ClinVar Miner

List of variants in gene ACVRL1 reported as uncertain significance for capillary malformation

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 124
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HGVS dbSNP
NM_000020.2(ACVRL1):c.*120G>A rs539571133
NM_000020.2(ACVRL1):c.*131C>T rs886049610
NM_000020.2(ACVRL1):c.*1351G>A rs886049616
NM_000020.2(ACVRL1):c.*1493G>A rs565400159
NM_000020.2(ACVRL1):c.*1630C>T rs886049617
NM_000020.2(ACVRL1):c.*1662A>T rs886049618
NM_000020.2(ACVRL1):c.*1689G>A rs139351455
NM_000020.2(ACVRL1):c.*1777G>A rs546585572
NM_000020.2(ACVRL1):c.*1839C>T rs755262319
NM_000020.2(ACVRL1):c.*200A>G rs886049611
NM_000020.2(ACVRL1):c.*205G>A rs886049612
NM_000020.2(ACVRL1):c.*2098A>C rs886049619
NM_000020.2(ACVRL1):c.*2277A>T rs529631289
NM_000020.2(ACVRL1):c.*2347A>C rs573540605
NM_000020.2(ACVRL1):c.*242A>G rs147728309
NM_000020.2(ACVRL1):c.*251A>G rs886049613
NM_000020.2(ACVRL1):c.*879G>T rs886049615
NM_000020.2(ACVRL1):c.-129G>A rs886049607
NM_000020.2(ACVRL1):c.-194A>C rs886049606
NM_000020.2(ACVRL1):c.-52G>A rs573048639
NM_000020.2(ACVRL1):c.-58G>A rs886049608
NM_000020.2(ACVRL1):c.1004A>T (p.Asn335Ile) rs1060503247
NM_000020.2(ACVRL1):c.1007T>A (p.Val336Glu) rs1565594467
NM_000020.2(ACVRL1):c.1025T>C (p.Leu342Pro) rs762287966
NM_000020.2(ACVRL1):c.1027_1047del (p.Gln343_Leu349del) rs1592224385
NM_000020.2(ACVRL1):c.1028A>C (p.Gln343Pro) rs1592224402
NM_000020.2(ACVRL1):c.1033T>C (p.Cys345Arg) rs1060503239
NM_000020.2(ACVRL1):c.1034G>A (p.Cys345Tyr) rs1592224431
NM_000020.2(ACVRL1):c.1093G>A (p.Gly365Ser) rs749510030
NM_000020.2(ACVRL1):c.1121G>C (p.Arg374Pro) rs1060503248
NM_000020.2(ACVRL1):c.1190A>T (p.Asp397Val) rs1592225044
NM_000020.2(ACVRL1):c.1228C>T (p.Arg410Cys) rs781770577
NM_000020.2(ACVRL1):c.1249A>T (p.Ile417Phe) rs141653630
NM_000020.2(ACVRL1):c.1310A>G (p.Asp437Gly) rs1060503238
NM_000020.2(ACVRL1):c.1324G>A (p.Val442Met) rs1085307421
NM_000020.2(ACVRL1):c.137G>C (p.Cys46Ser) rs1555152454
NM_000020.2(ACVRL1):c.1412G>A (p.Cys471Tyr) rs1555154137
NM_000020.2(ACVRL1):c.1416G>C (p.Trp472Cys) rs1060503243
NM_000020.2(ACVRL1):c.1416G>T (p.Trp472Cys) rs1060503243
NM_000020.2(ACVRL1):c.1448T>G (p.Leu483Arg) rs1565597471
NM_000020.2(ACVRL1):c.208G>A (p.Gly70Arg) rs1439294840
NM_000020.2(ACVRL1):c.236G>A (p.Gly79Glu) rs1283365095
NM_000020.2(ACVRL1):c.265T>G (p.Cys89Gly) rs1555152520
NM_000020.2(ACVRL1):c.266G>T (p.Cys89Phe) rs1060503234
NM_000020.2(ACVRL1):c.269G>T (p.Cys90Phe) rs863223410
NM_000020.2(ACVRL1):c.293A>G (p.Asn98Ser) rs1085307406
NM_000020.2(ACVRL1):c.313+7C>T rs374171506
NM_000020.2(ACVRL1):c.368T>C (p.Leu123Pro) rs762756031
NM_000020.2(ACVRL1):c.429C>T (p.Val143=) rs762047618
NM_000020.2(ACVRL1):c.470T>C (p.Leu157Pro) rs1371249289
NM_000020.2(ACVRL1):c.518T>C (p.Met173Thr) rs754813319
NM_000020.2(ACVRL1):c.526-7C>A rs772776468
NM_000020.2(ACVRL1):c.557G>T (p.Ser186Ile) rs1288729113
NM_000020.2(ACVRL1):c.593T>C (p.Val198Ala) rs886043123
NM_000020.2(ACVRL1):c.653G>C (p.Arg218Pro) rs779287554
NM_000020.2(ACVRL1):c.655G>C (p.Gly219Arg) rs1592223416
