Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 26381 single nucleotide variant NM_000061.2(BTK):c.1574G>A (p.Arg525Gln) 128620183 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100609675 100609675 C T 26381 single nucleotide variant NM_000061.2(BTK):c.1574G>A (p.Arg525Gln) 128620183 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101354687 101354687 C T 26382 single nucleotide variant NM_000061.2(BTK):c.1288A>G (p.Lys430Glu) 128620184 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100611833 100611833 T C 26382 single nucleotide variant NM_000061.2(BTK):c.1288A>G (p.Lys430Glu) 128620184 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101356845 101356845 T C 26383 single nucleotide variant NM_000061.2(BTK):c.37C>T (p.Arg13Ter) 128620187 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100630236 100630236 G A 26383 single nucleotide variant NM_000061.2(BTK):c.37C>T (p.Arg13Ter) 128620187 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101375248 101375248 G A 26384 single nucleotide variant NM_000061.2(BTK):c.43C>T (p.Gln15Ter) 128620188 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100630230 100630230 G A 26384 single nucleotide variant NM_000061.2(BTK):c.43C>T (p.Gln15Ter) 128620188 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101375242 101375242 G A 26385 single nucleotide variant NM_000061.2(BTK):c.1082A>G (p.Tyr361Cys) 28935478 MedGen:C4016473 X 100613318 100613318 T C 26385 single nucleotide variant NM_000061.2(BTK):c.1082A>G (p.Tyr361Cys) 28935478 MedGen:C4016473 X 101358330 101358330 T C 26386 single nucleotide variant NM_000061.2(BTK):c.1750+5G>A 864321659 MedGen:C0472813,OMIM:307200,Orphanet:ORPHA632,SNOMED CT:C0472813 X 100608853 100608853 C T 26386 single nucleotide variant NM_000061.2(BTK):c.1750+5G>A 864321659 MedGen:C0472813,OMIM:307200,Orphanet:ORPHA632,SNOMED CT:C0472813 X 101353865 101353865 C T 26387 single nucleotide variant NM_000061.2(BTK):c.83G>A (p.Arg28His) 128620185 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100630190 100630190 C T 26387 single nucleotide variant NM_000061.2(BTK):c.83G>A (p.Arg28His) 128620185 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101375202 101375202 C T 26388 single nucleotide variant NM_000061.2(BTK):c.2T>C (p.Met1Thr) 128620186 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100630271 100630271 A G 26388 single nucleotide variant NM_000061.2(BTK):c.2T>C (p.Met1Thr) 128620186 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101375283 101375283 A G 26389 single nucleotide variant BTK, ALA-ASP, 1952C-A -1 MedGen:C0241932 na -1 -1 na na 26390 single nucleotide variant NM_000061.2(BTK):c.97A>C (p.Thr33Pro) 128620189 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100630176 100630176 T G 26390 single nucleotide variant NM_000061.2(BTK):c.97A>C (p.Thr33Pro) 128620189 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101375188 101375188 T G 26391 deletion NM_000061.2(BTK):c.228_231delAAGA (p.Glu76Aspfs) 864321660 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100629533 100629536 TCTT - 26391 deletion NM_000061.2(BTK):c.228_231delAAGA (p.Glu76Aspfs) 864321660 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101374545 101374548 TCTT - 26392 deletion NM_000061.2(BTK):c.141+3_141+4del 864321661 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101375140 101375141 TT - 26392 deletion NM_000061.2(BTK):c.141+3_141+4del 864321661 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100630128 100630129 TT - 26393 single nucleotide variant NM_000061.2(BTK):c.310-1G>C 864321662 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100625068 100625068 C G 26393 single nucleotide variant NM_000061.2(BTK):c.310-1G>C 864321662 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101370080 101370080 C G 26394 single nucleotide variant NM_000061.2(BTK):c.310-2A>G 864321663 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101370081 101370081 T C 26394 single nucleotide variant NM_000061.2(BTK):c.310-2A>G 864321663 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100625069 100625069 T C 26395 single nucleotide variant NM_000061.2(BTK):c.338T>A (p.Val113Asp) 128621190 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100625039 100625039 A T 26395 single nucleotide variant NM_000061.2(BTK):c.338T>A (p.Val113Asp) 