ClinVar Miner

List of variants reported as uncertain significance for capillary malformation

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 599
Download table as spreadsheet
HGVS dbSNP
NC_000009.12:g.(?_127819612)_(127820047_?)dup
NC_000010.10:g.(?_48413558)_(48416713_?)del
NC_000010.10:g.(?_48413568)_(48416703_?)del
NC_000010.10:g.(?_48413568)_(48416703_?)dup
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_000118.3(ENG):c.*134G>A rs745843047
NM_000118.3(ENG):c.*26G>C rs371104611
NM_000118.3(ENG):c.*385C>A rs886063475
NM_000118.3(ENG):c.*487C>A rs886063474
NM_000118.3(ENG):c.*501G>A rs764451017
NM_000118.3(ENG):c.*508A>C rs138178682
NM_000118.3(ENG):c.-188G>A rs961480381
NM_000118.3(ENG):c.-246T>C rs886063478
NM_000118.3(ENG):c.-289A>C rs538284289
NM_000118.3(ENG):c.-338G>A rs534779092
NM_000118.3(ENG):c.-339C>T rs554349374
NM_000118.3(ENG):c.-364G>A
NM_000118.3(ENG):c.-395C>A rs886063479
NM_000118.3(ENG):c.-63C>T rs886063476
NM_000118.3(ENG):c.-70del rs886063477
NM_000118.3(ENG):c.-9G>A rs368423516
NM_000118.3(ENG):c.1015G>A (p.Ala339Thr) rs761463410
NM_000118.3(ENG):c.1036C>T (p.Pro346Ser) rs1554810062
NM_000118.3(ENG):c.1055C>T (p.Pro352Leu) rs1356571461
NM_000118.3(ENG):c.1067T>A (p.Met356Lys) rs138190783
NM_000118.3(ENG):c.1098C>T (p.Asp366=) rs201497772
NM_000118.3(ENG):c.1110G>A (p.Leu370=) rs1588580725
NM_000118.3(ENG):c.111C>T (p.Pro37=) rs755626994
NM_000118.3(ENG):c.112G>A (p.Glu38Lys) rs747481834
NM_000118.3(ENG):c.1133C>T (p.Ala378Val) rs143054595
NM_000118.3(ENG):c.1135-8C>T rs79426098
NM_000118.3(ENG):c.1154C>T (p.Thr385Met) rs199764615
NM_000118.3(ENG):c.1160T>C (p.Leu387Pro) rs1564453623
NM_000118.3(ENG):c.1166_1168del (p.Phe389del) rs1588577016
NM_000118.3(ENG):c.1217G>A (p.Arg406His) rs149065210
NM_000118.3(ENG):c.121G>A (p.Glu41Lys) rs199675436
NM_000118.3(ENG):c.1252G>C (p.Ala418Pro) rs150293362
NM_000118.3(ENG):c.1259T>C (p.Met420Thr) rs766272638
NM_000118.3(ENG):c.1273-5C>T rs779103881
NM_000118.3(ENG):c.1274C>A (p.Ala425Glu) rs369997021
NM_000118.3(ENG):c.1274C>T (p.Ala425Val) rs369997021
NM_000118.3(ENG):c.130T>G (p.Tyr44Asp) rs1554812271
NM_000118.3(ENG):c.1311+6A>G rs1060501416
NM_000118.3(ENG):c.1313A>G (p.Lys438Arg) rs755962839
NM_000118.3(ENG):c.1316A>C (p.Lys439Thr) rs368533266
NM_000118.3(ENG):c.1319T>G (p.Val440Gly) rs1554809363
NM_000118.3(ENG):c.1335G>A (p.Met445Ile) rs777564305
NM_000118.3(ENG):c.137C>T (p.Thr46Ile) rs1393437924
NM_000118.3(ENG):c.1389C>T (p.Ala463=) rs200168633
NM_000118.3(ENG):c.1406C>T (p.Pro469Leu) rs367753784
NM_000118.3(ENG):c.1408G>C (p.Gly470Arg) rs756263325
NM_000118.3(ENG):c.1428+5C>A rs1564452925
NM_000118.3(ENG):c.1429-9_1429-6dup rs762494923
NM_000118.3(ENG):c.1434A>T (p.Arg478Ser) rs778561832
NM_000118.3(ENG):c.1441C>T (p.Pro481Ser) rs1554809289
NM_000118.3(ENG):c.1469T>C (p.Leu490Ser) rs763475207
