Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 23084 single nucleotide variant NM_000465.3(BARD1):c.1670G>C (p.Cys557Ser) 28997576 MedGen:CN221572;MedGen:CN068448;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215617178 215617178 C G 23084 single nucleotide variant NM_000465.3(BARD1):c.1670G>C (p.Cys557Ser) 28997576 MedGen:CN221572;MedGen:CN068448;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214752454 214752454 C G 133169 single nucleotide variant NM_000465.3(BARD1):c.1028C>T (p.Thr343Ile) 201032007 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215645570 215645570 G A 133169 single nucleotide variant NM_000465.3(BARD1):c.1028C>T (p.Thr343Ile) 201032007 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214780846 214780846 G A 133170 single nucleotide variant NM_000465.3(BARD1):c.1217G>A (p.Arg406Gln) 587780014 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215645381 215645381 C T 133170 single nucleotide variant NM_000465.3(BARD1):c.1217G>A (p.Arg406Gln) 587780014 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214780657 214780657 C T 133171 single nucleotide variant NM_000465.3(BARD1):c.1289C>G (p.Thr430Ser) 587780015 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215645309 215645309 G C 133171 single nucleotide variant NM_000465.3(BARD1):c.1289C>G (p.Thr430Ser) 587780015 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214780585 214780585 G C 133172 single nucleotide variant NM_000465.3(BARD1):c.1540C>G (p.Leu514Val) 587780016 MedGen:CN169374 2 215632234 215632234 G C 133172 single nucleotide variant NM_000465.3(BARD1):c.1540C>G (p.Leu514Val) 587780016 MedGen:CN169374 2 214767510 214767510 G C 133173 single nucleotide variant NM_000465.3(BARD1):c.1568T>C (p.Val523Ala) 587780017 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215632206 215632206 A G 133173 single nucleotide variant NM_000465.3(BARD1):c.1568T>C (p.Val523Ala) 587780017 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214767482 214767482 A G 133174 single nucleotide variant NM_000465.3(BARD1):c.1569-13C>G 587780018 MedGen:CN169374 2 215617292 215617292 G C 133174 single nucleotide variant NM_000465.3(BARD1):c.1569-13C>G 587780018 MedGen:CN169374 2 214752568 214752568 G C 133175 single nucleotide variant NM_000465.3(BARD1):c.1677+5G>A 587780019 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215617166 215617166 C T 133175 single nucleotide variant NM_000465.3(BARD1):c.1677+5G>A 587780019 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214752442 214752442 C T 133176 single nucleotide variant NM_000465.3(BARD1):c.1678A>C (p.Met560Leu) 587780020 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 2 215610578 215610578 T G 133176 single nucleotide variant NM_000465.3(BARD1):c.1678A>C (p.Met560Leu) 587780020 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 2 214745854 214745854 T G 133177 single nucleotide variant NM_000465.3(BARD1):c.1690C>T (p.Gln564Ter) 587780021 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 2 215610566 215610566 G A 133177 single nucleotide variant NM_000465.3(BARD1):c.1690C>T (p.Gln564Ter) 587780021 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 2 214745842 214745842 G A 133178 single nucleotide variant NM_000465.3(BARD1):c.1694G>A (p.Arg565His) 146946984 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215610562 215610562 C T 133178 single nucleotide variant NM_000465.3(BARD1):c.1694G>A (p.Arg565His) 146946984 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214745838 214745838 C T 133179 single nucleotide variant NM_000465.3(BARD1):c.1718T>C (p.Ile573Thr) 587780022 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215610538 215610538 A G 133179 single nucleotide variant NM_000465.3(BARD1):c.1718T>C (p.Ile573Thr) 587780022 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214745814 214745814 A G 133180 single nucleotide variant NM_000465.3(BARD1):c.1793C>A (p.Thr598Asn) 376256852 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 2 215610463 215610463 G T 133180 single nucleotide variant NM_000465.3(BARD1):c.1793C>A (p.Thr598Asn) 376256852 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 2 214745739 214745739 G T 133181 single nucleotide variant NM_000465.3(BARD1):c.1867G>C (p.Gly623Arg) 587780023 MedGen:CN169374 2 215609827 215609827 C G 133181 single nucleotide variant NM_000465.3(BARD1):c.1867G>C (p.Gly623Arg) 587780023 MedGen:CN169374 2 214745103 214745103 C G 133182 duplication NM_000465.3(BARD1):c.1935_1954dup20 (p.Glu652Valfs) 587780024 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215595182 215595201 na na 133182 duplication NM_000465.3(BARD1):c.1935_1954dup20 (p.Glu652Valfs) 587780024 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214730458 214730477 na na 133183 single nucleotide variant NM_000465.3(BARD1):c.1961C>T (p.Pro654Leu) 587780025 MedGen:CN169374 2 215595175 215595175 G A 133183 single nucleotide variant NM_000465.3(BARD1):c.1961C>T (p.Pro654Leu) 587780025 MedGen:CN169374 2 214730451 214730451 G A 133184 single nucleotide variant NM_000465.3(BARD1):c.1977A>G (p.Arg659=) 147215925 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215595159 215595159 T C 133184 single nucleotide variant NM_000465.3(BARD1):c.1977A>G (p.Arg659=) 147215925 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214730435 214730435 T C 133185 single nucleotide variant NM_000465.3(BARD1):c.1994A>G (p.Glu665Gly) 587780026 MedGen:CN169374 2 215595142 215595142 T C 133185 single nucleotide variant NM_000465.3(BARD1):c.1994A>G (p.Glu665Gly) 587780026 MedGen:CN169374 2 214730418 214730418 T C 133186 single nucleotide variant NM_000465.3(BARD1):c.2002-12T>G 587780027 MedGen:CN169374 2 215593744 215593744 A C 133186 single nucleotide variant NM_000465.3(BARD1):c.2002-12T>G 587780027 MedGen:CN169374 2 214729020 214729020 A C 133187 single nucleotide variant NM_000465.3(BARD1):c.2116A>G (p.Lys706Glu) 149262370 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215593618 215593618 T C 133187 single nucleotide variant NM_000465.3(BARD1):c.2116A>G (p.Lys706Glu) 149262370 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214728894 214728894 T C 133188 single nucleotide variant NM_000465.3(BARD1):c.2123A>G (p.Lys708Arg) 372160908 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215593611 215593611 T C 133188 single nucleotide variant NM_000465.3(BARD1):c.2123A>G (p.Lys708Arg) 372160908 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214728887 214728887 T C 133189 single nucleotide variant NM_000465.3(BARD1):c.2191C>G (p.Arg731Gly) 76744638 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215593543 215593543 G C 133189 single nucleotide variant NM_000465.3(BARD1):c.2191C>G (p.Arg731Gly) 76744638 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214728819 214728819 G C 133190 single nucleotide variant NM_000465.3(BARD1):c.2207A>T (p.Tyr736Phe) 587780028 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 2 215593527 215593527 T A 133190 single nucleotide variant NM_000465.3(BARD1):c.2207A>T (p.Tyr736Phe) 587780028 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 2 214728803 214728803 T A 133191 single nucleotide variant NM_000465.3(BARD1):c.2221G>T (p.Asp741Tyr) 587780029 MedGen:CN169374 2 215593513 215593513 C A 133191 single nucleotide variant NM_000465.3(BARD1):c.2221G>T (p.Asp741Tyr) 587780029 MedGen:CN169374 2 214728789 214728789 C A 133192 single nucleotide variant NM_000465.3(BARD1):c.2282G>A (p.Ser761Asn) 142155101 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C1333600;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215593452 215593452 C T 133192 single nucleotide variant NM_000465.3(BARD1):c.2282G>A (p.Ser761Asn) 142155101 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C1333600;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214728728 214728728 C T 133193 single nucleotide variant NM_000465.3(BARD1):c.2291T>C (p.Ile764Thr) 587780030 MedGen:CN169374 2 215593443 215593443 A G 133193 single nucleotide variant NM_000465.3(BARD1):c.2291T>C (p.Ile764Thr) 587780030 MedGen:CN169374 2 214728719 214728719 A G 133194 single nucleotide variant NM_000465.3(BARD1):c.33G>T (p.Gln11His) 143914387 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215674261 215674261 C A 133194 single nucleotide variant NM_000465.3(BARD1):c.33G>T (p.Gln11His) 143914387 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214809537 214809537 C A 133195 single nucleotide variant NM_000465.3(BARD1):c.353A>G (p.Asn118Ser) 142864491 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215657032 215657032 T C 133195 single nucleotide variant NM_000465.3(BARD1):c.353A>G (p.Asn118Ser) 142864491 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214792308 214792308 T C 133196 single nucleotide variant NM_000465.3(BARD1):c.3G>A (p.Met1Ile) 587780031 MedGen:CN221809 2 215674291 215674291 C T 133196 single nucleotide variant NM_000465.3(BARD1):c.3G>A (p.Met1Ile) 587780031 MedGen:CN221809 2 214809567 214809567 C T 133197 single nucleotide variant NM_000465.3(BARD1):c.54C>G (p.Asn18Lys) 587780032 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215674240 215674240 G C 133197 single nucleotide variant NM_000465.3(BARD1):c.54C>G (p.Asn18Lys) 587780032 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214809516 214809516 G C 133198 single nucleotide variant NM_000465.3(BARD1):c.620A>G (p.Lys207Arg) 34969857 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215645978 215645978 T C 133198 single nucleotide variant NM_000465.3(BARD1):c.620A>G (p.Lys207Arg) 34969857 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214781254 214781254 T C 133199 duplication NM_000465.3(BARD1):c.623dupA (p.Lys209Glufs) 587780033 MedGen:C0027672,SNOMED CT:C0027672 2 215645975 215645975 T TT 133199 duplication NM_000465.3(BARD1):c.623dupA (p.Lys209Glufs) 587780033 MedGen:C0027672,SNOMED CT:C0027672 2 214781251 214781251 T TT 133200 single nucleotide variant NM_000465.3(BARD1):c.668A>G (p.Glu223Gly) 145009419 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215645930 215645930 T C 133200 single nucleotide variant NM_000465.3(BARD1):c.668A>G (p.Glu223Gly) 145009419 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214781206 214781206 T C 133201 single nucleotide variant NM_000465.3(BARD1):c.690C>G (p.Asp230Glu) 587780034 MedGen:CN169374 2 215645908 215645908 G C 133201 single nucleotide variant NM_000465.3(BARD1):c.690C>G (p.Asp230Glu) 587780034 MedGen:CN169374 2 214781184 214781184 G C 133202 single nucleotide variant NM_000465.3(BARD1):c.709C>G (p.Gln237Glu) 587780035 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215645889 215645889 G C 133202 single nucleotide variant NM_000465.3(BARD1):c.709C>G (p.Gln237Glu) 587780035 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214781165 214781165 G C 133203 single nucleotide variant NM_000465.3(BARD1):c.716T>A (p.Leu239Gln) 200359745 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215645882 215645882 A T 133203 single nucleotide variant NM_000465.3(BARD1):c.716T>A (p.Leu239Gln) 200359745 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214781158 214781158 A T 133204 single nucleotide variant NM_000465.3(BARD1):c.776A>G (p.Asp259Gly) 587780036 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215645822 215645822 T C 133204 single nucleotide variant NM_000465.3(BARD1):c.776A>G (p.Asp259Gly) 587780036 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214781098 214781098 T C 133205 single nucleotide variant NM_000465.3(BARD1):c.79G>C (p.Glu27Gln) 587780037 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215674215 215674215 C G 133205 single nucleotide variant NM_000465.3(BARD1):c.79G>C (p.Glu27Gln) 587780037 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214809491 214809491 C G 133206 single nucleotide variant NM_000465.3(BARD1):c.841C>T (p.Pro281Ser) 200059956 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 2 215645757 215645757 G A 133206 single nucleotide variant NM_000465.3(BARD1):c.841C>T (p.Pro281Ser) 200059956 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 2 214781033 214781033 G A 133207 single nucleotide variant NM_000465.3(BARD1):c.976A>G (p.Asn326Asp) 587780038 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215645622 215645622 T C 133207 single nucleotide variant NM_000465.3(BARD1):c.976A>G (p.Asn326Asp) 587780038 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214780898 214780898 T C 140199 single nucleotide variant NM_000465.3(BARD1):c.609A>C (p.Gly203=) 28997574 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215645989 215645989 T G 140199 single nucleotide variant NM_000465.3(BARD1):c.609A>C (p.Gly203=) 28997574 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214781265 214781265 T G 140200 single nucleotide variant NM_000465.3(BARD1):c.722C>G (p.Ser241Cys) 3738885 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215645876 215645876 G C 140200 single nucleotide variant NM_000465.3(BARD1):c.722C>G (p.Ser241Cys) 3738885 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214781152 214781152 G C 140201 single nucleotide variant NM_000465.3(BARD1):c.738A>G (p.Pro246=) 587780859 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215645860 215645860 T C 140201 single nucleotide variant NM_000465.3(BARD1):c.738A>G (p.Pro246=) 587780859 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214781136 214781136 T C 140202 single nucleotide variant NM_000465.3(BARD1):c.1738G>A (p.Glu580Lys) 35306212 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215610518 215610518 C T 140202 single nucleotide variant NM_000465.3(BARD1):c.1738G>A (p.Glu580Lys) 35306212 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214745794 214745794 C T 140203 single nucleotide variant NM_000465.3(BARD1):c.1972C>T (p.Arg658Cys) 3738888 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215595164 215595164 G A 140203 single nucleotide variant NM_000465.3(BARD1):c.1972C>T (p.Arg658Cys) 3738888 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214730440 214730440 G A 140204 single nucleotide variant NM_000465.3(BARD1):c.2212A>G (p.Ile738Val) 61754118 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215593522 215593522 T C 140204 single nucleotide variant NM_000465.3(BARD1):c.2212A>G (p.Ile738Val) 61754118 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214728798 214728798 T C 150471 single nucleotide variant NM_000465.3(BARD1):c.1519G>A (p.Val507Met) 2070094 MedGen:CN221572;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215632255 215632255 C T 150471 single nucleotide variant NM_000465.3(BARD1):c.1519G>A (p.Val507Met) 2070094 MedGen:CN221572;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214767531 214767531 C T 150485 single nucleotide variant NM_000465.3(BARD1):c.1568+15G>T 145936354 MedGen:C0027672,SNOMED CT:C0027672 2 214767467 214767467 C A 150485 single nucleotide variant NM_000465.3(BARD1):c.1568+15G>T 145936354 MedGen:C0027672,SNOMED CT:C0027672 2 215632191 215632191 C A 150509 deletion NM_000465.3(BARD1):c.1075_1095del21 (p.Leu359_Pro365del) 28997575 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214780779 214780799 na na 150509 deletion NM_000465.3(BARD1):c.1075_1095del21 (p.Leu359_Pro365del) 28997575 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215645503 215645523 na na 150556 single nucleotide variant NM_000465.3(BARD1):c.1013C>A (p.Thr338Asn) 587781313 MedGen:C0027672,SNOMED CT:C0027672 2 215645585 215645585 G T 150529 deletion NM_000465.3(BARD1):c.27_41delCCGGCAGCCGAGGAT (p.Gln11_Arg15del) 587781297 MedGen:C0027672,SNOMED CT:C0027672 2 214809529 214809543 ATCCTCGGCTGCCGG - 150529 deletion NM_000465.3(BARD1):c.27_41delCCGGCAGCCGAGGAT (p.Gln11_Arg15del) 587781297 MedGen:C0027672,SNOMED CT:C0027672 2 215674253 215674267 ATCCTCGGCTGCCGG - 150556 single nucleotide variant NM_000465.3(BARD1):c.1013C>A (p.Thr338Asn) 587781313 MedGen:C0027672,SNOMED CT:C0027672 2 214780861 214780861 G T 150559 single nucleotide variant NM_000465.3(BARD1):c.2076T>G (p.Ile692Met) 587781316 MedGen:C0027672,SNOMED CT:C0027672 2 214728934 214728934 A C 150559 single nucleotide variant NM_000465.3(BARD1):c.2076T>G (p.Ile692Met) 587781316 MedGen:C0027672,SNOMED CT:C0027672 2 215593658 215593658 A C 150584 single nucleotide variant NM_000465.3(BARD1):c.1481A>G (p.Asn494Ser) 587781334 MedGen:C0027672,SNOMED CT:C0027672 2 215632293 215632293 T C 150584 single nucleotide variant NM_000465.3(BARD1):c.1481A>G (p.Asn494Ser) 587781334 MedGen:C0027672,SNOMED CT:C0027672 2 214767569 214767569 T C 150589 single nucleotide variant NM_000465.3(BARD1):c.773T>C (p.Ile258Thr) 146223579 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215645825 215645825 A G 150589 single nucleotide variant NM_000465.3(BARD1):c.773T>C (p.Ile258Thr) 146223579 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214781101 214781101 A G 150641 single nucleotide variant NM_000465.3(BARD1):c.1915T>C (p.Cys639Arg) 587781376 MedGen:CN221572;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215595221 215595221 A G 150641 single nucleotide variant NM_000465.3(BARD1):c.1915T>C (p.Cys639Arg) 587781376 MedGen:CN221572;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214730497 214730497 A G 150688 single nucleotide variant NM_000465.3(BARD1):c.160A>G (p.Thr54Ala) 200254470 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214797116 214797116 T C 150688 single nucleotide variant NM_000465.3(BARD1):c.160A>G (p.Thr54Ala) 200254470 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215661840 215661840 T C 150719 single nucleotide variant NM_000465.3(BARD1):c.733C>T (p.Gln245Ter) 587781430 MedGen:C0027672,SNOMED CT:C0027672 2 214781141 214781141 G A 150719 single nucleotide variant NM_000465.3(BARD1):c.733C>T (p.Gln245Ter) 587781430 MedGen:C0027672,SNOMED CT:C0027672 2 215645865 215645865 G A 150741 single nucleotide variant NM_000465.3(BARD1):c.1877A>G (p.Asn626Ser) 587781443 MedGen:C0027672,SNOMED CT:C0027672 2 214745093 214745093 T C 150741 single nucleotide variant NM_000465.3(BARD1):c.1877A>G (p.Asn626Ser) 587781443 MedGen:C0027672,SNOMED CT:C0027672 2 215609817 215609817 T C 150749 single nucleotide variant NM_000465.3(BARD1):c.1067A>T (p.Asn356Ile) 577834428 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214780807 214780807 T A 150749 single nucleotide variant NM_000465.3(BARD1):c.1067A>T (p.Asn356Ile) 577834428 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215645531 215645531 T A 150764 single nucleotide variant NM_000465.3(BARD1):c.2161G>A (p.Ala721Thr) 554708247 MedGen:C0027672,SNOMED CT:C0027672 2 214728849 214728849 C T 150764 single nucleotide variant NM_000465.3(BARD1):c.2161G>A (p.Ala721Thr) 554708247 MedGen:C0027672,SNOMED CT:C0027672 2 215593573 215593573 C T 150765 single nucleotide variant NM_000465.3(BARD1):c.835T>C (p.Ser279Pro) 587781456 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214781039 214781039 A G 150765 single nucleotide variant NM_000465.3(BARD1):c.835T>C (p.Ser279Pro) 587781456 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215645763 215645763 A G 150833 single nucleotide variant NM_000465.3(BARD1):c.1580G>C (p.Gly527Ala) 587781507 MedGen:C0027672,SNOMED CT:C0027672 2 215617268 215617268 C G 150833 single nucleotide variant NM_000465.3(BARD1):c.1580G>C (p.Gly527Ala) 587781507 MedGen:C0027672,SNOMED CT:C0027672 2 214752544 214752544 C G 150848 single nucleotide variant NM_000465.3(BARD1):c.587A>G (p.Lys196Arg) 587781520 MedGen:C0027672,SNOMED CT:C0027672 2 215646011 215646011 T C 150848 single nucleotide variant NM_000465.3(BARD1):c.587A>G (p.Lys196Arg) 587781520 MedGen:C0027672,SNOMED CT:C0027672 2 214781287 214781287 T C 150892 single nucleotide variant NM_000465.3(BARD1):c.1070T>C (p.Ile357Thr) 587781555 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215645528 215645528 A G 150892 single nucleotide variant NM_000465.3(BARD1):c.1070T>C (p.Ile357Thr) 587781555 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214780804 214780804 A G 150915 single nucleotide variant NM_000465.3(BARD1):c.76A>G (p.Met26Val) 587781570 MedGen:C0027672,SNOMED CT:C0027672 2 215674218 215674218 T C 150915 single nucleotide variant NM_000465.3(BARD1):c.76A>G (p.Met26Val) 587781570 MedGen:C0027672,SNOMED CT:C0027672 2 214809494 214809494 T C 150941 single nucleotide variant NM_000465.3(BARD1):c.335G>A (p.Arg112Gln) 587781591 MedGen:C0027672,SNOMED CT:C0027672 2 215657050 215657050 C T 150941 single nucleotide variant NM_000465.3(BARD1):c.335G>A (p.Arg112Gln) 587781591 MedGen:C0027672,SNOMED CT:C0027672 2 214792326 214792326 C T 150943 single nucleotide variant NM_000465.3(BARD1):c.1694G>T (p.Arg565Leu) 146946984 MedGen:C0027672,SNOMED CT:C0027672 2 215610562 215610562 C A 150943 single nucleotide variant NM_000465.3(BARD1):c.1694G>T (p.Arg565Leu) 146946984 MedGen:C0027672,SNOMED CT:C0027672 2 214745838 214745838 C A 150953 single nucleotide variant NM_000465.3(BARD1):c.1108C>T (p.Arg370Cys) 587781596 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215645490 215645490 G A 150953 single nucleotide variant NM_000465.3(BARD1):c.1108C>T (p.Arg370Cys) 587781596 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214780766 214780766 G A 150984 single nucleotide variant NM_000465.3(BARD1):c.1376A>G (p.His459Arg) 587781621 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215633975 215633975 T C 150984 single nucleotide variant NM_000465.3(BARD1):c.1376A>G (p.His459Arg) 587781621 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214769251 214769251 T C 151056 deletion NM_000465.3(BARD1):c.657_660delTTTA (p.Asn219Lysfs) 587781671 MedGen:C0027672,SNOMED CT:C0027672 2 215645938 215645941 TAAA - 151056 deletion NM_000465.3(BARD1):c.657_660delTTTA (p.Asn219Lysfs) 587781671 MedGen:C0027672,SNOMED CT:C0027672 2 214781214 214781217 TAAA - 151098 single nucleotide variant NM_000465.3(BARD1):c.1652C>G (p.Ser551Ter) 587781707 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 2 215617196 215617196 G C 151098 single nucleotide variant NM_000465.3(BARD1):c.1652C>G (p.Ser551Ter) 587781707 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 2 214752472 214752472 G C 151104 single nucleotide variant NM_000465.3(BARD1):c.38G>A (p.Arg13Lys) 587781713 MedGen:C0027672,SNOMED CT:C0027672 2 215674256 215674256 C T 151104 single nucleotide variant NM_000465.3(BARD1):c.38G>A (p.Arg13Lys) 587781713 MedGen:C0027672,SNOMED CT:C0027672 2 214809532 214809532 C T 151126 single nucleotide variant NM_000465.3(BARD1):c.947T>G (p.Leu316Ter) 587781728 MedGen:C0027672,SNOMED CT:C0027672 2 215645651 215645651 A C 151126 single nucleotide variant NM_000465.3(BARD1):c.947T>G (p.Leu316Ter) 587781728 MedGen:C0027672,SNOMED CT:C0027672 2 214780927 214780927 A C 151226 single nucleotide variant NM_000465.3(BARD1):c.438G>T (p.Trp146Cys) 587781806 MedGen:C0027672,SNOMED CT:C0027672 2 214781436 214781436 C A 151226 single nucleotide variant NM_000465.3(BARD1):c.438G>T (p.Trp146Cys) 587781806 MedGen:C0027672,SNOMED CT:C0027672 2 215646160 215646160 C A 151322 single nucleotide variant NM_000465.3(BARD1):c.1448A>G (p.His483Arg) 587781874 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214767602 214767602 T C 151322 single nucleotide variant NM_000465.3(BARD1):c.1448A>G (p.His483Arg) 587781874 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215632326 215632326 T C 151338 single nucleotide variant NM_000465.3(BARD1):c.1571A>G (p.Asn524Ser) 587781887 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214752553 214752553 T C 151338 single nucleotide