128621190 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101370051 101370051 A T 26396 deletion NM_000061.2(BTK):c.389delA (p.Asn130Thrfs) 864321664 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100624988 100624988 T - 26396 deletion NM_000061.2(BTK):c.389delA (p.Asn130Thrfs) 864321664 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101370000 101370000 T - 26397 duplication NM_000061.2(BTK):c.557dupA (p.Pro187Alafs) 864321665 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100617192 100617192 T TT 26397 duplication NM_000061.2(BTK):c.557dupA (p.Pro187Alafs) 864321665 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101362204 101362204 T TT 26398 insertion BTK, 8-BP INS, NT721 -1 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 na -1 -1 na na 26399 deletion BTK, 1-BP DEL, CODON 218, A -1 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 na -1 -1 na na 26400 single nucleotide variant NM_000061.2(BTK):c.718G>T (p.Glu240Ter) 128621191 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100615614 100615614 C A 26400 single nucleotide variant NM_000061.2(BTK):c.718G>T (p.Glu240Ter) 128621191 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101360626 101360626 C A 26401 single nucleotide variant NM_000061.2(BTK):c.755G>A (p.Trp252Ter) 128621192 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100615577 100615577 C T 26401 single nucleotide variant NM_000061.2(BTK):c.755G>A (p.Trp252Ter) 128621192 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101360589 101360589 C T 26402 single nucleotide variant NM_000061.2(BTK):c.763C>T (p.Arg255Ter) 128621193 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100615569 100615569 G A 26402 single nucleotide variant NM_000061.2(BTK):c.763C>T (p.Arg255Ter) 128621193 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101360581 101360581 G A 26403 single nucleotide variant BTK, IVS9DS, G-A, +1 -1 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 na -1 -1 na na 26404 indel BTK, 1-BP DEL/3-BP INS, CODON 261 -1 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 na -1 -1 na na 26405 single nucleotide variant NM_000061.2(BTK):c.862C>T (p.Arg288Trp) 128621194 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100614313 100614313 G A 26405 single nucleotide variant NM_000061.2(BTK):c.862C>T (p.Arg288Trp) 128621194 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101359325 101359325 G A 26406 single nucleotide variant NM_000061.2(BTK):c.919A>G (p.Arg307Gly) 128621195 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100613660 100613660 T C 26406 single nucleotide variant NM_000061.2(BTK):c.919A>G (p.Arg307Gly) 128621195 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101358672 101358672 T C 26407 single nucleotide variant NM_000061.2(BTK):c.1001A>C (p.Tyr334Ser) 128621196 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100613399 100613399 T G 26407 single nucleotide variant NM_000061.2(BTK):c.1001A>C (p.Tyr334Ser) 128621196 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101358411 101358411 T G 26408 deletion BTK, 1-BP DEL, IVS11DS, +1G -1 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 na -1 -1 na na 26409 single nucleotide variant BTK, IVS12AS, A-T, -2 -1 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 na -1 -1 na na 26410 single nucleotide variant NM_000061.2(BTK):c.1125T>G (p.Tyr375Ter) 128621197 MedGen:C0472813,OMIM:307200,Orphanet:ORPHA632,SNOMED CT:C0472813 X 100612549 100612549 A C 26410 single nucleotide variant NM_000061.2(BTK):c.1125T>G (p.Tyr375Ter) 128621197 MedGen:C0472813,OMIM:307200,Orphanet:ORPHA632,SNOMED CT:C0472813 X 101357561 101357561 A C 26411 insertion BTK, 16-BP INS, NT1263 -1 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 na -1 -1 na na 26412 single nucleotide variant NM_000061.2(BTK):c.1223T>C (p.Leu408Pro) 128621198 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100611898 100611898 A G 26412 single nucleotide variant NM_000061.2(BTK):c.1223T>C (p.Leu408Pro) 128621198 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101356910 101356910 A G 26413 single nucleotide variant NM_000061.2(BTK):c.1275C>A (p.Tyr425Ter) 128621199 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100611846 100611846 G T 26413 single nucleotide variant NM_000061.2(BTK):c.1275C>A (p.Tyr425Ter) 128621199 