ClinVar Miner

List of variants in gene ACVRL1 studied for Hereditary hemorrhagic telangiectasia type 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 162
Download table as spreadsheet
HGVS dbSNP
NC_000012.11:g.(?_52306239)_(52314697_?)del
NC_000012.11:g.(?_52306249)_(52314687_?)del
NC_000012.11:g.(?_52306863)_(52307574_?)del
NC_000012.11:g.(?_52307323)_(52312919_?)del
NC_000012.11:g.(?_52307738)_(52312919_?)del
NC_000012.11:g.(?_52314475)_(52314687_?)del
NC_000012.11:g.(?_52314523)_(52314697_?)del
NC_000012.11:g.(?_52314543)_(52317145_?)del
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.1030T>C (p.Cys344Arg)
NM_000020.2(ACVRL1):c.1031G>A (p.Cys344Tyr) rs28936688
NM_000020.2(ACVRL1):c.1031G>T (p.Cys344Phe)
NM_000020.2(ACVRL1):c.1033T>C (p.Cys345Arg) rs1060503239
NM_000020.2(ACVRL1):c.1034G>A (p.Cys345Tyr)
NM_000020.2(ACVRL1):c.1036_1040del (p.Ile346fs) rs1565594524
NM_000020.2(ACVRL1):c.1042del (p.Asp348fs) rs1565594536
NM_000020.2(ACVRL1):c.1046T>C (p.Leu349Pro)
NM_000020.2(ACVRL1):c.1048G>C (p.Gly350Arg) rs1565594547
NM_000020.2(ACVRL1):c.1049-1G>A rs1060503242
NM_000020.2(ACVRL1):c.1055C>A (p.Ala352Asp) rs1085307415
NM_000020.2(ACVRL1):c.105del (p.Cys36fs) rs1555152447
NM_000020.2(ACVRL1):c.1093G>A (p.Gly365Ser)
NM_000020.2(ACVRL1):c.1113_1114insG rs387906394
NM_000020.2(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.2(ACVRL1):c.1121G>A (p.Arg374Gln) rs1060503248
NM_000020.2(ACVRL1):c.1121G>C (p.Arg374Pro) rs1060503248
NM_000020.2(ACVRL1):c.1122G>T (p.Arg374=) rs187902433
NM_000020.2(ACVRL1):c.1124A>G (p.Tyr375Cys) rs1085307416
NM_000020.2(ACVRL1):c.1126A>G (p.Met376Val) rs1555153277
NM_000020.2(ACVRL1):c.1127T>G (p.Met376Arg) rs28936399
NM_000020.2(ACVRL1):c.1129G>A (p.Ala377Thr) rs1565594969
NM_000020.2(ACVRL1):c.1131A>G (p.Ala377=) rs61734313
NM_000020.2(ACVRL1):c.1134C>T (p.Pro378=) rs147021958
NM_000020.2(ACVRL1):c.1135G>A (p.Glu379Lys) rs1131691686
NM_000020.2(ACVRL1):c.1147G>T (p.Glu383Ter) rs148057374
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.1193T>A (p.Ile398Asn) rs121909286
NM_000020.2(ACVRL1):c.1217G>A (p.Trp406Ter) rs1060503235
NM_000020.2(ACVRL1):c.1220A>G (p.Glu407Gly) rs1565595121
NM_000020.2(ACVRL1):c.1221G>T (p.Glu407Asp) rs1565595129
NM_000020.2(ACVRL1):c.1228C>T (p.Arg410Cys) rs781770577
NM_000020.2(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.2(ACVRL1):c.1232G>C (p.Arg411Pro) rs121909284
NM_000020.2(ACVRL1):c.1246+19C>T rs185343653
NM_000020.2(ACVRL1):c.1246+1G>A rs1565595176
NM_000020.2(ACVRL1):c.1246+2T>C rs1555153382
NM_000020.2(ACVRL1):c.1246+9C>T rs115378744