NM_000118.3(ENG):c.1585C>T (p.Arg529Cys) rs745316066
NM_000118.3(ENG):c.1592G>A (p.Ser531Asn) rs780884220
NM_000118.3(ENG):c.1672G>A (p.Gly558Arg) rs373230507
NM_000118.3(ENG):c.1682A>C (p.Asp561Ala) rs375965489
NM_000118.3(ENG):c.1695T>C (p.His565=) rs750637713
NM_000118.3(ENG):c.1699A>G (p.Thr567Ala) rs1554809101
NM_000118.3(ENG):c.1702G>A (p.Val568Ile) rs781201877
NM_000118.3(ENG):c.1726A>G (p.Ser576Gly) rs1564452024
NM_000118.3(ENG):c.1758C>T (p.Gly586=) rs150566847
NM_000118.3(ENG):c.1762G>A (p.Val588Ile) rs201768056
NM_000118.3(ENG):c.1780G>A (p.Gly594Ser) rs1060501409
NM_000118.3(ENG):c.1806C>T (p.Ile602=) rs373002544
NM_000118.3(ENG):c.1844C>G (p.Ser615Trp) rs148002300
NM_000118.3(ENG):c.1850C>T (p.Thr617Met) rs201031046
NM_000118.3(ENG):c.185T>A (p.Leu62His) rs1060501424
NM_000118.3(ENG):c.1873C>G (p.Gln625Glu) rs147188969
NM_000118.3(ENG):c.217A>G (p.Thr73Ala) rs1472137141
NM_000118.3(ENG):c.219+23G>A rs200726108
NM_000118.3(ENG):c.219+3G>A rs1419279746
NM_000118.3(ENG):c.220-6C>A rs756342212
NM_000118.3(ENG):c.310A>G (p.Ser104Gly) rs757343854
NM_000118.3(ENG):c.321G>T (p.Leu107=) rs767907933
NM_000118.3(ENG):c.322C>T (p.His108Tyr) rs756897517
NM_000118.3(ENG):c.350A>C (p.His117Pro) rs1588585799
NM_000118.3(ENG):c.360+5G>A rs1060501417
NM_000118.3(ENG):c.360C>T (p.Tyr120=) rs121918402
NM_000118.3(ENG):c.361-12_361-11del rs781079790
NM_000118.3(ENG):c.396_397delinsAA (p.Val133Ile) rs1554810507
NM_000118.3(ENG):c.405C>G (p.Thr135=) rs773521685
NM_000118.3(ENG):c.498G>C (p.Gln166His) rs1167818567
NM_000118.3(ENG):c.534_536del (p.Leu179del) rs1285249384
NM_000118.3(ENG):c.539C>T (p.Ser180Phe) rs375025857
NM_000118.3(ENG):c.565G>T (p.Asp189Tyr) rs147792018
NM_000118.3(ENG):c.575G>A (p.Arg192His) rs1029569378
NM_000118.3(ENG):c.578C>T (p.Thr193Met) rs775442178
NM_000118.3(ENG):c.583G>C (p.Glu195Gln) rs1255912441
NM_000118.3(ENG):c.589C>T (p.Arg197Trp) rs780987528
NM_000118.3(ENG):c.593C>T (p.Pro198Leu) rs777633247
NM_000118.3(ENG):c.614G>A (p.Arg205Gln) rs751778614
NM_000118.3(ENG):c.617G>C (p.Gly206Ala) rs201393380
NM_000118.3(ENG):c.633C>T (p.Gly211=) rs928192105
NM_000118.3(ENG):c.634G>A (p.Val212Met) rs370652082
NM_000118.3(ENG):c.640G>A (p.Gly214Ser) rs150932144
NM_000118.3(ENG):c.673C>G (p.Pro225Ala) rs1554810373
NM_000118.3(ENG):c.675G>A (p.Pro225=) rs757608428
NM_000118.3(ENG):c.68-4A>G rs1564462843
NM_000118.3(ENG):c.680A>G (p.His227Arg) rs377548944
NM_000118.3(ENG):c.686C>A (p.Ala229Asp) rs971190119
NM_000118.3(ENG):c.694C>T (p.Arg232Trp) rs200372420
NM_000118.3(ENG):c.698C>T (p.Thr233Met) rs139767471
NM_000118.3(ENG):c.713T>A (p.Val238Glu) rs1060501415
NM_000118.3(ENG):c.722G>A (p.Ser241Asn) rs1060501411
NM_000118.3(ENG):c.727G>A (p.Ala243Thr) rs761827492
NM_000118.3(ENG):c.733G>A (p.Gly245Arg) rs762569294
NM_000118.3(ENG):c.742G>A (p.Asp248Asn) rs775160533