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101356858 101356858 G T 26414 single nucleotide variant NM_000061.2(BTK):c.1506C>A (p.Cys502Ter) 41310709 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100611100 100611100 G T 26414 single nucleotide variant NM_000061.2(BTK):c.1506C>A (p.Cys502Ter) 41310709 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101356112 101356112 G T 26415 single nucleotide variant NM_000061.2(BTK):c.1516T>C (p.Cys506Arg) 128621200 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100611090 100611090 A G 26415 single nucleotide variant NM_000061.2(BTK):c.1516T>C (p.Cys506Arg) 128621200 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101356102 101356102 A G 26416 single nucleotide variant NM_000061.2(BTK):c.1558C>T (p.Arg520Ter) 128621201 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026;MedGen:CN221809 X 100611048 100611048 G A 26416 single nucleotide variant NM_000061.2(BTK):c.1558C>T (p.Arg520Ter) 128621201 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026;MedGen:CN221809 X 101356060 101356060 G A 26417 single nucleotide variant NM_000061.2(BTK):c.1559G>A (p.Arg520Gln) 128621202 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100611047 100611047 C T 26417 single nucleotide variant NM_000061.2(BTK):c.1559G>A (p.Arg520Gln) 128621202 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101356059 101356059 C T 26418 deletion BTK, 1-BP DEL, 1720A -1 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 na -1 -1 na na 26419 deletion BTK, 4-BP DEL, CODON 527, GTTT -1 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 na -1 -1 na na 26420 single nucleotide variant NM_000061.2(BTK):c.1625T>C (p.Leu542Pro) 128621203 MedGen:C0472813,OMIM:307200,Orphanet:ORPHA632,SNOMED CT:C0472813 X 100609624 100609624 A G 26420 single nucleotide variant NM_000061.2(BTK):c.1625T>C (p.Leu542Pro) 128621203 MedGen:C0472813,OMIM:307200,Orphanet:ORPHA632,SNOMED CT:C0472813 X 101354636 101354636 A G 26421 single nucleotide variant BTK, IVS16DS, G-T, +1 -1 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 na -1 -1 na na 26422 single nucleotide variant NM_000061.2(BTK):c.1684C>T (p.Arg562Trp) 128621204 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100608924 100608924 G A 26422 single nucleotide variant NM_000061.2(BTK):c.1684C>T (p.Arg562Trp) 128621204 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101353936 101353936 G A 26423 single nucleotide variant NM_000061.2(BTK):c.1741T>C (p.Trp581Arg) 128621205 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100608867 100608867 A G 26423 single nucleotide variant NM_000061.2(BTK):c.1741T>C (p.Trp581Arg) 128621205 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101353879 101353879 A G 26424 single nucleotide variant NM_000061.2(BTK):c.1766A>G (p.Glu589Gly) 128621206 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100608324 100608324 T C 26424 single nucleotide variant NM_000061.2(BTK):c.1766A>G (p.Glu589Gly) 128621206 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101353336 101353336 T C 26425 single nucleotide variant NM_000061.2(BTK):c.1773C>A (p.Tyr591Ter) 128621207 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100608317 100608317 G T 26425 single nucleotide variant NM_000061.2(BTK):c.1773C>A (p.Tyr591Ter) 128621207 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101353329 101353329 G T 26426 single nucleotide variant NM_000061.2(BTK):c.1820C>A (p.Ala607Asp) 128621208 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100608270 100608270 G T 26426 single nucleotide variant NM_000061.2(BTK):c.1820C>A (p.Ala607Asp) 128621208 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101353282 101353282 G T 26427 single nucleotide variant NM_000061.2(BTK):c.1838G>A (p.Gly613Asp) 128621209 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100608252 100608252 C T 26427 single nucleotide variant NM_000061.2(BTK):c.1838G>A (p.Gly613Asp) 128621209 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101353264 101353264 C T 26428 single nucleotide variant NM_000061.2(BTK):c.1889T>A (p.Met630Lys) 128621210 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100608201 100608201 A T 26428 single nucleotide variant NM_000061.2(BTK):c.1889T>A (p.Met630Lys) 128621210 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101353213 101353213 A T 