leu147Val) 794727800 MedGen:C0027672,SNOMED CT:C0027672 17 41256141 41256141 A C 236168 single nucleotide variant NM_007294.3(BRCA1):c.439T>G (p.Leu147Val) 794727800 MedGen:C0027672,SNOMED CT:C0027672 17 43104124 43104124 A C 236169 single nucleotide variant NM_007294.3(BRCA1):c.427G>C (p.Glu143Gln) 80356991 MedGen:C0027672,SNOMED CT:C0027672 17 41256153 41256153 C G 236169 single nucleotide variant NM_007294.3(BRCA1):c.427G>C (p.Glu143Gln) 80356991 MedGen:C0027672,SNOMED CT:C0027672 17 43104136 43104136 C G 236170 single nucleotide variant NM_007294.3(BRCA1):c.352C>G (p.Leu118Val) 876659315 MedGen:C0027672,SNOMED CT:C0027672 17 41256228 41256228 G C 236170 single nucleotide variant NM_007294.3(BRCA1):c.352C>G (p.Leu118Val) 876659315 MedGen:C0027672,SNOMED CT:C0027672 17 43104211 43104211 G C 236171 single nucleotide variant NM_007294.3(BRCA1):c.344C>T (p.Pro115Leu) 876659528 MedGen:C0027672,SNOMED CT:C0027672 17 41256236 41256236 G A 236171 single nucleotide variant NM_007294.3(BRCA1):c.344C>T (p.Pro115Leu) 876659528 MedGen:C0027672,SNOMED CT:C0027672 17 43104219 43104219 G A 236172 single nucleotide variant NM_007294.3(BRCA1):c.309C>T (p.Asn103=) 876659814 MedGen:C0027672,SNOMED CT:C0027672 17 41256271 41256271 G A 236172 single nucleotide variant NM_007294.3(BRCA1):c.309C>T (p.Asn103=) 876659814 MedGen:C0027672,SNOMED CT:C0027672 17 43104254 43104254 G A 236173 single nucleotide variant NM_007294.3(BRCA1):c.302-5T>C 778668665 MedGen:C0027672,SNOMED CT:C0027672 17 41256283 41256283 A G 236173 single nucleotide variant NM_007294.3(BRCA1):c.302-5T>C 778668665 MedGen:C0027672,SNOMED CT:C0027672 17 43104266 43104266 A G 236174 single nucleotide variant NM_007294.3(BRCA1):c.255G>T (p.Glu85Asp) 756499058 MedGen:C0027672,SNOMED CT:C0027672 17 41256931 41256931 C A 236174 single nucleotide variant NM_007294.3(BRCA1):c.255G>T (p.Glu85Asp) 756499058 MedGen:C0027672,SNOMED CT:C0027672 17 43104914 43104914 C A 236175 deletion NM_007294.3(BRCA1):c.248_250delTTG (p.Val83del) 876660423 MedGen:C0027672,SNOMED CT:C0027672 17 41256936 41256938 CAA - 236175 deletion NM_007294.3(BRCA1):c.248_250delTTG (p.Val83del) 876660423 MedGen:C0027672,SNOMED CT:C0027672 17 43104919 43104921 CAA - 236176 single nucleotide variant NM_007294.3(BRCA1):c.222A>G (p.Gln74=) 730881465 MedGen:C0027672,SNOMED CT:C0027672 17 41256964 41256964 T C 236176 single nucleotide variant NM_007294.3(BRCA1):c.222A>G (p.Gln74=) 730881465 MedGen:C0027672,SNOMED CT:C0027672 17 43104947 43104947 T C 236177 single nucleotide variant NM_007294.3(BRCA1):c.219A>G (p.Leu73=) 876659123 MedGen:C0027672,SNOMED CT:C0027672 17 41256967 41256967 T C 236177 single nucleotide variant NM_007294.3(BRCA1):c.219A>G (p.Leu73=) 876659123 MedGen:C0027672,SNOMED CT:C0027672 17 43104950 43104950 T C 236178 single nucleotide variant NM_007294.3(BRCA1):c.132C>T (p.Cys44=) 876658362 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41267745 41267745 G A 236178 single nucleotide variant NM_007294.3(BRCA1):c.132C>T (p.Cys44=) 876658362 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43115728 43115728 G A 236179 single nucleotide variant NM_007294.3(BRCA1):c.122A>T (p.His41Leu) 80357276 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 41267755 41267755 T A 236179 single nucleotide variant NM_007294.3(BRCA1):c.122A>T (p.His41Leu) 80357276 MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:C0027672 17 43115738 43115738 T A 236180 single nucleotide variant NM_007294.3(BRCA1):c.98A>C (p.Glu33Ala) 876660844 MedGen:C0027672,SNOMED CT:C0027672 17 41267779 41267779 T G 236180 single nucleotide variant NM_007294.3(BRCA1):c.98A>C (p.Glu33Ala) 876660844 MedGen:C0027672,SNOMED CT:C0027672 17 43115762 43115762 T G 236181 single nucleotide variant NM_007294.3(BRCA1):c.86A>G (p.Glu29Gly) 773841328 MedGen:C0027672,SNOMED CT:C0027672 17 41267791 41267791 T C 236181 single nucleotide variant NM_007294.3(BRCA1):c.86A>G (p.Glu29Gly) 773841328 MedGen:C0027672,SNOMED CT:C0027672 17 43115774 43115774 T C 236182 single nucleotide variant NM_007294.3(BRCA1):c.74C>T (p.Pro25Leu) 876660096 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 41276040 41276040 G A 236182 single nucleotide variant NM_007294.3(BRCA1):c.74C>T (p.Pro25Leu) 876660096 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 17 43124023 43124023 G A 236183 single nucleotide variant NM_007294.3(BRCA1):c.69G>C (p.Glu23Asp) 766004110 MedGen:C0027672,SNOMED CT:C0027672 17 41276045 41276045 C G 236183 single nucleotide variant NM_007294.3(BRCA1):c.69G>C (p.Glu23Asp) 766004110 MedGen:C0027672,SNOMED CT:C0027672 17 43124028 43124028 C G 236184 single nucleotide variant NM_007294.3(BRCA1):c.36A>G (p.Gln12=) 763230080 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 41276078 41276078 T C 236184 single nucleotide variant NM_007294.3(BRCA1):c.36A>G (p.Gln12=) 763230080 MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:C0027672 17 43124061 43124061 T C 236185 single nucleotide variant NM_007294.3(BRCA1):c.10T>C (p.Ser4Pro) 876658707 MedGen:C0027672,SNOMED CT:C0027672 17 41276104 41276104 A G 236185 single nucleotide variant NM_007294.3(BRCA1):c.10T>C (p.Ser4Pro) 876658707 MedGen:C0027672,SNOMED CT:C0027672 17 43124087 43124087 A G 237827 deletion NM_007294.3(BRCA1):c.5496_5499delGGTG (p.Val1833Profs) 878853296 MedGen:C2676676,OMIM:604370 17 43045771 43045774 CACC - 237827 deletion NM_007294.3(BRCA1):c.5496_5499delGGTG (p.Val1833Profs) 878853296 MedGen:C2676676,OMIM:604370 17 41197788 41197791 CACC - 237828 indel NM_007294.3(BRCA1):c.5331_5332+1delinsCAACAT 878853286 MedGen:C2676676,OMIM:604370 17 43051062 43051064 CCT ATGTTG 237828 indel NM_007294.3(BRCA1):c.5331_5332+1delinsCAACAT 878853286 MedGen:C2676676,OMIM:604370 17 41203079 41203081 CCT ATGTTG 237829 deletion NM_007294.3(BRCA1):c.5278-2del 878853285 MedGen:C2676676,OMIM:604370 17 43051119 43051119 T - 237829 deletion NM_007294.3(BRCA1):c.5278-2del 878853285 MedGen:C2676676,OMIM:604370 17 41203136 41203136 T - 237830 deletion NM_007294.3(BRCA1):c.5181_5182delAA (p.Lys1727Asnfs) 878853295 MedGen:C2676676,OMIM:604370 17 43063344 43063345 TT - 237830 deletion NM_007294.3(BRCA1):c.5181_5182delAA (p.Lys1727Asnfs) 878853295 MedGen:C2676676,OMIM:604370 17 41215361 41215362 TT - 237831 single nucleotide variant NM_007294.3(BRCA1):c.4576G>T (p.Glu1526Ter) 878853294 MedGen:C2676676,OMIM:604370 17 43074430 43074430 C A 237831 single nucleotide variant NM_007294.3(BRCA1):c.4576G>T (p.Glu1526Ter) 878853294 MedGen:C2676676,OMIM:604370 17 41226447 41226447 C A 237832 deletion NM_007294.3(BRCA1):c.4570delT (p.Ser1524Leufs) 878853293 MedGen:C2676676,OMIM:604370 17 41226453 41226453 A - 237832 deletion NM_007294.3(BRCA1):c.4570delT (p.Ser1524Leufs) 878853293 MedGen:C2676676,OMIM:604370 17 43074436 43074436 A - 237833 duplication NM_007294.3(BRCA1):c.2933dupA (p.Tyr978Terfs) 878853292 MedGen:C2676676,OMIM:604370 17 43092598 43092598 T TT 237833 duplication NM_007294.3(BRCA1):c.2933dupA (p.Tyr978Terfs) 878853292 MedGen:C2676676,OMIM:604370 17 41244615 41244615 T TT 237834 duplication NM_007294.3(BRCA1):c.2805dupA (p.Asp936Argfs) 878853291 MedGen:C2676676,OMIM:604370 17 43092726 43092726 T TT 237834 duplication NM_007294.3(BRCA1):c.2805dupA (p.Asp936Argfs) 878853291 MedGen:C2676676,OMIM:604370 17 41244743 41244743 T TT 237835 insertion NM_007294.3(BRCA1):c.2562_2563insGC (p.Gln855Alafs) 878853290 MedGen:C2676676,OMIM:604370 17 41244985 41244986 - GC 237835 insertion NM_007294.3(BRCA1):c.2562_2563insGC (p.Gln855Alafs) 878853290 MedGen:C2676676,OMIM:604370 17 43092968 43092969 - GC 237836 insertion NM_007294.3(BRCA1):c.1881_1882insCC (p.Ser628Profs) 878853289 MedGen:C2676676,OMIM:604370 17 41245666 41245667 - GG 237836 insertion NM_007294.3(BRCA1):c.1881_1882insCC (p.Ser628Profs) 878853289 MedGen:C2676676,OMIM:604370 17 43093649 43093650 - GG 237837 single nucleotide variant NM_007294.3(BRCA1):c.1150G>T (p.Glu384Ter) 878853288 MedGen:C2676676,OMIM:604370 17 41246398 41246398 C A 237837 single nucleotide variant NM_007294.3(BRCA1):c.1150G>T (p.Glu384Ter) 878853288 MedGen:C2676676,OMIM:604370 17 43094381 43094381 C A 237838 single nucleotide variant NM_007294.3(BRCA1):c.441+2T>G 397509173 MedGen:C2676676,OMIM:604370 17 41256137 41256137 A C 237838 single nucleotide variant NM_007294.3(BRCA1):c.441+2T>G 397509173 MedGen:C2676676,OMIM:604370 17 43104120 43104120 A C 237839 duplication NM_007294.3(BRCA1):c.64_65dupTT (p.Leu22Phefs) 80357642 MedGen:C2676676,OMIM:604370 17 41276049 41276050 AA AAAA 237839 duplication NM_007294.3(BRCA1):c.64_65dupTT (p.Leu22Phefs) 80357642 MedGen:C2676676,OMIM:604370 17 43124032 43124033 AA AAAA 242753 single nucleotide variant NM_007294.3(BRCA1):c.*291C>T 878854928 MedGen:C0677776,Orphanet:ORPHA145 17 41197404 41197404 G A 242753 single nucleotide variant NM_007294.3(BRCA1):c.*291C>T 878854928 MedGen:C0677776,Orphanet:ORPHA145 17 43045387 43045387 G A 242754 single nucleotide variant NM_007294.3(BRCA1):c.*264C>T 371540942 MedGen:C0677776,Orphanet:ORPHA145 17 43045414 43045414 G A 242754 single nucleotide variant NM_007294.3(BRCA1):c.*264C>T 371540942 MedGen:C0677776,Orphanet:ORPHA145 17 41197431 41197431 G A 242755 single nucleotide variant NM_007294.3(BRCA1):c.5523T>C (p.Ser1841=) 878854960 MedGen:C0677776,Orphanet:ORPHA145 17 41197764 41197764 A G 242755 single nucleotide variant NM_007294.3(BRCA1):c.5523T>C (p.Ser1841=) 878854960 MedGen:C0677776,Orphanet:ORPHA145 17 43045747 43045747 A G 242756 single nucleotide variant NM_007294.3(BRCA1):c.5425G>A (p.Val1809Ile) 28897698 MedGen:C0677776,Orphanet:ORPHA145 17 43047685 43047685 C T 242756 single nucleotide variant NM_007294.3(BRCA1):c.5425G>A (p.Val1809Ile) 28897698 MedGen:C0677776,Orphanet:ORPHA145 17 41199702 41199702 C T 242757 single nucleotide variant NM_007294.3(BRCA1):c.5383C>T (p.Leu1795Phe) 878854958 MedGen:C0677776,Orphanet:ORPHA145 17 41201161 41201161 G A 242757 single nucleotide variant NM_007294.3(BRCA1):c.5383C>T (p.Leu1795Phe) 878854958 MedGen:C0677776,Orphanet:ORPHA145 17 43049144 43049144 G A 242758 single nucleotide variant NM_007294.3(BRCA1):c.5332+3A>G 766614917 MedGen:C0677776,Orphanet:ORPHA145 17 43051060 43051060 T C 242758 single nucleotide variant NM_007294.3(BRCA1):c.5332+3A>G 766614917 MedGen:C0677776,Orphanet:ORPHA145 17 41203077 41203077 T C 242759 single nucleotide variant NM_007294.3(BRCA1):c.5242G>C (p.Gly1748Arg) 397507245 MedGen:C0677776,Orphanet:ORPHA145 17 41209104 41209104 C G 242759 single nucleotide variant NM_007294.3(BRCA1):c.5242G>C (p.Gly1748Arg) 397507245 MedGen:C0677776,Orphanet:ORPHA145 17 43057087 43057087 C G 242760 single nucleotide variant NM_007294.3(BRCA1):c.5161C>G (p.Gln1721Glu) 878854957 MedGen:C0677776,Orphanet:ORPHA145 17 43063365 43063365 G C 242760 single nucleotide variant NM_007294.3(BRCA1):c.5161C>G (p.Gln1721Glu) 878854957 MedGen:C0677776,Orphanet:ORPHA145 17 41215382 41215382 G C 242761 single nucleotide variant NM_007294.3(BRCA1):c.5142T>G (p.Val1714=) 749319480 MedGen:C0677776,Orphanet:ORPHA145 17 43063884 43063884 A C 242761 single nucleotide variant NM_007294.3(BRCA1):c.5142T>G (p.Val1714=) 749319480 MedGen:C0677776,Orphanet:ORPHA145 17 41215901 41215901 A C 242762 single nucleotide variant NM_007294.3(BRCA1):c.5114T>G (p.Leu1705Arg) 397507242 MedGen:C0677776,Orphanet:ORPHA145 17 41215929 41215929 A C 242762 single nucleotide variant NM_007294.3(BRCA1):c.5114T>G (p.Leu1705Arg) 397507242 MedGen:C0677776,Orphanet:ORPHA145 17 43063912 43063912 A C 242763 single nucleotide variant NM_007294.3(BRCA1):c.5109T>C (p.Tyr1703=) 80356974 MedGen:C0677776,Orphanet:ORPHA145 17 41215934 41215934 A G 242763 single nucleotide variant NM_007294.3(BRCA1):c.5109T>C (p.Tyr1703=) 80356974 MedGen:C0677776,Orphanet:ORPHA145 17 43063917 43063917 A G 242764 single nucleotide variant NM_007294.3(BRCA1):c.5088G>A (p.Val1696=) 878854956 MedGen:C0677776,Orphanet:ORPHA145 17 41215955 41215955 C T 242764 single nucleotide variant NM_007294.3(BRCA1):c.5088G>A (p.Val1696=) 878854956 MedGen:C0677776,Orphanet:ORPHA145 17 43063938 43063938 C T 242765 single nucleotide variant NM_007294.3(BRCA1):c.5086G>T (p.Val1696Leu) 80357125 MedGen:C0677776,Orphanet:ORPHA145 17 43063940 43063940 C A 242765 single nucleotide variant NM_007294.3(BRCA1):c.5086G>T (p.Val1696Leu) 80357125 MedGen:C0677776,Orphanet:ORPHA145 17 41215957 41215957 C A 242766 single nucleotide variant NM_007294.3(BRCA1):c.5075-9A>G 80358059 MedGen:C0677776,Orphanet:ORPHA145 17 41215977 41215977 T C 242766 single nucleotide variant NM_007294.3(BRCA1):c.5075-9A>G 80358059 MedGen:C0677776,Orphanet:ORPHA145 17 43063960 43063960 T C 242767 single nucleotide variant NM_007294.3(BRCA1):c.5024C>T (p.Thr1675Ile) 150729791 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 41219675 41219675 G A 242767 single nucleotide variant NM_007294.3(BRCA1):c.5024C>T (p.Thr1675Ile) 150729791 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 43067658 43067658 G A 242768 single nucleotide variant NM_007294.3(BRCA1):c.4987-2A>C 397509212 MedGen:C0677776,Orphanet:ORPHA145 17 41219714 41219714 T G 242768 single nucleotide variant NM_007294.3(BRCA1):c.4987-2A>C 397509212 MedGen:C0677776,Orphanet:ORPHA145 17 43067697 43067697 T G 242769 single nucleotide variant NM_007294.3(BRCA1):c.4959G>A (p.Val1653=) 878854955 MedGen:C0677776,Orphanet:ORPHA145 17 43070955 43070955 C T 242769 single nucleotide variant NM_007294.3(BRCA1):c.4959G>A (p.Val1653=) 878854955 MedGen:C0677776,Orphanet:ORPHA145 17 41222972 41222972 C T 242770 single nucleotide variant NM_007294.3(BRCA1):c.4860T>C (p.Thr1620=) 750938749 MedGen:C0677776,Orphanet:ORPHA145 17 43071054 43071054 A G 242770 single nucleotide variant NM_007294.3(BRCA1):c.4860T>C (p.Thr1620=) 750938749 MedGen:C0677776,Orphanet:ORPHA145 17 41223071 41223071 A G 242771 single nucleotide variant NM_007294.3(BRCA1):c.4737T>C (p.Pro1579=) 878854954 MedGen:C0677776,Orphanet:ORPHA145 17 43071177 43071177 A G 242771 single nucleotide variant NM_007294.3(BRCA1):c.4737T>C (p.Pro1579=) 878854954 MedGen:C0677776,Orphanet:ORPHA145 17 41223194 41223194 A G 242772 single nucleotide variant NM_007294.3(BRCA1):c.4725T>G (p.Pro1575=) 878854953 MedGen:C0677776,Orphanet:ORPHA145 17 43071189 43071189 A C 242772 single nucleotide variant NM_007294.3(BRCA1):c.4725T>G (p.Pro1575=) 878854953 MedGen:C0677776,Orphanet:ORPHA145 17 41223206 41223206 A C 242773 single nucleotide variant NM_007294.3(BRCA1):c.4665G>A (p.Arg1555=) 878854952 MedGen:C0677776,Orphanet:ORPHA145 17 41226358 41226358 C T 242773 single nucleotide variant NM_007294.3(BRCA1):c.4665G>A (p.Arg1555=) 878854952 MedGen:C0677776,Orphanet:ORPHA145 17 43074341 43074341 C T 242774 single nucleotide variant NM_007294.3(BRCA1):c.4503C>T (p.Cys1501=) 747539984 MedGen:C0677776,Orphanet:ORPHA145 17 41226520 41226520 G A 242774 single nucleotide variant NM_007294.3(BRCA1):c.4503C>T (p.Cys1501=) 747539984 MedGen:C0677776,Orphanet:ORPHA145 17 43074503 43074503 G A 242775 single nucleotide variant NM_007294.3(BRCA1):c.4370C>A (p.Ser1457Ter) 80357130 MedGen:C0677776,Orphanet:ORPHA145 17 43076602 43076602 G T 242775 single nucleotide variant NM_007294.3(BRCA1):c.4370C>A (p.Ser1457Ter) 80357130 MedGen:C0677776,Orphanet:ORPHA145 17 41228619 41228619 G T 242776 single nucleotide variant NM_007294.3(BRCA1):c.4357+19A>C 772281432 MedGen:C0677776,Orphanet:ORPHA145 17 41234402 41234402 T G 242776 single nucleotide variant NM_007294.3(BRCA1):c.4357+19A>C 772281432 MedGen:C0677776,Orphanet:ORPHA145 17 43082385 43082385 T G 242777 single nucleotide variant NM_007294.3(BRCA1):c.4241T>C (p.Leu1414Pro) 878854951 MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 43082520 43082520 A G 242777 single nucleotide variant NM_007294.3(BRCA1):c.4241T>C (p.Leu1414Pro) 878854951 MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374 17 41234537 41234537 A G 242778 single nucleotide variant NM_007294.3(BRCA1):c.4205A>C (p.His1402Pro) 80356882 MedGen:C0677776,Orphanet:ORPHA145 17 41234573 41234573 T G 242778 single nucleotide variant NM_007294.3(BRCA1):c.4205A>C (p.His1402Pro) 80356882 MedGen:C0677776,Orphanet:ORPHA145 17 43082556 43082556 T G 242779 single nucleotide variant NM_007294.3(BRCA1):c.4186-2A>G 878854950 MedGen:C0677776,Orphanet:ORPHA145 17 41234594 41234594 T C 242779 single nucleotide variant NM_007294.3(BRCA1):c.4186-2A>G 878854950 MedGen:C0677776,Orphanet:ORPHA145 17 43082577 43082577 T C 242780 single nucleotide variant NM_007294.3(BRCA1):c.3893C>G (p.Ser1298Ter) 80357440 MedGen:C0677776,Orphanet:ORPHA145 17 41243655 41243655 G C 242780 single nucleotide variant NM_007294.3(BRCA1):c.3893C>G (p.Ser1298Ter) 80357440 MedGen:C0677776,Orphanet:ORPHA145 17 43091638 43091638 G C 242781 single nucleotide variant NM_007294.3(BRCA1):c.3737C>A (p.Thr1246Asn) 878854949 MedGen:C0677776,Orphanet:ORPHA145 17 41243811 41243811 G T 242781 single nucleotide variant NM_007294.3(BRCA1):c.3737C>A (p.Thr1246Asn) 878854949 MedGen:C0677776,Orphanet:ORPHA145 17 43091794 43091794 G T 242782 single nucleotide variant NM_007294.3(BRCA1):c.3685T>C (p.Leu1229=) 767958299 MedGen:C0677776,Orphanet:ORPHA145 17 43091846 43091846 A G 242782 single nucleotide variant NM_007294.3(BRCA1):c.3685T>C (p.Leu1229=) 767958299 MedGen:C0677776,Orphanet:ORPHA145 17 41243863 41243863 A G 242783 single nucleotide variant NM_007294.3(BRCA1):c.3572G>A (p.Ser1191Asn) 878854948 MedGen:C0677776,Orphanet:ORPHA145 17 41243976 41243976 C T 242783 single nucleotide variant NM_007294.3(BRCA1):c.3572G>A (p.Ser1191Asn) 878854948 MedGen:C0677776,Orphanet:ORPHA145 17 43091959 43091959 C T 242784 single nucleotide variant NM_007294.3(BRCA1):c.3518G>A (p.Ser1173Asn) 746949187 MedGen:C0677776,Orphanet:ORPHA145 17 41244030 41244030 C T 242784 single nucleotide variant NM_007294.3(BRCA1):c.3518G>A (p.Ser1173Asn) 746949187 MedGen:C0677776,Orphanet:ORPHA145 17 43092013 43092013 C T 242785 single nucleotide variant NM_007294.3(BRCA1):c.3403C>G (p.Gln1135Glu) 80357136 MedGen:C0677776,Orphanet:ORPHA145 17 41244145 41244145 G C 242785 single nucleotide variant NM_007294.3(BRCA1):c.3403C>G (p.Gln1135Glu) 80357136 MedGen:C0677776,Orphanet:ORPHA145 17 43092128 43092128 G C 242786 single nucleotide variant NM_007294.3(BRCA1):c.3217G>A (p.Gly1073Ser) 878854945 MedGen:C0677776,Orphanet:ORPHA145 17 41244331 41244331 C T 242786 single nucleotide variant NM_007294.3(BRCA1):c.3217G>A (p.Gly1073Ser) 878854945 MedGen:C0677776,Orphanet:ORPHA145 17 43092314 43092314 C T 242787 single nucleotide variant NM_007294.3(BRCA1):c.3126C>G (p.Ser1042Arg) 878854943 MedGen:C0677776,Orphanet:ORPHA145 17 43092405 43092405 G C 242787 single nucleotide variant NM_007294.3(BRCA1):c.3126C>G (p.Ser1042Arg) 878854943 MedGen:C0677776,Orphanet:ORPHA145 17 41244422 41244422 G C 242788 single nucleotide variant NM_007294.3(BRCA1):c.3113A>C (p.Glu1038Ala) 16941 MedGen:C0677776,Orphanet:ORPHA145 17 41244435 41244435 T G 242788 single nucleotide variant NM_007294.3(BRCA1):c.3113A>C (p.Glu1038Ala) 16941 MedGen:C0677776,Orphanet:ORPHA145 17 43092418 43092418 T G 242789 single nucleotide variant NM_007294.3(BRCA1):c.2959A>G (p.Lys987Glu) 878854941 MedGen:C0677776,Orphanet:ORPHA145 17 43092572 43092572 T C 242789 single nucleotide variant NM_007294.3(BRCA1):c.2959A>G (p.Lys987Glu) 878854941 MedGen:C0677776,Orphanet:ORPHA145 17 41244589 41244589 T C 242790 deletion NM_007294.3(BRCA1):c.2912_2913delAT (p.His971Argfs) 878854940 MedGen:C0677776,Orphanet:ORPHA145 17 41244635 41244636 AT - 242790 deletion NM_007294.3(BRCA1):c.2912_2913delAT (p.His971Argfs) 878854940 MedGen:C0677776,Orphanet:ORPHA145 17 43092618 43092619 AT - 242791 single nucleotide variant NM_007294.3(BRCA1):c.2258G>A (p.Ser753Asn) 878854939 MedGen:C0677776,Orphanet:ORPHA145 17 43093273 43093273 C T 242791 single nucleotide variant NM_007294.3(BRCA1):c.2258G>A (p.Ser753Asn) 878854939 MedGen:C0677776,Orphanet:ORPHA145 17 41245290 41245290 C T 242792 single nucleotide variant NM_007294.3(BRCA1):c.2245G>A (p.Asp749Asn) 80357114 MedGen:C0677776,Orphanet:ORPHA145 17 43093286 43093286 C T 242792 single nucleotide variant NM_007294.3(BRCA1):c.2245G>A (p.Asp749Asn) 80357114 MedGen:C0677776,Orphanet:ORPHA145 17 41245303 41245303 C T 242793 deletion NM_007294.3(BRCA1):c.2226_2227delTA (p.Asn742Lysfs) 878854938 MedGen:C0677776,Orphanet:ORPHA145 17 43093304 43093305 TA - 242793 deletion NM_007294.3(BRCA1):c.2226_2227delTA (p.Asn742Lysfs) 878854938 MedGen:C0677776,Orphanet:ORPHA145 17 41245321 41245322 TA - 242794 single nucleotide variant NM_007294.3(BRCA1):c.2001A>G (p.Gln667=) 878854937 MedGen:C0677776,Orphanet:ORPHA145 17 43093530 43093530 T C 242794 single nucleotide variant NM_007294.3(BRCA1):c.2001A>G (p.Gln667=) 878854937 MedGen:C0677776,Orphanet:ORPHA145 17 41245547 41245547 T C 242795 duplication NM_007294.3(BRCA1):c.1923dupT (p.Asp642Terfs) 878854935 MedGen:C0677776,Orphanet:ORPHA145 17 43093608 43093608 A AA 242795 duplication NM_007294.3(BRCA1):c.1923dupT (p.Asp642Terfs) 878854935 MedGen:C0677776,Orphanet:ORPHA145 17 41245625 41245625 A AA 242796 deletion NM_007294.3(BRCA1):c.1799delT (p.Ile600Thrfs) 878854934 MedGen:C0677776,Orphanet:ORPHA145 17 43093732 43093732 A - 242796 deletion NM_007294.3(BRCA1):c.1799delT (p.Ile600Thrfs) 878854934 MedGen:C0677776,Orphanet:ORPHA145 17 41245749 41245749 A - 242797 single nucleotide variant NM_007294.3(BRCA1):c.1704T>C (p.Pro568=) 587780795 MedGen:C0677776,Orphanet:ORPHA145 17 43093827 43093827 A G 242797 single nucleotide variant NM_007294.3(BRCA1):c.1704T>C (p.Pro568=) 587780795 MedGen:C0677776,Orphanet:ORPHA145 17 41245844 41245844 A G 242798 deletion NM_007294.3(BRCA1):c.1601_1602delAG (p.Gln534Argfs) 878854933 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43093929 43093930 CT - 242798 deletion NM_007294.3(BRCA1):c.1601_1602delAG (p.Gln534Argfs) 878854933 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41245946 41245947 CT - 242799 single nucleotide variant NM_007294.3(BRCA1):c.1355T>C (p.Val452Ala) 878854932 MedGen:C0677776,Orphanet:ORPHA145 17 43094176 43094176 A G 242799 single nucleotide variant NM_007294.3(BRCA1):c.1355T>C (p.Val452Ala) 878854932 MedGen:C0677776,Orphanet:ORPHA145 17 41246193 41246193 A G 242800 single nucleotide variant NM_007294.3(BRCA1):c.1155G>T (p.Trp385Cys) 876660558 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43094376 43094376 C A 242800 single nucleotide variant NM_007294.3(BRCA1):c.1155G>T (p.Trp385Cys) 876660558 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41246393 41246393 C A 242801 deletion NM_007294.3(BRCA1):c.1148delA (p.Asn383Metfs) 878854930 MedGen:C0677776,Orphanet:ORPHA145 17 41246400 41246400 T - 242801 deletion NM_007294.3(BRCA1):c.1148delA (p.Asn383Metfs) 878854930 MedGen:C0677776,Orphanet:ORPHA145 17 43094383 43094383 T - 242802 single nucleotide variant NM_007294.3(BRCA1):c.1099A>G (p.Thr367Ala) 878854929 MedGen:C0677776,Orphanet:ORPHA145 17 43094432 43094432 T C 242802 single nucleotide variant NM_007294.3(BRCA1):c.1099A>G (p.Thr367Ala) 878854929 MedGen:C0677776,Orphanet:ORPHA145 17 41246449 41246449 T C 242803 single nucleotide variant NM_007294.3(BRCA1):c.923G>A (p.Ser308Asn) 561998108 MedGen:C0677776,Orphanet:ORPHA145 17 43094608 43094608 C T 242803 single nucleotide variant NM_007294.3(BRCA1):c.923G>A (p.Ser308Asn) 561998108 MedGen:C0677776,Orphanet:ORPHA145 17 41246625 41246625 C T 242804 single nucleotide variant NM_007294.3(BRCA1):c.902A>G (p.Lys301Arg) 878854965 MedGen:C0677776,Orphanet:ORPHA145 17 41246646 41246646 T C 242804 single nucleotide variant NM_007294.3(BRCA1):c.902A>G (p.Lys301Arg) 878854965 MedGen:C0677776,Orphanet:ORPHA145 17 43094629 43094629 T C 242805 single nucleotide variant NM_007294.3(BRCA1):c.738G>A (p.Leu246=) 768416164 MedGen:C0677776,Orphanet:ORPHA145 17 41246810 41246810 C T 242805 single nucleotide variant NM_007294.3(BRCA1):c.738G>A (p.Leu246=) 768416164 MedGen:C0677776,Orphanet:ORPHA145 17 43094793 43094793 C T 242806 single nucleotide variant NM_007294.3(BRCA1):c.671-6T>G 878854964 MedGen:C0677776,Orphanet:ORPHA145 17 41246883 41246883 A C 242806 single nucleotide variant NM_007294.3(BRCA1):c.671-6T>G 878854964 MedGen:C0677776,Orphanet:ORPHA145 17 43094866 43094866 A C 242807 deletion NM_007294.3(BRCA1):c.649delA (p.Ser217Valfs) 878854963 MedGen:C0677776,Orphanet:ORPHA145 17 43095867 43095867 T - 242807 deletion NM_007294.3(BRCA1):c.649delA (p.Ser217Valfs) 878854963 MedGen:C0677776,Orphanet:ORPHA145 17 41247884 41247884 T - 242808 single nucleotide variant NM_007294.3(BRCA1):c.593+16C>T 773139281 MedGen:C0677776,Orphanet:ORPHA145 17 41249245 41249245 G A 242808 single nucleotide variant NM_007294.3(BRCA1):c.593+16C>T 773139281 MedGen:C0677776,Orphanet:ORPHA145 17 43097228 43097228 G A 242809 single nucleotide variant NM_007294.3(BRCA1):c.577A>G (p.Lys193Glu) 878854962 MedGen:C0677776,Orphanet:ORPHA145 17 43097260 43097260 T C 242809 single nucleotide variant NM_007294.3(BRCA1):c.577A>G (p.Lys193Glu) 878854962 MedGen:C0677776,Orphanet:ORPHA145 17 41249277 41249277 T C 242810 single nucleotide variant NM_007294.3(BRCA1):c.551C>T (p.Ser184Phe) 878854961 MedGen:C0677776,Orphanet:ORPHA145 17 43097286 43097286 G A 242810 single nucleotide variant NM_007294.3(BRCA1):c.551C>T (p.Ser184Phe) 878854961 MedGen:C0677776,Orphanet:ORPHA145 17 41249303 41249303 G A 242811 single nucleotide variant NM_007294.3(BRCA1):c.548-10A>T 878854959 MedGen:C0677776,Orphanet:ORPHA145 17 41249316 41249316 T A 242811 single nucleotide variant NM_007294.3(BRCA1):c.548-10A>T 878854959 MedGen:C0677776,Orphanet:ORPHA145 17 43097299 43097299 T A 242812 single nucleotide variant NM_007294.3(BRCA1):c.370A>C (p.Ile124Leu) 80357448 MedGen:C0677776,Orphanet:ORPHA145 17 43104193 43104193 T G 242812 single nucleotide variant NM_007294.3(BRCA1):c.370A>C (p.Ile124Leu) 80357448 MedGen:C0677776,Orphanet:ORPHA145 17 41256210 41256210 T G 242813 single nucleotide variant NM_007294.3(BRCA1):c.330G>A (p.Lys110=) 878854947 MedGen:C0677776,Orphanet:ORPHA145 17 43104233 43104233 C T 242813 single nucleotide variant NM_007294.3(BRCA1):c.330G>A (p.Lys110=) 878854947 MedGen:C0677776,Orphanet:ORPHA145 17 41256250 41256250 C T 242814 single nucleotide variant NM_007294.3(BRCA1):c.328A>G (p.Lys110Glu) 878854946 MedGen:C0677776,Orphanet:ORPHA145 17 41256252 41256252 T C 242814 single nucleotide variant NM_007294.3(BRCA1):c.328A>G (p.Lys110Glu) 878854946 MedGen:C0677776,Orphanet:ORPHA145 17 43104235 43104235 T C 242815 single nucleotide variant NM_007294.3(BRCA1):c.319T>A (p.Phe107Ile) 878854944 MedGen:C0677776,Orphanet:ORPHA145 17 43104244 43104244 A T 242815 single nucleotide variant NM_007294.3(BRCA1):c.319T>A (p.Phe107Ile) 878854944 MedGen:C0677776,Orphanet:ORPHA145 17 41256261 41256261 A T 242816 single nucleotide variant NM_007294.3(BRCA1):c.302-8T>G 878854942 MedGen:C0677776,Orphanet:ORPHA145 17 43104269 43104269 A C 242816 single nucleotide variant NM_007294.3(BRCA1):c.302-8T>G 878854942 MedGen:C0677776,Orphanet:ORPHA145 17 41256286 41256286 A C 242817 single nucleotide variant NM_007294.3(BRCA1):c.198T>C (p.Asn66=) 878854936 MedGen:C0677776,Orphanet:ORPHA145 17 41258487 41258487 A G 242817 single nucleotide variant NM_007294.3(BRCA1):c.198T>C (p.Asn66=) 878854936 MedGen:C0677776,Orphanet:ORPHA145 17 43106470 43106470 A G 242818 deletion NM_007294.3(BRCA1):c.135-15_135-12delCTTT 878854931 MedGen:C0677776,Orphanet:ORPHA145 17 41258562 41258565 AAAG - 242818 deletion NM_007294.3(BRCA1):c.135-15_135-12delCTTT 878854931 MedGen:C0677776,Orphanet:ORPHA145 17 43106545 43106548 AAAG - 245017 single nucleotide variant NM_007294.3(BRCA1):c.5571G>T (p.Gln1857His) 28897699 MedGen:CN169374 17 41197716 41197716 C A 245017 single nucleotide variant NM_007294.3(BRCA1):c.5571G>T (p.Gln1857His) 28897699 MedGen:CN169374 17 43045699 43045699 C A 245018 deletion NM_007294.3(BRCA1):c.5368delT (p.Ser1790Leufs) 879254116 MedGen:CN221809 17 41201176 41201176 A - 245018 deletion NM_007294.3(BRCA1):c.5368delT (p.Ser1790Leufs) 879254116 MedGen:CN221809 17 43049159 43049159 A - 245019 single nucleotide variant NM_007294.3(BRCA1):c.5327C>A (p.Pro1776His) 398122695 MedGen:CN169374 17 41203085 41203085 G T 245019 single nucleotide variant NM_007294.3(BRCA1):c.5327C>A (p.Pro1776His) 398122695 MedGen:CN169374 17 43051068 43051068 G T 245020 deletion NM_007294.3(BRCA1):c.5249delA (p.Lys1750Serfs) 879253993 MedGen:CN221809 17 41209097 41209097 T - 245020 deletion NM_007294.3(BRCA1):c.5249delA (p.Lys1750Serfs) 879253993 MedGen:CN221809 17 43057080 43057080 T - 245021 single nucleotide variant NM_007294.3(BRCA1):c.5172A>C (p.Lys1724Asn) 879254150 MedGen:CN169374 17 41215371 41215371 T G 245021 single nucleotide variant NM_007294.3(BRCA1):c.5172A>C (p.Lys1724Asn) 879254150 MedGen:CN169374 17 43063354 43063354 T G 245022 single nucleotide variant NM_007294.3(BRCA1):c.5155G>T (p.Val1719Leu) 749465132 MedGen:CN169374 17 41215388 41215388 C A 245022 single nucleotide variant NM_007294.3(BRCA1):c.5155G>T (p.Val1719Leu) 749465132 MedGen:CN169374 17 43063371 43063371 C A 245023 duplication NM_007294.3(BRCA1):c.5054_5057dupCTCA (p.Val1687Serfs) 879254050 MedGen:CN221809 17 41219642 41219645 TGAG TGAGTGAG 245023 duplication NM_007294.3(BRCA1):c.5054_5057dupCTCA (p.Val1687Serfs) 879254050 MedGen:CN221809 17 43067625 43067628 TGAG TGAGTGAG 245024 single nucleotide variant NM_007294.3(BRCA1):c.4986+4A>G 80358087 MedGen:CN221809 17 41222941 41222941 T C 245024 single nucleotide variant NM_007294.3(BRCA1):c.4986+4A>G 80358087 MedGen:CN221809 17 43070924 43070924 T C 245025 single nucleotide variant NM_007294.3(BRCA1):c.4951T>C (p.Ser1651Pro) 879254042 MedGen:CN169374 17 41222980 41222980 A G 245025 single nucleotide variant NM_007294.3(BRCA1):c.4951T>C (p.Ser1651Pro) 879254042 MedGen:CN169374 17 43070963 43070963 A G 245026 single nucleotide variant NM_007294.3(BRCA1):c.4852C>A (p.His1618Asn) 755920262 MedGen:CN169374 17 41223079 41223079 G T 245026 single nucleotide variant NM_007294.3(BRCA1):c.4852C>A (p.His1618Asn) 755920262 MedGen:CN169374 17 43071062 43071062 G T 245027 single nucleotide variant NM_007294.3(BRCA1):c.4682C>A (p.Thr1561Asn) 56158747 MedGen:CN169374 17 41223249 41223249 G T 245027 single nucleotide variant NM_007294.3(BRCA1):c.4682C>A (p.Thr1561Asn) 56158747 MedGen:CN169374 17 43071232 43071232 G T 245028 single nucleotide variant NM_007294.3(BRCA1):c.4485-1G>T 80358189 MedGen:C2676676,OMIM:604370;MedGen:CN221809 17 41226539 41226539 C A 245039 single nucleotide variant NM_007294.3(BRCA1):c.2897T>C (p.Ile966Thr) 879254045 MedGen:CN169374 17 41244651 41244651 A G 245028 single nucleotide variant NM_007294.3(BRCA1):c.4485-1G>T 80358189 MedGen:C2676676,OMIM:604370;MedGen:CN221809 17 43074522 43074522 C A 245029 single nucleotide variant NM_007294.3(BRCA1):c.4484G>C (p.Arg1495Thr) 80357389 MedGen:C2676676,OMIM:604370;MedGen:CN221809 17 41228505 41228505 C G 245029 single nucleotide variant NM_007294.3(BRCA1):c.4484G>C (p.Arg1495Thr) 80357389 MedGen:C2676676,OMIM:604370;MedGen:CN221809 17 43076488 43076488 C G 245030 single nucleotide variant NM_007294.3(BRCA1):c.4253T>C (p.Leu1418Ser) 397509157 MedGen:CN169374 17 41234525 41234525 A G 245030 single nucleotide variant NM_007294.3(BRCA1):c.4253T>C (p.Leu1418Ser) 397509157 MedGen:CN169374 17 43082508 43082508 A G 245031 single nucleotide variant NM_007294.3(BRCA1):c.4241T>G (p.Leu1414Arg) 878854951 MedGen:CN169374 17 41234537 41234537 A C 245031 single nucleotide variant NM_007294.3(BRCA1):c.4241T>G (p.Leu1414Arg) 878854951 MedGen:CN169374 17 43082520 43082520 A C 245032 single nucleotide variant NM_007294.3(BRCA1):c.4099G>A (p.Glu1367Lys) 786202998 MedGen:CN169374 17 41243047 41243047 C T 245032 single nucleotide variant NM_007294.3(BRCA1):c.4099G>A (p.Glu1367Lys) 786202998 MedGen:CN169374 17 43091030 43091030 C T 245033 single nucleotide variant NM_007294.3(BRCA1):c.4055A>T (p.Glu1352Val) 879254228 MedGen:CN169374 17 41243493 41243493 T A 245033 single nucleotide variant NM_007294.3(BRCA1):c.4055A>T (p.Glu1352Val) 879254228 MedGen:CN169374 17 43091476 43091476 T A 245034 single nucleotide variant NM_007294.3(BRCA1):c.3893C>T (p.Ser1298Leu) 80357440 MedGen:CN169374 17 41243655 41243655 G A 245034 single nucleotide variant NM_007294.3(BRCA1):c.3893C>T (p.Ser1298Leu) 80357440 MedGen:CN169374 17 43091638 43091638 G A 245035 single nucleotide variant NM_007294.3(BRCA1):c.3752G>A (p.Cys1251Tyr) 879254079 MedGen:CN169374 17 41243796 41243796 C T 245035 single nucleotide variant NM_007294.3(BRCA1):c.3752G>A (p.Cys1251Tyr) 879254079 MedGen:CN169374 17 43091779 43091779 C T 245036 single nucleotide variant NM_007294.3(BRCA1):c.3675C>A (p.Cys1225Ter) 879254023 MedGen:C2676676,OMIM:604370;MedGen:CN221809 17 41243873 41243873 G T 245036 single nucleotide variant NM_007294.3(BRCA1):c.3675C>A (p.Cys1225Ter) 879254023 MedGen:C2676676,OMIM:604370;MedGen:CN221809 17 43091856 43091856 G T 245037 single nucleotide variant NM_007294.3(BRCA1):c.3250C>A (p.Leu1084Ile) 879254009 MedGen:CN169374 17 41244298 41244298 G T 245037 single nucleotide variant NM_007294.3(BRCA1):c.3250C>A (p.Leu1084Ile) 879254009 MedGen:CN169374 17 43092281 43092281 G T 245038 single nucleotide variant NM_007294.3(BRCA1):c.3206A>C (p.Gln1069Pro) 879254151 MedGen:CN169374 17 41244342 41244342 T G 245038 single nucleotide variant NM_007294.3(BRCA1):c.3206A>C (p.Gln1069Pro) 879254151 MedGen:CN169374 17 43092325 43092325 T G 245039 single nucleotide variant NM_007294.3(BRCA1):c.2897T>C (p.Ile966Thr) 879254045 MedGen:CN169374 17 43092634 43092634 A G 245040 single nucleotide variant NM_007294.3(BRCA1):c.2890G>A (p.Gly964Arg) 879254027 MedGen:CN169374 17 41244658 41244658 C T 245040 single nucleotide variant NM_007294.3(BRCA1):c.2890G>A (p.Gly964Arg) 879254027 MedGen:CN169374 17 43092641 43092641 C T 245041 single nucleotide variant NM_007294.3(BRCA1):c.2882A>G (p.Asn961Ser) 879254130 MedGen:CN169374 17 41244666 41244666 T C 245041 single nucleotide variant NM_007294.3(BRCA1):c.2882A>G (p.Asn961Ser) 879254130 MedGen:CN169374 17 43092649 43092649 T C 245042 single nucleotide variant NM_007294.3(BRCA1):c.2865A>T (p.Ser955=) 748285767 MedGen:CN169374 17 41244683 41244683 T A 245042 single nucleotide variant NM_007294.3(BRCA1):c.2865A>T (p.Ser955=) 748285767 MedGen:CN169374 17 43092666 43092666 T A 245043 duplication NM_007294.3(BRCA1):c.2693_2694dupAA (p.Val899Lysfs) 397509000 MedGen:CN221809 17 41244854 41244855 TT TTTT 245043 duplication NM_007294.3(BRCA1):c.2693_2694dupAA (p.Val899Lysfs) 397509000 MedGen:CN221809 17 43092837 43092838 TT TTTT 245044 single nucleotide variant NM_007294.3(BRCA1):c.2644T>A (p.Cys882Ser) 184374817 MedGen:CN169374 17 41244904 41244904 A T 245044 single nucleotide variant NM_007294.3(BRCA1):c.2644T>A (p.Cys882Ser) 184374817 MedGen:CN169374 17 43092887 43092887 A T 245045 deletion NM_007294.3(BRCA1):c.2018_2023delAACCTG (p.Glu673_Pro674del) 879254165 MedGen:CN169374 17 43093508 43093513 CAGGTT - 245045 deletion NM_007294.3(BRCA1):c.2018_2023delAACCTG (p.Glu673_Pro674del) 879254165 MedGen:CN169374 17 41245525 41245530 CAGGTT - 245046 deletion NM_007294.3(BRCA1):c.1763_1764delGC (p.Ser588Lysfs) 879254237 MedGen:CN169374 17 41245784 41245785 GC - 245046 deletion NM_007294.3(BRCA1):c.1763_1764delGC (p.Ser588Lysfs) 879254237 MedGen:CN169374 17 43093767 43093768 GC - 245047 single nucleotide variant NM_007294.3(BRCA1):c.1709C>A (p.Pro570Gln) 879254020 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 41245839 41245839 G T 245047 single nucleotide variant NM_007294.3(BRCA1):c.1709C>A (p.Pro570Gln) 879254020 MedGen:C2676676,OMIM:604370;MedGen:CN169374 17 43093822 43093822 G T 245048 single nucleotide variant NM_007294.3(BRCA1):c.1574T>C (p.Val525Ala) 879253902 MedGen:CN169374 17 43093957 43093957 A G 245048 single nucleotide variant NM_007294.3(BRCA1):c.1574T>C (p.Val525Ala) 879253902 MedGen:CN169374 17 41245974 41245974 A G 245049 single nucleotide variant NM_007294.3(BRCA1):c.1514A>G (p.Lys505Arg) 879254266 MedGen:CN169374 17 41246034 41246034 T C 245049 single nucleotide variant NM_007294.3(BRCA1):c.1514A>G (p.Lys505Arg) 879254266 MedGen:CN169374 17 43094017 43094017 T C 245050 single nucleotide variant NM_007294.3(BRCA1):c.1374C>A (p.Asp458Glu) 879253999 MedGen:CN169374 17 41246174 41246174 G T 245050 single nucleotide variant NM_007294.3(BRCA1):c.1374C>A (p.Asp458Glu) 879253999 MedGen:CN169374 17 43094157 43094157 G T 245051 single nucleotide variant NM_007294.3(BRCA1):c.1228G>A (p.Ala410Thr) 779974365 MedGen:CN169374 17 41246320 41246320 C T 245051 single nucleotide variant NM_007294.3(BRCA1):c.1228G>A (p.Ala410Thr) 779974365 MedGen:CN169374 17 43094303 43094303 C T 245052 single nucleotide variant NM_007294.3(BRCA1):c.548-15G>A 755221482 MedGen:CN169374 17 41249321 41249321 C T 245052 single nucleotide variant NM_007294.3(BRCA1):c.548-15G>A 755221482 MedGen:CN169374 17 43097304 43097304 C T 245053 deletion NM_007294.3(BRCA1):c.516delA (p.Gln172Hisfs) 879254223 MedGen:CN221809 17 41251823 41251823 T - 245053 deletion NM_007294.3(BRCA1):c.516delA (p.Gln172Hisfs) 879254223 MedGen:CN221809 17 43099806 43099806 T - 245054 deletion NM_007294.3(BRCA1):c.442-22_442-13delTGTTCTTTAC 879254224 MedGen:CN169374 17 43099893 43099902 GTAAAGAACA - 245054 deletion NM_007294.3(BRCA1):c.442-22_442-13delTGTTCTTTAC 879254224 MedGen:CN169374 17 41251910 41251919 GTAAAGAACA - 245055 single nucleotide variant NM_007294.3(BRCA1):c.301+1G>T 587782173 MedGen:CN221809 17 41256884 41256884 C A 245055 single nucleotide variant NM_007294.3(BRCA1):c.301+1G>T 587782173 MedGen:CN221809 17 43104867 43104867 C A 245056 single nucleotide variant NM_007294.3(BRCA1):c.135-1G>A 80358158 MedGen:CN221809 17 41258551 41258551 C T 245056 single nucleotide variant NM_007294.3(BRCA1):c.135-1G>A 80358158 MedGen:CN221809 17 43106534 43106534 C T 245057 single nucleotide variant NM_007294.3(BRCA1):c.32T>G (p.Val11Gly) 80357017 MedGen:CN169374 17 41276082 41276082 A C 245057 single nucleotide variant NM_007294.3(BRCA1):c.32T>G (p.Val11Gly) 80357017 MedGen:CN169374 17 43124065 43124065 A C 245058 single nucleotide variant NM_007294.3(BRCA1):c.22G>A (p.Val8Ile) 528902306 MedGen:CN169374 17 41276092 41276092 C T 245058 single nucleotide variant NM_007294.3(BRCA1):c.22G>A (p.Val8Ile) 528902306 MedGen:CN169374 17 43124075 43124075 C T 245059 indel NM_007294.3(BRCA1):c.