NM_000118.3(ENG):c.754A>T (p.Ile252Phe) rs377377549
NM_000118.3(ENG):c.782G>T (p.Trp261Leu) rs1060501420
NM_000118.3(ENG):c.799_804del (p.His267_Asn268del) rs1588581812
NM_000118.3(ENG):c.7C>G (p.Arg3Gly) rs139334561
NM_000118.3(ENG):c.7C>T (p.Arg3Cys) rs139334561
NM_000118.3(ENG):c.805A>G (p.Met269Val) rs1323617205
NM_000118.3(ENG):c.806T>C (p.Met269Thr) rs752331196
NM_000118.3(ENG):c.839A>G (p.Lys280Arg) rs774709924
NM_000118.3(ENG):c.850G>A (p.Glu284Lys) rs372045549
NM_000118.3(ENG):c.863G>A (p.Arg288His) rs770328302
NM_000118.3(ENG):c.884C>T (p.Thr295Ile) rs12042
NM_000118.3(ENG):c.88T>A (p.Cys30Ser) rs1564462834
NM_000118.3(ENG):c.900G>A (p.Leu300=) rs140155568
NM_000118.3(ENG):c.911G>A (p.Arg304Gln) rs753429934
NM_000118.3(ENG):c.990C>T (p.Cys330=) rs369202854
NM_001077401.2(ACVRL1):c.1177_1179delinsCAA (p.Tyr393Gln) rs1565595070
NM_001114753.3(ENG):c.*109C>T
NM_001114753.3(ENG):c.*391G>A
NM_001114753.3(ENG):c.*424G>C
NM_001114753.3(ENG):c.*438G>A
NM_001114753.3(ENG):c.*4C>T
NM_001114753.3(ENG):c.*530T>A
NM_001114753.3(ENG):c.*533G>A
NM_001114753.3(ENG):c.*534C>T
NM_001114753.3(ENG):c.*586C>T
NM_001114753.3(ENG):c.-227C>G
NM_001114753.3(ENG):c.-23G>A
NM_001114753.3(ENG):c.-249C>A
NM_001114753.3(ENG):c.-59C>T
NM_001114753.3(ENG):c.-90G>C
NM_001114753.3(ENG):c.1026G>T (p.Gln342His)
NM_001114753.3(ENG):c.1027A>G (p.Thr343Ala)
NM_001114753.3(ENG):c.1029_1030delinsTC (p.Thr344Pro)
NM_001114753.3(ENG):c.1063C>T (p.Leu355Phe)
NM_001114753.3(ENG):c.1067T>C (p.Met356Thr)
NM_001114753.3(ENG):c.1093G>A (p.Asp365Asn)
NM_001114753.3(ENG):c.1109T>A (p.Leu370Gln)
NM_001114753.3(ENG):c.1110_1115dup (p.Val371_Leu372dup)
NM_001114753.3(ENG):c.1135C>A (p.His379Asn)
NM_001114753.3(ENG):c.1153A>C (p.Thr385Pro)
NM_001114753.3(ENG):c.116G>A (p.Arg39Lys)
NM_001114753.3(ENG):c.1171G>C (p.Asp391His)
NM_001114753.3(ENG):c.1177A>G (p.Ser393Gly)
NM_001114753.3(ENG):c.1181G>A (p.Cys394Tyr)
NM_001114753.3(ENG):c.118G>T (p.Gly40Cys)
NM_001114753.3(ENG):c.1195A>G (p.Arg399Gly)
NM_001114753.3(ENG):c.1197G>C (p.Arg399Ser)
NM_001114753.3(ENG):c.1208T>C (p.Phe403Ser)
NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly)
NM_001114753.3(ENG):c.1234T>G (p.Cys412Gly)
NM_001114753.3(ENG):c.1241T>C (p.Met414Thr)
NM_001114753.3(ENG):c.1258A>G (p.Met420Val)
NM_001114753.3(ENG):c.1273-4_1273-3delinsAA
NM_001114753.3(ENG):c.1276G>A (p.Val426Met)
NM_001114753.3(ENG):c.1282A>C (p.Asn428His) rs875989811
NM_001114753.3(ENG):c.1295G>A (p.Ser432Asn)
NM_001114753.3(ENG):c.1295G>C (p.Ser432Thr)
NM_001114753.3(ENG):c.1336G>A (p.Asp446Asn)
NM_001114753.3(ENG):c.1357G>C (p.Gly453Arg)
NM_001114753.3(ENG):c.1385A>G (p.Gln462Arg)
NM_001114753.3(ENG):c.1390T>A (p.Ser464Thr)
NM_001114753.3(ENG):c.1393A>G (p.Asn465Asp)
NM_001114753.3(ENG):c.1427A>G (p.Gln476Arg)
NM_001114753.3(ENG):c.1429-8C>G