26429 single nucleotide variant NM_000061.2(BTK):c.1906G>T (p.Glu636Ter) 128622211 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100608184 100608184 C A 26429 single nucleotide variant NM_000061.2(BTK):c.1906G>T (p.Glu636Ter) 128622211 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101353196 101353196 C A 26430 insertion BTK, 6-BP INS, NT2041 -1 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 na -1 -1 na na 26431 single nucleotide variant NM_000061.2(BTK):c.1955T>C (p.Leu652Pro) 128622212 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100604898 100604898 A G 26431 single nucleotide variant NM_000061.2(BTK):c.1955T>C (p.Leu652Pro) 128622212 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101349910 101349910 A G 26432 insertion BTK, 26-BP INS, NT2019 -1 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 na -1 -1 na na 26433 single nucleotide variant NM_000061.2(BTK):c.1685G>C (p.Arg562Pro) 104894770 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100608923 100608923 C G 26433 single nucleotide variant NM_000061.2(BTK):c.1685G>C (p.Arg562Pro) 104894770 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101353935 101353935 C G 26434 deletion BTK, 2-BP DEL, 54TG -1 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 na -1 -1 na na 26435 single nucleotide variant BTK, IVS1DS, G-A, +5 -1 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 na -1 -1 na na 26436 deletion BTK, 6.1-KB DEL -1 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 na -1 -1 na na 44421 single nucleotide variant NM_000061.2(BTK):c.1455C>A (p.Tyr485Ter) 193922124 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100611151 100611151 G T 44421 single nucleotide variant NM_000061.2(BTK):c.1455C>A (p.Tyr485Ter) 193922124 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101356163 101356163 G T 44422 single nucleotide variant NM_000061.2(BTK):c.1511A>T (p.Asp504Val) 193922125 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100611095 100611095 T A 44422 single nucleotide variant NM_000061.2(BTK):c.1511A>T (p.Asp504Val) 193922125 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101356107 101356107 T A 44423 deletion NM_000061.2(BTK):c.1673_1680delAATTTCCA (p.Lys558Serfs) 193922126 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100608928 100608935 TGGAAATT - 44423 deletion NM_000061.2(BTK):c.1673_1680delAATTTCCA (p.Lys558Serfs) 193922126 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101353940 101353947 TGGAAATT - 44424 duplication NM_000061.2(BTK):c.391+143dupA 193922127 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100624843 100624843 T TT 44424 duplication NM_000061.2(BTK):c.391+143dupA 193922127 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101369855 101369855 T TT 44425 deletion NM_000061.2(BTK):c.472_475delACAG (p.Thr158Profs) 193922128 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100617594 100617597 CTGT - 44425 deletion NM_000061.2(BTK):c.472_475delACAG (p.Thr158Profs) 193922128 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101362606 101362609 CTGT - 44426 single nucleotide variant NM_000061.2(BTK):c.777-2A>G 193922129 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100615140 100615140 T C 44426 single nucleotide variant NM_000061.2(BTK):c.777-2A>G 193922129 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101360152 101360152 T C 44427 single nucleotide variant NM_000061.2(BTK):c.777-3C>G 193922130 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100615141 100615141 G C 44427 single nucleotide variant NM_000061.2(BTK):c.777-3C>G 193922130 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101360153 101360153 G C 44428 single nucleotide variant NM_000061.2(BTK):c.840-1G>A 193922131 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100614336 100614336 C T 44428 single nucleotide variant NM_000061.2(BTK):c.840-1G>A 193922131 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101359348 101359348 C T 44429 single nucleotide variant NM_000061.2(BTK):c.895-2A>G 193922132 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100613686 100613686 T C 44429 single nucleotide variant NM_000061.2(BTK):c.895-2A>G 193922132 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101358698 101358698 T C 44430 single nucleotide variant NM_000061.2(BTK):c.998A>G (p.His333Arg) 193922133 