variant NM_000465.3(BARD1):c.1571A>G (p.Asn524Ser) 587781887 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215617277 215617277 T C 151416 single nucleotide variant NM_000465.3(BARD1):c.1921C>T (p.Arg641Ter) 587781948 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 2 214730491 214730491 G A 151416 single nucleotide variant NM_000465.3(BARD1):c.1921C>T (p.Arg641Ter) 587781948 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 2 215595215 215595215 G A 151447 single nucleotide variant NM_000465.3(BARD1):c.1298A>G (p.His433Arg) 587781970 MedGen:C0027672,SNOMED CT:C0027672 2 215645300 215645300 T C 151447 single nucleotide variant NM_000465.3(BARD1):c.1298A>G (p.His433Arg) 587781970 MedGen:C0027672,SNOMED CT:C0027672 2 214780576 214780576 T C 151453 single nucleotide variant NM_000465.3(BARD1):c.1409A>G (p.Asn470Ser) 587781976 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215632365 215632365 T C 151453 single nucleotide variant NM_000465.3(BARD1):c.1409A>G (p.Asn470Ser) 587781976 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214767641 214767641 T C 151459 deletion NM_000465.3(BARD1):c.26_40delACCGGCAGCCGAGGA (p.Asn9_Arg13del) 587781979 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215674254 215674268 TCCTCGGCTGCCGGT - 151459 deletion NM_000465.3(BARD1):c.26_40delACCGGCAGCCGAGGA (p.Asn9_Arg13del) 587781979 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214809530 214809544 TCCTCGGCTGCCGGT - 151487 single nucleotide variant NM_000465.3(BARD1):c.1475A>G (p.Tyr492Cys) 587782000 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215632299 215632299 T C 151487 single nucleotide variant NM_000465.3(BARD1):c.1475A>G (p.Tyr492Cys) 587782000 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214767575 214767575 T C 151491 single nucleotide variant NM_000465.3(BARD1):c.1471G>A (p.Gly491Arg) 587782003 MedGen:C0027672,SNOMED CT:C0027672 2 215632303 215632303 C T 151491 single nucleotide variant NM_000465.3(BARD1):c.1471G>A (p.Gly491Arg) 587782003 MedGen:C0027672,SNOMED CT:C0027672 2 214767579 214767579 C T 151498 single nucleotide variant NM_000465.3(BARD1):c.1615A>G (p.Met539Val) 587782009 MedGen:C0027672,SNOMED CT:C0027672 2 215617233 215617233 T C 151498 single nucleotide variant NM_000465.3(BARD1):c.1615A>G (p.Met539Val) 587782009 MedGen:C0027672,SNOMED CT:C0027672 2 214752509 214752509 T C 151543 single nucleotide variant NM_000465.3(BARD1):c.1406G>A (p.Cys469Tyr) 587782040 MedGen:C0027672,SNOMED CT:C0027672 2 215632368 215632368 C T 151543 single nucleotide variant NM_000465.3(BARD1):c.1406G>A (p.Cys469Tyr) 587782040 MedGen:C0027672,SNOMED CT:C0027672 2 214767644 214767644 C T 151550 deletion NM_000465.3(BARD1):c.2324_2325delTT (p.Leu775Argfs) 587782046 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215593409 215593410 AA - 151550 deletion NM_000465.3(BARD1):c.2324_2325delTT (p.Leu775Argfs) 587782046 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214728685 214728686 AA - 151587 single nucleotide variant NM_000465.3(BARD1):c.1216C>G (p.Arg406Gly) 377153250 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214780658 214780658 G C 151587 single nucleotide variant NM_000465.3(BARD1):c.1216C>G (p.Arg406Gly) 377153250 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215645382 215645382 G C 151643 single nucleotide variant NM_000465.3(BARD1):c.1793C>T (p.Thr598Ile) 376256852 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215610463 215610463 G A 151643 single nucleotide variant NM_000465.3(BARD1):c.1793C>T (p.Thr598Ile) 376256852 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214745739 214745739 G A 151649 single nucleotide variant NM_000465.3(BARD1):c.1672T>C (p.Ser558Pro) 587782122 MedGen:C0027672,SNOMED CT:C0027672 2 214752452 214752452 A G 151649 single nucleotide variant NM_000465.3(BARD1):c.1672T>C (p.Ser558Pro) 587782122 MedGen:C0027672,SNOMED CT:C0027672 2 215617176 215617176 A G 151651 single nucleotide variant NM_000465.3(BARD1):c.2083G>A (p.Val695Ile) 111367604 MedGen:C0027672,SNOMED CT:C0027672 2 214728927 214728927 C T 151651 single nucleotide variant NM_000465.3(BARD1):c.2083G>A (p.Val695Ile) 111367604 MedGen:C0027672,SNOMED CT:C0027672 2 215593651 215593651 C T 151721 deletion NM_000465.3(BARD1):c.216-14del 56130510 MedGen:CN221572;MedGen:C0027672,SNOMED CT:C0027672 2 214792459 214792459 A - 151721 deletion NM_000465.3(BARD1):c.216-14del 56130510 MedGen:CN221572;MedGen:C0027672,SNOMED CT:C0027672 2 215657183 215657183 A - 151739 single nucleotide variant NM_000465.3(BARD1):c.1053G>C (p.Thr351=) 2070096 MedGen:CN221572;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214780821 214780821 C G 151739 single nucleotide variant NM_000465.3(BARD1):c.1053G>C (p.Thr351=) 2070096 MedGen:CN221572;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215645545 215645545 C G 151817 single nucleotide variant NM_000465.3(BARD1):c.1863G>T (p.Met621Ile) 587782235 MedGen:C0027672,SNOMED CT:C0027672 2 215609831 215609831 C A 151817 single nucleotide variant NM_000465.3(BARD1):c.1863G>T (p.Met621Ile) 587782235 MedGen:C0027672,SNOMED CT:C0027672 2 214745107 214745107 C A 151831 single nucleotide variant NM_000465.3(BARD1):c.2252G>A (p.Arg751Gln) 587782246 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215593482 215593482 C T 151831 single nucleotide variant NM_000465.3(BARD1):c.2252G>A (p.Arg751Gln) 587782246 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214728758 214728758 C T 151833 single nucleotide variant NM_000465.3(BARD1):c.2192G>A (p.Arg731His) 587782248 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215593542 215593542 C T 151833 single nucleotide variant NM_000465.3(BARD1):c.2192G>A (p.Arg731His) 587782248 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214728818 214728818 C T 151837 single nucleotide variant NM_000465.3(BARD1):c.1868G>A (p.Gly623Glu) 587782252 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215609826 215609826 C T 151837 single nucleotide variant NM_000465.3(BARD1):c.1868G>A (p.Gly623Glu) 587782252 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214745102 214745102 C T 151849 single nucleotide variant NM_000465.3(BARD1):c.1933T>C (p.Cys645Arg) 2228456 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215595203 215595203 A G 151849 single nucleotide variant NM_000465.3(BARD1):c.1933T>C (p.Cys645Arg) 2228456 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214730479 214730479 A G 151870 single nucleotide variant NM_000465.3(BARD1):c.346C>T (p.His116Tyr) 144856889 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214792315 214792315 G A 151870 single nucleotide variant NM_000465.3(BARD1):c.346C>T (p.His116Tyr) 144856889 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215657039 215657039 G A 151884 single nucleotide variant NM_000465.3(BARD1):c.1693C>T (p.Arg565Cys) 587782279 MedGen:C0027672,SNOMED CT:C0027672 2 215610563 215610563 G A 151884 single nucleotide variant NM_000465.3(BARD1):c.1693C>T (p.Arg565Cys) 587782279 MedGen:C0027672,SNOMED CT:C0027672 2 214745839 214745839 G A 151898 single nucleotide variant NM_000465.3(BARD1):c.568G>A (p.Asp190Asn) 369561166 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215646030 215646030 C T 151898 single nucleotide variant NM_000465.3(BARD1):c.568G>A (p.Asp190Asn) 369561166 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214781306 214781306 C T 151930 single nucleotide variant NM_000465.3(BARD1):c.308G>A (p.Ser103Asn) 145629242 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215657077 215657077 C T 151930 single nucleotide variant NM_000465.3(BARD1):c.308G>A (p.Ser103Asn) 145629242 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214792353 214792353 C T 151939 single nucleotide variant NM_000465.3(BARD1):c.659T>C (p.Leu220Ser) 138593305 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214781215 214781215 A G 151939 single nucleotide variant NM_000465.3(BARD1):c.659T>C (p.Leu220Ser) 138593305 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215645939 215645939 A G 151947 single nucleotide variant NM_000465.3(BARD1):c.946T>G (p.Leu316Val) 587782325 MedGen:C0027672,SNOMED CT:C0027672 2 215645652 215645652 A C 151947 single nucleotide variant NM_000465.3(BARD1):c.946T>G (p.Leu316Val) 587782325 MedGen:C0027672,SNOMED CT:C0027672 2 214780928 214780928 A C 151961 single nucleotide variant NM_000465.3(BARD1):c.1127C>T (p.Ser376Leu) 587782333 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215645471 215645471 G A 151961 single nucleotide variant NM_000465.3(BARD1):c.1127C>T (p.Ser376Leu) 587782333 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214780747 214780747 G A 151981 single nucleotide variant NM_000465.3(BARD1):c.2101C>G (p.Gln701Glu) 587782348 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215593633 215593633 G C 151981 single nucleotide variant NM_000465.3(BARD1):c.2101C>G (p.Gln701Glu) 587782348 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214728909 214728909 G C 152050 single nucleotide variant NM_000465.3(BARD1):c.1835A>T (p.Asp612Val) 201140528 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215609859 215609859 T A 152050 single nucleotide variant NM_000465.3(BARD1):c.1835A>T (p.Asp612Val) 201140528 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214745135 214745135 T A 152054 single nucleotide variant NM_000465.3(BARD1):c.415A>G (p.Lys139Glu) 587782395 MedGen:C0027672,SNOMED CT:C0027672 2 214781459 214781459 T C 152054 single nucleotide variant NM_000465.3(BARD1):c.415A>G (p.Lys139Glu) 587782395 MedGen:C0027672,SNOMED CT:C0027672 2 215646183 215646183 T C 152087 single nucleotide variant NM_000465.3(BARD1):c.2104A>G (p.Ile702Val) 587782415 MedGen:C0027672,SNOMED CT:C0027672 2 214728906 214728906 T C 152087 single nucleotide variant NM_000465.3(BARD1):c.2104A>G (p.Ile702Val) 587782415 MedGen:C0027672,SNOMED CT:C0027672 2 215593630 215593630 T C 152114 single nucleotide variant NM_000465.3(BARD1):c.1153G>T (p.Asp385Tyr) 587782436 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215645445 215645445 C A 152114 single nucleotide variant NM_000465.3(BARD1):c.1153G>T (p.Asp385Tyr) 587782436 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214780721 214780721 C A 152115 single nucleotide variant NM_000465.3(BARD1):c.614A>G (p.Lys205Arg) 587782437 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215645984 215645984 T C 152115 single nucleotide variant NM_000465.3(BARD1):c.614A>G (p.Lys205Arg) 587782437 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214781260 214781260 T C 152150 single nucleotide variant NM_000465.3(BARD1):c.97G>C (p.Ala33Pro) 587782465 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214809473 214809473 C G 152150 single nucleotide variant NM_000465.3(BARD1):c.97G>C (p.Ala33Pro) 587782465 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215674197 215674197 C G 152164 single nucleotide variant NM_000465.3(BARD1):c.253G>T (p.Val85Leu) 370359540 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214792408 214792408 C A 152164 single nucleotide variant NM_000465.3(BARD1):c.253G>T (p.Val85Leu) 370359540 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215657132 215657132 C A 152165 single nucleotide variant NM_000465.3(BARD1):c.1967G>A (p.Gly656Asp) 572554455 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214730445 214730445 C T 152165 single nucleotide variant NM_000465.3(BARD1):c.1967G>A (p.Gly656Asp) 572554455 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215595169 215595169 C T 152168 single nucleotide variant NM_000465.3(BARD1):c.1054G>C (p.Val352Leu) 587782475 MedGen:C0027672,SNOMED CT:C0027672 2 215645544 215645544 C G 152168 single nucleotide variant NM_000465.3(BARD1):c.1054G>C (p.Val352Leu) 587782475 MedGen:C0027672,SNOMED CT:C0027672 2 214780820 214780820 C G 152170 single nucleotide variant NM_000465.3(BARD1):c.2129A>T (p.Asp710Val) 150121935 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215593605 215593605 T A 152170 single nucleotide variant NM_000465.3(BARD1):c.2129A>T (p.Asp710Val) 150121935 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214728881 214728881 T A 152181 single nucleotide variant NM_000465.3(BARD1):c.575C>A (p.Ser192Tyr) 587782482 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215646023 215646023 G T 152181 single nucleotide variant NM_000465.3(BARD1):c.575C>A (p.Ser192Tyr) 587782482 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214781299 214781299 G T 152203 single nucleotide variant NM_000465.3(BARD1):c.14G>C (p.Arg5Pro) 587782499 MedGen:C0027672,SNOMED CT:C0027672 2 214809556 214809556 C G 152203 single nucleotide variant NM_000465.3(BARD1):c.14G>C (p.Arg5Pro) 587782499 MedGen:C0027672,SNOMED CT:C0027672 2 215674280 215674280 C G 152213 deletion NM_000465.3(BARD1):c.1932_1933delAT (p.Cys645Terfs) 587782504 MedGen:C0027672,SNOMED CT:C0027672 2 214730479 214730480 AT - 152213 deletion NM_000465.3(BARD1):c.1932_1933delAT (p.Cys645Terfs) 587782504 MedGen:C0027672,SNOMED CT:C0027672 2 215595203 215595204 AT - 152259 single nucleotide variant NM_000465.3(BARD1):c.1975A>G (p.Arg659Gly) 587782534 MedGen:C0027672,SNOMED CT:C0027672 2 215595161 215595161 T C 152259 single nucleotide variant NM_000465.3(BARD1):c.1975A>G (p.Arg659Gly) 587782534 MedGen:C0027672,SNOMED CT:C0027672 2 214730437 214730437 T C 152278 single nucleotide variant NM_000465.3(BARD1):c.1180A>G (p.Thr394Ala) 587782548 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214780694 214780694 T C 152278 single nucleotide variant NM_000465.3(BARD1):c.1180A>G (p.Thr394Ala) 587782548 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215645418 215645418 T C 152285 single nucleotide variant NM_000465.3(BARD1):c.2075T>C (p.Ile692Thr) 587782555 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214728935 214728935 A G 152285 single nucleotide variant NM_000465.3(BARD1):c.2075T>C (p.Ile692Thr) 587782555 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215593659 215593659 A G 152425 single nucleotide variant NM_000465.3(BARD1):c.2171C>T (p.Ala724Val) 587782662 MedGen:C0027672,SNOMED CT:C0027672 2 214728839 214728839 G A 152425 single nucleotide variant NM_000465.3(BARD1):c.2171C>T (p.Ala724Val) 587782662 MedGen:C0027672,SNOMED CT:C0027672 2 215593563 215593563 G A 152437 single nucleotide variant NM_000465.3(BARD1):c.769G>A (p.Glu257Lys) 587782673 MedGen:C0027672,SNOMED CT:C0027672 2 214781105 214781105 C T 152437 single nucleotide variant NM_000465.3(BARD1):c.769G>A (p.Glu257Lys) 587782673 MedGen:C0027672,SNOMED CT:C0027672 2 215645829 215645829 C T 152442 single nucleotide variant NM_000465.3(BARD1):c.95G>T (p.Gly32Val) 587782675 MedGen:C0027672,SNOMED CT:C0027672 2 214809475 214809475 C A 152442 single nucleotide variant NM_000465.3(BARD1):c.95G>T (p.Gly32Val) 587782675 MedGen:C0027672,SNOMED CT:C0027672 2 215674199 215674199 C A 152448 single nucleotide variant NM_000465.3(BARD1):c.1212C>G (p.Tyr404Ter) 587782681 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 2 214780662 214780662 G C 152448 single nucleotide variant NM_000465.3(BARD1):c.1212C>G (p.Tyr404Ter) 587782681 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 2 215645386 215645386 G C 152483 single nucleotide variant NM_000465.3(BARD1):c.1134G>C (p.Arg378Ser) 2229571 MedGen:CN221572;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214780740 214780740 C G 152483 single nucleotide variant NM_000465.3(BARD1):c.1134G>C (p.Arg378Ser) 2229571 MedGen:CN221572;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215645464 215645464 C G 152566 single nucleotide variant NM_000465.3(BARD1):c.1989C>A (p.Asn663Lys) 587782767 MedGen:C0027672,SNOMED CT:C0027672 2 214730423 214730423 G T 152566 single nucleotide variant NM_000465.3(BARD1):c.1989C>A (p.Asn663Lys) 587782767 MedGen:C0027672,SNOMED CT:C0027672 2 215595147 215595147 G T 152612 single nucleotide variant NM_000465.3(BARD1):c.580A>T (p.Arg194Trp) 587782806 MedGen:C0027672,SNOMED CT:C0027672 2 214781294 214781294 T A 152612 single nucleotide variant NM_000465.3(BARD1):c.580A>T (p.Arg194Trp) 587782806 MedGen:C0027672,SNOMED CT:C0027672 2 215646018 215646018 T A 152624 single nucleotide variant NM_000465.3(BARD1):c.119C>T (p.Ala40Val) 71579841 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214809451 214809451 G A 152624 single nucleotide variant NM_000465.3(BARD1):c.119C>T (p.Ala40Val) 71579841 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215674175 215674175 G A 152656 single nucleotide variant NM_000465.3(BARD1):c.581G>A (p.Arg194Lys) 181748854 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214781293 214781293 C T 152656 single nucleotide variant NM_000465.3(BARD1):c.581G>A (p.Arg194Lys) 181748854 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215646017 215646017 C T 152693 single nucleotide variant NM_000465.3(BARD1):c.103G>A (p.Ala35Thr) 587782865 MedGen:C0027672,SNOMED CT:C0027672 2 214809467 214809467 C T 152693 single nucleotide variant NM_000465.3(BARD1):c.103G>A (p.Ala35Thr) 587782865 MedGen:C0027672,SNOMED CT:C0027672 2 215674191 215674191 C T 152731 deletion NM_000465.3(BARD1):c.1817_1818delAT (p.His606Argfs) 587782897 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 2 215609876 215609877 AT - 152731 deletion NM_000465.3(BARD1):c.1817_1818delAT (p.His606Argfs) 587782897 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 2 214745152 214745153 AT - 179945 single nucleotide variant NM_000465.3(BARD1):c.2279C>G (p.Ser760Trp) 730881425 MedGen:CN169374 2 215593455 215593455 G C 179942 single nucleotide variant NM_000465.3(BARD1):c.2306C>G (p.Ser769Cys) 730881427 MedGen:CN169374 2 214728704 214728704 G C 179942 single nucleotide variant NM_000465.3(BARD1):c.2306C>G (p.Ser769Cys) 730881427 MedGen:CN169374 2 215593428 215593428 G C 179943 single nucleotide variant NM_000465.3(BARD1):c.2304G>C (p.Met768Ile) 730881409 MedGen:C0027672,SNOMED CT:C0027672 2 214728706 214728706 C G 179943 single nucleotide variant NM_000465.3(BARD1):c.2304G>C (p.Met768Ile) 730881409 MedGen:C0027672,SNOMED CT:C0027672 2 215593430 215593430 C G 179944 single nucleotide variant NM_000465.3(BARD1):c.2294A>G (p.Asp765Gly) 730881426 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214728716 214728716 T C 179944 single nucleotide variant NM_000465.3(BARD1):c.2294A>G (p.Asp765Gly) 730881426 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215593440 215593440 T C 179945 single nucleotide variant NM_000465.3(BARD1):c.2279C>G (p.Ser760Trp) 730881425 MedGen:CN169374 2 214728731 214728731 G C 179946 single nucleotide variant NM_000465.3(BARD1):c.2248G>A (p.Val750Ile) 34677017 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214728762 214728762 C T 179946 single nucleotide variant NM_000465.3(BARD1):c.2248G>A (p.Val750Ile) 34677017 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215593486 215593486 C T 179947 single nucleotide variant NM_000465.3(BARD1):c.2179G>A (p.Asp727Asn) 730881424 MedGen:CN169374 2 214728831 214728831 C T 179947 single nucleotide variant NM_000465.3(BARD1):c.2179G>A (p.Asp727Asn) 730881424 MedGen:CN169374 2 215593555 215593555 C T 179948 single nucleotide variant NM_000465.3(BARD1):c.2137G>T (p.Val713Leu) 546077003 MedGen:CN169374 2 214728873 214728873 C A 179948 single nucleotide variant NM_000465.3(BARD1):c.2137G>T (p.Val713Leu) 546077003 MedGen:CN169374 2 215593597 215593597 C A 179949 single nucleotide variant NM_000465.3(BARD1):c.2095G>C (p.Gly699Arg) 730881423 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 2 215593639 215593639 C G 179949 single nucleotide variant NM_000465.3(BARD1):c.2095G>C (p.Gly699Arg) 730881423 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 2 214728915 214728915 C G 179950 single nucleotide variant NM_000465.3(BARD1):c.2002-11C>T 187240320 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214729019 214729019 G A 179950 single nucleotide variant NM_000465.3(BARD1):c.2002-11C>T 187240320 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215593743 215593743 G A 179951 single nucleotide variant NM_000465.3(BARD1):c.1996C>T (p.Gln666Ter) 730881422 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 2 214730416 214730416 G A 179951 single nucleotide variant NM_000465.3(BARD1):c.1996C>T (p.Gln666Ter) 730881422 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 2 215595140 215595140 G A 179952 single nucleotide variant NM_000465.3(BARD1):c.1808C>A (p.Thr603Lys) 730881421 MedGen:CN169374 2 215610448 215610448 G T 179952 single nucleotide variant NM_000465.3(BARD1):c.1808C>A (p.Thr603Lys) 730881421 MedGen:CN169374 2 214745724 214745724 G T 179953 single nucleotide variant NM_000465.3(BARD1):c.1685C>T (p.Thr562Ile) 730881420 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214745847 214745847 G A 179953 single nucleotide variant NM_000465.3(BARD1):c.1685C>T (p.Thr562Ile) 730881420 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215610571 215610571 G A 179954 single nucleotide variant NM_000465.3(BARD1):c.1564G>A (p.Ala522Thr) 730881419 MedGen:CN169374 2 215632210 215632210 C T 179954 single nucleotide variant NM_000465.3(BARD1):c.1564G>A (p.Ala522Thr) 730881419 MedGen:CN169374 2 214767486 214767486 C T 179955 single nucleotide variant NM_000465.3(BARD1):c.1515G>T (p.Gly505=) 139721211 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214767535 214767535 C A 179955 single nucleotide variant NM_000465.3(BARD1):c.1515G>T (p.Gly505=) 139721211 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215632259 215632259 C A 179956 single nucleotide variant NM_000465.3(BARD1):c.1397A>G (p.His466Arg) 730881418 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214767653 214767653 T C 179956 single nucleotide variant NM_000465.3(BARD1):c.1397A>G (p.His466Arg) 730881418 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215632377 215632377 T C 179957 single nucleotide variant NM_000465.3(BARD1):c.1360C>G (p.Pro454Ala) 730881408 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214769267 214769267 G C 179957 single nucleotide variant NM_000465.3(BARD1):c.1360C>G (p.Pro454Ala) 730881408 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215633991 215633991 G C 179958 single nucleotide variant NM_000465.3(BARD1):c.1347A>G (p.Gln449=) 373257776 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214769280 214769280 T C 179958 single nucleotide variant NM_000465.3(BARD1):c.1347A>G (p.Gln449=) 373257776 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215634004 215634004 T C 179959 single nucleotide variant NM_000465.3(BARD1):c.1339C>G (p.Leu447Val) 376727038 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214769288 214769288 G C 179959 single nucleotide variant NM_000465.3(BARD1):c.1339C>G (p.Leu447Val) 376727038 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215634012 215634012 G C 179960 single nucleotide variant NM_000465.3(BARD1):c.1325C>T (p.Pro442Leu) 730881417 MedGen:CN169374 2 214769302 214769302 G A 179960 single nucleotide variant NM_000465.3(BARD1):c.1325C>T (p.Pro442Leu) 730881417 MedGen:CN169374 2 215634026 215634026 G A 179961 single nucleotide variant NM_000465.3(BARD1):c.1109G>A (p.Arg370His) 730881416 MedGen:CN169374 2 214780765 214780765 C T 179961 single nucleotide variant NM_000465.3(BARD1):c.1109G>A (p.Arg370His) 730881416 MedGen:CN169374 2 215645489 215645489 C T 179962 single nucleotide variant NM_000465.3(BARD1):c.1016G>A (p.Ser339Asn) 201261729 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214780858 214780858 C T 179962 single nucleotide variant NM_000465.3(BARD1):c.1016G>A (p.Ser339Asn) 201261729 