ClinVar Miner

List of variants reported as likely pathogenic for capillary malformation

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 136
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HGVS dbSNP
NC_000005.10:g.(?_87390790)_(87390893_?)del
NC_000009.11:g.(?_130578190)_(130592112_?)dup
NC_000009.11:g.(?_130586563)_(130592126_?)dup
NC_000009.11:g.(?_130586573)_(130592116_?)dup
NC_000009.11:g.(?_130605373)_(130605524_?)dup
NC_000009.12:g.(?_127824284)_(127824994_?)del
NC_000009.12:g.(?_127824284)_(127829847_?)del
NC_000009.12:g.(?_127824294)_(127825367_?)dup
NC_000009.12:g.(?_127824294)_(127826683_?)del
NM_000020.2(ACVRL1):c.100dup (p.Cys34fs) rs1555152440
NM_000020.2(ACVRL1):c.1031G>T (p.Cys344Phe) rs28936688
NM_000020.2(ACVRL1):c.1049-1G>A rs1060503242
NM_000020.2(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.2(ACVRL1):c.1126A>G (p.Met376Val) rs1555153277
NM_000020.2(ACVRL1):c.1129G>A (p.Ala377Thr) rs1565594969
NM_000020.2(ACVRL1):c.1188_1189delinsAA (p.Asp397Asn) rs1592225036
NM_000020.2(ACVRL1):c.1204G>A (p.Gly402Ser) rs1555153354
NM_000020.2(ACVRL1):c.1220A>G (p.Glu407Gly) rs1565595121
NM_000020.2(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.2(ACVRL1):c.1246+2T>C rs1555153382
NM_000020.2(ACVRL1):c.1270C>A (p.Pro424Thr) rs1085307419
NM_000020.2(ACVRL1):c.1313T>C (p.Met438Thr) rs1555153828
NM_000020.2(ACVRL1):c.1378-1G>A rs1060503237
NM_000020.2(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.2(ACVRL1):c.143G>A (p.Gly48Glu) rs267606632
NM_000020.2(ACVRL1):c.148T>C (p.Trp50Arg) rs1555152468
NM_000020.2(ACVRL1):c.200G>A (p.Arg67Gln) rs863223414
NM_000020.2(ACVRL1):c.200G>C (p.Arg67Pro) rs863223414
NM_000020.2(ACVRL1):c.267C>G (p.Cys89Trp) rs1592221930
NM_000020.2(ACVRL1):c.269G>A (p.Cys90Tyr) rs863223410
NM_000020.2(ACVRL1):c.578T>C (p.Leu193Pro) rs1555152790
NM_000020.2(ACVRL1):c.632G>A (p.Gly211Asp) rs28936687
NM_000020.2(ACVRL1):c.698C>T (p.Ser233Leu) rs762773076
NM_000020.2(ACVRL1):c.772G>A (p.Gly258Ser) rs1555152966
NM_000020.2(ACVRL1):c.905T>C (p.Leu302Pro) rs1565594217
NM_000020.2(ACVRL1):c.925G>A (p.Gly309Ser) rs1555153133
NM_000020.2(ACVRL1):c.986G>A (p.Arg329His) rs863223412
NM_000020.3(ACVRL1):c.1010T>C (p.Leu337Pro) rs1592224349
NM_000020.3(ACVRL1):c.1030_1048+18del
NM_000020.3(ACVRL1):c.1037_1039del (p.Ile346_Ala347delinsThr)
NM_000020.3(ACVRL1):c.106T>C (p.Cys36Arg)
NM_000020.3(ACVRL1):c.1120C>G (p.Arg374Gly)
NM_000020.3(ACVRL1):c.1132C>T (p.Pro378Ser) rs959973779
NM_000020.3(ACVRL1):c.1133C>G (p.Pro378Arg)
NM_000020.3(ACVRL1):c.1189G>A (p.Asp397Asn)
NM_000020.3(ACVRL1):c.122G>A (p.Cys41Tyr)
NM_000020.3(ACVRL1):c.1231_1246+4dup
NM_000020.3(ACVRL1):c.1246+5G>A
NM_000020.3(ACVRL1):c.1298C>A (p.Pro433His)
NM_000020.3(ACVRL1):c.1325T>C (p.Val442Ala)
NM_000020.3(ACVRL1):c.1427C>G (p.Pro476Arg)
NM_000020.3(ACVRL1):c.1457AGA[1] (p.Lys487del)
NM_000020.3(ACVRL1):c.1459A>C (p.Lys487Gln)
NM_000020.3(ACVRL1):c.631G>T (p.Gly211Cys)
NM_000020.3(ACVRL1):c.686A>T (p.Lys229Met)
NM_000020.3(ACVRL1):c.687G>C (p.Lys229Asn)
NM_000020.3(ACVRL1):c.773-3C>G rs1592223964
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys)
NM_000020.3(ACVRL1):c.830C>G (p.Thr277Arg)
NM_000020.3(ACVRL1):c.848G>T (p.Gly283Val)
NM_000020.3(ACVRL1):c.863T>C (p.Phe288Ser)
NM_000020.3(ACVRL1):c.916G>C (p.Ala306Pro)
NM_000020.3(ACVRL1):c.916_917insTCA (p.Ala306delinsValThr)
NM_000020.3(ACVRL1):c.940C>A (p.His314Asn)
NM_000020.3(ACVRL1):c.982C>T (p.His328Tyr)