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100613402 100613402 T C 44430 single nucleotide variant NM_000061.2(BTK):c.998A>G (p.His333Arg) 193922133 MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101358414 101358414 T C 192073 single nucleotide variant NM_000061.2(BTK):c.1909-9T>C 782702231 MedGen:CN169374 X 100604953 100604953 A G 192073 single nucleotide variant NM_000061.2(BTK):c.1909-9T>C 782702231 MedGen:CN169374 X 101349965 101349965 A G 237392 single nucleotide variant NM_000061.2(BTK):c.141+11C>T 138411530 MedGen:C0271563;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026;MedGen:CN221809 X 101375133 101375133 G A 237392 single nucleotide variant NM_000061.2(BTK):c.141+11C>T 138411530 MedGen:C0271563;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026;MedGen:CN221809 X 100630121 100630121 G A 257719 single nucleotide variant NM_000061.2(BTK):c.1899C>T (p.Cys633=) 1135363 MedGen:C0271563;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026;MedGen:CN169374 X 100608191 100608191 G A 257719 single nucleotide variant NM_000061.2(BTK):c.1899C>T (p.Cys633=) 1135363 MedGen:C0271563;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026;MedGen:CN169374 X 101353203 101353203 G A 260270 single nucleotide variant NM_000061.2(BTK):c.1760T>C (p.Met587Thr) 886039321 MedGen:CN221809 X 100608330 100608330 A G 260270 single nucleotide variant NM_000061.2(BTK):c.1760T>C (p.Met587Thr) 886039321 MedGen:CN221809 X 101353342 101353342 A G 260271 single nucleotide variant NM_000061.2(BTK):c.1632-2A>G 886039555 MedGen:CN221809 X 100608978 100608978 T C 260271 single nucleotide variant NM_000061.2(BTK):c.1632-2A>G 886039555 MedGen:CN221809 X 101353990 101353990 T C 260272 single nucleotide variant NM_000061.2(BTK):c.307C>T (p.Gln103Ter) 886039657 MedGen:CN221809 X 100626623 100626623 G A 260272 single nucleotide variant NM_000061.2(BTK):c.307C>T (p.Gln103Ter) 886039657 MedGen:CN221809 X 101371635 101371635 G A 264795 single nucleotide variant NM_000061.2(BTK):c.469C>T (p.Gln157Ter) 886041473 MedGen:CN221809 X 100617600 100617600 G A 264795 single nucleotide variant NM_000061.2(BTK):c.469C>T (p.Gln157Ter) 886041473 MedGen:CN221809 X 101362612 101362612 G A 264940 single nucleotide variant NM_000061.2(BTK):c.1573C>T (p.Arg525Ter) 886041149 MedGen:CN221809 X 100609676 100609676 G A 264940 single nucleotide variant NM_000061.2(BTK):c.1573C>T (p.Arg525Ter) 886041149 MedGen:CN221809 X 101354688 101354688 G A 265134 duplication NM_000061.2(BTK):c.215dupA (p.Asn72Lysfs) 886041148 MedGen:CN221809 X 100629549 100629549 T TT 265134 duplication NM_000061.2(BTK):c.215dupA (p.Asn72Lysfs) 886041148 MedGen:CN221809 X 101374561 101374561 T TT 270564 single nucleotide variant NM_000061.2(BTK):c.615G>T (p.Glu205Asp) 35877704 MedGen:C0271563;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026;MedGen:CN169374 X 100615717 100615717 C A 270564 single nucleotide variant NM_000061.2(BTK):c.615G>T (p.Glu205Asp) 35877704 MedGen:C0271563;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026;MedGen:CN169374 X 101360729 101360729 C A 272094 single nucleotide variant NM_000061.2(BTK):c.894+7G>A 886044875 MedGen:CN169374 X 100614274 100614274 C T 272094 single nucleotide variant NM_000061.2(BTK):c.894+7G>A 886044875 MedGen:CN169374 X 101359286 101359286 C T 274089 single nucleotide variant NM_000061.2(BTK):c.142-8C>T 782365356 MedGen:CN169374 X 100629630 100629630 G A 274089 single nucleotide variant NM_000061.2(BTK):c.142-8C>T 782365356 MedGen:CN169374 X 101374642 101374642 G A 338671 single nucleotide variant NM_000061.2(BTK):c.*334T>G 183674618 MedGen:C0271563;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100604539 100604539 A C 338671 single nucleotide variant NM_000061.2(BTK):c.