NM_000020.2(ACVRL1):c.1250_1269del (p.Ile417fs) rs1555153796
NM_000020.2(ACVRL1):c.1270C>A (p.Pro424Thr) rs1085307419
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.1323_1324dup (p.Val442fs) rs1555153830
NM_000020.2(ACVRL1):c.1324G>A (p.Val442Met) rs1085307421
NM_000020.2(ACVRL1):c.1325_1326TG[5] (p.Asp445fs) rs1565596508
NM_000020.2(ACVRL1):c.1336C>T (p.Gln446Ter) rs1064794217
NM_000020.2(ACVRL1):c.1377+1G>A rs863223406
NM_000020.2(ACVRL1):c.1377+2T>G rs1555153854
NM_000020.2(ACVRL1):c.1378-1G>A rs1060503237
NM_000020.2(ACVRL1):c.1378-216C>G rs111710113
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.1413C>A (p.Cys471Ter) rs1301762186
NM_000020.2(ACVRL1):c.1416G>C (p.Trp472Cys) rs1060503243
NM_000020.2(ACVRL1):c.1416G>T (p.Trp472Cys)
NM_000020.2(ACVRL1):c.1428del (p.Ser477fs)
NM_000020.2(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.2(ACVRL1):c.1436G>A (p.Arg479Gln) rs1085307426
NM_000020.2(ACVRL1):c.143G>A (p.Gly48Glu) rs267606632
NM_000020.2(ACVRL1):c.143_147delinsAGCCT (p.Gly48_Ala49delinsGluPro) rs387906392
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.1450C>T (p.Arg484Trp) rs121909288
NM_000020.2(ACVRL1):c.145del (p.Ala49fs) rs863223415
NM_000020.2(ACVRL1):c.145dup (p.Ala49fs) rs863223415
NM_000020.2(ACVRL1):c.148T>C (p.Trp50Arg) rs1555152468
NM_000020.2(ACVRL1):c.150G>T (p.Trp50Cys) rs121909285
NM_000020.2(ACVRL1):c.183del (p.Arg61fs) rs1060503246
NM_000020.2(ACVRL1):c.190C>T (p.Gln64Ter)
NM_000020.2(ACVRL1):c.190del (p.Gln64fs) rs1060503241
NM_000020.2(ACVRL1):c.200G>A (p.Arg67Gln) rs863223414
NM_000020.2(ACVRL1):c.206G>T (p.Cys69Phe) rs1318118188
NM_000020.2(ACVRL1):c.207C>T (p.Cys69=) rs56080682
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.237dup (p.Arg80fs)
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.267C>G (p.Cys89Trp)
NM_000020.2(ACVRL1):c.269G>T (p.Cys90Phe)
NM_000020.2(ACVRL1):c.270C>A (p.Cys90Ter)
NM_000020.2(ACVRL1):c.293A>G (p.Asn98Ser) rs1085307406
NM_000020.2(ACVRL1):c.313+11C>T rs2071218
NM_000020.2(ACVRL1):c.313+1G>T rs1555152548
NM_000020.2(ACVRL1):c.313+40G>C rs376033978
NM_000020.2(ACVRL1):c.313+7C>T rs374171506
NM_000020.2(ACVRL1):c.329C>T (p.Ser110Leu) rs143872998
NM_000020.2(ACVRL1):c.330G>A (p.Ser110=) rs77341011
NM_000020.2(ACVRL1):c.368T>C (p.Leu123Pro) rs762756031
NM_000020.2(ACVRL1):c.406_409del (p.Gly136fs) rs863223416
NM_000020.2(ACVRL1):c.41dup (p.Met15fs) rs1060503236
NM_000020.2(ACVRL1):c.430C>T (p.Arg144Ter) rs758683062
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.526-1G>A rs1565593274
NM_000020.2(ACVRL1):c.526-7C>A rs772776468
NM_000020.2(ACVRL1):c.536A>C (p.Asp179Ala) rs753792569