NM_001114753.3(ENG):c.149C>T (p.Ser50Leu)
NM_001114753.3(ENG):c.1511T>A (p.Val504Glu)
NM_001114753.3(ENG):c.1534G>A (p.Ala512Thr)
NM_001114753.3(ENG):c.1538A>G (p.Lys513Arg)
NM_001114753.3(ENG):c.1565C>T (p.Pro522Leu)
NM_001114753.3(ENG):c.160G>A (p.Val54Met)
NM_001114753.3(ENG):c.1614A>G (p.Thr538=)
NM_001114753.3(ENG):c.1637C>T (p.Thr546Ile)
NM_001114753.3(ENG):c.1695T>A (p.His565Gln)
NM_001114753.3(ENG):c.1710G>T (p.Met570Ile)
NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys) rs764262721
NM_001114753.3(ENG):c.1721TCA[1] (p.Ile575del) rs777038953
NM_001114753.3(ENG):c.1724T>C (p.Ile575Thr)
NM_001114753.3(ENG):c.1725C>G (p.Ile575Met)
NM_001114753.3(ENG):c.1730C>G (p.Pro577Arg)
NM_001114753.3(ENG):c.1744T>G (p.Cys582Gly)
NM_001114753.3(ENG):c.1759C>T (p.Leu587Phe)
NM_001114753.3(ENG):c.1771G>A (p.Ala591Thr)
NM_001114753.3(ENG):c.1774G>A (p.Val592Met)
NM_001114753.3(ENG):c.1786A>G (p.Thr596Ala)
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg)
NM_001114753.3(ENG):c.1852+42C>T
NM_001114753.3(ENG):c.1852+51C>G
NM_001114753.3(ENG):c.1853-18C>T
NM_001114753.3(ENG):c.1853-9C>T
NM_001114753.3(ENG):c.194A>G (p.His65Arg)
NM_001114753.3(ENG):c.214C>T (p.Pro72Ser)
NM_001114753.3(ENG):c.219+22C>T rs370257876
NM_001114753.3(ENG):c.219+5G>T
NM_001114753.3(ENG):c.219G>T (p.Thr73=)
NM_001114753.3(ENG):c.223C>T (p.Pro75Ser)
NM_001114753.3(ENG):c.239T>C (p.Leu80Pro)
NM_001114753.3(ENG):c.242C>A (p.Thr81Asn)
NM_001114753.3(ENG):c.278G>A (p.Arg93Gln)
NM_001114753.3(ENG):c.293T>A (p.Val98Asp)
NM_001114753.3(ENG):c.320_328del (p.Leu107_Leu109del)
NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr) rs1060501425
NM_001114753.3(ENG):c.332C>T (p.Ala111Val)
NM_001114753.3(ENG):c.343C>T (p.Pro115Ser)
NM_001114753.3(ENG):c.354G>A (p.Leu118=)
NM_001114753.3(ENG):c.35T>C (p.Leu12Pro)
NM_001114753.3(ENG):c.373G>C (p.Val125Leu)
NM_001114753.3(ENG):c.374T>C (p.Val125Ala) rs750115837
NM_001114753.3(ENG):c.413T>C (p.Leu138Pro)
NM_001114753.3(ENG):c.442G>C (p.Glu148Gln)
NM_001114753.3(ENG):c.470C>T (p.Thr157Ile)
NM_001114753.3(ENG):c.497A>C (p.Gln166Pro)
NM_001114753.3(ENG):c.530G>A (p.Gly177Glu)
NM_001114753.3(ENG):c.547A>G (p.Met183Val)
NM_001114753.3(ENG):c.556G>A (p.Ala186Thr)
NM_001114753.3(ENG):c.565G>A (p.Asp189Asn)
NM_001114753.3(ENG):c.569T>A (p.Met190Lys)
NM_001114753.3(ENG):c.586T>A (p.Trp196Arg)
NM_001114753.3(ENG):c.590G>A (p.Arg197Gln)
NM_001114753.3(ENG):c.596G>A (p.Arg199His) rs548424658
NM_001114753.3(ENG):c.613C>T (p.Arg205Trp)
NM_001114753.3(ENG):c.627G>C (p.Leu209Phe)
NM_001114753.3(ENG):c.653C>T (p.Ala218Val)
NM_001114753.3(ENG):c.668_685del (p.Val223_Ser228del)
NM_001114753.3(ENG):c.674C>T (p.Pro225Leu)
NM_001114753.3(ENG):c.682T>A (p.Ser228Thr)
NM_001114753.3(ENG):c.688G>A (p.Gly230Arg)
NM_001114753.3(ENG):c.68G>C (p.Ser23Thr)
NM_001114753.3(ENG):c.695G>A (p.Arg232Gln)