-19-17_-19-13delTTTCTinsAA 879254184 MedGen:CN169374 17 41276145 41276149 AGAAA TT 245059 indel NM_007294.3(BRCA1):c.-19-17_-19-13delTTTCTinsAA 879254184 MedGen:CN169374 17 43124128 43124132 AGAAA TT 246808 deletion NM_007294.3(BRCA1):c.5524_5531delGTAGCACT (p.Val1842Leufs) 879255287 MedGen:C2676676,OMIM:604370 17 41197756 41197763 AGTGCTAC - 246808 deletion NM_007294.3(BRCA1):c.5524_5531delGTAGCACT (p.Val1842Leufs) 879255287 MedGen:C2676676,OMIM:604370 17 43045739 43045746 AGTGCTAC - 246809 single nucleotide variant NM_007294.3(BRCA1):c.5329A>T (p.Thr1777Ser) 879255296 MedGen:C2676676,OMIM:604370 17 41203083 41203083 T A 246809 single nucleotide variant NM_007294.3(BRCA1):c.5329A>T (p.Thr1777Ser) 879255296 MedGen:C2676676,OMIM:604370 17 43051066 43051066 T A 246810 single nucleotide variant NM_007294.3(BRCA1):c.5075-2A>G 80358066 MedGen:C2676676,OMIM:604370 17 43063953 43063953 T C 246810 single nucleotide variant NM_007294.3(BRCA1):c.5075-2A>G 80358066 MedGen:C2676676,OMIM:604370 17 41215970 41215970 T C 246811 deletion NM_007294.3(BRCA1):c.5050_5051delAC (p.Thr1684Tyrfs) 879255283 MedGen:C2676676,OMIM:604370 17 43067631 43067632 GT - 246811 deletion NM_007294.3(BRCA1):c.5050_5051delAC (p.Thr1684Tyrfs) 879255283 MedGen:C2676676,OMIM:604370 17 41219648 41219649 GT - 246812 deletion NM_007294.3(BRCA1):c.4976delC (p.Pro1659Glnfs) 879255295 MedGen:C2676676,OMIM:604370 17 43070938 43070938 G - 246812 deletion NM_007294.3(BRCA1):c.4976delC (p.Pro1659Glnfs) 879255295 MedGen:C2676676,OMIM:604370 17 41222955 41222955 G - 246813 single nucleotide variant NM_007294.3(BRCA1):c.4675+2T>G 879255293 MedGen:C2676676,OMIM:604370 17 43074329 43074329 A C 246813 single nucleotide variant NM_007294.3(BRCA1):c.4675+2T>G 879255293 MedGen:C2676676,OMIM:604370 17 41226346 41226346 A C 246814 duplication NM_007294.3(BRCA1):c.4485-6_4485-2dup 879255292 MedGen:C2676676,OMIM:604370 17 43074523 43074527 TAGAA TAGAATAGAA 246814 duplication NM_007294.3(BRCA1):c.4485-6_4485-2dup 879255292 MedGen:C2676676,OMIM:604370 17 41226540 41226544 TAGAA TAGAATAGAA 246815 single nucleotide variant NM_007294.3(BRCA1):c.4484+6A>C 879255297 MedGen:C2676676,OMIM:604370 17 43076482 43076482 T G 246815 single nucleotide variant NM_007294.3(BRCA1):c.4484+6A>C 879255297 MedGen:C2676676,OMIM:604370 17 41228499 41228499 T G 246816 single nucleotide variant NM_007294.3(BRCA1):c.4458T>G (p.Ser1486Arg) 879255285 MedGen:C2676676,OMIM:604370 17 43076514 43076514 A C 246816 single nucleotide variant NM_007294.3(BRCA1):c.4458T>G (p.Ser1486Arg) 879255285 MedGen:C2676676,OMIM:604370 17 41228531 41228531 A C 246817 duplication NM_007294.3(BRCA1):c.4389_4392dupCCCT (p.Ile1465Profs) 879255282 MedGen:C2676676,OMIM:604370 17 43076580 43076583 AGGG AGGGAGGG 246817 duplication NM_007294.3(BRCA1):c.4389_4392dupCCCT (p.Ile1465Profs) 879255282 MedGen:C2676676,OMIM:604370 17 41228597 41228600 AGGG AGGGAGGG 246818 single nucleotide variant NM_007294.3(BRCA1):c.4273C>G (p.Pro1425Ala) 768327850 MedGen:C2676676,OMIM:604370 17 43082488 43082488 G C 246818 single nucleotide variant NM_007294.3(BRCA1):c.4273C>G (p.Pro1425Ala) 768327850 MedGen:C2676676,OMIM:604370 17 41234505 41234505 G C 246819 single nucleotide variant NM_007294.3(BRCA1):c.3292C>T (p.Leu1098Phe) 879255291 MedGen:C2676676,OMIM:604370 17 41244256 41244256 G A 246819 single nucleotide variant NM_007294.3(BRCA1):c.3292C>T (p.Leu1098Phe) 879255291 MedGen:C2676676,OMIM:604370 17 43092239 43092239 G A 246820 deletion NM_007294.3(BRCA1):c.2418delA (p.Ala807Hisfs) 879255281 MedGen:C2676676,OMIM:604370 17 41245130 41245130 T - 246820 deletion NM_007294.3(BRCA1):c.2418delA (p.Ala807Hisfs) 879255281 MedGen:C2676676,OMIM:604370 17 43093113 43093113 T - 246821 duplication NM_007294.3(BRCA1):c.2331_2332dupTG (p.Gly778Valfs) 431825390 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093199 43093200 CA CACA 246821 duplication NM_007294.3(BRCA1):c.2331_2332dupTG (p.Gly778Valfs) 431825390 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245216 41245217 CA CACA 246822 single nucleotide variant NM_007294.3(BRCA1):c.1842G>T (p.Lys614Asn) 760109939 MedGen:C2676676,OMIM:604370 17 43093689 43093689 C A 246822 single nucleotide variant NM_007294.3(BRCA1):c.1842G>T (p.Lys614Asn) 760109939 MedGen:C2676676,OMIM:604370 17 41245706 41245706 C A 246823 single nucleotide variant NM_007294.3(BRCA1):c.1075C>T (p.Pro359Ser) 767666190 MedGen:C2676676,OMIM:604370 17 43094456 43094456 G A 246823 single nucleotide variant NM_007294.3(BRCA1):c.1075C>T (p.Pro359Ser) 767666190 MedGen:C2676676,OMIM:604370 17 41246473 41246473 G A 246824 single nucleotide variant NM_007294.3(BRCA1):c.812T>G (p.Val271Gly) 753099787 MedGen:C2676676,OMIM:604370 17 43094719 43094719 A C 246824 single nucleotide variant NM_007294.3(BRCA1):c.812T>G (p.Val271Gly) 753099787 MedGen:C2676676,OMIM:604370 17 41246736 41246736 A C 246825 single nucleotide variant NM_007294.3(BRCA1):c.742A>C (p.Thr248Pro) 879255288 MedGen:C2676676,OMIM:604370 17 41246806 41246806 T G 246825 single nucleotide variant NM_007294.3(BRCA1):c.742A>C (p.Thr248Pro) 879255288 MedGen:C2676676,OMIM:604370 17 43094789 43094789 T G 246826 deletion NM_007294.3(BRCA1):c.715delC (p.His239Ilefs) 879255294 MedGen:C2676676,OMIM:604370 17 41246833 41246833 G - 246826 deletion NM_007294.3(BRCA1):c.715delC (p.His239Ilefs) 879255294 MedGen:C2676676,OMIM:604370 17 43094816 43094816 G - 246827 deletion NM_007294.3(BRCA1):c.346delG (p.Glu116Asnfs) 762635795 MedGen:C2676676,OMIM:604370 17 43104217 43104217 C - 246827 deletion NM_007294.3(BRCA1):c.346delG (p.Glu116Asnfs) 762635795 MedGen:C2676676,OMIM:604370 17 41256234 41256234 C - 246828 single nucleotide variant NM_007294.3(BRCA1):c.302-7T>A 879255286 MedGen:C2676676,OMIM:604370 17 41256285 41256285 A T 246828 single nucleotide variant NM_007294.3(BRCA1):c.302-7T>A 879255286 MedGen:C2676676,OMIM:604370 17 43104268 43104268 A T 246829 single nucleotide variant NM_007294.3(BRCA1):c.172C>T (p.Pro58Ser) 397508904 MedGen:C2676676,OMIM:604370 17 41258513 41258513 G A 246829 single nucleotide variant NM_007294.3(BRCA1):c.172C>T (p.Pro58Ser) 397508904 MedGen:C2676676,OMIM:604370 17 43106496 43106496 G A 246830 single nucleotide variant NM_007294.3(BRCA1):c.169G>C (p.Gly57Arg) 879255289 MedGen:C2676676,OMIM:604370 17 41258516 41258516 C G 246830 single nucleotide variant NM_007294.3(BRCA1):c.169G>C (p.Gly57Arg) 879255289 MedGen:C2676676,OMIM:604370 17 43106499 43106499 C G 246831 single nucleotide variant NM_007294.3(BRCA1):c.118G>A (p.Asp40Asn) 879255290 MedGen:C2676676,OMIM:604370 17 41267759 41267759 C T 246831 single nucleotide variant NM_007294.3(BRCA1):c.118G>A (p.Asp40Asn) 879255290 MedGen:C2676676,OMIM:604370 17 43115742 43115742 C T 246832 single nucleotide variant NM_007294.3(BRCA1):c.103G>T (p.Val35Phe) 879255284 MedGen:C2676676,OMIM:604370 17 43115757 43115757 C A 246832 single nucleotide variant NM_007294.3(BRCA1):c.103G>T (p.Val35Phe) 879255284 MedGen:C2676676,OMIM:604370 17 41267774 41267774 C A 246846 duplication NM_007294.3(BRCA1):c.4698_4704dupTGGAATC (p.Ser1569Trpfs) 879255318 MedGen:CN169374 17 41223227 41223233 GATTCCA GATTCCAGATTCCA 246846 duplication NM_007294.3(BRCA1):c.4698_4704dupTGGAATC (p.Ser1569Trpfs) 879255318 MedGen:CN169374 17 43071210 43071216 GATTCCA GATTCCAGATTCCA 246847 deletion NM_007294.3(BRCA1):c.4372_4373delCA (p.Gln1458Glufs) 879255317 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43076599 43076600 TG - 246847 deletion NM_007294.3(BRCA1):c.4372_4373delCA (p.Gln1458Glufs) 879255317 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41228616 41228617 TG - 246848 deletion NM_007294.3(BRCA1):c.3132delT (p.Asn1045Metfs) 879255316 MedGen:CN169374 17 43092399 43092399 A - 246848 deletion NM_007294.3(BRCA1):c.3132delT (p.Asn1045Metfs) 879255316 MedGen:CN169374 17 41244416 41244416 A - 246849 single nucleotide variant NM_007294.3(BRCA1):c.2983A>T (p.Lys995Ter) 879255315 MedGen:CN169374 17 41244565 41244565 T A 246849 single nucleotide variant NM_007294.3(BRCA1):c.2983A>T (p.Lys995Ter) 879255315 MedGen:CN169374 17 43092548 43092548 T A 246850 deletion NM_007294.3(BRCA1):c.1622_1626delAGAAT (p.Gln541Argfs) 879255314 MedGen:CN169374 17 41245922 41245926 ATTCT - 246850 deletion NM_007294.3(BRCA1):c.1622_1626delAGAAT (p.Gln541Argfs) 879255314 MedGen:CN169374 17 43093905 43093909 ATTCT - 246851 deletion NM_007294.3(BRCA1):c.1224delA (p.Val409Terfs) 879255320 MedGen:CN169374 17 41246324 41246324 T - 246851 deletion NM_007294.3(BRCA1):c.1224delA (p.Val409Terfs) 879255320 MedGen:CN169374 17 43094307 43094307 T - 246852 deletion NM_007294.3(BRCA1):c.1142_1143delAA (p.Lys381Serfs) 879255313 MedGen:CN169374 17 41246405 41246406 TT - 246852 deletion NM_007294.3(BRCA1):c.1142_1143delAA (p.Lys381Serfs) 879255313 MedGen:CN169374 17 43094388 43094389 TT - 246853 single nucleotide variant NM_007294.3(BRCA1):c.679G>T (p.Glu227Ter) 879255319 MedGen:CN169374 17 41246869 41246869 C A 246853 single nucleotide variant NM_007294.3(BRCA1):c.679G>T (p.Glu227Ter) 879255319 MedGen:CN169374 17 43094852 43094852 C A 246854 single nucleotide variant NM_007294.3(BRCA1):c.65T>A (p.Leu22Ter) 80357438 MedGen:C1140680 17 43124032 43124032 A T 246854 single nucleotide variant NM_007294.3(BRCA1):c.65T>A (p.Leu22Ter) 80357438 MedGen:C1140680 17 41276049 41276049 A T 247263 single nucleotide variant NM_007294.3(BRCA1):c.-19-15T>C 879255475 MedGen:C2676676,OMIM:604370 17 41276147 41276147 A G 247263 single nucleotide variant NM_007294.3(BRCA1):c.-19-15T>C 879255475 MedGen:C2676676,OMIM:604370 17 43124130 43124130 A G 247264 deletion NM_007294.3(BRCA1):c.1407_1408delAA (p.Ser470Profs) 879255476 MedGen:C2676676,OMIM:604370 17 41246140 41246141 TT - 247264 deletion NM_007294.3(BRCA1):c.1407_1408delAA (p.Ser470Profs) 879255476 MedGen:C2676676,OMIM:604370 17 43094123 43094124 TT - 247265 single nucleotide variant NM_007294.3(BRCA1):c.142A>G (p.Met48Val) 879255477 MedGen:C2676676,OMIM:604370 17 41258543 41258543 T C 247265 single nucleotide variant NM_007294.3(BRCA1):c.142A>G (p.Met48Val) 879255477 MedGen:C2676676,OMIM:604370 17 43106526 43106526 T C 247266 single nucleotide variant NM_007294.3(BRCA1):c.1460T>C (p.Val487Ala) 748812609 MedGen:C2676676,OMIM:604370 17 41246088 41246088 A G 247266 single nucleotide variant NM_007294.3(BRCA1):c.1460T>C (p.Val487Ala) 748812609 MedGen:C2676676,OMIM:604370 17 43094071 43094071 A G 247267 single nucleotide variant NM_007294.3(BRCA1):c.1514A>T (p.Lys505Ile) 879254266 MedGen:C2676676,OMIM:604370 17 43094017 43094017 T A 247267 single nucleotide variant NM_007294.3(BRCA1):c.1514A>T (p.Lys505Ile) 879254266 MedGen:C2676676,OMIM:604370 17 41246034 41246034 T A 247268 duplication NM_007294.3(BRCA1):c.1575dupT (p.Gln526Serfs) 879255478 MedGen:C2676676,OMIM:604370 17 41245973 41245973 A AA 247268 duplication NM_007294.3(BRCA1):c.1575dupT (p.Gln526Serfs) 879255478 MedGen:C2676676,OMIM:604370 17 43093956 43093956 A AA 247269 deletion NM_007294.3(BRCA1):c.1759_1762delATAA (p.Ile587Alafs) 879255479 MedGen:C2676676,OMIM:604370 17 41245786 41245789 TTAT - 247269 deletion NM_007294.3(BRCA1):c.1759_1762delATAA (p.Ile587Alafs) 879255479 MedGen:C2676676,OMIM:604370 17 43093769 43093772 TTAT - 247270 insertion NM_007294.3(BRCA1):c.1949_1950insCA (p.Lys652Argfs) 879255480 MedGen:C2676676,OMIM:604370 17 41245598 41245599 - TG 247270 insertion NM_007294.3(BRCA1):c.1949_1950insCA (p.Lys652Argfs) 879255480 MedGen:C2676676,OMIM:604370 17 43093581 43093582 - TG 247271 deletion NM_007294.3(BRCA1):c.2719delG (p.Glu907Lysfs) 879255481 MedGen:C2676676,OMIM:604370 17 41244829 41244829 C - 247271 deletion NM_007294.3(BRCA1):c.2719delG (p.Glu907Lysfs) 879255481 MedGen:C2676676,OMIM:604370 17 43092812 43092812 C - 247272 single nucleotide variant NM_007294.3(BRCA1):c.3048T>G (p.Asn1016Lys) 879255482 MedGen:C2676676,OMIM:604370 17 41244500 41244500 A C 247272 single nucleotide variant NM_007294.3(BRCA1):c.3048T>G (p.Asn1016Lys) 879255482 MedGen:C2676676,OMIM:604370 17 43092483 43092483 A C 247273 single nucleotide variant NM_007294.3(BRCA1):c.3178G>C (p.Glu1060Gln) 80357424 MedGen:C2676676,OMIM:604370 17 41244370 41244370 C G 247273 single nucleotide variant NM_007294.3(BRCA1):c.3178G>C (p.Glu1060Gln) 80357424 MedGen:C2676676,OMIM:604370 17 43092353 43092353 C G 247274 deletion NM_007294.3(BRCA1):c.3257delT (p.Leu1086Terfs) 879255483 MedGen:C2676676,OMIM:604370 17 41244291 41244291 A - 247274 deletion NM_007294.3(BRCA1):c.3257delT (p.Leu1086Terfs) 879255483 MedGen:C2676676,OMIM:604370 17 43092274 43092274 A - 247275 single nucleotide variant NM_007294.3(BRCA1):c.3564G>C (p.Arg1188Ser) 879255484 MedGen:C2676676,OMIM:604370 17 41243984 41243984 C G 247275 single nucleotide variant NM_007294.3(BRCA1):c.3564G>C (p.Arg1188Ser) 879255484 MedGen:C2676676,OMIM:604370 17 43091967 43091967 C G 247276 single nucleotide variant NM_007294.3(BRCA1):c.3720G>C (p.Gln1240His) 876658341 MedGen:C2676676,OMIM:604370 17 43091811 43091811 C G 247276 single nucleotide variant NM_007294.3(BRCA1):c.3720G>C (p.Gln1240His) 876658341 MedGen:C2676676,OMIM:604370 17 41243828 41243828 C G 247277 single nucleotide variant NM_007294.3(BRCA1):c.403A>T (p.Lys135Ter) 879255485 MedGen:C2676676,OMIM:604370 17 41256177 41256177 T A 247277 single nucleotide variant NM_007294.3(BRCA1):c.403A>T (p.Lys135Ter) 879255485 MedGen:C2676676,OMIM:604370 17 43104160 43104160 T A 247278 single nucleotide variant NM_007294.3(BRCA1):c.4097-18C>A 879255486 MedGen:C2676676,OMIM:604370 17 41243067 41243067 G T 247278 single nucleotide variant NM_007294.3(BRCA1):c.4097-18C>A 879255486 MedGen:C2676676,OMIM:604370 17 43091050 43091050 G T 247279 single nucleotide variant NM_007294.3(BRCA1):c.4185+8G>C 879255487 MedGen:C2676676,OMIM:604370 17 43090936 43090936 C G 247279 single nucleotide variant NM_007294.3(BRCA1):c.4185+8G>C 879255487 MedGen:C2676676,OMIM:604370 17 41242953 41242953 C G 247280 single nucleotide variant NM_007294.3(BRCA1):c.4186-18C>T 879255488 MedGen:C2676676,OMIM:604370 17 43082593 43082593 G A 247280 single nucleotide variant NM_007294.3(BRCA1):c.4186-18C>T 879255488 MedGen:C2676676,OMIM:604370 17 41234610 41234610 G A 247281 single nucleotide variant NM_007294.3(BRCA1):c.4273C>T (p.Pro1425Ser) 768327850 MedGen:C2676676,OMIM:604370 17 41234505 41234505 G A 247281 single nucleotide variant NM_007294.3(BRCA1):c.4273C>T (p.Pro1425Ser) 768327850 MedGen:C2676676,OMIM:604370 17 43082488 43082488 G A 247282 insertion NG_005905.2:g.141479_141480ins5 879255489 MedGen:C2676676,OMIM:604370 17 43076504 43076505 na na 247282 insertion NG_005905.2:g.141479_141480ins5 879255489 MedGen:C2676676,OMIM:604370 17 41228521 41228522 na na 247283 deletion NM_007294.3(BRCA1):c.4888_4889delGA (p.Glu1630Lysfs) 879255490 MedGen:C2676676,OMIM:604370 17 43071025 43071026 TC - 247283 deletion NM_007294.3(BRCA1):c.4888_4889delGA (p.Glu1630Lysfs) 879255490 MedGen:C2676676,OMIM:604370 17 41223042 41223043 TC - 247284 single nucleotide variant NM_007294.3(BRCA1):c.5050A>C (p.Thr1684Pro) 879255491 MedGen:C2676676,OMIM:604370 17 43067632 43067632 T G 247284 single nucleotide variant NM_007294.3(BRCA1):c.5050A>C (p.Thr1684Pro) 879255491 MedGen:C2676676,OMIM:604370 17 41219649 41219649 T G 247285 single nucleotide variant NM_007294.3(BRCA1):c.5107T>G (p.Tyr1703Asp) 863224763 MedGen:C2676676,OMIM:604370 17 43063919 43063919 A C 247285 single nucleotide variant NM_007294.3(BRCA1):c.5107T>G (p.Tyr1703Asp) 863224763 MedGen:C2676676,OMIM:604370 17 41215936 41215936 A C 247286 single nucleotide variant NM_007294.3(BRCA1):c.5277+4A>G 397509251 MedGen:C2676676,OMIM:604370 17 43057048 43057048 T C 247286 single nucleotide variant NM_007294.3(BRCA1):c.5277+4A>G 397509251 MedGen:C2676676,OMIM:604370 17 41209065 41209065 T C 247287 single nucleotide variant NM_007294.3(BRCA1):c.5390C>T (p.Ser1797Leu) 879255492 MedGen:C2676676,OMIM:604370 17 43049137 43049137 G A 247287 single nucleotide variant NM_007294.3(BRCA1):c.5390C>T (p.Ser1797Leu) 879255492 MedGen:C2676676,OMIM:604370 17 41201154 41201154 G A 247288 single nucleotide variant NM_007294.3(BRCA1):c.5406A>C (p.Thr1802=) 879255493 MedGen:C2676676,OMIM:604370 17 41201138 41201138 T G 247288 single nucleotide variant NM_007294.3(BRCA1):c.5406A>C (p.Thr1802=) 879255493 MedGen:C2676676,OMIM:604370 17 43049121 43049121 T G 247289 single nucleotide variant NM_007294.3(BRCA1):c.617A>C (p.Gln206Pro) 879255494 MedGen:C2676676,OMIM:604370 17 41247916 41247916 T G 247289 single nucleotide variant NM_007294.3(BRCA1):c.617A>C (p.Gln206Pro) 879255494 MedGen:C2676676,OMIM:604370 17 43095899 43095899 T G 247290 single nucleotide variant NM_007294.3(BRCA1):c.628C>T (p.Gln210Ter) 879255495 MedGen:C2676676,OMIM:604370 17 43095888 43095888 G A 247290 single nucleotide variant NM_007294.3(BRCA1):c.628C>T (p.Gln210Ter) 879255495 MedGen:C2676676,OMIM:604370 17 41247905 41247905 G A 247291 single nucleotide variant NM_007294.3(BRCA1):c.77T>A (p.Ile26Asn) 879255496 MedGen:C2676676,OMIM:604370 17 43124020 43124020 A T 247291 single nucleotide variant NM_007294.3(BRCA1):c.77T>A (p.Ile26Asn) 879255496 MedGen:C2676676,OMIM:604370 17 41276037 41276037 A T 247292 single nucleotide variant NM_007294.3(BRCA1):c.827C>A (p.Thr276Lys) 80357436 MedGen:C2676676,OMIM:604370 17 41246721 41246721 G T 247292 single nucleotide variant NM_007294.3(BRCA1):c.827C>A (p.Thr276Lys) 80357436 MedGen:C2676676,OMIM:604370 17 43094704 43094704 G T 247293 deletion NM_007294.3(BRCA1):c.864_866delCAG (p.Ser289del) 879255497 MedGen:C2676676,OMIM:604370 17 43094665 43094667 CTG - 247293 deletion NM_007294.3(BRCA1):c.864_866delCAG (p.Ser289del) 879255497 MedGen:C2676676,OMIM:604370 17 41246682 41246684 CTG - 247294 single nucleotide variant NM_007294.3(BRCA1):c.925A>G (p.Lys309Glu) 879255498 MedGen:C2676676,OMIM:604370 17 41246623 41246623 T C 247294 single nucleotide variant NM_007294.3(BRCA1):c.925A>G (p.Lys309Glu) 879255498 MedGen:C2676676,OMIM:604370 17 43094606 43094606 T C 247297 protein only NP_009225.1(BRCA1):p.Ser864Ter -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 247298 protein only NP_009225.1(BRCA1):p.Ser955Ter -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 248516 deletion NM_007294.3(BRCA1):c.5333-?_5406+?del -1 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 na -1 -1 na na 248519 duplication NM_007294.3(BRCA1):c.548-?_5074+?dup -1 MedGen:C0677776,Orphanet:ORPHA145 na -1 -1 na na 248520 deletion NM_007294.3(BRCA1):c.-19-?_4185+?del -1 MedGen:C0677776,Orphanet:ORPHA145 na -1 -1 na na 248522 duplication NM_007294.3(BRCA1):c.5075-?_5277+?dup -1 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 na -1 -1 na na 248523 deletion NM_007294.3(BRCA1):c.81-?_4986+?del -1 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 na -1 -1 na na 248524 deletion NM_007294.3(BRCA1):c.442-?_593+?del -1 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 na -1 -1 na na 248525 duplication NM_007294.3(BRCA1):c.-19-?_5406+?dup -1 MedGen:C0677776,Orphanet:ORPHA145 na -1 -1 na na 248526 duplication NM_007294.3(BRCA1):c.-19-?_80+?dup -1 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 na -1 -1 na na 248527 deletion NM_007294.3(BRCA1):c.4485-?_4675+?del -1 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 na -1 -1 na na 248529 deletion NM_007294.3(BRCA1):c.442-?_547+?del -1 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 na -1 -1 na na 248530 deletion NM_007294.3(BRCA1):c.-19-?_80+?del -1 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 na -1 -1 na na 248534 deletion NM_007294.3(BRCA1):c.442-?_4357+?del -1 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 na -1 -1 na na 248536 duplication NM_007294.3(BRCA1):c.-19-?_441+?dup -1 MedGen:C0677776,Orphanet:ORPHA145 na -1 -1 na na 249072 deletion NM_007294.3(BRCA1):c.5484_5485delTG (p.Cys1828Terfs) 886038046 MedGen:C2676676,OMIM:604370 17 41197802 41197803 CA - 249072 deletion NM_007294.3(BRCA1):c.5484_5485delTG (p.Cys1828Terfs) 886038046 MedGen:C2676676,OMIM:604370 17 43045785 43045786 CA - 249073 duplication NM_007294.3(BRCA1):c.5485dupG (p.Glu1829Glyfs) 768401297 MedGen:C2676676,OMIM:604370 17 43045785 43045785 C CC 249073 duplication NM_007294.3(BRCA1):c.5485dupG (p.Glu1829Glyfs) 768401297 MedGen:C2676676,OMIM:604370 17 41197802 41197802 C CC 249074 deletion NM_007294.3(BRCA1):c.5391delA (p.Phe1798Serfs) 774988515 MedGen:C2676676,OMIM:604370 17 43049136 43049136 T - 249074 deletion NM_007294.3(BRCA1):c.5391delA (p.Phe1798Serfs) 774988515 MedGen:C2676676,OMIM:604370 17 41201153 41201153 T - 249075 deletion NM_007294.3(BRCA1):c.5366delC (p.Ala1789Valfs) 760188581 MedGen:C2676676,OMIM:604370 17 43049161 43049161 G - 249075 deletion NM_007294.3(BRCA1):c.5366delC (p.Ala1789Valfs) 760188581 MedGen:C2676676,OMIM:604370 17 41201178 41201178 G - 249076 deletion NM_007294.3(BRCA1):c.5338delC (p.Leu1780Trpfs) 886038045 MedGen:C2676676,OMIM:604370 17 43049189 43049189 G - 249076 deletion NM_007294.3(BRCA1):c.5338delC (p.Leu1780Trpfs) 886038045 MedGen:C2676676,OMIM:604370 17 41201206 41201206 G - 249077 deletion NM_007294.3(BRCA1):c.5276delA (p.Lys1759Argfs) 80357732 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41209070 41209070 T - 249077 deletion NM_007294.3(BRCA1):c.5276delA (p.Lys1759Argfs) 80357732 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43057053 43057053 T - 249078 deletion NM_007294.3(BRCA1):c.5268_5274delGGACAGA (p.Asp1757Argfs) 886038043 MedGen:C2676676,OMIM:604370 17 43057055 43057061 TCTGTCC - 249078 deletion NM_007294.3(BRCA1):c.5268_5274delGGACAGA (p.Asp1757Argfs) 886038043 MedGen:C2676676,OMIM:604370 17 41209072 41209078 TCTGTCC - 249079 duplication NM_007294.3(BRCA1):c.5234dupA (p.Asn1745Lysfs) 886038042 MedGen:C2676676,OMIM:604370 17 43057095 43057095 T TT 249079 duplication NM_007294.3(BRCA1):c.5234dupA (p.Asn1745Lysfs) 886038042 MedGen:C2676676,OMIM:604370 17 41209112 41209112 T TT 249080 duplication NM_007294.3(BRCA1):c.5133dupA (p.Trp1712Metfs) 886038041 MedGen:C2676676,OMIM:604370 17 41215910 41215910 T TT 249080 duplication NM_007294.3(BRCA1):c.5133dupA (p.Trp1712Metfs) 886038041 MedGen:C2676676,OMIM:604370 17 43063893 43063893 T TT 249081 deletion NM_007294.3(BRCA1):c.5123delC (p.Ala1708Glyfs) 886038040 MedGen:C2676676,OMIM:604370 17 41215920 41215920 G - 249081 deletion NM_007294.3(BRCA1):c.5123delC (p.Ala1708Glyfs) 886038040 MedGen:C2676676,OMIM:604370 17 43063903 43063903 G - 249082 deletion NM_007294.3(BRCA1):c.5027_5031delTAACT (p.Leu1676Terfs) 431825410 MedGen:C2676676,OMIM:604370 17 43067651 43067655 AGTTA - 249082 deletion NM_007294.3(BRCA1):c.5027_5031delTAACT (p.Leu1676Terfs) 431825410 MedGen:C2676676,OMIM:604370 17 41219668 41219672 AGTTA - 249083 deletion NM_007294.3(BRCA1):c.4969delC (p.Leu1657Terfs) 886038038 MedGen:C2676676,OMIM:604370 17 43070945 43070945 G - 249083 deletion NM_007294.3(BRCA1):c.4969delC (p.Leu1657Terfs) 886038038 MedGen:C2676676,OMIM:604370 17 41222962 41222962 G - 249084 duplication NM_007294.3(BRCA1):c.4932_4933dupAA (p.Arg1645Lysfs) 80357833 MedGen:C2676676,OMIM:604370 17 41222998 41222999 TT TTTT 249084 duplication NM_007294.3(BRCA1):c.4932_4933dupAA (p.Arg1645Lysfs) 80357833 MedGen:C2676676,OMIM:604370 17 43070981 43070982 TT TTTT 249085 deletion NM_007294.3(BRCA1):c.4895_4896delTG (p.Val1632Glufs) 886038037 MedGen:C2676676,OMIM:604370 17 41223035 41223036 CA - 249085 deletion NM_007294.3(BRCA1):c.4895_4896delTG (p.Val1632Glufs) 886038037 MedGen:C2676676,OMIM:604370 17 43071018 43071019 CA - 249086 deletion NM_007294.3(BRCA1):c.4806delT (p.Gln1604Asnfs) 886038036 MedGen:C2676676,OMIM:604370 17 43071108 43071108 A - 249086 deletion NM_007294.3(BRCA1):c.4806delT (p.Gln1604Asnfs) 886038036 MedGen:C2676676,OMIM:604370 17 41223125 41223125 A - 249087 insertion NM_007294.3(BRCA1):c.4609_4610insCC (p.Gln1537Profs) 886038035 MedGen:C2676676,OMIM:604370 17 41226413 41226414 - GG 249087 insertion NM_007294.3(BRCA1):c.4609_4610insCC (p.Gln1537Profs) 886038035 MedGen:C2676676,OMIM:604370 17 43074396 43074397 - GG 249088 deletion NM_007294.3(BRCA1):c.4483delA (p.Arg1495Glyfs) 886038034 MedGen:C2676676,OMIM:604370 17 41228506 41228506 T - 249088 deletion NM_007294.3(BRCA1):c.4483delA (p.Arg1495Glyfs) 886038034 MedGen:C2676676,OMIM:604370 17 43076489 43076489 T - 249089 insertion NM_007294.3(BRCA1):c.4193_4194insGG (p.Asp1398Glufs) 886038033 MedGen:C2676676,OMIM:604370 17 41234584 41234585 - CC 249089 insertion NM_007294.3(BRCA1):c.4193_4194insGG (p.Asp1398Glufs) 886038033 MedGen:C2676676,OMIM:604370 17 43082567 43082568 - CC 249090 deletion NM_007294.3(BRCA1):c.4139_4140delAA (p.Glu1380Glyfs) 886038032 MedGen:C2676676,OMIM:604370 17 43090989 43090990 TT - 249090 deletion NM_007294.3(BRCA1):c.4139_4140delAA (p.Glu1380Glyfs) 886038032 MedGen:C2676676,OMIM:604370 17 41243006 41243007 TT - 249091 single nucleotide variant NM_007294.3(BRCA1):c.4088C>G (p.Ser1363Ter) 398122680 MedGen:C2676676,OMIM:604370 17 43091443 43091443 G C 249091 single nucleotide variant NM_007294.3(BRCA1):c.4088C>G (p.Ser1363Ter) 398122680 MedGen:C2676676,OMIM:604370 17 41243460 41243460 G C 249092 deletion NM_007294.3(BRCA1):c.4038_4039delAA (p.Gly1348Asnfs) 273900721 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41243509 41243510 TT - 249092 deletion NM_007294.3(BRCA1):c.4038_4039delAA (p.Gly1348Asnfs) 273900721 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43091492 43091493 TT - 249093 duplication NM_007294.3(BRCA1):c.4015dupG (p.Glu1339Glyfs) 886038030 MedGen:C2676676,OMIM:604370 17 43091516 43091516 C CC 249093 duplication NM_007294.3(BRCA1):c.4015dupG (p.Glu1339Glyfs) 886038030 MedGen:C2676676,OMIM:604370 17 41243533 41243533 C CC 249094 deletion NM_007294.3(BRCA1):c.4013delA (p.Lys1338Argfs) 886038029 MedGen:C2676676,OMIM:604370 17 41243535 41243535 T - 249094 deletion NM_007294.3(BRCA1):c.4013delA (p.Lys1338Argfs) 886038029 MedGen:C2676676,OMIM:604370 17 43091518 43091518 T - 249095 deletion NM_007294.3(BRCA1):c.3999_4008delTGGTCTGAGT (p.Gly1334Thrfs) 754792932 MedGen:C2676676,OMIM:604370 17 41243540 41243549 ACTCAGACCA - 249095 deletion NM_007294.3(BRCA1):c.3999_4008delTGGTCTGAGT (p.Gly1334Thrfs) 754792932 MedGen:C2676676,OMIM:604370 17 43091523 43091532 ACTCAGACCA - 249096 single nucleotide variant NM_007294.3(BRCA1):c.3910G>T (p.Glu1304Ter) 886038028 MedGen:C2676676,OMIM:604370 17 41243638 41243638 C A 249096 single nucleotide variant NM_007294.3(BRCA1):c.3910G>T (p.Glu1304Ter) 886038028 MedGen:C2676676,OMIM:604370 17 43091621 43091621 C A 249097 deletion NM_007294.3(BRCA1):c.3889delT (p.Ser1297Leufs) 886038027 MedGen:C2676676,OMIM:604370 17 43091642 43091642 A - 249097 deletion NM_007294.3(BRCA1):c.3889delT (p.Ser1297Leufs) 886038027 MedGen:C2676676,OMIM:604370 17 41243659 41243659 A - 249098 deletion NM_007294.3(BRCA1):c.3853delC (p.Ser1286Valfs) 397507222 MedGen:C2676676,OMIM:604370 17 41243695 41243695 G - 249098 deletion NM_007294.3(BRCA1):c.3853delC (p.Ser1286Valfs) 397507222 MedGen:C2676676,OMIM:604370 17 43091678 43091678 G - 249099 single nucleotide variant NM_007294.3(BRCA1):c.3779T>G (p.Leu1260Ter) 886038025 MedGen:C2676676,OMIM:604370 17 41243769 41243769 A C 249099 single nucleotide variant NM_007294.3(BRCA1):c.3779T>G (p.Leu1260Ter) 886038025 MedGen:C2676676,OMIM:604370 17 43091752 43091752 A C 249100 deletion NM_007294.3(BRCA1):c.3770_3777delAGGAGAAT (p.Glu1257Valfs) 886038024 MedGen:C2676676,OMIM:604370 17 41243771 41243778 ATTCTCCT - 249100 deletion NM_007294.3(BRCA1):c.3770_3777delAGGAGAAT (p.Glu1257Valfs) 886038024 MedGen:C2676676,OMIM:604370 17 43091754 43091761 ATTCTCCT - 249101 deletion NM_007294.3(BRCA1):c.3714_3747del34 (p.Gln1240Valfs) 886038023 MedGen:C2676676,OMIM:604370 17 41243801 41243834 na na 249101 deletion NM_007294.3(BRCA1):c.3714_3747del34 (p.Gln1240Valfs) 886038023 MedGen:C2676676,OMIM:604370 17 43091784 43091817 na na 249102 duplication NM_007294.3(BRCA1):c.3710_3711dupTA (p.Pro1238Tyrfs) 777371832 MedGen:C2676676,OMIM:604370 17 41243837 41243838 TA TATA 249102 duplication NM_007294.3(BRCA1):c.3710_3711dupTA (p.Pro1238Tyrfs) 777371832 MedGen:C2676676,OMIM:604370 17 43091820 43091821 TA TATA 249103 single nucleotide variant NM_007294.3(BRCA1):c.3697A>T (p.Lys1233Ter) 774679104 MedGen:C2676676,OMIM:604370 17 41243851 41243851 T A 249103 single nucleotide variant NM_007294.3(BRCA1):c.3697A>T (p.Lys1233Ter) 774679104 MedGen:C2676676,OMIM:604370 17 43091834 43091834 T A 249104 deletion NM_007294.3(BRCA1):c.3695delG (p.Gly1232Valfs) 886038022 MedGen:C2676676,OMIM:604370 17 41243853 41243853 C - 249104 deletion NM_007294.3(BRCA1):c.3695delG (p.Gly1232Valfs) 886038022 MedGen:C2676676,OMIM:604370 17 43091836 43091836 C - 249105 single nucleotide variant NM_007294.3(BRCA1):c.3635C>G (p.Ser1212Ter) 886038021 MedGen:C2676676,OMIM:604370 17 43091896 43091896 G C 249105 single nucleotide variant NM_007294.3(BRCA1):c.3635C>G (p.Ser1212Ter) 886038021 MedGen:C2676676,OMIM:604370 17 41243913 41243913 G C 249106 deletion NM_007294.3(BRCA1):c.3624delA (p.Lys1208Asnfs) 886038020 MedGen:C2676676,OMIM:604370 17 41243924 41243924 T - 249106 deletion NM_007294.3(BRCA1):c.3624delA (p.Lys1208Asnfs) 886038020 MedGen:C2676676,OMIM:604370 17 43091907 43091907 T - 249107 deletion NM_007294.3(BRCA1):c.3616delG (p.Ala1206Profs) 886038019 MedGen:C2676676,OMIM:604370 17 41243932 41243932 C - 249107 deletion NM_007294.3(BRCA1):c.3616delG (p.Ala1206Profs) 886038019 MedGen:C2676676,OMIM:604370 17 43091915 43091915 C - 249108 duplication NM_007294.3(BRCA1):c.3592_3593dupTT (p.Leu1198Phefs) 80357562 MedGen:C2676676,OMIM:604370 17 41243955 41243956 AA AAAA 249108 duplication NM_007294.3(BRCA1):c.3592_3593dupTT (p.Leu1198Phefs) 80357562 MedGen:C2676676,OMIM:604370 17 43091938 43091939 AA AAAA 249109 deletion NM_007294.3(BRCA1):c.3570delT (p.Ser1191Alafs) 886038018 MedGen:C2676676,OMIM:604370 17 41243978 41243978 A - 249109 deletion NM_007294.3(BRCA1):c.3570delT (p.Ser1191Alafs) 886038018 MedGen:C2676676,OMIM:604370 17 43091961 43091961 A - 249110 indel NM_007294.3(BRCA1):c.3547_3550delAAAGinsGAT (p.Lys1183Aspfs) 886038017 MedGen:C2676676,OMIM:604370 17 41243998 41244001 CTTT ATC 249110 indel NM_007294.3(BRCA1):c.3547_3550delAAAGinsGAT (p.Lys1183Aspfs) 886038017 MedGen:C2676676,OMIM:604370 17 43091981 43091984 CTTT ATC 249111 deletion NM_007294.3(BRCA1):c.3541delG (p.Val1181Serfs) 886038016 MedGen:C2676676,OMIM:604370 17 41244007 41244007 C - 249111 deletion NM_007294.3(BRCA1):c.3541delG (p.Val1181Serfs) 886038016 MedGen:C2676676,OMIM:604370 17 43091990 43091990 C - 249112 duplication NM_007294.3(BRCA1):c.3531dupT (p.Ser1178Terfs) 761143251 MedGen:C2676676,OMIM:604370 17 43092000 43092000 A AA 249112 duplication NM_007294.3(BRCA1):c.3531dupT (p.Ser1178Terfs) 761143251 MedGen:C2676676,OMIM:604370 17 41244017 41244017 A AA 249113 deletion NM_007294.3(BRCA1):c.3496delG (p.Ala1166Leufs) 886038015 MedGen:C2676676,OMIM:604370 17 41244052 41244052 C - 249113 deletion NM_007294.3(BRCA1):c.3496delG (p.Ala1166Leufs) 886038015 MedGen:C2676676,OMIM:604370 17 43092035 43092035 C - 249114 deletion NM_007294.3(BRCA1):c.3458_3462delTGTTA (p.Leu1153Argfs) 886038014 MedGen:C2676676,OMIM:604370 17 43092069 43092073 TAACA - 249114 deletion NM_007294.3(BRCA1):c.3458_3462delTGTTA (p.Leu1153Argfs) 886038014 MedGen:C2676676,OMIM:604370 17 41244086 41244090 TAACA - 249115 deletion NM_007294.3(BRCA1):c.3459_3460delGT (p.Leu1154Argfs) 886038013 MedGen:C2676676,OMIM:604370 17 41244088 41244089 AC - 249115 deletion NM_007294.3(BRCA1):c.3459_3460delGT (p.Leu1154Argfs) 886038013 MedGen:C2676676,OMIM:604370 17 43092071 43092072 AC - 249116 single nucleotide variant NM_007294.3(BRCA1):c.3442G>T (p.Glu1148Ter) 886038012 MedGen:C2676676,OMIM:604370 17 43092089 43092089 C A 249116 single nucleotide variant NM_007294.3(BRCA1):c.3442G>T (p.Glu1148Ter) 886038012 MedGen:C2676676,OMIM:604370 17 41244106 41244106 C A 249117 deletion NM_007294.3(BRCA1):c.3330delG (p.Lys1110Asnfs) 886038011 MedGen:C2676676,OMIM:604370 17 41244218 41244218 C - 249117 deletion NM_007294.3(BRCA1):c.3330delG (p.Lys1110Asnfs) 886038011 MedGen:C2676676,OMIM:604370 17 43092201 43092201 C - 249118 deletion NM_007294.3(BRCA1):c.3279_3280delCT (p.Tyr1094Terfs) 886038010 MedGen:C2676676,OMIM:604370 17 41244268 41244269 AG - 249118 deletion NM_007294.3(BRCA1):c.3279_3280delCT (p.Tyr1094Terfs) 886038010 MedGen:C2676676,OMIM:604370 17 43092251 43092252 AG - 249119 single nucleotide variant NM_007294.3(BRCA1):c.3226A>T (p.Arg1076Ter) 886038009 MedGen:C2676676,OMIM:604370 17 41244322 41244322 T A 249119 single nucleotide variant NM_007294.3(BRCA1):c.3226A>T (p.Arg1076Ter) 886038009 MedGen:C2676676,OMIM:604370 17 43092305 43092305 T A 249120 deletion NM_007294.3(BRCA1):c.3015delA (p.Glu1005Aspfs) 886038008 MedGen:C2676676,OMIM:604370 17 41244533 41244533 T - 249120 deletion NM_007294.3(BRCA1):c.3015delA (p.Glu1005Aspfs) 886038008 MedGen:C2676676,OMIM:604370 17 43092516 43092516 T - 249121 single nucleotide variant NM_007294.3(BRCA1):c.3001G>T (p.Glu1001Ter) 886038007 MedGen:C2676676,OMIM:604370 17 41244547 41244547 C A 249121 single nucleotide variant NM_007294.3(BRCA1):c.3001G>T (p.Glu1001Ter) 886038007 MedGen:C2676676,OMIM:604370 17 43092530 43092530 C A 249122 deletion NM_007294.3(BRCA1):c.2927delA (p.Asn976Thrfs) 886038006 MedGen:C2676676,OMIM:604370 17 41244621 41244621 T - 249122 deletion NM_007294.3(BRCA1):c.2927delA (p.Asn976Thrfs) 886038006 MedGen:C2676676,OMIM:604370 17 43092604 43092604 T - 249123 deletion NM_007294.3(BRCA1):c.2898delT (p.Thr967Leufs) 886038005 MedGen:C2676676,OMIM:604370 17 41244650 41244650 A - 249123 deletion NM_007294.3(BRCA1):c.2898delT (p.Thr967Leufs) 886038005 MedGen:C2676676,OMIM:604370 17 43092633 43092633 A - 249124 deletion NM_007294.3(BRCA1):c.2806_2807delGA (p.Asp936Terfs) 886038004 MedGen:C2676676,OMIM:604370 17 41244741 41244742 TC - 249124 deletion NM_007294.3(BRCA1):c.2806_2807delGA (p.Asp936Terfs) 886038004 MedGen:C2676676,OMIM:604370 17 43092724 43092725 TC - 249125 insertion NM_007294.3(BRCA1):c.2689_2690insAC (p.Pro897Hisfs) 397508999 MedGen:C2676676,OMIM:604370 17 41244858 41244859 - GT 249125 insertion NM_007294.3(BRCA1):c.2689_2690insAC (p.Pro897Hisfs) 397508999 MedGen:C2676676,OMIM:604370 17 43092841 43092842 - GT 249126 insertion NM_007294.3(BRCA1):c.2649_2650insGGCA (p.Thr884Glyfs) 886038003 MedGen:C2676676,OMIM:604370 17 41244898 41244899 - TGCC 249126 insertion NM_007294.3(BRCA1):c.2649_2650insGGCA (p.Thr884Glyfs) 886038003 MedGen:C2676676,OMIM:604370 17 43092881 43092882 - TGCC 249127 deletion NM_007294.3(BRCA1):c.2630delA (p.Asn877Metfs) 886038002 MedGen:C2676676,OMIM:604370 17 43092901 43092901 T - 249127 deletion NM_007294.3(BRCA1):c.2630delA (p.Asn877Metfs) 886038002 MedGen:C2676676,OMIM:604370 17 41244918 41244918 T - 249128 duplication NM_007294.3(BRCA1):c.2601_2604dupGTCA (p.Phe869Valfs) 80357603 MedGen:C2676676,OMIM:604370 17 41244944 41244947 TGAC TGACTGAC 249128 duplication NM_007294.3(BRCA1):c.2601_2604dupGTCA (p.Phe869Valfs) 80357603 MedGen:C2676676,OMIM:604370 17 43092927 43092930 TGAC TGACTGAC 249129 single nucleotide variant NM_007294.3(BRCA1):c.2599C>T (p.Gln867Ter) 886038001 MedGen:C2676676,OMIM:604370 17 41244949 41244949 G A 249129 single nucleotide variant NM_007294.3(BRCA1):c.2599C>T (p.Gln867Ter) 886038001 MedGen:C2676676,OMIM:604370 17 43092932 43092932 G A 249130 deletion NM_007294.3(BRCA1):c.2445_2448delTCAT (p.Ile815Metfs) 886038000 MedGen:C2676676,OMIM:604370 17 41245100 41245103 ATGA - 249130 deletion NM_007294.3(BRCA1):c.2445_2448delTCAT (p.Ile815Metfs) 886038000 MedGen:C2676676,OMIM:604370 17 43093083 43093086 ATGA - 249131 deletion NM_007294.3(BRCA1):c.2409delT (p.Gln804Serfs) 770460699 MedGen:C2676676,OMIM:604370 17 41245139 41245139 A - 249131 deletion NM_007294.3(BRCA1):c.2409delT (p.Gln804Serfs) 770460699 MedGen:C2676676,OMIM:604370 17 43093122 43093122 A - 249132 duplication NM_007294.3(BRCA1):c.2380dupG (p.Ala794Glyfs) 886037999 MedGen:C2676676,OMIM:604370 17 43093151 43093151 C CC 249132 duplication NM_007294.3(BRCA1):c.2380dupG (p.Ala794Glyfs) 886037999 MedGen:C2676676,OMIM:604370 17 41245168 41245168 C CC 249133 deletion NM_007294.3(BRCA1):c.2246_2280del35 (p.Asp749Glyfs) 886037998 MedGen:C2676676,OMIM:604370 17 41245268 41245302 na na 249133 deletion NM_007294.3(BRCA1):c.2246_2280del35 (p.Asp749Glyfs) 886037998 MedGen:C2676676,OMIM:604370 17 43093251 43093285 na na 249134 duplication NM_007294.3(BRCA1):c.2255_2256dupTA (p.Ser753Terfs) 80357557 MedGen:C2676676,OMIM:604370 17 41245292 41245293 TA TATA 249134 duplication NM_007294.3(BRCA1):c.2255_2256dupTA (p.Ser753Terfs) 80357557 MedGen:C2676676,OMIM:604370 17 43093275 43093276 TA TATA 249135 deletion NM_007294.3(BRCA1):c.2242_2251delAAAGATCTCA (p.Lys748Cysfs) 886037997 MedGen:C2676676,OMIM:604370 17 43093280 43093289 TGAGATCTTT - 249135 deletion NM_007294.3(BRCA1):c.2242_2251delAAAGATCTCA (p.Lys748Cysfs) 886037997 MedGen:C2676676,OMIM:604370 17 41245297 41245306 TGAGATCTTT - 249136 deletion NM_007294.3(BRCA1):c.2145delC (p.Ser716Valfs) 886037996 MedGen:C2676676,OMIM:604370 17 41245403 41245403 G - 249136 deletion NM_007294.3(BRCA1):c.2145delC (p.Ser716Valfs) 886037996 MedGen:C2676676,OMIM:604370 17 43093386 43093386 G - 249137 single nucleotide variant NM_007294.3(BRCA1):c.2138C>A (p.Ser713Ter) 80357233 MedGen:C2676676,OMIM:604370 17 41245410 41245410 G T 249137 single nucleotide variant NM_007294.3(BRCA1):c.2138C>A (p.Ser713Ter) 80357233 MedGen:C2676676,OMIM:604370 17 43093393 43093393 G T 249138 single nucleotide variant NM_007294.3(BRCA1):c.2095G>T (p.Glu699Ter) 876658306 MedGen:C2676676,OMIM:604370 17 41245453 41245453 C A 249138 single nucleotide variant NM_007294.3(BRCA1):c.2095G>T (p.Glu699Ter) 876658306 MedGen:C2676676,OMIM:604370 17 43093436 43093436 C A 249139 deletion NM_007294.3(BRCA1):c.2074_2075delCA (p.His692Terfs) 886037995 MedGen:C2676676,OMIM:604370 17 41245473 41245474 TG - 249139 deletion NM_007294.3(BRCA1):c.2074_2075delCA (p.His692Terfs) 886037995 MedGen:C2676676,OMIM:604370 17 43093456 43093457 TG - 249140 deletion NM_007294.3(BRCA1):c.2066_2069delGTAA (p.Ser689Lysfs) 886037994 MedGen:C2676676,OMIM:604370 17 41245479 41245482 TTAC - 249140 deletion NM_007294.3(BRCA1):c.2066_2069delGTAA (p.Ser689Lysfs) 886037994 MedGen:C2676676,OMIM:604370 17 43093462 43093465 TTAC - 249141 deletion NM_007294.3(BRCA1):c.1977_1978delAG (p.Val660Glnfs) 773413634 MedGen:C2676676,OMIM:604370 17 41245570 41245571 CT - 249141 deletion NM_007294.3(BRCA1):c.1977_1978delAG (p.Val660Glnfs) 773413634 MedGen:C2676676,OMIM:604370 17 43093553 43093554 CT - 249142 deletion NM_007294.3(BRCA1):c.1961_1962delAG (p.Lys654Ilefs) 886037993 MedGen:C2676676,OMIM:604370 17 41245586 41245587 CT - 249142 deletion NM_007294.3(BRCA1):c.1961_1962delAG (p.Lys654Ilefs) 886037993 MedGen:C2676676,OMIM:604370 17 43093569 43093570 CT - 249143 duplication NM_007294.3(BRCA1):c.1842_1843dupGT (p.Ser615Cysfs) 767595162 MedGen:C2676676,OMIM:604370 17 41245705 41245706 AC ACAC 249143 duplication NM_007294.3(BRCA1):c.1842_1843dupGT (p.Ser615Cysfs) 767595162 MedGen:C2676676,OMIM:604370 17 43093688 43093689 AC ACAC 249144 deletion NM_007294.3(BRCA1):c.1839_1840delGA (p.Lys614Valfs) 752474843 MedGen:C2676676,OMIM:604370 17 41245708 41245709 TC - 249144 deletion NM_007294.3(BRCA1):c.1839_1840delGA (p.Lys614Valfs) 752474843 MedGen:C2676676,OMIM:604370 17 43093691 43093692 TC - 249145 deletion NM_007294.3(BRCA1):c.1826delA (p.Asn609Ilefs) 80357736 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41245722 41245722 T - 249145 deletion NM_007294.3(BRCA1):c.1826delA (p.Asn609Ilefs) 80357736 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43093705 43093705 T - 249146 deletion NM_007294.3(BRCA1):c.1733_1734delCT (p.Ser578Cysfs) 886037991 MedGen:C2676676,OMIM:604370 17 41245814 41245815 AG - 249146 deletion NM_007294.3(BRCA1):c.1733_1734delCT (p.Ser578Cysfs) 886037991 MedGen:C2676676,OMIM:604370 17 43093797 43093798 AG - 249147 duplication NM_007294.3(BRCA1):c.1650dupT (p.Ser551Terfs) 753524038 MedGen:C2676676,OMIM:604370 17 41245898 41245898 A AA 249147 duplication NM_007294.3(BRCA1):c.1650dupT (p.Ser551Terfs) 753524038 MedGen:C2676676,OMIM:604370 17 43093881 43093881 A AA 249148 single nucleotide variant NM_007294.3(BRCA1):c.1543G>T (p.Glu515Ter) 886037990 MedGen:C2676676,OMIM:604370 17 41246005 41246005 C A 249148 single nucleotide variant NM_007294.3(BRCA1):c.1543G>T (p.Glu515Ter) 886037990 MedGen:C2676676,OMIM:604370 17 43093988 43093988 C A 249149 deletion NM_007294.3(BRCA1):c.1501_1504delAAAT (p.Lys501Terfs) 80357632 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41246044 41246047 ATTT - 249149 deletion NM_007294.3(BRCA1):c.1501_1504delAAAT (p.Lys501Terfs) 80357632 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43094027 43094030 ATTT - 249150 deletion NM_007294.3(BRCA1):c.1257delA (p.Asp420Metfs) 886037988 MedGen:C2676676,OMIM:604370 17 41246291 41246291 T - 249150 deletion NM_007294.3(BRCA1):c.1257delA (p.Asp420Metfs) 886037988 MedGen:C2676676,OMIM:604370 17 43094274 43094274 T - 249151 deletion NM_007294.3(BRCA1):c.1190delA (p.Asp397Alafs) 748714307 MedGen:C2676676,OMIM:604370 17 41246358 41246358 T - 249151 deletion NM_007294.3(BRCA1):c.1190delA (p.Asp397Alafs) 748714307 MedGen:C2676676,OMIM:604370 17 43094341 43094341 T - 249152 deletion NM_007294.3(BRCA1):c.1123delC (p.Leu375Terfs) 886037987 MedGen:C2676676,OMIM:604370 17 41246425 41246425 G - 249152 deletion NM_007294.3(BRCA1):c.1123delC (p.Leu375Terfs) 886037987 MedGen:C2676676,OMIM:604370 17 43094408 43094408 G - 249153 duplication NM_007294.3(BRCA1):c.1105dupG (p.Asp369Glyfs) 876659396 MedGen:C2676676,OMIM:604370 17 41246443 41246443 C CC 249153 duplication NM_007294.3(BRCA1):c.1105dupG (p.Asp369Glyfs) 876659396 MedGen:C2676676,OMIM:604370 17 43094426 43094426 C CC 249154 single nucleotide variant NM_007294.3(BRCA1):c.1080C>A (p.Cys360Ter) 886037986 MedGen:C2676676,OMIM:604370 17 41246468 41246468 G T 249154 single nucleotide variant NM_007294.3(BRCA1):c.1080C>A (p.Cys360Ter) 886037986 MedGen:C2676676,OMIM:604370 17 43094451 43094451 G T 249155 single nucleotide variant NM_007294.3(BRCA1):c.1044T>A (p.Cys348Ter) 886037985 MedGen:C2676676,OMIM:604370 17 41246504 41246504 A T 249155 single nucleotide variant NM_007294.3(BRCA1):c.1044T>A (p.Cys348Ter) 886037985 MedGen:C2676676,OMIM:604370 17 43094487 43094487 A T 249156 deletion NM_007294.3(BRCA1):c.1039delC (p.Leu347Cysfs) 749508254 MedGen:C2676676,OMIM:604370 17 43094492 43094492 G - 249156 deletion NM_007294.3(BRCA1):c.1039delC (p.Leu347Cysfs) 749508254 MedGen:C2676676,OMIM:604370 17 41246509 41246509 G - 249157 duplication NM_007294.3(BRCA1):c.1018dupG (p.Val340Glyfs) 886037984 MedGen:C2676676,OMIM:604370 17 43094513 43094513 C CC 249157 duplication NM_007294.3(BRCA1):c.1018dupG (p.Val340Glyfs) 886037984 MedGen:C2676676,OMIM:604370 17 41246530 41246530 C CC 249158 insertion NM_007294.3(BRCA1):c.954_955insGT (p.Asn319Valfs) 80357690 MedGen:C2676676,OMIM:604370 17 43094576 43094577 - AC 249158 insertion NM_007294.3(BRCA1):c.954_955insGT (p.Asn319Valfs) 80357690 MedGen:C2676676,OMIM:604370 17 41246593 41246594 - AC 249159 deletion NM_007294.3(BRCA1):c.897delA (p.Glu300Lysfs) 886037982 MedGen:C2676676,OMIM:604370 17 41246651 41246651 T - 249159 deletion NM_007294.3(BRCA1):c.897delA (p.Glu300Lysfs) 886037982 MedGen:C2676676,OMIM:604370 17 43094634 43094634 T - 249160 deletion NM_007294.3(BRCA1):c.875delT (p.Leu292Profs) 886037981 MedGen:C2676676,OMIM:604370 17 43094656 43094656 A - 249160 deletion NM_007294.3(BRCA1):c.875delT (p.Leu292Profs) 886037981 MedGen:C2676676,OMIM:604370 17 41246673 41246673 A - 249161 single nucleotide variant NM_007294.3(BRCA1):c.856G>T (p.Glu286Ter) 886037980 MedGen:C2676676,OMIM:604370 17 43094675 43094675 C A 249161 single nucleotide variant NM_007294.3(BRCA1):c.856G>T (p.Glu286Ter) 886037980 MedGen:C2676676,OMIM:604370 17 41246692 41246692 C A 249162 duplication NM_007294.3(BRCA1):c.841_842dupAG (p.Ser281Argfs) 80357792 MedGen:C2676676,OMIM:604370 17 43094689 43094690 CT CTCT 249162 duplication NM_007294.3(BRCA1):c.841_842dupAG (p.Ser281Argfs) 80357792 MedGen:C2676676,OMIM:604370 17 41246706 41246707 CT CTCT 249163 single nucleotide variant NM_007294.3(BRCA1):c.784C>T (p.Gln262Ter) 886037979 MedGen:C2676676,OMIM:604370 17 41246764 41246764 G A 249163 single nucleotide variant NM_007294.3(BRCA1):c.784C>T (p.Gln262Ter) 886037979 MedGen:C2676676,OMIM:604370 17 43094747 43094747 G A 249164 deletion NM_007294.3(BRCA1):c.745_746delAC (p.Thr249Terfs) 886037978 MedGen:C2676676,OMIM:604370 17 41246802 41246803 GT - 249164 deletion NM_007294.3(BRCA1):c.745_746delAC (p.Thr249Terfs) 886037978 MedGen:C2676676,OMIM:604370 17 43094785 43094786 GT - 249165 single nucleotide variant NM_007294.3(BRCA1):c.737T>A (p.Leu246Ter) 886037977 MedGen:C2676676,OMIM:604370 17 41246811 41246811 A T 249165 single nucleotide variant NM_007294.3(BRCA1):c.737T>A (p.Leu246Ter) 886037977 MedGen:C2676676,OMIM:604370 17 43094794 43094794 A T 249166 deletion NM_007294.3(BRCA1):c.475delC (p.Gly160Glufs) 886037976 MedGen:C2676676,OMIM:604370 17 41251864 41251864 G - 249166 deletion NM_007294.3(BRCA1):c.475delC (p.Gly160Glufs) 886037976 MedGen:C2676676,OMIM:604370 17 43099847 43099847 G - 249167 deletion NM_007294.3(BRCA1):c.464_465delAA (p.Gln155Profs) 886037974 MedGen:C2676676,OMIM:604370 17 43099857 43099858 TT - 249167 deletion NM_007294.3(BRCA1):c.464_465delAA (p.Gln155Profs) 886037974 MedGen:C2676676,OMIM:604370 17 41251874 41251875 TT - 249168 deletion NM_007294.3(BRCA1):c.465delA (p.Gln155Hisfs) 483353104 MedGen:C2676676,OMIM:604370 17 41251874 41251874 T - 249168 deletion NM_007294.3(BRCA1):c.465delA (p.Gln155Hisfs) 483353104 MedGen:C2676676,OMIM:604370 17 43099857 43099857 T - 249169 deletion NM_007294.3(BRCA1):c.397delC (p.Arg133Valfs) 886037973 MedGen:C2676676,OMIM:604370 17 41256183 41256183 G - 249169 deletion NM_007294.3(BRCA1):c.397delC (p.Arg133Valfs) 886037973 MedGen:C2676676,OMIM:604370 17 43104166 43104166 G - 249170 single nucleotide variant NM_007294.3(BRCA1):c.390C>G (p.Tyr130Ter) 80356888 MedGen:C2676676,OMIM:604370 17 43104173 43104173 G C 249170 single nucleotide variant NM_007294.3(BRCA1):c.390C>G (p.Tyr130Ter) 80356888 MedGen:C2676676,OMIM:604370 17 41256190 41256190 G C 249171 single nucleotide variant NM_007294.3(BRCA1):c.280C>T (p.Gln94Ter) 886037972 MedGen:C2676676,OMIM:604370 17 41256906 41256906 G A 249171 single nucleotide variant NM_007294.3(BRCA1):c.280C>T (p.Gln94Ter) 886037972 MedGen:C2676676,OMIM:604370 17 43104889 43104889 G A 249172 deletion NM_007294.3(BRCA1):c.211delA (p.Arg71Glyfs) 886037971 MedGen:C2676676,OMIM:604370 17 43106457 43106457 T - 249172 deletion NM_007294.3(BRCA1):c.211delA (p.Arg71Glyfs) 886037971 MedGen:C2676676,OMIM:604370 17 41258474 41258474 T - 249173 duplication NM_007294.3(BRCA1):c.205dupA (p.Thr69Asnfs) 886037970 MedGen:C2676676,OMIM:604370 17 41258480 41258480 T TT 249173 duplication NM_007294.3(BRCA1):c.205dupA (p.Thr69Asnfs) 886037970 MedGen:C2676676,OMIM:604370 17 43106463 43106463 T TT 249174 duplication NM_007294.3(BRCA1):c.165_166dupGA (p.Lys56Argfs) 80357550 MedGen:C2676676,OMIM:604370 17 41258519 41258520 TC TCTC 249174 duplication NM_007294.3(BRCA1):c.165_166dupGA (p.Lys56Argfs) 80357550 MedGen:C2676676,OMIM:604370 17 43106502 43106503 TC TCTC 249175 deletion NM_007294.3(BRCA1):c.74_75delCC (p.Pro25Hisfs) 80357633 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43124022 43124023 GG - 249175 deletion NM_007294.3(BRCA1):c.74_75delCC (p.Pro25Hisfs) 80357633 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41276039 41276040 GG - 249176 deletion NM_007294.3(BRCA1):c.65delT (p.Leu22Terfs) 80357803 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 41276049 41276049 A - 249176 deletion NM_007294.3(BRCA1):c.65delT (p.Leu22Terfs) 80357803 MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 17 43124032 43124032 A - 249177 deletion NM_007294.3(BRCA1):c.51delT (p.Met18Cysfs) 886037967 MedGen:C2676676,OMIM:604370 17 41276063 41276063 A - 249177 deletion NM_007294.3(BRCA1):c.51delT (p.Met18Cysfs) 886037967 MedGen:C2676676,OMIM:604370 17 43124046 43124046 A - 249180 single nucleotide variant NM_007294.3(BRCA1):c.5513T>G (p.Val1838Gly) 80357107 MedGen:C2676676,OMIM:604370 17 43045757 43045757 A C 249180 single nucleotide variant NM_007294.3(BRCA1):c.5513T>G (p.Val1838Gly) 80357107 MedGen:C2676676,OMIM:604370 17 41197774 41197774 A C 249181 single nucleotide variant NM_007294.3(BRCA1):c.5125G>A (p.Gly1709Arg) 886038197 MedGen:C2676676,OMIM:604370 17 41215918 41215918 C T 249181 single nucleotide variant NM_007294.3(BRCA1):c.5125G>A (p.Gly1709Arg) 886038197 MedGen:C2676676,OMIM:604370 17 43063901 43063901 C T 249182 single nucleotide variant NM_007294.3(BRCA1):c.5075A>C (p.Asp1692Ala) 397509222 MedGen:C2676676,OMIM:604370 17 43063951 43063951 T G 249182 single nucleotide variant NM_007294.3(BRCA1):c.5075A>C (p.Asp1692Ala) 397509222 MedGen:C2676676,OMIM:604370 17 41215968 41215968 T G 249183 single nucleotide variant NM_007294.3(BRCA1):c.486G>T (p.Val162=) 769213707 MedGen:C2676676,OMIM:604370 17 41251853 41251853 C A 249183 single nucleotide variant NM_007294.3(BRCA1):c.486G>T (p.Val162=) 769213707 MedGen:C2676676,OMIM:604370 17 43099836 43099836 C A 249184 single nucleotide variant NM_007294.3(BRCA1):c.213-5T>A 886038196 MedGen:C2676676,OMIM:604370 17 43104961 43104961 A T 249184 single nucleotide variant NM_007294.3(BRCA1):c.213-5T>A 886038196 MedGen:C2676676,OMIM:604370 17 41256978 41256978 A T 249185 deletion NM_007294.3(BRCA1):c.-20+521_-20+525delAAAAA 770929332 MedGen:C2676676,OMIM:604370 17 41276763 41276767 TTTTT - 249185 deletion NM_007294.3(BRCA1):c.-20+521_-20+525delAAAAA 770929332 MedGen:C2676676,OMIM:604370 17 43124746 43124750 TTTTT - 259533 single nucleotide variant NM_007294.3(BRCA1):c.*1327G>A 184237074 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41196368 41196368 C T 259533 single nucleotide variant NM_007294.3(BRCA1):c.*1327G>A 184237074 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43044351 43044351 C T 259534 deletion NM_007294.3(BRCA1):c.*873delA 397857709 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 43044805 43044805 T - 259534 deletion NM_007294.3(BRCA1):c.*873delA 397857709 MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145 17 41196822 41196822 T - 259535 duplication NM_007294.3(BRCA1):c.5467+885dup 370148636 MedGen:C2676676,OMIM:604370 17 43046758 43046758 A AA 259535 duplication NM_007294.3(BRCA1):c.5467+885dup 370148636 MedGen:C2676676,OMIM:604370 17 41198775 41198775 A AA 259536 single nucleotide variant NM_007294.3(BRCA1):c.5406+296G>A 73311445 MedGen:C2676676,OMIM:604370 17 43048825 43048825 C T 259536 single nucleotide variant NM_007294.3(BRCA1):c.5406+296G>A 73311445 MedGen:C2676676,OMIM:604370 17 41200842 41200842 C T 259537 single nucleotide variant NM_007294.3(BRCA1):c.5278-464G>A 545723152 MedGen:C2676676,OMIM:604370 17 41203598 41203598 C T 259537 single nucleotide variant NM_007294.3(BRCA1):c.5278-464G>A 545723152 MedGen:C2676676,OMIM:604370 17 43051581 43051581 C T 259538 single nucleotide variant NM_007294.3(BRCA1):c.5278-542G>A 139210193 MedGen:C2676676,OMIM:604370 17 41203676 41203676 C T 259538 single nucleotide variant NM_007294.3(BRCA1):c.5278-542G>A 139210193 MedGen:C2676676,OMIM:604370 17 43051659 43051659 C T 259539 deletion NM_007294.3(BRCA1):c.5278-550_5278-547del 538015792 MedGen:C2676676,OMIM:604370 17 43051664 43051667 TCTC - 259539 deletion NM_007294.3(BRCA1):c.5278-550_5278-547del 538015792 MedGen:C2676676,OMIM:604370 17 41203681 41203684 TCTC - 259540 single nucleotide variant NM_007294.3(BRCA1):c.5277+2938T>C 8176288 MedGen:C2676676,OMIM:604370 17 43054114 43054114 A G 259540 single nucleotide variant NM_007294.3(BRCA1):c.5277+2938T>C 8176288 MedGen:C2676676,OMIM:604370 17 41206131 41206131 A G 259541 deletion NM_007294.3(BRCA1):c.5277+2307del 11347376 MedGen:C2676676,OMIM:604370 17 41206762 41206762 T - 259541 deletion NM_007294.3(BRCA1):c.5277+2307del 11347376 MedGen:C2676676,OMIM:604370 17 43054745 43054745 T - 259542 single nucleotide variant NM_007294.3(BRCA1):c.5277+2029G>C 371465813 MedGen:C2676676,OMIM:604370 17 41207040 41207040 C G 259542 single nucleotide variant NM_007294.3(BRCA1):c.5277+2029G>C 371465813 MedGen:C2676676,OMIM:604370 17 43055023 43055023 C G 259543 single nucleotide variant NM_007294.3(BRCA1):c.5277+861G>A 372544924 MedGen:C2676676,OMIM:604370 17 41208208 41208208 C T 259543 single nucleotide variant NM_007294.3(BRCA1):c.5277+861G>A 372544924 MedGen:C2676676,OMIM:604370 17 43056191 43056191 C T 259544 single nucleotide variant NM_007294.3(BRCA1):c.5277+315T>C 183831660 MedGen:C2676676,OMIM:604370 17 41208754 41208754 A G 259544 single nucleotide variant NM_007294.3(BRCA1):c.5277+315T>C 183831660 MedGen:C2676676,OMIM:604370 17 43056737 43056737 A G 259545 single nucleotide variant NM_007294.3(BRCA1):c.5277+186T>C 8176284 MedGen:C2676676,OMIM:604370 17 43056866 43056866 A G 259545 single nucleotide variant NM_007294.3(BRCA1):c.5277+186T>C 8176284 MedGen:C2676676,OMIM:604370 17 41208883 41208883 A G 259546 single nucleotide variant NM_007294.3(BRCA1):c.5194-403T>A 559234080 MedGen:C2676676,OMIM:604370 17 43057538 43057538 A T 259546 single nucleotide variant NM_007294.3(BRCA1):c.5194-403T>A 559234080 MedGen:C2676676,OMIM:604370 17 41209555 41209555 A T 259547 duplication NM_007294.3(BRCA1):c.5194-2337_5194-2335dup 759021873 MedGen:C2676676,OMIM:604370 17 43059470 43059472 ACA ACAACA 259547 duplication NM_007294.3(BRCA1):c.5194-2337_5194-2335dup 759021873 MedGen:C2676676,OMIM:604370 17 41211487 41211489 ACA ACAACA 259548 single nucleotide variant NM_007294.3(BRCA1):c.5194-2381T>G 186594388 MedGen:C2676676,OMIM:604370 17 41211533 41211533 A C 259548 single nucleotide variant NM_007294.3(BRCA1):c.5194-2381T>G 186594388 MedGen:C2676676,OMIM:604370 17 43059516 43059516 A C 259549 single nucleotide variant NM_007294.3(BRCA1):c.5194-2912T>C 189676688 MedGen:C2676676,OMIM:604370 17 43060047 43060047 A G 259549 single nucleotide variant NM_007294.3(BRCA1):c.5194-2912T>C 189676688 MedGen:C2676676,OMIM:604370 17 41212064 41212064 A G 259550 single nucleotide variant NM_007294.3(BRCA1):c.5193+2582G>A 186421008 MedGen:C2676676,OMIM:604370 17 41212768 41212768 C T 259550 single nucleotide variant NM_007294.3(BRCA1):c.5193+2582G>A 186421008 MedGen:C2676676,OMIM:604370 17 43060751 43060751 C T 259551 deletion NM_007294.3(BRCA1):c.5193+1232_5193+1234del 536209322 MedGen:C2676676,OMIM:604370 17 43062099 43062101 TTT - 259551 deletion NM_007294.3(BRCA1):c.5193+1232_5193+1234del 536209322 MedGen:C2676676,OMIM:604370 17 41214116 41214118 TTT - 259552 duplication NM_007294.3(BRCA1):c.5152+188dup 542231412 MedGen:C2676676,OMIM:604370 17 41215703 41215703 T TT 259552 duplication NM_007294.3(BRCA1):c.5152+188dup 542231412 MedGen:C2676676,OMIM:604370 17 43063686 43063686 T TT 259553 single nucleotide variant NM_007294.3(BRCA1):c.5074+1618A>G 139038134 MedGen:C2676676,OMIM:604370 17 41218007 41218007 T C 259553 single nucleotide variant NM_007294.3(BRCA1):c.5074+1618A>G 139038134 MedGen:C2676676,OMIM:604370 17 43065990 43065990 T C 259554 single nucleotide variant NM_007294.3(BRCA1):c.5074+1388A>G 145654477 MedGen:C2676676,OMIM:604370 17 41218237 41218237 T C 259554 single nucleotide variant NM_007294.3(BRCA1):c.5074+1388A>G 145654477 MedGen:C2676676,OMIM:604370 17 43066220 43066220 T C 259555 single nucleotide variant NM_007294.3(BRCA1):c.5074+918G>C 8176238 MedGen:C2676676,OMIM:604370 17 43066690 43066690 C G 259555 single nucleotide variant NM_007294.3(BRCA1):c.5074+918G>C 8176238 MedGen:C2676676,OMIM:604370 17 41218707 41218707 C G 259556 single nucleotide variant NM_007294.3(BRCA1):c.5074+760G>A 533045755 MedGen:C2676676,OMIM:604370 17 41218865 41218865 C T 259556 single nucleotide variant NM_007294.3(BRCA1):c.5074+760G>A 533045755 MedGen:C2676676,OMIM:604370 17 43066848 43066848 C T 259557 single nucleotide variant NM_007294.3(BRCA1):c.4676-55C>T 545107728 MedGen:C2676676,OMIM:604370 17 41223310 41223310 G A 259557 single nucleotide variant NM_007294.3(BRCA1):c.4676-55C>T 545107728 MedGen:C2676676,OMIM:604370 17 43071293 43071293 G A 259558 insertion NM_007294.3(BRCA1):c.4676-284_4676-283insACAAGCATTGTTACAGTGAACATT 8176218 MedGen:C2676676,OMIM:604370 17 41223538 41223539 - AATGTTCACTGTAACAATGCTTGT 259558 insertion NM_007294.3(BRCA1):c.4676-284_4676-283insACAAGCATTGTTACAGTGAACATT 8176218 MedGen:C2676676,OMIM:604370 17 43071521 43071522 - AATGTTCACTGTAACAATGCTTGT 259559 duplication NM_007294.3(BRCA1):c.4675+1455dup 533819030 MedGen:C2676676,OMIM:604370 17 43072876 43072876 T TT 259559 duplication NM_007294.3(BRCA1):c.4675+1455dup 533819030 MedGen:C2676676,OMIM:604370 17 41224893 41224893 T TT 259560 single nucleotide variant NM_007294.3(BRCA1):c.4675+1392T>A 191530878 MedGen:C2676676,OMIM:604370 17 43072939 43072939 A T 259560 single nucleotide variant NM_007294.3(BRCA1):c.4675+1392T>A 191530878 MedGen:C2676676,OMIM:604370 17 41224956 41224956 A T 259561 deletion NM_007294.3(BRCA1):c.4485-413_4485-400del 566416929 MedGen:C2676676,OMIM:604370 17 43074921 43074934 GAAAGAAAGGAAAG - 259561 deletion NM_007294.3(BRCA1):c.4485-413_4485-400del 566416929 MedGen:C2676676,OMIM:604370 17 41226938 41226951 GAAAGAAAGGAAAG - 259562 duplication NM_007294.3(BRCA1):c.4358-722dup 68171917 MedGen:C2676676,OMIM:604370 17 43077336 43077336 T TT 259562 duplication NM_007294.3(BRCA1):c.4358-722dup 68171917 MedGen:C2676676,OMIM:604370 17 41229353 41229353 T TT 259563 single nucleotide variant NM_007294.3(BRCA1):c.4358-1132A>T 8176204 MedGen:C2676676,OMIM:604370 17 43077746 43077746 T A 259563 single nucleotide variant NM_007294.3(BRCA1):c.4358-1132A>T 8176204 MedGen:C2676676,OMIM:604370 17 41229763 41229763 T A 259564 single nucleotide variant NM_007294.3(BRCA1):c.4358-1142A>G 8176203 MedGen:C2676676,OMIM:604370 17 43077756 43077756 T C 259564 single nucleotide variant NM_007294.3(BRCA1):c.4358-1142A>G 8176203 MedGen:C2676676,OMIM:604370 17 41229773 41229773 T C 259565 single nucleotide variant NM_007294.3(BRCA1):c.4358-1194T>C 182653629 MedGen:C2676676,OMIM:604370 17 43077808 43077808 A G 259565 single nucleotide variant NM_007294.3(BRCA1):c.4358-1194T>C 182653629 MedGen:C2676676,OMIM:604370 17 41229825 41229825 A G 259566 deletion NM_007294.3(BRCA1):c.4358-1475del 35184764 MedGen:C2676676,OMIM:604370 17 41230106 41230106 T - 259566 deletion NM_007294.3(BRCA1):c.4358-1475del 35184764 MedGen:C2676676,OMIM:604370 17 43078089 43078089 T - 259567 single nucleotide variant NM_007294.3(BRCA1):c.4357+2313T>G 149328571 MedGen:C2676676,OMIM:604370 17 41232108 41232108 A C 259567 single nucleotide variant NM_007294.3(BRCA1):c.4357+2313T>G 149328571 MedGen:C2676676,OMIM:604370 17 43080091 43080091 A C 259568 single nucleotide variant NM_007294.3(BRCA1):c.4357+651A>G 530463308 MedGen:C2676676,OMIM:604370 17 41233770 41233770 T C 259568 single nucleotide variant NM_007294.3(BRCA1):c.4357+651A>G 530463308 MedGen:C2676676,OMIM:604370 17 43081753 43081753 T C 259569 single nucleotide variant NM_007294.3(BRCA1):c.4357+259A>G 543852008 MedGen:C2676676,OMIM:604370 17 43082145 43082145 T C 259569 single nucleotide variant NM_007294.3(BRCA1):c.4357+259A>G 543852008 MedGen:C2676676,OMIM:604370 17 41234162 41234162 T C 259570 duplication NM_007294.3(BRCA1):c.4186-591_4186-588dup 527906133 MedGen:C2676676,OMIM:604370 17 41235180 41235183 TTTC TTTCTTTC 259570 duplication NM_007294.3(BRCA1):c.4186-591_4186-588dup 527906133 MedGen:C2676676,OMIM:604370 17 43083163 43083166 TTTC TTTCTTTC 259571 deletion NM_007294.3(BRCA1):c.4186-1457del 571319167 MedGen:C2676676,OMIM:604370 17 41236049 41236049 T - 259571 deletion NM_007294.3(BRCA1):c.4186-1457del 571319167 MedGen:C2676676,OMIM:604370 17 43084032 43084032 T - 259572 single nucleotide variant NM_007294.3(BRCA1):c.4186-2187C>T 562679568 MedGen:C2676676,OMIM:604370 17 41236779 41236779 G A 259572 single nucleotide variant NM_007294.3(BRCA1):c.4186-2187C>T 562679568 MedGen:C2676676,OMIM:604370 17 43084762 43084762 G A 259573 duplication NM_007294.3(BRCA1):c.4186-3540_4186-3535dup 376686434 MedGen:C2676676,OMIM:604370 17 43086110 43086115 ACACAC ACACACACACAC 259573 duplication NM_007294.3(BRCA1):c.4186-3540_4186-3535dup 376686434 MedGen:C2676676,OMIM:604370 17 41238127 41238132 ACACAC ACACACACACAC 259574 single nucleotide variant NM_007294.3(BRCA1):c.4185+3334G>A 8176169 MedGen:C2676676,OMIM:604370 17 41239627 41239627 C T 259574 single nucleotide variant NM_007294.3(BRCA1):c.4185+3334G>A 8176169 MedGen:C2676676,OMIM:604370 17 43087610 43087610 C T 259575 deletion NM_007294.3(BRCA1):c.4185+3045del 144110800 MedGen:C2676676,OMIM:604370 17 41239916 41239916 T - 259575 deletion NM_007294.3(BRCA1):c.4185+3045del 144110800 MedGen:C2676676,OMIM:604370 17 43087899 43087899 T - 259576 single nucleotide variant NM_007294.3(BRCA1):c.4185+3033A>G 79996471 MedGen:C2676676,OMIM:604370 17 41239928 41239928 T C 259576 single nucleotide variant NM_007294.3(BRCA1):c.4185+3033A>G 79996471 MedGen:C2676676,OMIM:604370 17 43087911 43087911 T C 259577 single nucleotide variant NM_007294.3(BRCA1):c.4185+2981A>G 8176167 MedGen:C2676676,OMIM:604370 17 41239980 41239980 T C 259577 single nucleotide variant NM_007294.3(BRCA1):c.4185+2981A>G 8176167 MedGen:C2676676,OMIM:604370 17 43087963 43087963 T C 259578 duplication NM_007294.3(BRCA1):c.4185+201_4185+206dup 138544133 MedGen:C2676676,OMIM:604370 17 41242755 41242760 GTGCGC GTGCGCGTGCGC 259578 duplication NM_007294.3(BRCA1):c.4185+201_4185+206dup 138544133 MedGen:C2676676,OMIM:604370 17 43090738 43090743 GTGCGC GTGCGCGTGCGC 259579 duplication NM_007294.3(BRCA1):c.594-465_594-455dup 542961527 MedGen:C2676676,OMIM:604370 17 43096377 43096387 AAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAA 259579 duplication NM_007294.3(BRCA1):c.594-465_594-455dup 542961527 MedGen:C2676676,OMIM:604370 17 41248394 41248404 AAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAA 259580 single nucleotide variant NM_007294.3(BRCA1):c.594-458T>C 537806106 MedGen:C2676676,OMIM:604370 17 41248397 41248397 A G 259580 single nucleotide variant NM_007294.3(BRCA1):c.594-458T>C 537806106 MedGen:C2676676,OMIM:604370 17 43096380 43096380 A G 259581 single nucleotide variant NM_007294.3(BRCA1):c.594-622G>C 189108346 MedGen:C2676676,OMIM:604370 17 43096544 43096544 C G 259581 single nucleotide variant NM_007294.3(BRCA1):c.594-622G>C 189108346 MedGen:C2676676,OMIM:604370 17 41248561 41248561 C G 259582 deletion NM_007294.3(BRCA1):c.594-650del 34226398 MedGen:C2676676,OMIM:604370 17 43096572 43096572 A - 259582 deletion NM_007294.3(BRCA1):c.594-650del 34226398 MedGen:C2676676,OMIM:604370 17 41248589 41248589 A - 259583 single nucleotide variant NM_007294.3(BRCA1):c.593+357C>T 8176146 MedGen:C2676676,OMIM:604370 17 43096887 43096887 G A 259583 single nucleotide variant NM_007294.3(BRCA1):c.593+357C>T 8176146 MedGen:C2676676,OMIM:604370 17 41248904 41248904 G A 259584 deletion NM_007294.3(BRCA1):c.547+791del 577010874 MedGen:C2676676,OMIM:604370 17 43098984 43098984 T - 259584 deletion NM_007294.3(BRCA1):c.547+791del 577010874 MedGen:C2676676,OMIM:604370 17 41251001 41251001 T - 259585 duplication NM_007294.3(BRCA1):c.442-696_442-695dup 200639029 MedGen:C2676676,OMIM:604370 17 41252592 41252593 AT ATAT 259585 duplication NM_007294.3(BRCA1):c.442-696_442-695dup 200639029 MedGen:C2676676,OMIM:604370 17 43100575 43100576 AT ATAT 259586 deletion NM_007294.3(BRCA1):c.442-740_442-738del 538378944 MedGen:C2676676,OMIM:604370 17 43100618 43100620 AAC - 259586 deletion NM_007294.3(BRCA1):c.442-740_442-738del 538378944 MedGen:C2676676,OMIM:604370 17 41252635 41252637 AAC - 259587 insertion NM_007294.3(BRCA1):c.442-810_442-809insACA 574913562 MedGen:C2676676,OMIM:604370 17 41252706 41252707 - TGT 259587 insertion NM_007294.3(BRCA1):c.442-810_442-809insACA 574913562 MedGen:C2676676,OMIM:604370 17 43100689 43100690 - TGT 259588 single nucleotide variant NM_007294.3(BRCA1):c.441+2009G>A 545752115 MedGen:C2676676,OMIM:604370 17 43102113 43102113 C T 259588 single nucleotide variant NM_007294.3(BRCA1):c.441+2009G>A 545752115 MedGen:C2676676,OMIM:604370 17 41254130 41254130 C T 259589 single nucleotide variant NM_007294.3(BRCA1):c.441+1734G>A 10445303 MedGen:C2676676,OMIM:604370 17 41254405 41254405 C T 259589 single nucleotide variant NM_007294.3(BRCA1):c.441+1734G>A 10445303 MedGen:C2676676,OMIM:604370 17 43102388 43102388 C T 259590 single nucleotide variant NM_007294.3(BRCA1):c.441+1383T>A 537597375 MedGen:C2676676,OMIM:604370 17 43102739 43102739 A T 259590 single nucleotide variant NM_007294.3(BRCA1):c.441+1383T>A 537597375 MedGen:C2676676,OMIM:604370 17 41254756 41254756 A T 259591 single nucleotide variant NM_007294.3(BRCA1):c.441+1382A>T 556333401 MedGen:C2676676,OMIM:604370 17 41254757 41254757 T A 259591 single nucleotide variant NM_007294.3(BRCA1):c.441+1382A>T 556333401 MedGen:C2676676,OMIM:604370 17 43102740 43102740 T A 259592 duplication NM_007294.3(BRCA1):c.441+1173dup 36085989 MedGen:C2676676,OMIM:604370 17 41254966 41254966 T TT 259592 duplication NM_007294.3(BRCA1):c.441+1173dup 36085989 MedGen:C2676676,OMIM:604370 17 43102949 43102949 T TT 259593 deletion NM_007294.3(BRCA1):c.441+52_441+63del 536390258 MedGen:C2676676,OMIM:604370 17 41256076 41256087 AAAAAAAAAAAG - 259593 deletion NM_007294.3(BRCA1):c.441+52_441+63del 536390258 MedGen:C2676676,OMIM:604370 17 43104059 43104070 AAAAAAAAAAAG - 259594 single nucleotide variant NM_007294.3(BRCA1):c.302-41T>C 8176135 MedGen:C2676676,OMIM:604370 17 43104302 43104302 A G 259594 single nucleotide variant NM_007294.3(BRCA1):c.302-41T>C 8176135 MedGen:C2676676,OMIM:604370 17 41256319 41256319 A G 259595 single nucleotide variant NM_007294.3(BRCA1):c.135-332C>T 186268206 MedGen:C2676676,OMIM:604370 17 43106865 43106865 G A 259595 single nucleotide variant NM_007294.3(BRCA1):c.135-332C>T 186268206 MedGen:C2676676,OMIM:604370 17 41258882 41258882 G A 259596 single nucleotide variant NM_007294.3(BRCA1):c.135-563C>T 575589035 MedGen:C2676676,OMIM:604370 17 43107096 43107096 G A 259596 single nucleotide variant NM_007294.3(BRCA1):c.135-563C>T 575589035 MedGen:C2676676,OMIM:604370 17 41259113 41259113 G A 259597 duplication NM_007294.3(BRCA1):c.135-1803dup 34608699 MedGen:C2676676,OMIM:604370 17 43108336 43108336 A AA 259597 duplication NM_007294.3(BRCA1):c.135-1803dup 34608699 MedGen:C2676676,OMIM:604370 17 41260353 41260353 A AA 259598 duplication NM_007294.3(BRCA1):c.135-2524_135-2509dup 146934045 MedGen:C2676676,OMIM:604370 17 43109042 43109057 na na 259598 duplication NM_007294.3(BRCA1):c.135-2524_135-2509dup 146934045 MedGen:C2676676,OMIM:604370 17 41261059 41261074 na na 259599 single nucleotide variant NM_007294.3(BRCA1):c.135-3390G>A 187354131 MedGen:C2676676,OMIM:604370 17 41261940 41261940 C T 259599 single nucleotide variant NM_007294.3(BRCA1):c.135-3390G>A 187354131 MedGen:C2676676,OMIM:604370 17 43109923 43109923 C T 259600 single nucleotide variant NM_007294.3(BRCA1):c.134+3004G>A 55737636 MedGen:C2676676,OMIM:604370 17 43112722 43112722 C T 259600 single nucleotide variant NM_007294.3(BRCA1):c.134+3004G>A 55737636 MedGen:C2676676,OMIM:604370 17 41264739 41264739 C T 259601 deletion NM_007294.3(BRCA1):c.134+3001_134+3002del 55820479 MedGen:C2676676,OMIM:604370 17 43112724 43112725 GA - 259601 deletion NM_007294.3(BRCA1):c.134+3001_134+3002del 55820479 MedGen:C2676676,OMIM:604370 17 41264741 41264742 GA - 259602 deletion NM_007294.3(BRCA1):c.134+2999del 374842106 MedGen:C2676676,OMIM:604370 17 41264744 41264744 T - 259602 deletion NM_007294.3(BRCA1):c.134+2999del 374842106 MedGen:C2676676,OMIM:604370 17 43112727 43112727 T - 259603 single nucleotide variant NM_007294.3(BRCA1):c.134+2994G>C 377611452 MedGen:C2676676,OMIM:604370 17 43112732 43112732 C G 259603 single nucleotide variant NM_007294.3(BRCA1):c.134+2994G>C 377611452 MedGen:C2676676,OMIM:604370 17 41264749 41264749 C G 259604 single nucleotide variant NM_007294.3(BRCA1):c.134+2993T>A 371133200 MedGen:C2676676,OMIM:604370 17 43112733 43112733 A T 259604 single nucleotide variant NM_007294.3(BRCA1):c.134+2993T>A 371133200 MedGen:C2676676,OMIM:604370 17 41264750 41264750 A T 259605 single nucleotide variant NM_007294.3(BRCA1):c.134+2990G>A 375673256 MedGen:C2676676,OMIM:604370 17 41264753 41264753 C T 259605 single nucleotide variant NM_007294.3(BRCA1):c.134+2990G>A 375673256 MedGen:C2676676,OMIM:604370 17 43112736 43112736 C T 259606 deletion NM_007294.3(BRCA1):c.134+2983_134+2987del 67177158 MedGen:C2676676,OMIM:604370 17 43112739 43112743 GAAAC - 259606 deletion NM_007294.3(BRCA1):c.134+2983_134+2987del 67177158 MedGen:C2676676,OMIM:604370 17 41264756 41264760 GAAAC - 259607 deletion NM_007294.3(BRCA1):c.134+2359_134+2363del 139811854 MedGen:C2676676,OMIM:604370 17 43113363 43113367 TTTTC - 259607 deletion NM_007294.3(BRCA1):c.134+2359_134+2363del 139811854 MedGen:C2676676,OMIM:604370 17 41265380 41265384 TTTTC - 259608 duplication NM_007294.3(BRCA1):c.134+1651dup 541592598 MedGen:C2676676,OMIM:604370 17 41266092 41266092 A AA 259608 duplication NM_007294.3(BRCA1):c.134+1651dup 541592598 MedGen:C2676676,OMIM:604370 17 43114075 43114075 A AA 259609 duplication NM_007294.3(BRCA1):c.134+1335dup 554373226 MedGen:C2676676,OMIM:604370 17 41266408 41266408 T TT 259609 duplication NM_007294.3(BRCA1):c.134+1335dup 554373226 MedGen:C2676676,OMIM:604370 17 43114391 43114391 T TT 259610 deletion NM_007294.3(BRCA1):c.134+224del 35149296 MedGen:C2676676,OMIM:604370 17 41267519 41267519 A - 259610 deletion NM_007294.3(BRCA1):c.134+224del 35149296 MedGen:C2676676,OMIM:604370 17 43115502 43115502 A - 259611 duplication NM_007294.3(BRCA1):c.81-414_81-413dup 8176097 MedGen:C2676676,OMIM:604370 17 41268209 41268210 TT TTTT 259611 duplication NM_007294.3(BRCA1):c.81-414_81-413dup 8176097 MedGen:C2676676,OMIM:604370 17 43116192 43116193 TT TTTT 259612 duplication NM_007294.3(BRCA1):c.81-413dup 8176097 MedGen:C2676676,OMIM:604370 17 43116192 43116192 T TT 259612 duplication NM_007294.3(BRCA1):c.81-413dup 8176097 MedGen:C2676676,OMIM:604370 17 41268209 41268209 T TT 259613 single nucleotide variant NM_007294.3(BRCA1):c.81-508A>C 562162183 MedGen:C2676676,OMIM:604370 17 43116287 43116287 T G 259613 single nucleotide variant NM_007294.3(BRCA1):c.81-508A>C 562162183 MedGen:C2676676,OMIM:604370 17 41268304 41268304 T G 259614 single nucleotide variant NM_007294.3(BRCA1):c.81-1947A>G 190387252 MedGen:C2676676,OMIM:604370 17 43117726 43117726 T C 259614 single nucleotide variant NM_007294.3(BRCA1):c.81-1947A>G 190387252 MedGen:C2676676,OMIM:604370 17 41269743 41269743 T C 259615 duplication NM_007294.3(BRCA1):c.81-2983dup 35150209 MedGen:C2676676,OMIM:604370 17 43118762 43118762 T TT 259615 duplication NM_007294.3(BRCA1):c.81-2983dup 35150209 MedGen:C2676676,OMIM:604370 17 41270779 41270779 T TT 259616 single nucleotide variant NM_007294.3(BRCA1):c.80+4068T>C 532039683 MedGen:C2676676,OMIM:604370 17 43119949 43119949 A G 259616 single nucleotide variant NM_007294.3(BRCA1):c.80+4068T>C 532039683 MedGen:C2676676,OMIM:604370 17 41271966 41271966 A G 259617 single nucleotide variant NM_007294.3(BRCA1):c.80+1470A>T 541281969 MedGen:C2676676,OMIM:604370 17 41274564 41274564 T A 259617 single nucleotide variant NM_007294.3(BRCA1):c.80+1470A>T 541281969 MedGen:C2676676,OMIM:604370 17 43122547 43122547 T A 259618 deletion NM_007294.3(BRCA1):c.-19-85_-19-81del 56209245 MedGen:C2676676,OMIM:604370 17 43124196 43124200 TAAAG - 259618 deletion NM_007294.3(BRCA1):c.-19-85_-19-81del 56209245 MedGen:C2676676,OMIM:604370 17 41276213 41276217 TAAAG - 259619 deletion NM_007294.3(BRCA1):c.-20+519_-20+523del 572878542 MedGen:C2676676,OMIM:604370 17 43124748 43124752 TTTTG - 259619 deletion NM_007294.3(BRCA1):c.-20+519_-20+523del 572878542 MedGen:C2676676,OMIM:604370 17 41276765 41276769 TTTTG - 260169 deletion NM_007294.3(BRCA1):c.5569delC (p.Gln1857Argfs) 886039675 MedGen:CN221809 17 41197718 41197718 G - 260169 deletion NM_007294.3(BRCA1):c.5569delC (p.Gln1857Argfs) 886039675 MedGen:CN221809 17 43045701 43045701 G - 260170 single nucleotide variant NM_007294.3(BRCA1):c.5296A>G (p.Ile1766Val) 886039314 MedGen:CN169374 17 41203116 41203116 T C 260170 single nucleotide variant NM_007294.3(BRCA1):c.5296A>G (p.Ile1766Val) 886039314 MedGen:CN169374 17 43051099 43051099 T C 260171 single nucleotide variant NM_007294.3(BRCA1):c.5153-6C>T 80358129 MedGen:CN169374 17 41215396 41215396 G A 260171 single nucleotide variant NM_007294.3(BRCA1):c.5153-6C>T 80358129 MedGen:CN169374 17 43063379 43063379 G A 260172 single nucleotide variant NM_007294.3(BRCA1):c.4016A>G (p.Glu1339Gly) 886039313 MedGen:CN169374 17 41243532 41243532 T C 260172 single nucleotide variant NM_007294.3(BRCA1):c.4016A>G (p.Glu1339Gly) 886039313 MedGen:CN169374 17 43091515 43091515 T C 260173 single nucleotide variant NM_007294.3(BRCA1):c.3106T>C (p.Phe1036Leu) 766381694 MedGen:CN169374 17 41244442 41244442 A G 260173 single nucleotide variant NM_007294.3(BRCA1):c.3106T>C (p.Phe1036Leu) 766381694 MedGen:CN169374 17 43092425 43092425 A G 260174 deletion NM_007294.3(BRCA1):c.848_879del32 (p.Leu283Terfs) 886039501 MedGen:CN221809 17 41246669 41246700 AGTGAGTAATAAACTGCTGTTCTCATGCTGTA - 260174 deletion NM_007294.3(BRCA1):c.848_879del32 (p.Leu283Terfs) 886039501 MedGen:CN221809 17 43094652 43094683 na na 260175 single nucleotide variant NM_007294.3(BRCA1):c.-20G>A 886039588 MedGen:CN169374 17 41277288 41277288 C T 260175 single nucleotide variant NM_007294.3(BRCA1):c.