NM_000020.2(ACVRL1):c.540_541insA (p.Asp181fs) rs1555152774
NM_000020.2(ACVRL1):c.542_545del (p.Asp181fs) rs1555152771
NM_000020.2(ACVRL1):c.557G>T (p.Ser186Ile) rs1288729113
NM_000020.2(ACVRL1):c.573del (p.Phe192fs) rs1555152786
NM_000020.2(ACVRL1):c.578T>C (p.Leu193Pro) rs1555152790
NM_000020.2(ACVRL1):c.58C>T (p.Gln20Ter) rs1555152345
NM_000020.2(ACVRL1):c.593T>C (p.Val198Ala) rs886043123
NM_000020.2(ACVRL1):c.601C>T (p.Gln201Ter) rs1318446539
NM_000020.2(ACVRL1):c.611_613TGG[1] (p.Val205del) rs1060503250
NM_000020.2(ACVRL1):c.619_620TG[2] (p.Val208fs) rs1060503240
NM_000020.2(ACVRL1):c.625+2T>C
NM_000020.2(ACVRL1):c.641del (p.Gly214fs) rs1555152909
NM_000020.2(ACVRL1):c.651G>A (p.Trp217Ter)
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.693_695CTC[1] (p.Ser233del) rs387906391
NM_000020.2(ACVRL1):c.706G>A (p.Glu236Lys)
NM_000020.2(ACVRL1):c.711_713delinsAG (p.Ser238fs) rs1555152935
NM_000020.2(ACVRL1):c.747G>A (p.Val249=) rs1058563
NM_000020.2(ACVRL1):c.760_762del (p.Asp254del) rs387906393
NM_000020.2(ACVRL1):c.772G>A (p.Gly258Ser) rs1555152966
NM_000020.2(ACVRL1):c.773-7_773-6delinsTC rs1555153071
NM_000020.2(ACVRL1):c.780C>T (p.Ile260=) rs911791104
NM_000020.2(ACVRL1):c.808_820dup (p.Trp274Ter) rs1555153077
NM_000020.2(ACVRL1):c.817C>T (p.Leu273=) rs55802125
NM_000020.2(ACVRL1):c.822G>A (p.Trp274Ter) rs757645341
NM_000020.2(ACVRL1):c.841G>T (p.Glu281Ter) rs779485996
NM_000020.2(ACVRL1):c.851C>T (p.Ser284Phe) rs768643771
NM_000020.2(ACVRL1):c.870_871GA[1] (p.Arg291fs)
NM_000020.2(ACVRL1):c.889del (p.His297fs) rs1060503245
NM_000020.2(ACVRL1):c.914C>T (p.Ser305Phe) rs1555153126
NM_000020.2(ACVRL1):c.916_917delinsAA (p.Ala306Lys) rs1060503244
NM_000020.2(ACVRL1):c.924C>A (p.Cys308Ter) rs1555153131
NM_000020.2(ACVRL1):c.925G>A (p.Gly309Ser) rs1555153133
NM_000020.2(ACVRL1):c.925G>C (p.Gly309Arg)
NM_000020.2(ACVRL1):c.940C>T (p.His314Tyr) rs1565594311
NM_000020.2(ACVRL1):c.955G>C (p.Gly319Arg) rs1085307414
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.986G>A (p.Arg329His) rs863223412
NM_000020.2(ACVRL1):c.992T>C (p.Phe331Ser) rs1166311240
NM_000020.2(ACVRL1):c.993C>T (p.Phe331=) rs56379428
NM_000020.2(ACVRL1):c.998G>T (p.Ser333Ile) rs863223413
NM_001077401.2(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284
NM_001077401.2(ACVRL1):c.1451G>A (p.Arg484Gln) rs863223408
NM_001077401.2(ACVRL1):c.145G>C (p.Ala49Pro) rs267606633
NM_001077401.2(ACVRL1):c.525+1del rs1060503249
NM_001077401.2(ACVRL1):c.625+1del rs1555152815
NM_001077401.2(ACVRL1):c.626-59del rs864622702

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.