NM_001114753.3(ENG):c.695G>T (p.Arg232Leu)
NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1]) rs1588582060
NM_001114753.3(ENG):c.704C>A (p.Thr235Lys)
NM_001114753.3(ENG):c.704C>T (p.Thr235Met)
NM_001114753.3(ENG):c.707T>A (p.Val236Glu)
NM_001114753.3(ENG):c.748G>A (p.Val250Ile)
NM_001114753.3(ENG):c.755T>C (p.Ile252Thr)
NM_001114753.3(ENG):c.766C>T (p.Pro256Ser)
NM_001114753.3(ENG):c.776T>G (p.Val259Gly)
NM_001114753.3(ENG):c.818C>T (p.Thr273Ile) rs727503038
NM_001114753.3(ENG):c.820A>G (p.Thr274Ala)
NM_001114753.3(ENG):c.821C>T (p.Thr274Ile)
NM_001114753.3(ENG):c.829T>C (p.Tyr277His)
NM_001114753.3(ENG):c.841A>G (p.Ile281Val)
NM_001114753.3(ENG):c.866G>A (p.Gly289Asp)
NM_001114753.3(ENG):c.889C>G (p.Gln297Glu)
NM_001114753.3(ENG):c.901G>C (p.Gly301Arg)
NM_001114753.3(ENG):c.910C>T (p.Arg304Trp)
NM_001114753.3(ENG):c.91G>A (p.Asp31Asn)
NM_001114753.3(ENG):c.923_925dup (p.Ser309_Ile310insThr)
NM_001114753.3(ENG):c.951_956del (p.Pro318_Leu319del)
NM_001114753.3(ENG):c.953C>G (p.Pro318Arg)
NM_001114753.3(ENG):c.970T>C (p.Ser324Pro)
NM_001114753.3(ENG):c.992-3C>T
NM_001114753.3(ENG):c.9C>T (p.Arg3=)
NM_002890.3(RASA1):c.*1000_*1004GTTAA[1] rs886060850
NM_002890.3(RASA1):c.*267C>G
NM_002890.3(RASA1):c.*271A>C
NM_002890.3(RASA1):c.*298T>C rs886060846
NM_002890.3(RASA1):c.*424G>A rs191725379
NM_002890.3(RASA1):c.*448T>G rs886060847
NM_002890.3(RASA1):c.*476T>G rs543819845
NM_002890.3(RASA1):c.*572C>A rs886060848
NM_002890.3(RASA1):c.*577T>C
NM_002890.3(RASA1):c.*606G>A
NM_002890.3(RASA1):c.*748A>T
NM_002890.3(RASA1):c.*840_*842ATT[1] rs201705926
NM_002890.3(RASA1):c.*852A>G rs182603054
NM_002890.3(RASA1):c.*96C>G
NM_002890.3(RASA1):c.*9G>A rs886060845
NM_002890.3(RASA1):c.-179A>C rs886060838
NM_002890.3(RASA1):c.1017delinsTTAC (p.Gly340_Arg341insTyr)
NM_002890.3(RASA1):c.1022G>A (p.Arg341Gln)
NM_002890.3(RASA1):c.1049+5G>T rs1580307103
NM_002890.3(RASA1):c.1055T>C (p.Phe352Ser)
NM_002890.3(RASA1):c.1076A>T (p.Gln359Leu)
NM_002890.3(RASA1):c.110A>G (p.Lys37Arg)
NM_002890.3(RASA1):c.1115G>C (p.Cys372Ser)
NM_002890.3(RASA1):c.1141A>G (p.Asn381Asp) rs1060503437
NM_002890.3(RASA1):c.115C>G (p.Pro39Ala)
NM_002890.3(RASA1):c.1172G>A (p.Arg391Gln)
NM_002890.3(RASA1):c.1218C>A (p.Asn406Lys)
NM_002890.3(RASA1):c.1254-4A>T rs369061989
NM_002890.3(RASA1):c.1280G>A (p.Arg427Gln) rs755634472
NM_002890.3(RASA1):c.1290G>A (p.Gln430=) rs765869491
NM_002890.3(RASA1):c.1298A>C (p.Glu433Ala)
NM_002890.3(RASA1):c.1300G>A (p.Gly434Arg)
NM_002890.3(RASA1):c.1324C>T (p.Pro442Ser) rs532587037
NM_002890.3(RASA1):c.1352A>G (p.Asn451Ser) rs529871259
NM_002890.3(RASA1):c.1368C>T (p.Gly456=) rs774547215
NM_002890.3(RASA1):c.1390C>T (p.Arg464Cys)
NM_002890.3(RASA1):c.1409C>G (p.Ala470Gly) rs199894378
NM_002890.3(RASA1):c.143C>A (p.Pro48His) rs1580178676
NM_002890.3(RASA1):c.143C>G (p.Pro48Arg)