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215645582 215645582 C T 179963 single nucleotide variant NM_000465.3(BARD1):c.783A>G (p.Leu261=) 201862973 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215645815 215645815 T C 179963 single nucleotide variant NM_000465.3(BARD1):c.783A>G (p.Leu261=) 201862973 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214781091 214781091 T C 179964 single nucleotide variant NM_000465.3(BARD1):c.607G>T (p.Gly203Ter) 730881415 MedGen:CN221809 2 214781267 214781267 C A 179964 single nucleotide variant NM_000465.3(BARD1):c.607G>T (p.Gly203Ter) 730881415 MedGen:CN221809 2 215645991 215645991 C A 179965 single nucleotide variant NM_000465.3(BARD1):c.586A>G (p.Lys196Glu) 376259263 MedGen:CN169374 2 214781288 214781288 T C 179965 single nucleotide variant NM_000465.3(BARD1):c.586A>G (p.Lys196Glu) 376259263 MedGen:CN169374 2 215646012 215646012 T C 179966 single nucleotide variant NM_000465.3(BARD1):c.562C>A (p.Pro188Thr) 373249008 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215646036 215646036 G T 179966 single nucleotide variant NM_000465.3(BARD1):c.562C>A (p.Pro188Thr) 373249008 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214781312 214781312 G T 179967 single nucleotide variant NM_000465.3(BARD1):c.473T>A (p.Val158Glu) 730881414 MedGen:CN169374 2 215646125 215646125 A T 179967 single nucleotide variant NM_000465.3(BARD1):c.473T>A (p.Val158Glu) 730881414 MedGen:CN169374 2 214781401 214781401 A T 179968 single nucleotide variant NM_000465.3(BARD1):c.465A>G (p.Arg155=) 730881413 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214781409 214781409 T C 179968 single nucleotide variant NM_000465.3(BARD1):c.465A>G (p.Arg155=) 730881413 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215646133 215646133 T C 179969 single nucleotide variant NM_000465.3(BARD1):c.449G>A (p.Arg150Gln) 730881412 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214781425 214781425 C T 179969 single nucleotide variant NM_000465.3(BARD1):c.449G>A (p.Arg150Gln) 730881412 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215646149 215646149 C T 179970 single nucleotide variant NM_000465.3(BARD1):c.448C>T (p.Arg150Ter) 730881411 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 2 214781426 214781426 G A 179970 single nucleotide variant NM_000465.3(BARD1):c.448C>T (p.Arg150Ter) 730881411 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 2 215646150 215646150 G A 179971 single nucleotide variant NM_000465.3(BARD1):c.348T>C (p.His116=) 139934362 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214792313 214792313 A G 179971 single nucleotide variant NM_000465.3(BARD1):c.348T>C (p.His116=) 139934362 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215657037 215657037 A G 179972 single nucleotide variant NM_000465.3(BARD1):c.338A>T (p.Asn113Ile) 730881407 MedGen:CN169374 2 214792323 214792323 T A 179972 single nucleotide variant NM_000465.3(BARD1):c.338A>T (p.Asn113Ile) 730881407 MedGen:CN169374 2 215657047 215657047 T A 179973 single nucleotide variant NM_000465.3(BARD1):c.215+12C>T 373816832 MedGen:CN169374 2 214797049 214797049 G A 179973 single nucleotide variant NM_000465.3(BARD1):c.215+12C>T 373816832 MedGen:CN169374 2 215661773 215661773 G A 179974 single nucleotide variant NM_000465.3(BARD1):c.90T>A (p.Gly30=) 150354152 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214809480 214809480 A T 179974 single nucleotide variant NM_000465.3(BARD1):c.90T>A (p.Gly30=) 150354152 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215674204 215674204 A T 179975 indel NM_000465.3(BARD1):c.80_81delAAinsTCGCGGTG (p.Glu27delinsValAlaVal) 730881410 MedGen:C0027672,SNOMED CT:C0027672 2 214809489 214809490 TT CACCGCGA 179975 indel NM_000465.3(BARD1):c.80_81delAAinsTCGCGGTG (p.Glu27delinsValAlaVal) 730881410 MedGen:C0027672,SNOMED CT:C0027672 2 215674213 215674214 TT CACCGCGA 179976 single nucleotide variant NM_000465.3(BARD1):c.57G>A (p.Glu19=) 730881406 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214809513 214809513 C T 179976 single nucleotide variant NM_000465.3(BARD1):c.57G>A (p.Glu19=) 730881406 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215674237 215674237 C T 181128 insertion NM_000465.2:c.365-8insT -1 MedGen:C0027672,SNOMED CT:C0027672 na -1 -1 na na 181748 single nucleotide variant NM_000465.3(BARD1):c.2257G>A (p.Gly753Ser) 786203405 MedGen:C0027672,SNOMED CT:C0027672 2 214728753 214728753 C T 181749 single nucleotide variant NM_000465.3(BARD1):c.2255A>G (p.Gln752Arg) 755369095 MedGen:C0027672,SNOMED CT:C0027672 2 215593479 215593479 T C 181748 single nucleotide variant NM_000465.3(BARD1):c.2257G>A (p.Gly753Ser) 786203405 MedGen:C0027672,SNOMED CT:C0027672 2 215593477 215593477 C T 181745 single nucleotide variant NM_000465.3(BARD1):c.2332T>C (p.Ter778Arg) 786203353 MedGen:C0027672,SNOMED CT:C0027672 2 215593402 215593402 A G 181745 single nucleotide variant NM_000465.3(BARD1):c.2332T>C (p.Ter778Arg) 786203353 MedGen:C0027672,SNOMED CT:C0027672 2 214728678 214728678 A G 181746 single nucleotide variant NM_000465.3(BARD1):c.2280G>A (p.Ser760=) 749959440 MedGen:C0027672,SNOMED CT:C0027672 2 215593454 215593454 C T 181746 single nucleotide variant NM_000465.3(BARD1):c.2280G>A (p.Ser760=) 749959440 MedGen:C0027672,SNOMED CT:C0027672 2 214728730 214728730 C T 181747 single nucleotide variant NM_000465.3(BARD1):c.2268G>A (p.Trp756Ter) 786202118 MedGen:C0027672,SNOMED CT:C0027672 2 215593466 215593466 C T 181747 single nucleotide variant NM_000465.3(BARD1):c.2268G>A (p.Trp756Ter) 786202118 MedGen:C0027672,SNOMED CT:C0027672 2 214728742 214728742 C T 181749 single nucleotide variant NM_000465.3(BARD1):c.2255A>G (p.Gln752Arg) 755369095 MedGen:C0027672,SNOMED CT:C0027672 2 214728755 214728755 T C 181750 single nucleotide variant NM_000465.3(BARD1):c.2253G>T (p.Arg751=) 750001065 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215593481 215593481 C A 181750 single nucleotide variant NM_000465.3(BARD1):c.2253G>T (p.Arg751=) 750001065 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214728757 214728757 C A 181751 single nucleotide variant NM_000465.3(BARD1):c.2253G>A (p.Arg751=) 750001065 MedGen:C0027672,SNOMED CT:C0027672 2 214728757 214728757 C T 181751 single nucleotide variant NM_000465.3(BARD1):c.2253G>A (p.Arg751=) 750001065 MedGen:C0027672,SNOMED CT:C0027672 2 215593481 215593481 C T 181752 single nucleotide variant NM_000465.3(BARD1):c.2235T>C (p.Tyr745=) 747122703 MedGen:C0027672,SNOMED CT:C0027672 2 215593499 215593499 A G 181752 single nucleotide variant NM_000465.3(BARD1):c.2235T>C (p.Tyr745=) 747122703 MedGen:C0027672,SNOMED CT:C0027672 2 214728775 214728775 A G 181753 single nucleotide variant NM_000465.3(BARD1):c.2202A>G (p.Thr734=) 786201370 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215593532 215593532 T C 181753 single nucleotide variant NM_000465.3(BARD1):c.2202A>G (p.Thr734=) 786201370 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214728808 214728808 T C 181754 single nucleotide variant NM_000465.3(BARD1):c.2191C>T (p.Arg731Cys) 76744638 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215593543 215593543 G A 181754 single nucleotide variant NM_000465.3(BARD1):c.2191C>T (p.Arg731Cys) 76744638 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214728819 214728819 G A 181755 single nucleotide variant NM_000465.3(BARD1):c.2172G>T (p.Ala724=) 143331809 MedGen:C0027672,SNOMED CT:C0027672 2 214728838 214728838 C A 181755 single nucleotide variant NM_000465.3(BARD1):c.2172G>T (p.Ala724=) 143331809 MedGen:C0027672,SNOMED CT:C0027672 2 215593562 215593562 C A 181756 single nucleotide variant NM_000465.3(BARD1):c.2169T>C (p.His723=) 779808630 MedGen:C0027672,SNOMED CT:C0027672 2 215593565 215593565 A G 181756 single nucleotide variant NM_000465.3(BARD1):c.2169T>C (p.His723=) 779808630 MedGen:C0027672,SNOMED CT:C0027672 2 214728841 214728841 A G 181757 single nucleotide variant NM_000465.3(BARD1):c.2163A>G (p.Ala721=) 786202805 MedGen:C0027672,SNOMED CT:C0027672 2 215593571 215593571 T C 181757 single nucleotide variant NM_000465.3(BARD1):c.2163A>G (p.Ala721=) 786202805 MedGen:C0027672,SNOMED CT:C0027672 2 214728847 214728847 T C 181758 single nucleotide variant NM_000465.3(BARD1):c.2158G>T (p.Val720Phe) 786203188 MedGen:C0027672,SNOMED CT:C0027672 2 214728852 214728852 C A 181758 single nucleotide variant NM_000465.3(BARD1):c.2158G>T (p.Val720Phe) 786203188 MedGen:C0027672,SNOMED CT:C0027672 2 215593576 215593576 C A 181759 deletion NM_000465.3(BARD1):c.2148_2149delCA (p.Ile717Glnfs) 786203811 MedGen:C0027672,SNOMED CT:C0027672 2 215593585 215593586 TG - 181759 deletion NM_000465.3(BARD1):c.2148_2149delCA (p.Ile717Glnfs) 786203811 MedGen:C0027672,SNOMED CT:C0027672 2 214728861 214728862 TG - 181760 single nucleotide variant NM_000465.3(BARD1):c.2139G>C (p.Val713=) 786203497 MedGen:C0027672,SNOMED CT:C0027672 2 215593595 215593595 C G 181760 single nucleotide variant NM_000465.3(BARD1):c.2139G>C (p.Val713=) 786203497 MedGen:C0027672,SNOMED CT:C0027672 2 214728871 214728871 C G 181761 single nucleotide variant NM_000465.3(BARD1):c.2137G>A (p.Val713Met) 546077003 MedGen:C0027672,SNOMED CT:C0027672 2 215593597 215593597 C T 181761 single nucleotide variant NM_000465.3(BARD1):c.2137G>A (p.Val713Met) 546077003 MedGen:C0027672,SNOMED CT:C0027672 2 214728873 214728873 C T 181762 single nucleotide variant NM_000465.3(BARD1):c.2126C>T (p.Pro709Leu) 786203474 MedGen:C0027672,SNOMED CT:C0027672 2 215593608 215593608 G A 181762 single nucleotide variant NM_000465.3(BARD1):c.2126C>T (p.Pro709Leu) 786203474 MedGen:C0027672,SNOMED CT:C0027672 2 214728884 214728884 G A 181763 single nucleotide variant NM_000465.3(BARD1):c.2091A>T (p.Ala697=) 786201573 MedGen:C0027672,SNOMED CT:C0027672 2 215593643 215593643 T A 181763 single nucleotide variant NM_000465.3(BARD1):c.2091A>T (p.Ala697=) 786201573 MedGen:C0027672,SNOMED CT:C0027672 2 214728919 214728919 T A 181764 single nucleotide variant NM_000465.3(BARD1):c.2082C>T (p.Leu694=) 139620052 MedGen:C0027672,SNOMED CT:C0027672 2 215593652 215593652 G A 181764 single nucleotide variant NM_000465.3(BARD1):c.2082C>T (p.Leu694=) 139620052 MedGen:C0027672,SNOMED CT:C0027672 2 214728928 214728928 G A 181765 single nucleotide variant NM_000465.3(BARD1):c.2015T>C (p.Phe672Ser) 786203617 MedGen:C0027672,SNOMED CT:C0027672 2 215593719 215593719 A G 181765 single nucleotide variant NM_000465.3(BARD1):c.2015T>C (p.Phe672Ser) 786203617 MedGen:C0027672,SNOMED CT:C0027672 2 214728995 214728995 A G 181766 single nucleotide variant NM_000465.3(BARD1):c.2013G>A (p.Leu671=) 759021562 MedGen:C0027672,SNOMED CT:C0027672 2 215593721 215593721 C T 181766 single nucleotide variant NM_000465.3(BARD1):c.2013G>A (p.Leu671=) 759021562 MedGen:C0027672,SNOMED CT:C0027672 2 214728997 214728997 C T 181767 single nucleotide variant NM_000465.3(BARD1):c.1992A>C (p.Arg664Ser) 786202462 MedGen:C0027672,SNOMED CT:C0027672 2 215595144 215595144 T G 181767 single nucleotide variant NM_000465.3(BARD1):c.1992A>C (p.Arg664Ser) 786202462 MedGen:C0027672,SNOMED CT:C0027672 2 214730420 214730420 T G 181768 deletion NM_000465.3(BARD1):c.1970delC (p.Pro657Hisfs) 786203739 MedGen:C0027672,SNOMED CT:C0027672 2 214730442 214730442 G - 181768 deletion NM_000465.3(BARD1):c.1970delC (p.Pro657Hisfs) 786203739 MedGen:C0027672,SNOMED CT:C0027672 2 215595166 215595166 G - 181769 single nucleotide variant NM_000465.3(BARD1):c.1963G>C (p.Glu655Gln) 786203772 MedGen:C0027672,SNOMED CT:C0027672 2 215595173 215595173 C G 181769 single nucleotide variant NM_000465.3(BARD1):c.1963G>C (p.Glu655Gln) 786203772 MedGen:C0027672,SNOMED CT:C0027672 2 214730449 214730449 C G 181770 single nucleotide variant NM_000465.3(BARD1):c.1940A>G (p.Gln647Arg) 786202232 MedGen:C0027672,SNOMED CT:C0027672 2 215595196 215595196 T C 181770 single nucleotide variant NM_000465.3(BARD1):c.1940A>G (p.Gln647Arg) 786202232 MedGen:C0027672,SNOMED CT:C0027672 2 214730472 214730472 T C 181771 single nucleotide variant NM_000465.3(BARD1):c.1920A>G (p.Leu640=) 780901872 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215595216 215595216 T C 181771 single nucleotide variant NM_000465.3(BARD1):c.1920A>G (p.Leu640=) 780901872 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214730492 214730492 T C 181772 single nucleotide variant NM_000465.3(BARD1):c.1904-5G>A 376639978 MedGen:C0027672,SNOMED CT:C0027672 2 215595237 215595237 C T 181772 single nucleotide variant NM_000465.3(BARD1):c.1904-5G>A 376639978 MedGen:C0027672,SNOMED CT:C0027672 2 214730513 214730513 C T 181773 single nucleotide variant NM_000465.3(BARD1):c.1858T>C (p.Cys620Arg) 786203673 MedGen:C0027672,SNOMED CT:C0027672 2 215609836 215609836 A G 181773 single nucleotide variant NM_000465.3(BARD1):c.1858T>C (p.Cys620Arg) 786203673 MedGen:C0027672,SNOMED CT:C0027672 2 214745112 214745112 A G 181774 single nucleotide variant NM_000465.3(BARD1):c.1818T>C (p.His606=) 199590147 MedGen:C0027672,SNOMED CT:C0027672 2 215609876 215609876 A G 181774 single nucleotide variant NM_000465.3(BARD1):c.1818T>C (p.His606=) 199590147 MedGen:C0027672,SNOMED CT:C0027672 2 214745152 214745152 A G 181775 single nucleotide variant NM_000465.3(BARD1):c.1817A>C (p.His606Pro) 786202512 MedGen:C0027672,SNOMED CT:C0027672 2 215609877 215609877 T G 181775 single nucleotide variant NM_000465.3(BARD1):c.1817A>C (p.His606Pro) 786202512 MedGen:C0027672,SNOMED CT:C0027672 2 214745153 214745153 T G 181776 single nucleotide variant NM_000465.3(BARD1):c.1754T>C (p.Leu585Pro) 786201905 MedGen:C0027672,SNOMED CT:C0027672 2 215610502 215610502 A G 181776 single nucleotide variant NM_000465.3(BARD1):c.1754T>C (p.Leu585Pro) 786201905 MedGen:C0027672,SNOMED CT:C0027672 2 214745778 214745778 A G 181777 single nucleotide variant NM_000465.3(BARD1):c.1733C>T (p.Ser578Phe) 786202519 MedGen:C0027672,SNOMED CT:C0027672 2 215610523 215610523 G A 181777 single nucleotide variant NM_000465.3(BARD1):c.1733C>T (p.Ser578Phe) 786202519 MedGen:C0027672,SNOMED CT:C0027672 2 214745799 214745799 G A 181778 single nucleotide variant NM_000465.3(BARD1):c.1635A>G (p.Leu545=) 786203364 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215617213 215617213 T C 181778 single nucleotide variant NM_000465.3(BARD1):c.1635A>G (p.Leu545=) 786203364 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214752489 214752489 T C 181779 single nucleotide variant NM_000465.3(BARD1):c.1633C>T (p.Leu545=) 779307636 MedGen:C0027672,SNOMED CT:C0027672 2 215617215 215617215 G A 181779 single nucleotide variant NM_000465.3(BARD1):c.1633C>T (p.Leu545=) 779307636 MedGen:C0027672,SNOMED CT:C0027672 2 214752491 214752491 G A 181780 single nucleotide variant NM_000465.3(BARD1):c.1626A>G (p.Leu542=) 786201551 MedGen:C0027672,SNOMED CT:C0027672 2 215617222 215617222 T C 181780 single nucleotide variant NM_000465.3(BARD1):c.1626A>G (p.Leu542=) 786201551 MedGen:C0027672,SNOMED CT:C0027672 2 214752498 214752498 T C 181781 single nucleotide variant NM_000465.3(BARD1):c.1613G>A (p.Ser538Asn) 370771157 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215617235 215617235 C T 181781 single nucleotide variant NM_000465.3(BARD1):c.1613G>A (p.Ser538Asn) 370771157 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214752511 214752511 C T 181782 single nucleotide variant NM_000465.3(BARD1):c.1600A>C (p.Thr534Pro) 786202280 MedGen:C0027672,SNOMED CT:C0027672 2 215617248 215617248 T G 181782 single nucleotide variant NM_000465.3(BARD1):c.1600A>C (p.Thr534Pro) 786202280 MedGen:C0027672,SNOMED CT:C0027672 2 214752524 214752524 T G 181783 single nucleotide variant NM_000465.3(BARD1):c.1594G>A (p.Asp532Asn) 757281184 MedGen:C0027672,SNOMED CT:C0027672 2 215617254 215617254 C T 181783 single nucleotide variant NM_000465.3(BARD1):c.1594G>A (p.Asp532Asn) 757281184 MedGen:C0027672,SNOMED CT:C0027672 2 214752530 214752530 C T 181784 single nucleotide variant NM_000465.3(BARD1):c.1587G>A (p.Arg529=) 532444144 MedGen:C0027672,SNOMED CT:C0027672 2 215617261 215617261 C T 181784 single nucleotide variant NM_000465.3(BARD1):c.1587G>A (p.Arg529=) 532444144 MedGen:C0027672,SNOMED CT:C0027672 2 214752537 214752537 C T 181785 single nucleotide variant NM_000465.3(BARD1):c.1586G>A (p.Arg529Gln) 753479021 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215617262 215617262 C T 181785 single nucleotide variant NM_000465.3(BARD1):c.1586G>A (p.Arg529Gln) 753479021 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214752538 214752538 C T 181786 single nucleotide variant NM_000465.3(BARD1):c.1585C>T (p.Arg529Trp) 375515606 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215617263 215617263 G A 181786 single nucleotide variant NM_000465.3(BARD1):c.1585C>T (p.Arg529Trp) 375515606 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214752539 214752539 G A 181787 single nucleotide variant NM_000465.3(BARD1):c.1554C>T (p.Ala518=) 139612775 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215632220 215632220 G A 181787 single nucleotide variant NM_000465.3(BARD1):c.1554C>T (p.Ala518=) 139612775 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214767496 214767496 G A 181788 single nucleotide variant NM_000465.3(BARD1):c.1542T>G (p.Leu514=) 770358347 MedGen:C0027672,SNOMED CT:C0027672 2 215632232 215632232 A C 181788 single nucleotide variant NM_000465.3(BARD1):c.1542T>G (p.Leu514=) 770358347 MedGen:C0027672,SNOMED CT:C0027672 2 214767508 214767508 A C 181789 single nucleotide variant NM_000465.3(BARD1):c.1535T>C (p.Leu512Pro) 786201769 MedGen:C0027672,SNOMED CT:C0027672 2 215632239 215632239 A G 181789 single nucleotide variant NM_000465.3(BARD1):c.1535T>C (p.Leu512Pro) 786201769 MedGen:C0027672,SNOMED CT:C0027672 2 214767515 214767515 A G 181790 single nucleotide variant NM_000465.3(BARD1):c.1518T>C (p.His506=) 2070093 MedGen:CN221572;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215632256 215632256 A G 181790 single nucleotide variant NM_000465.3(BARD1):c.1518T>C (p.His506=) 2070093 MedGen:CN221572;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214767532 214767532 A G 181791 single nucleotide variant NM_000465.3(BARD1):c.1491A>G (p.Pro497=) 61754117 MedGen:C0027672,SNOMED CT:C0027672 2 215632283 215632283 T C 181791 single nucleotide variant NM_000465.3(BARD1):c.1491A>G (p.Pro497=) 61754117 MedGen:C0027672,SNOMED CT:C0027672 2 214767559 214767559 T C 181792 single nucleotide variant NM_000465.3(BARD1):c.1473G>A (p.Gly491=) 151080730 MedGen:C0027672,SNOMED CT:C0027672 2 215632301 215632301 C T 181792 single nucleotide variant NM_000465.3(BARD1):c.1473G>A (p.Gly491=) 151080730 MedGen:C0027672,SNOMED CT:C0027672 2 214767577 214767577 C T 181793 single nucleotide variant NM_000465.3(BARD1):c.1470C>T (p.Thr490=) 758895846 MedGen:C0027672,SNOMED CT:C0027672 2 215632304 215632304 G A 181793 single nucleotide variant NM_000465.3(BARD1):c.1470C>T (p.Thr490=) 758895846 MedGen:C0027672,SNOMED CT:C0027672 2 214767580 214767580 G A 181794 single nucleotide variant NM_000465.3(BARD1):c.1439T>C (p.Leu480Ser) 149839922 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214767611 214767611 A G 181794 single nucleotide variant NM_000465.3(BARD1):c.1439T>C (p.Leu480Ser) 149839922 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215632335 215632335 A G 181795 single nucleotide variant NM_000465.3(BARD1):c.1438T>C (p.Leu480=) 786203220 MedGen:C0027672,SNOMED CT:C0027672 2 214767612 214767612 A G 181795 single nucleotide variant NM_000465.3(BARD1):c.1438T>C (p.Leu480=) 786203220 MedGen:C0027672,SNOMED CT:C0027672 2 215632336 215632336 A G 181796 single nucleotide variant NM_000465.3(BARD1):c.1419C>T (p.His473=) 786203473 MedGen:C0027672,SNOMED CT:C0027672 2 215632355 215632355 G A 181796 single nucleotide variant NM_000465.3(BARD1):c.1419C>T (p.His473=) 786203473 MedGen:C0027672,SNOMED CT:C0027672 2 214767631 214767631 G A 181797 single nucleotide variant NM_000465.3(BARD1):c.1317C>T (p.Gly439=) 369986649 MedGen:C0027672,SNOMED CT:C0027672 2 215634034 215634034 G A 181797 single nucleotide variant NM_000465.3(BARD1):c.1317C>T (p.Gly439=) 369986649 MedGen:C0027672,SNOMED CT:C0027672 2 214769310 214769310 G A 181798 single nucleotide variant NM_000465.3(BARD1):c.1308T>A (p.Ser436=) 786203605 MedGen:C0027672,SNOMED CT:C0027672 2 215645290 215645290 A T 181798 single nucleotide variant NM_000465.3(BARD1):c.1308T>A (p.Ser436=) 786203605 MedGen:C0027672,SNOMED CT:C0027672 2 214780566 214780566 A T 181799 single nucleotide variant NM_000465.3(BARD1):c.1276C>G (p.His426Asp) 786203499 MedGen:C0027672,SNOMED CT:C0027672 2 215645322 215645322 G C 181799 single nucleotide variant NM_000465.3(BARD1):c.1276C>G (p.His426Asp) 786203499 MedGen:C0027672,SNOMED CT:C0027672 2 214780598 214780598 G C 181800 single nucleotide variant NM_000465.3(BARD1):c.1268A>G (p.Lys423Arg) 749383704 MedGen:C0027672,SNOMED CT:C0027672 2 215645330 215645330 T C 181800 single nucleotide variant NM_000465.3(BARD1):c.1268A>G (p.Lys423Arg) 749383704 MedGen:C0027672,SNOMED CT:C0027672 2 214780606 214780606 T C 181801 indel NM_000465.3(BARD1):c.1264_1267delGTGAinsATG (p.Val422Metfs) 786203533 MedGen:C0027672,SNOMED CT:C0027672 2 215645331 215645334 TCAC CAT 181801 indel NM_000465.3(BARD1):c.1264_1267delGTGAinsATG (p.Val422Metfs) 786203533 MedGen:C0027672,SNOMED CT:C0027672 2 214780607 214780610 TCAC CAT 181802 single nucleotide variant NM_000465.3(BARD1):c.1259T>A (p.Met420Lys) 786203217 MedGen:C0027672,SNOMED CT:C0027672 2 215645339 215645339 A T 181802 single nucleotide variant NM_000465.3(BARD1):c.1259T>A (p.Met420Lys) 786203217 MedGen:C0027672,SNOMED CT:C0027672 2 214780615 214780615 A T 181803 single nucleotide variant NM_000465.3(BARD1):c.1233C>T (p.Pro411=) 752186689 MedGen:C0027672,SNOMED CT:C0027672 2 215645365 215645365 G A 181803 single nucleotide variant NM_000465.3(BARD1):c.1233C>T (p.Pro411=) 752186689 MedGen:C0027672,SNOMED CT:C0027672 2 214780641 214780641 G A 181804 single nucleotide variant NM_000465.3(BARD1):c.1231C>G (p.Pro411Ala) 786203825 MedGen:C0027672,SNOMED CT:C0027672 2 215645367 215645367 G C 181804 single nucleotide variant NM_000465.3(BARD1):c.1231C>G (p.Pro411Ala) 786203825 MedGen:C0027672,SNOMED CT:C0027672 2 214780643 214780643 G C 181805 single nucleotide variant NM_000465.3(BARD1):c.1226C>G (p.Ser409Cys) 786202226 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215645372 215645372 G C 181805 single nucleotide variant NM_000465.3(BARD1):c.1226C>G (p.Ser409Cys) 786202226 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214780648 214780648 G C 181806 single nucleotide variant NM_000465.3(BARD1):c.1206A>G (p.Ser402=) 786203162 MedGen:C0027672,SNOMED CT:C0027672 2 214780668 214780668 T C 181806 single nucleotide variant NM_000465.3(BARD1):c.1206A>G (p.Ser402=) 786203162 MedGen:C0027672,SNOMED CT:C0027672 2 215645392 215645392 T C 181807 single nucleotide variant NM_000465.3(BARD1):c.1203T>C (p.Ser401=) 370553043 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215645395 215645395 A G 181807 single nucleotide variant NM_000465.3(BARD1):c.1203T>C (p.Ser401=) 370553043 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214780671 214780671 A G 181808 deletion NM_000465.3(BARD1):c.1198delA (p.Ser400Valfs) 786203891 MedGen:C0027672,SNOMED CT:C0027672 2 215645400 215645400 T - 181808 deletion NM_000465.3(BARD1):c.1198delA (p.Ser400Valfs) 786203891 MedGen:C0027672,SNOMED CT:C0027672 2 214780676 214780676 T - 181809 single nucleotide variant NM_000465.3(BARD1):c.1194A>G (p.Thr398=) 781482219 MedGen:C0027672,SNOMED CT:C0027672 2 214780680 