-20G>A 886039588 MedGen:CN169374 17 43125271 43125271 C T 261562 deletion NM_007294.3(BRCA1):c.5556_5560delCTACC (p.Tyr1853Aspfs) 886040305 MedGen:C2676676,OMIM:604370 17 43045710 43045714 GGTAG - 261562 deletion NM_007294.3(BRCA1):c.5556_5560delCTACC (p.Tyr1853Aspfs) 886040305 MedGen:C2676676,OMIM:604370 17 41197727 41197731 GGTAG - 261563 deletion NM_007294.3(BRCA1):c.5560delC (p.Leu1854Terfs) 886040306 MedGen:C2676676,OMIM:604370 17 43045710 43045710 G - 261563 deletion NM_007294.3(BRCA1):c.5560delC (p.Leu1854Terfs) 886040306 MedGen:C2676676,OMIM:604370 17 41197727 41197727 G - 261564 deletion NM_007294.3(BRCA1):c.5537_5556del20 (p.Gln1846Leufs) 886040302 MedGen:C2676676,OMIM:604370 17 41197731 41197750 na na 261564 deletion NM_007294.3(BRCA1):c.5537_5556del20 (p.Gln1846Leufs) 886040302 MedGen:C2676676,OMIM:604370 17 43045714 43045733 na na 261565 deletion NM_007294.3(BRCA1):c.5551delG (p.Asp1851Thrfs) 886040304 MedGen:C2676676,OMIM:604370 17 43045719 43045719 C - 261565 deletion NM_007294.3(BRCA1):c.5551delG (p.Asp1851Thrfs) 886040304 MedGen:C2676676,OMIM:604370 17 41197736 41197736 C - 261566 single nucleotide variant NM_007294.3(BRCA1):c.5542C>T (p.Gln1848Ter) 886040303 MedGen:C2676676,OMIM:604370 17 43045728 43045728 G A 261566 single nucleotide variant NM_007294.3(BRCA1):c.5542C>T (p.Gln1848Ter) 886040303 MedGen:C2676676,OMIM:604370 17 41197745 41197745 G A 261567 deletion NM_007294.3(BRCA1):c.5536delC (p.Gln1846Serfs) 886040301 MedGen:C2676676,OMIM:604370 17 43045734 43045734 G - 261567 deletion NM_007294.3(BRCA1):c.5536delC (p.Gln1846Serfs) 886040301 MedGen:C2676676,OMIM:604370 17 41197751 41197751 G - 261568 single nucleotide variant NM_007294.3(BRCA1):c.5535C>G (p.Tyr1845Ter) 80356977 MedGen:C2676676,OMIM:604370 17 43045735 43045735 G C 261568 single nucleotide variant NM_007294.3(BRCA1):c.5535C>G (p.Tyr1845Ter) 80356977 MedGen:C2676676,OMIM:604370 17 41197752 41197752 G C 261569 deletion NM_007294.3(BRCA1):c.5486_5510del25 (p.Glu1829Glyfs) 886040297 MedGen:C2676676,OMIM:604370 17 43045760 43045784 na na 261569 deletion NM_007294.3(BRCA1):c.5486_5510del25 (p.Glu1829Glyfs) 886040297 MedGen:C2676676,OMIM:604370 17 41197777 41197801 na na 261570 deletion NM_007294.3(BRCA1):c.5503_5506delCGAG (p.Arg1835Serfs) 886040300 MedGen:C2676676,OMIM:604370 17 43045764 43045767 CTCG - 261570 deletion NM_007294.3(BRCA1):c.5503_5506delCGAG (p.Arg1835Serfs) 886040300 MedGen:C2676676,OMIM:604370 17 41197781 41197784 CTCG - 261571 duplication NM_007294.3(BRCA1):c.5502_5503dupCC (p.Arg1835Profs) 886040299 MedGen:C2676676,OMIM:604370 17 41197784 41197785 GG GGGG 261571 duplication NM_007294.3(BRCA1):c.5502_5503dupCC (p.Arg1835Profs) 886040299 MedGen:C2676676,OMIM:604370 17 43045767 43045768 GG GGGG 261572 duplication NM_007294.3(BRCA1):c.5503dupC (p.Arg1835Profs) 886040299 MedGen:C2676676,OMIM:604370 17 43045767 43045767 G GG 261572 duplication NM_007294.3(BRCA1):c.5503dupC (p.Arg1835Profs) 886040299 MedGen:C2676676,OMIM:604370 17 41197784 41197784 G GG 261573 insertion NM_007294.3(BRCA1):c.5493_5494insTT (p.Val1832Leufs) 886040298 MedGen:C2676676,OMIM:604370 17 43045776 43045777 - AA 261573 insertion NM_007294.3(BRCA1):c.5493_5494insTT (p.Val1832Leufs) 886040298 MedGen:C2676676,OMIM:604370 17 41197793 41197794 - AA 261574 duplication NM_007294.3(BRCA1):c.5419dupA (p.Ile1807Asnfs) 886040296 MedGen:C2676676,OMIM:604370 17 41199708 41199708 T TT 261574 duplication NM_007294.3(BRCA1):c.5419dupA (p.Ile1807Asnfs) 886040296 MedGen:C2676676,OMIM:604370 17 43047691 43047691 T TT 261575 single nucleotide variant NM_007294.3(BRCA1):c.5390C>G (p.Ser1797Ter) 879255492 MedGen:C2676676,OMIM:604370 17 41201154 41201154 G C 261575 single nucleotide variant NM_007294.3(BRCA1):c.5390C>G (p.Ser1797Ter) 879255492 MedGen:C2676676,OMIM:604370 17 43049137 43049137 G C 261576 duplication NM_007294.3(BRCA1):c.5389dupT (p.Ser1797Phefs) 886040295 MedGen:C2676676,OMIM:604370 17 41201155 41201155 A AA 261576 duplication NM_007294.3(BRCA1):c.5389dupT (p.Ser1797Phefs) 886040295 MedGen:C2676676,OMIM:604370 17 43049138 43049138 A AA 261577 deletion NM_007294.3(BRCA1):c.5361_5362delTG (p.Cys1787Trpfs) 886040294 MedGen:C2676676,OMIM:604370 17 43049165 43049166 CA - 261577 deletion NM_007294.3(BRCA1):c.5361_5362delTG (p.Cys1787Trpfs) 886040294 MedGen:C2676676,OMIM:604370 17 41201182 41201183 CA - 261578 duplication NM_007294.3(BRCA1):c.5353_5354dupCA (p.Gln1785Hisfs) 886040293 MedGen:C2676676,OMIM:604370 17 43049173 43049174 TG TGTG 261578 duplication NM_007294.3(BRCA1):c.5353_5354dupCA (p.Gln1785Hisfs) 886040293 MedGen:C2676676,OMIM:604370 17 41201190 41201191 TG TGTG 261579 deletion NM_007294.3(BRCA1):c.5348delT (p.Met1783Argfs) 886040292 MedGen:C2676676,OMIM:604370 17 43049179 43049179 A - 261579 deletion NM_007294.3(BRCA1):c.5348delT (p.Met1783Argfs) 886040292 MedGen:C2676676,OMIM:604370 17 41201196 41201196 A - 261580 indel NM_007294.3(BRCA1):c.5341_5343delGAAinsTG (p.Glu1781Cysfs) 886040291 MedGen:C2676676,OMIM:604370 17 43049184 43049186 TTC CA 261580 indel NM_007294.3(BRCA1):c.5341_5343delGAAinsTG (p.Glu1781Cysfs) 886040291 MedGen:C2676676,OMIM:604370 17 41201201 41201203 TTC CA 261581 deletion NM_007294.3(BRCA1):c.5302delT (p.Cys1768Alafs) 886040289 MedGen:C2676676,OMIM:604370 17 43051093 43051093 A - 261581 deletion NM_007294.3(BRCA1):c.5302delT (p.Cys1768Alafs) 886040289 MedGen:C2676676,OMIM:604370 17 41203110 41203110 A - 261582 single nucleotide variant NM_007294.3(BRCA1):c.5301T>A (p.Cys1767Ter) 886040288 MedGen:C2676676,OMIM:604370 17 41203111 41203111 A T 261582 single nucleotide variant NM_007294.3(BRCA1):c.5301T>A (p.Cys1767Ter) 886040288 MedGen:C2676676,OMIM:604370 17 43051094 43051094 A T 261583 deletion NM_007294.3(BRCA1):c.5300_5301delGT (p.Cys1767Leufs) 886040287 MedGen:C2676676,OMIM:604370 17 41203111 41203112 AC - 261583 deletion NM_007294.3(BRCA1):c.5300_5301delGT (p.Cys1767Leufs) 886040287 MedGen:C2676676,OMIM:604370 17 43051094 43051095 AC - 261584 deletion NM_007294.3(BRCA1):c.5299delT (p.Cys1767Valfs) 886040286 MedGen:C2676676,OMIM:604370 17 41203113 41203113 A - 261584 deletion NM_007294.3(BRCA1):c.5299delT (p.Cys1767Valfs) 886040286 MedGen:C2676676,OMIM:604370 17 43051096 43051096 A - 261585 deletion NM_007294.3(BRCA1):c.5282delT (p.Phe1761Serfs) 886040285 MedGen:C2676676,OMIM:604370 17 41203130 41203130 A - 261585 deletion NM_007294.3(BRCA1):c.5282delT (p.Phe1761Serfs) 886040285 MedGen:C2676676,OMIM:604370 17 43051113 43051113 A - 261586 insertion NM_007294.3(BRCA1):c.5267_5268insC (p.Gln1756Hisfs) 886040284 MedGen:C2676676,OMIM:604370 17 41209078 41209079 - G 261586 insertion NM_007294.3(BRCA1):c.5267_5268insC (p.Gln1756Hisfs) 886040284 MedGen:C2676676,OMIM:604370 17 43057061 43057062 - G 261587 indel NM_007294.3(BRCA1):c.5208_5247del40insTC (p.Arg1737Glnfs) 886040277 MedGen:C2676676,OMIM:604370 17 41209099 41209138 na GA 261587 indel NM_007294.3(BRCA1):c.5208_5247del40insTC (p.Arg1737Glnfs) 886040277 MedGen:C2676676,OMIM:604370 17 43057082 43057121 na GA 261588 deletion NM_007294.3(BRCA1):c.5239delC (p.Gln1747Lysfs) 886040282 MedGen:C2676676,OMIM:604370 17 43057090 43057090 G - 261588 deletion NM_007294.3(BRCA1):c.5239delC (p.Gln1747Lysfs) 886040282 MedGen:C2676676,OMIM:604370 17 41209107 41209107 G - 261589 duplication NM_007294.3(BRCA1):c.5239dupC (p.Gln1747Profs) 886040283 MedGen:C2676676,OMIM:604370 17 43057090 43057090 G GG 261589 duplication NM_007294.3(BRCA1):c.5239dupC (p.Gln1747Profs) 886040283 MedGen:C2676676,OMIM:604370 17 41209107 41209107 G GG 261590 deletion NM_007294.3(BRCA1):c.5230_5237delAGAAACCA (p.Arg1744Profs) 886040281 MedGen:C2676676,OMIM:604370 17 43057092 43057099 TGGTTTCT - 261590 deletion NM_007294.3(BRCA1):c.5230_5237delAGAAACCA (p.Arg1744Profs) 886040281 MedGen:C2676676,OMIM:604370 17 41209109 41209116 TGGTTTCT - 261591 deletion NM_007294.3(BRCA1):c.5221_5224delGTCA (p.Val1741Metfs) 886040280 MedGen:C2676676,OMIM:604370 17 43057105 43057108 TGAC - 261591 deletion NM_007294.3(BRCA1):c.5221_5224delGTCA (p.Val1741Metfs) 886040280 MedGen:C2676676,OMIM:604370 17 41209122 41209125 TGAC - 261592 deletion NM_007294.3(BRCA1):c.5213delG (p.Gly1738Glufs) 886040279 MedGen:C2676676,OMIM:604370 17 43057116 43057116 C - 261592 deletion NM_007294.3(BRCA1):c.5213delG (p.Gly1738Glufs) 886040279 MedGen:C2676676,OMIM:604370 17 41209133 41209133 C - 261593 single nucleotide variant NM_007294.3(BRCA1):c.5212G>T (p.Gly1738Ter) 80356937 MedGen:C2676676,OMIM:604370 17 43057117 43057117 C A 261593 single nucleotide variant NM_007294.3(BRCA1):c.5212G>T (p.Gly1738Ter) 80356937 MedGen:C2676676,OMIM:604370 17 41209134 41209134 C A 261594 duplication NM_007294.3(BRCA1):c.5209dupA (p.Arg1737Lysfs) 886040278 MedGen:C2676676,OMIM:604370 17 43057120 43057120 T TT 261594 duplication NM_007294.3(BRCA1):c.5209dupA (p.Arg1737Lysfs) 886040278 MedGen:C2676676,OMIM:604370 17 41209137 41209137 T TT 261595 deletion NM_007294.3(BRCA1):c.5161_5165delCAGTC (p.Gln1721Tyrfs) 886040274 MedGen:C2676676,OMIM:604370 17 41215378 41215382 GACTG - 261595 deletion NM_007294.3(BRCA1):c.5161_5165delCAGTC (p.Gln1721Tyrfs) 886040274 MedGen:C2676676,OMIM:604370 17 43063361 43063365 GACTG - 261596 insertion NM_007294.3(BRCA1):c.5163_5164insC (p.Ser1722Leufs) 886040275 MedGen:C2676676,OMIM:604370 17 43063362 43063363 - G 261596 insertion NM_007294.3(BRCA1):c.5163_5164insC (p.Ser1722Leufs) 886040275 MedGen:C2676676,OMIM:604370 17 41215379 41215380 - G 261597 single nucleotide variant NM_007294.3(BRCA1):c.5161C>T (p.Gln1721Ter) 878854957 MedGen:C2676676,OMIM:604370 17 41215382 41215382 G A 261597 single nucleotide variant NM_007294.3(BRCA1):c.5161C>T (p.Gln1721Ter) 878854957 MedGen:C2676676,OMIM:604370 17 43063365 43063365 G A 261598 duplication NM_007294.3(BRCA1):c.5155dupG (p.Val1719Glyfs) 886040273 MedGen:C2676676,OMIM:604370 17 43063371 43063371 C CC 261598 duplication NM_007294.3(BRCA1):c.5155dupG (p.Val1719Glyfs) 886040273 MedGen:C2676676,OMIM:604370 17 41215388 41215388 C CC 261599 single nucleotide variant NM_007294.3(BRCA1):c.5148T>A (p.Tyr1716Ter) 397509230 MedGen:C2676676,OMIM:604370 17 43063878 43063878 A T 261599 single nucleotide variant NM_007294.3(BRCA1):c.5148T>A (p.Tyr1716Ter) 397509230 MedGen:C2676676,OMIM:604370 17 41215895 41215895 A T 261600 single nucleotide variant NM_007294.3(BRCA1):c.5131A>T (p.Lys1711Ter) 886040272 MedGen:C2676676,OMIM:604370 17 43063895 43063895 T A 261600 single nucleotide variant NM_007294.3(BRCA1):c.5131A>T (p.Lys1711Ter) 886040272 MedGen:C2676676,OMIM:604370 17 41215912 41215912 T A 261601 deletion NM_007294.3(BRCA1):c.5114_5121delTAGGAATT (p.Leu1705Argfs) 886040271 MedGen:C2676676,OMIM:604370 17 41215922 41215929 AATTCCTA - 261601 deletion NM_007294.3(BRCA1):c.5114_5121delTAGGAATT (p.Leu1705Argfs) 886040271 MedGen:C2676676,OMIM:604370 17 43063905 43063912 AATTCCTA - 261602 insertion NM_007294.3(BRCA1):c.5083_5084insG (p.Phe1695Cysfs) 886040270 MedGen:C2676676,OMIM:604370 17 43063942 43063943 - C 261602 insertion NM_007294.3(BRCA1):c.5083_5084insG (p.Phe1695Cysfs) 886040270 MedGen:C2676676,OMIM:604370 17 41215959 41215960 - C 261603 deletion NM_007294.3(BRCA1):c.5076delT (p.Asp1692Glufs) 886040269 MedGen:C2676676,OMIM:604370 17 43063950 43063950 A - 261603 deletion NM_007294.3(BRCA1):c.5076delT (p.Asp1692Glufs) 886040269 MedGen:C2676676,OMIM:604370 17 41215967 41215967 A - 261604 deletion NM_007294.3(BRCA1):c.4987_5074del88 (p.Val1665Serfs) -1 MedGen:C2676676,OMIM:604370 17 43067608 43067695 na na 261604 deletion NM_007294.3(BRCA1):c.4987_5074del88 (p.Val1665Serfs) -1 MedGen:C2676676,OMIM:604370 17 41219625 41219712 na na 261605 duplication NM_007294.3(BRCA1):c.5065dupA (p.Met1689Asnfs) 886040268 MedGen:C2676676,OMIM:604370 17 41219634 41219634 T TT 261605 duplication NM_007294.3(BRCA1):c.5065dupA (p.Met1689Asnfs) 886040268 MedGen:C2676676,OMIM:604370 17 43067617 43067617 T TT 261606 insertion NM_007294.3(BRCA1):c.5058_5059insCAAC (p.Val1687Glnfs) 886040267 MedGen:C2676676,OMIM:604370 17 43067623 43067624 - GTTG 261606 insertion NM_007294.3(BRCA1):c.5058_5059insCAAC (p.Val1687Glnfs) 886040267 MedGen:C2676676,OMIM:604370 17 41219640 41219641 - GTTG 261607 indel NM_007294.3(BRCA1):c.5044_5048delGAAGAinsT (p.Glu1682Terfs) 886040266 MedGen:C2676676,OMIM:604370 17 43067634 43067638 TCTTC A 261607 indel NM_007294.3(BRCA1):c.5044_5048delGAAGAinsT (p.Glu1682Terfs) 886040266 MedGen:C2676676,OMIM:604370 17 41219651 41219655 TCTTC A 261608 insertion NM_007294.3(BRCA1):c.5041_5042insTTAA (p.Thr1681Ilefs) 886040264 MedGen:C2676676,OMIM:604370 17 43067640 43067641 - TTAA 261608 insertion NM_007294.3(BRCA1):c.5041_5042insTTAA (p.Thr1681Ilefs) 886040264 MedGen:C2676676,OMIM:604370 17 41219657 41219658 - TTAA 261609 deletion NM_007294.3(BRCA1):c.5042delC (p.Thr1681Metfs) 886040265 MedGen:C2676676,OMIM:604370 17 43067640 43067640 G - 261609 deletion NM_007294.3(BRCA1):c.5042delC (p.Thr1681Metfs) 886040265 MedGen:C2676676,OMIM:604370 17 41219657 41219657 G - 261610 duplication NM_007294.3(BRCA1):c.5038_5041dupATTA (p.Thr1681Asnfs) 886040264 MedGen:C2676676,OMIM:604370 17 41219658 41219661 TAAT TAATTAAT 261610 duplication NM_007294.3(BRCA1):c.5038_5041dupATTA (p.Thr1681Asnfs) 886040264 MedGen:C2676676,OMIM:604370 17 43067641 43067644 TAAT TAATTAAT 261611 duplication NM_007294.3(BRCA1):c.5030_5033dupCTAA (p.Leu1679Terfs) 483353098 MedGen:C2676676,OMIM:604370 17 41219666 41219669 TTAG TTAGTTAG 261611 duplication NM_007294.3(BRCA1):c.5030_5033dupCTAA (p.Leu1679Terfs) 483353098 MedGen:C2676676,OMIM:604370 17 43067649 43067652 TTAG TTAGTTAG 261612 single nucleotide variant NM_007294.3(BRCA1):c.5027T>A (p.Leu1676Ter) 786203754 MedGen:C2676676,OMIM:604370 17 43067655 43067655 A T 261612 single nucleotide variant NM_007294.3(BRCA1):c.5027T>A (p.Leu1676Ter) 786203754 MedGen:C2676676,OMIM:604370 17 41219672 41219672 A T 261613 deletion NM_007294.3(BRCA1):c.5026_5027delTT (p.Leu1676Asnfs) 886040261 MedGen:C2676676,OMIM:604370 17 43067655 43067656 AA - 261613 deletion NM_007294.3(BRCA1):c.5026_5027delTT (p.Leu1676Asnfs) 886040261 MedGen:C2676676,OMIM:604370 17 41219672 41219673 AA - 261614 deletion NM_007294.3(BRCA1):c.5027delT (p.Leu1676Terfs) 886040262 MedGen:C2676676,OMIM:604370 17 41219672 41219672 A - 261614 deletion NM_007294.3(BRCA1):c.5027delT (p.Leu1676Terfs) 886040262 MedGen:C2676676,OMIM:604370 17 43067655 43067655 A - 261615 deletion NM_007294.3(BRCA1):c.5019delC (p.His1673Glnfs) 886040260 MedGen:C2676676,OMIM:604370 17 41219680 41219680 G - 261615 deletion NM_007294.3(BRCA1):c.5019delC (p.His1673Glnfs) 886040260 MedGen:C2676676,OMIM:604370 17 43067663 43067663 G - 261616 duplication NM_007294.3(BRCA1):c.5013dupA (p.His1672Thrfs) 886040259 MedGen:C2676676,OMIM:604370 17 43067669 43067669 T TT 261616 duplication NM_007294.3(BRCA1):c.5013dupA (p.His1672Thrfs) 886040259 MedGen:C2676676,OMIM:604370 17 41219686 41219686 T TT 261617 duplication NM_007294.3(BRCA1):c.4995_5007dupGTACAAGTTTGCC (p.Arg1670Valfs) 483353097 MedGen:C2676676,OMIM:604370 17 43067675 43067687 GGCAAACTTGTAC GGCAAACTTGTACGGCAAACTTGTAC 261617 duplication NM_007294.3(BRCA1):c.4995_5007dupGTACAAGTTTGCC (p.Arg1670Valfs) 483353097 MedGen:C2676676,OMIM:604370 17 41219692 41219704 GGCAAACTTGTAC GGCAAACTTGTACGGCAAACTTGTAC 261618 deletion NM_007294.3(BRCA1):c.4860_4941del82 (p.Asp1621Lysfs) -1 MedGen:C2676676,OMIM:604370 17 43070973 43071054 na na 261618 deletion NM_007294.3(BRCA1):c.4860_4941del82 (p.Asp1621Lysfs) -1 MedGen:C2676676,OMIM:604370 17 41222990 41223071 na na 261619 deletion NM_007294.3(BRCA1):c.4921delG (p.Ala1641Leufs) 886040257 MedGen:C2676676,OMIM:604370 17 41223010 41223010 C - 261619 deletion NM_007294.3(BRCA1):c.4921delG (p.Ala1641Leufs) 886040257 MedGen:C2676676,OMIM:604370 17 43070993 43070993 C - 261620 deletion NM_007294.3(BRCA1):c.4887_4893delAGAAAGT (p.Glu1630Terfs) 886040255 MedGen:C2676676,OMIM:604370 17 41223038 41223044 ACTTTCT - 261620 deletion NM_007294.3(BRCA1):c.4887_4893delAGAAAGT (p.Glu1630Terfs) 886040255 MedGen:C2676676,OMIM:604370 17 43071021 43071027 ACTTTCT - 261621 deletion NM_007294.3(BRCA1):c.4891delA (p.Ser1631Valfs) 886040256 MedGen:C2676676,OMIM:604370 17 43071023 43071023 T - 261621 deletion NM_007294.3(BRCA1):c.4891delA (p.Ser1631Valfs) 886040256 MedGen:C2676676,OMIM:604370 17 41223040 41223040 T - 261622 duplication NM_007294.3(BRCA1):c.4885dupG (p.Glu1629Glyfs) 886040254 MedGen:C2676676,OMIM:604370 17 43071029 43071029 C CC 261622 duplication NM_007294.3(BRCA1):c.4885dupG (p.Glu1629Glyfs) 886040254 MedGen:C2676676,OMIM:604370 17 41223046 41223046 C CC 261623 duplication NM_007294.3(BRCA1):c.4878dupT (p.Ala1627Cysfs) 886040253 MedGen:C2676676,OMIM:604370 17 41223053 41223053 A AA 261623 duplication NM_007294.3(BRCA1):c.4878dupT (p.Ala1627Cysfs) 886040253 MedGen:C2676676,OMIM:604370 17 43071036 43071036 A AA 261624 deletion NM_007294.3(BRCA1):c.4877delA (p.Asn1626Metfs) 886040252 MedGen:C2676676,OMIM:604370 17 43071037 43071037 T - 261624 deletion NM_007294.3(BRCA1):c.4877delA (p.Asn1626Metfs) 886040252 MedGen:C2676676,OMIM:604370 17 41223054 41223054 T - 261625 single nucleotide variant NM_007294.3(BRCA1):c.4875T>A (p.Tyr1625Ter) 886040251 MedGen:C2676676,OMIM:604370 17 43071039 43071039 A T 261625 single nucleotide variant NM_007294.3(BRCA1):c.4875T>A (p.Tyr1625Ter) 886040251 MedGen:C2676676,OMIM:604370 17 41223056 41223056 A T 261626 deletion NM_007294.3(BRCA1):c.4834delC (p.Gln1612Argfs) 886040249 MedGen:C2676676,OMIM:604370 17 43071080 43071080 G - 261626 deletion NM_007294.3(BRCA1):c.4834delC (p.Gln1612Argfs) 886040249 MedGen:C2676676,OMIM:604370 17 41223097 41223097 G - 261627 deletion NM_007294.3(BRCA1):c.4784delC (p.Ser1595Phefs) 886040248 MedGen:C2676676,OMIM:604370 17 41223147 41223147 G - 261627 deletion NM_007294.3(BRCA1):c.4784delC (p.Ser1595Phefs) 886040248 MedGen:C2676676,OMIM:604370 17 43071130 43071130 G - 261628 insertion NM_007294.3(BRCA1):c.4758_4759insA (p.Ser1587Ilefs) 886040247 MedGen:C2676676,OMIM:604370 17 43071155 43071156 - T 261628 insertion NM_007294.3(BRCA1):c.4758_4759insA (p.Ser1587Ilefs) 886040247 MedGen:C2676676,OMIM:604370 17 41223172 41223173 - T 261629 deletion NM_007294.3(BRCA1):c.4743delA (p.Asp1582Thrfs) 886040246 MedGen:C2676676,OMIM:604370 17 41223188 41223188 T - 261629 deletion NM_007294.3(BRCA1):c.4743delA (p.Asp1582Thrfs) 886040246 MedGen:C2676676,OMIM:604370 17 43071171 43071171 T - 261630 indel NM_007294.3(BRCA1):c.4700_4710delGAATCAGCCTCinsA (p.Gly1567Aspfs) 886040245 MedGen:C2676676,OMIM:604370 17 43071204 43071214 GAGGCTGATTC T 261630 indel NM_007294.3(BRCA1):c.4700_4710delGAATCAGCCTCinsA (p.Gly1567Aspfs) 886040245 MedGen:C2676676,OMIM:604370 17 41223221 41223231 GAGGCTGATTC T 261631 deletion NM_007294.3(BRCA1):c.4699_4708delGGAATCAGCC (p.Gly1567Serfs) 886040244 MedGen:C2676676,OMIM:604370 17 41223223 41223232 GGCTGATTCC - 261631 deletion NM_007294.3(BRCA1):c.4699_4708delGGAATCAGCC (p.Gly1567Serfs) 886040244 MedGen:C2676676,OMIM:604370 17 43071206 43071215 GGCTGATTCC - 261632 duplication NM_007294.3(BRCA1):c.4688dupA (p.Tyr1563Terfs) 886040243 MedGen:C2676676,OMIM:604370 17 41223243 41223243 T TT 261632 duplication NM_007294.3(BRCA1):c.4688dupA (p.Tyr1563Terfs) 886040243 MedGen:C2676676,OMIM:604370 17 43071226 43071226 T TT 261633 duplication NM_007294.3(BRCA1):c.4668dupA (p.Asp1557Argfs) 886040242 MedGen:C2676676,OMIM:604370 17 43074338 43074338 T TT 261633 duplication NM_007294.3(BRCA1):c.4668dupA (p.Asp1557Argfs) 886040242 MedGen:C2676676,OMIM:604370 17 41226355 41226355 T TT 261634 deletion NM_007294.3(BRCA1):c.4622_4623delAG (p.Glu1541Valfs) 886040241 MedGen:C2676676,OMIM:604370 17 43074383 43074384 CT - 261634 deletion NM_007294.3(BRCA1):c.4622_4623delAG (p.Glu1541Valfs) 886040241 MedGen:C2676676,OMIM:604370 17 41226400 41226401 CT - 261635 indel NM_007294.3(BRCA1):c.4618_4621delGAAGinsAAA (p.Glu1540Lysfs) 886040240 MedGen:C2676676,OMIM:604370 17 43074385 43074388 CTTC TTT 261635 indel NM_007294.3(BRCA1):c.4618_4621delGAAGinsAAA (p.Glu1540Lysfs) 886040240 MedGen:C2676676,OMIM:604370 17 41226402 41226405 CTTC TTT 261636 duplication NM_007294.3(BRCA1):c.4593dupT (p.Val1532Cysfs) 886040239 MedGen:C2676676,OMIM:604370 17 43074413 43074413 A AA 261636 duplication NM_007294.3(BRCA1):c.4593dupT (p.Val1532Cysfs) 886040239 MedGen:C2676676,OMIM:604370 17 41226430 41226430 A AA 261637 deletion NM_007294.3(BRCA1):c.4591delG (p.Val1531Leufs) 886040238 MedGen:C2676676,OMIM:604370 17 43074415 43074415 C - 261637 deletion NM_007294.3(BRCA1):c.4591delG (p.Val1531Leufs) 886040238 MedGen:C2676676,OMIM:604370 17 41226432 41226432 C - 261638 single nucleotide variant NM_007294.3(BRCA1):c.4573C>T (p.Gln1525Ter) 886040237 MedGen:C2676676,OMIM:604370 17 41226450 41226450 G A 261638 single nucleotide variant NM_007294.3(BRCA1):c.4573C>T (p.Gln1525Ter) 886040237 MedGen:C2676676,OMIM:604370 17 43074433 43074433 G A 261639 deletion NM_007294.3(BRCA1):c.4569_4572delATCT (p.Ser1524Lysfs) 886040236 MedGen:C2676676,OMIM:604370 17 43074434 43074437 AGAT - 261639 deletion NM_007294.3(BRCA1):c.4569_4572delATCT (p.Ser1524Lysfs) 886040236 MedGen:C2676676,OMIM:604370 17 41226451 41226454 AGAT - 261640 insertion NM_007294.3(BRCA1):c.4569_4570insCC (p.Ser1524Profs) 886040235 MedGen:C2676676,OMIM:604370 17 43074436 43074437 - GG 261640 insertion NM_007294.3(BRCA1):c.4569_4570insCC (p.Ser1524Profs) 886040235 MedGen:C2676676,OMIM:604370 17 41226453 41226454 - GG 261641 single nucleotide variant NM_007294.3(BRCA1):c.4566C>G (p.Tyr1522Ter) 886040234 MedGen:C2676676,OMIM:604370 17 41226457 41226457 G C 261641 single nucleotide variant NM_007294.3(BRCA1):c.4566C>G (p.Tyr1522Ter) 886040234 MedGen:C2676676,OMIM:604370 17 43074440 43074440 G C 261642 single nucleotide variant NM_007294.3(BRCA1):c.4566C>A (p.Tyr1522Ter) 886040234 MedGen:C2676676,OMIM:604370 17 43074440 43074440 G T 261642 single nucleotide variant NM_007294.3(BRCA1):c.4566C>A (p.Tyr1522Ter) 886040234 MedGen:C2676676,OMIM:604370 17 41226457 41226457 G T 261643 single nucleotide variant NM_007294.3(BRCA1):c.4527C>A (p.Tyr1509Ter) 886040233 MedGen:C2676676,OMIM:604370 17 43074479 43074479 G T 261643 single nucleotide variant NM_007294.3(BRCA1):c.4527C>A (p.Tyr1509Ter) 886040233 MedGen:C2676676,OMIM:604370 17 41226496 41226496 G T 261644 single nucleotide variant NM_007294.3(BRCA1):c.4503C>A (p.Cys1501Ter) 747539984 MedGen:C2676676,OMIM:604370 17 43074503 43074503 G T 261644 single nucleotide variant NM_007294.3(BRCA1):c.4503C>A (p.Cys1501Ter) 747539984 MedGen:C2676676,OMIM:604370 17 41226520 41226520 G T 261645 deletion NM_007294.3(BRCA1):c.4453_4474del22 (p.Thr1485Glufs) 886040232 MedGen:C2676676,OMIM:604370 17 43076498 43076519 na na 261645 deletion NM_007294.3(BRCA1):c.4453_4474del22 (p.Thr1485Glufs) 886040232 MedGen:C2676676,OMIM:604370 17 41228515 41228536 na na 261646 deletion NM_007294.3(BRCA1):c.4417delT (p.Ser1473Leufs) 886040231 MedGen:C2676676,OMIM:604370 17 41228572 41228572 A - 261646 deletion NM_007294.3(BRCA1):c.4417delT (p.Ser1473Leufs) 886040231 MedGen:C2676676,OMIM:604370 17 43076555 43076555 A - 261647 single nucleotide variant NM_007294.3(BRCA1):c.4408G>T (p.Glu1470Ter) 886040230 MedGen:C2676676,OMIM:604370 17 43076564 43076564 C A 261647 single nucleotide variant NM_007294.3(BRCA1):c.4408G>T (p.Glu1470Ter) 886040230 MedGen:C2676676,OMIM:604370 17 41228581 41228581 C A 261648 insertion NM_007294.3(BRCA1):c.4397_4398insA (p.Ser1466Argfs) 886040229 MedGen:C2676676,OMIM:604370 17 43076574 43076575 - T 261648 insertion NM_007294.3(BRCA1):c.4397_4398insA (p.Ser1466Argfs) 886040229 MedGen:C2676676,OMIM:604370 17 41228591 41228592 - T 261649 single nucleotide variant NM_007294.3(BRCA1):c.4375A>T (p.Lys1459Ter) 886040228 MedGen:C2676676,OMIM:604370 17 43076597 43076597 T A 261649 single nucleotide variant NM_007294.3(BRCA1):c.4375A>T (p.Lys1459Ter) 886040228 MedGen:C2676676,OMIM:604370 17 41228614 41228614 T A 261650 single nucleotide variant NM_007294.3(BRCA1):c.4364T>G (p.Leu1455Ter) 886040227 MedGen:C2676676,OMIM:604370 17 43076608 43076608 A C 261650 single nucleotide variant NM_007294.3(BRCA1):c.4364T>G (p.Leu1455Ter) 886040227 MedGen:C2676676,OMIM:604370 17 41228625 41228625 A C 261651 single nucleotide variant NM_007294.3(BRCA1):c.4349C>G (p.Ser1450Ter) 886040226 MedGen:C2676676,OMIM:604370 17 41234429 41234429 G C 261651 single nucleotide variant NM_007294.3(BRCA1):c.4349C>G (p.Ser1450Ter) 886040226 MedGen:C2676676,OMIM:604370 17 43082412 43082412 G C 261652 duplication NM_007294.3(BRCA1):c.4342dupA (p.Ser1448Lysfs) 886040225 MedGen:C2676676,OMIM:604370 17 41234436 41234436 T TT 261652 duplication NM_007294.3(BRCA1):c.4342dupA (p.Ser1448Lysfs) 886040225 MedGen:C2676676,OMIM:604370 17 43082419 43082419 T TT 261653 deletion NM_007294.3(BRCA1):c.4309delT (p.Ser1437Leufs) 886040223 MedGen:C2676676,OMIM:604370 17 41234469 41234469 A - 261653 deletion NM_007294.3(BRCA1):c.4309delT (p.Ser1437Leufs) 886040223 MedGen:C2676676,OMIM:604370 17 43082452 43082452 A - 261654 deletion NM_007294.3(BRCA1):c.4290_4296delTTCCATC (p.Ser1431Terfs) 886040222 MedGen:C2676676,OMIM:604370 17 41234482 41234488 GATGGAA - 261654 deletion NM_007294.3(BRCA1):c.4290_4296delTTCCATC (p.Ser1431Terfs) 886040222 MedGen:C2676676,OMIM:604370 17 43082465 43082471 GATGGAA - 261655 indel NM_007294.3(BRCA1):c.4284_4285delCTinsG (p.Ser1428Argfs) 886040221 MedGen:C2676676,OMIM:604370 17 43082476 43082477 AG C 261655 indel NM_007294.3(BRCA1):c.4284_4285delCTinsG (p.Ser1428Argfs) 886040221 MedGen:C2676676,OMIM:604370 17 41234493 41234494 AG C 261656 duplication NM_007294.3(BRCA1):c.4285dupT (p.Tyr1429Leufs) 80357716 MedGen:C2676676,OMIM:604370 17 41234493 41234493 A AA 261656 duplication NM_007294.3(BRCA1):c.4285dupT (p.Tyr1429Leufs) 80357716 MedGen:C2676676,OMIM:604370 17 43082476 43082476 A AA 261657 single nucleotide variant NM_007294.3(BRCA1):c.4270C>T (p.Gln1424Ter) 886040220 MedGen:C2676676,OMIM:604370 17 43082491 43082491 G A 261657 single nucleotide variant NM_007294.3(BRCA1):c.4270C>T (p.Gln1424Ter) 886040220 MedGen:C2676676,OMIM:604370 17 41234508 41234508 G A 261658 single nucleotide variant NM_007294.3(BRCA1):c.4255G>T (p.Glu1419Ter) 80357309 MedGen:C2676676,OMIM:604370 17 43082506 43082506 C A 261658 single nucleotide variant NM_007294.3(BRCA1):c.4255G>T (p.Glu1419Ter) 80357309 MedGen:C2676676,OMIM:604370 17 41234523 41234523 C A 261659 deletion NM_007294.3(BRCA1):c.4239delA (p.Glu1413Aspfs) 886040219 MedGen:C2676676,OMIM:604370 17 41234539 41234539 T - 261659 deletion NM_007294.3(BRCA1):c.4239delA (p.Glu1413Aspfs) 886040219 MedGen:C2676676,OMIM:604370 17 43082522 43082522 T - 261660 single nucleotide variant NM_007294.3(BRCA1):c.4225C>T (p.Gln1409Ter) 886040218 MedGen:C2676676,OMIM:604370 17 41234553 41234553 G A 261660 single nucleotide variant NM_007294.3(BRCA1):c.4225C>T (p.Gln1409Ter) 886040218 MedGen:C2676676,OMIM:604370 17 43082536 43082536 G A 261661 deletion NM_007294.3(BRCA1):c.4218delG (p.Lys1406Asnfs) 886040217 MedGen:C2676676,OMIM:604370 17 41234560 41234560 C - 261661 deletion NM_007294.3(BRCA1):c.4218delG (p.Lys1406Asnfs) 886040217 MedGen:C2676676,OMIM:604370 17 43082543 43082543 C - 261662 single nucleotide variant NM_007294.3(BRCA1):c.4216A>T (p.Lys1406Ter) 886040216 MedGen:C2676676,OMIM:604370 17 41234562 41234562 T A 261662 single nucleotide variant NM_007294.3(BRCA1):c.4216A>T (p.Lys1406Ter) 886040216 MedGen:C2676676,OMIM:604370 17 43082545 43082545 T A 261663 deletion NM_007294.3(BRCA1):c.4206_4207delTA (p.His1402Glnfs) 886040215 MedGen:C2676676,OMIM:604370 17 43082554 43082555 TA - 261663 deletion NM_007294.3(BRCA1):c.4206_4207delTA (p.His1402Glnfs) 886040215 MedGen:C2676676,OMIM:604370 17 41234571 41234572 TA - 261664 deletion NM_007294.3(BRCA1):c.4205delA (p.His1402Leufs) 886040214 MedGen:C2676676,OMIM:604370 17 43082556 43082556 T - 261664 deletion NM_007294.3(BRCA1):c.4205delA (p.His1402Leufs) 886040214 MedGen:C2676676,OMIM:604370 17 41234573 41234573 T - 261665 deletion NM_007294.3(BRCA1):c.4197delC (p.Met1400Cysfs) 886040213 MedGen:C2676676,OMIM:604370 17 41234581 41234581 G - 261665 deletion NM_007294.3(BRCA1):c.4197delC (p.Met1400Cysfs) 886040213 MedGen:C2676676,OMIM:604370 17 43082564 43082564 G - 261666 deletion NM_007294.3(BRCA1):c.4175delT (p.Leu1392Terfs) 886040211 MedGen:C2676676,OMIM:604370 17 41242971 41242971 A - 261666 deletion NM_007294.3(BRCA1):c.4175delT (p.Leu1392Terfs) 886040211 MedGen:C2676676,OMIM:604370 17 43090954 43090954 A - 261667 deletion NM_007294.3(BRCA1):c.4162_4163delCA (p.Gln1388Glufs) 886040210 MedGen:C2676676,OMIM:604370 17 43090966 43090967 TG - 261667 deletion NM_007294.3(BRCA1):c.4162_4163delCA (p.Gln1388Glufs) 886040210 MedGen:C2676676,OMIM:604370 17 41242983 41242984 TG - 261668 duplication NM_007294.3(BRCA1):c.4146_4155dupCTCAGGGCTA (p.Ser1386Leufs) 483353079 MedGen:C2676676,OMIM:604370 17 41242991 41243000 TAGCCCTGAG TAGCCCTGAGTAGCCCTGAG 261668 duplication NM_007294.3(BRCA1):c.4146_4155dupCTCAGGGCTA (p.Ser1386Leufs) 483353079 MedGen:C2676676,OMIM:604370 17 43090974 43090983 TAGCCCTGAG TAGCCCTGAGTAGCCCTGAG 261669 deletion NM_007294.3(BRCA1):c.4137_4138delTG (p.Glu1380Argfs) 886040209 MedGen:C2676676,OMIM:604370 17 43090991 43090992 CA - 261669 deletion NM_007294.3(BRCA1):c.4137_4138delTG (p.Glu1380Argfs) 886040209 MedGen:C2676676,OMIM:604370 17 41243008 41243009 CA - 261670 deletion NM_007294.3(BRCA1):c.4126_4129delACAA (p.Thr1376Alafs) 886040206 MedGen:C2676676,OMIM:604370 17 43091000 43091003 TTGT - 261670 deletion NM_007294.3(BRCA1):c.4126_4129delACAA (p.Thr1376Alafs) 886040206 MedGen:C2676676,OMIM:604370 17 41243017 41243020 TTGT - 261671 deletion NM_007294.3(BRCA1):c.4129delA (p.Ser1377Alafs) 886040208 MedGen:C2676676,OMIM:604370 17 43091000 43091000 T - 261671 deletion NM_007294.3(BRCA1):c.4129delA (p.Ser1377Alafs) 886040208 MedGen:C2676676,OMIM:604370 17 41243017 41243017 T - 261672 deletion NM_007294.3(BRCA1):c.4127delC (p.Thr1376Lysfs) 886040207 MedGen:C2676676,OMIM:604370 17 43091002 43091002 G - 261672 deletion NM_007294.3(BRCA1):c.4127delC (p.Thr1376Lysfs) 886040207 MedGen:C2676676,OMIM:604370 17 41243019 41243019 G - 261673 deletion NM_007294.3(BRCA1):c.4116delT (p.Cys1372Trpfs) 886040204 MedGen:C2676676,OMIM:604370 17 43091013 43091013 A - 261673 deletion NM_007294.3(BRCA1):c.4116delT (p.Cys1372Trpfs) 886040204 MedGen:C2676676,OMIM:604370 17 41243030 41243030 A - 261674 insertion NM_007294.3(BRCA1):c.4107_4108insATCT (p.Ser1370Ilefs) 886040202 MedGen:C2676676,OMIM:604370 17 43091021 43091022 - AGAT 261674 insertion NM_007294.3(BRCA1):c.4107_4108insATCT (p.Ser1370Ilefs) 886040202 MedGen:C2676676,OMIM:604370 17 41243038 41243039 - AGAT 261675 deletion NM_007294.3(BRCA1):c.4074_4090del17 (p.Gln1359Leufs) 886040198 MedGen:C2676676,OMIM:604370 17 43091441 43091457 na na 261675 deletion NM_007294.3(BRCA1):c.4074_4090del17 (p.Gln1359Leufs) 886040198 MedGen:C2676676,OMIM:604370 17 41243458 41243474 na na 261676 deletion NM_007294.3(BRCA1):c.4079delG (p.Ser1360Thrfs) 886040199 MedGen:C2676676,OMIM:604370 17 43091452 43091452 C - 261676 deletion NM_007294.3(BRCA1):c.4079delG (p.Ser1360Thrfs) 886040199 MedGen:C2676676,OMIM:604370 17 41243469 41243469 C - 261677 deletion NM_007294.3(BRCA1):c.4071delA (p.Glu1358Serfs) 886040197 MedGen:C2676676,OMIM:604370 17 41243477 41243477 T - 261677 deletion NM_007294.3(BRCA1):c.4071delA (p.Glu1358Serfs) 886040197 MedGen:C2676676,OMIM:604370 17 43091460 43091460 T - 261678 single nucleotide variant NM_007294.3(BRCA1):c.4069G>T (p.Glu1357Ter) 886040195 MedGen:C2676676,OMIM:604370 17 43091462 43091462 C A 261678 single nucleotide variant NM_007294.3(BRCA1):c.4069G>T (p.Glu1357Ter) 886040195 MedGen:C2676676,OMIM:604370 17 41243479 41243479 C A 261679 single nucleotide variant NM_007294.3(BRCA1):c.4066C>T (p.Gln1356Ter) 886040193 MedGen:C2676676,OMIM:604370 17 41243482 41243482 G A 261679 single nucleotide variant NM_007294.3(BRCA1):c.4066C>T (p.Gln1356Ter) 886040193 MedGen:C2676676,OMIM:604370 17 43091465 43091465 G A 261680 deletion NM_007294.3(BRCA1):c.4062_4066delTAATC (p.Asn1354Lysfs) 886040192 MedGen:C2676676,OMIM:604370 17 43091465 43091469 GATTA - 261680 deletion NM_007294.3(BRCA1):c.4062_4066delTAATC (p.Asn1354Lysfs) 886040192 MedGen:C2676676,OMIM:604370 17 41243482 41243486 GATTA - 261681 deletion NM_007294.3(BRCA1):c.4066delC (p.Gln1356Lysfs) 886040194 MedGen:C2676676,OMIM:604370 17 41243482 41243482 G - 261681 deletion NM_007294.3(BRCA1):c.4066delC (p.Gln1356Lysfs) 886040194 MedGen:C2676676,OMIM:604370 17 43091465 43091465 G - 261682 single nucleotide variant NM_007294.3(BRCA1):c.4042G>T (p.Gly1348Ter) 886040191 MedGen:C2676676,OMIM:604370 17 43091489 43091489 C A 261682 single nucleotide variant NM_007294.3(BRCA1):c.4042G>T (p.Gly1348Ter) 886040191 MedGen:C2676676,OMIM:604370 17 41243506 41243506 C A 261683 duplication NM_007294.3(BRCA1):c.4039dupA (p.Arg1347Lysfs) 886040190 MedGen:C2676676,OMIM:604370 17 43091492 43091492 T TT 261683 duplication NM_007294.3(BRCA1):c.4039dupA (p.Arg1347Lysfs) 886040190 MedGen:C2676676,OMIM:604370 17 41243509 41243509 T TT 261684 deletion NM_007294.3(BRCA1):c.4036delG (p.Glu1346Lysfs) 886040189 MedGen:C2676676,OMIM:604370 17 43091495 43091495 C - 261684 deletion NM_007294.3(BRCA1):c.4036delG (p.Glu1346Lysfs) 886040189 MedGen:C2676676,OMIM:604370 17 41243512 41243512 C - 261685 single nucleotide variant NM_007294.3(BRCA1):c.4033G>T (p.Glu1345Ter) 886040188 MedGen:C2676676,OMIM:604370 17 41243515 41243515 C A 261685 single nucleotide variant NM_007294.3(BRCA1):c.4033G>T (p.Glu1345Ter) 886040188 MedGen:C2676676,OMIM:604370 17 43091498 43091498 C A 261686 insertion NM_007294.3(BRCA1):c.4016_4017insTT (p.Glu1339Aspfs) 886040187 MedGen:C2676676,OMIM:604370 17 41243531 41243532 - AA 261686 insertion NM_007294.3(BRCA1):c.4016_4017insTT (p.Glu1339Aspfs) 886040187 MedGen:C2676676,OMIM:604370 17 43091514 43091515 - AA 261687 deletion NM_007294.3(BRCA1):c.3995_4001delGAGTTGG (p.Gly1332Valfs) 886040185 MedGen:C2676676,OMIM:604370 17 43091530 43091536 CCAACTC - 261687 deletion NM_007294.3(BRCA1):c.3995_4001delGAGTTGG (p.Gly1332Valfs) 886040185 MedGen:C2676676,OMIM:604370 17 41243547 41243553 CCAACTC - 261688 deletion NM_007294.3(BRCA1):c.3990_3993delCCAG (p.Ser1330Argfs) 886040184 MedGen:C2676676,OMIM:604370 17 43091538 43091541 CTGG - 261688 deletion NM_007294.3(BRCA1):c.3990_3993delCCAG (p.Ser1330Argfs) 886040184 MedGen:C2676676,OMIM:604370 17 41243555 41243558 CTGG - 261689 indel NM_007294.3(BRCA1):c.3985_3987delGAAinsTTTC (p.Glu1329Phefs) 886040183 MedGen:C2676676,OMIM:604370 17 43091544 43091546 TTC GAAA 261689 indel NM_007294.3(BRCA1):c.3985_3987delGAAinsTTTC (p.Glu1329Phefs) 886040183 MedGen:C2676676,OMIM:604370 17 41243561 41243563 TTC GAAA 261690 indel NM_007294.3(BRCA1):c.3972_3974delGAGinsAA (p.Met1324Ilefs) 886040182 MedGen:C2676676,OMIM:604370 17 43091557 43091559 CTC TT 261690 indel NM_007294.3(BRCA1):c.3972_3974delGAGinsAA (p.Met1324Ilefs) 886040182 MedGen:C2676676,OMIM:604370 17 41243574 41243576 CTC TT 261691 deletion NM_007294.3(BRCA1):c.3968_3971delAAAT (p.Gln1323Argfs) 886040181 MedGen:C2676676,OMIM:604370 17 43091560 43091563 ATTT - 261691 deletion NM_007294.3(BRCA1):c.3968_3971delAAAT (p.Gln1323Argfs) 886040181 MedGen:C2676676,OMIM:604370 17 41243577 41243580 ATTT - 261692 deletion NM_007294.3(BRCA1):c.3961delT (p.Ser1321Profs) 886040180 MedGen:C2676676,OMIM:604370 17 43091570 43091570 A - 261692 deletion NM_007294.3(BRCA1):c.3961delT (p.Ser1321Profs) 886040180 MedGen:C2676676,OMIM:604370 17 41243587 41243587 A - 261693 deletion NM_007294.3(BRCA1):c.3959delC (p.Ser1320Phefs) 886040179 MedGen:C2676676,OMIM:604370 17 43091572 43091572 G - 261693 deletion NM_007294.3(BRCA1):c.3959delC (p.Ser1320Phefs) 886040179 MedGen:C2676676,OMIM:604370 17 41243589 41243589 G - 261694 deletion NM_007294.3(BRCA1):c.3952_3955delATTG (p.Ile1318Valfs) 886040178 MedGen:C2676676,OMIM:604370 17 43091576 43091579 CAAT - 261694 deletion NM_007294.3(BRCA1):c.3952_3955delATTG (p.Ile1318Valfs) 886040178 MedGen:C2676676,OMIM:604370 17 41243593 41243596 CAAT - 261695 deletion NM_007294.3(BRCA1):c.3947_3950delTCTT (p.Phe1316Terfs) 886040177 MedGen:C2676676,OMIM:604370 17 41243598 41243601 AAGA - 261695 deletion NM_007294.3(BRCA1):c.3947_3950delTCTT (p.Phe1316Terfs) 886040177 MedGen:C2676676,OMIM:604370 17 43091581 43091584 AAGA - 261696 duplication NM_007294.3(BRCA1):c.3928dupA (p.Thr1310Asnfs) 886040176 MedGen:C2676676,OMIM:604370 17 41243620 41243620 T TT 261696 duplication NM_007294.3(BRCA1):c.3928dupA (p.Thr1310Asnfs) 886040176 MedGen:C2676676,OMIM:604370 17 43091603 43091603 T TT 261697 deletion NM_007294.3(BRCA1):c.3917delT (p.Leu1306Terfs) 886040175 MedGen:C2676676,OMIM:604370 17 43091614 43091614 A - 261697 deletion NM_007294.3(BRCA1):c.3917delT (p.Leu1306Terfs) 886040175 MedGen:C2676676,OMIM:604370 17 41243631 41243631 A - 261698 duplication NM_007294.3(BRCA1):c.3908_3909dupTG (p.Glu1304Trpfs) 886040174 MedGen:C2676676,OMIM:604370 17 43091622 43091623 CA CACA 261698 duplication NM_007294.3(BRCA1):c.3908_3909dupTG (p.Glu1304Trpfs) 886040174 MedGen:C2676676,OMIM:604370 17 41243639 41243640 CA CACA 261699 indel NM_007294.3(BRCA1):c.3907_3908delTTinsGGA (p.Leu1303Glyfs) 886040173 MedGen:C2676676,OMIM:604370 17 43091623 43091624 AA TCC 261699 indel NM_007294.3(BRCA1):c.3907_3908delTTinsGGA (p.Leu1303Glyfs) 886040173 MedGen:C2676676,OMIM:604370 17 41243640 41243641 AA TCC 261700 deletion NM_007294.3(BRCA1):c.3885delG (p.Leu1295Phefs) 886040172 MedGen:C2676676,OMIM:604370 17 41243663 41243663 C - 261700 deletion NM_007294.3(BRCA1):c.3885delG (p.Leu1295Phefs) 