NM_002890.3(RASA1):c.146A>G (p.Tyr49Cys) rs1580178685
NM_002890.3(RASA1):c.1535G>A (p.Arg512Gln)
NM_002890.3(RASA1):c.1567A>G (p.Ser523Gly)
NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys) rs145752649
NM_002890.3(RASA1):c.1611-15G>A
NM_002890.3(RASA1):c.1627A>G (p.Ile543Val)
NM_002890.3(RASA1):c.1651G>A (p.Glu551Lys) rs878854568
NM_002890.3(RASA1):c.1760A>G (p.Asn587Ser) rs894219060
NM_002890.3(RASA1):c.1772G>A (p.Arg591His)
NM_002890.3(RASA1):c.1777-3T>A rs1580380301
NM_002890.3(RASA1):c.1780A>G (p.Ser594Gly)
NM_002890.3(RASA1):c.1796A>C (p.His599Pro)
NM_002890.3(RASA1):c.17C>T (p.Ala6Val) rs1010729751
NM_002890.3(RASA1):c.1859T>C (p.Leu620Pro) rs1554049169
NM_002890.3(RASA1):c.187G>A (p.Gly63Ser)
NM_002890.3(RASA1):c.1888G>C (p.Ala630Pro) rs1580380538
NM_002890.3(RASA1):c.188G>T (p.Gly63Val) rs754945616
NM_002890.3(RASA1):c.190G>A (p.Gly64Arg) rs777805156
NM_002890.3(RASA1):c.1914G>T (p.Trp638Cys)
NM_002890.3(RASA1):c.1935-3T>C rs201249348
NM_002890.3(RASA1):c.1943C>T (p.Pro648Leu)
NM_002890.3(RASA1):c.1970C>T (p.Thr657Ile)
NM_002890.3(RASA1):c.2011+4A>C rs886060840
NM_002890.3(RASA1):c.2011+6T>A rs1554049237
NM_002890.3(RASA1):c.2020C>T (p.Arg674Cys) rs370631681
NM_002890.3(RASA1):c.202G>A (p.Gly68Arg) rs1580178771
NM_002890.3(RASA1):c.2049G>C (p.Gly683=) rs886060841
NM_002890.3(RASA1):c.2089C>G (p.Pro697Ala)
NM_002890.3(RASA1):c.2134T>C (p.Tyr712His)
NM_002890.3(RASA1):c.2138C>G (p.Ser713Cys)
NM_002890.3(RASA1):c.2139T>C (p.Ser713=)
NM_002890.3(RASA1):c.2171G>A (p.Ser724Asn)
NM_002890.3(RASA1):c.2189T>C (p.Ile730Thr)
NM_002890.3(RASA1):c.2239C>A (p.Gln747Lys) rs1561322754
NM_002890.3(RASA1):c.2300C>T (p.Ser767Leu) rs763915835
NM_002890.3(RASA1):c.2366G>A (p.Arg789Gln)
NM_002890.3(RASA1):c.239C>T (p.Ala80Val)
NM_002890.3(RASA1):c.241C>G (p.Leu81Val)
NM_002890.3(RASA1):c.2449T>C (p.Ser817Pro)
NM_002890.3(RASA1):c.244G>A (p.Gly82Arg)
NM_002890.3(RASA1):c.244G>T (p.Gly82Trp)
NM_002890.3(RASA1):c.2461A>G (p.Ile821Val) rs1554049698
NM_002890.3(RASA1):c.2487+11A>C rs886060842
NM_002890.3(RASA1):c.248G>A (p.Gly83Glu) rs755788420
NM_002890.3(RASA1):c.248G>T (p.Gly83Val)
NM_002890.3(RASA1):c.253G>A (p.Gly85Arg)
NM_002890.3(RASA1):c.2574A>T (p.Lys858Asn)
NM_002890.3(RASA1):c.2582T>C (p.Met861Thr)
NM_002890.3(RASA1):c.2603+2dup rs1580394003
NM_002890.3(RASA1):c.2603C>T (p.Pro868Leu) rs138785106
NM_002890.3(RASA1):c.2608T>C (p.Leu870=) rs372498033
NM_002890.3(RASA1):c.2638T>A (p.Ser880Thr) rs878854571
NM_002890.3(RASA1):c.2648A>G (p.His883Arg)
NM_002890.3(RASA1):c.2666C>A (p.Thr889Asn)
NM_002890.3(RASA1):c.2725A>G (p.Ile909Val) rs113316011
NM_002890.3(RASA1):c.2739G>T (p.Arg913=) rs375135791
NM_002890.3(RASA1):c.2747A>G (p.Asn916Ser) rs765747521
NM_002890.3(RASA1):c.2773A>G (p.Ile925Val) rs140786299
NM_002890.3(RASA1):c.2795T>C (p.Leu932Ser) rs1554050426
NM_002890.3(RASA1):c.27G>T (p.Glu9Asp)