214780680 T C 181809 single nucleotide variant NM_000465.3(BARD1):c.1194A>G (p.Thr398=) 781482219 MedGen:C0027672,SNOMED CT:C0027672 2 215645404 215645404 T C 181810 single nucleotide variant NM_000465.3(BARD1):c.1159T>C (p.Phe387Leu) 759370463 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214780715 214780715 A G 181810 single nucleotide variant NM_000465.3(BARD1):c.1159T>C (p.Phe387Leu) 759370463 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215645439 215645439 A G 181811 single nucleotide variant NM_000465.3(BARD1):c.1153G>A (p.Asp385Asn) 587782436 MedGen:C0027672,SNOMED CT:C0027672 2 214780721 214780721 C T 181811 single nucleotide variant NM_000465.3(BARD1):c.1153G>A (p.Asp385Asn) 587782436 MedGen:C0027672,SNOMED CT:C0027672 2 215645445 215645445 C T 181812 single nucleotide variant NM_000465.3(BARD1):c.1152C>T (p.Ser384=) 368291318 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215645446 215645446 G A 181812 single nucleotide variant NM_000465.3(BARD1):c.1152C>T (p.Ser384=) 368291318 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214780722 214780722 G A 181813 single nucleotide variant NM_000465.3(BARD1):c.1148T>A (p.Met383Lys) 763596413 MedGen:C0027672,SNOMED CT:C0027672 2 215645450 215645450 A T 181813 single nucleotide variant NM_000465.3(BARD1):c.1148T>A (p.Met383Lys) 763596413 MedGen:C0027672,SNOMED CT:C0027672 2 214780726 214780726 A T 181814 single nucleotide variant NM_000465.3(BARD1):c.1136A>G (p.Lys379Arg) 750827325 MedGen:C0027672,SNOMED CT:C0027672 2 215645462 215645462 T C 181814 single nucleotide variant NM_000465.3(BARD1):c.1136A>G (p.Lys379Arg) 750827325 MedGen:C0027672,SNOMED CT:C0027672 2 214780738 214780738 T C 181815 single nucleotide variant NM_000465.3(BARD1):c.1084T>G (p.Cys362Gly) 141351035 MedGen:C0027672,SNOMED CT:C0027672 2 215645514 215645514 A C 181815 single nucleotide variant NM_000465.3(BARD1):c.1084T>G (p.Cys362Gly) 141351035 MedGen:C0027672,SNOMED CT:C0027672 2 214780790 214780790 A C 181816 single nucleotide variant NM_000465.3(BARD1):c.1071A>C (p.Ile357=) 786202366 MedGen:C0027672,SNOMED CT:C0027672 2 215645527 215645527 T G 181816 single nucleotide variant NM_000465.3(BARD1):c.1071A>C (p.Ile357=) 786202366 MedGen:C0027672,SNOMED CT:C0027672 2 214780803 214780803 T G 181817 single nucleotide variant NM_000465.3(BARD1):c.1061C>G (p.Ser354Ter) 786202559 MedGen:C0027672,SNOMED CT:C0027672 2 215645537 215645537 G C 181817 single nucleotide variant NM_000465.3(BARD1):c.1061C>G (p.Ser354Ter) 786202559 MedGen:C0027672,SNOMED CT:C0027672 2 214780813 214780813 G C 181818 single nucleotide variant NM_000465.3(BARD1):c.1059C>G (p.Pro353=) 368649242 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215645539 215645539 G C 181818 single nucleotide variant NM_000465.3(BARD1):c.1059C>G (p.Pro353=) 368649242 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214780815 214780815 G C 181819 single nucleotide variant NM_000465.3(BARD1):c.1059C>A (p.Pro353=) 368649242 MedGen:C0027672,SNOMED CT:C0027672 2 215645539 215645539 G T 181819 single nucleotide variant NM_000465.3(BARD1):c.1059C>A (p.Pro353=) 368649242 MedGen:C0027672,SNOMED CT:C0027672 2 214780815 214780815 G T 181820 single nucleotide variant NM_000465.3(BARD1):c.1046A>G (p.Lys349Arg) 786202282 MedGen:C0027672,SNOMED CT:C0027672 2 215645552 215645552 T C 181820 single nucleotide variant NM_000465.3(BARD1):c.1046A>G (p.Lys349Arg) 786202282 MedGen:C0027672,SNOMED CT:C0027672 2 214780828 214780828 T C 181821 single nucleotide variant NM_000465.3(BARD1):c.964C>T (p.Arg322Cys) 786203129 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215645634 215645634 G A 181821 single nucleotide variant NM_000465.3(BARD1):c.964C>T (p.Arg322Cys) 786203129 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214780910 214780910 G A 181822 single nucleotide variant NM_000465.3(BARD1):c.944C>T (p.Pro315Leu) 148760338 MedGen:C0027672,SNOMED CT:C0027672 2 215645654 215645654 G A 181822 single nucleotide variant NM_000465.3(BARD1):c.944C>T (p.Pro315Leu) 148760338 MedGen:C0027672,SNOMED CT:C0027672 2 214780930 214780930 G A 181823 single nucleotide variant NM_000465.3(BARD1):c.913A>C (p.Lys305Gln) 786203258 MedGen:C0027672,SNOMED CT:C0027672 2 214780961 214780961 T G 181823 single nucleotide variant NM_000465.3(BARD1):c.913A>C (p.Lys305Gln) 786203258 MedGen:C0027672,SNOMED CT:C0027672 2 215645685 215645685 T G 181824 single nucleotide variant NM_000465.3(BARD1):c.882G>A (p.Arg294=) 778855056 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215645716 215645716 C T 181824 single nucleotide variant NM_000465.3(BARD1):c.882G>A (p.Arg294=) 778855056 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214780992 214780992 C T 181825 deletion NM_000465.3(BARD1):c.860_861delAG (p.Glu287Valfs) 786201868 MedGen:C0027672,SNOMED CT:C0027672 2 215645737 215645738 CT - 181825 deletion NM_000465.3(BARD1):c.860_861delAG (p.Glu287Valfs) 786201868 MedGen:C0027672,SNOMED CT:C0027672 2 214781013 214781014 CT - 181826 single nucleotide variant NM_000465.3(BARD1):c.842C>T (p.Pro281Leu) 367890377 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215645756 215645756 G A 181826 single nucleotide variant NM_000465.3(BARD1):c.842C>T (p.Pro281Leu) 367890377 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214781032 214781032 G A 181827 single nucleotide variant NM_000465.3(BARD1):c.747C>T (p.Ile249=) 746551077 MedGen:C0027672,SNOMED CT:C0027672 2 215645851 215645851 G A 181827 single nucleotide variant NM_000465.3(BARD1):c.747C>T (p.Ile249=) 746551077 MedGen:C0027672,SNOMED CT:C0027672 2 214781127 214781127 G A 181828 single nucleotide variant NM_000465.3(BARD1):c.735A>G (p.Gln245=) 763378916 MedGen:C0027672,SNOMED CT:C0027672 2 215645863 215645863 T C 181828 single nucleotide variant NM_000465.3(BARD1):c.735A>G (p.Gln245=) 763378916 MedGen:C0027672,SNOMED CT:C0027672 2 214781139 214781139 T C 181829 single nucleotide variant NM_000465.3(BARD1):c.702A>G (p.Glu234=) 786202878 MedGen:C0027672,SNOMED CT:C0027672 2 215645896 215645896 T C 181829 single nucleotide variant NM_000465.3(BARD1):c.702A>G (p.Glu234=) 786202878 MedGen:C0027672,SNOMED CT:C0027672 2 214781172 214781172 T C 181830 single nucleotide variant NM_000465.3(BARD1):c.669A>G (p.Glu223=) 786201963 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215645929 215645929 T C 181830 single nucleotide variant NM_000465.3(BARD1):c.669A>G (p.Glu223=) 786201963 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214781205 214781205 T C 181831 single nucleotide variant NM_000465.3(BARD1):c.662A>G (p.Glu221Gly) 786203387 MedGen:C0027672,SNOMED CT:C0027672 2 215645936 215645936 T C 181831 single nucleotide variant NM_000465.3(BARD1):c.662A>G (p.Glu221Gly) 786203387 MedGen:C0027672,SNOMED CT:C0027672 2 214781212 214781212 T C 181832 single nucleotide variant NM_000465.3(BARD1):c.651A>G (p.Lys217=) 768866006 MedGen:C0027672,SNOMED CT:C0027672 2 215645947 215645947 T C 181832 single nucleotide variant NM_000465.3(BARD1):c.651A>G (p.Lys217=) 768866006 MedGen:C0027672,SNOMED CT:C0027672 2 214781223 214781223 T C 181833 single nucleotide variant NM_000465.3(BARD1):c.644A>G (p.Asn215Ser) 774929973 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215645954 215645954 T C 181833 single nucleotide variant NM_000465.3(BARD1):c.644A>G (p.Asn215Ser) 774929973 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214781230 214781230 T C 181834 single nucleotide variant NM_000465.3(BARD1):c.632T>C (p.Leu211Ser) 762171436 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215645966 215645966 A G 181834 single nucleotide variant NM_000465.3(BARD1):c.632T>C (p.Leu211Ser) 762171436 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214781242 214781242 A G 181835 single nucleotide variant NM_000465.3(BARD1):c.601A>G (p.Arg201Gly) 786203051 MedGen:C0027672,SNOMED CT:C0027672 2 214781273 214781273 T C 181835 single nucleotide variant NM_000465.3(BARD1):c.601A>G (p.Arg201Gly) 786203051 MedGen:C0027672,SNOMED CT:C0027672 2 215645997 215645997 T C 181836 single nucleotide variant NM_000465.3(BARD1):c.565G>A (p.Ala189Thr) 786202110 MedGen:C0027672,SNOMED CT:C0027672 2 214781309 214781309 C T 181836 single nucleotide variant NM_000465.3(BARD1):c.565G>A (p.Ala189Thr) 786202110 MedGen:C0027672,SNOMED CT:C0027672 2 215646033 215646033 C T 181837 deletion NM_000465.3(BARD1):c.539_540delAT (p.Tyr180Terfs) 779427628 MedGen:C0027672,SNOMED CT:C0027672 2 215646058 215646059 AT - 181837 deletion NM_000465.3(BARD1):c.539_540delAT (p.Tyr180Terfs) 779427628 MedGen:C0027672,SNOMED CT:C0027672 2 214781334 214781335 AT - 181838 single nucleotide variant NM_000465.3(BARD1):c.537A>T (p.Ser179=) 786202959 MedGen:C0027672,SNOMED CT:C0027672 2 215646061 215646061 T A 181838 single nucleotide variant NM_000465.3(BARD1):c.537A>T (p.Ser179=) 786202959 MedGen:C0027672,SNOMED CT:C0027672 2 214781337 214781337 T A 181839 single nucleotide variant NM_000465.3(BARD1):c.531A>G (p.Gln177=) 774050888 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215646067 215646067 T C 181839 single nucleotide variant NM_000465.3(BARD1):c.531A>G (p.Gln177=) 774050888 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214781343 214781343 T C 181840 single nucleotide variant NM_000465.3(BARD1):c.496C>T (p.Gln166Ter) 786202500 MedGen:C0027672,SNOMED CT:C0027672 2 215646102 215646102 G A 181840 single nucleotide variant NM_000465.3(BARD1):c.496C>T (p.Gln166Ter) 786202500 MedGen:C0027672,SNOMED CT:C0027672 2 214781378 214781378 G A 181841 single nucleotide variant NM_000465.3(BARD1):c.476G>A (p.Ser159Asn) 786203226 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215646122 215646122 C T 181841 single nucleotide variant NM_000465.3(BARD1):c.476G>A (p.Ser159Asn) 786203226 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214781398 214781398 C T 181842 single nucleotide variant NM_000465.3(BARD1):c.334C>T (p.Arg112Ter) 758972589 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 2 215657051 215657051 G A 181842 single nucleotide variant NM_000465.3(BARD1):c.334C>T (p.Arg112Ter) 758972589 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 2 214792327 214792327 G A 181843 single nucleotide variant NM_000465.3(BARD1):c.298C>T (p.Gln100Ter) 786201912 MedGen:C0027672,SNOMED CT:C0027672 2 215657087 215657087 G A 181843 single nucleotide variant NM_000465.3(BARD1):c.298C>T (p.Gln100Ter) 786201912 MedGen:C0027672,SNOMED CT:C0027672 2 214792363 214792363 G A 181844 single nucleotide variant NM_000465.3(BARD1):c.279A>G (p.Gln93=) 370000575 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215657106 215657106 T C 181844 single nucleotide variant NM_000465.3(BARD1):c.279A>G (p.Gln93=) 370000575 MedGen:CN221572;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214792382 214792382 T C 181845 single nucleotide variant NM_000465.3(BARD1):c.267G>A (p.Pro89=) 756165637 MedGen:C0027672,SNOMED CT:C0027672 2 215657118 215657118 C T 181845 single nucleotide variant NM_000465.3(BARD1):c.267G>A (p.Pro89=) 756165637 MedGen:C0027672,SNOMED CT:C0027672 2 214792394 214792394 C T 181846 single nucleotide variant NM_000465.3(BARD1):c.266C>T (p.Pro89Leu) 780241203 MedGen:C0027672,SNOMED CT:C0027672 2 215657119 215657119 G A 181846 single nucleotide variant NM_000465.3(BARD1):c.266C>T (p.Pro89Leu) 780241203 MedGen:C0027672,SNOMED CT:C0027672 2 214792395 214792395 G A 181847 single nucleotide variant NM_000465.3(BARD1):c.252A>T (p.Pro84=) 786202670 MedGen:C0027672,SNOMED CT:C0027672 2 215657133 215657133 T A 181847 single nucleotide variant NM_000465.3(BARD1):c.252A>T (p.Pro84=) 786202670 MedGen:C0027672,SNOMED CT:C0027672 2 214792409 214792409 T A 181848 single nucleotide variant NM_000465.3(BARD1):c.225A>T (p.Val75=) 786202766 MedGen:C0027672,SNOMED CT:C0027672 2 215657160 215657160 T A 181848 single nucleotide variant NM_000465.3(BARD1):c.225A>T (p.Val75=) 786202766 MedGen:C0027672,SNOMED CT:C0027672 2 214792436 214792436 T A 181849 single nucleotide variant NM_000465.3(BARD1):c.159T>C (p.Cys53=) 201708813 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215661841 215661841 A G 181849 single nucleotide variant NM_000465.3(BARD1):c.159T>C (p.Cys53=) 201708813 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214797117 214797117 A G 181850 single nucleotide variant NM_000465.3(BARD1):c.152C>T (p.Ser51Leu) 766788652 MedGen:C0027672,SNOMED CT:C0027672 2 215674142 215674142 G A 181850 single nucleotide variant NM_000465.3(BARD1):c.152C>T (p.Ser51Leu) 766788652 MedGen:C0027672,SNOMED CT:C0027672 2 214809418 214809418 G A 181851 single nucleotide variant NM_000465.3(BARD1):c.144G>A (p.Leu48=) 151168457 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215674150 215674150 C T 181851 single nucleotide variant NM_000465.3(BARD1):c.144G>A (p.Leu48=) 151168457 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214809426 214809426 C T 181852 single nucleotide variant NM_000465.3(BARD1):c.121C>T (p.Leu41Phe) 751665426 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215674173 215674173 G A 181852 single nucleotide variant NM_000465.3(BARD1):c.121C>T (p.Leu41Phe) 751665426 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214809449 214809449 G A 181853 single nucleotide variant NM_000465.3(BARD1):c.117C>T (p.Ala39=) 786202271 MedGen:C0027672,SNOMED CT:C0027672 2 215674177 215674177 G A 181853 single nucleotide variant NM_000465.3(BARD1):c.117C>T (p.Ala39=) 786202271 MedGen:C0027672,SNOMED CT:C0027672 2 214809453 214809453 G A 181854 single nucleotide variant NM_000465.3(BARD1):c.104C>T (p.Ala35Val) 786203646 MedGen:C0027672,SNOMED CT:C0027672 2 215674190 215674190 G A 181854 single nucleotide variant NM_000465.3(BARD1):c.104C>T (p.Ala35Val) 786203646 MedGen:C0027672,SNOMED CT:C0027672 2 214809466 214809466 G A 181855 single nucleotide variant NM_000465.3(BARD1):c.73G>C (p.Ala25Pro) 751646468 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215674221 215674221 C G 181855 single nucleotide variant NM_000465.3(BARD1):c.73G>C (p.Ala25Pro) 751646468 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214809497 214809497 C G 181856 single nucleotide variant NM_000465.3(BARD1):c.70C>T (p.Pro24Ser) 1048108 MedGen:CN221572;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215674224 215674224 G A 181856 single nucleotide variant NM_000465.3(BARD1):c.70C>T (p.Pro24Ser) 1048108 MedGen:CN221572;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214809500 214809500 G A 181857 single nucleotide variant NM_000465.3(BARD1):c.49G>A (p.Gly17Arg) 746495820 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215674245 215674245 C T 181857 single nucleotide variant NM_000465.3(BARD1):c.49G>A (p.Gly17Arg) 746495820 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214809521 214809521 C T 181858 single nucleotide variant NM_000465.3(BARD1):c.45C>T (p.Arg15=) 786201402 MedGen:C0027672,SNOMED CT:C0027672 2 215674249 215674249 G A 181858 single nucleotide variant NM_000465.3(BARD1):c.45C>T (p.Arg15=) 786201402 MedGen:C0027672,SNOMED CT:C0027672 2 214809525 214809525 G A 181859 single nucleotide variant NM_000465.3(BARD1):c.35C>T (p.Pro12Leu) 786203647 MedGen:C0027672,SNOMED CT:C0027672 2 215674259 215674259 G A 181859 single nucleotide variant NM_000465.3(BARD1):c.35C>T (p.Pro12Leu) 786203647 MedGen:C0027672,SNOMED CT:C0027672 2 214809535 214809535 G A 181860 single nucleotide variant NM_000465.3(BARD1):c.-4G>A 761863671 MedGen:C0027672,SNOMED CT:C0027672 2 215674297 215674297 C T 181860 single nucleotide variant NM_000465.3(BARD1):c.-4G>A 761863671 MedGen:C0027672,SNOMED CT:C0027672 2 214809573 214809573 C T 212111 duplication NM_000465.3(BARD1):c.1315-?_*(1_?)dup -1 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214728675 214769312 na na 212111 duplication NM_000465.3(BARD1):c.1315-?_*(1_?)dup -1 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215593399 215634036 na na 212127 single nucleotide variant NM_000465.3(BARD1):c.2328C>T (p.Asp776=) 863224673 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215593406 215593406 G A 212127 single nucleotide variant NM_000465.3(BARD1):c.2328C>T (p.Asp776=) 863224673 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214728682 214728682 G A 212128 single nucleotide variant NM_000465.3(BARD1):c.2272G>C (p.Ala758Pro) 863224672 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214728738 214728738 C G 212128 single nucleotide variant NM_000465.3(BARD1):c.2272G>C (p.Ala758Pro) 863224672 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215593462 215593462 C G 212129 single nucleotide variant NM_000465.3(BARD1):c.2216A>G (p.Tyr739Cys) 777013688 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214728794 214728794 T C 212129 single nucleotide variant NM_000465.3(BARD1):c.2216A>G (p.Tyr739Cys) 777013688 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215593518 215593518 T C 212130 single nucleotide variant NM_000465.3(BARD1):c.2178C>T (p.Pro726=) 201873551 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215593556 215593556 G A 212130 single nucleotide variant NM_000465.3(BARD1):c.2178C>T (p.Pro726=) 201873551 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214728832 214728832 G A 212131 single nucleotide variant NM_000465.3(BARD1):c.2065G>A (p.Asp689Asn) 863224671 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215593669 215593669 C T 212131 single nucleotide variant NM_000465.3(BARD1):c.2065G>A (p.Asp689Asn) 863224671 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214728945 214728945 C T 212132 single nucleotide variant NM_000465.3(BARD1):c.1788A>G (p.Lys596=) 777084777 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215610468 215610468 T C 212132 single nucleotide variant NM_000465.3(BARD1):c.1788A>G (p.Lys596=) 777084777 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214745744 214745744 T C 212133 single nucleotide variant NM_000465.3(BARD1):c.1731G>A (p.Leu577=) 863224364 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215610525 215610525 C T 212133 single nucleotide variant NM_000465.3(BARD1):c.1731G>A (p.Leu577=) 863224364 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214745801 214745801 C T 212134 inversion NM_000465.3(BARD1):c.1518_1519invTG (p.Val507Met) -1 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215632255 215632256 CA TG 212134 inversion NM_000465.3(BARD1):c.1518_1519invTG (p.Val507Met) -1 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214767531 214767532 CA TG 212135 single nucleotide variant NM_000465.3(BARD1):c.1360C>T (p.Pro454Ser) 730881408 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215633991 215633991 G A 212135 single nucleotide variant NM_000465.3(BARD1):c.1360C>T (p.Pro454Ser) 730881408 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214769267 214769267 G A 212136 single nucleotide variant NM_000465.3(BARD1):c.1060T>A (p.Ser354Thr) 863224670 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215645538 215645538 A T 212136 single nucleotide variant NM_000465.3(BARD1):c.1060T>A (p.Ser354Thr) 863224670 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214780814 214780814 A T 212137 single nucleotide variant NM_000465.3(BARD1):c.1053G>T (p.Thr351=) 2070096 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215645545 215645545 C A 212137 single nucleotide variant NM_000465.3(BARD1):c.1053G>T (p.Thr351=) 2070096 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214780821 214780821 C A 212138 single nucleotide variant NM_000465.3(BARD1):c.927A>G (p.Thr309=) 863224365 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215645671 215645671 T C 212138 single nucleotide variant NM_000465.3(BARD1):c.927A>G (p.Thr309=) 863224365 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214780947 214780947 T C 212139 single nucleotide variant NM_000465.3(BARD1):c.897T>C (p.Thr299=) 559051241 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215645701 215645701 A G 212139 single nucleotide variant NM_000465.3(BARD1):c.897T>C (p.Thr299=) 559051241 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214780977 214780977 A G 212140 deletion NM_000465.3(BARD1):c.365-8delT 776103948 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215646241 215646241 A - 212140 deletion NM_000465.3(BARD1):c.365-8delT 776103948 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214781517 214781517 A - 212141 single nucleotide variant NM_000465.3(BARD1):c.188T>C (p.Leu63Ser) 748828467 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215661812 215661812 A G 212141 single nucleotide variant NM_000465.3(BARD1):c.188T>C (p.Leu63Ser) 748828467 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214797088 214797088 A G 212142 single nucleotide variant NM_000465.3(BARD1):c.71C>G (p.Pro24Arg) 863224674 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215674223 215674223 G C 212142 single nucleotide variant NM_000465.3(BARD1):c.71C>G (p.Pro24Arg) 863224674 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214809499 214809499 G C 212143 single nucleotide variant NM_000465.3(BARD1):c.49G>C (p.Gly17Arg) 746495820 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214809521 214809521 C G 212143 single nucleotide variant NM_000465.3(BARD1):c.49G>C (p.Gly17Arg) 746495820 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215674245 215674245 C G 221138 single nucleotide variant NM_000465.3(BARD1):c.2117A>G (p.Lys706Arg) 864622716 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215593617 215593617 T C 221137 single nucleotide variant NM_000465.3(BARD1):c.2145G>A (p.Gln715=) 760541330 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215593589 215593589 C T 221137 single nucleotide variant NM_000465.3(BARD1):c.2145G>A (p.Gln715=) 760541330 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214728865 214728865 C T 221138 single nucleotide variant NM_000465.3(BARD1):c.2117A>G (p.Lys706Arg) 864622716 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214728893 214728893 T C 221139 single nucleotide variant NM_000465.3(BARD1):c.2057A>G (p.His686Arg) 864622380 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215593677 215593677 T C 221139 single nucleotide variant NM_000465.3(BARD1):c.2057A>G (p.His686Arg) 864622380 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214728953 214728953 T C 221140 single nucleotide variant NM_000465.3(BARD1):c.1904-2A>T 864622239 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214730510 214730510 T A 221140 single nucleotide variant NM_000465.3(BARD1):c.1904-2A>T 864622239 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215595234 215595234 T A 221141 single nucleotide variant NM_000465.3(BARD1):c.1904-6T>C 864622634 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215595238 215595238 A G 221141 single nucleotide variant NM_000465.3(BARD1):c.1904-6T>C 864622634 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214730514 214730514 A G 221142 single nucleotide variant NM_000465.3(BARD1):c.1811-7A>G 864622487 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215609890 215609890 T C 221142 single nucleotide variant NM_000465.3(BARD1):c.1811-7A>G 864622487 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214745166 214745166 T C 221143 single nucleotide variant NM_000465.3(BARD1):c.1757G>T (p.Ser586Ile) 369756202 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 2 214745775 214745775 C A 221143 single nucleotide variant NM_000465.3(BARD1):c.1757G>T (p.Ser586Ile) 369756202 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 2 215610499 215610499 C A 221144 duplication NM_000465.3(BARD1):c.1751_1756dupTGCTCA (p.Leu585_Ser586insMetLeu) 763622701 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214745776 214745781 TGAGCA TGAGCATGAGCA 221144 duplication NM_000465.3(BARD1):c.1751_1756dupTGCTCA (p.Leu585_Ser586insMetLeu) 763622701 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215610500 215610505 TGAGCA TGAGCATGAGCA 221145 single nucleotide variant NM_000465.3(BARD1):c.1745A>G (p.Gln582Arg) 864622329 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215610511 215610511 T C 221145 single nucleotide variant NM_000465.3(BARD1):c.1745A>G (p.Gln582Arg) 864622329 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214745787 214745787 T C 221146 single nucleotide variant NM_000465.3(BARD1):c.1678A>G (p.Met560Val) 587780020 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215610578 215610578 T C 221146 single nucleotide variant NM_000465.3(BARD1):c.1678A>G (p.Met560Val) 587780020 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214745854 214745854 T C 221147 single nucleotide variant NM_000465.3(BARD1):c.1652C>T (p.Ser551Leu) 587781707 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215617196 215617196 G A 221147 single nucleotide variant NM_000465.3(BARD1):c.1652C>T (p.Ser551Leu) 587781707 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214752472 214752472 G A 221148 single nucleotide variant NM_000465.3(BARD1):c.1601C>T (p.Thr534Ile) 374293292 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215617247 215617247 G A 221148 single nucleotide variant NM_000465.3(BARD1):c.1601C>T (p.Thr534Ile) 374293292 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214752523 214752523 G A 221149 single nucleotide variant NM_000465.3(BARD1):c.1533G>A (p.Lys511=) 371785856 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215632241 215632241 C T 221149 single nucleotide variant NM_000465.3(BARD1):c.1533G>A (p.Lys511=) 371785856 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214767517 214767517 C T 221150 single nucleotide variant NM_000465.3(BARD1):c.1513G>C (p.Gly505Arg) 864622240 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215632261 215632261 C G 221150 single nucleotide variant NM_000465.3(BARD1):c.1513G>C (p.Gly505Arg) 864622240 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214767537 214767537 C G 221151 single nucleotide variant NM_000465.3(BARD1):c.1498G>A (p.Asp500Asn) 779468443 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214767552 214767552 C T 221151 single nucleotide variant NM_000465.3(BARD1):c.1498G>A (p.Asp500Asn) 779468443 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215632276 215632276 C T 221152 single nucleotide variant NM_000465.3(BARD1):c.1319A>G (p.Asp440Gly) 753446928 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214769308 214769308 T C 221152 single nucleotide variant NM_000465.3(BARD1):c.1319A>G (p.Asp440Gly) 753446928 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215634032 215634032 T C 221153 single nucleotide variant NM_000465.3(BARD1):c.1240A>T (p.Met414Leu) 759601398 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214780634 214780634 T A 221153 single nucleotide variant NM_000465.3(BARD1):c.1240A>T (p.Met414Leu) 759601398 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215645358 215645358 T A 221154 single nucleotide variant NM_000465.3(BARD1):c.1136A>C (p.Lys379Thr) 750827325 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215645462 215645462 T G 221154 single nucleotide variant NM_000465.3(BARD1):c.1136A>C (p.Lys379Thr) 750827325 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214780738 214780738 T G 221155 single nucleotide variant NM_000465.3(BARD1):c.1077G>T (p.Leu359Phe) 864622283 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215645521 215645521 C A 221155 single nucleotide variant NM_000465.3(BARD1):c.1077G>T (p.Leu359Phe) 864622283 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214780797 214780797 C A 221156 single nucleotide variant NM_000465.3(BARD1):c.1014C>G (p.Thr338=) 864622443 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214780860 214780860 G C 221156 single nucleotide variant NM_000465.3(BARD1):c.1014C>G (p.Thr338=) 864622443 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215645584 215645584 G C 221157 single nucleotide variant NM_000465.3(BARD1):c.907G>C (p.Val303Leu) 375048835 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214780967 214780967 C G 221157 single nucleotide variant NM_000465.3(BARD1):c.907G>C (p.Val303Leu) 375048835 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215645691 215645691 C G 221158 single nucleotide variant NM_000465.3(BARD1):c.684A>G (p.Glu228=) 780627045 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214781190 214781190 T C 221158 single nucleotide variant NM_000465.3(BARD1):c.684A>G (p.Glu228=) 780627045 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215645914 215645914 T C 221159 single nucleotide variant NM_000465.3(BARD1):c.643A>T (p.Asn215Tyr) 864622353 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214781231 214781231 T A 221159 single nucleotide variant NM_000465.3(BARD1):c.643A>T (p.Asn215Tyr) 864622353 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215645955 215645955 T A 221160 deletion NM_000465.3(BARD1):c.627_628delAA (p.Lys209Asnfs) 864622223 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 2 214781246 214781247 TT - 221160 deletion NM_000465.3(BARD1):c.627_628delAA (p.Lys209Asnfs) 864622223 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN221809 2 215645970 215645971 TT - 221161 single nucleotide variant NM_000465.3(BARD1):c.609A>G (p.Gly203=) 28997574 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215645989 215645989 T C 221161 single nucleotide variant NM_000465.3(BARD1):c.609A>G (p.Gly203=) 28997574 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214781265 214781265 T C 221162 single nucleotide variant NM_000465.3(BARD1):c.600A>G (p.Ala200=) 864622418 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215645998 215645998 T C 221162 single nucleotide variant NM_000465.3(BARD1):c.600A>G (p.Ala200=) 864622418 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214781274 214781274 T C 221163 single nucleotide variant NM_000465.3(BARD1):c.566C>T (p.Ala189Val) 864622686 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214781308 214781308 G A 221163 single nucleotide variant NM_000465.3(BARD1):c.566C>T (p.Ala189Val) 864622686 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215646032 215646032 G A 221164 single nucleotide variant NM_000465.3(BARD1):c.365-7C>T 745929983 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215646240 215646240 G A 221164 single nucleotide variant NM_000465.3(BARD1):c.365-7C>T 745929983 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214781516 214781516 G A 221165 single nucleotide variant NM_000465.3(BARD1):c.335G>C (p.Arg112Pro) 587781591 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215657050 215657050 C G 221165 single nucleotide variant NM_000465.3(BARD1):c.335G>C (p.Arg112Pro) 587781591 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214792326 214792326 C G 221166 single nucleotide variant NM_000465.3(BARD1):c.293A>G (p.Asn98Ser) 763707275 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215657092 215657092 T C 221166 single nucleotide variant NM_000465.3(BARD1):c.293A>G (p.Asn98Ser) 763707275 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214792368 214792368 T C 221167 single nucleotide variant NM_000465.3(BARD1):c.274A>T (p.Ile92Leu) 750878896 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215657111 215657111 T A 221167 single nucleotide variant NM_000465.3(BARD1):c.274A>T (p.Ile92Leu) 750878896 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214792387 214792387 T A 221168 single nucleotide variant NM_000465.3(BARD1):c.159-7C>T 533403598 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214797124 214797124 G A 221168 single nucleotide variant NM_000465.3(BARD1):c.159-7C>T 533403598 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215661848 215661848 G A 221169 single nucleotide variant NM_000465.3(BARD1):c.127C>G (p.Arg43Gly) 752871324 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215674167 215674167 G C 221169 single nucleotide variant NM_000465.3(BARD1):c.127C>G (p.Arg43Gly) 752871324 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214809443 214809443 G C 221170 single nucleotide variant NM_000465.3(BARD1):c.127C>A (p.Arg43Ser) 752871324 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214809443 214809443 G T 221170 single nucleotide variant NM_000465.3(BARD1):c.127C>A (p.Arg43Ser) 752871324 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215674167 215674167 G T 221171 single nucleotide variant NM_000465.3(BARD1):c.107A>G (p.His36Arg) 864622635 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215674187 215674187 T C 221171 single nucleotide variant NM_000465.3(BARD1):c.107A>G (p.His36Arg) 864622635 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214809463 214809463 T C 221172 single nucleotide variant NM_000465.3(BARD1):c.61C>G (p.Arg21Gly) 864622206 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215674233 215674233 G C 221172 single nucleotide variant NM_000465.3(BARD1):c.61C>G (p.Arg21Gly) 864622206 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214809509 214809509 G C 221173 single nucleotide variant NM_000465.3(BARD1):c.51G>C (p.Gly17=) 864622419 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215674243 215674243 C G 221173 single nucleotide variant NM_000465.3(BARD1):c.51G>C (p.Gly17=) 864622419 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214809519 214809519 C G 221174 single nucleotide variant NM_000465.3(BARD1):c.17A>G (p.Gln6Arg) 864622229 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215674277 215674277 T C 221174 single nucleotide variant NM_000465.3(BARD1):c.17A>G (p.Gln6Arg) 864622229 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214809553 214809553 T C 225238 single nucleotide variant NM_000465.3(BARD1):c.364+4064G>A 869312494 MedGen:C0027672,SNOMED CT:C0027672 2 214788233 214788233 C T 225238 single nucleotide variant NM_000465.3(BARD1):c.364+4064G>A 869312494 MedGen:C0027672,SNOMED CT:C0027672 2 215652957 215652957 C T 225239 single nucleotide variant NM_000465.3(BARD1):c.1315-3486T>C 869312495 MedGen:C0027672,SNOMED CT:C0027672 2 214772798 214772798 A G 225239 single nucleotide variant NM_000465.3(BARD1):c.1315-3486T>C 869312495 MedGen:C0027672,SNOMED CT:C0027672 2 215637522 215637522 A G 225240 single nucleotide variant NM_000465.3(BARD1):c.364+4464G>C 144775419 MedGen:C0027672,SNOMED CT:C0027672 2 214787833 214787833 C G 225240 single nucleotide variant NM_000465.3(BARD1):c.364+4464G>C 144775419 MedGen:C0027672,SNOMED CT:C0027672 2 215652557 215652557 C G 225241 single nucleotide variant NM_000465.3(BARD1):c.158+3314A>G 869312496 MedGen:C0027672,SNOMED CT:C0027672 2 214806098 214806098 T C 225241 single nucleotide variant NM_000465.3(BARD1):c.158+3314A>G 869312496 MedGen:C0027672,SNOMED CT:C0027672 2 215670822 215670822 T C 225242 single nucleotide variant NM_000465.3(BARD1):c.1315-3468G>A 191404429 MedGen:C0027672,SNOMED CT:C0027672 2 214772780 214772780 C T 225242 single nucleotide variant NM_000465.3(BARD1):c.1315-3468G>A 191404429 MedGen:C0027672,SNOMED CT:C0027672 2 215637504 215637504 C T 225243 single nucleotide variant NM_000465.3(BARD1):c.1903+3826A>G 139399687 MedGen:C0027672,SNOMED CT:C0027672 2 214741241 214741241 T C 225243 single nucleotide variant NM_000465.3(BARD1):c.1903+3826A>G 139399687 MedGen:C0027672,SNOMED CT:C0027672 2 215605965 215605965 T C 225244 single nucleotide variant NM_000465.3(BARD1):c.158+3299C>T 142776370 MedGen:C0027672,SNOMED CT:C0027672 2 214806113 214806113 G A 225244 single nucleotide variant NM_000465.3(BARD1):c.158+3299C>T 142776370 MedGen:C0027672,SNOMED CT:C0027672 2 215670837 215670837 G A 225245 single nucleotide variant NM_000465.3(BARD1):c.2002-65A>G 869312497 MedGen:C0027672,SNOMED CT:C0027672 2 214729073 214729073 T C 225245 single nucleotide variant NM_000465.3(BARD1):c.2002-65A>G 869312497 MedGen:C0027672,SNOMED CT:C0027672 2 215593797 215593797 T C 225246 single nucleotide variant NM_000465.3(BARD1):c.364+5275G>A 559892468 MedGen:C0027672,SNOMED CT:C0027672 2 214787022 214787022 C T 225246 single nucleotide variant NM_000465.3(BARD1):c.364+5275G>A 559892468 MedGen:C0027672,SNOMED CT:C0027672 2 215651746 215651746 C T 225247 single nucleotide variant NM_000465.3(BARD1):c.364+3435A>G 869312498 MedGen:C0027672,SNOMED CT:C0027672 2 214788862 214788862 T C 225247 single nucleotide variant NM_000465.3(BARD1):c.364+3435A>G 869312498 MedGen:C0027672,SNOMED CT:C0027672 2 215653586 215653586 T C 225248 single nucleotide variant NM_000465.3(BARD1):c.364+720C>A 869312499 MedGen:C0027672,SNOMED CT:C0027672 2 214791577 214791577 G T 225248 single nucleotide variant NM_000465.3(BARD1):c.364+720C>A 869312499 MedGen:C0027672,SNOMED CT:C0027672 2 215656301 215656301 G T 225249 single nucleotide variant NM_000465.3(BARD1):c.216-206G>A 145063973 MedGen:C0027672,SNOMED CT:C0027672 2 214792651 214792651 C T 225249 single nucleotide variant NM_000465.3(BARD1):c.216-206G>A 145063973 MedGen:C0027672,SNOMED CT:C0027672 2 215657375 215657375 C T 225250 single nucleotide variant NM_000465.3(BARD1):c.364+2639C>T 869312500 MedGen:C0027672,SNOMED CT:C0027672 2 214789658 214789658 G A 225250 single nucleotide variant NM_000465.3(BARD1):c.364+2639C>T 869312500 MedGen:C0027672,SNOMED CT:C0027672 2 215654382 215654382 G A 225251 single nucleotide variant NM_000465.3(BARD1):c.1569-2280T>G 186851078 MedGen:C0027672,SNOMED CT:C0027672 2 214754835 214754835 A C 225251 single nucleotide variant NM_000465.3(BARD1):c.1569-2280T>G 186851078 MedGen:C0027672,SNOMED CT:C0027672 2 215619559 215619559 A C 225252 single nucleotide variant NM_000465.3(BARD1):c.1314+1738A>G 184892512 MedGen:C0027672,SNOMED CT:C0027672 2 214778822 214778822 T C 225252 single nucleotide variant NM_000465.3(BARD1):c.1314+1738A>G 184892512 MedGen:C0027672,SNOMED CT:C0027672 2 215643546 215643546 T C 225253 single nucleotide variant NM_000465.3(BARD1):c.1569-6684C>T 148632364 MedGen:C0027672,SNOMED CT:C0027672 2 214759239 214759239 G A 225253 single nucleotide variant NM_000465.3(BARD1):c.1569-6684C>T 148632364 MedGen:C0027672,SNOMED CT:C0027672 2 215623963 215623963 G A 225254 single nucleotide variant NM_000465.3(BARD1):c.1903+5872A>C 576760373 MedGen:C0027672,SNOMED CT:C0027672 2 214739195 214739195 T G 225254 single nucleotide variant NM_000465.3(BARD1):c.1903+5872A>C 576760373 MedGen:C0027672,SNOMED CT:C0027672 2 215603919 215603919 T G 225255 single nucleotide variant NM_000465.3(BARD1):c.1903+1696C>G 751329195 MedGen:C0027672,SNOMED CT:C0027672 2 214743371 214743371 G C 225255 single nucleotide variant NM_000465.3(BARD1):c.1903+1696C>G 751329195 MedGen:C0027672,SNOMED CT:C0027672 2 215608095 215608095 G C 225256 single nucleotide variant NM_000465.3(BARD1):c.1568+2615T>G 869312501 MedGen:C0027672,SNOMED CT:C0027672 2 214764867 214764867 A C 225256 single nucleotide variant NM_000465.3(BARD1):c.1568+2615T>G 869312501 MedGen:C0027672,SNOMED CT:C0027672 2 215629591 215629591 A C 225257 single nucleotide variant NM_000465.3(BARD1):c.364+2098T>C 182757077 MedGen:C0027672,SNOMED CT:C0027672 2 214790199 214790199 A G 225257 single nucleotide variant NM_000465.3(BARD1):c.364+2098T>C 182757077 MedGen:C0027672,SNOMED CT:C0027672 2 215654923 215654923 A G 225258 single nucleotide variant NM_000465.3(BARD1):c.1904-699T>C 869312502 MedGen:C0027672,SNOMED CT:C0027672 2 214731207 214731207 A G 225258 single nucleotide variant NM_000465.3(BARD1):c.1904-699T>C 869312502 MedGen:C0027672,SNOMED CT:C0027672 2 215595931 215595931 A G 225259 single nucleotide variant NM_000465.3(BARD1):c.1569-6332G>T 869312503 MedGen:C0027672,SNOMED CT:C0027672 2 214758887 214758887 C A 225259 single nucleotide variant NM_000465.3(BARD1):c.1569-6332G>T 869312503 MedGen:C0027672,SNOMED CT:C0027672 2 215623611 215623611 C A 225260 single nucleotide variant NM_000465.3(BARD1):c.1677+2891T>C 869312504 MedGen:C0027672,SNOMED CT:C0027672 2 214749556 214749556 A G 225260 single nucleotide variant NM_000465.3(BARD1):c.1677+2891T>C 869312504 MedGen:C0027672,SNOMED CT:C0027672 2 215614280 215614280 A G 225261 single nucleotide variant NM_000465.3(BARD1):c.1903+2056T>C 754305525 MedGen:C0027672,SNOMED CT:C0027672 2 214743011 214743011 A G 225261 single nucleotide variant NM_000465.3(BARD1):c.1903+2056T>C 754305525 MedGen:C0027672,SNOMED CT:C0027672 2 215607735 215607735 A G 225262 single nucleotide variant NM_000465.3(BARD1):c.364+3900A>G 869312505 MedGen:C0027672,SNOMED CT:C0027672 2 214788397 214788397 T C 225262 single nucleotide variant NM_000465.3(BARD1):c.364+3900A>G 869312505 MedGen:C0027672,SNOMED CT:C0027672 2 215653121 215653121 T C 225263 single nucleotide variant NM_000465.3(BARD1):c.1568+1670G>C 745401077 MedGen:C0027672,SNOMED CT:C0027672 2 214765812 214765812 C G 225263 single nucleotide variant NM_000465.3(BARD1):c.1568+1670G>C 745401077 MedGen:C0027672,SNOMED CT:C0027672 2 215630536 215630536 C G 225264 single nucleotide variant NM_000465.3(BARD1):c.1569-6730T>C 11689134 MedGen:C0027672,SNOMED CT:C0027672 2 214759285 214759285 A G 225264 single nucleotide variant NM_000465.3(BARD1):c.1569-6730T>C 11689134 MedGen:C0027672,SNOMED CT:C0027672 2 215624009 215624009 A G 225265 single nucleotide variant NM_000465.3(BARD1):c.1395+653G>A 548926631 MedGen:C0027672,SNOMED CT:C0027672 2 214768579 214768579 C T 225265 single nucleotide variant NM_000465.3(BARD1):c.1395+653G>A 548926631 MedGen:C0027672,SNOMED CT:C0027672 2 215633303 215633303 C T 225266 single nucleotide variant NM_000465.3(BARD1):c.1677+882T>C 144407674 MedGen:C0027672,SNOMED CT:C0027672 2 214751565 214751565 A G 225266 single nucleotide variant NM_000465.3(BARD1):c.1677+882T>C 144407674 MedGen:C0027672,SNOMED CT:C0027672 2 215616289 215616289 A G 232312 single nucleotide variant NM_000465.3(BARD1):c.2150T>A (p.Ile717Asn) 876658526 MedGen:C0027672,SNOMED CT:C0027672 2 214728860 214728860 A T 232313 single nucleotide variant NM_000465.3(BARD1):c.2138T>G (p.Val713Gly) 876658193 MedGen:C0027672,SNOMED CT:C0027672 2 215593596 215593596 A C 232301 single nucleotide variant NM_000465.3(BARD1):c.2333G>A (p.Ter778=) 776958611 MedGen:C0027672,SNOMED CT:C0027672 2 215593401 215593401 C T 232301 single nucleotide variant NM_000465.3(BARD1):c.2333G>A (p.Ter778=) 776958611 MedGen:C0027672,SNOMED CT:C0027672 2 214728677 214728677 C T 232302 deletion NM_000465.3(BARD1):c.2300_2301delTG (p.Val767Aspfs) 750413473 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215593433 215593434 CA - 232302 deletion NM_000465.3(BARD1):c.2300_2301delTG (p.Val767Aspfs) 750413473 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214728709 214728710 CA - 232303 single nucleotide variant NM_000465.3(BARD1):c.2263G>A (p.Val755Ile) 876659038 MedGen:C0027672,SNOMED CT:C0027672 2 215593471 215593471 C T 232303 single nucleotide variant NM_000465.3(BARD1):c.2263G>A (p.Val755Ile) 876659038 MedGen:C0027672,SNOMED CT:C0027672 2 214728747 214728747 C T 232304 single nucleotide variant NM_000465.3(BARD1):c.2224T>A (p.Leu742Met) 876659765 MedGen:C0027672,SNOMED CT:C0027672 2 215593510 215593510 A T 232304 single nucleotide variant NM_000465.3(BARD1):c.2224T>A (p.Leu742Met) 876659765 MedGen:C0027672,SNOMED CT:C0027672 2 214728786 214728786 A T 232305 single nucleotide variant NM_000465.3(BARD1):c.2215T>G (p.Tyr739Asp) 876660746 MedGen:C0027672,SNOMED CT:C0027672 2 215593519 215593519 A C 232305 single nucleotide variant NM_000465.3(BARD1):c.2215T>G (p.Tyr739Asp) 876660746 MedGen:C0027672,SNOMED CT:C0027672 2 214728795 214728795 A C 232306 single nucleotide variant NM_000465.3(BARD1):c.2209A>G (p.Ile737Val) 761655616 MedGen:C0027672,SNOMED CT:C0027672 2 215593525 215593525 T C 232306 single nucleotide variant NM_000465.3(BARD1):c.2209A>G (p.Ile737Val) 761655616 MedGen:C0027672,SNOMED CT:C0027672 2 214728801 214728801 T C 232307 single nucleotide variant NM_000465.3(BARD1):c.2189A>C (p.Gln730Pro) 876658253 MedGen:C0027672,SNOMED CT:C0027672 2 215593545 215593545 T G 232307 single nucleotide variant NM_000465.3(BARD1):c.2189A>C (p.Gln730Pro) 876658253 MedGen:C0027672,SNOMED CT:C0027672 2 214728821 214728821 T G 232308 single nucleotide variant NM_000465.3(BARD1):c.2181T>G (p.Asp727Glu) 876660554 MedGen:C0027672,SNOMED CT:C0027672 2 214728829 214728829 A C 232308 single nucleotide variant NM_000465.3(BARD1):c.2181T>G (p.Asp727Glu) 876660554 MedGen:C0027672,SNOMED CT:C0027672 2 215593553 215593553 A C 232309 single nucleotide variant NM_000465.3(BARD1):c.2176C>T (p.Pro726Ser) 876658286 MedGen:C0027672,SNOMED CT:C0027672 2 215593558 215593558 G A 232309 single nucleotide variant NM_000465.3(BARD1):c.2176C>T (p.Pro726Ser) 876658286 MedGen:C0027672,SNOMED CT:C0027672 2 214728834 214728834 G A 232310 single nucleotide variant NM_000465.3(BARD1):c.2172G>A (p.Ala724=) 143331809 MedGen:C0027672,SNOMED CT:C0027672 2 215593562 215593562 C T 232310 single nucleotide variant NM_000465.3(BARD1):c.2172G>A (p.Ala724=) 143331809 MedGen:C0027672,SNOMED CT:C0027672 2 214728838 214728838 C T 232311 single nucleotide variant NM_000465.3(BARD1):c.2160C>T (p.Val720=) 137888190 MedGen:C0027672,SNOMED CT:C0027672 2 215593574 215593574 G A 232311 single nucleotide variant NM_000465.3(BARD1):c.2160C>T (p.Val720=) 137888190 MedGen:C0027672,SNOMED CT:C0027672 2 214728850 214728850 G A 232312 single nucleotide variant NM_000465.3(BARD1):c.2150T>A (p.Ile717Asn) 876658526 MedGen:C0027672,SNOMED CT:C0027672 2 215593584 215593584 A T 232313 single nucleotide variant NM_000465.3(BARD1):c.2138T>G (p.Val713Gly) 876658193 MedGen:C0027672,SNOMED CT:C0027672 2 214728872 214728872 A C 232314 single nucleotide variant NM_000465.3(BARD1):c.2136C>T (p.Asp712=) 759046999 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215593598 215593598 G A 232314 single nucleotide variant NM_000465.3(BARD1):c.2136C>T (p.Asp712=) 759046999 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214728874 214728874 G A 232315 single nucleotide variant NM_000465.3(BARD1):c.2110A>G (p.Ser704Gly) 876658687 MedGen:C0027672,SNOMED CT:C0027672 2 215593624 215593624 T C 232315 single nucleotide variant NM_000465.3(BARD1):c.2110A>G (p.Ser704Gly) 876658687 MedGen:C0027672,SNOMED CT:C0027672 2 214728900 214728900 T C 232316 single nucleotide variant NM_000465.3(BARD1):c.2097G>T (p.Gly699=) 876659210 MedGen:C0027672,SNOMED CT:C0027672 2 215593637 215593637 C A 232316 single nucleotide variant NM_000465.3(BARD1):c.2097G>T (p.Gly699=) 876659210 MedGen:C0027672,SNOMED CT:C0027672 2 214728913 214728913 C A 232317 single nucleotide variant NM_000465.3(BARD1):c.2054A>G (p.His685Arg) 368488821 MedGen:C0027672,SNOMED CT:C0027672 2 215593680 215593680 T C 232317 single nucleotide variant NM_000465.3(BARD1):c.2054A>G (p.His685Arg) 368488821 MedGen:C0027672,SNOMED CT:C0027672 2 214728956 214728956 T C 232318 single nucleotide variant NM_000465.3(BARD1):c.2029T>C (p.Phe677Leu) 746790711 MedGen:C0027672,SNOMED CT:C0027672 2 215593705 215593705 A G 232318 single nucleotide variant NM_000465.3(BARD1):c.2029T>C (p.Phe677Leu) 746790711 MedGen:C0027672,SNOMED CT:C0027672 2 214728981 214728981 A G 232319 single nucleotide variant NM_000465.3(BARD1):c.2002-2A>T 876658260 MedGen:C0027672,SNOMED CT:C0027672 2 215593734 215593734 T A 232319 single nucleotide variant NM_000465.3(BARD1):c.2002-2A>T 876658260 MedGen:C0027672,SNOMED