ClinVar Miner

List of variants in gene ACVRL1 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 97
Download table as spreadsheet
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.-202C>G rs573855752
NM_000020.2(ACVRL1):c.-4G>T rs753902476
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)
NM_000020.2(ACVRL1):c.1027_1047del (p.Gln343_Leu349del)
NM_000020.2(ACVRL1):c.1028A>C (p.Gln343Pro)
NM_000020.2(ACVRL1):c.1033T>C (p.Cys345Arg) rs1060503239
NM_000020.2(ACVRL1):c.1034G>A (p.Cys345Tyr)
NM_000020.2(ACVRL1):c.1046T>C (p.Leu349Pro)
NM_000020.2(ACVRL1):c.1046T>G (p.Leu349Arg) rs765895870
NM_000020.2(ACVRL1):c.1093G>A (p.Gly365Ser)
NM_000020.2(ACVRL1):c.1103C>T (p.Pro368Leu) rs748123979
NM_000020.2(ACVRL1):c.1118A>G (p.Lys373Arg) rs1324917279
NM_000020.2(ACVRL1):c.1121G>C (p.Arg374Pro) rs1060503248
NM_000020.2(ACVRL1):c.1177_1179delinsCAA (p.Tyr393Gln) rs1565595070
NM_000020.2(ACVRL1):c.1188_1189delinsAA (p.Asp397Asn)
NM_000020.2(ACVRL1):c.1190A>T (p.Asp397Val)
NM_000020.2(ACVRL1):c.1219G>A (p.Glu407Lys) rs1057521203
NM_000020.2(ACVRL1):c.1228C>T (p.Arg410Cys) rs781770577
NM_000020.2(ACVRL1):c.1276T>A (p.Tyr426Asn) rs1565596460
NM_000020.2(ACVRL1):c.1310A>G (p.Asp437Gly) rs1060503238
NM_000020.2(ACVRL1):c.1313T>C (p.Met438Thr) rs1555153828
NM_000020.2(ACVRL1):c.1324G>A (p.Val442Met) rs1085307421
NM_000020.2(ACVRL1):c.1348A>G (p.Thr450Ala) rs146206499
NM_000020.2(ACVRL1):c.137G>C (p.Cys46Ser) rs1555152454
NM_000020.2(ACVRL1):c.140G>C (p.Arg47Pro) rs774389618
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)
NM_000020.2(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865
NM_000020.2(ACVRL1):c.1448T>G (p.Leu483Arg) rs1565597471
NM_000020.2(ACVRL1):c.1466T>C (p.Leu489Pro) rs1057523573
NM_000020.2(ACVRL1):c.1478del (p.Ser493fs) rs1060499838
NM_000020.2(ACVRL1):c.148T>C (p.Trp50Arg) rs1555152468
NM_000020.2(ACVRL1):c.1507C>T (p.Gln503Ter) rs1565597552
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.238C>T (p.Arg80Cys) rs756447582
NM_000020.2(ACVRL1):c.262T>G (p.Tyr88Asp) rs1555152518
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)
NM_000020.2(ACVRL1):c.293A>G (p.Asn98Ser) rs1085307406
NM_000020.2(ACVRL1):c.303G>A (p.Leu101=)
NM_000020.2(ACVRL1):c.304G>C (p.Val102Leu) rs1555152538
NM_000020.2(ACVRL1):c.313+7C>T rs374171506
NM_000020.2(ACVRL1):c.368T>C (p.Leu123Pro) rs762756031
NM_000020.2(ACVRL1):c.376G>A (p.Val126Met) rs369146413
NM_000020.2(ACVRL1):c.429C>T (p.Val143=) rs762047618
NM_000020.2(ACVRL1):c.465C>T (p.Ser155=)
NM_000020.2(ACVRL1):c.470T>C (p.Leu157Pro) rs1371249289
NM_000020.2(ACVRL1):c.484C>T (p.Leu162Phe) rs76038779
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.599G>A (p.Arg200Gln) rs1018788708
NM_000020.2(ACVRL1):c.611_613TGG[1] (p.Val205del) rs1060503250
NM_000020.2(ACVRL1):c.653G>C (p.Arg218Pro) rs779287554
NM_000020.2(ACVRL1):c.655G>C (p.Gly219Arg)
NM_000020.2(ACVRL1):c.685A>G (p.Lys229Glu)
NM_000020.2(ACVRL1):c.706G>A (p.Glu236Lys)
NM_000020.2(ACVRL1):c.713C>T (p.Ser238Phe) rs761033311
NM_000020.2(ACVRL1):c.772G>A (p.Gly258Ser) rs1555152966
NM_000020.2(ACVRL1):c.773-7_773-6delCAinsTC rs1555153071
NM_000020.2(ACVRL1):c.822G>T (p.Trp274Cys) rs757645341
NM_000020.2(ACVRL1):c.851C>T (p.Ser284Phe) rs768643771
NM_000020.2(ACVRL1):c.890A>G (p.His297Arg) rs139380315
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)
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

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.