NM_000020.2(ACVRL1):c.682G>A (p.Val228Ile) rs138048445
NM_000020.2(ACVRL1):c.685A>G (p.Lys229Glu) rs1592223468
NM_000020.2(ACVRL1):c.706G>A (p.Glu236Lys) rs1592223490
NM_000020.2(ACVRL1):c.713C>T (p.Ser238Phe) rs761033311
NM_000020.2(ACVRL1):c.773-7_773-6delinsTC rs1555153071
NM_000020.2(ACVRL1):c.851C>T (p.Ser284Phe) rs768643771
NM_000020.2(ACVRL1):c.905T>C (p.Leu302Pro) rs1565594217
NM_000020.2(ACVRL1):c.916_917delinsAA (p.Ala306Lys) rs1060503244
NM_000020.2(ACVRL1):c.920C>A (p.Ala307Glu) rs863223411
NM_000020.2(ACVRL1):c.925G>C (p.Gly309Arg) rs1555153133
NM_000020.2(ACVRL1):c.969A>C (p.Lys323Asn) rs771877309
NM_000020.2(ACVRL1):c.984C>A (p.His328Gln) rs1565594410
NM_000020.2(ACVRL1):c.992T>C (p.Phe331Ser) rs1166311240
NM_000020.3(ACVRL1):c.*1107G>T
NM_000020.3(ACVRL1):c.*132G>A
NM_000020.3(ACVRL1):c.*1560A>G
NM_000020.3(ACVRL1):c.*1599A>G
NM_000020.3(ACVRL1):c.*1676T>C
NM_000020.3(ACVRL1):c.*2034G>T
NM_000020.3(ACVRL1):c.*2113C>T
NM_000020.3(ACVRL1):c.*2252G>A
NM_000020.3(ACVRL1):c.*2268G>C
NM_000020.3(ACVRL1):c.*2440G>T
NM_000020.3(ACVRL1):c.*478G>A
NM_000020.3(ACVRL1):c.*590G>T
NM_000020.3(ACVRL1):c.*592G>A
NM_000020.3(ACVRL1):c.*814G>A
NM_000020.3(ACVRL1):c.*980C>T
NM_000020.3(ACVRL1):c.-168G>C
NM_000020.3(ACVRL1):c.-5-59C>T rs563686436
NM_000020.3(ACVRL1):c.1010T>C (p.Leu337Pro) rs1592224349
NM_000020.3(ACVRL1):c.1013T>G (p.Val338Gly)
NM_000020.3(ACVRL1):c.1042G>T (p.Asp348Tyr)
NM_000020.3(ACVRL1):c.1048+3_1048+4delinsTT
NM_000020.3(ACVRL1):c.1064A>C (p.His355Pro)
NM_000020.3(ACVRL1):c.1112G>C (p.Gly371Ala)
NM_000020.3(ACVRL1):c.1163A>G (p.Asp388Gly)
NM_000020.3(ACVRL1):c.1165_1179del (p.Cys389_Tyr393del)
NM_000020.3(ACVRL1):c.1247G>C (p.Gly416Ala)
NM_000020.3(ACVRL1):c.1258G>A (p.Asp420Asn)
NM_000020.3(ACVRL1):c.1376C>T (p.Pro459Leu)
NM_000020.3(ACVRL1):c.1377+4A>T
NM_000020.3(ACVRL1):c.1377G>A (p.Pro459=)
NM_000020.3(ACVRL1):c.1405C>T (p.Arg469Trp)
NM_000020.3(ACVRL1):c.1411T>G (p.Cys471Gly)
NM_000020.3(ACVRL1):c.1427C>G (p.Pro476Arg)
NM_000020.3(ACVRL1):c.1427C>T (p.Pro476Leu)
NM_000020.3(ACVRL1):c.1459A>G (p.Lys487Glu)
NM_000020.3(ACVRL1):c.1465C>A (p.Leu489Ile)
NM_000020.3(ACVRL1):c.251T>G (p.Phe84Cys)
NM_000020.3(ACVRL1):c.263A>G (p.Tyr88Cys)
NM_000020.3(ACVRL1):c.270C>T (p.Cys90=)
NM_000020.3(ACVRL1):c.338C>T (p.Pro113Leu)
NM_000020.3(ACVRL1):c.369G>A (p.Leu123=)
NM_000020.3(ACVRL1):c.431G>A (p.Arg144Gln)
NM_000020.3(ACVRL1):c.5C>T (p.Thr2Ile)
NM_000020.3(ACVRL1):c.611TGG[1] (p.Val205del) rs1060503250
NM_000020.3(ACVRL1):c.615G>A (p.Val205=)
NM_000020.3(ACVRL1):c.625G>A (p.Gly209Arg)
NM_000020.3(ACVRL1):c.626-9G>A
NM_000020.3(ACVRL1):c.722G>A (p.Arg241Gln)
NM_000020.3(ACVRL1):c.737A>G (p.Tyr246Cys)
NM_000020.3(ACVRL1):c.830C>G (p.Thr277Arg)
NM_000020.3(ACVRL1):c.890A>G (p.His297Arg) rs139380315
NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val) rs150038846
NM_000020.3(ACVRL1):c.979G>C (p.Ala327Pro)
NM_000020.3(ACVRL1):c.9G>A (p.Leu3=) rs779236098
NM_001077401.2(ACVRL1):c.1177_1179delinsCAA (p.Tyr393Gln) rs1565595070

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