CT:C0027672 2 214729010 214729010 T A 232320 single nucleotide variant NM_000465.3(BARD1):c.1993G>A (p.Glu665Lys) 876658544 MedGen:C0027672,SNOMED CT:C0027672 2 215595143 215595143 C T 232320 single nucleotide variant NM_000465.3(BARD1):c.1993G>A (p.Glu665Lys) 876658544 MedGen:C0027672,SNOMED CT:C0027672 2 214730419 214730419 C T 232321 single nucleotide variant NM_000465.3(BARD1):c.1979G>T (p.Ser660Ile) 876658774 MedGen:C0027672,SNOMED CT:C0027672 2 215595157 215595157 C A 232321 single nucleotide variant NM_000465.3(BARD1):c.1979G>T (p.Ser660Ile) 876658774 MedGen:C0027672,SNOMED CT:C0027672 2 214730433 214730433 C A 232322 single nucleotide variant NM_000465.3(BARD1):c.1973G>A (p.Arg658His) 377227840 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215595163 215595163 C T 232331 single nucleotide variant NM_000465.3(BARD1):c.1904-3C>T 876660360 MedGen:C0027672,SNOMED CT:C0027672 2 215595235 215595235 G A 232322 single nucleotide variant NM_000465.3(BARD1):c.1973G>A (p.Arg658His) 377227840 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214730439 214730439 C T 232323 single nucleotide variant NM_000465.3(BARD1):c.1967G>T (p.Gly656Val) 572554455 MedGen:C0027672,SNOMED CT:C0027672 2 215595169 215595169 C A 232323 single nucleotide variant NM_000465.3(BARD1):c.1967G>T (p.Gly656Val) 572554455 MedGen:C0027672,SNOMED CT:C0027672 2 214730445 214730445 C A 232324 single nucleotide variant NM_000465.3(BARD1):c.1960C>G (p.Pro654Ala) 876658741 MedGen:C0027672,SNOMED CT:C0027672 2 215595176 215595176 G C 232324 single nucleotide variant NM_000465.3(BARD1):c.1960C>G (p.Pro654Ala) 876658741 MedGen:C0027672,SNOMED CT:C0027672 2 214730452 214730452 G C 232325 single nucleotide variant NM_000465.3(BARD1):c.1955A>G (p.Glu652Gly) 876658395 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215595181 215595181 T C 232325 single nucleotide variant NM_000465.3(BARD1):c.1955A>G (p.Glu652Gly) 876658395 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214730457 214730457 T C 232326 single nucleotide variant NM_000465.3(BARD1):c.1949A>T (p.Lys650Met) 876659021 MedGen:C0027672,SNOMED CT:C0027672 2 215595187 215595187 T A 232326 single nucleotide variant NM_000465.3(BARD1):c.1949A>T (p.Lys650Met) 876659021 MedGen:C0027672,SNOMED CT:C0027672 2 214730463 214730463 T A 232327 indel NM_000465.3(BARD1):c.1945_1946delGAinsTT (p.Glu649Leu) 876659046 MedGen:C0027672,SNOMED CT:C0027672 2 215595190 215595191 TC AA 232327 indel NM_000465.3(BARD1):c.1945_1946delGAinsTT (p.Glu649Leu) 876659046 MedGen:C0027672,SNOMED CT:C0027672 2 214730466 214730467 TC AA 232328 single nucleotide variant NM_000465.3(BARD1):c.1922G>A (p.Arg641Gln) 752870879 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215595214 215595214 C T 232328 single nucleotide variant NM_000465.3(BARD1):c.1922G>A (p.Arg641Gln) 752870879 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214730490 214730490 C T 232329 single nucleotide variant NM_000465.3(BARD1):c.1914A>G (p.Ala638=) 876658489 MedGen:C0027672,SNOMED CT:C0027672 2 215595222 215595222 T C 232329 single nucleotide variant NM_000465.3(BARD1):c.1914A>G (p.Ala638=) 876658489 MedGen:C0027672,SNOMED CT:C0027672 2 214730498 214730498 T C 232330 deletion NM_000465.3(BARD1):c.1904-2delA 876659560 MedGen:C0027672,SNOMED CT:C0027672 2 215595234 215595234 T - 232330 deletion NM_000465.3(BARD1):c.1904-2delA 876659560 MedGen:C0027672,SNOMED CT:C0027672 2 214730510 214730510 T - 232331 single nucleotide variant NM_000465.3(BARD1):c.1904-3C>T 876660360 MedGen:C0027672,SNOMED CT:C0027672 2 214730511 214730511 G A 232332 single nucleotide variant NM_000465.3(BARD1):c.1903+1G>T 876660237 MedGen:C0027672,SNOMED CT:C0027672 2 214745066 214745066 C A 232332 single nucleotide variant NM_000465.3(BARD1):c.1903+1G>T 876660237 MedGen:C0027672,SNOMED CT:C0027672 2 215609790 215609790 C A 232333 deletion NM_000465.3(BARD1):c.1872delT (p.Leu625Serfs) 876659572 MedGen:C0027672,SNOMED CT:C0027672 2 215609822 215609822 A - 232333 deletion NM_000465.3(BARD1):c.1872delT (p.Leu625Serfs) 876659572 MedGen:C0027672,SNOMED CT:C0027672 2 214745098 214745098 A - 232334 single nucleotide variant NM_000465.3(BARD1):c.1859G>A (p.Cys620Tyr) 763018536 MedGen:C0027672,SNOMED CT:C0027672 2 214745111 214745111 C T 232334 single nucleotide variant NM_000465.3(BARD1):c.1859G>A (p.Cys620Tyr) 763018536 MedGen:C0027672,SNOMED CT:C0027672 2 215609835 215609835 C T 232335 single nucleotide variant NM_000465.3(BARD1):c.1810+1G>A 876659894 MedGen:C0027672,SNOMED CT:C0027672 2 215610445 215610445 C T 232335 single nucleotide variant NM_000465.3(BARD1):c.1810+1G>A 876659894 MedGen:C0027672,SNOMED CT:C0027672 2 214745721 214745721 C T 232336 single nucleotide variant NM_000465.3(BARD1):c.1768G>T (p.Val590Leu) 876660261 MedGen:C0027672,SNOMED CT:C0027672 2 215610488 215610488 C A 232336 single nucleotide variant NM_000465.3(BARD1):c.1768G>T (p.Val590Leu) 876660261 MedGen:C0027672,SNOMED CT:C0027672 2 214745764 214745764 C A 232337 single nucleotide variant NM_000465.3(BARD1):c.1754T>G (p.Leu585Arg) 786201905 MedGen:C0027672,SNOMED CT:C0027672 2 214745778 214745778 A C 232337 single nucleotide variant NM_000465.3(BARD1):c.1754T>G (p.Leu585Arg) 786201905 MedGen:C0027672,SNOMED CT:C0027672 2 215610502 215610502 A C 232338 single nucleotide variant NM_000465.3(BARD1):c.1752G>A (p.Met584Ile) 876658230 MedGen:C0027672,SNOMED CT:C0027672 2 215610504 215610504 C T 232338 single nucleotide variant NM_000465.3(BARD1):c.1752G>A (p.Met584Ile) 876658230 MedGen:C0027672,SNOMED CT:C0027672 2 214745780 214745780 C T 232339 single nucleotide variant NM_000465.3(BARD1):c.1746G>A (p.Gln582=) 876660167 MedGen:C0027672,SNOMED CT:C0027672 2 214745786 214745786 C T 232339 single nucleotide variant NM_000465.3(BARD1):c.1746G>A (p.Gln582=) 876660167 MedGen:C0027672,SNOMED CT:C0027672 2 215610510 215610510 C T 232340 single nucleotide variant NM_000465.3(BARD1):c.1737A>G (p.Ser579=) 876659896 MedGen:C0027672,SNOMED CT:C0027672 2 215610519 215610519 T C 232340 single nucleotide variant NM_000465.3(BARD1):c.1737A>G (p.Ser579=) 876659896 MedGen:C0027672,SNOMED CT:C0027672 2 214745795 214745795 T C 232341 single nucleotide variant NM_000465.3(BARD1):c.1734T>A (p.Ser578=) 373449212 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215610522 215610522 A T 232351 single nucleotide variant NM_000465.3(BARD1):c.1639G>T (p.Glu547Ter) 876658429 MedGen:C0027672,SNOMED CT:C0027672 2 214752485 214752485 C A 232341 single nucleotide variant NM_000465.3(BARD1):c.1734T>A (p.Ser578=) 373449212 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214745798 214745798 A T 232342 single nucleotide variant NM_000465.3(BARD1):c.1729C>T (p.Leu577=) 749756887 MedGen:C0027672,SNOMED CT:C0027672 2 215610527 215610527 G A 232342 single nucleotide variant NM_000465.3(BARD1):c.1729C>T (p.Leu577=) 749756887 MedGen:C0027672,SNOMED CT:C0027672 2 214745803 214745803 G A 232343 single nucleotide variant NM_000465.3(BARD1):c.1724G>A (p.Ser575Asn) 774352844 MedGen:C0027672,SNOMED CT:C0027672 2 215610532 215610532 C T 232343 single nucleotide variant NM_000465.3(BARD1):c.1724G>A (p.Ser575Asn) 774352844 MedGen:C0027672,SNOMED CT:C0027672 2 214745808 214745808 C T 232344 single nucleotide variant NM_000465.3(BARD1):c.1720G>A (p.Gly574Ser) 876660437 MedGen:C0027672,SNOMED CT:C0027672 2 214745812 214745812 C T 232344 single nucleotide variant NM_000465.3(BARD1):c.1720G>A (p.Gly574Ser) 876660437 MedGen:C0027672,SNOMED CT:C0027672 2 215610536 215610536 C T 232345 single nucleotide variant NM_000465.3(BARD1):c.1714C>T (p.Leu572Phe) 772222117 MedGen:C0027672,SNOMED CT:C0027672 2 215610542 215610542 G A 232345 single nucleotide variant NM_000465.3(BARD1):c.1714C>T (p.Leu572Phe) 772222117 MedGen:C0027672,SNOMED CT:C0027672 2 214745818 214745818 G A 232346 single nucleotide variant NM_000465.3(BARD1):c.1708C>G (p.Leu570Val) 876659288 MedGen:C0027672,SNOMED CT:C0027672 2 215610548 215610548 G C 232346 single nucleotide variant NM_000465.3(BARD1):c.1708C>G (p.Leu570Val) 876659288 MedGen:C0027672,SNOMED CT:C0027672 2 214745824 214745824 G C 232347 single nucleotide variant NM_000465.3(BARD1):c.1689G>A (p.Gly563=) 762745326 MedGen:C0027672,SNOMED CT:C0027672 2 214745843 214745843 C T 232347 single nucleotide variant NM_000465.3(BARD1):c.1689G>A (p.Gly563=) 762745326 MedGen:C0027672,SNOMED CT:C0027672 2 215610567 215610567 C T 232348 single nucleotide variant NM_000465.3(BARD1):c.1684A>T (p.Thr562Ser) 876659576 MedGen:C0027672,SNOMED CT:C0027672 2 215610572 215610572 T A 232348 single nucleotide variant NM_000465.3(BARD1):c.1684A>T (p.Thr562Ser) 876659576 MedGen:C0027672,SNOMED CT:C0027672 2 214745848 214745848 T A 232349 single nucleotide variant NM_000465.3(BARD1):c.1655C>G (p.Ser552Cys) 876660617 MedGen:C0027672,SNOMED CT:C0027672 2 214752469 214752469 G C 232349 single nucleotide variant NM_000465.3(BARD1):c.1655C>G (p.Ser552Cys) 876660617 MedGen:C0027672,SNOMED CT:C0027672 2 215617193 215617193 G C 232350 single nucleotide variant NM_000465.3(BARD1):c.1653A>G (p.Ser551=) 876660383 MedGen:C0027672,SNOMED CT:C0027672 2 215617195 215617195 T C 232350 single nucleotide variant NM_000465.3(BARD1):c.1653A>G (p.Ser551=) 876660383 MedGen:C0027672,SNOMED CT:C0027672 2 214752471 214752471 T C 232351 single nucleotide variant NM_000465.3(BARD1):c.1639G>T (p.Glu547Ter) 876658429 MedGen:C0027672,SNOMED CT:C0027672 2 215617209 215617209 C A 232352 single nucleotide variant NM_000465.3(BARD1):c.1634T>C (p.Leu545Pro) 876658145 MedGen:C0027672,SNOMED CT:C0027672 2 215617214 215617214 A G 232352 single nucleotide variant NM_000465.3(BARD1):c.1634T>C (p.Leu545Pro) 876658145 MedGen:C0027672,SNOMED CT:C0027672 2 214752490 214752490 A G 232353 single nucleotide variant NM_000465.3(BARD1):c.1626A>C (p.Leu542=) 786201551 MedGen:C0027672,SNOMED CT:C0027672 2 215617222 215617222 T G 232353 single nucleotide variant NM_000465.3(BARD1):c.1626A>C (p.Leu542=) 786201551 MedGen:C0027672,SNOMED CT:C0027672 2 214752498 214752498 T G 232354 single nucleotide variant NM_000465.3(BARD1):c.1623G>A (p.Ser541=) 758552128 MedGen:C0027672,SNOMED CT:C0027672 2 215617225 215617225 C T 232354 single nucleotide variant NM_000465.3(BARD1):c.1623G>A (p.Ser541=) 758552128 MedGen:C0027672,SNOMED CT:C0027672 2 214752501 214752501 C T 232355 single nucleotide variant NM_000465.3(BARD1):c.1598A>T (p.Tyr533Phe) 761673463 MedGen:C0027672,SNOMED CT:C0027672 2 215617250 215617250 T A 232355 single nucleotide variant NM_000465.3(BARD1):c.1598A>T (p.Tyr533Phe) 761673463 MedGen:C0027672,SNOMED CT:C0027672 2 214752526 214752526 T A 232356 single nucleotide variant NM_000465.3(BARD1):c.1573A>G (p.Ile525Val) 536711200 MedGen:C0027672,SNOMED CT:C0027672 2 215617275 215617275 T C 232356 single nucleotide variant NM_000465.3(BARD1):c.1573A>G (p.Ile525Val) 536711200 MedGen:C0027672,SNOMED CT:C0027672 2 214752551 214752551 T C 232357 single nucleotide variant NM_000465.3(BARD1):c.1564G>T (p.Ala522Ser) 730881419 MedGen:C0027672,SNOMED CT:C0027672 2 215632210 215632210 C A 232357 single nucleotide variant NM_000465.3(BARD1):c.1564G>T (p.Ala522Ser) 730881419 MedGen:C0027672,SNOMED CT:C0027672 2 214767486 214767486 C A 232358 single nucleotide variant NM_000465.3(BARD1):c.1547A>T (p.Tyr516Phe) 876660325 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214767503 214767503 T A 232358 single nucleotide variant NM_000465.3(BARD1):c.1547A>T (p.Tyr516Phe) 876660325 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215632227 215632227 T A 232359 single nucleotide variant NM_000465.3(BARD1):c.1543T>C (p.Ser515Pro) 876659146 MedGen:C0027672,SNOMED CT:C0027672 2 215632231 215632231 A G 232359 single nucleotide variant NM_000465.3(BARD1):c.1543T>C (p.Ser515Pro) 876659146 MedGen:C0027672,SNOMED CT:C0027672 2 214767507 214767507 A G 232360 single nucleotide variant NM_000465.3(BARD1):c.1525A>G (p.Ile509Val) 876658576 MedGen:C0027672,SNOMED CT:C0027672 2 215632249 215632249 T C 232360 single nucleotide variant NM_000465.3(BARD1):c.1525A>G (p.Ile509Val) 876658576 MedGen:C0027672,SNOMED CT:C0027672 2 214767525 214767525 T C 232361 single nucleotide variant NM_000465.3(BARD1):c.1502C>G (p.Ala501Gly) 876660659 MedGen:C0027672,SNOMED CT:C0027672 2 214767548 214767548 G C 232361 single nucleotide variant NM_000465.3(BARD1):c.1502C>G (p.Ala501Gly) 876660659 MedGen:C0027672,SNOMED CT:C0027672 2 215632272 215632272 G C 232362 single nucleotide variant NM_000465.3(BARD1):c.1501G>A (p.Ala501Thr) 876658174 MedGen:C0027672,SNOMED CT:C0027672 2 215632273 215632273 C T 232362 single nucleotide variant NM_000465.3(BARD1):c.1501G>A (p.Ala501Thr) 876658174 MedGen:C0027672,SNOMED CT:C0027672 2 214767549 214767549 C T 232363 single nucleotide variant NM_000465.3(BARD1):c.1479A>C (p.Gln493His) 375029767 MedGen:C0027672,SNOMED CT:C0027672 2 215632295 215632295 T G 232363 single nucleotide variant NM_000465.3(BARD1):c.1479A>C (p.Gln493His) 375029767 MedGen:C0027672,SNOMED CT:C0027672 2 214767571 214767571 T G 232364 single nucleotide variant NM_000465.3(BARD1):c.1462A>G (p.Asn488Asp) 876659573 MedGen:C0027672,SNOMED CT:C0027672 2 215632312 215632312 T C 232364 single nucleotide variant NM_000465.3(BARD1):c.1462A>G (p.Asn488Asp) 876659573 MedGen:C0027672,SNOMED CT:C0027672 2 214767588 214767588 T C 232365 single nucleotide variant NM_000465.3(BARD1):c.1452G>A (p.Lys484=) 201841770 MedGen:C0027672,SNOMED CT:C0027672 2 215632322 215632322 C T 232365 single nucleotide variant NM_000465.3(BARD1):c.1452G>A (p.Lys484=) 201841770 MedGen:C0027672,SNOMED CT:C0027672 2 214767598 214767598 C T 232366 single nucleotide variant NM_000465.3(BARD1):c.1380T>A (p.Ala460=) 778684915 MedGen:C0027672,SNOMED CT:C0027672 2 215633971 215633971 A T 232366 single nucleotide variant NM_000465.3(BARD1):c.1380T>A (p.Ala460=) 778684915 MedGen:C0027672,SNOMED CT:C0027672 2 214769247 214769247 A T 232367 single nucleotide variant NM_000465.3(BARD1):c.1373A>T (p.Asp458Val) 876660108 MedGen:C0027672,SNOMED CT:C0027672 2 215633978 215633978 T A 232367 single nucleotide variant NM_000465.3(BARD1):c.1373A>T (p.Asp458Val) 876660108 MedGen:C0027672,SNOMED CT:C0027672 2 214769254 214769254 T A 232368 single nucleotide variant NM_000465.3(BARD1):c.1361C>T (p.Pro454Leu) 772285343 MedGen:C0027672,SNOMED CT:C0027672 2 215633990 215633990 G A 232368 single nucleotide variant NM_000465.3(BARD1):c.1361C>T (p.Pro454Leu) 772285343 MedGen:C0027672,SNOMED CT:C0027672 2 214769266 214769266 G A 232369 single nucleotide variant NM_000465.3(BARD1):c.1353A>T (p.Gly451=) 369564500 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214769274 214769274 T A 232369 single nucleotide variant NM_000465.3(BARD1):c.1353A>T (p.Gly451=) 369564500 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215633998 215633998 T A 232370 single nucleotide variant NM_000465.3(BARD1):c.1350T>G (p.Asn450Lys) 876660753 MedGen:C0027672,SNOMED CT:C0027672 2 215634001 215634001 A C 232370 single nucleotide variant NM_000465.3(BARD1):c.1350T>G (p.Asn450Lys) 876660753 MedGen:C0027672,SNOMED CT:C0027672 2 214769277 214769277 A C 232371 duplication NM_000465.3(BARD1):c.1349dupA (p.Asn450Lysfs) 876660390 MedGen:C0027672,SNOMED CT:C0027672 2 215634002 215634002 T TT 232371 duplication NM_000465.3(BARD1):c.1349dupA (p.Asn450Lysfs) 876660390 MedGen:C0027672,SNOMED CT:C0027672 2 214769278 214769278 T TT 232372 single nucleotide variant NM_000465.3(BARD1):c.1340T>C (p.Leu447Pro) 765495837 MedGen:C0027672,SNOMED CT:C0027672 2 214769287 214769287 A G 232372 single nucleotide variant NM_000465.3(BARD1):c.1340T>C (p.Leu447Pro) 765495837 MedGen:C0027672,SNOMED CT:C0027672 2 215634011 215634011 A G 232373 single nucleotide variant NM_000465.3(BARD1):c.1322T>C (p.Ile441Thr) 876660006 MedGen:C0027672,SNOMED CT:C0027672 2 214769305 214769305 A G 232373 single nucleotide variant NM_000465.3(BARD1):c.1322T>C (p.Ile441Thr) 876660006 MedGen:C0027672,SNOMED CT:C0027672 2 215634029 215634029 A G 232374 single nucleotide variant NM_000465.3(BARD1):c.1318G>T (p.Asp440Tyr) 876658999 MedGen:C0027672,SNOMED CT:C0027672 2 215634033 215634033 C A 232374 single nucleotide variant NM_000465.3(BARD1):c.1318G>T (p.Asp440Tyr) 876658999 MedGen:C0027672,SNOMED CT:C0027672 2 214769309 214769309 C A 232375 single nucleotide variant NM_000465.3(BARD1):c.1311T>C (p.Ile437=) 876659789 MedGen:C0027672,SNOMED CT:C0027672 2 215645287 215645287 A G 232375 single nucleotide variant NM_000465.3(BARD1):c.1311T>C (p.Ile437=) 876659789 MedGen:C0027672,SNOMED CT:C0027672 2 214780563 214780563 A G 232376 single nucleotide variant NM_000465.3(BARD1):c.1305T>G (p.Ala435=) 372679962 MedGen:C0027672,SNOMED CT:C0027672 2 215645293 215645293 A C 232376 single nucleotide variant NM_000465.3(BARD1):c.1305T>G (p.Ala435=) 372679962 MedGen:C0027672,SNOMED CT:C0027672 2 214780569 214780569 A C 232377 single nucleotide variant NM_000465.3(BARD1):c.1280G>T (p.Arg427Ile) 876660639 MedGen:C0027672,SNOMED CT:C0027672 2 214780594 214780594 C A 232377 single nucleotide variant NM_000465.3(BARD1):c.1280G>T (p.Arg427Ile) 876660639 MedGen:C0027672,SNOMED CT:C0027672 2 215645318 215645318 C A 232378 single nucleotide variant NM_000465.3(BARD1):c.1274A>G (p.Asn425Ser) 876659775 MedGen:C0027672,SNOMED CT:C0027672 2 215645324 215645324 T C 232378 single nucleotide variant NM_000465.3(BARD1):c.1274A>G (p.Asn425Ser) 876659775 MedGen:C0027672,SNOMED CT:C0027672 2 214780600 214780600 T C 232379 deletion NM_000465.3(BARD1):c.1270delA (p.Arg424Glufs) 876660911 MedGen:C0027672,SNOMED CT:C0027672 2 215645328 215645328 T - 232379 deletion NM_000465.3(BARD1):c.1270delA (p.Arg424Glufs) 876660911 MedGen:C0027672,SNOMED CT:C0027672 2 214780604 214780604 T - 232380 single nucleotide variant NM_000465.3(BARD1):c.1265T>C (p.Val422Ala) 76824305 MedGen:C0027672,SNOMED CT:C0027672 2 215645333 215645333 A G 232380 single nucleotide variant NM_000465.3(BARD1):c.1265T>C (p.Val422Ala) 76824305 MedGen:C0027672,SNOMED CT:C0027672 2 214780609 214780609 A G 232381 single nucleotide variant NM_000465.3(BARD1):c.1264G>A (p.Val422Met) 876660910 MedGen:C0027672,SNOMED CT:C0027672 2 215645334 215645334 C T 232381 single nucleotide variant NM_000465.3(BARD1):c.1264G>A (p.Val422Met) 876660910 MedGen:C0027672,SNOMED CT:C0027672 2 214780610 214780610 C T 232382 single nucleotide variant NM_000465.3(BARD1):c.1235C>T (p.Ser412Leu) 876660778 MedGen:C0027672,SNOMED CT:C0027672 2 215645363 215645363 G A 232382 single nucleotide variant NM_000465.3(BARD1):c.1235C>T (p.Ser412Leu) 876660778 MedGen:C0027672,SNOMED CT:C0027672 2 214780639 214780639 G A 232383 single nucleotide variant NM_000465.3(BARD1):c.1216C>T (p.Arg406Ter) 377153250 MedGen:C0027672,SNOMED CT:C0027672 2 215645382 215645382 G A 232383 single nucleotide variant NM_000465.3(BARD1):c.1216C>T (p.Arg406Ter) 377153250 MedGen:C0027672,SNOMED CT:C0027672 2 214780658 214780658 G A 232384 single nucleotide variant NM_000465.3(BARD1):c.1213A>G (p.Arg405Gly) 876659886 MedGen:C0027672,SNOMED CT:C0027672 2 215645385 215645385 T C 232384 single nucleotide variant NM_000465.3(BARD1):c.1213A>G (p.Arg405Gly) 876659886 MedGen:C0027672,SNOMED CT:C0027672 2 214780661 214780661 T C 232385 single nucleotide variant NM_000465.3(BARD1):c.1200T>C (p.Ser400=) 876659685 MedGen:C0027672,SNOMED CT:C0027672 2 215645398 215645398 A G 232385 single nucleotide variant NM_000465.3(BARD1):c.1200T>C (p.Ser400=) 876659685 MedGen:C0027672,SNOMED CT:C0027672 2 214780674 214780674 A G 232386 single nucleotide variant NM_000465.3(BARD1):c.1188T>C (p.Pro396=) 876658498 MedGen:C0027672,SNOMED CT:C0027672 2 215645410 215645410 A G 232386 single nucleotide variant NM_000465.3(BARD1):c.1188T>C (p.Pro396=) 876658498 MedGen:C0027672,SNOMED CT:C0027672 2 214780686 214780686 A G 232387 single nucleotide variant NM_000465.3(BARD1):c.1161C>T (p.Phe387=) 553790960 MedGen:C0027672,SNOMED CT:C0027672 2 214780713 214780713 G A 232387 single nucleotide variant NM_000465.3(BARD1):c.1161C>T (p.Phe387=) 553790960 MedGen:C0027672,SNOMED CT:C0027672 2 215645437 215645437 G A 232388 single nucleotide variant NM_000465.3(BARD1):c.1138A>G (p.Asn380Asp) 876658971 MedGen:C0027672,SNOMED CT:C0027672 2 215645460 215645460 T C 232388 single nucleotide variant NM_000465.3(BARD1):c.1138A>G (p.Asn380Asp) 876658971 MedGen:C0027672,SNOMED CT:C0027672 2 214780736 214780736 T C 232389 single nucleotide variant NM_000465.3(BARD1):c.1107A>T (p.Lys369Asn) 876660211 MedGen:C0027672,SNOMED CT:C0027672 2 215645491 215645491 T A 232389 single nucleotide variant NM_000465.3(BARD1):c.1107A>T (p.Lys369Asn) 876660211 MedGen:C0027672,SNOMED CT:C0027672 2 214780767 214780767 T A 232390 single nucleotide variant NM_000465.3(BARD1):c.1101A>C (p.Ser367=) 876659194 MedGen:C0027672,SNOMED CT:C0027672 2 215645497 215645497 T G 232390 single nucleotide variant NM_000465.3(BARD1):c.1101A>C (p.Ser367=) 876659194 MedGen:C0027672,SNOMED CT:C0027672 2 214780773 214780773 T G 232391 single nucleotide variant NM_000465.3(BARD1):c.1056G>A (p.Val352=) 768469265 MedGen:C0027672,SNOMED CT:C0027672 2 215645542 215645542 C T 232391 single nucleotide variant NM_000465.3(BARD1):c.1056G>A (p.Val352=) 768469265 MedGen:C0027672,SNOMED CT:C0027672 2 214780818 214780818 C T 232392 single nucleotide variant NM_000465.3(BARD1):c.1052C>T (p.Thr351Met) 767208122 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215645546 215645546 G A 232392 single nucleotide variant NM_000465.3(BARD1):c.1052C>T (p.Thr351Met) 767208122 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214780822 214780822 G A 232393 deletion NM_000465.3(BARD1):c.1023delG (p.Ser342Alafs) 876660061 MedGen:C0027672,SNOMED CT:C0027672 2 214780851 214780851 C - 232393 deletion NM_000465.3(BARD1):c.1023delG (p.Ser342Alafs) 876660061 MedGen:C0027672,SNOMED CT:C0027672 2 215645575 215645575 C - 232394 single nucleotide variant NM_000465.3(BARD1):c.994A>C (p.Ile332Leu) 543606863 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215645604 215645604 T G 232394 single nucleotide variant NM_000465.3(BARD1):c.994A>C (p.Ile332Leu) 543606863 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214780880 214780880 T G 232395 single nucleotide variant NM_000465.3(BARD1):c.976A>T (p.Asn326Tyr) 587780038 MedGen:C0027672,SNOMED CT:C0027672 2 214780898 214780898 T A 232395 single nucleotide variant NM_000465.3(BARD1):c.976A>T (p.Asn326Tyr) 587780038 MedGen:C0027672,SNOMED CT:C0027672 2 215645622 215645622 T A 232396 single nucleotide variant NM_000465.3(BARD1):c.975C>T (p.His325=) 876660202 MedGen:C0027672,SNOMED CT:C0027672 2 214780899 214780899 G A 232396 single nucleotide variant NM_000465.3(BARD1):c.975C>T (p.His325=) 876660202 MedGen:C0027672,SNOMED CT:C0027672 2 215645623 215645623 G A 232397 single nucleotide variant NM_000465.3(BARD1):c.954T>C (p.Asn318=) 771502065 MedGen:C0027672,SNOMED CT:C0027672 2 215645644 215645644 A G 232397 single nucleotide variant NM_000465.3(BARD1):c.954T>C (p.Asn318=) 771502065 MedGen:C0027672,SNOMED CT:C0027672 2 214780920 214780920 A G 232398 single nucleotide variant NM_000465.3(BARD1):c.945A>T (p.Pro315=) 876660284 MedGen:C0027672,SNOMED CT:C0027672 2 214780929 214780929 T A 232398 single nucleotide variant NM_000465.3(BARD1):c.945A>T (p.Pro315=) 876660284 MedGen:C0027672,SNOMED CT:C0027672 2 215645653 215645653 T A 232399 single nucleotide variant NM_000465.3(BARD1):c.939T>C (p.Ser313=) 765858289 MedGen:C0027672,SNOMED CT:C0027672 2 215645659 215645659 A G 232399 single nucleotide variant NM_000465.3(BARD1):c.939T>C (p.Ser313=) 765858289 MedGen:C0027672,SNOMED CT:C0027672 2 214780935 214780935 A G 232400 single nucleotide