*334T>G 183674618 MedGen:C0271563;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101349551 101349551 A C 338673 single nucleotide variant NM_000061.2(BTK):c.895-10G>A 370812397 MedGen:C0271563;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101358706 101358706 C T 338673 single nucleotide variant NM_000061.2(BTK):c.895-10G>A 370812397 MedGen:C0271563;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100613694 100613694 C T 338675 single nucleotide variant NM_000061.2(BTK):c.852A>G (p.Lys284=) 1057515724 MedGen:C0271563;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101359335 101359335 T C 338675 single nucleotide variant NM_000061.2(BTK):c.852A>G (p.Lys284=) 1057515724 MedGen:C0271563;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100614323 100614323 T C 338677 single nucleotide variant NM_000061.2(BTK):c.520+15C>T 782697907 MedGen:C0271563;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101362546 101362546 G A 338677 single nucleotide variant NM_000061.2(BTK):c.520+15C>T 782697907 MedGen:C0271563;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100617534 100617534 G A 348274 deletion NM_000061.2(BTK):c.*342_*343delTG 1057515723 MedGen:C0271563;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100604530 100604531 CA - 348274 deletion NM_000061.2(BTK):c.*342_*343delTG 1057515723 MedGen:C0271563;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101349542 101349543 CA - 348276 single nucleotide variant NM_000061.2(BTK):c.954T>C (p.Ser318=) 5991926 MedGen:C0271563;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101358637 101358637 A G 348276 single nucleotide variant NM_000061.2(BTK):c.954T>C (p.Ser318=) 5991926 MedGen:C0271563;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100613625 100613625 A G 351929 single nucleotide variant NM_000061.2(BTK):c.*342T>G 781937023 MedGen:C0271563;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100604531 100604531 A C 351929 single nucleotide variant NM_000061.2(BTK):c.*342T>G 781937023 MedGen:C0271563;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101349543 101349543 A C 351930 single nucleotide variant NM_000061.2(BTK):c.*192G>A 1057403 MedGen:C0271563;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101349693 101349693 C T 351930 single nucleotide variant NM_000061.2(BTK):c.*192G>A 1057403 MedGen:C0271563;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100604681 100604681 C T 351932 single nucleotide variant NM_000061.2(BTK):c.-105G>T 1057515725 MedGen:C0271563;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101386136 101386136 C A 351932 single nucleotide variant NM_000061.2(BTK):c.-105G>T 1057515725 MedGen:C0271563;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100641124 100641124 C A 352708 single nucleotide variant NM_000061.2(BTK):c.*116A>C 700 MedGen:C0271563;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 101349769 101349769 T G 352708 single nucleotide variant NM_000061.2(BTK):c.*116A>C 700 MedGen:C0271563;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:C0221026 X 100604757 100604757 T G 360510 single nucleotide variant NM_000061.2(BTK):c.1064T>A (p.Ile355Asn) 1057517709 MedGen:CN221809 X 101358348 101358348 A T 360510 single nucleotide variant NM_000061.2(BTK):c.1064T>A (p.Ile355Asn) 1057517709 MedGen:CN221809 X 100613336 100613336 A T 360547 single nucleotide variant NM_000061.2(BTK):c.1103G>A (p.Gly368Glu) 1057517710 MedGen:CN221809 X 100612571 100612571 C T 360547 single nucleotide variant NM_000061.2(BTK):c.1103G>A (p.Gly368Glu) 1057517710 MedGen:CN221809 X 101357583 101357583 C T

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 X 100604652 rs1122765 C A rs1122765 1.20E-04 Atrial fibrillation HPOID:0005110 DOID:0050650 C UTR-3 GWASdb_trait X 100632637 rs2239461 C T rs2239461 1.16E-05 Parkinson's disease HPOID:0001300 DOID:14330 A intron GWASdb_trait X 100639887 rs2238983 T C rs2238983 1.60E-05 Urinary metabolites HPOID:0000079 DOID:557 A intron GWASdb_trait X 100639887 rs2238983 T C rs2238983 1.19E-04 Telomere length HPOID:0000118 NA A 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 rs2855259 X 100615478 100615478 intronic 0.700565 0.15455156368769798 GWAS of prostate cancer rs3027629 X 100626864 100626864 intronic 0.628301 0.201832249063089 GWAS of prostate cancer rs2071223 X 100609547 100609547 intronic 0.561251 0.250842872190678 GWAS of prostate cancer rs2238983 X 100639887 100639887 intronic 0.552714 0.257499534792673 GWAS of prostate cancer rs2071222 X 100617372 100617372 intronic 0.407637 0.38972640325603003 GWAS of prostate cancer rs2071229 X 100641574 100641574 upstream 0.314128 0.502893350759975 GWAS of prostate cancer rs3027623 X 100631138 100631138 intronic 0.286932 0.542221014499072 GWAS of prostate cancer rs2238986 X 100631663 100631663 intronic 0.18013 0.744413950981442

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000010671.15 BTK 300300