886040172 MedGen:C2676676,OMIM:604370 17 43091646 43091646 C - 261701 single nucleotide variant NM_007294.3(BRCA1):c.3862G>T (p.Glu1288Ter) 876659708 MedGen:C2676676,OMIM:604370 17 43091669 43091669 C A 261701 single nucleotide variant NM_007294.3(BRCA1):c.3862G>T (p.Glu1288Ter) 876659708 MedGen:C2676676,OMIM:604370 17 41243686 41243686 C A 261702 duplication NM_007294.3(BRCA1):c.3851_3852dupAC (p.Leu1285Thrfs) 397507221 MedGen:C2676676,OMIM:604370 17 43091679 43091680 GT GTGT 261702 duplication NM_007294.3(BRCA1):c.3851_3852dupAC (p.Leu1285Thrfs) 397507221 MedGen:C2676676,OMIM:604370 17 41243696 41243697 GT GTGT 261703 deletion NM_007294.3(BRCA1):c.3840_3850delTCAGGAACATC (p.Gln1281Profs) 886040170 MedGen:C2676676,OMIM:604370 17 43091681 43091691 GATGTTCCTGA - 261703 deletion NM_007294.3(BRCA1):c.3840_3850delTCAGGAACATC (p.Gln1281Profs) 886040170 MedGen:C2676676,OMIM:604370 17 41243698 41243708 GATGTTCCTGA - 261704 deletion NM_007294.3(BRCA1):c.3839_3843delCTCAG (p.Ser1280Terfs) 886040169 MedGen:C2676676,OMIM:604370 17 43091688 43091692 CTGAG - 261704 deletion NM_007294.3(BRCA1):c.3839_3843delCTCAG (p.Ser1280Terfs) 886040169 MedGen:C2676676,OMIM:604370 17 41243705 41243709 CTGAG - 261705 deletion NM_007294.3(BRCA1):c.3837_3840delATCT (p.Ser1280Argfs) 886040168 MedGen:C2676676,OMIM:604370 17 43091691 43091694 AGAT - 261705 deletion NM_007294.3(BRCA1):c.3837_3840delATCT (p.Ser1280Argfs) 886040168 MedGen:C2676676,OMIM:604370 17 41243708 41243711 AGAT - 261706 duplication NM_007294.3(BRCA1):c.3821dupT (p.Ile1275Asnfs) 886040167 MedGen:C2676676,OMIM:604370 17 41243727 41243727 A AA 261706 duplication NM_007294.3(BRCA1):c.3821dupT (p.Ile1275Asnfs) 886040167 MedGen:C2676676,OMIM:604370 17 43091710 43091710 A AA 261707 single nucleotide variant NM_007294.3(BRCA1):c.3810C>A (p.Cys1270Ter) 886040166 MedGen:C2676676,OMIM:604370 17 43091721 43091721 G T 261707 single nucleotide variant NM_007294.3(BRCA1):c.3810C>A (p.Cys1270Ter) 886040166 MedGen:C2676676,OMIM:604370 17 41243738 41243738 G T 261708 deletion NM_007294.3(BRCA1):c.3765delC (p.Asn1255Lysfs) 886040165 MedGen:C2676676,OMIM:604370 17 41243783 41243783 G - 261708 deletion NM_007294.3(BRCA1):c.3765delC (p.Asn1255Lysfs) 886040165 MedGen:C2676676,OMIM:604370 17 43091766 43091766 G - 261709 deletion NM_007294.3(BRCA1):c.3756_3760delGTCTA (p.Ser1253Glufs) 886040164 MedGen:C2676676,OMIM:604370 17 41243788 41243792 TAGAC - 261709 deletion NM_007294.3(BRCA1):c.3756_3760delGTCTA (p.Ser1253Glufs) 886040164 MedGen:C2676676,OMIM:604370 17 43091771 43091775 TAGAC - 261710 deletion NM_007294.3(BRCA1):c.3750delG (p.Glu1250Aspfs) 886040163 MedGen:C2676676,OMIM:604370 17 41243798 41243798 C - 261710 deletion NM_007294.3(BRCA1):c.3750delG (p.Glu1250Aspfs) 886040163 MedGen:C2676676,OMIM:604370 17 43091781 43091781 C - 261711 deletion NM_007294.3(BRCA1):c.3731_3743delATAGCACCGTTGC (p.His1244Leufs) 886040162 MedGen:C2676676,OMIM:604370 17 41243805 41243817 GCAACGGTGCTAT - 261711 deletion NM_007294.3(BRCA1):c.3731_3743delATAGCACCGTTGC (p.His1244Leufs) 886040162 MedGen:C2676676,OMIM:604370 17 43091788 43091800 GCAACGGTGCTAT - 261712 deletion NM_007294.3(BRCA1):c.3731_3738delATAGCACC (p.His1244Argfs) 886040161 MedGen:C2676676,OMIM:604370 17 43091793 43091800 GGTGCTAT - 261712 deletion NM_007294.3(BRCA1):c.3731_3738delATAGCACC (p.His1244Argfs) 886040161 MedGen:C2676676,OMIM:604370 17 41243810 41243817 GGTGCTAT - 261713 single nucleotide variant NM_007294.3(BRCA1):c.3679C>T (p.Gln1227Ter) 886040159 MedGen:C2676676,OMIM:604370 17 43091852 43091852 G A 261713 single nucleotide variant NM_007294.3(BRCA1):c.3679C>T (p.Gln1227Ter) 886040159 MedGen:C2676676,OMIM:604370 17 41243869 41243869 G A 261714 deletion NM_007294.3(BRCA1):c.3669delT (p.Cys1225Alafs) 886040158 MedGen:C2676676,OMIM:604370 17 43091862 43091862 A - 261714 deletion NM_007294.3(BRCA1):c.3669delT (p.Cys1225Alafs) 886040158 MedGen:C2676676,OMIM:604370 17 41243879 41243879 A - 261715 duplication NM_007294.3(BRCA1):c.3651dupT (p.Ser1218Terfs) 886040157 MedGen:C2676676,OMIM:604370 17 41243897 41243897 A AA 261715 duplication NM_007294.3(BRCA1):c.3651dupT (p.Ser1218Terfs) 886040157 MedGen:C2676676,OMIM:604370 17 43091880 43091880 A AA 261716 deletion NM_007294.3(BRCA1):c.3631_3634delTCCT (p.Ser1211Glnfs) 886040156 MedGen:C2676676,OMIM:604370 17 41243914 41243917 AGGA - 261716 deletion NM_007294.3(BRCA1):c.3631_3634delTCCT (p.Ser1211Glnfs) 886040156 MedGen:C2676676,OMIM:604370 17 43091897 43091900 AGGA - 261717 insertion NM_007294.3(BRCA1):c.3625_3626insA (p.Leu1209Tyrfs) 886040153 MedGen:C2676676,OMIM:604370 17 41243922 41243923 - T 261717 insertion NM_007294.3(BRCA1):c.3625_3626insA (p.Leu1209Tyrfs) 886040153 MedGen:C2676676,OMIM:604370 17 43091905 43091906 - T 261718 duplication NM_007294.3(BRCA1):c.3605dupA (p.Tyr1202Terfs) 886040151 MedGen:C2676676,OMIM:604370 17 43091926 43091926 T TT 261718 duplication NM_007294.3(BRCA1):c.3605dupA (p.Tyr1202Terfs) 886040151 MedGen:C2676676,OMIM:604370 17 41243943 41243943 T TT 261719 deletion NM_007294.3(BRCA1):c.3604delT (p.Tyr1202Thrfs) 886040150 MedGen:C2676676,OMIM:604370 17 43091927 43091927 A - 261719 deletion NM_007294.3(BRCA1):c.3604delT (p.Tyr1202Thrfs) 886040150 MedGen:C2676676,OMIM:604370 17 41243944 41243944 A - 261720 deletion NM_007294.3(BRCA1):c.3583_3590delCATACACA (p.His1195Phefs) 886040147 MedGen:C2676676,OMIM:604370 17 41243958 41243965 TGTGTATG - 261720 deletion NM_007294.3(BRCA1):c.3583_3590delCATACACA (p.His1195Phefs) 886040147 MedGen:C2676676,OMIM:604370 17 43091941 43091948 TGTGTATG - 261721 deletion NM_007294.3(BRCA1):c.3582_3589delCCATACAC (p.His1195Phefs) 886040146 MedGen:C2676676,OMIM:604370 17 41243959 41243966 GTGTATGG - 261721 deletion NM_007294.3(BRCA1):c.3582_3589delCCATACAC (p.His1195Phefs) 886040146 MedGen:C2676676,OMIM:604370 17 43091942 43091949 GTGTATGG - 261722 duplication NM_007294.3(BRCA1):c.3587dupC (p.His1197Thrfs) 886040148 MedGen:C2676676,OMIM:604370 17 41243961 41243961 G GG 261722 duplication NM_007294.3(BRCA1):c.3587dupC (p.His1197Thrfs) 886040148 MedGen:C2676676,OMIM:604370 17 43091944 43091944 G GG 261723 deletion NM_007294.3(BRCA1):c.3571delA (p.Ser1191Alafs) 886040145 MedGen:C2676676,OMIM:604370 17 43091960 43091960 T - 261723 deletion NM_007294.3(BRCA1):c.3571delA (p.Ser1191Alafs) 886040145 MedGen:C2676676,OMIM:604370 17 41243977 41243977 T - 261724 duplication NM_007294.3(BRCA1):c.3564dupG (p.Ser1189Glufs) 886040143 MedGen:C2676676,OMIM:604370 17 41243984 41243984 C CC 261724 duplication NM_007294.3(BRCA1):c.3564dupG (p.Ser1189Glufs) 886040143 MedGen:C2676676,OMIM:604370 17 43091967 43091967 C CC 261725 deletion NM_007294.3(BRCA1):c.3541_3542delGT (p.Val1181Profs) 886040141 MedGen:C2676676,OMIM:604370 17 41244006 41244007 AC - 261725 deletion NM_007294.3(BRCA1):c.3541_3542delGT (p.Val1181Profs) 886040141 MedGen:C2676676,OMIM:604370 17 43091989 43091990 AC - 261726 deletion NM_007294.3(BRCA1):c.3534delC (p.Ser1178Argfs) 886040140 MedGen:C2676676,OMIM:604370 17 41244014 41244014 G - 261726 deletion NM_007294.3(BRCA1):c.3534delC (p.Ser1178Argfs) 886040140 MedGen:C2676676,OMIM:604370 17 43091997 43091997 G - 261727 deletion NM_007294.3(BRCA1):c.3512delA (p.Lys1171Argfs) 886040139 MedGen:C2676676,OMIM:604370 17 41244036 41244036 T - 261727 deletion NM_007294.3(BRCA1):c.3512delA (p.Lys1171Argfs) 886040139 MedGen:C2676676,OMIM:604370 17 43092019 43092019 T - 261728 insertion NM_007294.3(BRCA1):c.3504_3505insA (p.Asp1169Argfs) 886040138 MedGen:C2676676,OMIM:604370 17 43092026 43092027 - T 261728 insertion NM_007294.3(BRCA1):c.3504_3505insA (p.Asp1169Argfs) 886040138 MedGen:C2676676,OMIM:604370 17 41244043 41244044 - T 261729 deletion NM_007294.3(BRCA1):c.3489_3499delTAGTTTTGCTG (p.Ser1164Lysfs) 886040136 MedGen:C2676676,OMIM:604370 17 43092032 43092042 CAGCAAAACTA - 261729 deletion NM_007294.3(BRCA1):c.3489_3499delTAGTTTTGCTG (p.Ser1164Lysfs) 886040136 MedGen:C2676676,OMIM:604370 17 41244049 41244059 CAGCAAAACTA - 261730 deletion NM_007294.3(BRCA1):c.3498delT (p.Glu1167Lysfs) 886040137 MedGen:C2676676,OMIM:604370 17 41244050 41244050 A - 261730 deletion NM_007294.3(BRCA1):c.3498delT (p.Glu1167Lysfs) 886040137 MedGen:C2676676,OMIM:604370 17 43092033 43092033 A - 261731 deletion NM_007294.3(BRCA1):c.3482_3492delAAGATACTAGT (p.Glu1161Valfs) 886040133 MedGen:C2676676,OMIM:604370 17 43092039 43092049 ACTAGTATCTT - 261731 deletion NM_007294.3(BRCA1):c.3482_3492delAAGATACTAGT (p.Glu1161Valfs) 886040133 MedGen:C2676676,OMIM:604370 17 41244056 41244066 ACTAGTATCTT - 261732 deletion NM_007294.3(BRCA1):c.3485_3491delATACTAG (p.Asp1162Valfs) 886040135 MedGen:C2676676,OMIM:604370 17 43092040 43092046 CTAGTAT - 261732 deletion NM_007294.3(BRCA1):c.3485_3491delATACTAG (p.Asp1162Valfs) 886040135 MedGen:C2676676,OMIM:604370 17 41244057 41244063 CTAGTAT - 261733 deletion NM_007294.3(BRCA1):c.3485_3488delATAC (p.Asp1162Valfs) 886040134 MedGen:C2676676,OMIM:604370 17 41244060 41244063 GTAT - 261733 deletion NM_007294.3(BRCA1):c.3485_3488delATAC (p.Asp1162Valfs) 886040134 MedGen:C2676676,OMIM:604370 17 43092043 43092046 GTAT - 261734 deletion NM_007294.3(BRCA1):c.3479_3483delAGGAA (p.Lys1160Argfs) 886040132 MedGen:C2676676,OMIM:604370 17 41244065 41244069 TTCCT - 261734 deletion NM_007294.3(BRCA1):c.3479_3483delAGGAA (p.Lys1160Argfs) 886040132 MedGen:C2676676,OMIM:604370 17 43092048 43092052 TTCCT - 261735 deletion NM_007294.3(BRCA1):c.3478_3479delAA (p.Lys1160Glyfs) 886040131 MedGen:C2676676,OMIM:604370 17 43092052 43092053 TT - 261735 deletion NM_007294.3(BRCA1):c.3478_3479delAA (p.Lys1160Glyfs) 886040131 MedGen:C2676676,OMIM:604370 17 41244069 41244070 TT - 261736 single nucleotide variant NM_007294.3(BRCA1):c.3461T>G (p.Leu1154Ter) 886040130 MedGen:C2676676,OMIM:604370 17 41244087 41244087 A C 261736 single nucleotide variant NM_007294.3(BRCA1):c.3461T>G (p.Leu1154Ter) 886040130 MedGen:C2676676,OMIM:604370 17 43092070 43092070 A C 261737 indel NM_007294.3(BRCA1):c.3416_3427delGTAGTCATGCATinsC (p.Ser1139Thrfs) 886040128 MedGen:C2676676,OMIM:604370 17 43092104 43092115 ATGCATGACTAC G 261737 indel NM_007294.3(BRCA1):c.3416_3427delGTAGTCATGCATinsC (p.Ser1139Thrfs) 886040128 MedGen:C2676676,OMIM:604370 17 41244121 41244132 ATGCATGACTAC G 261738 duplication NM_007294.3(BRCA1):c.3413dupG (p.Ser1139Lysfs) 886040127 MedGen:C2676676,OMIM:604370 17 41244135 41244135 C CC 261738 duplication NM_007294.3(BRCA1):c.3413dupG (p.Ser1139Lysfs) 886040127 MedGen:C2676676,OMIM:604370 17 43092118 43092118 C CC 261739 single nucleotide variant NM_007294.3(BRCA1):c.3412G>T (p.Gly1138Ter) 886040126 MedGen:C2676676,OMIM:604370;MedGen:CN221809 17 43092119 43092119 C A 261739 single nucleotide variant NM_007294.3(BRCA1):c.3412G>T (p.Gly1138Ter) 886040126 MedGen:C2676676,OMIM:604370;MedGen:CN221809 17 41244136 41244136 C A 261740 deletion NM_007294.3(BRCA1):c.3396delC (p.Leu1133Terfs) 886040125 MedGen:C2676676,OMIM:604370 17 41244152 41244152 G - 261740 deletion NM_007294.3(BRCA1):c.3396delC (p.Leu1133Terfs) 886040125 MedGen:C2676676,OMIM:604370 17 43092135 43092135 G - 261741 deletion NM_007294.3(BRCA1):c.3395delA (p.Asn1132Thrfs) 886040124 MedGen:C2676676,OMIM:604370 17 41244153 41244153 T - 261741 deletion NM_007294.3(BRCA1):c.3395delA (p.Asn1132Thrfs) 886040124 MedGen:C2676676,OMIM:604370 17 43092136 43092136 T - 261742 deletion NM_007294.3(BRCA1):c.3384_3391delGATTTCAG (p.Ile1129Terfs) 886040122 MedGen:C2676676,OMIM:604370 17 41244157 41244164 CTGAAATC - 261742 deletion NM_007294.3(BRCA1):c.3384_3391delGATTTCAG (p.Ile1129Terfs) 886040122 MedGen:C2676676,OMIM:604370 17 43092140 43092147 CTGAAATC - 261743 deletion NM_007294.3(BRCA1):c.3388delT (p.Ser1130Glnfs) 886040123 MedGen:C2676676,OMIM:604370 17 41244160 41244160 A - 261743 deletion NM_007294.3(BRCA1):c.3388delT (p.Ser1130Glnfs) 886040123 MedGen:C2676676,OMIM:604370 17 43092143 43092143 A - 261744 single nucleotide variant NM_007294.3(BRCA1):c.3381T>G (p.Tyr1127Ter) 781319410 MedGen:C2676676,OMIM:604370 17 41244167 41244167 A C 261744 single nucleotide variant NM_007294.3(BRCA1):c.3381T>G (p.Tyr1127Ter) 781319410 MedGen:C2676676,OMIM:604370 17 43092150 43092150 A C 261745 duplication NM_007294.3(BRCA1):c.3373dupT (p.Ser1125Phefs) 886040121 MedGen:C2676676,OMIM:604370 17 41244175 41244175 A AA 261745 duplication NM_007294.3(BRCA1):c.3373dupT (p.Ser1125Phefs) 886040121 MedGen:C2676676,OMIM:604370 17 43092158 43092158 A AA 261746 deletion NM_007294.3(BRCA1):c.3358_3368delGTTAATACAGA (p.Val1120Phefs) 886040118 MedGen:C2676676,OMIM:604370 17 41244180 41244190 TCTGTATTAAC - 261746 deletion NM_007294.3(BRCA1):c.3358_3368delGTTAATACAGA (p.Val1120Phefs) 886040118 MedGen:C2676676,OMIM:604370 17 43092163 43092173 TCTGTATTAAC - 261747 duplication NM_007294.3(BRCA1):c.3360dupT (p.Asn1121Terfs) 886040120 MedGen:C2676676,OMIM:604370 17 43092171 43092171 A AA 261747 duplication NM_007294.3(BRCA1):c.3360dupT (p.Asn1121Terfs) 886040120 MedGen:C2676676,OMIM:604370 17 41244188 41244188 A AA 261748 deletion NM_007294.3(BRCA1):c.3339_3341delTGA (p.Tyr1113_Ser1448delinsTer) 886040117 MedGen:C2676676,OMIM:604370 17 41244207 41244209 TCA - 261748 deletion NM_007294.3(BRCA1):c.3339_3341delTGA (p.Tyr1113_Ser1448delinsTer) 886040117 MedGen:C2676676,OMIM:604370 17 43092190 43092192 TCA - 261749 deletion NM_007294.3(BRCA1):c.3331_3335delCAAGA (p.Gln1111Ilefs) 886040115 MedGen:C2676676,OMIM:604370 17 43092196 43092200 TCTTG - 261749 deletion NM_007294.3(BRCA1):c.3331_3335delCAAGA (p.Gln1111Ilefs) 886040115 MedGen:C2676676,OMIM:604370 17 41244213 41244217 TCTTG - 261750 deletion NM_007294.3(BRCA1):c.3331delC (p.Gln1111Lysfs) 886040116 MedGen:C2676676,OMIM:604370 17 43092200 43092200 G - 261750 deletion NM_007294.3(BRCA1):c.3331delC (p.Gln1111Lysfs) 886040116 MedGen:C2676676,OMIM:604370 17 41244217 41244217 G - 261751 insertion NM_007294.3(BRCA1):c.3308_3309insC (p.Lys1104Terfs) 886040113 MedGen:C2676676,OMIM:604370 17 41244239 41244240 - G 261751 insertion NM_007294.3(BRCA1):c.3308_3309insC (p.Lys1104Terfs) 886040113 MedGen:C2676676,OMIM:604370 17 43092222 43092223 - G 261752 duplication NM_007294.3(BRCA1):c.3243_3288dup46 (p.Ser1097Cysfs) 483353088 MedGen:C2676676,OMIM:604370 17 41244260 41244305 na na 261752 duplication NM_007294.3(BRCA1):c.3243_3288dup46 (p.Ser1097Cysfs) 483353088 MedGen:C2676676,OMIM:604370 17 43092243 43092288 na na 261753 single nucleotide variant NM_007294.3(BRCA1):c.3282T>G (p.Tyr1094Ter) 886040111 MedGen:C2676676,OMIM:604370 17 41244266 41244266 A C 261753 single nucleotide variant NM_007294.3(BRCA1):c.3282T>G (p.Tyr1094Ter) 886040111 MedGen:C2676676,OMIM:604370 17 43092249 43092249 A C 261754 deletion NM_007294.3(BRCA1):c.3262_3277del16 (p.Val1088Serfs) 886040108 MedGen:C2676676,OMIM:604370 17 43092254 43092269 na na 261754 deletion NM_007294.3(BRCA1):c.3262_3277del16 (p.Val1088Serfs) 886040108 MedGen:C2676676,OMIM:604370 17 41244271 41244286 na na 261755 single nucleotide variant NM_007294.3(BRCA1):c.3266T>A (p.Leu1089Ter) 886040110 MedGen:C2676676,OMIM:604370 17 41244282 41244282 A T 261755 single nucleotide variant NM_007294.3(BRCA1):c.3266T>A (p.Leu1089Ter) 886040110 MedGen:C2676676,OMIM:604370 17 43092265 43092265 A T 261756 deletion NM_007294.3(BRCA1):c.3266delT (p.Leu1089Cysfs) 886040109 MedGen:C2676676,OMIM:604370 17 41244282 41244282 A - 261756 deletion NM_007294.3(BRCA1):c.3266delT (p.Leu1089Cysfs) 886040109 MedGen:C2676676,OMIM:604370 17 43092265 43092265 A - 261757 deletion NM_007294.3(BRCA1):c.3258delA (p.Val1088Phefs) 886040107 MedGen:C2676676,OMIM:604370 17 41244290 41244290 T - 261757 deletion NM_007294.3(BRCA1):c.3258delA (p.Val1088Phefs) 886040107 MedGen:C2676676,OMIM:604370 17 43092273 43092273 T - 261758 deletion NM_007294.3(BRCA1):c.3217_3218delGG (p.Gly1073Terfs) 886040106 MedGen:C2676676,OMIM:604370 17 41244330 41244331 CC - 261758 deletion NM_007294.3(BRCA1):c.3217_3218delGG (p.Gly1073Terfs) 886040106 MedGen:C2676676,OMIM:604370 17 43092313 43092314 CC - 261759 duplication NM_007294.3(BRCA1):c.3211_3212dupGA (p.Leu1072Asnfs) 886040105 MedGen:C2676676,OMIM:604370 17 41244336 41244337 TC TCTC 261759 duplication NM_007294.3(BRCA1):c.3211_3212dupGA (p.Leu1072Asnfs) 886040105 MedGen:C2676676,OMIM:604370 17 43092319 43092320 TC TCTC 261760 duplication NM_007294.3(BRCA1):c.3210dupA (p.Glu1071Argfs) 886040104 MedGen:C2676676,OMIM:604370 17 41244338 41244338 T TT 261760 duplication NM_007294.3(BRCA1):c.3210dupA (p.Glu1071Argfs) 886040104 MedGen:C2676676,OMIM:604370 17 43092321 43092321 T TT 261761 duplication NM_007294.3(BRCA1):c.3150_3208dup59 (p.Ala1070Valfs) -1 MedGen:C2676676,OMIM:604370 17 43092323 43092381 na na 261761 duplication NM_007294.3(BRCA1):c.3150_3208dup59 (p.Ala1070Valfs) -1 MedGen:C2676676,OMIM:604370 17 41244340 41244398 na na 261762 deletion NM_007294.3(BRCA1):c.3203_3206delTTCA (p.Ile1068Lysfs) 886040102 MedGen:C2676676,OMIM:604370 17 41244342 41244345 TGAA - 261762 deletion NM_007294.3(BRCA1):c.3203_3206delTTCA (p.Ile1068Lysfs) 886040102 MedGen:C2676676,OMIM:604370 17 43092325 43092328 TGAA - 261763 deletion NM_007294.3(BRCA1):c.3205delC (p.Gln1069Lysfs) 886040103 MedGen:C2676676,OMIM:604370 17 41244343 41244343 G - 261763 deletion NM_007294.3(BRCA1):c.3205delC (p.Gln1069Lysfs) 886040103 MedGen:C2676676,OMIM:604370 17 43092326 43092326 G - 261764 deletion NM_007294.3(BRCA1):c.3182delT (p.Ile1061Lysfs) 886040101 MedGen:C2676676,OMIM:604370 17 43092349 43092349 A - 261764 deletion NM_007294.3(BRCA1):c.3182delT (p.Ile1061Lysfs) 886040101 MedGen:C2676676,OMIM:604370 17 41244366 41244366 A - 261765 deletion NM_007294.3(BRCA1):c.3143delG (p.Gly1048Valfs) 886040100 MedGen:C2676676,OMIM:604370 17 41244405 41244405 C - 261765 deletion NM_007294.3(BRCA1):c.3143delG (p.Gly1048Valfs) 886040100 MedGen:C2676676,OMIM:604370 17 43092388 43092388 C - 261766 deletion NM_007294.3(BRCA1):c.3117_3120delCAGC (p.Ser1040Glnfs) 886040099 MedGen:C2676676,OMIM:604370 17 41244428 41244431 GCTG - 261766 deletion NM_007294.3(BRCA1):c.3117_3120delCAGC (p.Ser1040Glnfs) 886040099 MedGen:C2676676,OMIM:604370 17 43092411 43092414 GCTG - 261767 deletion NM_007294.3(BRCA1):c.3115delG (p.Ala1039Profs) 886040098 MedGen:C2676676,OMIM:604370 17 41244433 41244433 C - 261767 deletion NM_007294.3(BRCA1):c.3115delG (p.Ala1039Profs) 886040098 MedGen:C2676676,OMIM:604370 17 43092416 43092416 C - 261768 insertion NM_007294.3(BRCA1):c.3109_3110insT (p.Lys1037Ilefs) 886040096 MedGen:C2676676,OMIM:604370 17 41244438 41244439 - A 261768 insertion NM_007294.3(BRCA1):c.3109_3110insT (p.Lys1037Ilefs) 886040096 MedGen:C2676676,OMIM:604370 17 43092421 43092422 - A 261769 duplication NM_007294.3(BRCA1):c.3087_3100dupTAACATTAGAGAAA (p.Asn1034Ilefs) 80357967 MedGen:C2676676,OMIM:604370 17 41244448 41244461 TTTCTCTAATGTTA TTTCTCTAATGTTATTTCTCTAATGTTA 261769 duplication NM_007294.3(BRCA1):c.3087_3100dupTAACATTAGAGAAA (p.Asn1034Ilefs) 80357967 MedGen:C2676676,OMIM:604370 17 43092431 43092444 TTTCTCTAATGTTA TTTCTCTAATGTTATTTCTCTAATGTTA 261770 insertion NM_007294.3(BRCA1):c.3075_3076insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA (p.Ile1026Glyfs) 886040095 MedGen:C2676676,OMIM:604370 17 41244472 41244473 - TGTGCTCACTGTACTTGGAATGATCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCC 261770 insertion NM_007294.3(BRCA1):c.3075_3076insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA (p.Ile1026Glyfs) 886040095 MedGen:C2676676,OMIM:604370 17 43092455 43092456 - TGTGCTCACTGTACTTGGAATGATCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCC 261771 duplication NM_007294.3(BRCA1):c.3024dupG (p.Ser1009Valfs) 886040094 MedGen:C2676676,OMIM:604370 17 43092507 43092507 C CC 261771 duplication NM_007294.3(BRCA1):c.3024dupG (p.Ser1009Valfs) 886040094 MedGen:C2676676,OMIM:604370 17 41244524 41244524 C CC 261772 deletion NM_007294.3(BRCA1):c.3020_3023delCAAT (p.Ser1007Cysfs) 886040093 MedGen:C2676676,OMIM:604370 17 43092508 43092511 ATTG - 261772 deletion NM_007294.3(BRCA1):c.3020_3023delCAAT (p.Ser1007Cysfs) 886040093 MedGen:C2676676,OMIM:604370 17 41244525 41244528 ATTG - 261773 single nucleotide variant NM_007294.3(BRCA1):c.3010G>T (p.Glu1004Ter) 786202534 MedGen:C2676676,OMIM:604370 17 41244538 41244538 C A 261773 single nucleotide variant NM_007294.3(BRCA1):c.3010G>T (p.Glu1004Ter) 786202534 MedGen:C2676676,OMIM:604370 17 43092521 43092521 C A 261774 deletion NM_007294.3(BRCA1):c.3006_3009delCTTT (p.Asn1002Lysfs) 886040092 MedGen:C2676676,OMIM:604370 17 41244539 41244542 AAAG - 261774 deletion NM_007294.3(BRCA1):c.3006_3009delCTTT (p.Asn1002Lysfs) 886040092 MedGen:C2676676,OMIM:604370 17 43092522 43092525 AAAG - 261775 deletion NM_007294.3(BRCA1):c.2981delG (p.Cys994Leufs) 886040091 MedGen:C2676676,OMIM:604370 17 41244567 41244567 C - 261775 deletion NM_007294.3(BRCA1):c.2981delG (p.Cys994Leufs) 886040091 MedGen:C2676676,OMIM:604370 17 43092550 43092550 C - 261776 single nucleotide variant NM_007294.3(BRCA1):c.2971A>T (p.Lys991Ter) 886040090 MedGen:C2676676,OMIM:604370 17 41244577 41244577 T A 261776 single nucleotide variant NM_007294.3(BRCA1):c.2971A>T (p.Lys991Ter) 886040090 MedGen:C2676676,OMIM:604370 17 43092560 43092560 T A 261777 deletion NM_007294.3(BRCA1):c.2970delT (p.Thr992Leufs) 886040089 MedGen:C2676676,OMIM:604370 17 43092561 43092561 A - 261777 deletion NM_007294.3(BRCA1):c.2970delT (p.Thr992Leufs) 886040089 MedGen:C2676676,OMIM:604370 17 41244578 41244578 A - 261778 duplication NM_007294.3(BRCA1):c.2960dupA (p.Ser988Valfs) 886040088 MedGen:C2676676,OMIM:604370 17 43092571 43092571 T TT 261778 duplication NM_007294.3(BRCA1):c.2960dupA (p.Ser988Valfs) 886040088 MedGen:C2676676,OMIM:604370 17 41244588 41244588 T TT 261779 single nucleotide variant NM_007294.3(BRCA1):c.2959A>T (p.Lys987Ter) 878854941 MedGen:C2676676,OMIM:604370 17 43092572 43092572 T A 261779 single nucleotide variant NM_007294.3(BRCA1):c.2959A>T (p.Lys987Ter) 878854941 MedGen:C2676676,OMIM:604370 17 41244589 41244589 T A 261780 deletion NM_007294.3(BRCA1):c.2951_2952delTT (p.Phe984Serfs) 886040087 MedGen:C2676676,OMIM:604370 17 41244596 41244597 AA - 261780 deletion NM_007294.3(BRCA1):c.2951_2952delTT (p.Phe984Serfs) 886040087 MedGen:C2676676,OMIM:604370 17 43092579 43092580 AA - 261781 deletion NM_007294.3(BRCA1):c.2917_2920delCTTT (p.Leu973Tyrfs) 886040086 MedGen:C2676676,OMIM:604370 17 43092611 43092614 AAAG - 261781 deletion NM_007294.3(BRCA1):c.2917_2920delCTTT (p.Leu973Tyrfs) 886040086 MedGen:C2676676,OMIM:604370 17 41244628 41244631 AAAG - 261782 indel NM_007294.3(BRCA1):c.2906_2908delATAinsCT (p.Asn969Thrfs) 886040084 MedGen:C2676676,OMIM:604370 17 43092623 43092625 TAT AG 261782 indel NM_007294.3(BRCA1):c.2906_2908delATAinsCT (p.Asn969Thrfs) 886040084 MedGen:C2676676,OMIM:604370 17 41244640 41244642 TAT AG 261783 deletion NM_007294.3(BRCA1):c.2906delA (p.Asn969Ilefs) 886040085 MedGen:C2676676,OMIM:604370 17 43092625 43092625 T - 261783 deletion NM_007294.3(BRCA1):c.2906delA (p.Asn969Ilefs) 886040085 MedGen:C2676676,OMIM:604370 17 41244642 41244642 T - 261784 insertion NM_007294.3(BRCA1):c.2903_2904insTC (p.Asn969Glnfs) 886040083 MedGen:C2676676,OMIM:604370 17 41244644 41244645 - GA 261784 insertion NM_007294.3(BRCA1):c.2903_2904insTC (p.Asn969Glnfs) 886040083 MedGen:C2676676,OMIM:604370 17 43092627 43092628 - GA 261785 single nucleotide variant NM_007294.3(BRCA1):c.2890G>T (p.Gly964Ter) 879254027 MedGen:C2676676,OMIM:604370 17 43092641 43092641 C A 261785 single nucleotide variant NM_007294.3(BRCA1):c.2890G>T (p.Gly964Ter) 879254027 MedGen:C2676676,OMIM:604370 17 41244658 41244658 C A 261786 deletion NM_007294.3(BRCA1):c.2882delA (p.Asn961Thrfs) 886040082 MedGen:C2676676,OMIM:604370 17 41244666 41244666 T - 261786 deletion NM_007294.3(BRCA1):c.2882delA (p.Asn961Thrfs) 886040082 MedGen:C2676676,OMIM:604370 17 43092649 43092649 T - 261787 deletion NM_007294.3(BRCA1):c.2878_2879delGG (p.Gly960Glnfs) 886040081 MedGen:C2676676,OMIM:604370 17 41244669 41244670 CC - 261787 deletion NM_007294.3(BRCA1):c.2878_2879delGG (p.Gly960Glnfs) 886040081 MedGen:C2676676,OMIM:604370 17 43092652 43092653 CC - 261788 deletion NM_007294.3(BRCA1):c.2875delA (p.Arg959Glufs) 886040080 MedGen:C2676676,OMIM:604370 17 41244673 41244673 T - 261788 deletion NM_007294.3(BRCA1):c.2875delA (p.Arg959Glufs) 886040080 MedGen:C2676676,OMIM:604370 17 43092656 43092656 T - 261789 single nucleotide variant NM_007294.3(BRCA1):c.2864C>G (p.Ser955Ter) 80357295 MedGen:C2676676,OMIM:604370 17 41244684 41244684 G C 261789 single nucleotide variant NM_007294.3(BRCA1):c.2864C>G (p.Ser955Ter) 80357295 MedGen:C2676676,OMIM:604370 17 43092667 43092667 G C 261790 deletion NM_007294.3(BRCA1):c.2861_2864delTATC (p.Leu954Hisfs) 886040078 MedGen:C2676676,OMIM:604370 17 43092667 43092670 GATA - 261790 deletion NM_007294.3(BRCA1):c.2861_2864delTATC (p.Leu954Hisfs) 886040078 MedGen:C2676676,OMIM:604370 17 41244684 41244687 GATA - 261791 duplication NM_007294.3(BRCA1):c.2861dupT (p.Ser955Ilefs) 886040079 MedGen:C2676676,OMIM:604370 17 43092670 43092670 A AA 261791 duplication NM_007294.3(BRCA1):c.2861dupT (p.Ser955Ilefs) 886040079 MedGen:C2676676,OMIM:604370 17 41244687 41244687 A AA 261792 insertion NM_007294.3(BRCA1):c.2850_2851insC (p.Arg951Glnfs) 886040077 MedGen:C2676676,OMIM:604370 17 43092680 43092681 - G 261792 insertion NM_007294.3(BRCA1):c.2850_2851insC (p.Arg951Glnfs) 886040077 MedGen:C2676676,OMIM:604370 17 41244697 41244698 - G 261793 duplication NM_007294.3(BRCA1):c.2850dupT (p.Arg951Terfs) 886040077 MedGen:C2676676,OMIM:604370 17 43092681 43092681 A AA 261793 duplication NM_007294.3(BRCA1):c.2850dupT (p.Arg951Terfs) 886040077 MedGen:C2676676,OMIM:604370 17 41244698 41244698 A AA 261794 deletion NM_007294.3(BRCA1):c.2843delG (p.Gly948Glufs) 886040076 MedGen:C2676676,OMIM:604370 17 43092688 43092688 C - 261794 deletion NM_007294.3(BRCA1):c.2843delG (p.Gly948Glufs) 886040076 MedGen:C2676676,OMIM:604370 17 41244705 41244705 C - 261795 deletion NM_007294.3(BRCA1):c.2823delT (p.Asn941Lysfs) 886040075 MedGen:C2676676,OMIM:604370 17 41244725 41244725 A - 261795 deletion NM_007294.3(BRCA1):c.2823delT (p.Asn941Lysfs) 886040075 MedGen:C2676676,OMIM:604370 17 43092708 43092708 A - 261796 deletion NM_007294.3(BRCA1):c.2814delA (p.Val939Leufs) 886040074 MedGen:C2676676,OMIM:604370 17 41244734 41244734 T - 261796 deletion NM_007294.3(BRCA1):c.2814delA (p.Val939Leufs) 886040074 MedGen:C2676676,OMIM:604370 17 43092717 43092717 T - 261797 insertion NM_007294.3(BRCA1):c.2787_2788insTTATCACTGCAGGCTTT (p.Pro930Leufs) 886040073 MedGen:C2676676,OMIM:604370 17 41244760 41244761 - AAAGCCTGCAGTGATAA 261797 insertion NM_007294.3(BRCA1):c.2787_2788insTTATCACTGCAGGCTTT (p.Pro930Leufs) 886040073 MedGen:C2676676,OMIM:604370 17 43092743 43092744 - AAAGCCTGCAGTGATAA 261798 duplication NM_007294.3(BRCA1):c.2778dupT (p.Ala927Cysfs) 886040072 MedGen:C2676676,OMIM:604370 17 43092753 43092753 A AA 261798 duplication NM_007294.3(BRCA1):c.2778dupT (p.Ala927Cysfs) 886040072 MedGen:C2676676,OMIM:604370 17 41244770 41244770 A AA 261799 deletion NM_007294.3(BRCA1):c.2776_2777delAC (p.Thr926Cysfs) 886040070 MedGen:C2676676,OMIM:604370 17 43092754 43092755 GT - 261799 deletion NM_007294.3(BRCA1):c.2776_2777delAC (p.Thr926Cysfs) 886040070 MedGen:C2676676,OMIM:604370 17 41244771 41244772 GT - 261800 insertion NM_007294.3(BRCA1):c.2776_2777insTA (p.Thr926Ilefs) 886040071 MedGen:C2676676,OMIM:604370 17 43092754 43092755 - TA 261800 insertion NM_007294.3(BRCA1):c.2776_2777insTA (p.Thr926Ilefs) 886040071 MedGen:C2676676,OMIM:604370 17 41244771 41244772 - TA 261801 indel NM_007294.3(BRCA1):c.2753_2755delAGCinsCA (p.Lys918Thrfs) 886040069 MedGen:C2676676,OMIM:604370 17 43092776 43092778 GCT TG 261801 indel NM_007294.3(BRCA1):c.2753_2755delAGCinsCA (p.Lys918Thrfs) 886040069 MedGen:C2676676,OMIM:604370 17 41244793 41244795 GCT TG 261802 deletion NM_007294.3(BRCA1):c.2751delC (p.Lys918Serfs) 886040068 MedGen:C2676676,OMIM:604370 17 41244797 41244797 G - 261802 deletion NM_007294.3(BRCA1):c.2751delC (p.Lys918Serfs) 886040068 MedGen:C2676676,OMIM:604370 17 43092780 43092780 G - 261803 deletion NM_007294.3(BRCA1):c.2750delT (p.Ile917Thrfs) 886040067 MedGen:C2676676,OMIM:604370 17 43092781 43092781 A - 261803 deletion NM_007294.3(BRCA1):c.2750delT (p.Ile917Thrfs) 886040067 MedGen:C2676676,OMIM:604370 17 41244798 41244798 A - 261804 deletion NM_007294.3(BRCA1):c.2709_2710delTG (p.Cys903Terfs) 886040065 MedGen:C2676676,OMIM:604370 17 41244838 41244839 CA - 261804 deletion NM_007294.3(BRCA1):c.2709_2710delTG (p.Cys903Terfs) 886040065 MedGen:C2676676,OMIM:604370 17 43092821 43092822 CA - 261805 deletion NM_007294.3(BRCA1):c.2710delG (p.Glu904Asnfs) 886040066 MedGen:C2676676,OMIM:604370 17 41244838 41244838 C - 261805 deletion NM_007294.3(BRCA1):c.2710delG (p.Glu904Asnfs) 886040066 MedGen:C2676676,OMIM:604370 17 43092821 43092821 C - 261806 deletion NM_007294.3(BRCA1):c.2704delG (p.Glu902Asnfs) 886040064 MedGen:C2676676,OMIM:604370 17 41244844 41244844 C - 261806 deletion NM_007294.3(BRCA1):c.2704delG (p.Glu902Asnfs) 886040064 MedGen:C2676676,OMIM:604370 17 43092827 43092827 C - 261807 deletion NM_007294.3(BRCA1):c.2694delA (p.Val899Serfs) 886040063 MedGen:C2676676,OMIM:604370 17 41244854 41244854 T - 261807 deletion NM_007294.3(BRCA1):c.2694delA (p.Val899Serfs) 886040063 MedGen:C2676676,OMIM:604370 17 43092837 43092837 T - 261808 deletion NM_007294.3(BRCA1):c.2687_2693delGTCCAAA (p.Ser896Lysfs) 886040062 MedGen:C2676676,OMIM:604370 17 41244855 41244861 TTTGGAC - 261808 deletion NM_007294.3(BRCA1):c.2687_2693delGTCCAAA (p.Ser896Lysfs) 886040062 MedGen:C2676676,OMIM:604370 17 43092838 43092844 TTTGGAC - 261809 deletion NM_007294.3(BRCA1):c.2683_2693delCAAAGTCCAAA (p.Gln895Serfs) 886040061 MedGen:C2676676,OMIM:604370 17 41244855 41244865 TTTGGACTTTG - 261809 deletion NM_007294.3(BRCA1):c.2683_2693delCAAAGTCCAAA (p.Gln895Serfs) 886040061 MedGen:C2676676,OMIM:604370 17 43092838 43092848 TTTGGACTTTG - 261810 duplication NM_007294.3(BRCA1):c.2678dupA (p.Lys894Glufs) 886040060 MedGen:C2676676,OMIM:604370 17 41244870 41244870 T TT 261810 duplication NM_007294.3(BRCA1):c.2678dupA (p.Lys894Glufs) 886040060 MedGen:C2676676,OMIM:604370 17 43092853 43092853 T TT 261811 single nucleotide variant NM_007294.3(BRCA1):c.2675T>G (p.Leu892Ter) 397508994 MedGen:C2676676,OMIM:604370 17 41244873 41244873 A C 261811 single nucleotide variant NM_007294.3(BRCA1):c.2675T>G (p.Leu892Ter) 397508994 MedGen:C2676676,OMIM:604370 17 43092856 43092856 A C 261812 duplication NM_007294.3(BRCA1):c.2652dupA (p.Phe885Ilefs) 886040059 MedGen:C2676676,OMIM:604370 17 43092879 43092879 T TT 261812 duplication NM_007294.3(BRCA1):c.2652dupA (p.Phe885Ilefs) 886040059 MedGen:C2676676,OMIM:604370 17 41244896 41244896 T TT 261813 deletion NM_007294.3(BRCA1):c.2649_2650delAA (p.Thr884Ilefs) 886040058 MedGen:C2676676,OMIM:604370 17 41244898 41244899 TT - 261813 deletion NM_007294.3(BRCA1):c.2649_2650delAA (p.Thr884Ilefs) 886040058 MedGen:C2676676,OMIM:604370 17 43092881 43092882 TT - 261814 insertion NM_007294.3(BRCA1):c.2648_2649insGGCA (p.Thr884Alafs) 886040057 MedGen:C2676676,OMIM:604370 17 41244899 41244900 - TGCC 261814 insertion NM_007294.3(BRCA1):c.2648_2649insGGCA (p.Thr884Alafs) 886040057 MedGen:C2676676,OMIM:604370 17 43092882 43092883 - TGCC 261815 deletion NM_007294.3(BRCA1):c.2637delA (p.Glu880Argfs) 886040056 MedGen:C2676676,OMIM:604370 17 41244911 41244911 T - 261815 deletion NM_007294.3(BRCA1):c.2637delA (p.Glu880Argfs) 886040056 MedGen:C2676676,OMIM:604370 17 43092894 43092894 T - 261816 deletion NM_007294.3(BRCA1):c.2617delT (p.Ser873Glnfs) 886040055 MedGen:C2676676,OMIM:604370 17 43092914 43092914 A - 261816 deletion NM_007294.3(BRCA1):c.2617delT (p.Ser873Glnfs) 886040055 MedGen:C2676676,OMIM:604370 17 41244931 41244931 A - 261817 deletion NM_007294.3(BRCA1):c.2587delG (p.Val863Phefs) 886040053 MedGen:C2676676,OMIM:604370 17 43092944 43092944 C - 261817 deletion NM_007294.3(BRCA1):c.2587delG (p.Val863Phefs) 886040053 MedGen:C2676676,OMIM:604370 17 41244961 41244961 C - 261818 insertion NM_007294.3(BRCA1):c.2577_2578insTT (p.Thr860Leufs) 886040052 MedGen:C2676676,OMIM:604370 17 41244970 41244971 - AA 261818 insertion NM_007294.3(BRCA1):c.2577_2578insTT (p.Thr860Leufs) 886040052 MedGen:C2676676,OMIM:604370 17 43092953 43092954 - AA 261819 deletion NM_007294.3(BRCA1):c.2552_2553delAA (p.Glu851Alafs) 886040050 MedGen:C2676676,OMIM:604370 17 43092978 43092979 TT - 261819 deletion NM_007294.3(BRCA1):c.2552_2553delAA (p.Glu851Alafs) 886040050 MedGen:C2676676,OMIM:604370 17 41244995 41244996 TT - 261820 duplication NM_007294.3(BRCA1):c.2552_2553dupAA (p.Leu852Asnfs) 886040051 MedGen:C2676676,OMIM:604370 17 43092978 43092979 TT TTTT 261820 duplication NM_007294.3(BRCA1):c.2552_2553dupAA (p.Leu852Asnfs) 886040051 MedGen:C2676676,OMIM:604370 17 41244995 41244996 TT TTTT 261821 single nucleotide variant NM_007294.3(BRCA1):c.2551G>T (p.Glu851Ter) 398122662 MedGen:C2676676,OMIM:604370 17 41244997 41244997 C A 261821 single nucleotide variant NM_007294.3(BRCA1):c.2551G>T (p.Glu851Ter) 398122662 MedGen:C2676676,OMIM:604370 17 43092980 43092980 C A 261822 deletion NM_007294.3(BRCA1):c.2542_2545delGAAG (p.Glu848Lysfs) 886040049 MedGen:C2676676,OMIM:604370 17 43092986 43092989 CTTC - 261822 deletion NM_007294.3(BRCA1):c.2542_2545delGAAG (p.Glu848Lysfs) 886040049 MedGen:C2676676,OMIM:604370 17 41245003 41245006 CTTC - 261823 indel NM_007294.3(BRCA1):c.2538_2540delAATinsG (p.Met847Glyfs) 886040048 MedGen:C2676676,OMIM:604370 17 43092991 43092993 ATT C 261823 indel NM_007294.3(BRCA1):c.2538_2540delAATinsG (p.Met847Glyfs) 886040048 MedGen:C2676676,OMIM:604370 17 41245008 41245010 ATT C 261824 single nucleotide variant NM_007294.3(BRCA1):c.2536G>T (p.Glu846Ter) 786203523 MedGen:C2676676,OMIM:604370 17 41245012 41245012 C A 261824 single nucleotide variant NM_007294.3(BRCA1):c.2536G>T (p.Glu846Ter) 786203523 MedGen:C2676676,OMIM:604370 17 43092995 43092995 C A 261825 deletion NM_007294.3(BRCA1):c.2532_2536delCATAG (p.Ser844Argfs) 886040047 MedGen:C2676676,OMIM:604370 17 43092995 43092999 CTATG - 261825 deletion NM_007294.3(BRCA1):c.2532_2536delCATAG (p.Ser844Argfs) 886040047 MedGen:C2676676,OMIM:604370 17 41245012 41245016 CTATG - 261826 deletion NM_007294.3(BRCA1):c.2529_2530delAA (p.Ser844Hisfs) 886040046 MedGen:C2676676,OMIM:604370 17 41245018 41245019 TT - 261826 deletion NM_007294.3(BRCA1):c.2529_2530delAA (p.Ser844Hisfs) 886040046 MedGen:C2676676,OMIM:604370 17 43093001 43093002 TT - 261827 single nucleotide variant NM_007294.3(BRCA1):c.2524G>T (p.Glu842Ter) 876658552 MedGen:C2676676,OMIM:604370 17 43093007 43093007 C A 261827 single nucleotide variant NM_007294.3(BRCA1):c.2524G>T (p.Glu842Ter) 876658552 MedGen:C2676676,OMIM:604370 17 41245024 41245024 C A 261828 duplication NM_007294.3(BRCA1):c.2524dupG (p.Glu842Glyfs) 886040045 MedGen:C2676676,OMIM:604370 17 43093007 43093007 C CC 261828 duplication NM_007294.3(BRCA1):c.2524dupG (p.Glu842Glyfs) 886040045 MedGen:C2676676,OMIM:604370 17 41245024 41245024 C CC 261829 deletion NM_007294.3(BRCA1):c.2501delG (p.Gly834Aspfs) 886040044 MedGen:C2676676,OMIM:604370 17 43093030 43093030 C - 261829 deletion NM_007294.3(BRCA1):c.2501delG (p.Gly834Aspfs) 886040044 MedGen:C2676676,OMIM:604370 17 41245047 41245047 C - 261830 duplication NM_007294.3(BRCA1):c.2490_2497dupGTATCCAT (p.Leu833Cysfs) 397508973 MedGen:C2676676,OMIM:604370 17 41245051 41245058 ATGGATAC ATGGATACATGGATAC 261830 duplication NM_007294.3(BRCA1):c.2490_2497dupGTATCCAT (p.Leu833Cysfs) 397508973 MedGen:C2676676,OMIM:604370 17 43093034 43093041 ATGGATAC ATGGATACATGGATAC 261831 deletion NM_007294.3(BRCA1):c.2489_2492delAGTA (p.Lys830Ilefs) 886040043 MedGen:C2676676,OMIM:604370 17 41245056 41245059 TACT - 261831 deletion NM_007294.3(BRCA1):c.2489_2492delAGTA (p.Lys830Ilefs) 886040043 MedGen:C2676676,OMIM:604370 17 43093039 43093042 TACT - 261832 indel NM_007294.3(BRCA1):c.2477_2492del16insTG (p.Thr826Metfs) 886040041 MedGen:C2676676,OMIM:604370 17 41245056 41245071 na CA 261832 indel NM_007294.3(BRCA1):c.2477_2492del16insTG (p.Thr826Metfs) 886040041 MedGen:C2676676,OMIM:604370 17 43093039 43093054 na CA 261833 insertion NM_007294.3(BRCA1):c.2487_2488insCCCCT (p.Lys830Profs) 397508972 MedGen:C2676676,OMIM:604370 17 41245060 41245061 - AGGGG 261833 insertion NM_007294.3(BRCA1):c.2487_2488insCCCCT (p.Lys830Profs) 397508972 MedGen:C2676676,OMIM:604370 17 43093043 43093044 - AGGGG 261834 deletion NM_007294.3(BRCA1):c.2481delA (p.Gly828Alafs) 886040042 MedGen:C2676676,OMIM:604370 17 43093050 43093050 T - 261834 deletion NM_007294.3(BRCA1):c.2481delA (p.Gly828Alafs) 886040042 MedGen:C2676676,OMIM:604370 17 41245067 41245067 T - 261835 deletion NM_007294.3(BRCA1):c.2473delG (p.Asp825Thrfs) 886040040 MedGen:C2676676,OMIM:604370 17 43093058 43093058 C - 261835 deletion NM_007294.3(BRCA1):c.2473delG (p.Asp825Thrfs) 886040040 MedGen:C2676676,OMIM:604370 17 41245075 41245075 C - 261836 insertion NM_007294.3(BRCA1):c.2442_2443insT (p.Ile815Tyrfs) 886040038 MedGen:C2676676,OMIM:604370 17 43093088 43093089 - A 261836 insertion NM_007294.3(BRCA1):c.2442_2443insT (p.Ile815Tyrfs) 886040038 MedGen:C2676676,OMIM:604370 17 41245105 41245106 - A 261837 duplication NM_007294.3(BRCA1):c.2429dupA (p.Asn810Lysfs) 886040037 MedGen:C2676676,OMIM:604370 17 43093102 43093102 T TT 261837 duplication NM_007294.3(BRCA1):c.2429dupA (p.Asn810Lysfs) 886040037 MedGen:C2676676,OMIM:604370 