variant NM_000465.3(BARD1):c.907G>A (p.Val303Ile) 375048835 MedGen:C0027672,SNOMED CT:C0027672 2 215645691 215645691 C T 232400 single nucleotide variant NM_000465.3(BARD1):c.907G>A (p.Val303Ile) 375048835 MedGen:C0027672,SNOMED CT:C0027672 2 214780967 214780967 C T 232401 single nucleotide variant NM_000465.3(BARD1):c.896C>G (p.Thr299Ser) 141934748 MedGen:C0027672,SNOMED CT:C0027672 2 215645702 215645702 G C 232401 single nucleotide variant NM_000465.3(BARD1):c.896C>G (p.Thr299Ser) 141934748 MedGen:C0027672,SNOMED CT:C0027672 2 214780978 214780978 G C 232402 single nucleotide variant NM_000465.3(BARD1):c.889G>A (p.Val297Ile) 754720101 MedGen:C0027672,SNOMED CT:C0027672 2 215645709 215645709 C T 232402 single nucleotide variant NM_000465.3(BARD1):c.889G>A (p.Val297Ile) 754720101 MedGen:C0027672,SNOMED CT:C0027672 2 214780985 214780985 C T 232403 single nucleotide variant NM_000465.3(BARD1):c.864T>C (p.Ser288=) 771982631 MedGen:C0027672,SNOMED CT:C0027672 2 215645734 215645734 A G 232403 single nucleotide variant NM_000465.3(BARD1):c.864T>C (p.Ser288=) 771982631 MedGen:C0027672,SNOMED CT:C0027672 2 214781010 214781010 A G 232404 single nucleotide variant NM_000465.3(BARD1):c.853C>G (p.Gln285Glu) 746470339 MedGen:C0027672,SNOMED CT:C0027672 2 215645745 215645745 G C 232404 single nucleotide variant NM_000465.3(BARD1):c.853C>G (p.Gln285Glu) 746470339 MedGen:C0027672,SNOMED CT:C0027672 2 214781021 214781021 G C 232405 deletion NM_000465.3(BARD1):c.838_839delTT (p.Leu280Thrfs) 876659752 MedGen:C0027672,SNOMED CT:C0027672 2 215645759 215645760 AA - 232405 deletion NM_000465.3(BARD1):c.838_839delTT (p.Leu280Thrfs) 876659752 MedGen:C0027672,SNOMED CT:C0027672 2 214781035 214781036 AA - 232406 single nucleotide variant NM_000465.3(BARD1):c.826A>G (p.Thr276Ala) 876659291 MedGen:C0027672,SNOMED CT:C0027672 2 215645772 215645772 T C 232406 single nucleotide variant NM_000465.3(BARD1):c.826A>G (p.Thr276Ala) 876659291 MedGen:C0027672,SNOMED CT:C0027672 2 214781048 214781048 T C 232407 single nucleotide variant NM_000465.3(BARD1):c.823T>A (p.Leu275Ile) 776157713 MedGen:C0027672,SNOMED CT:C0027672 2 215645775 215645775 A T 232407 single nucleotide variant NM_000465.3(BARD1):c.823T>A (p.Leu275Ile) 776157713 MedGen:C0027672,SNOMED CT:C0027672 2 214781051 214781051 A T 232408 single nucleotide variant NM_000465.3(BARD1):c.748T>G (p.Ser250Ala) 570022823 MedGen:C0027672,SNOMED CT:C0027672 2 215645850 215645850 A C 232408 single nucleotide variant NM_000465.3(BARD1):c.748T>G (p.Ser250Ala) 570022823 MedGen:C0027672,SNOMED CT:C0027672 2 214781126 214781126 A C 232409 single nucleotide variant NM_000465.3(BARD1):c.737C>G (p.Pro246Arg) 151325889 MedGen:C0027672,SNOMED CT:C0027672 2 214781137 214781137 G C 232409 single nucleotide variant NM_000465.3(BARD1):c.737C>G (p.Pro246Arg) 151325889 MedGen:C0027672,SNOMED CT:C0027672 2 215645861 215645861 G C 232410 single nucleotide variant NM_000465.3(BARD1):c.729T>C (p.Cys243=) 761986980 MedGen:C0027672,SNOMED CT:C0027672 2 215645869 215645869 A G 232410 single nucleotide variant NM_000465.3(BARD1):c.729T>C (p.Cys243=) 761986980 MedGen:C0027672,SNOMED CT:C0027672 2 214781145 214781145 A G 232411 single nucleotide variant NM_000465.3(BARD1):c.726C>G (p.Phe242Leu) 876659277 MedGen:C0027672,SNOMED CT:C0027672 2 215645872 215645872 G C 232411 single nucleotide variant NM_000465.3(BARD1):c.726C>G (p.Phe242Leu) 876659277 MedGen:C0027672,SNOMED CT:C0027672 2 214781148 214781148 G C 232412 single nucleotide variant NM_000465.3(BARD1):c.722C>A (p.Ser241Tyr) 3738885 MedGen:C0027672,SNOMED CT:C0027672 2 214781152 214781152 G T 232412 single nucleotide variant NM_000465.3(BARD1):c.722C>A (p.Ser241Tyr) 3738885 MedGen:C0027672,SNOMED CT:C0027672 2 215645876 215645876 G T 232413 single nucleotide variant NM_000465.3(BARD1):c.709C>T (p.Gln237Ter) 587780035 MedGen:C0027672,SNOMED CT:C0027672 2 215645889 215645889 G A 232413 single nucleotide variant NM_000465.3(BARD1):c.709C>T (p.Gln237Ter) 587780035 MedGen:C0027672,SNOMED CT:C0027672 2 214781165 214781165 G A 232414 single nucleotide variant NM_000465.3(BARD1):c.676G>C (p.Asp226His) 876659965 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215645922 215645922 C G 232414 single nucleotide variant NM_000465.3(BARD1):c.676G>C (p.Asp226His) 876659965 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214781198 214781198 C G 232415 single nucleotide variant NM_000465.3(BARD1):c.656A>G (p.Asn219Ser) 876660672 MedGen:C0027672,SNOMED CT:C0027672 2 214781218 214781218 T C 232415 single nucleotide variant NM_000465.3(BARD1):c.656A>G (p.Asn219Ser) 876660672 MedGen:C0027672,SNOMED CT:C0027672 2 215645942 215645942 T C 232416 single nucleotide variant NM_000465.3(BARD1):c.617A>G (p.Gln206Arg) 760718143 MedGen:C0027672,SNOMED CT:C0027672 2 215645981 215645981 T C 232416 single nucleotide variant NM_000465.3(BARD1):c.617A>G (p.Gln206Arg) 760718143 MedGen:C0027672,SNOMED CT:C0027672 2 214781257 214781257 T C 232417 single nucleotide variant NM_000465.3(BARD1):c.607G>A (p.Gly203Arg) 730881415 MedGen:C0027672,SNOMED CT:C0027672 2 215645991 215645991 C T 232417 single nucleotide variant NM_000465.3(BARD1):c.607G>A (p.Gly203Arg) 730881415 MedGen:C0027672,SNOMED CT:C0027672 2 214781267 214781267 C T 232418 single nucleotide variant NM_000465.3(BARD1):c.594T>G (p.Ala198=) 373763567 MedGen:C0027672,SNOMED CT:C0027672 2 214781280 214781280 A C 232418 single nucleotide variant NM_000465.3(BARD1):c.594T>G (p.Ala198=) 373763567 MedGen:C0027672,SNOMED CT:C0027672 2 215646004 215646004 A C 232419 single nucleotide variant NM_000465.3(BARD1):c.592G>T (p.Ala198Ser) 748834249 MedGen:C0027672,SNOMED CT:C0027672 2 215646006 215646006 C A 232419 single nucleotide variant NM_000465.3(BARD1):c.592G>T (p.Ala198Ser) 748834249 MedGen:C0027672,SNOMED CT:C0027672 2 214781282 214781282 C A 232420 deletion NM_000465.3(BARD1):c.592delG (p.Ala198Leufs) 876660761 MedGen:C0027672,SNOMED CT:C0027672 2 215646006 215646006 C - 232420 deletion NM_000465.3(BARD1):c.592delG (p.Ala198Leufs) 876660761 MedGen:C0027672,SNOMED CT:C0027672 2 214781282 214781282 C - 232421 single nucleotide variant NM_000465.3(BARD1):c.585T>C (p.Ala195=) 876658532 MedGen:C0027672,SNOMED CT:C0027672 2 215646013 215646013 A G 232421 single nucleotide variant NM_000465.3(BARD1):c.585T>C (p.Ala195=) 876658532 MedGen:C0027672,SNOMED CT:C0027672 2 214781289 214781289 A G 232422 single nucleotide variant NM_000465.3(BARD1):c.568G>T (p.Asp190Tyr) 369561166 MedGen:C0027672,SNOMED CT:C0027672 2 215646030 215646030 C A 232422 single nucleotide variant NM_000465.3(BARD1):c.568G>T (p.Asp190Tyr) 369561166 MedGen:C0027672,SNOMED CT:C0027672 2 214781306 214781306 C A 232423 single nucleotide variant NM_000465.3(BARD1):c.562C>T (p.Pro188Ser) 373249008 MedGen:C0027672,SNOMED CT:C0027672 2 215646036 215646036 G A 232423 single nucleotide variant NM_000465.3(BARD1):c.562C>T (p.Pro188Ser) 373249008 MedGen:C0027672,SNOMED CT:C0027672 2 214781312 214781312 G A 232424 single nucleotide variant NM_000465.3(BARD1):c.556A>G (p.Ser186Gly) 16852741 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215646042 215646042 T C 232424 single nucleotide variant NM_000465.3(BARD1):c.556A>G (p.Ser186Gly) 16852741 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214781318 214781318 T C 232425 single nucleotide variant NM_000465.3(BARD1):c.493A>T (p.Thr165Ser) 876658147 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215646105 215646105 T A 232425 single nucleotide variant NM_000465.3(BARD1):c.493A>T (p.Thr165Ser) 876658147 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214781381 214781381 T A 232426 single nucleotide variant NM_000465.3(BARD1):c.490C>G (p.Gln164Glu) 750350372 MedGen:C0027672,SNOMED CT:C0027672 2 215646108 215646108 G C 232426 single nucleotide variant NM_000465.3(BARD1):c.490C>G (p.Gln164Glu) 750350372 MedGen:C0027672,SNOMED CT:C0027672 2 214781384 214781384 G C 232427 duplication NM_000465.3(BARD1):c.457_460dupAAAG (p.Val154Glufs) 772486760 MedGen:C0027672,SNOMED CT:C0027672 2 215646138 215646141 CTTT CTTTCTTT 232427 duplication NM_000465.3(BARD1):c.457_460dupAAAG (p.Val154Glufs) 772486760 MedGen:C0027672,SNOMED CT:C0027672 2 214781414 214781417 CTTT CTTTCTTT 232428 single nucleotide variant NM_000465.3(BARD1):c.439T>A (p.Phe147Ile) 876658313 MedGen:C0027672,SNOMED CT:C0027672 2 215646159 215646159 A T 232428 single nucleotide variant NM_000465.3(BARD1):c.439T>A (p.Phe147Ile) 876658313 MedGen:C0027672,SNOMED CT:C0027672 2 214781435 214781435 A T 232429 single nucleotide variant NM_000465.3(BARD1):c.400A>G (p.Asn134Asp) 876660852 MedGen:C0027672,SNOMED CT:C0027672 2 215646198 215646198 T C 232429 single nucleotide variant NM_000465.3(BARD1):c.400A>G (p.Asn134Asp) 876660852 MedGen:C0027672,SNOMED CT:C0027672 2 214781474 214781474 T C 232430 single nucleotide variant NM_000465.3(BARD1):c.350A>G (p.Asp117Gly) 876658241 MedGen:C0027672,SNOMED CT:C0027672 2 215657035 215657035 T C 232430 single nucleotide variant NM_000465.3(BARD1):c.350A>G (p.Asp117Gly) 876658241 MedGen:C0027672,SNOMED CT:C0027672 2 214792311 214792311 T C 232431 single nucleotide variant NM_000465.3(BARD1):c.347A>G (p.His116Arg) 773211367 MedGen:C0027672,SNOMED CT:C0027672 2 215657038 215657038 T C 232431 single nucleotide variant NM_000465.3(BARD1):c.347A>G (p.His116Arg) 773211367 MedGen:C0027672,SNOMED CT:C0027672 2 214792314 214792314 T C 232432 single nucleotide variant NM_000465.3(BARD1):c.311T>C (p.Met104Thr) 876659204 MedGen:C0027672,SNOMED CT:C0027672 2 215657074 215657074 A G 232432 single nucleotide variant NM_000465.3(BARD1):c.311T>C (p.Met104Thr) 876659204 MedGen:C0027672,SNOMED CT:C0027672 2 214792350 214792350 A G 232433 single nucleotide variant NM_000465.3(BARD1):c.296G>A (p.Arg99Lys) 876659369 MedGen:C0027672,SNOMED CT:C0027672 2 215657089 215657089 C T 232433 single nucleotide variant NM_000465.3(BARD1):c.296G>A (p.Arg99Lys) 876659369 MedGen:C0027672,SNOMED CT:C0027672 2 214792365 214792365 C T 232434 single nucleotide variant NM_000465.3(BARD1):c.294T>A (p.Asn98Lys) 201798163 MedGen:C0027672,SNOMED CT:C0027672 2 215657091 215657091 A T 232434 single nucleotide variant NM_000465.3(BARD1):c.294T>A (p.Asn98Lys) 201798163 MedGen:C0027672,SNOMED CT:C0027672 2 214792367 214792367 A T 232435 single nucleotide variant NM_000465.3(BARD1):c.281A>C (p.Asp94Ala) 757569689 MedGen:C0027672,SNOMED CT:C0027672 2 215657104 215657104 T G 232435 single nucleotide variant NM_000465.3(BARD1):c.281A>C (p.Asp94Ala) 757569689 MedGen:C0027672,SNOMED CT:C0027672 2 214792380 214792380 T G 232436 single nucleotide variant NM_000465.3(BARD1):c.277C>T (p.Gln93Ter) 876658571 MedGen:C0027672,SNOMED CT:C0027672 2 215657108 215657108 G A 232436 single nucleotide variant NM_000465.3(BARD1):c.277C>T (p.Gln93Ter) 876658571 MedGen:C0027672,SNOMED CT:C0027672 2 214792384 214792384 G A 232437 single nucleotide variant NM_000465.3(BARD1):c.263C>T (p.Thr88Ile) 876659356 MedGen:C0027672,SNOMED CT:C0027672 2 215657122 215657122 G A 232437 single nucleotide variant NM_000465.3(BARD1):c.263C>T (p.Thr88Ile) 876659356 MedGen:C0027672,SNOMED CT:C0027672 2 214792398 214792398 G A 232438 single nucleotide variant NM_000465.3(BARD1):c.221G>T (p.Cys74Phe) 876658459 MedGen:C0027672,SNOMED CT:C0027672 2 215657164 215657164 C A 232438 single nucleotide variant NM_000465.3(BARD1):c.221G>T (p.Cys74Phe) 876658459 MedGen:C0027672,SNOMED CT:C0027672 2 214792440 214792440 C A 232439 single nucleotide variant NM_000465.3(BARD1):c.221G>C (p.Cys74Ser) 876658459 MedGen:C0027672,SNOMED CT:C0027672 2 215657164 215657164 C G 232439 single nucleotide variant NM_000465.3(BARD1):c.221G>C (p.Cys74Ser) 876658459 MedGen:C0027672,SNOMED CT:C0027672 2 214792440 214792440 C G 232440 single nucleotide variant NM_000465.3(BARD1):c.216-1G>A 876658905 MedGen:C0027672,SNOMED CT:C0027672 2 215657170 215657170 C T 232440 single nucleotide variant NM_000465.3(BARD1):c.216-1G>A 876658905 MedGen:C0027672,SNOMED CT:C0027672 2 214792446 214792446 C T 232441 deletion NM_000465.3(BARD1):c.215+5_215+8delGTAA 876658777 MedGen:C0027672,SNOMED CT:C0027672 2 215661777 215661780 TTAC - 232441 deletion NM_000465.3(BARD1):c.215+5_215+8delGTAA 876658777 MedGen:C0027672,SNOMED CT:C0027672 2 214797053 214797056 TTAC - 232442 single nucleotide variant NM_000465.3(BARD1):c.171G>A (p.Leu57=) 876659045 MedGen:C0027672,SNOMED CT:C0027672 2 215661829 215661829 C T 232442 single nucleotide variant NM_000465.3(BARD1):c.171G>A (p.Leu57=) 876659045 MedGen:C0027672,SNOMED CT:C0027672 2 214797105 214797105 C T 232443 single nucleotide variant NM_000465.3(BARD1):c.159-5A>G 876658380 MedGen:C0027672,SNOMED CT:C0027672 2 215661846 215661846 T C 232443 single nucleotide variant NM_000465.3(BARD1):c.159-5A>G 876658380 MedGen:C0027672,SNOMED CT:C0027672 2 214797122 214797122 T C 232444 single nucleotide variant NM_000465.3(BARD1):c.130C>G (p.Leu44Val) 876658807 MedGen:C0027672,SNOMED CT:C0027672 2 215674164 215674164 G C 232444 single nucleotide variant NM_000465.3(BARD1):c.130C>G (p.Leu44Val) 876658807 MedGen:C0027672,SNOMED CT:C0027672 2 214809440 214809440 G C 232445 single nucleotide variant NM_000465.3(BARD1):c.121C>G (p.Leu41Val) 751665426 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 215674173 215674173 G C 232445 single nucleotide variant NM_000465.3(BARD1):c.121C>G (p.Leu41Val) 751665426 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:C0027672,SNOMED CT:C0027672 2 214809449 214809449 G C 232446 single nucleotide variant NM_000465.3(BARD1):c.107A>C (p.His36Pro) 864622635 MedGen:C0027672,SNOMED CT:C0027672 2 215674187 215674187 T G 232446 single nucleotide variant NM_000465.3(BARD1):c.107A>C (p.His36Pro) 864622635 MedGen:C0027672,SNOMED CT:C0027672 2 214809463 214809463 T G 232447 single nucleotide variant NM_000465.3(BARD1):c.101G>C (p.Trp34Ser) 876659387 MedGen:C0027672,SNOMED CT:C0027672 2 215674193 215674193 C G 232447 single nucleotide variant NM_000465.3(BARD1):c.101G>C (p.Trp34Ser) 876659387 MedGen:C0027672,SNOMED CT:C0027672 2 214809469 214809469 C G 232448 single nucleotide variant NM_000465.3(BARD1):c.93C>T (p.Arg31=) 778803692 MedGen:C0027672,SNOMED CT:C0027672 2 215674201 215674201 G A 232448 single nucleotide variant NM_000465.3(BARD1):c.93C>T (p.Arg31=) 778803692 MedGen:C0027672,SNOMED CT:C0027672 2 214809477 214809477 G A 232449 single nucleotide variant NM_000465.3(BARD1):c.86A>T (p.Asp29Val) 777491507 MedGen:C0027672,SNOMED CT:C0027672 2 215674208 215674208 T A 232449 single nucleotide variant NM_000465.3(BARD1):c.86A>T (p.Asp29Val) 777491507 MedGen:C0027672,SNOMED CT:C0027672 2 214809484 214809484 T A 232450 single nucleotide variant NM_000465.3(BARD1):c.82C>T (p.Pro28Ser) 770702450 MedGen:C0027672,SNOMED CT:C0027672 2 215674212 215674212 G A 232450 single nucleotide variant NM_000465.3(BARD1):c.82C>T (p.Pro28Ser) 770702450 MedGen:C0027672,SNOMED CT:C0027672 2 214809488 214809488 G A 232451 single nucleotide variant NM_000465.3(BARD1):c.82C>A (p.Pro28Thr) 770702450 MedGen:C0027672,SNOMED CT:C0027672 2 215674212 215674212 G T 232451 single nucleotide variant NM_000465.3(BARD1):c.82C>A (p.Pro28Thr) 770702450 MedGen:C0027672,SNOMED CT:C0027672 2 214809488 214809488 G T 232452 single nucleotide variant NM_000465.3(BARD1):c.75C>T (p.Ala25=) 763098407 MedGen:C0027672,SNOMED CT:C0027672 2 215674219 215674219 G A 232452 single nucleotide variant NM_000465.3(BARD1):c.75C>T (p.Ala25=) 763098407 MedGen:C0027672,SNOMED CT:C0027672 2 214809495 214809495 G A 232453 indel NM_000465.3(BARD1):c.69_70delGCinsTCCGGGAACGAGCCTCGTTCCGCGT (p.Ala25Glyfs) 876659040 MedGen:C0027672,SNOMED CT:C0027672 2 215674224 215674225 GC ACGCGGAACGAGGCTCGTTCCCGGA 232453 indel NM_000465.3(BARD1):c.69_70delGCinsTCCGGGAACGAGCCTCGTTCCGCGT (p.Ala25Glyfs) 876659040 MedGen:C0027672,SNOMED CT:C0027672 2 214809500 214809501 GC ACGCGGAACGAGGCTCGTTCCCGGA 232454 single nucleotide variant NM_000465.3(BARD1):c.65C>T (p.Ser22Phe) 876659724 MedGen:C0027672,SNOMED CT:C0027672 2 215674229 215674229 G A 232454 single nucleotide variant NM_000465.3(BARD1):c.65C>T (p.Ser22Phe) 876659724 MedGen:C0027672,SNOMED CT:C0027672 2 214809505 214809505 G A 232455 single nucleotide variant NM_000465.3(BARD1):c.61C>T (p.Arg21Cys) 864622206 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 215674233 215674233 G A 232455 single nucleotide variant NM_000465.3(BARD1):c.61C>T (p.Arg21Cys) 864622206 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 2 214809509 214809509 G A 232456 single nucleotide variant NM_000465.3(BARD1):c.57G>C (p.Glu19Asp) 730881406 MedGen:C0027672,SNOMED CT:C0027672 2 215674237 215674237 C G 232456 single nucleotide variant NM_000465.3(BARD1):c.57G>C (p.Glu19Asp) 730881406 MedGen:C0027672,SNOMED CT:C0027672 2 214809513 214809513 C G 232457 single nucleotide variant NM_000465.3(BARD1):c.55G>T (p.Glu19Ter) 752514155 MedGen:C0027672,SNOMED CT:C0027672 2 215674239 215674239 C A 232457 single nucleotide variant NM_000465.3(BARD1):c.55G>T (p.Glu19Ter) 752514155 MedGen:C0027672,SNOMED CT:C0027672 2 214809515 214809515 C A 232458 single nucleotide variant NM_000465.3(BARD1):c.48C>T (p.Ser16=) 770753803 MedGen:C0027672,SNOMED CT:C0027672 2 215674246 215674246 G A 232458 single nucleotide variant NM_000465.3(BARD1):c.48C>T (p.Ser16=) 770753803 MedGen:C0027672,SNOMED CT:C0027672 2 214809522 214809522 G A 232459 duplication NM_000465.3(BARD1):c.31_45dupCAGCCGAGGATCCGC (p.Arg15_Ser16insGlnProArgIleArg) 876659262 MedGen:C0027672,SNOMED CT:C0027672 2 215674249 215674263 GCGGATCCTCGGCTG GCGGATCCTCGGCTGGCGGATCCTCGGCTG 232459 duplication NM_000465.3(BARD1):c.31_45dupCAGCCGAGGATCCGC (p.Arg15_Ser16insGlnProArgIleArg) 876659262 MedGen:C0027672,SNOMED CT:C0027672 2 214809525 214809539 GCGGATCCTCGGCTG GCGGATCCTCGGCTGGCGGATCCTCGGCTG 232460 duplication NM_000465.3(BARD1):c.26_40dupACCGGCAGCCGAGGA (p.Arg13_Ile14insAsnArgGlnProArg) 876658281 MedGen:C0027672,SNOMED CT:C0027672 2 215674254 215674268 TCCTCGGCTGCCGGT TCCTCGGCTGCCGGTTCCTCGGCTGCCGGT 232460 duplication NM_000465.3(BARD1):c.26_40dupACCGGCAGCCGAGGA (p.Arg13_Ile14insAsnArgGlnProArg) 876658281 MedGen:C0027672,SNOMED CT:C0027672 2 214809530 214809544 TCCTCGGCTGCCGGT TCCTCGGCTGCCGGTTCCTCGGCTGCCGGT 232461 single nucleotide variant NM_000465.3(BARD1):c.36G>A (p.Pro12=) 876659948 MedGen:C0027672,SNOMED CT:C0027672 2 215674258 215674258 C T 232461 single nucleotide variant NM_000465.3(BARD1):c.36G>A (p.Pro12=) 876659948 MedGen:C0027672,SNOMED CT:C0027672 2 214809534 214809534 C T 232462 deletion NM_000465.3(BARD1):c.4_23del20 (p.Pro2Glufs) 876660077 MedGen:C0027672,SNOMED CT:C0027672 2 215674271 215674290 na na 232462 deletion NM_000465.3(BARD1):c.4_23del20 (p.Pro2Glufs) 876660077 MedGen:C0027672,SNOMED CT:C0027672 2 214809547 214809566 na na 232463 single nucleotide variant NM_000465.3(BARD1):c.16C>A (p.Gln6Lys) 876658234 MedGen:C0027672,SNOMED CT:C0027672 2 215674278 215674278 G T 232463 single nucleotide variant NM_000465.3(BARD1):c.16C>A (p.Gln6Lys) 876658234 MedGen:C0027672,SNOMED CT:C0027672 2 214809554 214809554 G T 232464 single nucleotide variant NM_000465.3(BARD1):c.6G>T (p.Pro2=) 876660278 MedGen:C0027672,SNOMED CT:C0027672 2 215674288 215674288 C A 232464 single nucleotide variant NM_000465.3(BARD1):c.6G>T (p.Pro2=) 876660278 MedGen:C0027672,SNOMED CT:C0027672 2 214809564 214809564 C A 232465 single nucleotide variant NM_000465.3(BARD1):c.-2C>G 876659743 MedGen:C0027672,SNOMED CT:C0027672 2 215674295 215674295 G C 232465 single nucleotide variant NM_000465.3(BARD1):c.-2C>G 876659743 MedGen:C0027672,SNOMED CT:C0027672 2 214809571 214809571 G C 238355 deletion NM_000465.3(BARD1):c.1569-?_*3030+?del -1 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 na -1 -1 na na 238629 single nucleotide variant NM_000465.3(BARD1):c.1545C>T (p.Ser515=) 777715537 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215632229 215632229 G A 238629 single nucleotide variant NM_000465.3(BARD1):c.1545C>T (p.Ser515=) 777715537 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214767505 214767505 G A 238640 single nucleotide variant NM_000465.3(BARD1):c.1006T>C (p.Cys336Arg) 752869298 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215645592 215645592 A G 238650 single nucleotide variant NM_000465.3(BARD1):c.345A>G (p.Leu115=) 771012953 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215657040 215657040 T C 238650 single nucleotide variant NM_000465.3(BARD1):c.345A>G (p.Leu115=) 771012953 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214792316 214792316 T C 238651 single nucleotide variant NM_000465.3(BARD1):c.297A>G (p.Arg99=) 878854010 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214792364 214792364 T C 238651 single nucleotide variant NM_000465.3(BARD1):c.297A>G (p.Arg99=) 878854010 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215657088 215657088 T C 238652 single nucleotide variant NM_000465.3(BARD1):c.290T>G (p.Ile97Arg) 878854009 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214792371 214792371 A C 238620 single nucleotide variant NM_000465.3(BARD1):c.2284T>C (p.Trp762Arg) 878854008 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214728726 214728726 A G 238620 single nucleotide variant NM_000465.3(BARD1):c.2284T>C (p.Trp762Arg) 878854008 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215593450 215593450 A G 238621 single nucleotide variant NM_000465.3(BARD1):c.2237A>G (p.His746Arg) 878854007 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215593497 215593497 T C 238621 single nucleotide variant NM_000465.3(BARD1):c.2237A>G (p.His746Arg) 878854007 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214728773 214728773 T C 238622 single nucleotide variant NM_000465.3(BARD1):c.2146A>G (p.Thr716Ala) 878854006 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214728864 214728864 T C 238622 single nucleotide variant NM_000465.3(BARD1):c.2146A>G (p.Thr716Ala) 878854006 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215593588 215593588 T C 238623 duplication NM_000465.3(BARD1):c.2138_2140dupTGA (p.Val713_Thr714insMet) 878854005 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215593594 215593596 TCA TCATCA 238623 duplication NM_000465.3(BARD1):c.2138_2140dupTGA (p.Val713_Thr714insMet) 878854005 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214728870 214728872 TCA TCATCA 238624 single nucleotide variant NM_000465.3(BARD1):c.1985T>G (p.Leu662Arg) 556775078 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 2 214730427 214730427 A C 238624 single nucleotide variant NM_000465.3(BARD1):c.1985T>G (p.Leu662Arg) 556775078 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 2 215595151 215595151 A C 238625 single nucleotide variant NM_000465.3(BARD1):c.1890T>A (p.Ile630=) 878854004 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214745080 214745080 A T 238625 single nucleotide variant NM_000465.3(BARD1):c.1890T>A (p.Ile630=) 878854004 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215609804 215609804 A T 238626 single nucleotide variant NM_000465.3(BARD1):c.1887G>T (p.Trp629Cys) 878854003 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214745083 214745083 C A 238626 single nucleotide variant NM_000465.3(BARD1):c.1887G>T (p.Trp629Cys) 878854003 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215609807 215609807 C A 238627 single nucleotide variant NM_000465.3(BARD1):c.1702G>C (p.Gly568Arg) 878854002 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214745830 214745830 C G 238627 single nucleotide variant NM_000465.3(BARD1):c.1702G>C (p.Gly568Arg) 878854002 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215610554 