NM_002890.3(RASA1):c.2926-14C>T rs886060843
NM_002890.3(RASA1):c.2942C>T (p.Pro981Leu) rs772714180
NM_002890.3(RASA1):c.2943G>A (p.Pro981=)
NM_002890.3(RASA1):c.3029G>A (p.Arg1010Gln) rs886060844
NM_002890.3(RASA1):c.303_326del (p.Val102_Gly109del)
NM_002890.3(RASA1):c.3060+1G>T rs1580418269
NM_002890.3(RASA1):c.3085A>G (p.Ile1029Val) rs377550978
NM_002890.3(RASA1):c.319G>C (p.Val107Leu) rs138308013
NM_002890.3(RASA1):c.338A>T (p.Asp113Val)
NM_002890.3(RASA1):c.346C>G (p.Leu116Val)
NM_002890.3(RASA1):c.34G>A (p.Gly12Ser)
NM_002890.3(RASA1):c.351C>T (p.Thr117=) rs763970609
NM_002890.3(RASA1):c.358C>T (p.Pro120Ser)
NM_002890.3(RASA1):c.370C>T (p.Leu124Phe) rs200883284
NM_002890.3(RASA1):c.395_396delinsTT (p.Gly132Val) rs1554038863
NM_002890.3(RASA1):c.402T>C (p.Phe134=)
NM_002890.3(RASA1):c.407C>G (p.Pro136Arg)
NM_002890.3(RASA1):c.412C>T (p.Pro138Ser) rs775315018
NM_002890.3(RASA1):c.418C>A (p.Pro140Thr)
NM_002890.3(RASA1):c.431C>T (p.Pro144Leu)
NM_002890.3(RASA1):c.442G>T (p.Ala148Ser) rs765405975
NM_002890.3(RASA1):c.448C>T (p.Leu150Phe)
NM_002890.3(RASA1):c.44C>T (p.Thr15Ile)
NM_002890.3(RASA1):c.453G>T (p.Gly151=)
NM_002890.3(RASA1):c.467G>T (p.Gly156Val) rs373892264
NM_002890.3(RASA1):c.473C>G (p.Ser158Cys)
NM_002890.3(RASA1):c.508G>A (p.Ala170Thr) rs761820082
NM_002890.3(RASA1):c.539+3A>G rs1561245221
NM_002890.3(RASA1):c.566C>T (p.Thr189Met)
NM_002890.3(RASA1):c.567G>A (p.Thr189=)
NM_002890.3(RASA1):c.602C>T (p.Ser201Phe)
NM_002890.3(RASA1):c.64G>T (p.Gly22Cys) rs371413736
NM_002890.3(RASA1):c.656C>T (p.Ser219Leu)
NM_002890.3(RASA1):c.693-5A>G
NM_002890.3(RASA1):c.703A>G (p.Met235Val)
NM_002890.3(RASA1):c.75G>A (p.Ala25=)
NM_002890.3(RASA1):c.79T>C (p.Ser27Pro)
NM_002890.3(RASA1):c.848G>A (p.Arg283His)
NM_002890.3(RASA1):c.854G>A (p.Arg285Gln)
NM_002890.3(RASA1):c.899+8A>G rs781285667
NM_002890.3(RASA1):c.917T>C (p.Met306Thr) rs757272694
NM_002890.3(RASA1):c.92C>G (p.Pro31Arg)
NM_004444.5(EPHB4):c.1406T>G (p.Val469Gly) rs1584662591
NM_004444.5(EPHB4):c.1546G>A (p.Gly516Arg) rs776305185
NM_004444.5(EPHB4):c.175G>A (p.Glu59Lys) rs1584667224
NM_004444.5(EPHB4):c.1966C>T (p.Arg656Trp) rs745584371
NM_004444.5(EPHB4):c.2173G>A (p.Ala725Thr) rs1159930961
NM_004444.5(EPHB4):c.221G>C (p.Arg74Pro) rs61735971
NM_004444.5(EPHB4):c.2365C>T (p.Pro789Ser) rs1417508111
NM_004444.5(EPHB4):c.2366C>G (p.Pro789Arg) rs753075600
NM_004444.5(EPHB4):c.2419G>A (p.Gly807Arg) rs1330628156
NM_004444.5(EPHB4):c.2458C>A (p.Pro820Thr) rs1584653653
NM_004444.5(EPHB4):c.2459C>T (p.Pro820Leu) rs1584653650
NM_004444.5(EPHB4):c.2609T>A (p.Val870Glu) rs1584652920
NM_004444.5(EPHB4):c.2621T>C (p.Leu874Pro) rs1584652900
NM_004444.5(EPHB4):c.319T>C (p.Cys107Arg) rs1562974383
NM_004444.5(EPHB4):c.560T>C (p.Leu187Pro) rs1584666053
NM_004444.5(EPHB4):c.802T>C (p.Cys268Arg) rs201816920