NM_000020.3(ACVRL1):c.999C>G (p.Ser333Arg)
NM_000118.3(ENG):c.-127C>T rs1060501408
NM_000118.3(ENG):c.-8_8del (p.Met1fs) rs1588604603
NM_000118.3(ENG):c.1088G>C (p.Cys363Ser) rs1588580782
NM_000118.3(ENG):c.1134G>A (p.Ala378=) rs1329127701
NM_000118.3(ENG):c.1166_1168del (p.Phe389del) rs1588577016
NM_000118.3(ENG):c.1220G>A (p.Ser407Asn) rs1554809516
NM_000118.3(ENG):c.1306C>T (p.Gln436Ter) rs1554809450
NM_000118.3(ENG):c.1311G>T (p.Arg437=) rs1554809448
NM_000118.3(ENG):c.1429-2A>G rs1564452759
NM_000118.3(ENG):c.1479C>A (p.Cys493Ter) rs1197761705
NM_000118.3(ENG):c.155G>A (p.Gly52Asp) rs1564462765
NM_000118.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_000118.3(ENG):c.1A>G (p.Met1Val) rs1060501418
NM_000118.3(ENG):c.220-1G>A rs1554810936
NM_000118.3(ENG):c.23T>C (p.Leu8Pro) rs1564466414
NM_000118.3(ENG):c.259C>T (p.Gln87Ter) rs730880096
NM_000118.3(ENG):c.360+4A>G rs1564457752
NM_000118.3(ENG):c.360+5G>A rs1060501417
NM_000118.3(ENG):c.360+5G>C rs1060501417
NM_000118.3(ENG):c.408del (p.Glu137fs) rs1554810506
NM_000118.3(ENG):c.41T>C (p.Leu14Pro) rs1554813788
NM_000118.3(ENG):c.523G>T (p.Ala175Ser) rs1588583488
NM_000118.3(ENG):c.581_592del (p.Leu194_Arg197del) rs1554810408
NM_000118.3(ENG):c.659T>C (p.Ile220Thr) rs1588582695
NM_000118.3(ENG):c.68-1G>A rs878853659
NM_000118.3(ENG):c.68-3C>G rs773334730
NM_000118.3(ENG):c.690-1G>A rs1554810272
NM_000118.3(ENG):c.780_789dup (p.Asp264fs) rs1588581846
NM_000118.3(ENG):c.816+1G>A rs111471193
NM_000118.3(ENG):c.899T>C (p.Leu300Pro) rs1335718486
NM_000118.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_001077401.2(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284
NM_001114753.3(ENG):c.1241T>A (p.Met414Lys)
NM_001114753.3(ENG):c.1268A>G (p.Asn423Ser)
NM_001114753.3(ENG):c.1311+5G>A
NM_001114753.3(ENG):c.1311+5G>C
NM_001114753.3(ENG):c.1484T>C (p.Leu495Pro)
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly)
NM_001114753.3(ENG):c.1686+5G>A
NM_001114753.3(ENG):c.290T>G (p.Leu97Arg)
NM_001114753.3(ENG):c.503TCC[4] (p.Leu170dup)
NM_001114753.3(ENG):c.620G>A (p.Cys207Tyr)
NM_001114753.3(ENG):c.620G>T (p.Cys207Phe)
NM_001114753.3(ENG):c.646A>G (p.Lys216Glu)
NM_001114753.3(ENG):c.763G>T (p.Gly255Cys)
NM_001114753.3(ENG):c.896T>G (p.Leu299Arg)
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp)
NM_002890.3(RASA1):c.1333-17_1340del
NM_002890.3(RASA1):c.1698+2T>C rs1561316757
NM_002890.3(RASA1):c.1777-2A>T
NM_002890.3(RASA1):c.1934+2T>G
NM_002890.3(RASA1):c.1935-3T>G rs201249348
NM_002890.3(RASA1):c.2452_2453del (p.Ile818fs)
NM_002890.3(RASA1):c.2847+1G>A rs1060503438
NM_002890.3(RASA1):c.3055C>T (p.Gln1019Ter) rs1060503440
NM_002890.3(RASA1):c.3109_3112del (p.Gln1037fs) rs1554051094
NM_002890.3(RASA1):c.539+1G>C
NM_002890.3(RASA1):c.693-6_711del
NM_002890.3(RASA1):c.828+1G>A
NM_004444.5(EPHB4):c.1950G>T (p.Lys650Asn) rs1584658113
NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys) rs1562969219
NM_004444.5(EPHB4):c.2102T>G (p.Leu701Arg)
NM_004444.5(EPHB4):c.2233A>G (p.Asn745Asp) rs1584654433
NM_004444.5(EPHB4):c.2405A>G (p.Asp802Gly) rs776410552
NM_004444.5(EPHB4):c.2418C>G (p.Tyr806Ter) rs377702127
NM_004444.5(EPHB4):c.2512C>T (p.Arg838Trp) rs764827256
NM_004444.5(EPHB4):c.2533T>C (p.Cys845Arg) rs1584653054
NM_004444.5(EPHB4):c.2567G>A (p.Cys856Tyr) rs1584653005
NM_004444.5(EPHB4):c.2599T>C (p.Phe867Leu) rs1584652949
NM_016204.4(GDF2):c.1051T>C (p.Tyr351His) rs1486994359

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