17 41245119 41245119 T TT 261838 duplication NM_007294.3(BRCA1):c.2418dupA (p.Ala807Serfs) 886040036 MedGen:C2676676,OMIM:604370 17 43093113 43093113 T TT 261838 duplication NM_007294.3(BRCA1):c.2418dupA (p.Ala807Serfs) 886040036 MedGen:C2676676,OMIM:604370 17 41245130 41245130 T TT 261839 deletion NM_007294.3(BRCA1):c.2398_2411delAAATGTGTGAGTCA (p.Lys800Valfs) 886040034 MedGen:C2676676,OMIM:604370 17 43093120 43093133 TGACTCACACATTT - 261839 deletion NM_007294.3(BRCA1):c.2398_2411delAAATGTGTGAGTCA (p.Lys800Valfs) 886040034 MedGen:C2676676,OMIM:604370 17 41245137 41245150 TGACTCACACATTT - 261840 deletion NM_007294.3(BRCA1):c.2411delA (p.Gln804Argfs) 886040035 MedGen:C2676676,OMIM:604370 17 43093120 43093120 T - 261840 deletion NM_007294.3(BRCA1):c.2411delA (p.Gln804Argfs) 886040035 MedGen:C2676676,OMIM:604370 17 41245137 41245137 T - 261841 deletion NM_007294.3(BRCA1):c.2396delA (p.Asn799Ilefs) 886040033 MedGen:C2676676,OMIM:604370 17 43093135 43093135 T - 261841 deletion NM_007294.3(BRCA1):c.2396delA (p.Asn799Ilefs) 886040033 MedGen:C2676676,OMIM:604370 17 41245152 41245152 T - 261842 duplication NM_007294.3(BRCA1):c.2387dupC (p.Glu797Argfs) 886040031 MedGen:C2676676,OMIM:604370 17 43093144 43093144 G GG 261842 duplication NM_007294.3(BRCA1):c.2387dupC (p.Glu797Argfs) 886040031 MedGen:C2676676,OMIM:604370 17 41245161 41245161 G GG 261843 deletion NM_007294.3(BRCA1):c.2368_2369delAC (p.Thr790Serfs) 886040029 MedGen:C2676676,OMIM:604370 17 43093162 43093163 GT - 261843 deletion NM_007294.3(BRCA1):c.2368_2369delAC (p.Thr790Serfs) 886040029 MedGen:C2676676,OMIM:604370 17 41245179 41245180 GT - 261844 deletion NM_007294.3(BRCA1):c.2361delA (p.Val788Leufs) 886040028 MedGen:C2676676,OMIM:604370 17 43093170 43093170 T - 261844 deletion NM_007294.3(BRCA1):c.2361delA (p.Val788Leufs) 886040028 MedGen:C2676676,OMIM:604370 17 41245187 41245187 T - 261845 duplication NM_007294.3(BRCA1):c.2346dupT (p.Ile783Tyrfs) 886040027 MedGen:C2676676,OMIM:604370 17 43093185 43093185 A AA 261845 duplication NM_007294.3(BRCA1):c.2346dupT (p.Ile783Tyrfs) 886040027 MedGen:C2676676,OMIM:604370 17 41245202 41245202 A AA 261846 deletion NM_007294.3(BRCA1):c.2340_2343delGGAA (p.Glu781Valfs) 886040026 MedGen:C2676676,OMIM:604370 17 43093188 43093191 TTCC - 261846 deletion NM_007294.3(BRCA1):c.2340_2343delGGAA (p.Glu781Valfs) 886040026 MedGen:C2676676,OMIM:604370 17 41245205 41245208 TTCC - 261847 single nucleotide variant NM_007294.3(BRCA1):c.2331T>G (p.Tyr777Ter) 80357444 MedGen:C2676676,OMIM:604370 17 43093200 43093200 A C 261847 single nucleotide variant NM_007294.3(BRCA1):c.2331T>G (p.Tyr777Ter) 80357444 MedGen:C2676676,OMIM:604370 17 41245217 41245217 A C 261848 deletion NM_007294.3(BRCA1):c.2322delT (p.Thr775Leufs) 886040025 MedGen:C2676676,OMIM:604370 17 43093209 43093209 A - 261848 deletion NM_007294.3(BRCA1):c.2322delT (p.Thr775Leufs) 886040025 MedGen:C2676676,OMIM:604370 17 41245226 41245226 A - 261849 deletion NM_007294.3(BRCA1):c.2314_2315delGT (p.Val772Thrfs) 886040024 MedGen:C2676676,OMIM:604370 17 41245233 41245234 AC - 261849 deletion NM_007294.3(BRCA1):c.2314_2315delGT (p.Val772Thrfs) 886040024 MedGen:C2676676,OMIM:604370 17 43093216 43093217 AC - 261850 deletion NM_007294.3(BRCA1):c.2307_2313delTTCATTG (p.Ile769Metfs) 886040022 MedGen:C2676676,OMIM:604370 17 43093218 43093224 CAATGAA - 261850 deletion NM_007294.3(BRCA1):c.2307_2313delTTCATTG (p.Ile769Metfs) 886040022 MedGen:C2676676,OMIM:604370 17 41245235 41245241 CAATGAA - 261851 insertion NM_007294.3(BRCA1):c.2311_2312insC (p.Leu771Serfs) 886040023 MedGen:C2676676,OMIM:604370 17 41245236 41245237 - G 261851 insertion NM_007294.3(BRCA1):c.2311_2312insC (p.Leu771Serfs) 886040023 MedGen:C2676676,OMIM:604370 17 43093219 43093220 - G 261852 single nucleotide variant NM_007294.3(BRCA1):c.2309C>G (p.Ser770Ter) 80357063 MedGen:C2676676,OMIM:604370 17 43093222 43093222 G C 261852 single nucleotide variant NM_007294.3(BRCA1):c.2309C>G (p.Ser770Ter) 80357063 MedGen:C2676676,OMIM:604370 17 41245239 41245239 G C 261853 deletion NM_007294.3(BRCA1):c.2273delT (p.Leu758Cysfs) 886040021 MedGen:C2676676,OMIM:604370 17 43093258 43093258 A - 261853 deletion NM_007294.3(BRCA1):c.2273delT (p.Leu758Cysfs) 886040021 MedGen:C2676676,OMIM:604370 17 41245275 41245275 A - 261854 deletion NM_007294.3(BRCA1):c.2222_2223delCT (p.Ser741Terfs) 886040019 MedGen:C2676676,OMIM:604370 17 41245325 41245326 AG - 261854 deletion NM_007294.3(BRCA1):c.2222_2223delCT (p.Ser741Terfs) 886040019 MedGen:C2676676,OMIM:604370 17 43093308 43093309 AG - 261855 duplication NM_007294.3(BRCA1):c.2223dupT (p.Asn742Terfs) 886040020 MedGen:C2676676,OMIM:604370 17 41245325 41245325 A AA 261855 duplication NM_007294.3(BRCA1):c.2223dupT (p.Asn742Terfs) 886040020 MedGen:C2676676,OMIM:604370 17 43093308 43093308 A AA 261856 duplication NM_007294.3(BRCA1):c.2155_2221dup67 (p.Ser741Terfs) -1 MedGen:C2676676,OMIM:604370 17 43093310 43093376 na na 261856 duplication NM_007294.3(BRCA1):c.2155_2221dup67 (p.Ser741Terfs) -1 MedGen:C2676676,OMIM:604370 17 41245327 41245393 na na 261857 indel NM_007294.3(BRCA1):c.2214_2218delTAAAGinsAAA (p.Lys739Asnfs) 886040017 MedGen:C2676676,OMIM:604370 17 43093313 43093317 CTTTA TTT 261857 indel NM_007294.3(BRCA1):c.2214_2218delTAAAGinsAAA (p.Lys739Asnfs) 886040017 MedGen:C2676676,OMIM:604370 17 41245330 41245334 CTTTA TTT 261858 deletion NM_007294.3(BRCA1):c.2218delG (p.Val740Cysfs) 886040018 MedGen:C2676676,OMIM:604370 17 43093313 43093313 C - 261858 deletion NM_007294.3(BRCA1):c.2218delG (p.Val740Cysfs) 886040018 MedGen:C2676676,OMIM:604370 17 41245330 41245330 C - 261859 duplication NM_007294.3(BRCA1):c.2211dupA (p.Val738Serfs) 886040016 MedGen:C2676676,OMIM:604370 17 43093320 43093320 T TT 261859 duplication NM_007294.3(BRCA1):c.2211dupA (p.Val738Serfs) 886040016 MedGen:C2676676,OMIM:604370 17 41245337 41245337 T TT 261860 deletion NM_007294.3(BRCA1):c.2205delA (p.Glu736Lysfs) 886040015 MedGen:C2676676,OMIM:604370 17 43093326 43093326 T - 261860 deletion NM_007294.3(BRCA1):c.2205delA (p.Glu736Lysfs) 886040015 MedGen:C2676676,OMIM:604370 17 41245343 41245343 T - 261861 duplication NM_007294.3(BRCA1):c.2202dupA (p.Leu735Thrfs) 886040014 MedGen:C2676676,OMIM:604370 17 43093329 43093329 T TT 261861 duplication NM_007294.3(BRCA1):c.2202dupA (p.Leu735Thrfs) 886040014 MedGen:C2676676,OMIM:604370 17 41245346 41245346 T TT 261862 duplication NM_007294.3(BRCA1):c.2198dupA (p.Lys734Glufs) 886040012 MedGen:C2676676,OMIM:604370 17 43093333 43093333 T TT 261862 duplication NM_007294.3(BRCA1):c.2198dupA (p.Lys734Glufs) 886040012 MedGen:C2676676,OMIM:604370 17 41245350 41245350 T TT 261863 indel NM_007294.3(BRCA1):c.2195_2196delAAinsG (p.Glu732Glyfs) 886040011 MedGen:C2676676,OMIM:604370 17 43093335 43093336 TT C 261863 indel NM_007294.3(BRCA1):c.2195_2196delAAinsG (p.Glu732Glyfs) 886040011 MedGen:C2676676,OMIM:604370 17 41245352 41245353 TT C 261864 indel NM_007294.3(BRCA1):c.2188_2195delGAAAAAGAinsAAAAAGG (p.Glu730Lysfs) 886040008 MedGen:C2676676,OMIM:604370 17 43093336 43093343 TCTTTTTC CCTTTTT 261864 indel NM_007294.3(BRCA1):c.2188_2195delGAAAAAGAinsAAAAAGG (p.Glu730Lysfs) 886040008 MedGen:C2676676,OMIM:604370 17 41245353 41245360 TCTTTTTC CCTTTTT 261865 indel NM_007294.3(BRCA1):c.2194delGinsAA (p.Glu732Lysfs) 886040010 MedGen:C2676676,OMIM:604370 17 43093337 43093337 C TT 261865 indel NM_007294.3(BRCA1):c.2194delGinsAA (p.Glu732Lysfs) 886040010 MedGen:C2676676,OMIM:604370 17 41245354 41245354 C TT 261866 deletion NM_007294.3(BRCA1):c.2193delA (p.Glu732Lysfs) 886040009 MedGen:C2676676,OMIM:604370 17 43093338 43093338 T - 261866 deletion NM_007294.3(BRCA1):c.2193delA (p.Glu732Lysfs) 886040009 MedGen:C2676676,OMIM:604370 17 41245355 41245355 T - 261867 deletion NM_007294.3(BRCA1):c.2185_2189delGAAGA (p.Glu729Lysfs) 886040007 MedGen:C2676676,OMIM:604370 17 43093342 43093346 TCTTC - 261867 deletion NM_007294.3(BRCA1):c.2185_2189delGAAGA (p.Glu729Lysfs) 886040007 MedGen:C2676676,OMIM:604370 17 41245359 41245363 TCTTC - 261868 insertion NM_007294.3(BRCA1):c.2161_2162insG (p.Phe721Cysfs) 886040006 MedGen:C2676676,OMIM:604370 17 43093369 43093370 - C 261868 insertion NM_007294.3(BRCA1):c.2161_2162insG (p.Phe721Cysfs) 886040006 MedGen:C2676676,OMIM:604370 17 41245386 41245387 - C 261869 deletion NM_007294.3(BRCA1):c.2157_2160delAGAA (p.Lys719Asnfs) 886040005 MedGen:C2676676,OMIM:604370 17 43093371 43093374 TTCT - 261869 deletion NM_007294.3(BRCA1):c.2157_2160delAGAA (p.Lys719Asnfs) 886040005 MedGen:C2676676,OMIM:604370 17 41245388 41245391 TTCT - 261870 single nucleotide variant NM_007294.3(BRCA1):c.2149G>T (p.Glu717Ter) 886040004 MedGen:C2676676,OMIM:604370 17 43093382 43093382 C A 261870 single nucleotide variant NM_007294.3(BRCA1):c.2149G>T (p.Glu717Ter) 886040004 MedGen:C2676676,OMIM:604370 17 41245399 41245399 C A 261871 indel NM_007294.3(BRCA1):c.2142_2144delTACinsAG (p.Asn714Lysfs) 886040003 MedGen:C2676676,OMIM:604370 17 43093387 43093389 GTA CT 261871 indel NM_007294.3(BRCA1):c.2142_2144delTACinsAG (p.Asn714Lysfs) 886040003 MedGen:C2676676,OMIM:604370 17 41245404 41245406 GTA CT 261872 duplication NM_007294.3(BRCA1):c.2138_2139dupCA (p.Asn714Glnfs) 886040002 MedGen:C2676676,OMIM:604370 17 43093392 43093393 TG TGTG 261872 duplication NM_007294.3(BRCA1):c.2138_2139dupCA (p.Asn714Glnfs) 886040002 MedGen:C2676676,OMIM:604370 17 41245409 41245410 TG TGTG 261873 deletion NM_007294.3(BRCA1):c.2135_2136delGT (p.Cys712Phefs) 886040001 MedGen:C2676676,OMIM:604370 17 43093395 43093396 AC - 261873 deletion NM_007294.3(BRCA1):c.2135_2136delGT (p.Cys712Phefs) 886040001 MedGen:C2676676,OMIM:604370 17 41245412 41245413 AC - 261874 duplication NM_007294.3(BRCA1):c.2112_2131dup20 (p.Lys711Metfs) 886039998 MedGen:C2676676,OMIM:604370 17 43093400 43093419 na na 261874 duplication NM_007294.3(BRCA1):c.2112_2131dup20 (p.Lys711Metfs) 886039998 MedGen:C2676676,OMIM:604370 17 41245417 41245436 na na 261875 insertion NM_007294.3(BRCA1):c.2127_2128insGA (p.Thr710Glufs) 886039999 MedGen:C2676676,OMIM:604370 17 43093403 43093404 - TC 261875 insertion NM_007294.3(BRCA1):c.2127_2128insGA (p.Thr710Glufs) 886039999 MedGen:C2676676,OMIM:604370 17 41245420 41245421 - TC 261876 deletion NM_007294.3(BRCA1):c.2127delT (p.Phe709Leufs) 886040000 MedGen:C2676676,OMIM:604370 17 43093404 43093404 A - 261876 deletion NM_007294.3(BRCA1):c.2127delT (p.Phe709Leufs) 886040000 MedGen:C2676676,OMIM:604370 17 41245421 41245421 A - 261877 insertion NM_007294.3(BRCA1):c.2125_2126insAGT (p.Phe709_Asn1043delinsTer) 80357871 MedGen:C2676676,OMIM:604370 17 43093405 43093406 - ACT 261877 insertion NM_007294.3(BRCA1):c.2125_2126insAGT (p.Phe709_Asn1043delinsTer) 80357871 MedGen:C2676676,OMIM:604370 17 41245422 41245423 - ACT 261878 deletion NM_007294.3(BRCA1):c.2105delT (p.Leu702Terfs) 886039997 MedGen:C2676676,OMIM:604370 17 43093426 43093426 A - 261878 deletion NM_007294.3(BRCA1):c.2105delT (p.Leu702Terfs) 886039997 MedGen:C2676676,OMIM:604370 17 41245443 41245443 A - 261879 duplication NM_007294.3(BRCA1):c.2090dupT (p.Glu699Argfs) 886039996 MedGen:C2676676,OMIM:604370 17 41245458 41245458 A AA 261879 duplication NM_007294.3(BRCA1):c.2090dupT (p.Glu699Argfs) 886039996 MedGen:C2676676,OMIM:604370 17 43093441 43093441 A AA 261880 deletion NM_007294.3(BRCA1):c.2086_2089delACTT (p.Thr696Serfs) 886039994 MedGen:C2676676,OMIM:604370 17 43093442 43093445 AAGT - 261880 deletion NM_007294.3(BRCA1):c.2086_2089delACTT (p.Thr696Serfs) 886039994 MedGen:C2676676,OMIM:604370 17 41245459 41245462 AAGT - 261881 duplication NM_007294.3(BRCA1):c.2086dupA (p.Thr696Asnfs) 886039995 MedGen:C2676676,OMIM:604370 17 43093445 43093445 T TT 261881 duplication NM_007294.3(BRCA1):c.2086dupA (p.Thr696Asnfs) 886039995 MedGen:C2676676,OMIM:604370 17 41245462 41245462 T TT 261882 duplication NM_007294.3(BRCA1):c.2080dupA (p.Ser694Lysfs) 886039993 MedGen:C2676676,OMIM:604370 17 41245468 41245468 T TT 261882 duplication NM_007294.3(BRCA1):c.2080dupA (p.Ser694Lysfs) 886039993 MedGen:C2676676,OMIM:604370 17 43093451 43093451 T TT 261883 insertion NM_007294.3(BRCA1):c.2078_2079insTA (p.Ser694Thrfs) 886039992 MedGen:C2676676,OMIM:604370 17 43093452 43093453 - TA 261883 insertion NM_007294.3(BRCA1):c.2078_2079insTA (p.Ser694Thrfs) 886039992 MedGen:C2676676,OMIM:604370 17 41245469 41245470 - TA 261884 indel NM_007294.3(BRCA1):c.2077delGinsATA (p.Asp693Ilefs) 886039991 MedGen:C2676676,OMIM:604370 17 43093454 43093454 C TAT 261884 indel NM_007294.3(BRCA1):c.2077delGinsATA (p.Asp693Ilefs) 886039991 MedGen:C2676676,OMIM:604370 17 41245471 41245471 C TAT 261885 single nucleotide variant NM_007294.3(BRCA1):c.2068A>T (p.Lys690Ter) 587781448 MedGen:C2676676,OMIM:604370 17 43093463 43093463 T A 261885 single nucleotide variant NM_007294.3(BRCA1):c.2068A>T (p.Lys690Ter) 587781448 MedGen:C2676676,OMIM:604370 17 41245480 41245480 T A 261886 duplication NM_007294.3(BRCA1):c.2012dupG (p.Lys672Terfs) 886039989 MedGen:C2676676,OMIM:604370 17 41245536 41245536 C CC 261886 duplication NM_007294.3(BRCA1):c.2012dupG (p.Lys672Terfs) 886039989 MedGen:C2676676,OMIM:604370 17 43093519 43093519 C CC 261887 deletion NM_007294.3(BRCA1):c.1978delG (p.Val660Serfs) 886039988 MedGen:C2676676,OMIM:604370 17 43093553 43093553 C - 261887 deletion NM_007294.3(BRCA1):c.1978delG (p.Val660Serfs) 886039988 MedGen:C2676676,OMIM:604370 17 41245570 41245570 C - 261888 single nucleotide variant NM_007294.3(BRCA1):c.1965C>A (p.Tyr655Ter) 886039987 MedGen:C2676676,OMIM:604370 17 43093566 43093566 G T 261888 single nucleotide variant NM_007294.3(BRCA1):c.1965C>A (p.Tyr655Ter) 886039987 MedGen:C2676676,OMIM:604370 17 41245583 41245583 G T 261889 deletion NM_007294.3(BRCA1):c.1953delG (p.Lys654Serfs) 886039986 MedGen:C2676676,OMIM:604370 17 43093578 43093578 C - 261889 deletion NM_007294.3(BRCA1):c.1953delG (p.Lys654Serfs) 886039986 MedGen:C2676676,OMIM:604370 17 41245595 41245595 C - 261890 deletion NM_007294.3(BRCA1):c.1949_1952delTAAA (p.Ile650Argfs) 886039985 MedGen:C2676676,OMIM:604370 17 43093579 43093582 TTTA - 261890 deletion NM_007294.3(BRCA1):c.1949_1952delTAAA (p.Ile650Argfs) 886039985 MedGen:C2676676,OMIM:604370 17 41245596 41245599 TTTA - 261891 deletion NM_007294.3(BRCA1):c.1938_1945delCAGTGAAG (p.Ser646Argfs) 886039983 MedGen:C2676676,OMIM:604370 17 43093586 43093593 CTTCACTG - 261891 deletion NM_007294.3(BRCA1):c.1938_1945delCAGTGAAG (p.Ser646Argfs) 886039983 MedGen:C2676676,OMIM:604370 17 41245603 41245610 CTTCACTG - 261892 single nucleotide variant NM_007294.3(BRCA1):c.1942G>T (p.Glu648Ter) 886039984 MedGen:C2676676,OMIM:604370 17 43093589 43093589 C A 261892 single nucleotide variant NM_007294.3(BRCA1):c.1942G>T (p.Glu648Ter) 886039984 MedGen:C2676676,OMIM:604370 17 41245606 41245606 C A 261893 deletion NM_007294.3(BRCA1):c.1930delT (p.Cys644Valfs) 886039982 MedGen:C2676676,OMIM:604370 17 41245618 41245618 A - 261893 deletion NM_007294.3(BRCA1):c.1930delT (p.Cys644Valfs) 886039982 MedGen:C2676676,OMIM:604370 17 43093601 43093601 A - 261894 single nucleotide variant NM_007294.3(BRCA1):c.1918C>T (p.Gln640Ter) 886039981 MedGen:C2676676,OMIM:604370 17 41245630 41245630 G A 261894 single nucleotide variant NM_007294.3(BRCA1):c.1918C>T (p.Gln640Ter) 886039981 MedGen:C2676676,OMIM:604370 17 43093613 43093613 G A 261895 deletion NM_007294.3(BRCA1):c.1908_1911delTACT (p.Cys636Trpfs) 886039980 MedGen:C2676676,OMIM:604370 17 41245637 41245640 AGTA - 261895 deletion NM_007294.3(BRCA1):c.1908_1911delTACT (p.Cys636Trpfs) 886039980 MedGen:C2676676,OMIM:604370 17 43093620 43093623 AGTA - 261896 deletion NM_007294.3(BRCA1):c.1905_1909delTTGTA (p.Cys636Terfs) 886039979 MedGen:C2676676,OMIM:604370 17 41245639 41245643 TACAA - 261896 deletion NM_007294.3(BRCA1):c.1905_1909delTTGTA (p.Cys636Terfs) 886039979 MedGen:C2676676,OMIM:604370 17 43093622 43093626 TACAA - 261897 duplication NM_007294.3(BRCA1):c.1887_1900dupAAATCTAAGCCCAC (p.Pro634Glnfs) 886039977 MedGen:C2676676,OMIM:604370 17 41245648 41245661 GTGGGCTTAGATTT GTGGGCTTAGATTTGTGGGCTTAGATTT 261897 duplication NM_007294.3(BRCA1):c.1887_1900dupAAATCTAAGCCCAC (p.Pro634Glnfs) 886039977 MedGen:C2676676,OMIM:604370 17 43093631 43093644 GTGGGCTTAGATTT GTGGGCTTAGATTTGTGGGCTTAGATTT 261898 deletion NM_007294.3(BRCA1):c.1885delA (p.Arg629Glufs) 886039976 MedGen:C2676676,OMIM:604370 17 41245663 41245663 T - 261898 deletion NM_007294.3(BRCA1):c.1885delA (p.Arg629Glufs) 886039976 MedGen:C2676676,OMIM:604370 17 43093646 43093646 T - 261899 insertion NM_007294.3(BRCA1):c.1878_1879insTAGT (p.Val627Terfs) 886039975 MedGen:C2676676,OMIM:604370 17 43093652 43093653 - ACTA 261899 insertion NM_007294.3(BRCA1):c.1878_1879insTAGT (p.Val627Terfs) 886039975 MedGen:C2676676,OMIM:604370 17 41245669 41245670 - ACTA 261900 deletion NM_007294.3(BRCA1):c.1847delC (p.Ser616Leufs) 886039974 MedGen:C2676676,OMIM:604370 17 41245701 41245701 G - 261900 deletion NM_007294.3(BRCA1):c.1847delC (p.Ser616Leufs) 886039974 MedGen:C2676676,OMIM:604370 17 43093684 43093684 G - 261901 insertion NM_007294.3(BRCA1):c.1844_1845insG (p.Ser616Phefs) 886039973 MedGen:C2676676,OMIM:604370 17 41245703 41245704 - C 261901 insertion NM_007294.3(BRCA1):c.1844_1845insG (p.Ser616Phefs) 886039973 MedGen:C2676676,OMIM:604370 17 43093686 43093687 - C 261902 deletion NM_007294.3(BRCA1):c.1820_1823delAAAA (p.Lys607Argfs) 886039972 MedGen:C2676676,OMIM:604370 17 41245725 41245728 TTTT - 261902 deletion NM_007294.3(BRCA1):c.1820_1823delAAAA (p.Lys607Argfs) 886039972 MedGen:C2676676,OMIM:604370 17 43093708 43093711 TTTT - 261903 deletion NM_007294.3(BRCA1):c.1803delC (p.His601Glnfs) 886039970 MedGen:C2676676,OMIM:604370 17 41245745 41245745 G - 261903 deletion NM_007294.3(BRCA1):c.1803delC (p.His601Glnfs) 886039970 MedGen:C2676676,OMIM:604370 17 43093728 43093728 G - 261904 deletion NM_007294.3(BRCA1):c.1795_1798delAATA (p.Asn599Serfs) 886039968 MedGen:C2676676,OMIM:604370 17 43093733 43093736 TATT - 261904 deletion NM_007294.3(BRCA1):c.1795_1798delAATA (p.Asn599Serfs) 886039968 MedGen:C2676676,OMIM:604370 17 41245750 41245753 TATT - 261905 deletion NM_007294.3(BRCA1):c.1779_1785delTATGGAA (p.Met594Serfs) 886039967 MedGen:C2676676,OMIM:604370 17 41245763 41245769 TTCCATA - 261905 deletion NM_007294.3(BRCA1):c.1779_1785delTATGGAA (p.Met594Serfs) 886039967 MedGen:C2676676,OMIM:604370 17 43093746 43093752 TTCCATA - 261906 duplication NM_007294.3(BRCA1):c.1762dupA (p.Ser588Lysfs) 886039966 MedGen:C2676676,OMIM:604370 17 41245786 41245786 T TT 261906 duplication NM_007294.3(BRCA1):c.1762dupA (p.Ser588Lysfs) 886039966 MedGen:C2676676,OMIM:604370 17 43093769 43093769 T TT 261907 deletion NM_007294.3(BRCA1):c.1749_1755delAGCTGAA (p.Lys583Asnfs) 886039965 MedGen:C2676676,OMIM:604370 17 41245793 41245799 TTCAGCT - 261907 deletion NM_007294.3(BRCA1):c.1749_1755delAGCTGAA (p.Lys583Asnfs) 886039965 MedGen:C2676676,OMIM:604370 17 43093776 43093782 TTCAGCT - 261908 single nucleotide variant NM_007294.3(BRCA1):c.1723G>T (p.Glu575Ter) 397508902 MedGen:C2676676,OMIM:604370 17 41245825 41245825 C A 261908 single nucleotide variant NM_007294.3(BRCA1):c.1723G>T (p.Glu575Ter) 397508902 MedGen:C2676676,OMIM:604370 17 43093808 43093808 C A 261909 single nucleotide variant NM_007294.3(BRCA1):c.1693G>T (p.Glu565Ter) 886039963 MedGen:C2676676,OMIM:604370 17 41245855 41245855 C A 261909 single nucleotide variant NM_007294.3(BRCA1):c.1693G>T (p.Glu565Ter) 886039963 MedGen:C2676676,OMIM:604370 17 43093838 43093838 C A 261910 indel NM_007294.3(BRCA1):c.1637_1685del49insGAAAG (p.Met546Argfs) 483353085 MedGen:C2676676,OMIM:604370 17 43093846 43093894 na CTTTC 261910 indel NM_007294.3(BRCA1):c.1637_1685del49insGAAAG (p.Met546Argfs) 483353085 MedGen:C2676676,OMIM:604370 17 41245863 41245911 na CTTTC 261911 deletion NM_007294.3(BRCA1):c.1669delA (p.Thr557Glnfs) 886039962 MedGen:C2676676,OMIM:604370 17 41245879 41245879 T - 261911 deletion NM_007294.3(BRCA1):c.1669delA (p.Thr557Glnfs) 886039962 MedGen:C2676676,OMIM:604370 17 43093862 43093862 T - 261912 insertion NM_007294.3(BRCA1):c.1651_1652insC (p.Ser551Thrfs) 886039961 MedGen:C2676676,OMIM:604370 17 41245896 41245897 - G 261912 insertion NM_007294.3(BRCA1):c.1651_1652insC (p.Ser551Thrfs) 886039961 MedGen:C2676676,OMIM:604370 17 43093879 43093880 - G 261913 deletion NM_007294.3(BRCA1):c.1642_1643delAT (p.Ile548Tyrfs) 886039960 MedGen:C2676676,OMIM:604370 17 41245905 41245906 AT - 261913 deletion NM_007294.3(BRCA1):c.1642_1643delAT (p.Ile548Tyrfs) 886039960 MedGen:C2676676,OMIM:604370 17 43093888 43093889 AT - 261914 deletion NM_007294.3(BRCA1):c.1616_1625delCGGAGCAGAA (p.Thr539Metfs) 886039959 MedGen:C2676676,OMIM:604370 17 41245923 41245932 TTCTGCTCCG - 261914 deletion NM_007294.3(BRCA1):c.1616_1625delCGGAGCAGAA (p.Thr539Metfs) 886039959 MedGen:C2676676,OMIM:604370 17 43093906 43093915 TTCTGCTCCG - 261915 single nucleotide variant NM_007294.3(BRCA1):c.1618G>T (p.Glu540Ter) 730881471 MedGen:C2676676,OMIM:604370 17 41245930 41245930 C A 261915 single nucleotide variant NM_007294.3(BRCA1):c.1618G>T (p.Glu540Ter) 730881471 MedGen:C2676676,OMIM:604370 17 43093913 43093913 C A 261916 deletion NM_007294.3(BRCA1):c.1575delT (p.Gln526Lysfs) 886039958 MedGen:C2676676,OMIM:604370 17 41245973 41245973 A - 261916 deletion NM_007294.3(BRCA1):c.1575delT (p.Gln526Lysfs) 886039958 MedGen:C2676676,OMIM:604370 17 43093956 43093956 A - 261917 single nucleotide variant NM_007294.3(BRCA1):c.1529C>A (p.Ser510Ter) 80357427 MedGen:C2676676,OMIM:604370 17 43094002 43094002 G T 261917 single nucleotide variant NM_007294.3(BRCA1):c.1529C>A (p.Ser510Ter) 80357427 MedGen:C2676676,OMIM:604370 17 41246019 41246019 G T 261918 deletion NM_007294.3(BRCA1):c.1497_1509delAAATAAATTAAAG (p.Asn500Valfs) 886039954 MedGen:C2676676,OMIM:604370 17 41246039 41246051 CTTTAATTTATTT - 261918 deletion NM_007294.3(BRCA1):c.1497_1509delAAATAAATTAAAG (p.Asn500Valfs) 886039954 MedGen:C2676676,OMIM:604370 17 43094022 43094034 CTTTAATTTATTT - 261919 deletion NM_007294.3(BRCA1):c.1504_1507delTTAA (p.Leu502Serfs) 886039955 MedGen:C2676676,OMIM:604370 17 41246041 41246044 TTAA - 261919 deletion NM_007294.3(BRCA1):c.1504_1507delTTAA (p.Leu502Serfs) 886039955 MedGen:C2676676,OMIM:604370 17 43094024 43094027 TTAA - 261920 single nucleotide variant NM_007294.3(BRCA1):c.1505T>G (p.Leu502Ter) 886039957 MedGen:C2676676,OMIM:604370 17 41246043 41246043 A C 261920 single nucleotide variant NM_007294.3(BRCA1):c.1505T>G (p.Leu502Ter) 886039957 MedGen:C2676676,OMIM:604370 17 43094026 43094026 A C 261921 deletion NM_007294.3(BRCA1):c.1505delT (p.Leu502Terfs) 886039956 MedGen:C2676676,OMIM:604370 17 41246043 41246043 A - 261921 deletion NM_007294.3(BRCA1):c.1505delT (p.Leu502Terfs) 886039956 MedGen:C2676676,OMIM:604370 17 43094026 43094026 A - 261922 deletion NM_007294.3(BRCA1):c.1428_1437delTGTAACTGAA (p.His476Glnfs) 886039953 MedGen:C2676676,OMIM:604370 17 43094094 43094103 TTCAGTTACA - 261922 deletion NM_007294.3(BRCA1):c.1428_1437delTGTAACTGAA (p.His476Glnfs) 886039953 MedGen:C2676676,OMIM:604370 17 41246111 41246120 TTCAGTTACA - 261923 deletion NM_007294.3(BRCA1):c.1419_1422delCTTA (p.Asn473Lysfs) 886039952 MedGen:C2676676,OMIM:604370 17 41246126 41246129 TAAG - 261923 deletion NM_007294.3(BRCA1):c.1419_1422delCTTA (p.Asn473Lysfs) 886039952 MedGen:C2676676,OMIM:604370 17 43094109 43094112 TAAG - 261924 duplication NM_007294.3(BRCA1):c.1412dupT (p.Asn473Glnfs) 886039951 MedGen:C2676676,OMIM:604370 17 41246136 41246136 A AA 261924 duplication NM_007294.3(BRCA1):c.1412dupT (p.Asn473Glnfs) 886039951 MedGen:C2676676,OMIM:604370 17 43094119 43094119 A AA 261925 duplication NM_007294.3(BRCA1):c.1390dupA (p.Thr464Asnfs) 397508867 MedGen:C2676676,OMIM:604370 17 41246158 41246158 T TT 261925 duplication NM_007294.3(BRCA1):c.1390dupA (p.Thr464Asnfs) 397508867 MedGen:C2676676,OMIM:604370 17 43094141 43094141 T TT 261926 deletion NM_007294.3(BRCA1):c.1379delT (p.Ile460Asnfs) 886039949 MedGen:C2676676,OMIM:604370 17 41246169 41246169 A - 261926 deletion NM_007294.3(BRCA1):c.1379delT (p.Ile460Asnfs) 886039949 MedGen:C2676676,OMIM:604370 17 43094152 43094152 A - 261927 duplication NM_007294.3(BRCA1):c.1378dupA (p.Ile460Asnfs) 886039948 MedGen:C2676676,OMIM:604370 17 41246170 41246170 T TT 261927 duplication NM_007294.3(BRCA1):c.1378dupA (p.Ile460Asnfs) 886039948 MedGen:C2676676,OMIM:604370 17 43094153 43094153 T TT 261928 single nucleotide variant NM_007294.3(BRCA1):c.1375A>T (p.Lys459Ter) 886039947 MedGen:C2676676,OMIM:604370 17 41246173 41246173 T A 261928 single nucleotide variant NM_007294.3(BRCA1):c.1375A>T (p.Lys459Ter) 886039947 MedGen:C2676676,OMIM:604370 17 43094156 43094156 T A 261929 deletion NM_007294.3(BRCA1):c.1354delG (p.Val452Terfs) 886039946 MedGen:C2676676,OMIM:604370 17 41246194 41246194 C - 261929 deletion NM_007294.3(BRCA1):c.1354delG (p.Val452Terfs) 886039946 MedGen:C2676676,OMIM:604370 17 43094177 43094177 C - 261930 deletion NM_007294.3(BRCA1):c.1347delC (p.Lys450Asnfs) 886039945 MedGen:C2676676,OMIM:604370 17 41246201 41246201 G - 261930 deletion NM_007294.3(BRCA1):c.1347delC (p.Lys450Asnfs) 886039945 MedGen:C2676676,OMIM:604370 17 43094184 43094184 G - 261931 deletion NM_007294.3(BRCA1):c.1327_1345del19 (p.Lys443Profs) 886039942 MedGen:C2676676,OMIM:604370 17 41246203 41246221 na na 261931 deletion NM_007294.3(BRCA1):c.1327_1345del19 (p.Lys443Profs) 886039942 MedGen:C2676676,OMIM:604370 17 43094186 43094204 na na 261932 deletion NM_007294.3(BRCA1):c.1336delA (p.Arg446Glufs) 886039944 MedGen:C2676676,OMIM:604370 17 41246212 41246212 T - 261932 deletion NM_007294.3(BRCA1):c.1336delA (p.Arg446Glufs) 886039944 MedGen:C2676676,OMIM:604370 17 43094195 43094195 T - 261933 deletion NM_007294.3(BRCA1):c.1333delG (p.Glu445Lysfs) 886039943 MedGen:C2676676,OMIM:604370 17 43094198 43094198 C - 261933 deletion NM_007294.3(BRCA1):c.1333delG (p.Glu445Lysfs) 886039943 MedGen:C2676676,OMIM:604370 17 41246215 41246215 C - 261934 indel NM_007294.3(BRCA1):c.1303_1309delGATCCTCinsAAAGT (p.Asp435Lysfs) 886039941 MedGen:C2676676,OMIM:604370 17 41246239 41246245 GAGGATC ACTTT 261934 indel NM_007294.3(BRCA1):c.1303_1309delGATCCTCinsAAAGT (p.Asp435Lysfs) 886039941 MedGen:C2676676,OMIM:604370 17 43094222 43094228 GAGGATC ACTTT 261935 duplication NM_007294.3(BRCA1):c.1288dupG (p.Asp430Glyfs) 886039940 MedGen:C2676676,OMIM:604370 17 43094243 43094243 C CC 261935 duplication NM_007294.3(BRCA1):c.1288dupG (p.Asp430Glyfs) 886039940 MedGen:C2676676,OMIM:604370 17 41246260 41246260 C CC 261936 single nucleotide variant NM_007294.3(BRCA1):c.1277C>G (p.Ser426Ter) 886039939 MedGen:C2676676,OMIM:604370 17 41246271 41246271 G C 261936 single nucleotide variant NM_007294.3(BRCA1):c.1277C>G (p.Ser426Ter) 886039939 MedGen:C2676676,OMIM:604370 17 43094254 43094254 G C 261937 single nucleotide variant NM_007294.3(BRCA1):c.1277C>A (p.Ser426Ter) 886039939 MedGen:C2676676,OMIM:604370 17 41246271 41246271 G T 261937 single nucleotide variant NM_007294.3(BRCA1):c.1277C>A (p.Ser426Ter) 886039939 MedGen:C2676676,OMIM:604370 17 43094254 43094254 G T 261938 duplication NM_007294.3(BRCA1):c.1273dupT (p.Ser425Phefs) 886039938 MedGen:C2676676,OMIM:604370 17 43094258 43094258 A AA 261938 duplication NM_007294.3(BRCA1):c.1273dupT (p.Ser425Phefs) 886039938 MedGen:C2676676,OMIM:604370 17 41246275 41246275 A AA 261939 single nucleotide variant NM_007294.3(BRCA1):c.1261G>T (p.Glu421Ter) 80357046 MedGen:C2676676,OMIM:604370 17 41246287 41246287 C A 261939 single nucleotide variant NM_007294.3(BRCA1):c.1261G>T (p.Glu421Ter) 80357046 MedGen:C2676676,OMIM:604370 17 43094270 43094270 C A 261940 deletion NM_007294.3(BRCA1):c.1253delA (p.Glu418Glyfs) 886039937 MedGen:C2676676,OMIM:604370 17 41246295 41246295 T - 261940 deletion NM_007294.3(BRCA1):c.1253delA (p.Glu418Glyfs) 886039937 MedGen:C2676676,OMIM:604370 17 43094278 43094278 T - 261941 duplication NM_007294.3(BRCA1):c.1252dupG (p.Glu418Glyfs) 886039936 MedGen:C2676676,OMIM:604370 17 43094279 43094279 C CC 261941 duplication NM_007294.3(BRCA1):c.1252dupG (p.Glu418Glyfs) 886039936 MedGen:C2676676,OMIM:604370 17 41246296 41246296 C CC 261942 duplication NM_007294.3(BRCA1):c.1227_1230dupAGCT (p.Asp411Serfs) 886039935 MedGen:C2676676,OMIM:604370 17 43094301 43094304 AGCT AGCTAGCT 261942 duplication NM_007294.3(BRCA1):c.1227_1230dupAGCT (p.Asp411Serfs) 886039935 MedGen:C2676676,OMIM:604370 17 41246318 41246321 AGCT AGCTAGCT 261943 single nucleotide variant NM_007294.3(BRCA1):c.1222A>T (p.Lys408Ter) 80357253 MedGen:C2676676,OMIM:604370 17 41246326 41246326 T A 261943 single nucleotide variant NM_007294.3(BRCA1):c.1222A>T (p.Lys408Ter) 80357253 MedGen:C2676676,OMIM:604370 17 43094309 43094309 T A 261944 insertion NM_007294.3(BRCA1):c.1210_1211insCT (p.Glu404Alafs) 886039934 MedGen:C2676676,OMIM:604370 17 41246337 41246338 - AG 261944 insertion NM_007294.3(BRCA1):c.1210_1211insCT (p.Glu404Alafs) 886039934 MedGen:C2676676,OMIM:604370 17 43094320 43094321 - AG 261945 deletion NM_007294.3(BRCA1):c.1209_1210delTG (p.Glu404Ilefs) 886039932 MedGen:C2676676,OMIM:604370 17 43094321 43094322 CA - 261945 deletion NM_007294.3(BRCA1):c.1209_1210delTG (p.Glu404Ilefs) 886039932 MedGen:C2676676,OMIM:604370 17 41246338 41246339 CA - 261946 duplication NM_007294.3(BRCA1):c.1209dupT (p.Glu404Terfs) 886039933 MedGen:C2676676,OMIM:604370 17 41246339 41246339 A AA 261946 duplication NM_007294.3(BRCA1):c.1209dupT (p.Glu404Terfs) 886039933 MedGen:C2676676,OMIM:604370 17 43094322 43094322 A AA 261947 insertion NM_007294.3(BRCA1):c.1179_1180insT (p.Gly394Trpfs) 886039931 MedGen:C2676676,OMIM:604370 17 41246368 41246369 - A 261947 insertion NM_007294.3(BRCA1):c.1179_1180insT (p.Gly394Trpfs) 886039931 MedGen:C2676676,OMIM:604370 17 43094351 43094352 - A 261948 deletion NM_007294.3(BRCA1):c.1174delC (p.Leu392Cysfs) 886039930 MedGen:C2676676,OMIM:604370 17 41246374 41246374 G - 261948 deletion NM_007294.3(BRCA1):c.1174delC (p.Leu392Cysfs) 886039930 MedGen:C2676676,OMIM:604370 17 43094357 43094357 G - 261949 single nucleotide variant NM_007294.3(BRCA1):c.1171G>T (p.Glu391Ter) 562553169 MedGen:C2676676,OMIM:604370 17 41246377 41246377 C A 261949 single nucleotide variant NM_007294.3(BRCA1):c.1171G>T (p.Glu391Ter) 562553169 MedGen:C2676676,OMIM:604370 17 43094360 43094360 C A 261950 deletion NM_007294.3(BRCA1):c.1140delG (p.Val382Leufs) 886039929 MedGen:C2676676,OMIM:604370 17 43094391 43094391 C - 261950 deletion NM_007294.3(BRCA1):c.1140delG (p.Val382Leufs) 886039929 MedGen:C2676676,OMIM:604370 17 41246408 41246408 C - 261951 deletion NM_007294.3(BRCA1):c.1125_1132delAAATAGCA (p.Asn376Hisfs) 886039928 MedGen:C2676676,OMIM:604370 17 41246416 41246423 TGCTATTT - 261951 deletion NM_007294.3(BRCA1):c.1125_1132delAAATAGCA (p.Asn376Hisfs) 886039928 MedGen:C2676676,OMIM:604370 17 43094399 43094406 TGCTATTT - 261952 deletion NM_007294.3(BRCA1):c.1104delA (p.Asp369Metfs) 886039927 MedGen:C2676676,OMIM:604370 17 43094427 43094427 T - 261952 deletion NM_007294.3(BRCA1):c.1104delA (p.Asp369Metfs) 886039927 MedGen:C2676676,OMIM:604370 17 41246444 41246444 T - 261953 deletion NM_007294.3(BRCA1):c.1054delG (p.Glu352Asnfs) 886039926 MedGen:C2676676,OMIM:604370 17 43094477 43094477 C - 261953 deletion NM_007294.3(BRCA1):c.1054delG (p.Glu352Asnfs) 886039926 MedGen:C2676676,OMIM:604370 17 41246494 41246494 C - 261954 deletion NM_007294.3(BRCA1):c.1049_1050delGA (p.Arg350Lysfs) 886039925 MedGen:C2676676,OMIM:604370 17 43094481 43094482 TC - 261954 deletion NM_007294.3(BRCA1):c.1049_1050delGA (p.Arg350Lysfs) 886039925 MedGen:C2676676,OMIM:604370 17 41246498 41246499 TC - 261955 deletion NM_007294.3(BRCA1):c.1044_1047delTGAG (p.Cys348Terfs) 886039924 MedGen:C2676676,OMIM:604370 17 43094484 43094487 CTCA - 261955 deletion NM_007294.3(BRCA1):c.1044_1047delTGAG (p.Cys348Terfs) 886039924 MedGen:C2676676,OMIM:604370 17 41246501 41246504 CTCA - 261956 insertion NM_007294.3(BRCA1):c.1044_1045insTCAC (p.Glu349Serfs) 886039923 MedGen:C2676676,OMIM:604370 17 43094486 43094487 - GTGA 261956 insertion NM_007294.3(BRCA1):c.1044_1045insTCAC (p.Glu349Serfs) 886039923 MedGen:C2676676,OMIM:604370 17 41246503 41246504 - GTGA 261957 insertion NM_007294.3(BRCA1):c.1017_1018insA (p.Val340Serfs) 886039921 MedGen:C2676676,OMIM:604370 17 43094513 43094514 - T 261957 insertion NM_007294.3(BRCA1):c.1017_1018insA (p.Val340Serfs) 886039921 MedGen:C2676676,OMIM:604370 17 41246530 41246531 - T 261958 insertion NM_007294.3(BRCA1):c.1016_1017insC (p.Lys339Asnfs) 80357569 MedGen:C2676676,OMIM:604370 17 41246531 41246532 - G 261958 insertion NM_007294.3(BRCA1):c.1016_1017insC (p.Lys339Asnfs) 80357569 MedGen:C2676676,OMIM:604370 17 43094514 43094515 - G 261959 deletion NM_007294.3(BRCA1):c.944_1007del64 (p.Arg315Lysfs) -1 MedGen:C2676676,OMIM:604370 17 41246541 41246604 na na 261959 deletion NM_007294.3(BRCA1):c.944_1007del64 (p.Arg315Lysfs) -1 MedGen:C2676676,OMIM:604370 17 43094524 43094587 na na 261960 deletion NM_007294.3(BRCA1):c.979delA (p.Thr327Hisfs) 886040337 MedGen:C2676676,OMIM:604370 17 41246569 41246569 T - 261960 deletion NM_007294.3(BRCA1):c.979delA (p.Thr327Hisfs) 886040337 MedGen:C2676676,OMIM:604370 17 43094552 43094552 T - 261961 deletion NM_007294.3(BRCA1):c.966delT (p.Gly323Glufs) 886040336 MedGen:C2676676,OMIM:604370 17 43094565 43094565 A - 261961 deletion NM_007294.3(BRCA1):c.966delT (p.Gly323Glufs) 886040336 MedGen:C2676676,OMIM:604370 17 41246582 41246582 A - 261962 single nucleotide variant NM_007294.3(BRCA1):c.963G>A (p.Trp321Ter) 886040335 MedGen:C2676676,OMIM:604370 17 43094568 43094568 C T 261962 single nucleotide variant NM_007294.3(BRCA1):c.963G>A (p.Trp321Ter) 886040335 MedGen:C2676676,OMIM:604370 17 41246585 41246585 C T 261963 deletion NM_007294.3(BRCA1):c.958delA (p.Arg320Aspfs) 886040334 MedGen:C2676676,OMIM:604370 17 43094573 43094573 T - 261963 deletion NM_007294.3(BRCA1):c.958delA (p.Arg320Aspfs) 886040334 MedGen:C2676676,OMIM:604370 17 41246590 41246590 T - 261964 deletion NM_007294.3(BRCA1):c.953delA (p.His318Leufs) 886040333 MedGen:C2676676,OMIM:604370 17 41246595 41246595 T - 261964 deletion NM_007294.3(BRCA1):c.953delA (p.His318Leufs) 886040333 MedGen:C2676676,OMIM:604370 17 43094578 43094578 T - 261965 single nucleotide variant NM_007294.3(BRCA1):c.925A>T (p.Lys309Ter) 879255498 MedGen:C2676676,OMIM:604370 17 43094606 43094606 T A 261965 single nucleotide variant NM_007294.3(BRCA1):c.925A>T (p.Lys309Ter) 879255498 MedGen:C2676676,OMIM:604370 17 41246623 41246623 T A 261966 deletion NM_007294.3(BRCA1):c.923_924delGC (p.Ser308Lysfs) 886040331 MedGen:C2676676,OMIM:604370 17 43094607 43094608 GC - 261966 deletion NM_007294.3(BRCA1):c.923_924delGC (p.Ser308Lysfs) 886040331 MedGen:C2676676,OMIM:604370 17 41246624 41246625 GC - 261967 single nucleotide variant NM_007294.3(BRCA1):c.898G>T (p.Glu300Ter) 886040330 MedGen:C2676676,OMIM:604370 17 43094633 43094633 C A 261967 single nucleotide variant NM_007294.3(BRCA1):c.898G>T (p.Glu300Ter) 886040330 MedGen:C2676676,OMIM:604370 17 41246650 41246650 C A 261968 deletion NM_007294.3(BRCA1):c.874delC (p.Leu292Serfs) 886040329 MedGen:C2676676,OMIM:604370 17 41246674 41246674 G - 261968 deletion NM_007294.3(BRCA1):c.874delC (p.Leu292Serfs) 886040329 MedGen:C2676676,OMIM:604370 17 43094657 43094657 G - 261969 duplication NM_007294.3(BRCA1):c.873dupA (p.Leu292Thrfs) 886040328 MedGen:C2676676,OMIM:604370 17 41246675 41246675 T TT 261969 duplication NM_007294.3(BRCA1):c.873dupA (p.Leu292Thrfs) 886040328 MedGen:C2676676,OMIM:604370 17 43094658 43094658 T TT 261970 duplication NM_007294.3(BRCA1):c.861_862dupCA (p.Ser288Thrfs) 886040326 MedGen:C2676676,OMIM:604370 17 41246686 41246687 TG TGTG 261970 duplication NM_007294.3(BRCA1):c.861_862dupCA (p.Ser288Thrfs) 886040326 MedGen:C2676676,OMIM:604370 17 43094669 43094670 TG TGTG 261971 deletion NM_007294.3(BRCA1):c.862delA (p.Ser288Alafs) 886040327 MedGen:C2676676,OMIM:604370 17 41246686 41246686 T - 261971 deletion NM_007294.3(BRCA1):c.862delA (p.Ser288Alafs) 886040327 MedGen:C2676676,OMIM:604370 17 43094669 43094669 T - 261972 deletion NM_007294.3(BRCA1):c.829_836delAATACTCA (p.Asn277Cysfs) 886040324 MedGen:C2676676,OMIM:604370 17 43094695 43094702 TGAGTATT - 261972 deletion NM_007294.3(BRCA1):c.829_836delAATACTCA (p.Asn277Cysfs) 886040324 MedGen:C2676676,OMIM:604370 17 41246712 41246719 TGAGTATT - 261973 duplication NM_007294.3(BRCA1):c.832dupA (p.Thr278Asnfs) 886040325 MedGen:C2676676,OMIM:604370 17 43094699 43094699 T TT 261973 duplication NM_007294.3(BRCA1):c.832dupA (p.Thr278Asnfs) 886040325 MedGen:C2676676,OMIM:604370 17 41246716 41246716 T TT 261974 deletion NM_007294.3(BRCA1):c.829_830delAA (p.Asn277Tyrfs) 886040323 MedGen:C2676676,OMIM:604370 17 43094701 43094702 TT - 261974 deletion NM_007294.3(BRCA1):c.829_830delAA (p.Asn277Tyrfs) 886040323 MedGen:C2676676,OMIM:604370 17 41246718 41246719 TT - 261975 duplication NM_007294.3(BRCA1):c.807_817dupGCATGTGGAGC (p.Pro273Argfs) 886040320 MedGen:C2676676,OMIM:604370 17 43094714 43094724 GCTCCACATGC GCTCCACATGCGCTCCACATGC 261975 duplication NM_007294.3(BRCA1):c.807_817dupGCATGTGGAGC (p.Pro273Argfs) 886040320 MedGen:C2676676,OMIM:604370 17 41246731 41246741 GCTCCACATGC GCTCCACATGCGCTCCACATGC 261976 insertion NM_007294.3(BRCA1):c.815_816insTCCATGTGGA (p.Glu272Aspfs) 886040322 MedGen:C2676676,OMIM:604370 17 41246732 41246733 - TCCACATGGA 261976 insertion NM_007294.3(BRCA1):c.815_816insTCCATGTGGA (p.Glu272Aspfs) 886040322 MedGen:C2676676,OMIM:604370 17 43094715 43094716 - TCCACATGGA 261977 single nucleotide variant NM_007294.3(BRCA1):c.814G>T (p.Glu272Ter) 886040321 MedGen:C2676676,OMIM:604370 17 43094717 43094717 C A 261977 single nucleotide variant NM_007294.3(BRCA1):c.814G>T (p.Glu272Ter) 886040321 MedGen:C2676676,OMIM:604370 17 41246734 41246734 C A 261978 duplication NM_007294.3(BRCA1):c.788dupG (p.Ser264Terfs) 886040319 MedGen:C2676676,OMIM:604370 17 41246760 41246760 C CC 261978 duplication NM_007294.3(BRCA1):c.788dupG (p.Ser264Terfs) 886040319 MedGen:C2676676,OMIM:604370 17 43094743 43094743 C CC 261979 deletion NM_007294.3(BRCA1):c.784delC (p.Gln262Argfs) 886040318 MedGen:C2676676,OMIM:604370 17 41246764 41246764 G - 261979 deletion NM_007294.3(BRCA1):c.784delC (p.Gln262Argfs) 886040318 MedGen:C2676676,OMIM:604370 17 43094747 43094747 G - 261980 duplication NM_007294.3(BRCA1):c.778_779dupAA (p.Tyr261Serfs) 886040317 MedGen:C2676676,OMIM:604370 17 43094752 43094753 TT TTTT 261980 duplication NM_007294.3(BRCA1):c.778_779dupAA (p.Tyr261Serfs) 886040317 MedGen:C2676676,OMIM:604370 17 41246769 41246770 TT TTTT 261981 deletion NM_007294.3(BRCA1):c.750_751delGA (p.Lys251Alafs) 886040316 MedGen:C2676676,OMIM:604370 17 41246797 41246798 TC - 261981 deletion NM_007294.3(BRCA1):c.750_751delGA (p.Lys251Alafs) 886040316 MedGen:C2676676,OMIM:604370 17 43094780 43094781 TC - 261982 insertion NM_007294.3(BRCA1):c.743_744insA (p.Thr249Hisfs) 886040315 MedGen:C2676676,OMIM:604370 17 41246804 41246805 - T 261982 insertion NM_007294.3(BRCA1):c.743_744insA (p.Thr249Hisfs) 886040315 MedGen:C2676676,OMIM:604370 17 43094787 43094788 - T 261983 insertion NM_007294.3(BRCA1):c.729_730insGTAACAAATACTGAACATCATCAACCCAGTA (p.Asn244Valfs) 886040314 MedGen:C2676676,OMIM:604370 17 41246818 41246819 - TACTGGGTTGATGATGTTCAGTATTTGTTAC 261983 insertion NM_007294.3(BRCA1):c.729_730insGTAACAAATACTGAACATCATCAACCCAGTA (p.Asn244Valfs) 886040314 MedGen:C2676676,OMIM:604370 17 43094801 43094802 - TACTGGGTTGATGATGTTCAGTATTTGTTAC 261984 single nucleotide variant NM_007294.3(BRCA1):c.718C>T (p.Gln240Ter) 886040313 MedGen:C2676676,OMIM:604370 17 43094813 43094813 G A 261984 single nucleotide variant NM_007294.3(BRCA1):c.718C>T (p.Gln240Ter) 886040313 MedGen:C2676676,OMIM:604370 17 41246830 41246830 G A 261985 deletion NM_007294.3(BRCA1):c.707delC (p.Thr236Metfs) 886040311 MedGen:C2676676,OMIM:604370 17 43094824 43094824 G - 261985 deletion NM_007294.3(BRCA1):c.707delC (p.Thr236Metfs) 886040311 MedGen:C2676676,OMIM:604370 17 41246841 41246841 G - 261986 deletion NM_007294.3(BRCA1):c.704delA (p.Asn235Ilefs) 886040310 MedGen:C2676676,OMIM:604370 17 43094827 43094827 T - 261986 deletion NM_007294.3(BRCA1):c.704delA (p.Asn235Ilefs) 886040310 MedGen:C2676676,OMIM:604370 17 41246844 41246844 T - 261987 deletion NM_007294.3(BRCA1):c.689_692delAGAC (p.Glu230Glyfs) 886040308 MedGen:C2676676,OMIM:604370 17 43094839 43094842 GTCT - 261987 deletion NM_007294.3(BRCA1):c.689_692delAGAC (p.Glu230Glyfs) 886040308 MedGen:C2676676,OMIM:604370 17 41246856 41246859 GTCT - 261988 deletion NM_007294.3(BRCA1):c.531delT (p.Val178Serfs) 886040290 MedGen:C2676676,OMIM:604370 17 43099791 43099791 A - 261988 deletion NM_007294.3(BRCA1):c.531delT (p.Val178Serfs) 886040290 MedGen:C2676676,OMIM:604370 17 41251808 41251808 A - 261989 deletion NM_007294.3(BRCA1):c.518delC (p.Pro173Leufs) 886040276 MedGen:C2676676,OMIM:604370 17 43099804 43099804 G - 261989 deletion NM_007294.3(BRCA1):c.518delC (p.Pro173Leufs) 886040276 MedGen:C2676676,OMIM:604370 17 41251821 41251821 G - 261990 single nucleotide variant NM_007294.3(BRCA1):c.502A>T (p.Lys168Ter) 886040263 MedGen:C2676676,OMIM:604370 17 41251837 41251837 T A 261990 single nucleotide variant NM_007294.3(BRCA1):c.502A>T (p.Lys168Ter) 886040263 MedGen:C2676676,OMIM:604370 17 43099820 43099820 T A 261991 deletion NM_007294.3(BRCA1):c.500_501delCA (p.Thr167Lysfs) 886040258 MedGen:C2676676,OMIM:604370 17 41251838 41251839 TG - 261991 deletion NM_007294.3(BRCA1):c.500_501delCA (p.Thr167Lysfs) 886040258 MedGen:C2676676,OMIM:604370 17 43099821 43099822 TG - 261992 duplication NM_007294.3(BRCA1):c.485_486dupTG (p.Arg163Terfs) 886040250 MedGen:C2676676,OMIM:604370 17 43099836 43099837 CA CACA 261992 duplication NM_007294.3(BRCA1):c.485_486dupTG (p.Arg163Terfs) 886040250 MedGen:C2676676,OMIM:604370 17 41251853 41251854 CA CACA 261993 duplication NM_007294.3(BRCA1):c.431dupA (p.Asn144Lysfs) 886040224 MedGen:C2676676,OMIM:604370 17 43104132 43104132 T TT 261993 duplication NM_007294.3(BRCA1):c.431dupA (p.Asn144Lysfs) 886040224 MedGen:C2676676,OMIM:604370 17 41256149 41256149 T TT 261994 duplication NM_007294.3(BRCA1):c.418dupA (p.Ser140Lysfs) 886040212 MedGen:C2676676,OMIM:604370 17 41256162 41256162 T TT 261994 duplication NM_007294.3(BRCA1):c.418dupA (p.Ser140Lysfs) 886040212 MedGen:C2676676,OMIM:604370 17 43104145 43104145 T TT 261995 deletion NM_007294.3(BRCA1):c.411_414delTCTA (p.Leu138Argfs) 886040203 MedGen:C2676676,OMIM:604370 17 41256166 41256169 TAGA - 261995 deletion NM_007294.3(BRCA1):c.411_414delTCTA (p.Leu138Argfs) 886040203 MedGen:C2676676,OMIM:604370 17 43104149 43104152 TAGA - 261996 deletion NM_007294.3(BRCA1):c.411delT (p.Leu138Tyrfs) 886040205 MedGen:C2676676,OMIM:604370 17 41256169 41256169 A - 261996 deletion NM_007294.3(BRCA1):c.411delT (p.Leu138Tyrfs) 886040205 MedGen:C2676676,OMIM:604370 17 43104152 43104152 A - 261997 deletion NM_007294.3(BRCA1):c.407delG (p.Arg136Asnfs) 886040200 MedGen:C2676676,OMIM:604370 17 41256173 41256173 C - 261997 deletion NM_007294.3(BRCA1):c.407delG (p.Arg136Asnfs) 886040200 MedGen:C2676676,OMIM:604370 17 43104156 43104156 C - 261998 deletion NM_007294.3(BRCA1):c.406delA (p.Arg136Aspfs) 886040196 MedGen:C2676676,OMIM:604370 17 43104157 43104157 T - 261998 deletion NM_007294.3(BRCA1):c.406delA (p.Arg136Aspfs) 886040196 MedGen:C2676676,OMIM:604370 17 41256174 41256174 T - 261999 indel NM_007294.3(BRCA1):c.385_386delGGinsC (p.Gly129Profs) 886040171 MedGen:C2676676,OMIM:604370 17 43104177 43104178 CC G 261999 indel NM_007294.3(BRCA1):c.385_386delGGinsC (p.Gly129Profs) 886040171 MedGen:C2676676,OMIM:604370 17 41256194 41256195 CC G 262000 deletion NM_007294.3(BRCA1):c.372delC (p.Ile125Serfs) 886040160 MedGen:C2676676,OMIM:604370 17 41256208 41256208 G - 262000 deletion NM_007294.3(BRCA1):c.372delC (p.Ile125Serfs) 886040160 MedGen:C2676676,OMIM:604370 17 43104191 43104191 G - 262001 deletion NM_007294.3(BRCA1):c.363_364delAG (p.Glu121Aspfs) 886040155 MedGen:C2676676,OMIM:604370 17 41256216 41256217 CT - 262001 deletion NM_007294.3(BRCA1):c.363_364delAG (p.Glu121Aspfs) 886040155 MedGen:C2676676,OMIM:604370 17 43104199 43104200 CT - 262002 duplication NM_007294.3(BRCA1):c.361dupG (p.Glu121Glyfs) 886040152 MedGen:C2676676,OMIM:604370 17 41256219 41256219 C CC 262002 duplication NM_007294.3(BRCA1):c.361dupG (p.Glu121Glyfs) 886040152 MedGen:C2676676,OMIM:604370 17 43104202 43104202 C CC 262003 indel NM_007294.3(BRCA1):c.357_358delAGinsT (p.Lys119Asnfs) 886040144 MedGen:C2676676,OMIM:604370 17 41256222 41256223 CT A 262003 indel NM_007294.3(BRCA1):c.357_358delAGinsT (p.Lys119Asnfs) 886040144 MedGen:C2676676,OMIM:604370 17 43104205 43104206 CT A 262004 single nucleotide variant NM_007294.3(BRCA1):c.355A>T (p.Lys119Ter) 886040142 MedGen:C2676676,OMIM:604370 17 41256225 41256225 T A 262004 single nucleotide variant NM_007294.3(BRCA1):c.355A>T (p.Lys119Ter) 886040142 MedGen:C2676676,OMIM:604370 17 43104208 43104208 T A 262005 deletion NM_007294.3(BRCA1):c.342delT (p.Pro115Leufs) 886040129 MedGen:C2676676,OMIM:604370 17 41256238 41256238 A - 262005 deletion NM_007294.3(BRCA1):c.342delT (p.Pro115Leufs) 886040129 MedGen:C2676676,OMIM:604370 17 43104221 43104221 A - 262006 deletion NM_007294.3(BRCA1):c.335delA (p.Asn112Ilefs) 886040119 MedGen:C2676676,OMIM:604370 17 41256245 41256245 T - 262006 deletion NM_007294.3(BRCA1):c.335delA (p.Asn112Ilefs) 886040119 MedGen:C2676676,OMIM:604370 17 43104228 43104228 T - 262007 insertion NM_007294.3(BRCA1):c.330_331insA (p.Glu111Argfs) 886040112 MedGen:C2676676,OMIM:604370 17 41256249 41256250 - T 262007 insertion NM_007294.3(BRCA1):c.330_331insA (p.Glu111Argfs) 886040112 MedGen:C2676676,OMIM:604370 17 43104232 43104233 - T 262008 deletion NM_007294.3(BRCA1):c.331delG (p.Glu111Lysfs) 886040114 MedGen:C2676676,OMIM:604370 17 43104232 43104232 C - 262008 deletion NM_007294.3(BRCA1):c.331delG (p.Glu111Lysfs) 886040114 MedGen:C2676676,OMIM:604370 17 41256249 41256249 C - 262009 deletion NM_007294.3(BRCA1):c.310delA (p.Ser104Alafs) 886040097 MedGen:C2676676,OMIM:604370 17 43104253 43104253 T - 262009 deletion NM_007294.3(BRCA1):c.310delA (p.Ser104Alafs) 886040097 MedGen:C2676676,OMIM:604370 17 41256270 41256270 T - 262010 single nucleotide variant NM_007294.3(BRCA1):c.303T>A (p.Tyr101Ter) 80356936 MedGen:C2676676,OMIM:604370 17 41256277 41256277 A T 262010 single nucleotide variant NM_007294.3(BRCA1):c.303T>A (p.Tyr101Ter) 80356936 MedGen:C2676676,OMIM:604370 17 43104260 43104260 A T 262011 single nucleotide variant NM_007294.3(BRCA1):c.260T>A (p.Leu87Ter) 886040054 MedGen:C2676676,OMIM:604370 17 41256926 41256926 A T 262011 single nucleotide variant NM_007294.3(BRCA1):c.260T>A (p.Leu87Ter) 886040054 MedGen:C2676676,OMIM:604370 17 43104909 43104909 A T 262012 deletion NM_007294.3(BRCA1):c.246delT (p.Val83Leufs) 886040039 MedGen:C2676676,OMIM:604370 17 41256940 41256940 A - 262012 deletion NM_007294.3(BRCA1):c.246delT (p.Val83Leufs) 886040039 MedGen:C2676676,OMIM:604370 17 43104923 43104923 A - 262013 indel NM_007294.3(BRCA1):c.239_241delGTCinsTT (p.Ser80Ilefs) 886040032 MedGen:C2676676,OMIM:604370 17 41256945 41256947 GAC AA 262013 indel NM_007294.3(BRCA1):c.239_241delGTCinsTT (p.Ser80Ilefs) 886040032 MedGen:C2676676,OMIM:604370 17 43104928 43104930 GAC AA 262014 deletion NM_007294.3(BRCA1):c.237delT (p.Phe79Leufs) 886040030 MedGen:C2676676,OMIM:604370 17 41256949 41256949 A - 262014 deletion NM_007294.3(BRCA1):c.237delT (p.Phe79Leufs) 886040030 MedGen:C2676676,OMIM:604370 17 43104932 43104932 A - 262015 deletion NM_007294.3(BRCA1):c.190_211del22 (p.Cys64Glyfs) 886039978 MedGen:C2676676,OMIM:604370 17 41258474 41258495 na na 262015 deletion NM_007294.3(BRCA1):c.190_211del22 (p.Cys64Glyfs) 886039978 MedGen:C2676676,OMIM:604370 17 43106457 43106478 na na 262016 duplication NM_007294.3(BRCA1):c.202dupA (p.Ile68Asnfs) 886039990 MedGen:C2676676,OMIM:604370 17 41258483 41258483 T TT 262016 duplication NM_007294.3(BRCA1):c.202dupA (p.Ile68Asnfs) 886039990 MedGen:C2676676,OMIM:604370 17 43106466 43106466 T TT 262017 insertion NM_007294.3(BRCA1):c.182_183insGCGC (p.Cys61Trpfs) 886039971 MedGen:C2676676,OMIM:604370 17 41258502 41258503 - GCGC 262017 insertion NM_007294.3(BRCA1):c.182_183insGCGC (p.Cys61Trpfs) 886039971 MedGen:C2676676,OMIM:604370 17 43106485 43106486 - GCGC 262018 duplication NM_007294.3(BRCA1):c.179dupA (p.Cys61Valfs) 886039969 MedGen:C2676676,OMIM:604370 17 41258506 41258506 T TT 262018 duplication NM_007294.3(BRCA1):c.179dupA (p.Cys61Valfs) 886039969 MedGen:C2676676,OMIM:604370 17 43106489 43106489 T TT 262019 single nucleotide variant NM_007294.3(BRCA1):c.176C>A (p.Ser59Ter) 199522616 MedGen:C2676676,OMIM:604370 17 43106492 43106492 G T 262019 single nucleotide variant NM_007294.3(BRCA1):c.176C>A (p.Ser59Ter) 199522616 MedGen:C2676676,OMIM:604370 17 41258509 41258509 G T 262020 duplication NM_007294.3(BRCA1):c.171dupG (p.Pro58Alafs) 886039964 MedGen:C2676676,OMIM:604370 17 41258514 41258514 C CC 262020 duplication NM_007294.3(BRCA1):c.171dupG (p.Pro58Alafs) 886039964 MedGen:C2676676,OMIM:604370 17 43106497 43106497 C CC 262021 insertion NM_007294.3(BRCA1):c.140_141insT (p.Met48Hisfs) 886039950 MedGen:C2676676,OMIM:604370 17 41258544 41258545 - A 262021 insertion NM_007294.3(BRCA1):c.140_141insT (p.Met48Hisfs) 886039950 MedGen:C2676676,OMIM:604370 17 43106527 43106528 - A 262022 deletion NM_007294.3(BRCA1):c.101_105delCTGTC (p.Pro34Leufs) 886039920 MedGen:C2676676,OMIM:604370 17 41267772 41267776 GACAG - 262022 deletion NM_007294.3(BRCA1):c.101_105delCTGTC (p.Pro34Leufs) 886039920 MedGen:C2676676,OMIM:604370 17 43115755 43115759 GACAG - 262023 deletion NM_007294.3(BRCA1):c.98_105delAACCTGTC (p.Glu33Valfs) 886040338 MedGen:C2676676,OMIM:604370 17 41267772 41267779 GACAGGTT - 262023 deletion NM_007294.3(BRCA1):c.98_105delAACCTGTC (p.Glu33Valfs) 886040338 MedGen:C2676676,OMIM:604370 17 43115755 43115762 GACAGGTT - 262024 deletion NM_007294.3(BRCA1):c.102delT (p.Val35Serfs) 886039922 MedGen:C2676676,OMIM:604370 17 43115758 43115758 A - 262024 deletion NM_007294.3(BRCA1):c.102delT (p.Val35Serfs) 886039922 MedGen:C2676676,OMIM:604370 17 41267775 41267775 A - 262025 deletion NM_007294.3(BRCA1):c.93delC (p.Lys32Argfs) 886040332 MedGen:C2676676,OMIM:604370 17 43115767 43115767 G - 262025 deletion NM_007294.3(BRCA1):c.93delC (p.Lys32Argfs) 886040332 MedGen:C2676676,OMIM:604370 17 41267784 41267784 G - 262026 deletion NM_007294.3(BRCA1):c.71_72delGT (p.Cys24Serfs) 886040312 MedGen:C2676676,OMIM:604370 17 43124025 43124026 AC - 262026 deletion NM_007294.3(BRCA1):c.71_72delGT (p.Cys24Serfs) 886040312 MedGen:C2676676,OMIM:604370 17 41276042 41276043 AC - 262027 duplication NM_007294.3(BRCA1):c.69dupG (p.Cys24Valfs) 80357914 MedGen:C2676676,OMIM:604370 17 43124028 43124028 C CC 262027 duplication NM_007294.3(BRCA1):c.69dupG (p.Cys24Valfs) 80357914 MedGen:C2676676,OMIM:604370 17 41276045 41276045 C CC 262028 deletion NM_007294.3(BRCA1):c.68delA (p.Glu23Glyfs) 886040309 MedGen:C2676676,OMIM:604370 17 41276046 41276046 T - 262028 deletion NM_007294.3(BRCA1):c.68delA (p.Glu23Glyfs) 886040309 MedGen:C2676676,OMIM:604370 17 43124029 43124029 T - 262029 deletion NM_007294.3(BRCA1):c.62_65delTCTT (p.Ile21Lysfs) 886040307 MedGen:C2676676,OMIM:604370 17 41276049 41276052 AAGA - 262029 deletion NM_007294.3(BRCA1):c.62_65delTCTT (p.Ile21Lysfs) 886040307 MedGen:C2676676,OMIM:604370 17 43124032 43124035 AAGA - 262030 deletion NM_007294.3(BRCA1):c.22_50del29 (p.Val8Tyrfs) 886040013 MedGen:C2676676,OMIM:604370 17 41276064 41276092 na na 262030 deletion NM_007294.3(BRCA1):c.22_50del29 (p.Val8Tyrfs) 886040013 MedGen:C2676676,OMIM:604370 17 43124047 43124075 na na 262031 deletion NM_007294.3(BRCA1):c.40_41delGT (p.Val14Hisfs) 886040186 MedGen:C2676676,OMIM:604370 17 41276073 41276074 AC - 262031 deletion NM_007294.3(BRCA1):c.40_41delGT (p.Val14Hisfs) 886040186 MedGen:C2676676,OMIM:604370 17 43124056 43124057 AC - 262032 deletion NM_007294.3(BRCA1):c.40delG (p.Val14Serfs) 886040201 MedGen:C2676676,OMIM:604370 17 41276074 41276074 C - 262032 deletion NM_007294.3(BRCA1):c.40delG (p.Val14Serfs) 886040201 MedGen:C2676676,OMIM:604370 17 43124057 43124057 C - 262033 deletion NM_007294.3(BRCA1):c.36_39delAAAT (p.Asn13Serfs) 886040149 MedGen:C2676676,OMIM:604370 17 43124058 43124061 ATTT - 262033 deletion NM_007294.3(BRCA1):c.36_39delAAAT (p.Asn13Serfs) 886040149 MedGen:C2676676,OMIM:604370 17 41276075 41276078 ATTT - 262099 deletion NM_007294.3(BRCA1):c.5407_5414delGGTGTCCA (p.Gly1803Profs) 886040865 MedGen:C0677776,Orphanet:ORPHA145 17 41199713 41199720 TGGACACC - 262099 deletion NM_007294.3(BRCA1):c.5407_5414delGGTGTCCA (p.Gly1803Profs) 886040865 MedGen:C0677776,Orphanet:ORPHA145 17 43047696 43047703 TGGACACC - 262100 single nucleotide variant NM_007294.3(BRCA1):c.5116G>C (p.Gly1706Arg) 886040864 MedGen:C0677776,Orphanet:ORPHA145 17 43063910 43063910 C G 262100 single nucleotide variant NM_007294.3(BRCA1):c.5116G>C (p.Gly1706Arg) 886040864 MedGen:C0677776,Orphanet:ORPHA145 17 41215927 41215927 C G 262101 single nucleotide variant NM_007294.3(BRCA1):c.5116G>A (p.Gly1706Arg) 886040864 MedGen:C0677776,Orphanet:ORPHA145 17 43063910 43063910 C T 262101 single nucleotide variant NM_007294.3(BRCA1):c.5116G>A (p.Gly1706Arg) 886040864 MedGen:C0677776,Orphanet:ORPHA145 17 41215927 41215927 C T 262102 single nucleotide variant NM_007294.3(BRCA1):c.4820T>C (p.Val1607Ala) 886040863 MedGen:C0677776,Orphanet:ORPHA145 17 43071094 43071094 A G 262102 single nucleotide variant NM_007294.3(BRCA1):c.4820T>C (p.Val1607Ala) 886040863 MedGen:C0677776,Orphanet:ORPHA145 17 41223111 41223111 A G 262103 deletion NM_007300.3:c.4358_4484del -1 MedGen:C0677776,Orphanet:ORPHA145 17 43076551 43079399 na na 262104 deletion NM_007294.3(BRCA1):c.442-43_524del -1 MedGen:C0677776,Orphanet:ORPHA145 17 43099798 43099923 na na 262104 deletion NM_007294.3(BRCA1):c.442-43_524del -1 MedGen:C0677776,Orphanet:ORPHA145 17 41251815 41251940 na na 262105 single nucleotide variant NM_007294.3(BRCA1):c.242A>T (p.Gln81Leu) 886040862 MedGen:C0677776,Orphanet:ORPHA145 17 41256944 41256944 T A 262105 single nucleotide variant NM_007294.3(BRCA1):c.242A>T (p.Gln81Leu) 886040862 MedGen:C0677776,Orphanet:ORPHA145 17 43104927 43104927 T A 262864 deletion NM_007294.3(BRCA1):c.5407-?_5467+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262865 duplication NM_007294.3(BRCA1):c.5407-?_5467+?dup -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262866 duplication NM_007294.3(BRCA1):c.5278-?_5467+?dup -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262867 deletion NM_007294.3(BRCA1):c.4676-?_5467+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262868 deletion NM_007294.3(BRCA1):c.442-?_5467+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262869 deletion NM_007294.3(BRCA1):c.5278-?_5406+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262870 duplication NM_007294.3(BRCA1):c.5278-?_5406+?dup -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262871 deletion NM_007294.3(BRCA1):c.5278-?_5332+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262872 indel NM_007294.3(BRCA1):c.5194-?_5277+?delinsG -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262873 duplication NM_007294.3(BRCA1):c.5194-?_5277+?dup -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262874 deletion NM_007294.3(BRCA1):c.5075-?_5277+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262875 deletion NM_007294.3(BRCA1):c.4987-?_5277+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262876 deletion NM_007294.3(BRCA1):c.4186-?_5277+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262877 duplication NM_007294.3(BRCA1):c.442-?_5277+?dup -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262878 deletion NM_007294.3(BRCA1):c.5153-?_5193+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262879 deletion NM_007294.3(BRCA1):c.5075-?_5193+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262880 duplication NM_007294.3(BRCA1):c.5075-?_5193+?dup -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262881 deletion NM_007294.3(BRCA1):c.4676-?_5193+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262882 deletion NM_007294.3(BRCA1):c.4358-?_5193+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262883 deletion NM_007294.3(BRCA1):c.81-?_5193+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262884 deletion NM_007294.3(BRCA1):c.5075-?_5152+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262885 deletion NM_007294.3(BRCA1):c.4987-?_5152+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262886 duplication NM_007294.3(BRCA1):c.81-?_5152+?dup -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262887 deletion NM_007294.3(BRCA1):c.4485-?_5074+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262888 deletion NM_007294.3(BRCA1):c.4358-?_5074+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262889 deletion NM_007294.3(BRCA1):c.4676-?_4986+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262890 deletion NM_007294.3(BRCA1):c.4358-?_4986+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262891 duplication NM_007294.3(BRCA1):c.4358-?_4986+?dup -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262892 duplication NM_007294.3(BRCA1):c.4485-?_4675+?dup -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262893 deletion NM_007294.3(BRCA1):c.671-?_4675+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262894 duplication NM_007294.3(BRCA1):c.4358-?_4484+?dup -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262895 deletion NM_007294.3(BRCA1):c.4186-?_4484+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262896 deletion NM_007294.3(BRCA1):c.671-?_4484+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262897 deletion NM_007294.3(BRCA1):c.594-?_4484+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262898 deletion NM_007294.3(BRCA1):c.135-?_4484+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262899 deletion NM_007294.3(BRCA1):c.4186-?_4357+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262900 deletion NM_007294.3(BRCA1):c.671-?_4185+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262901 deletion NM_007294.3(BRCA1):c.442-?_4185+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262902 deletion NM_007294.3(BRCA1):c.135-?_4185+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262903 deletion NM_007294.3(BRCA1):c.81-?_4185+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262904 deletion NM_007294.3(BRCA1):c.442-?_670+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262905 deletion NM_007294.3(BRCA1):c.135-?_670+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262906 deletion NM_007294.3(BRCA1):c.302-?_593+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262907 duplication NM_007294.3(BRCA1):c.442-?_547+?dup -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262908 deletion NM_007294.3(BRCA1):c.135-?_547+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262909 duplication NM_007294.3(BRCA1):c.135-?_547+?dup -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262910 duplication NM_007294.3(BRCA1):c.81-?_547+?dup -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262911 deletion NM_007294.3(BRCA1):c.213-?_441+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262912 deletion NM_007294.3(BRCA1):c.81-?_441+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262913 deletion NM_007294.3(BRCA1):c.135-?_301+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262914 deletion NM_007294.3(BRCA1):c.135-?_212+?del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262915 duplication NM_007294.3(BRCA1):c.81-?_134+?dup -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 262916 duplication NM_007294.3(BRCA1):c.5468-11_5520dup -1 MedGen:C2676676,OMIM:604370 17 41197767 41197830 na na 262916 duplication NM_007294.3(BRCA1):c.5468-11_5520dup -1 MedGen:C2676676,OMIM:604370 17 43045750 43045813 na na 262917 single nucleotide variant NM_007294.3(BRCA1):c.5468-2A>T 398122699 MedGen:C2676676,OMIM:604370 17 41197821 41197821 T A 262917 single nucleotide variant NM_007294.3(BRCA1):c.5468-2A>T 398122699 MedGen:C2676676,OMIM:604370 17 43045804 43045804 T A 262918 deletion NM_007294.3(BRCA1):c.5467+1del 886040918 MedGen:C2676676,OMIM:604370 17 43047642 43047642 C - 262918 deletion NM_007294.3(BRCA1):c.5467+1del 886040918 MedGen:C2676676,OMIM:604370 17 41199659 41199659 C - 262919 deletion NM_007294.3(BRCA1):c.5333-36_5406+400del -1 MedGen:C2676676,OMIM:604370 17 41200738 41201247 na na 262919 deletion NM_007294.3(BRCA1):c.5333-36_5406+400del -1 MedGen:C2676676,OMIM:604370 17 43048721 43049230 na na 262920 deletion NM_007294.3(BRCA1):c.5333-198_5387del -1 MedGen:C2676676,OMIM:604370 17 43049140 43049392 na na 262920 deletion NM_007294.3(BRCA1):c.5333-198_5387del -1 MedGen:C2676676,OMIM:604370 17 41201157 41201409 na na 262921 single nucleotide variant NM_007294.3(BRCA1):c.5333-1G>T 80358126 MedGen:C2676676,OMIM:604370 17 41201212 41201212 C A 262921 single nucleotide variant NM_007294.3(BRCA1):c.5333-1G>T 80358126 MedGen:C2676676,OMIM:604370 17 43049195 43049195 C A 262922 indel NM_007294.3(BRCA1):c.5331_5332+6delinsCAACAT 886040917 MedGen:C2676676,OMIM:604370 17 41203074 41203081 TCTTACCT ATGTTG 262922 indel NM_007294.3(BRCA1):c.5331_5332+6delinsCAACAT 886040917 MedGen:C2676676,OMIM:604370 17 43051057 43051064 TCTTACCT ATGTTG 262923 single nucleotide variant NM_007294.3(BRCA1):c.5332+2T>C 80358182 MedGen:C2676676,OMIM:604370 17 43051061 43051061 A G 262923 single nucleotide variant NM_007294.3(BRCA1):c.5332+2T>C 80358182 MedGen:C2676676,OMIM:604370 17 41203078 41203078 A G 262924 single nucleotide variant NM_007294.3(BRCA1):c.5332+1G>T 80358041 MedGen:C2676676,OMIM:604370 17 43051062 43051062 C A 262924 single nucleotide variant NM_007294.3(BRCA1):c.5332+1G>T 80358041 MedGen:C2676676,OMIM:604370 17 41203079 41203079 C A 262925 deletion NM_007294.3(BRCA1):c.5311_5332+1del 886040916 MedGen:C2676676,OMIM:604370 17 43051062 43051084 na na 262925 deletion NM_007294.3(BRCA1):c.5311_5332+1del 886040916 MedGen:C2676676,OMIM:604370 17 41203079 41203101 na na 262926 single nucleotide variant NM_007294.3(BRCA1):c.5297T>A (p.Ile1766Asn) 80357463 MedGen:C2676676,OMIM:604370 17 41203115 41203115 A T 262926 single nucleotide variant NM_007294.3(BRCA1):c.5297T>A (p.Ile1766Asn) 80357463 MedGen:C2676676,OMIM:604370 17 43051098 43051098 A T 262927 single nucleotide variant NM_007294.3(BRCA1):c.5278-2A>G 397509253 MedGen:C2676676,OMIM:604370 17 41203136 41203136 T C 262927 single nucleotide variant NM_007294.3(BRCA1):c.5278-2A>G 397509253 MedGen:C2676676,OMIM:604370 17 43051119 43051119 T C 262928 deletion NM_007294.3(BRCA1):c.5194-452_5277+3638del -1 MedGen:C2676676,OMIM:604370 17 43053414 43057587 na na 262928 deletion NM_007294.3(BRCA1):c.5194-452_5277+3638del -1 MedGen:C2676676,OMIM:604370 17 41205431 41209604 na na 262929 indel NM_007294.3(BRCA1):c.5277+2916_5277+2946delinsGG 886040897 MedGen:C2676676,OMIM:604370 17 41206123 41206153 na CC 262929 indel NM_007294.3(BRCA1):c.5277+2916_5277+2946delinsGG 886040897 MedGen:C2676676,OMIM:604370 17 43054106 43054136 na CC 262930 deletion NM_007294.3(BRCA1):c.5243_5277+2788del -1 MedGen:C2676676,OMIM:604370 17 41206281 41209103 na na 262930 deletion NM_007294.3(BRCA1):c.5243_5277+2788del -1 MedGen:C2676676,OMIM:604370 17 43054264 43057086 na na 262931 deletion NM_007294.3(BRCA1):c.5194-5858_5277+2206del -1 MedGen:C2676676,OMIM:604370 17 41206863 41215010 na na 262931 deletion NM_007294.3(BRCA1):c.5194-5858_5277+2206del -1 MedGen:C2676676,OMIM:604370 17 43054846 43062993 na na 262932 indel NM_007294.3(BRCA1):c.5194-1699_5277+1996delins236 -1 MedGen:C2676676,OMIM:604370 17 41207073 41210851 na na 262932 indel NM_007294.3(BRCA1):c.5194-1699_5277+1996delins236 -1 MedGen:C2676676,OMIM:604370 17 43055056 43058834 na na 262933 indel NM_007294.3(BRCA1):c.5194-1730_5277+1996delins268 -1 MedGen:C2676676,OMIM:604370 17 43055056 43058865 na na 262933 indel NM_007294.3(BRCA1):c.5194-1730_5277+1996delins268 -1 MedGen:C2676676,OMIM:604370 17 41207073 41210882 na na 262934 indel NM_007294.3(BRCA1):c.5277+833_5277+1671delins141 -1 MedGen:C2676676,OMIM:604370 17 43055381 43056219 na na 262934 indel NM_007294.3(BRCA1):c.5277+833_5277+1671delins141 -1 MedGen:C2676676,OMIM:604370 17 41207398 41208236 na na 262935 single nucleotide variant NM_007294.3(BRCA1):c.5194-1G>T 80358173 MedGen:C2676676,OMIM:604370 17 43057136 43057136 C A 262935 single nucleotide variant NM_007294.3(BRCA1):c.5194-1G>T 80358173 MedGen:C2676676,OMIM:604370 17 41209153 41209153 C A 262936 single nucleotide variant NM_007294.3(BRCA1):c.5194-1G>C 80358173 MedGen:C2676676,OMIM:604370 17 43057136 43057136 C G 262936 single nucleotide variant NM_007294.3(BRCA1):c.5194-1G>C 80358173 MedGen:C2676676,OMIM:604370 17 41209153 41209153 C G 262937 single nucleotide variant NM_007294.3(BRCA1):c.5193+2T>G 886040915 MedGen:C2676676,OMIM:604370 17 43063331 43063331 A C 262937 single nucleotide variant NM_007294.3(BRCA1):c.5193+2T>G 886040915 MedGen:C2676676,OMIM:604370 17 41215348 41215348 A C 262938 single nucleotide variant NM_007294.3(BRCA1):c.5152+2T>A 886040914 MedGen:C2676676,OMIM:604370 17 41215889 41215889 A T 262938 single nucleotide variant NM_007294.3(BRCA1):c.5152+2T>A 886040914 MedGen:C2676676,OMIM:604370 17 43063872 43063872 A T 262939 indel NM_007294.3(BRCA1):c.5077_5080delGCTGinsTTGATTCTGC (p.Ala1693_Glu1694delinsLeuIleLeuGln) 397509224 MedGen:C2676676,OMIM:604370 17 43063946 43063949 CAGC GCAGAATCAA 262939 indel NM_007294.3(BRCA1):c.5077_5080delGCTGinsTTGATTCTGC (p.Ala1693_Glu1694delinsLeuIleLeuGln) 397509224 MedGen:C2676676,OMIM:604370 17 41215963 41215966 CAGC GCAGAATCAA 262940 deletion NM_007294.3(BRCA1):c.5075-2del 886040913 MedGen:C2676676,OMIM:604370 17 43063953 43063953 T - 262940 deletion NM_007294.3(BRCA1):c.5075-2del 886040913 MedGen:C2676676,OMIM:604370 17 41215970 41215970 T - 262941 deletion NM_007294.3(BRCA1):c.4987-2341_5074+2676del -1 MedGen:C2676676,OMIM:604370 17 43064932 43070036 na na 262941 deletion NM_007294.3(BRCA1):c.4987-2341_5074+2676del -1 MedGen:C2676676,OMIM:604370 17 41216949 41222053 na na 262942 deletion NM_007294.3(BRCA1):c.4987-2508_5074+84del -1 MedGen:C2676676,OMIM:604370 17 41219541 41222220 na na 262942 deletion NM_007294.3(BRCA1):c.4987-2508_5074+84del -1 MedGen:C2676676,OMIM:604370 17 43067524 43070203 na na 262943 single nucleotide variant NM_007294.3(BRCA1):c.5074+1G>C 80358053 MedGen:C2676676,OMIM:604370 17 43067607 43067607 C G 262943 single nucleotide variant NM_007294.3(BRCA1):c.5074+1G>C 80358053 MedGen:C2676676,OMIM:604370 17 41219624 41219624 C G 262944 deletion NM_007294.3(BRCA1):c.4987delA (p.Met1663Cysfs) 886040912 MedGen:C2676676,OMIM:604370 17 43067695 43067695 T - 262944 deletion NM_007294.3(BRCA1):c.4987delA (p.Met1663Cysfs) 886040912 MedGen:C2676676,OMIM:604370 17 41219712 41219712 T - 262945 single nucleotide variant NM_007294.3(BRCA1):c.4987-1G>T 730881495 MedGen:C2676676,OMIM:604370 17 43067696 43067696 C A 262945 single nucleotide variant NM_007294.3(BRCA1):c.4987-1G>T 730881495 MedGen:C2676676,OMIM:604370 17 41219713 41219713 C A 262946 single nucleotide variant NM_007294.3(BRCA1):c.4987-5T>C 397509214 MedGen:C2676676,OMIM:604370 17 43067700 43067700 A G 262946 single nucleotide variant NM_007294.3(BRCA1):c.4987-5T>C 397509214 MedGen:C2676676,OMIM:604370 17 41219717 41219717 A G 262947 deletion NM_007294.3(BRCA1):c.4676-1420_4986+900del -1 MedGen:C2676676,OMIM:604370 17 43070028 43072658 na na 262947 deletion NM_007294.3(BRCA1):c.4676-1420_4986+900del -1 MedGen:C2676676,OMIM:604370 17 41222045 41224675 na na 262948 single nucleotide variant NM_007294.3(BRCA1):c.4986+5G>C 397509211 MedGen:C2676676,OMIM:604370 17 41222940 41222940 C G 262948 single nucleotide variant NM_007294.3(BRCA1):c.4986+5G>C 397509211 MedGen:C2676676,OMIM:604370 17 43070923 43070923 C G 262949 insertion NM_007294.3(BRCA1):c.4986+1_4986+2ins65 -1 MedGen:C2676676,OMIM:604370 17 41222943 41222944 na na 262949 insertion NM_007294.3(BRCA1):c.4986+1_4986+2ins65 -1 MedGen:C2676676,OMIM:604370 17 43070926 43070927 na na 262950 single nucleotide variant NM_007294.3(BRCA1):c.4676-1G>T 80358008 MedGen:C2676676,OMIM:604370 17 41223256 41223256 C A 262950 single nucleotide variant NM_007294.3(BRCA1):c.4676-1G>T 80358008 MedGen:C2676676,OMIM:604370 17 43071239 43071239 C A 262951 single nucleotide variant NM_007294.3(BRCA1):c.4675+2T>C 879255293 MedGen:C2676676,OMIM:604370 17 41226346 41226346 A G 262951 single nucleotide variant NM_007294.3(BRCA1):c.4675+2T>C 879255293 MedGen:C2676676,OMIM:604370 17 43074329 43074329 A G 262952 single nucleotide variant NM_007294.3(BRCA1):c.4675+2T>A 879255293 MedGen:C2676676,OMIM:604370 17 41226346 41226346 A T 262952 single nucleotide variant NM_007294.3(BRCA1):c.4675+2T>A 879255293 MedGen:C2676676,OMIM:604370 17 43074329 43074329 A T 262953 single nucleotide variant NM_007294.3(BRCA1):c.4675+1G>C 80358044 MedGen:C2676676,OMIM:604370 17 43074330 43074330 C G 262953 single nucleotide variant NM_007294.3(BRCA1):c.4675+1G>C 80358044 MedGen:C2676676,OMIM:604370 17 41226347 41226347 C G 262954 deletion NM_007294.3(BRCA1):c.4674delA (p.Glu1559Argfs) 886040911 MedGen:C2676676,OMIM:604370 17 41226349 41226349 T - 262954 deletion NM_007294.3(BRCA1):c.4674delA (p.Glu1559Argfs) 886040911 MedGen:C2676676,OMIM:604370 17 43074332 43074332 T - 262955 single nucleotide variant NM_007294.3(BRCA1):c.4485-1G>C 80358189 MedGen:C2676676,OMIM:604370 17 41226539 41226539 C G 262955 single nucleotide variant NM_007294.3(BRCA1):c.4485-1G>C 80358189 MedGen:C2676676,OMIM:604370 17 43074522 43074522 C G 262956 single nucleotide variant NM_007294.3(BRCA1):c.4484+5G>C 886040910 MedGen:C2676676,OMIM:604370 17 43076483 43076483 C G 262956 single nucleotide variant NM_007294.3(BRCA1):c.4484+5G>C 886040910 MedGen:C2676676,OMIM:604370 17 41228500 41228500 C G 262957 single nucleotide variant NM_007294.3(BRCA1):c.4484+1G>T 80358063 MedGen:C2676676,OMIM:604370 17 43076487 43076487 C A 262957 single nucleotide variant NM_007294.3(BRCA1):c.4484+1G>T 80358063 MedGen:C2676676,OMIM:604370 17 41228504 41228504 C A 262958 duplication NM_007294.3(BRCA1):c.4186-1787_4357+4122dup -1 MedGen:C2676676,OMIM:604370 17 43078282 43084362 na na 262958 duplication NM_007294.3(BRCA1):c.4186-1787_4357+4122dup -1 MedGen:C2676676,OMIM:604370 17 41230299 41236379 na na 262959 deletion NM_007294.3(BRCA1):c.4186-1643_4357+2020del -1 MedGen:C2676676,OMIM:604370 17 43080384 43084218 na na 262959 deletion NM_007294.3(BRCA1):c.4186-1643_4357+2020del -1 MedGen:C2676676,OMIM:604370 17 41232401 41236235 na na 262960 deletion NM_007294.3(BRCA1):c.4186-832_4357+1955del -1 MedGen:C2676676,OMIM:604370 17 43080449 43083407 na na 262960 deletion NM_007294.3(BRCA1):c.4186-832_4357+1955del -1 MedGen:C2676676,OMIM:604370 17 41232466 41235424 na na 262961 deletion NM_007294.3(BRCA1):c.4357+1_4357+10del 886040907 MedGen:C2676676,OMIM:604370 17 41234411 41234420 CAATACACAC - 262961 deletion NM_007294.3(BRCA1):c.4357+1_4357+10del 886040907 MedGen:C2676676,OMIM:604370 17 43082394 43082403 CAATACACAC - 262962 insertion NM_007294.3(BRCA1):c.4281_4282insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC (p.Ser1428_Arg1762delinsTer) 886040896 MedGen:C2676676,OMIM:604370 17 43082479 43082480 - GTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTA 262962 insertion NM_007294.3(BRCA1):c.4281_4282insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC (p.Ser1428_Arg1762delinsTer) 886040896 MedGen:C2676676,OMIM:604370 17 41234496 41234497 - GTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTA 262963 deletion NM_007294.3(BRCA1):c.4097-78_4185+69del -1 MedGen:C2676676,OMIM:604370 17 41242892 41243127 na na 262963 deletion NM_007294.3(BRCA1):c.4097-78_4185+69del -1 MedGen:C2676676,OMIM:604370 17 43090875 43091110 na na 262964 single nucleotide variant NM_007294.3(BRCA1):c.4185+2T>C 431825406 MedGen:C2676676,OMIM:604370 17 41242959 41242959 A G 262964 single nucleotide variant NM_007294.3(BRCA1):c.4185+2T>C 431825406 MedGen:C2676676,OMIM:604370 17 43090942 43090942 A G 262965 insertion NM_007294.3(BRCA1):c.3729_3730insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG (p.His1244Aspfs) 886040895 MedGen:C2676676,OMIM:604370 17 41243818 41243819 - CCTAGTAGACTGAGAAGGTATATTGTTTACTTTACCAAATAACAAGTGTC 262965 insertion NM_007294.3(BRCA1):c.3729_3730insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG (p.His1244Aspfs) 886040895 MedGen:C2676676,OMIM:604370 17 43091801 43091802 - CCTAGTAGACTGAGAAGGTATATTGTTTACTTTACCAAATAACAAGTGTC 262966 indel NM_007294.3(BRCA1):c.3388_3408del21ins16 (p.?) 886040906 MedGen:C2676676,OMIM:604370 17 41244140 41244160 na na 262966 indel NM_007294.3(BRCA1):c.3388_3408del21ins16 (p.?) 886040906 MedGen:C2676676,OMIM:604370 17 43092123 43092143 na na 262967 insertion NM_007294.3(BRCA1):c.3076_3077ins76 (p.?) -1 MedGen:C2676676,OMIM:604370 17 43092454 43092455 na na 262967 insertion NM_007294.3(BRCA1):c.3076_3077ins76 (p.?) -1 MedGen:C2676676,OMIM:604370 17 41244471 41244472 na na 262968 insertion NM_007294.3(BRCA1):c.3075_3076ins76 (p.?) -1 MedGen:C2676676,OMIM:604370 17 41244472 41244473 na na 262968 insertion NM_007294.3(BRCA1):c.3075_3076ins76 (p.?) -1 MedGen:C2676676,OMIM:604370 17 43092455 43092456 na na 262969 insertion NG_005905.2:g.125502_125503ins7 886040905 MedGen:C2676676,OMIM:604370 17 41244498 41244499 na na 262969 insertion NG_005905.2:g.125502_125503ins7 886040905 MedGen:C2676676,OMIM:604370 17 43092481 43092482 na na 262970 indel NG_005905.2:g.125407_125411delCCATCins3 886040904 MedGen:C2676676,OMIM:604370 17 43092573 43092577 na na 262970 indel NG_005905.2:g.125407_125411delCCATCins3 886040904 MedGen:C2676676,OMIM:604370 17 41244590 41244594 na na 262971 deletion NM_007294.3(BRCA1):c.671-26_1781del -1 MedGen:C2676676,OMIM:604370 17 43093750 43094886 na na 262971 deletion NM_007294.3(BRCA1):c.671-26_1781del -1 MedGen:C2676676,OMIM:604370 17 41245767 41246903 na na 262972 indel NG_005905.2:g.124095_124103delATTACTAATins2 886040901 MedGen:C2676676,OMIM:604370 17 43093881 43093889 na na 262972 indel NG_005905.2:g.124095_124103delATTACTAATins2 886040901 MedGen:C2676676,OMIM:604370 17 41245898 41245906 na na 262973 indel NM_007294.3(BRCA1):c.1604_1612delGAACTAACCins13 (p.?) 886040900 MedGen:C2676676,OMIM:604370 17 41245936 41245944 na na 262973 indel NM_007294.3(BRCA1):c.1604_1612delGAACTAACCins13 (p.?) 886040900 MedGen:C2676676,OMIM:604370 17 43093919 43093927 na na 262974 insertion NM_007294.3(BRCA1):c.1393_1394ins10 (p.?) 397508864 MedGen:C2676676,OMIM:604370 17 41246154 41246155 na na 262974 insertion NM_007294.3(BRCA1):c.1393_1394ins10 (p.?) 397508864 MedGen:C2676676,OMIM:604370 17 43094137 43094138 na na 262975 indel NM_007294.3(BRCA1):c.1251_1252delTGinsA (p.Asn417Lysfs) 886040899 MedGen:C2676676,OMIM:604370 17 41246296 41246297 CA T 262975 indel NM_007294.3(BRCA1):c.1251_1252delTGinsA (p.Asn417Lysfs) 886040899 MedGen:C2676676,OMIM:604370 17 43094279 43094280 CA T 262976 deletion NM_007294.3(BRCA1):c.671-215_901del -1 MedGen:C2676676,OMIM:604370 17 41246647 41247092 na na 262976 deletion NM_007294.3(BRCA1):c.671-215_901del -1 MedGen:C2676676,OMIM:604370 17 43094630 43095075 na na 262977 single nucleotide variant NM_007294.3(BRCA1):c.671-2A>T 80358108 MedGen:C2676676,OMIM:604370 17 41246879 41246879 T A 262977 single nucleotide variant NM_007294.3(BRCA1):c.671-2A>T 80358108 MedGen:C2676676,OMIM:604370 17 43094862 43094862 T A 262978 single nucleotide variant NM_007294.3(BRCA1):c.671-2A>G 80358108 MedGen:C2676676,OMIM:604370 17 41246879 41246879 T C 262978 single nucleotide variant NM_007294.3(BRCA1):c.671-2A>G 80358108 MedGen:C2676676,OMIM:604370 17 43094862 43094862 T C 262979 deletion NM_007294.3(BRCA1):c.670+1del 886040922 MedGen:C2676676,OMIM:604370 17 43095845 43095845 C - 262979 deletion NM_007294.3(BRCA1):c.670+1del 886040922 MedGen:C2676676,OMIM:604370 17 41247862 41247862 C - 262980 deletion NM_007294.3(BRCA1):c.640delG (p.Asp214Metfs) 886040921 MedGen:C2676676,OMIM:604370 17 41247893 41247893 C - 262980 deletion NM_007294.3(BRCA1):c.640delG (p.Asp214Metfs) 886040921 MedGen:C2676676,OMIM:604370 17 43095876 43095876 C - 262981 deletion NM_007294.3(BRCA1):c.626delC (p.Pro209Leufs) 886040920 MedGen:C2676676,OMIM:604370 17 43095890 43095890 G - 262981 deletion NM_007294.3(BRCA1):c.626delC (p.Pro209Leufs) 886040920 MedGen:C2676676,OMIM:604370 17 41247907 41247907 G - 262982 deletion NM_007294.3(BRCA1):c.442-1129_547+223del -1 MedGen:C2676676,OMIM:604370 17 41251569 41253026 na na 262982 deletion NM_007294.3(BRCA1):c.442-1129_547+223del -1 MedGen:C2676676,OMIM:604370 17 43099552 43101009 na na 262983 single nucleotide variant NM_007294.3(BRCA1):c.547+3A>T 886040919 MedGen:C2676676,OMIM:604370 17 43099772 43099772 T A 262983 single nucleotide variant NM_007294.3(BRCA1):c.547+3A>T 886040919 MedGen:C2676676,OMIM:604370 17 41251789 41251789 T A 262984 duplication NM_007294.3(BRCA1):c.442-952_547dup -1 MedGen:C2676676,OMIM:604370 17 41251792 41252849 na na 262984 duplication NM_007294.3(BRCA1):c.442-952_547dup -1 MedGen:C2676676,OMIM:604370 17 43099775 43100832 na na 262985 single nucleotide variant NM_007294.3(BRCA1):c.442-7T>A 886040909 MedGen:C2676676,OMIM:604370 17 41251904 41251904 A T 262985 single nucleotide variant NM_007294.3(BRCA1):c.442-7T>A 886040909 MedGen:C2676676,OMIM:604370 17 43099887 43099887 A T 262986 insertion NM_007294.3(BRCA1):c.438_439ins25 (p.?) 886040908 MedGen:C2676676,OMIM:604370 17 41256141 41256142 na na 262986 insertion NM_007294.3(BRCA1):c.438_439ins25 (p.?) 886040908 MedGen:C2676676,OMIM:604370 17 43104124 43104125 na na 262987 single nucleotide variant NM_007294.3(BRCA1):c.301+1G>C 587782173 MedGen:C2676676,OMIM:604370 17 41256884 41256884 C G 262987 single nucleotide variant NM_007294.3(BRCA1):c.301+1G>C 587782173 MedGen:C2676676,OMIM:604370 17 43104867 43104867 C G 262988 single nucleotide variant NM_007294.3(BRCA1):c.213-15A>G 886040903 MedGen:C2676676,OMIM:604370 17 41256988 41256988 T C 262988 single nucleotide variant NM_007294.3(BRCA1):c.213-15A>G 886040903 MedGen:C2676676,OMIM:604370 17 43104971 43104971 T C 262989 single nucleotide variant NM_007294.3(BRCA1):c.212G>C (p.Arg71Thr) 80356913 MedGen:C2676676,OMIM:604370 17 41258473 41258473 C G 262989 single nucleotide variant NM_007294.3(BRCA1):c.212G>C (p.Arg71Thr) 80356913 MedGen:C2676676,OMIM:604370 17 43106456 43106456 C G 262990 single nucleotide variant NM_007294.3(BRCA1):c.139T>A (p.Cys47Ser) 80357370 MedGen:C2676676,OMIM:604370 17 43106529 43106529 A T 262990 single nucleotide variant NM_007294.3(BRCA1):c.139T>A (p.Cys47Ser) 80357370 MedGen:C2676676,OMIM:604370 17 41258546 41258546 A T 262991 deletion NM_007294.3(BRCA1):c.81-1588_134+1725del -1 MedGen:C2676676,OMIM:604370 17 41266018 41269384 na na 262991 deletion NM_007294.3(BRCA1):c.81-1588_134+1725del -1 MedGen:C2676676,OMIM:604370 17 43114001 43117367 na na 262992 single nucleotide variant NM_007294.3(BRCA1):c.134+1G>A 80358043 MedGen:C2676676,OMIM:604370 17 41267742 41267742 C T 262992 single nucleotide variant NM_007294.3(BRCA1):c.134+1G>A 80358043 MedGen:C2676676,OMIM:604370 17 43115725 43115725 C T 262993 single nucleotide variant NM_007294.3(BRCA1):c.117T>G (p.Cys39Trp) 886040898 MedGen:C2676676,OMIM:604370 17 41267760 41267760 A C 262993 single nucleotide variant NM_007294.3(BRCA1):c.117T>G (p.Cys39Trp) 886040898 MedGen:C2676676,OMIM:604370 17 43115743 43115743 A C 262994 indel NM_007294.3(BRCA1):c.