NM_005359.5(SMAD4):c.*5543_*5546dupGCGC rs68159021
NM_005359.5(SMAD4):c.*5545_*5546delGC rs68159021
NM_005359.5(SMAD4):c.*5564_*5577dupCACACACACACACA rs56017493
NM_005359.5(SMAD4):c.*5570_*5577dupCACACACA rs56017493
NM_005359.5(SMAD4):c.*5572_*5577delCACACA rs56017493
NM_005359.5(SMAD4):c.*5574_*5577delCACA rs56017493
NM_005359.5(SMAD4):c.*5576_*5577delCA rs56017493
NM_005359.5(SMAD4):c.*5576_*5577dupCA rs56017493
NM_005359.5(SMAD4):c.*6162_*6165delGATT rs886053936
NM_005359.5(SMAD4):c.-503_-501delACA rs886053885
NM_005359.6(SMAD4):c.*1512dup rs755827115
NM_005359.6(SMAD4):c.*1564_*1567del rs886053903
NM_005359.6(SMAD4):c.*2630A>G rs768569083
NM_005359.6(SMAD4):c.*2707_*2711del rs769541605
NM_005359.6(SMAD4):c.*3843G>A rs886053915
NM_005359.6(SMAD4):c.*4991dup rs886053919
NM_005359.6(SMAD4):c.*5004_*5005dup rs113155703
NM_005359.6(SMAD4):c.*5535_*5540del rs147193925
NM_005359.6(SMAD4):c.*5535_*5545delinsGCGCACA rs886053923
NM_005359.6(SMAD4):c.*5535_*5547delinsGCG rs886053924
NM_005359.6(SMAD4):c.*5535_*5549delinsG rs886053925
NM_005359.6(SMAD4):c.*5546_*5547insGCAC rs1555688055
NM_005359.6(SMAD4):c.*5546_*5547insGCACAC rs1555688055
NM_005359.6(SMAD4):c.*5546_*5547insGCACACAC rs1555688055
NM_005359.6(SMAD4):c.*5546_*5547insGCACACACAC rs1555688055
NM_005359.6(SMAD4):c.*5576C>G rs886053930
NM_005359.6(SMAD4):c.*5757dup rs886053931
NM_016204.4(GDF2):c.1023G>C (p.Trp341Cys) rs1555209063
NM_016204.4(GDF2):c.1040C>T (p.Ala347Val) rs782452633
NM_016204.4(GDF2):c.1063G>A (p.Glu355Lys) rs1200646207
NM_016204.4(GDF2):c.1075G>A (p.Gly359Ser)
NM_016204.4(GDF2):c.1207G>A (p.Val403Ile)
NM_016204.4(GDF2):c.1255G>A (p.Glu419Lys) rs782137039
NM_016204.4(GDF2):c.1267G>A (p.Val423Met) rs1358534877
NM_016204.4(GDF2):c.203G>A (p.Arg68His) rs200330818
NM_016204.4(GDF2):c.221G>A (p.Gly74Glu)
NM_016204.4(GDF2):c.252G>A (p.Glu84=)
NM_016204.4(GDF2):c.286T>C (p.Tyr96His) rs142466901
NM_016204.4(GDF2):c.314C>T (p.Ala105Val)
NM_016204.4(GDF2):c.348T>C (p.Asp116=)
NM_016204.4(GDF2):c.619G>T (p.Val207Leu) rs148262680
NM_016204.4(GDF2):c.637C>T (p.Arg213Cys) rs1555208917
NM_016204.4(GDF2):c.646C>T (p.Arg216Trp)
NM_016204.4(GDF2):c.64G>A (p.Gly22Arg) rs1555208692
NM_016204.4(GDF2):c.716C>T (p.Thr239Met) rs782560993
NM_016204.4(GDF2):c.740G>T (p.Gly247Val) rs369219783
NM_016204.4(GDF2):c.76C>T (p.Gln26Ter) rs1555208696
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser) rs140271276
NM_016204.4(GDF2):c.847G>A (p.Val283Met) rs138904328
NM_016204.4(GDF2):c.871G>A (p.Gly291Ser) rs201711410
NM_016204.4(GDF2):c.89G>A (p.Arg30Gln)
NM_016204.4(GDF2):c.89G>C (p.Arg30Pro) rs368827442
NM_016204.4(GDF2):c.917G>A (p.Gly306Asp)
NM_016204.4(GDF2):c.930G>A (p.Ala310=)
NM_016204.4(GDF2):c.949C>T (p.Arg317Trp) rs559992144
NM_016204.4(GDF2):c.964G>A (p.Gly322Arg) rs782796080

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.