215610554 C G 238628 single nucleotide variant NM_000465.3(BARD1):c.1593C>G (p.Val531=) 564894014 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215617255 215617255 G C 238628 single nucleotide variant NM_000465.3(BARD1):c.1593C>G (p.Val531=) 564894014 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214752531 214752531 G C 238630 single nucleotide variant NM_000465.3(BARD1):c.1499A>T (p.Asp500Val) 878854001 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214767551 214767551 T A 238630 single nucleotide variant NM_000465.3(BARD1):c.1499A>T (p.Asp500Val) 878854001 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215632275 215632275 T A 238631 single nucleotide variant NM_000465.3(BARD1):c.1378G>A (p.Ala460Thr) 878854000 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214769249 214769249 C T 238631 single nucleotide variant NM_000465.3(BARD1):c.1378G>A (p.Ala460Thr) 878854000 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215633973 215633973 C T 238632 single nucleotide variant NM_000465.3(BARD1):c.1315-4C>G 878853999 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214769316 214769316 G C 238632 single nucleotide variant NM_000465.3(BARD1):c.1315-4C>G 878853999 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215634040 215634040 G C 238633 single nucleotide variant NM_000465.3(BARD1):c.1285G>A (p.Glu429Lys) 878853998 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214780589 214780589 C T 238633 single nucleotide variant NM_000465.3(BARD1):c.1285G>A (p.Glu429Lys) 878853998 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215645313 215645313 C T 238634 deletion NM_000465.3(BARD1):c.1283_1285delGAG (p.Gly428del) 878853997 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214780589 214780591 CTC - 238634 deletion NM_000465.3(BARD1):c.1283_1285delGAG (p.Gly428del) 878853997 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215645313 215645315 CTC - 238635 single nucleotide variant NM_000465.3(BARD1):c.1247T>G (p.Leu416Arg) 878853996 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214780627 214780627 A C 238635 single nucleotide variant NM_000465.3(BARD1):c.1247T>G (p.Leu416Arg) 878853996 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215645351 215645351 A C 238636 single nucleotide variant NM_000465.3(BARD1):c.1172C>G (p.Ser391Ter) 878853995 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215645426 215645426 G C 238636 single nucleotide variant NM_000465.3(BARD1):c.1172C>G (p.Ser391Ter) 878853995 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214780702 214780702 G C 238637 single nucleotide variant NM_000465.3(BARD1):c.1018A>T (p.Ile340Phe) 878853994 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214780856 214780856 T A 238637 single nucleotide variant NM_000465.3(BARD1):c.1018A>T (p.Ile340Phe) 878853994 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215645580 215645580 T A 238638 single nucleotide variant NM_000465.3(BARD1):c.1007G>A (p.Cys336Tyr) 779527817 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215645591 215645591 C T 238638 single nucleotide variant NM_000465.3(BARD1):c.1007G>A (p.Cys336Tyr) 779527817 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214780867 214780867 C T 238639 single nucleotide variant NM_000465.3(BARD1):c.1006T>G (p.Cys336Gly) 752869298 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215645592 215645592 A C 238639 single nucleotide variant NM_000465.3(BARD1):c.1006T>G (p.Cys336Gly) 752869298 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214780868 214780868 A C 238640 single nucleotide variant NM_000465.3(BARD1):c.1006T>C (p.Cys336Arg) 752869298 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214780868 214780868 A G 238641 single nucleotide variant NM_000465.3(BARD1):c.958G>A (p.Gly320Arg) 878854017 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215645640 215645640 C T 238641 single nucleotide variant NM_000465.3(BARD1):c.958G>A (p.Gly320Arg) 878854017 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214780916 214780916 C T 238642 single nucleotide variant NM_000465.3(BARD1):c.863C>T (p.Ser288Phe) 878854016 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214781011 214781011 G A 238642 single nucleotide variant NM_000465.3(BARD1):c.863C>T (p.Ser288Phe) 878854016 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215645735 215645735 G A 238643 single nucleotide variant NM_000465.3(BARD1):c.737C>A (p.Pro246Gln) 151325889 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214781137 214781137 G T 238643 single nucleotide variant NM_000465.3(BARD1):c.737C>A (p.Pro246Gln) 151325889 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215645861 215645861 G T 238644 single nucleotide variant NM_000465.3(BARD1):c.692C>T (p.Ser231Phe) 758140052 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 2 214781182 214781182 G A 238644 single nucleotide variant NM_000465.3(BARD1):c.692C>T (p.Ser231Phe) 758140052 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153;MedGen:CN169374 2 215645906 215645906 G A 238645 single nucleotide variant NM_000465.3(BARD1):c.567A>C (p.Ala189=) 878854015 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215646031 215646031 T G 238645 single nucleotide variant NM_000465.3(BARD1):c.567A>C (p.Ala189=) 878854015 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214781307 214781307 T G 238646 single nucleotide variant NM_000465.3(BARD1):c.545T>G (p.Phe182Cys) 878854014 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214781329 214781329 A C 238646 single nucleotide variant NM_000465.3(BARD1):c.545T>G (p.Phe182Cys) 878854014 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215646053 215646053 A C 238647 single nucleotide variant NM_000465.3(BARD1):c.542A>G (p.Glu181Gly) 878854013 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214781332 214781332 T C 238647 single nucleotide variant NM_000465.3(BARD1):c.542A>G (p.Glu181Gly) 878854013 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215646056 215646056 T C 238648 single nucleotide variant NM_000465.3(BARD1):c.408A>G (p.Ala136=) 878854012 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214781466 214781466 T C 238648 single nucleotide variant NM_000465.3(BARD1):c.408A>G (p.Ala136=) 878854012 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215646190 215646190 T C 238649 single nucleotide variant NM_000465.3(BARD1):c.382C>T (p.Pro128Ser) 878854011 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215646216 215646216 G A 238649 single nucleotide variant NM_000465.3(BARD1):c.382C>T (p.Pro128Ser) 878854011 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214781492 214781492 G A 238652 single nucleotide variant NM_000465.3(BARD1):c.290T>G (p.Ile97Arg) 878854009 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215657095 215657095 A C 238653 single nucleotide variant NM_000465.3(BARD1):c.171G>C (p.Leu57=) 876659045 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214797105 214797105 C G 238653 single nucleotide variant NM_000465.3(BARD1):c.171G>C (p.Leu57=) 876659045 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215661829 215661829 C G 238654 single nucleotide variant NM_000465.3(BARD1):c.93C>G (p.Arg31=) 778803692 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214809477 214809477 G C 238654 single nucleotide variant NM_000465.3(BARD1):c.93C>G (p.Arg31=) 778803692 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215674201 215674201 G C 238655 single nucleotide variant NM_000465.3(BARD1):c.82C>G (p.Pro28Ala) 770702450 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215674212 215674212 G C 238655 single nucleotide variant NM_000465.3(BARD1):c.82C>G (p.Pro28Ala) 770702450 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214809488 214809488 G C 238656 single nucleotide variant NM_000465.3(BARD1):c.59C>T (p.Pro20Leu) 753686197 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214809511 214809511 G A 238656 single nucleotide variant NM_000465.3(BARD1):c.59C>T (p.Pro20Leu) 753686197 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215674235 215674235 G A 244330 single nucleotide variant NM_000465.3(BARD1):c.1314+14T>C 879254117 MedGen:CN169374 2 214780546 214780546 A G 244331 deletion NM_000465.3(BARD1):c.1284delA (p.Glu429Argfs) 879253879 MedGen:CN221809 2 214780590 214780590 T - 244322 single nucleotide variant NM_000465.3(BARD1):c.2242G>A (p.Glu748Lys) 879253880 MedGen:CN169374 2 214728768 214728768 C T 244322 single nucleotide variant NM_000465.3(BARD1):c.2242G>A (p.Glu748Lys) 879253880 MedGen:CN169374 2 215593492 215593492 C T 244323 single nucleotide variant NM_000465.3(BARD1):c.1969C>A (p.Pro657Thr) 879254244 MedGen:CN169374 2 214730443 214730443 G T 244323 single nucleotide variant NM_000465.3(BARD1):c.1969C>A (p.Pro657Thr) 879254244 MedGen:CN169374 2 215595167 215595167 G T 244324 single nucleotide variant NM_000465.3(BARD1):c.1966G>C (p.Gly656Arg) 766781362 MedGen:CN169374 2 215595170 215595170 C G 244324 single nucleotide variant NM_000465.3(BARD1):c.1966G>C (p.Gly656Arg) 766781362 MedGen:CN169374 2 214730446 214730446 C G 244325 single nucleotide variant NM_000465.3(BARD1):c.1960C>T (p.Pro654Ser) 876658741 MedGen:CN169374 2 214730452 214730452 G A 244325 single nucleotide variant NM_000465.3(BARD1):c.1960C>T (p.Pro654Ser) 876658741 MedGen:CN169374 2 215595176 215595176 G A 244326 single nucleotide variant NM_000465.3(BARD1):c.1811-1G>A 879253952 MedGen:CN221809 2 214745160 214745160 C T 244326 single nucleotide variant NM_000465.3(BARD1):c.1811-1G>A 879253952 MedGen:CN221809 2 215609884 215609884 C T 244327 deletion NM_000465.3(BARD1):c.1811-10_1811-2delTGTATTTTA 879254264 MedGen:CN221809 2 215609885 215609893 TAAAATACA - 244327 deletion NM_000465.3(BARD1):c.1811-10_1811-2delTGTATTTTA 879254264 MedGen:CN221809 2 214745161 214745169 TAAAATACA - 244328 single nucleotide variant NM_000465.3(BARD1):c.1772T>A (p.Ile591Asn) 879254291 MedGen:CN169374 2 214745760 214745760 A T 244328 single nucleotide variant NM_000465.3(BARD1):c.1772T>A (p.Ile591Asn) 879254291 MedGen:CN169374 2 215610484 215610484 A T 244329 single nucleotide variant NM_000465.3(BARD1):c.1569-12T>G 879254246 MedGen:CN169374 2 214752567 214752567 A C 244329 single nucleotide variant NM_000465.3(BARD1):c.1569-12T>G 879254246 MedGen:CN169374 2 215617291 215617291 A C 244330 single nucleotide variant NM_000465.3(BARD1):c.1314+14T>C 879254117 MedGen:CN169374 2 215645270 215645270 A G 244331 deletion NM_000465.3(BARD1):c.1284delA (p.Glu429Argfs) 879253879 MedGen:CN221809 2 215645314 215645314 T - 244332 single nucleotide variant NM_000465.3(BARD1):c.1244A>C (p.Lys415Thr) 879254118 MedGen:CN169374 2 215645354 215645354 T G 244332 single nucleotide variant NM_000465.3(BARD1):c.1244A>C (p.Lys415Thr) 879254118 MedGen:CN169374 2 214780630 214780630 T G 244333 single nucleotide variant NM_000465.3(BARD1):c.764A>G (p.Asn255Ser) 138904906 MedGen:CN169374 2 214781110 214781110 T C 244333 single nucleotide variant NM_000465.3(BARD1):c.764A>G (p.Asn255Ser) 138904906 MedGen:CN169374 2 215645834 215645834 T C 244334 single nucleotide variant NM_000465.3(BARD1):c.760A>C (p.Ile254Leu) 879253984 MedGen:CN169374 2 214781114 214781114 T G 244334 single nucleotide variant NM_000465.3(BARD1):c.760A>C (p.Ile254Leu) 879253984 MedGen:CN169374 2 215645838 215645838 T G 244335 single nucleotide variant NM_000465.3(BARD1):c.368T>G (p.Leu123Trp) 879253930 MedGen:CN169374 2 215646230 215646230 A C 244335 single nucleotide variant NM_000465.3(BARD1):c.368T>G (p.Leu123Trp) 879253930 MedGen:CN169374 2 214781506 214781506 A C 244336 single nucleotide variant NM_000465.3(BARD1):c.304G>A (p.Asp102Asn) 140254589 MedGen:CN169374 2 214792357 214792357 C T 244336 single nucleotide variant NM_000465.3(BARD1):c.304G>A (p.Asp102Asn) 140254589 MedGen:CN169374 2 215657081 215657081 C T 244337 single nucleotide variant NM_000465.3(BARD1):c.161C>G (p.Thr54Ser) 879253878 MedGen:CN169374 2 214797115 214797115 G C 244337 single nucleotide variant NM_000465.3(BARD1):c.161C>G (p.Thr54Ser) 879253878 MedGen:CN169374 2 215661839 215661839 G C 244338 single nucleotide variant NM_000465.3(BARD1):c.159-1G>T 879254139 MedGen:CN221809 2 214797118 214797118 C A 244338 single nucleotide variant NM_000465.3(BARD1):c.159-1G>T 879254139 MedGen:CN221809 2 215661842 215661842 C A 244339 single nucleotide variant NM_000465.3(BARD1):c.102G>A (p.Trp34Ter) 879254280 MedGen:CN221809 2 214809468 214809468 C T 244339 single nucleotide variant NM_000465.3(BARD1):c.102G>A (p.Trp34Ter) 879254280 MedGen:CN221809 2 215674192 215674192 C T 250542 single nucleotide variant NM_000465.3(BARD1):c.1568+14C>T 5031011 MedGen:CN221572;MedGen:CN169374 2 215632192 215632192 G A 250542 single nucleotide variant NM_000465.3(BARD1):c.1568+14C>T 5031011 MedGen:CN221572;MedGen:CN169374 2 214767468 214767468 G A 250543 single nucleotide variant NM_000465.3(BARD1):c.1315-19G>A 6704780 MedGen:CN169374 2 214769331 214769331 C T 250543 single nucleotide variant NM_000465.3(BARD1):c.1315-19G>A 6704780 MedGen:CN169374 2 215634055 215634055 C T 259718 single nucleotide variant NM_000465.3(BARD1):c.2002-2A>C 876658260 MedGen:CN221809 2 215593734 215593734 T G 259718 single nucleotide variant NM_000465.3(BARD1):c.2002-2A>C 876658260 MedGen:CN221809 2 214729010 214729010 T G 259719 deletion NM_000465.3(BARD1):c.1935_1954del20 (p.Cys645Terfs) 886039589 MedGen:CN221809 2 215595182 215595201 CATACTTTTCTTCCTGTTCA - 259719 deletion NM_000465.3(BARD1):c.1935_1954del20 (p.Cys645Terfs) 886039589 MedGen:CN221809 2 214730458 214730477 na na 264074 single nucleotide variant NM_000465.3(BARD1):c.928T>G (p.Ser310Ala) 886041139 MedGen:CN169374 2 215645670 215645670 A C 264074 single nucleotide variant NM_000465.3(BARD1):c.928T>G (p.Ser310Ala) 886041139 MedGen:CN169374 2 214780946 214780946 A C 284585 single nucleotide variant NM_000465.3(BARD1):c.-48T>C 17489363 MedGen:CN221572 2 214809617 214809617 A G 284585 single nucleotide variant NM_000465.3(BARD1):c.-48T>C 17489363 MedGen:CN221572 2 215674341 215674341 A G 285273 deletion NM_000465.3(BARD1):c.216-15_216-14delTT 747897450 MedGen:CN221572 2 214792459 214792460 AA - 285273 deletion NM_000465.3(BARD1):c.216-15_216-14delTT 747897450 MedGen:CN221572 2 215657183 215657184 AA - 285282 single nucleotide variant NM_000465.3(BARD1):c.-78G>A 34732883 MedGen:CN221572 2 214809647 214809647 C T 285282 single nucleotide variant NM_000465.3(BARD1):c.-78G>A 34732883 MedGen:CN221572 2 215674371 215674371 C T 287450 single nucleotide variant NM_000465.3(BARD1):c.-83C>T 71579840 MedGen:CN221572 2 214809652 214809652 G A 287450 single nucleotide variant NM_000465.3(BARD1):c.-83C>T 71579840 MedGen:CN221572 2 215674376 215674376 G A 287453 single nucleotide variant NM_000465.3(BARD1):c.-114A>G 778519204 MedGen:CN221572 2 214809683 214809683 T C 287453 single nucleotide variant NM_000465.3(BARD1):c.-114A>G 778519204 MedGen:CN221572 2 215674407 215674407 T C 287660 single nucleotide variant NM_000465.3(BARD1):c.1403C>G (p.Ala468Gly) 886055599 MedGen:CN221572 2 214767647 214767647 G C 287660 single nucleotide variant NM_000465.3(BARD1):c.1403C>G (p.Ala468Gly) 886055599 MedGen:CN221572 2 215632371 215632371 G C 287661 single nucleotide variant NM_000465.3(BARD1):c.245G>T (p.Gly82Val) 886055600 MedGen:CN221572 2 214792416 214792416 C A 287661 single nucleotide variant NM_000465.3(BARD1):c.245G>T (p.Gly82Val) 886055600 MedGen:CN221572 2 215657140 215657140 C A 287665 single nucleotide variant NM_000465.3(BARD1):c.216-14T>C 775103922 MedGen:CN221572 2 214792459 214792459 A G 287665 single nucleotide variant NM_000465.3(BARD1):c.216-14T>C 775103922 MedGen:CN221572 2 215657183 215657183 A G 287667 single nucleotide variant NM_000465.3(BARD1):c.215+13G>A 886055601 MedGen:CN221572 2 214797048 214797048 C T 287667 single nucleotide variant NM_000465.3(BARD1):c.215+13G>A 886055601 MedGen:CN221572 2 215661772 215661772 C T 287668 single nucleotide variant NM_000465.3(BARD1):c.-30G>C 1129804 MedGen:CN221572 2 214809599 214809599 C G 287668 single nucleotide variant NM_000465.3(BARD1):c.-30G>C 1129804 MedGen:CN221572 2 215674323 215674323 C G 353557 duplication NM_000465.3(BARD1):c.*138dupA 33960630 MedGen:CN221572 2 215593262 215593262 T TT 353557 duplication NM_000465.3(BARD1):c.*138dupA 33960630 MedGen:CN221572 2 214728538 214728538 T TT 358702 single nucleotide variant NM_000465.3(BARD1):c.1315-21C>A 747393586 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214769333 214769333 G T 358702 single nucleotide variant NM_000465.3(BARD1):c.1315-21C>A 747393586 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215634057 215634057 G T 358703 single nucleotide variant NM_000465.3(BARD1):c.364+16A>G 201219625 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214792281 214792281 T C 358703 single nucleotide variant NM_000465.3(BARD1):c.364+16A>G 201219625 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215657005 215657005 T C 358704 single nucleotide variant NM_000465.3(BARD1):c.233G>A (p.Cys78Tyr) 199780731 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214792428 214792428 C T 358704 single nucleotide variant NM_000465.3(BARD1):c.233G>A (p.Cys78Tyr) 199780731 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215657152 215657152 C T 358705 single nucleotide variant NM_000465.3(BARD1):c.215+20T>C 200715720 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214797041 214797041 A G 358705 single nucleotide variant NM_000465.3(BARD1):c.215+20T>C 200715720 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215661765 215661765 A G 358706 deletion NM_000465.3(BARD1):c.176_177delAG (p.Glu59Alafs) 1057517589 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 215661823 215661824 CT - 358706 deletion NM_000465.3(BARD1):c.176_177delAG (p.Glu59Alafs) 1057517589 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 2 214797099 214797100 CT - 360833 single nucleotide variant NM_000465.3(BARD1):c.1463A>G (p.Asn488Ser) 1057518894 MedGen:C1333600 2 214767587 214767587 T C 360833 single nucleotide variant NM_000465.3(BARD1):c.1463A>G (p.Asn488Ser) 1057518894 MedGen:C1333600 2 215632311 215632311 T C

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 2 215592906 rs1979028 T A rs1979028 1.16E-04 Multiple complex diseases HPOID:0000118 NA T nearGene-3 GWASdb_trait 2 215595512 rs12614960 C T rs12614960 1.07E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 2 215595645 rs16852600 C T rs16852600 1.92E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 2 215595645 rs16852600 C T rs16852600 1.40E-07 Neuroblastoma (high-risk) HPOID:0003006 DOID:769 C intron GWASdb_trait 2 215595645 rs16852600 C T rs16852600 6.83E-05 Neuroblastoma HPOID:0003006 DOID:769 C intron GWASdb_trait 2 215595645 rs16852600 C T rs16852600 3.64E-05 Coronary heart disease HPOID:0001677 DOID:3393 C intron GWASdb_trait 2 215595645 rs16852600 C T rs16852600 5.87E-05 Coronary heart disease HPOID:0001677 DOID:3393 C intron GWASdb_trait 2 215600257 rs895459 G A rs895459 7.82E-07 Neuroblastoma (high-risk) HPOID:0003006 DOID:769 C intron GWASdb_trait 2 215600257 rs895459 G A rs895459 1.11E-05 Neuroblastoma HPOID:0003006 DOID:769 C intron GWASdb_trait 2 215602074 rs10183009 G T rs10183009 3.57E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 2 215616708 rs2053710 C T rs2053710 5.77E-04 Amyotrophic Lateral Sclerosis HPOID:0007354 DOID:332 A intron GWASdb_trait 2 215616708 rs2053710 C T rs2053710 2.56E-07 Neuroblastoma (high-risk) HPOID:0003006 DOID:769 A intron GWASdb_trait 2 215616708 rs2053710 C T rs2053710 1.62E-06 Neuroblastoma HPOID:0003006 DOID:769 A intron GWASdb_trait 2 215618779 rs1374230 A G rs1374230 1.34E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 2 215618779 rs1374230 A G rs1374230 1.10E-07 Neuroblastoma (high-risk) HPOID:0003006 DOID:769 T intron GWASdb_trait 2 215618779 rs1374230 A G rs1374230 1.62E-05 Neuroblastoma HPOID:0003006 DOID:769 T intron GWASdb_trait 2 215623390 rs10221582 C T rs10221582 2.36E-05 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 2 215627397 rs10932572 A G rs10932572 1.20E-04 Amyotrophic Lateral Sclerosis HPOID:0007354 DOID:332 G intron GWASdb_trait 2 215627397 rs10932572 A G rs10932572 2.80E-09 Neuroblastoma (high-risk) HPOID:0003006 DOID:769 G intron GWASdb_trait 2 215627397 rs10932572 A G rs10932572 2.84E-05 Neuroblastoma HPOID:0003006 DOID:769 G intron GWASdb_trait 2 215629322 rs7584646 A G rs7584646 2.50E-10 Neuroblastoma (high-risk) HPOID:0003006 DOID:769 A intron GWASdb_trait 2 215629322 rs7584646 A G rs7584646 3.73E-05 Neuroblastoma HPOID:0003006 DOID:769 A intron GWASdb_trait 2 215629543 rs6706777 G C rs6706777 1.48E-05 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 2 215631302 rs7599060 G A rs7599060 3.79E-05 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 2 215633624 rs11685215 C T rs11685215 4.63E-04 Amyotrophic lateral sclerosis (sporadic) HPOID:0007354 DOID:332 C intron GWASdb_trait 2 215634627 rs7557557 C T rs7557557 2.79E-08 Neuroblastoma (high-risk) HPOID:0003006 DOID:769 T intron GWASdb_trait 2 215634627 rs7557557 C T rs7557557 1.42E-06 Neuroblastoma HPOID:0003006 DOID:769 T intron GWASdb_trait 2 215635794 rs3768716 T C rs3768716 1.62E-14 Neuroblastoma (high-risk) HPOID:0003006 DOID:769 A intron GWASdb_trait 2 215635794 rs3768716 T C rs3768716 5.00E-13 Neuroblastoma HPOID:0003006 DOID:769 A intron GWASdb_trait 2 215635794 rs3768716 T C rs3768716 7.25E-13 Neuroblastoma HPOID:0003006 DOID:769 A intron GWASdb_trait 2 215643500 rs17487792 C T rs17487792 1.82E-14 Neuroblastoma (high-risk) HPOID:0003006 DOID:769 C intron GWASdb_trait 2 215643500 rs17487792 C T rs17487792 1.35E-12 Neuroblastoma HPOID:0003006 DOID:769 C intron GWASdb_trait 2 215653887 rs7587476 T C rs7587476 8.61E-13 Neuroblastoma (high-risk) HPOID:0003006 DOID:769 C intron GWASdb_trait 2 215653887 rs7587476 T C rs7587476 4.00E-14 Neuroblastoma HPOID:0003006 DOID:769 C intron GWASdb_trait 2 215653887 rs7587476 T C rs7587476 3.05E-13 Neuroblastoma HPOID:0003006 DOID:769 C intron GWASdb_trait 2 215666904 rs6712055 T C rs6712055 5.17E-12 Neuroblastoma (high-risk) HPOID:0003006 DOID:769 T intron GWASdb_trait 2 215666904 rs6712055 T C rs6712055 2.17E-09 Neuroblastoma HPOID:0003006 DOID:769 T intron GWASdb_trait 2 215672041 rs16852802 T C rs16852802 8.50E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 2 215672546 rs6435862 G T rs6435862 9.00E-18 Neuroblastoma (high-risk) HPOID:0003006 DOID:769 T intron GWASdb_trait 2 215672546 rs6435862 G T rs6435862 9.00E-18 Nasopharyngeal carcinoma HPOID:0100630 DOID:9261 T intron GWASdb_trait 2 215672546 rs6435862 G T rs6435862 2.93E-09 Neuroblastoma HPOID:0003006 DOID:769 T intron GWASdb_trait 2 215673440 rs6715570 T C rs6715570 1.02E-12 Neuroblastoma (high-risk) HPOID:0003006 DOID:769 T intron GWASdb_trait 2 215673440 rs6715570 T C rs6715570 1.21E-09 Neuroblastoma HPOID:0003006 DOID:769 T intron GWASdb_trait

Disease associated variation - GWAS Central Study Name Source Marker Accession Chromosome Marker Start Marker Stop Alleles Gene Section P-value -log(p-value) GWAS of prostate cancer rs10932568 2 215604252 215604252 intronic 0.817127 0.0877104390455747 GWAS of prostate cancer rs10498020 2 215619921 215619921 intronic 0.700215 0.154768590018498 GWAS of prostate cancer rs3768716 2 215635794 215635794 intronic 0.673182 0.17186750500338202 GWAS of prostate cancer rs1374230 2 215618779 215618779 intronic 0.62722 0.20258010186833403

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000138376.10 BARD1 601593