-7620_80+468delins8 -1 MedGen:C2676676,OMIM:604370 17 41275566 41284888 na na 262994 indel NM_007294.3(BRCA1):c.-7620_80+468delins8 -1 MedGen:C2676676,OMIM:604370 17 43123549 43132871 na na 262995 single nucleotide variant NM_007294.3(BRCA1):c.80+2T>A 80358128 MedGen:C2676676,OMIM:604370 17 41276032 41276032 A T 262995 single nucleotide variant NM_007294.3(BRCA1):c.80+2T>A 80358128 MedGen:C2676676,OMIM:604370 17 43124015 43124015 A T 262996 single nucleotide variant NM_007294.3(BRCA1):c.3G>C (p.Met1Ile) 80357475 MedGen:C2676676,OMIM:604370 17 43124094 43124094 C G 262996 single nucleotide variant NM_007294.3(BRCA1):c.3G>C (p.Met1Ile) 80357475 MedGen:C2676676,OMIM:604370 17 41276111 41276111 C G 262997 single nucleotide variant NM_007294.3(BRCA1):c.-19-2A>G 886040902 MedGen:C2676676,OMIM:604370 17 43124117 43124117 T C 262997 single nucleotide variant NM_007294.3(BRCA1):c.-19-2A>G 886040902 MedGen:C2676676,OMIM:604370 17 41276134 41276134 T C 262999 deletion NM_007294.3(BRCA1):c.4987-577_5074+343del -1 MedGen:C2676676,OMIM:604370 17 41219282 41220289 na na 262999 deletion NM_007294.3(BRCA1):c.4987-577_5074+343del -1 MedGen:C2676676,OMIM:604370 17 43067265 43068272 na na 263000 single nucleotide variant NM_007294.3(BRCA1):c.213-1G>T 80358146 MedGen:C2676676,OMIM:604370 17 43104957 43104957 C A 263000 single nucleotide variant NM_007294.3(BRCA1):c.213-1G>T 80358146 MedGen:C2676676,OMIM:604370 17 41256974 41256974 C A 263001 insertion NM_007294.3(BRCA1):c.134+3_134+4insT 886041002 MedGen:C2676676,OMIM:604370 17 43115722 43115723 - A 263001 insertion NM_007294.3(BRCA1):c.134+3_134+4insT 886041002 MedGen:C2676676,OMIM:604370 17 41267739 41267740 - A 264675 single nucleotide variant NM_007294.3(BRCA1):c.4009G>C (p.Asp1337His) 886041144 MedGen:CN169374 17 41243539 41243539 C G 264675 single nucleotide variant NM_007294.3(BRCA1):c.4009G>C (p.Asp1337His) 886041144 MedGen:CN169374 17 43091522 43091522 C G 264769 duplication NM_007294.3(BRCA1):c.2488_2504dup17 (p.His835Glnfs) 483353078 MedGen:CN221809 17 41245044 41245044 TGTCCCAATGGATACTT TGTCCCAATGGATACTTTGTCCCAATGGATACTT 264769 duplication NM_007294.3(BRCA1):c.2488_2504dup17 (p.His835Glnfs) 483353078 MedGen:CN221809 17 43093027 43093043 na na 265016 single nucleotide variant NM_007294.3(BRCA1):c.434C>T (p.Pro145Leu) 886041143 MedGen:CN169374 17 41256146 41256146 G A 265016 single nucleotide variant NM_007294.3(BRCA1):c.434C>T (p.Pro145Leu) 886041143 MedGen:CN169374 17 43104129 43104129 G A 328613 single nucleotide variant NM_007294.3(BRCA1):c.*1285C>A 757676381 MedGen:C0677776,Orphanet:ORPHA145 17 43044393 43044393 G T 328613 single nucleotide variant NM_007294.3(BRCA1):c.*1285C>A 757676381 MedGen:C0677776,Orphanet:ORPHA145 17 41196410 41196410 G T 328615 single nucleotide variant NM_007294.3(BRCA1):c.*485G>A 527725740 MedGen:C0677776,Orphanet:ORPHA145 17 41197210 41197210 C T 328615 single nucleotide variant NM_007294.3(BRCA1):c.*485G>A 527725740 MedGen:C0677776,Orphanet:ORPHA145 17 43045193 43045193 C T 328618 single nucleotide variant NM_007294.3(BRCA1):c.*387T>G 886052973 MedGen:C0677776,Orphanet:ORPHA145 17 41197308 41197308 A C 328618 single nucleotide variant NM_007294.3(BRCA1):c.*387T>G 886052973 MedGen:C0677776,Orphanet:ORPHA145 17 43045291 43045291 A C 328620 single nucleotide variant NM_007294.3(BRCA1):c.5466T>C (p.His1822=) 886052975 MedGen:C0677776,Orphanet:ORPHA145 17 41199661 41199661 A G 328620 single nucleotide variant NM_007294.3(BRCA1):c.5466T>C (p.His1822=) 886052975 MedGen:C0677776,Orphanet:ORPHA145 17 43047644 43047644 A G 328624 single nucleotide variant NM_007294.3(BRCA1):c.-109A>T 886052977 MedGen:C0677776,Orphanet:ORPHA145 17 41277377 41277377 T A 328624 single nucleotide variant NM_007294.3(BRCA1):c.-109A>T 886052977 MedGen:C0677776,Orphanet:ORPHA145 17 43125360 43125360 T A 338560 single nucleotide variant NM_007294.3(BRCA1):c.*1323A>G 189382442 MedGen:C0677776,Orphanet:ORPHA145 17 43044355 43044355 T C 338560 single nucleotide variant NM_007294.3(BRCA1):c.*1323A>G 189382442 MedGen:C0677776,Orphanet:ORPHA145 17 41196372 41196372 T C 338571 single nucleotide variant NM_007294.3(BRCA1):c.*1292T>C 182218567 MedGen:C0677776,Orphanet:ORPHA145 17 43044386 43044386 A G 338571 single nucleotide variant NM_007294.3(BRCA1):c.*1292T>C 182218567 MedGen:C0677776,Orphanet:ORPHA145 17 41196403 41196403 A G 338575 single nucleotide variant NM_007294.3(BRCA1):c.-86C>T 143160357 MedGen:C0677776,Orphanet:ORPHA145 17 41277354 41277354 G A 338575 single nucleotide variant NM_007294.3(BRCA1):c.-86C>T 143160357 MedGen:C0677776,Orphanet:ORPHA145 17 43125337 43125337 G A 344643 single nucleotide variant NM_007294.3(BRCA1):c.*750A>G 138782023 MedGen:C0677776,Orphanet:ORPHA145 17 41196945 41196945 T C 344643 single nucleotide variant NM_007294.3(BRCA1):c.*750A>G 138782023 MedGen:C0677776,Orphanet:ORPHA145 17 43044928 43044928 T C 344644 single nucleotide variant NM_007294.3(BRCA1):c.*465G>A 886052972 MedGen:C0677776,Orphanet:ORPHA145 17 41197230 41197230 C T 344644 single nucleotide variant NM_007294.3(BRCA1):c.*465G>A 886052972 MedGen:C0677776,Orphanet:ORPHA145 17 43045213 43045213 C T 344646 single nucleotide variant NM_007294.3(BRCA1):c.5467+14A>G 886052974 MedGen:C0677776,Orphanet:ORPHA145 17 41199646 41199646 T C 344646 single nucleotide variant NM_007294.3(BRCA1):c.5467+14A>G 886052974 MedGen:C0677776,Orphanet:ORPHA145 17 43047629 43047629 T C 346052 deletion NM_007294.3(BRCA1):c.*872_*873delAA 796257223 MedGen:C0677776,Orphanet:ORPHA145 17 43044805 43044806 TT - 346052 deletion NM_007294.3(BRCA1):c.*872_*873delAA 796257223 MedGen:C0677776,Orphanet:ORPHA145 17 41196822 41196823 TT - 346053 deletion NM_007294.3(BRCA1):c.*854_*855delCA 886052969 MedGen:C0677776,Orphanet:ORPHA145 17 43044823 43044824 TG - 346053 deletion NM_007294.3(BRCA1):c.*854_*855delCA 886052969 MedGen:C0677776,Orphanet:ORPHA145 17 41196840 41196841 TG - 346056 deletion NM_007294.3(BRCA1):c.*854delC 886052970 MedGen:C0677776,Orphanet:ORPHA145 17 41196841 41196841 G - 346056 deletion NM_007294.3(BRCA1):c.*854delC 886052970 MedGen:C0677776,Orphanet:ORPHA145 17 43044824 43044824 G - 346058 single nucleotide variant NM_007294.3(BRCA1):c.*743G>T 886052971 MedGen:C0677776,Orphanet:ORPHA145 17 41196952 41196952 C A 346058 single nucleotide variant NM_007294.3(BRCA1):c.*743G>T 886052971 MedGen:C0677776,Orphanet:ORPHA145 17 43044935 43044935 C A 346059 single nucleotide variant NM_007294.3(BRCA1):c.*693C>T 540031582 MedGen:C0677776,Orphanet:ORPHA145 17 41197002 41197002 G A 346059 single nucleotide variant NM_007294.3(BRCA1):c.*693C>T 540031582 MedGen:C0677776,Orphanet:ORPHA145 17 43044985 43044985 G A 346067 single nucleotide variant NM_007294.3(BRCA1):c.-22A>G 886052976 MedGen:C0677776,Orphanet:ORPHA145 17 41277290 41277290 T C 346067 single nucleotide variant NM_007294.3(BRCA1):c.-22A>G 886052976 MedGen:C0677776,Orphanet:ORPHA145 17 43125273 43125273 T C 358925 single nucleotide variant NM_007294.3(BRCA1):c.*1286C>T 548275991 MedGen:C2676676,OMIM:604370 17 41196409 41196409 G A 358925 single nucleotide variant NM_007294.3(BRCA1):c.*1286C>T 548275991 MedGen:C2676676,OMIM:604370 17 43044392 43044392 G A 358926 single nucleotide variant NM_007294.3(BRCA1):c.5467+22G>C 779046757 MedGen:C2676676,OMIM:604370 17 43047621 43047621 C G 358926 single nucleotide variant NM_007294.3(BRCA1):c.5467+22G>C 779046757 MedGen:C2676676,OMIM:604370 17 41199638 41199638 C G 358927 duplication NM_007294.3(BRCA1):c.5440dupG (p.Ala1814Glyfs) 1057517637 MedGen:C2676676,OMIM:604370 17 43047670 43047670 C CC 358927 duplication NM_007294.3(BRCA1):c.5440dupG (p.Ala1814Glyfs) 1057517637 MedGen:C2676676,OMIM:604370 17 41199687 41199687 C CC 358928 single nucleotide variant NM_007294.3(BRCA1):c.5407-25T>A 758780152 MedGen:C2676676,OMIM:604370 17 43047728 43047728 A T 358928 single nucleotide variant NM_007294.3(BRCA1):c.5407-25T>A 758780152 MedGen:C2676676,OMIM:604370 17 41199745 41199745 A T 358929 deletion NM_007294.3(BRCA1):c.5406+24_5406+27delAGAG 766938984 MedGen:C2676676,OMIM:604370 17 43049094 43049097 CTCT - 358929 deletion NM_007294.3(BRCA1):c.5406+24_5406+27delAGAG 766938984 MedGen:C2676676,OMIM:604370 17 41201111 41201114 CTCT - 358930 single nucleotide variant NM_007294.3(BRCA1):c.5307T>G (p.Tyr1769Ter) 397509258 MedGen:C2676676,OMIM:604370 17 43051088 43051088 A C 358930 single nucleotide variant NM_007294.3(BRCA1):c.5307T>G (p.Tyr1769Ter) 397509258 MedGen:C2676676,OMIM:604370 17 41203105 41203105 A C 358931 single nucleotide variant NM_007294.3(BRCA1):c.5278-22C>T 185646848 MedGen:C2676676,OMIM:604370 17 41203156 41203156 G A 358931 single nucleotide variant NM_007294.3(BRCA1):c.5278-22C>T 185646848 MedGen:C2676676,OMIM:604370 17 43051139 43051139 G A 358932 deletion NM_007294.3(BRCA1):c.5156delT (p.Val1719Glyfs) 1057517590 MedGen:C2676676,OMIM:604370 17 43063370 43063370 A - 358932 deletion NM_007294.3(BRCA1):c.5156delT (p.Val1719Glyfs) 1057517590 MedGen:C2676676,OMIM:604370 17 41215387 41215387 A - 358933 single nucleotide variant NM_007294.3(BRCA1):c.5074+23A>G 778115859 MedGen:C2676676,OMIM:604370 17 43067585 43067585 T C 358933 single nucleotide variant NM_007294.3(BRCA1):c.5074+23A>G 778115859 MedGen:C2676676,OMIM:604370 17 41219602 41219602 T C 358934 single nucleotide variant NM_007294.3(BRCA1):c.4675+11A>G 750095985 MedGen:C2676676,OMIM:604370 17 43074320 43074320 T C 358934 single nucleotide variant NM_007294.3(BRCA1):c.4675+11A>G 750095985 MedGen:C2676676,OMIM:604370 17 41226337 41226337 T C 358935 single nucleotide variant NM_007294.3(BRCA1):c.4358-2715C>A 746972533 MedGen:C2676676,OMIM:604370 17 43079329 43079329 G T 358935 single nucleotide variant NM_007294.3(BRCA1):c.4358-2715C>A 746972533 MedGen:C2676676,OMIM:604370 17 41231346 41231346 G T 358936 single nucleotide variant NM_007294.3(BRCA1):c.4358-2720G>A 183331660 MedGen:C2676676,OMIM:604370 17 41231351 41231351 C T 358936 single nucleotide variant NM_007294.3(BRCA1):c.4358-2720G>A 183331660 MedGen:C2676676,OMIM:604370 17 43079334 43079334 C T 358937 single nucleotide variant NM_007294.3(BRCA1):c.4358-2726A>G 775348455 MedGen:C2676676,OMIM:604370 17 43079340 43079340 T C 358937 single nucleotide variant NM_007294.3(BRCA1):c.4358-2726A>G 775348455 MedGen:C2676676,OMIM:604370 17 41231357 41231357 T C 358938 single nucleotide variant NM_007294.3(BRCA1):c.4358-2735A>G 1057517571 MedGen:C2676676,OMIM:604370 17 41231366 41231366 T C 358938 single nucleotide variant NM_007294.3(BRCA1):c.4358-2735A>G 1057517571 MedGen:C2676676,OMIM:604370 17 43079349 43079349 T C 358939 duplication NM_007294.3(BRCA1):c.4185+21_4185+22dupTG 273900725 MedGen:C2676676,OMIM:604370 17 43090922 43090923 CA CACA 358939 duplication NM_007294.3(BRCA1):c.4185+21_4185+22dupTG 273900725 MedGen:C2676676,OMIM:604370 17 41242939 41242940 CA CACA 358940 single nucleotide variant NM_007294.3(BRCA1):c.4146C>A (p.Cys1382Ter) 1057517574 MedGen:C2676676,OMIM:604370 17 41243000 41243000 G T 358940 single nucleotide variant NM_007294.3(BRCA1):c.4146C>A (p.Cys1382Ter) 1057517574 MedGen:C2676676,OMIM:604370 17 43090983 43090983 G T 358941 deletion NM_007294.3(BRCA1):c.3772_3774delGAG (p.Glu1258del) 1057517536 MedGen:C2676676,OMIM:604370 17 41243774 41243776 CTC - 358941 deletion NM_007294.3(BRCA1):c.3772_3774delGAG (p.Glu1258del) 1057517536 MedGen:C2676676,OMIM:604370 17 43091757 43091759 CTC - 358942 single nucleotide variant NM_007294.3(BRCA1):c.869T>A (p.Leu290Ter) 730881468 MedGen:C2676676,OMIM:604370 17 43094662 43094662 A T 358942 single nucleotide variant NM_007294.3(BRCA1):c.869T>A (p.Leu290Ter) 730881468 MedGen:C2676676,OMIM:604370 17 41246679 41246679 A T 358943 single nucleotide variant NM_007294.3(BRCA1):c.-19-1G>A 569074958 MedGen:C2676676,OMIM:604370 17 41276133 41276133 C T 358943 single nucleotide variant NM_007294.3(BRCA1):c.-19-1G>A 569074958 MedGen:C2676676,OMIM:604370 17 43124116 43124116 C T 358944 duplication NM_007294.3(BRCA1):c.-20+107dupG 759063490 MedGen:C2676676,OMIM:604370 17 43125164 43125164 C CC 358944 duplication NM_007294.3(BRCA1):c.-20+107dupG 759063490 MedGen:C2676676,OMIM:604370 17 41277181 41277181 C CC 358945 single nucleotide variant NM_007294.3(BRCA1):c.-20+103G>C 1057517546 MedGen:C2676676,OMIM:604370 17 41277185 41277185 C G 358945 single nucleotide variant NM_007294.3(BRCA1):c.-20+103G>C 1057517546 MedGen:C2676676,OMIM:604370 17 43125168 43125168 C G 358946 single nucleotide variant NM_007294.3(BRCA1):c.-20+103G>A 1057517546 MedGen:C2676676,OMIM:604370 17 43125168 43125168 C T 358946 single nucleotide variant NM_007294.3(BRCA1):c.-20+103G>A 1057517546 MedGen:C2676676,OMIM:604370 17 41277185 41277185 C T 358947 indel NM_007294.3(BRCA1):c.-20+101_-20+102delCGinsGC 1057517555 MedGen:C2676676,OMIM:604370 17 43125169 43125170 CG GC 358947 indel NM_007294.3(BRCA1):c.-20+101_-20+102delCGinsGC 1057517555 MedGen:C2676676,OMIM:604370 17 41277186 41277187 CG GC 358948 single nucleotide variant NM_007294.3(BRCA1):c.-20+59G>T 1057517547 MedGen:C2676676,OMIM:604370 17 43125212 43125212 C A 358948 single nucleotide variant NM_007294.3(BRCA1):c.-20+59G>T 1057517547 MedGen:C2676676,OMIM:604370 17 41277229 41277229 C A 358949 single nucleotide variant NM_007294.3(BRCA1):c.-20+55G>A 772215665 MedGen:C2676676,OMIM:604370 17 43125216 43125216 C T 358949 single nucleotide variant NM_007294.3(BRCA1):c.-20+55G>A 772215665 MedGen:C2676676,OMIM:604370 17 41277233 41277233 C T 360716 insertion NM_007294.3(BRCA1):c.5463_5464insT (p.His1822Serfs) 1057518636 MedGen:CN221572 17 43047646 43047647 - A 360716 insertion NM_007294.3(BRCA1):c.5463_5464insT (p.His1822Serfs) 1057518636 MedGen:CN221572 17 41199663 41199664 - A 360717 single nucleotide variant NM_007294.3(BRCA1):c.5006C>T (p.Ala1669Val) 1057518640 MedGen:CN221572 17 41219693 41219693 G A 360717 single nucleotide variant NM_007294.3(BRCA1):c.5006C>T (p.Ala1669Val) 1057518640 MedGen:CN221572 17 43067676 43067676 G A 360718 single nucleotide variant NM_007294.3(BRCA1):c.4963T>C (p.Ser1655Pro) 1057518639 MedGen:CN221572 17 43070951 43070951 A G 360718 single nucleotide variant NM_007294.3(BRCA1):c.4963T>C (p.Ser1655Pro) 1057518639 MedGen:CN221572 17 41222968 41222968 A G 360720 deletion NG_005905.2:g.169527_180579del11053 -1 MedGen:C2676676,OMIM:604370 17 43037405 43048457 na na 360720 deletion NG_005905.2:g.169527_180579del11053 -1 MedGen:C2676676,OMIM:604370 17 41189422 41200474 na na 360721 indel NM_007294.3(BRCA1):c.5468-285_*4016delinsCA -1 MedGen:C2676676,OMIM:604370 17 41193679 41198104 na TG 360721 indel NM_007294.3(BRCA1):c.5468-285_*4016delinsCA -1 MedGen:C2676676,OMIM:604370 17 43041662 43046087 na TG 360722 duplication NG_005905.2:g.163032_170685dup7654 -1 MedGen:C2676676,OMIM:604370 17 43047299 43054952 na na 360722 duplication NG_005905.2:g.163032_170685dup7654 -1 MedGen:C2676676,OMIM:604370 17 41199316 41206969 na na 360723 deletion NG_005905.2:g.158009_169399del11391 -1 MedGen:C2676676,OMIM:604370 17 43048585 43059975 na na 360723 deletion NG_005905.2:g.158009_169399del11391 -1 MedGen:C2676676,OMIM:604370 17 41200602 41211992 na na 360724 deletion NG_005905.2:g.142345_165745del23401 -1 MedGen:C2676676,OMIM:604370 17 43052239 43075639 na na 360724 deletion NG_005905.2:g.142345_165745del23401 -1 MedGen:C2676676,OMIM:604370 17 41204256 41227656 na na 360725 deletion NG_005905.2:g.160911_164110del3200 -1 MedGen:C2676676,OMIM:604370 17 41205891 41209090 na na 360725 deletion NG_005905.2:g.160911_164110del3200 -1 MedGen:C2676676,OMIM:604370 17 43053874 43057073 na na 360726 duplication NG_005905.2:g.152940_163021dup10082 -1 MedGen:C2676676,OMIM:604370 17 43054963 43065044 na na 360726 duplication NG_005905.2:g.152940_163021dup10082 -1 MedGen:C2676676,OMIM:604370 17 41206980 41217061 na na 360727 deletion NG_005905.2:g.157279_161602del4324 -1 MedGen:C2676676,OMIM:604370 17 43056382 43060705 na na 360727 deletion NG_005905.2:g.157279_161602del4324 -1 MedGen:C2676676,OMIM:604370 17 41208399 41212722 na na 360728 indel NG_005905.2:g.152586_159830del7245ins27 -1 MedGen:C2676676,OMIM:604370 17 43058154 43065398 na na 360728 indel NG_005905.2:g.152586_159830del7245ins27 -1 MedGen:C2676676,OMIM:604370 17 41210171 41217415 na na 360729 indel NG_005905.2:g.154259_156851del2593insTTTTTTTTTTTT -1 MedGen:C2676676,OMIM:604370 17 43061133 43063725 na AAAAAAAAAAAA 360729 indel NG_005905.2:g.154259_156851del2593insTTTTTTTTTTTT -1 MedGen:C2676676,OMIM:604370 17 41213150 41215742 na AAAAAAAAAAAA 360730 deletion NG_005905.2:g.151367_156192del4826 -1 MedGen:C2676676,OMIM:604370 17 43061792 43066617 na na 360730 deletion NG_005905.2:g.151367_156192del4826 -1 MedGen:C2676676,OMIM:604370 17 41213809 41218634 na na 360731 deletion NG_005905.2:g.147946_153049del5104 -1 MedGen:C2676676,OMIM:604370 17 43064935 43070038 na na 360731 deletion NG_005905.2:g.147946_153049del5104 -1 MedGen:C2676676,OMIM:604370 17 41216952 41222055 na na 360732 deletion NG_005905.2:g.148011_151127del3117 -1 MedGen:C2676676,OMIM:604370 17 41218874 41221990 na na 360732 deletion NG_005905.2:g.148011_151127del3117 -1 MedGen:C2676676,OMIM:604370 17 43066857 43069973 na na 360733 duplication NG_005905.2:g.139641_147792dup8152 -1 MedGen:C2676676,OMIM:604370 17 41222209 41230360 na na 360733 duplication NG_005905.2:g.139641_147792dup8152 -1 MedGen:C2676676,OMIM:604370 17 43070192 43078343 na na 360734 deletion NG_005905.2:g.126374_136783del10410 -1 MedGen:C2676676,OMIM:604370 17 43081201 43091610 na na 360734 deletion NG_005905.2:g.126374_136783del10410 -1 MedGen:C2676676,OMIM:604370 17 41233218 41243627 na na 360735 deletion NG_005905.2:g.116869_123429del6561 -1 MedGen:C2676676,OMIM:604370 17 41246572 41253132 na na 360735 deletion NG_005905.2:g.116869_123429del6561 -1 MedGen:C2676676,OMIM:604370 17 43094555 43101115 na na 360736 deletion NG_005905.2:g.117282_121246del3965 -1 MedGen:C2676676,OMIM:604370 17 43096738 43100702 na na 360736 deletion NG_005905.2:g.117282_121246del3965 -1 MedGen:C2676676,OMIM:604370 17 41248755 41252719 na na 360737 deletion NG_005905.2:g.110447_115471del5025 -1 MedGen:C2676676,OMIM:604370 17 43102513 43107537 na na 360737 deletion NG_005905.2:g.110447_115471del5025 -1 MedGen:C2676676,OMIM:604370 17 41254530 41259554 na na 360738 deletion NG_005905.2:g.110245_115469del5225 -1 MedGen:C2676676,OMIM:604370 17 43102515 43107739 na na 360738 deletion NG_005905.2:g.110245_115469del5225 -1 MedGen:C2676676,OMIM:604370 17 41254532 41259756 na na 360739 deletion NG_005905.2:g.96347_106508del10162 -1 MedGen:C2676676,OMIM:604370 17 41263493 41273654 na na 360739 deletion NG_005905.2:g.96347_106508del10162 -1 MedGen:C2676676,OMIM:604370 17 43111476 43121637 na na 360740 indel NM_007294.3:c.-19-48_80+248delinsU77841.1:g.2145_2536 -1 MedGen:C2676676,OMIM:604370 17 41275786 41276180 na na 360740 indel NM_007294.3:c.-19-48_80+248delinsU77841.1:g.2145_2536 -1 MedGen:C2676676,OMIM:604370 17 43123769 43124163 na na 360741 duplication NG_005905.2:g.133626_139705dup -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 360742 deletion NG_005905.2:g.110966_142550del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 360743 deletion NG_005905.2:g.116321_140085del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 360744 deletion NG_005905.2:g.118449_154829del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 360745 deletion NG_005905.2:g.137094_142043del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 360746 deletion NG_005905.2:g.61068_98138del -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 360749 deletion NG_005905.2:g.(?_92501)_(135581_1441370)del -1 MedGen:C2676676,OMIM:604370 17 43024295 43125483 na na 360749 deletion NG_005905.2:g.(?_92501)_(135581_1441370)del -1 MedGen:C2676676,OMIM:604370 17 41176312 41277500 na na 360750 deletion NG_005905.2:g.(?_92501)_(170342_172181)del -1 MedGen:C2676676,OMIM:604370 17 43045803 43125483 na na 360750 deletion NG_005905.2:g.(?_92501)_(170342_172181)del -1 MedGen:C2676676,OMIM:604370 17 41197820 41277500 na na 360751 deletion NG_005905.2:g.(?_92501)_(168862_170280)del -1 MedGen:C2676676,OMIM:604370 17 43047704 43125483 na na 360751 deletion NG_005905.2:g.(?_92501)_(168862_170280)del -1 MedGen:C2676676,OMIM:604370 17 41199721 41277500 na na 360752 duplication NG_005905.2:g.(?_92501)_(168862_170280)dup -1 MedGen:C2676676,OMIM:604370 17 41199721 41277500 na na 360752 duplication NG_005905.2:g.(?_92501)_(168862_170280)dup -1 MedGen:C2676676,OMIM:604370 17 43047704 43125483 na na 360753 deletion NG_005905.2:g.(?_92501)_(166922_168789)del -1 MedGen:C2676676,OMIM:604370 17 41201212 41277500 na na 360753 deletion NG_005905.2:g.(?_92501)_(166922_168789)del -1 MedGen:C2676676,OMIM:604370 17 43049195 43125483 na na 360754 deletion NG_005905.2:g.(147057_150288)_(160933_166866)del -1 MedGen:C2676676,OMIM:604370 17 43051118 43070927 na na 360754 deletion NG_005905.2:g.(147057_150288)_(160933_166866)del -1 MedGen:C2676676,OMIM:604370 17 41203135 41222944 na na 360755 deletion NG_005905.2:g.(?_92501)_(160933_166866)del -1 MedGen:C2676676,OMIM:604370 17 41203135 41277500 na na 360755 deletion NG_005905.2:g.(?_92501)_(160933_166866)del -1 MedGen:C2676676,OMIM:604370 17 43051118 43125483 na na 360756 deletion NG_005905.2:g.(?_92501)_(154652_160848)del -1 MedGen:C2676676,OMIM:604370 17 43057136 43125483 na na 360756 deletion NG_005905.2:g.(?_92501)_(154652_160848)del -1 MedGen:C2676676,OMIM:604370 17 41209153 41277500 na na 360757 deletion NG_005905.2:g.(?_92501)_(150377_154032)del -1 MedGen:C2676676,OMIM:604370 17 43063952 43125483 na na 360757 deletion NG_005905.2:g.(?_92501)_(150377_154032)del -1 MedGen:C2676676,OMIM:604370 17 41215969 41277500 na na 360758 deletion NG_005905.2:g.(?_92501)_(141497_143462)del -1 MedGen:C2676676,OMIM:604370 17 43074522 43125483 na na 360758 deletion NG_005905.2:g.(?_92501)_(141497_143462)del -1 MedGen:C2676676,OMIM:604370 17 41226539 41277500 na na 360759 deletion NG_005905.2:g.(?_92501)_(127041_135408)del -1 MedGen:C2676676,OMIM:604370 17 43082576 43125483 na na 360759 deletion NG_005905.2:g.(?_92501)_(127041_135408)del -1 MedGen:C2676676,OMIM:604370 17 41234593 41277500 na na 360760 duplication NG_005905.2:g.(122139_123344)_(126550_126951)dup -1 MedGen:C2676676,OMIM:604370 17 43091033 43095845 na na 360760 duplication NG_005905.2:g.(122139_123344)_(126550_126951)dup -1 MedGen:C2676676,OMIM:604370 17 41243050 41247862 na na 360761 deletion NG_005905.2:g.(?_92501)_(126550_126951)del -1 MedGen:C2676676,OMIM:604370 17 43091033 43125483 na na 360761 deletion NG_005905.2:g.(?_92501)_(126550_126951)del -1 MedGen:C2676676,OMIM:604370 17 41243050 41277500 na na 360762 deletion NG_005905.2:g.(?_92501)_(113863_118103)del -1 MedGen:C2676676,OMIM:604370 17 41251898 41277500 na na 360762 deletion NG_005905.2:g.(?_92501)_(113863_118103)del -1 MedGen:C2676676,OMIM:604370 17 43099881 43125483 na na 360763 deletion NG_005905.2:g.(?_92501)_(102259_111450)del -1 MedGen:C2676676,OMIM:604370 17 41258551 41277500 na na 360763 deletion NG_005905.2:g.(?_92501)_(102259_111450)del -1 MedGen:C2676676,OMIM:604370 17 43106534 43125483 na na 360764 deletion NG_005905.2:g.(?_92501)_(93968_102204)del -1 MedGen:C2676676,OMIM:604370 17 43115780 43125483 na na 360764 deletion NG_005905.2:g.(?_92501)_(93968_102204)del -1 MedGen:C2676676,OMIM:604370 17 41267797 41277500 na na 360765 duplication NG_005905.2:g.(?_92501)_(93968_102204)dup -1 MedGen:C2676676,OMIM:604370 17 43115780 43125483 na na 360765 duplication NG_005905.2:g.(?_92501)_(93968_102204)dup -1 MedGen:C2676676,OMIM:604370 17 41267797 41277500 na na 360766 deletion NG_005905.2:g.(?_92501)_(92714_93868)del -1 MedGen:C2676676,OMIM:604370 17 41276133 41277500 na na 360766 deletion NG_005905.2:g.(?_92501)_(92714_93868)del -1 MedGen:C2676676,OMIM:604370 17 43124116 43125483 na na 360767 deletion NG_005905.2:g.(170342_172181)_(172307_?)del -1 MedGen:C2676676,OMIM:604370 17 43045677 43047642 na na 360767 deletion NG_005905.2:g.(170342_172181)_(172307_?)del -1 MedGen:C2676676,OMIM:604370 17 41197694 41199659 na na 360768 deletion NG_005905.2:g.(168864_170280)_(172307_?)del -1 MedGen:C2676676,OMIM:604370 17 43045677 43049120 na na 360768 deletion NG_005905.2:g.(168864_170280)_(172307_?)del -1 MedGen:C2676676,OMIM:604370 17 41197694 41201137 na na 360769 deletion NG_005905.2:g.(160933_166866)_(172307_?)del -1 MedGen:C2676676,OMIM:604370 17 41197694 41209068 na na 360769 deletion NG_005905.2:g.(160933_166866)_(172307_?)del -1 MedGen:C2676676,OMIM:604370 17 43045677 43057051 na na 360770 deletion NG_005905.2:g.(154652_160848)_(172307_?)del -1 MedGen:C2676676,OMIM:604370 17 41197694 41215349 na na 360770 deletion NG_005905.2:g.(154652_160848)_(172307_?)del -1 MedGen:C2676676,OMIM:604370 17 43045677 43063332 na na 360771 deletion NG_005905.2:g.(150290_154032)_(172307_?)del -1 MedGen:C2676676,OMIM:604370 17 41197694 41219711 na na 360771 deletion NG_005905.2:g.(150290_154032)_(172307_?)del -1 MedGen:C2676676,OMIM:604370 17 43045677 43067694 na na 360772 deletion NG_005905.2:g.(147057_150288)_(172307_?)del -1 MedGen:C2676676,OMIM:604370 17 41197694 41222944 na na 360772 deletion NG_005905.2:g.(147057_150288)_(172307_?)del -1 MedGen:C2676676,OMIM:604370 17 43045677 43070927 na na 360773 deletion NG_005905.2:g.(113863_118103)_(172307_?)del -1 MedGen:C2676676,OMIM:604370 17 43045677 43104121 na na 360773 deletion NG_005905.2:g.(113863_118103)_(172307_?)del -1 MedGen:C2676676,OMIM:604370 17 41197694 41256138 na na 360774 deletion NG_005905.2:g.(102259_111450)_(172307_?)del -1 MedGen:C2676676,OMIM:604370 17 43045677 43115725 na na 360774 deletion NG_005905.2:g.(102259_111450)_(172307_?)del -1 MedGen:C2676676,OMIM:604370 17 41197694 41267742 na na 360775 deletion NG_005905.2:g.(92714_93868)_(172307_?)del -1 MedGen:C2676676,OMIM:604370 17 41197694 41277287 na na 360775 deletion NG_005905.2:g.(92714_93868)_(172307_?)del -1 MedGen:C2676676,OMIM:604370 17 43045677 43125270 na na 360776 deletion NG_005905.2:g.(?_92501)_(172307_?)del -1 MedGen:C2676676,OMIM:604370 17 41197694 41277500 na na 360776 deletion NG_005905.2:g.(?_92501)_(172307_?)del -1 MedGen:C2676676,OMIM:604370 17 43045677 43125483 na na 360778 insertion NM_007294.3:c.(671_4096)ins(300) -1 MedGen:C2676676,OMIM:604370 na -1 -1 na na 361882 single nucleotide variant NM_007294.3(BRCA1):c.3028C>T (p.Pro1010Ser) -1 MedGen:C2676676,OMIM:604370 17 43092503 43092503 G A 361882 single nucleotide variant NM_007294.3(BRCA1):c.3028C>T (p.Pro1010Ser) -1 MedGen:C2676676,OMIM:604370 17 41244520 41244520 G A

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 17 41196408 rs12516 G A rs12516 5.16E-04 PROPYLTHIOURACIL RECEPTORS, G-PROTEIN-COUPLED|TASTE RECEPTORS, TYPE 2 Taste perception HPOID:0000223 DOID:0050155 C UTR-3 GWASdb_drug 17 41244936 rs799917 G A,C,T rs799917 5.21E-05 PROPYLTHIOURACIL RECEPTORS, G-PROTEIN-COUPLED|TASTE RECEPTORS, TYPE 2 Taste perception HPOID:0000223 DOID:0050155 T missense GWASdb_drug 17 41247122 rs397763555 A ACCT rs8176150 7.81E-04 PROPYLTHIOURACIL RECEPTORS, G-PROTEIN-COUPLED|TASTE RECEPTORS, TYPE 2 Taste perception HPOID:0000223 DOID:0050155 NA intron GWASdb_drug 17 41247122 rs5820483 A ACCT rs8176150 7.81E-04 PROPYLTHIOURACIL RECEPTORS, G-PROTEIN-COUPLED|TASTE RECEPTORS, TYPE 2 Taste perception HPOID:0000223 DOID:0050155 NA intron GWASdb_drug 17 41247122 rs71228776 A ACCT rs8176150 7.81E-04 PROPYLTHIOURACIL RECEPTORS, G-PROTEIN-COUPLED|TASTE RECEPTORS, TYPE 2 Taste perception HPOID:0000223 DOID:0050155 NA intron GWASdb_drug 17 41257134 rs799912 T C rs799912 5.59E-05 PROPYLTHIOURACIL RECEPTORS, G-PROTEIN-COUPLED|TASTE RECEPTORS, TYPE 2 Taste perception HPOID:0000223 DOID:0050155 C,T intron GWASdb_drug 17 41196408 rs12516 G A rs12516 5.16E-04 Taste perception HPOID:0000223 DOID:0050155 C UTR-3 GWASdb_trait 17 41197274 rs8176318 C A rs8176318 7.66E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 G UTR-3 GWASdb_trait 17 41200109 rs4793190 T C rs4793190 8.33E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 T intron GWASdb_trait 17 41201702 rs3092988 C T rs3092988 7.80E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 G intron GWASdb_trait 17 41202688 rs8070179 G A rs8070179 7.74E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 A intron GWASdb_trait 17 41203325 rs8176297 T A rs8176297 7.85E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 T intron GWASdb_trait 17 41204377 rs4793191 A G rs4793191 7.93E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 A intron GWASdb_trait 17 41206056 rs8176289 T C rs8176289 8.00E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 G,A intron GWASdb_trait 17 41211653 rs8176273 A G rs8176273 8.09E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 T intron GWASdb_trait 17 41213996 rs8176265 C T rs8176265 7.68E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 G intron GWASdb_trait 17 41215825 rs3092994 C T rs3092994 7.74E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 A intron GWASdb_trait 17 41217874 rs8176242 C T rs8176242 9.89E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 G intron GWASdb_trait 17 41218333 rs4793194 G A rs4793194 9.89E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 G intron GWASdb_trait 17 41223094 rs1799966 T A,C,G rs1799966 9.92E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 A missense GWASdb_trait 17 41223094 rs397509198 T TC rs1799966 9.92E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 A missense GWASdb_trait 17 41230228 rs8176202 G A rs8176202 9.95E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 C intron GWASdb_trait 17 41231221 rs8176194 A C rs8176194 9.96E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 T intron GWASdb_trait 17 41231516 rs8176193 C T rs8176193 9.96E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 A intron GWASdb_trait 17 41231902 rs4793197 G A rs4793197 9.96E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 G intron GWASdb_trait 17 41234470 rs1060915 A C,G,T rs1060915 9.95E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 T cds-synon GWASdb_trait 17 41235799 rs8067269 G A rs8067269 9.82E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 A intron GWASdb_trait 17 41237953 rs3950989 G A rs3950989 9.66E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 A intron GWASdb_trait 17 41242285 rs2070834 T G rs2070834 9.63E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 A intron GWASdb_trait 17 41243190 rs799916 T G rs799916 9.71E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 C intron GWASdb_trait 17 41244000 rs16942 T C rs16942 9.60E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 G missense GWASdb_trait 17 41244435 rs16941 T A,C,G rs16941 9.58E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 A missense GWASdb_trait 17 41244435 rs80357920 TCTTTAA T rs16941 9.58E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 A missense GWASdb_trait 17 41244936 rs799917 G A,C,T rs799917 9.67E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 T missense GWASdb_trait 17 41244936 rs799917 G A,C,T rs799917 5.21E-05 Taste perception HPOID:0000223 DOID:0050155 T missense GWASdb_trait 17 41245237 rs16940 A G rs16940 9.40E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 T cds-synon GWASdb_trait 17 41245237 rs397508955 A AG,ATGAAATACTGCTACTCTCT rs16940 9.40E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 T cds-synon GWASdb_trait 17 41245466 rs1799949 G A rs1799949 9.36E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 C cds-synon GWASdb_trait 17 41247122 rs397763555 A ACCT rs8176150 7.81E-04 Taste perception HPOID:0000223 DOID:0050155 NA intron GWASdb_trait 17 41247122 rs5820483 A ACCT rs8176150 7.81E-04 Taste perception HPOID:0000223 DOID:0050155 NA intron GWASdb_trait 17 41247122 rs71228776 A ACCT rs8176150 7.81E-04 Taste perception HPOID:0000223 DOID:0050155 NA intron GWASdb_trait 17 41251646 rs8176140 T A rs8176140 8.98E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 T intron GWASdb_trait 17 41257134 rs799912 T C rs799912 9.18E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 C,T intron GWASdb_trait 17 41257134 rs799912 T C rs799912 5.59E-05 Taste perception HPOID:0000223 DOID:0050155 C,T intron GWASdb_trait 17 41259049 rs8176126 C T rs8176126 9.29E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 A intron GWASdb_trait 17 41259049 rs8176126 C T rs8176126 7.01E-13 Lymphocyte counts HPOID:0004332|HPOID:0002665 DOID:2841|DOID:1240|DOID:0060058|DOID:614|DOID:1287 A intron GWASdb_trait 17 41276247 rs3765640 A G rs3765640 9.07E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 T intron GWASdb_trait 17 41277187 rs799905 G C rs799905 9.04E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000012048.20 BRCA1 113705