ClinVar Miner

List of variants in gene ACVRL1 reported as pathogenic for capillary malformation

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 170
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HGVS dbSNP
NC_000012.11:g.(?_52297387_52306941del
NC_000012.11:g.(?_52306239)_(52314697_?)del
NC_000012.12:g.(?_51912465)_(51912545_?)del
NC_000012.12:g.(?_51912465)_(51920903_?)del
NC_000012.12:g.(?_51913079)_(51913790_?)del
NC_000012.12:g.(?_51913089)_(51916243_?)del
NC_000012.12:g.(?_51913539)_(51919135_?)del
NC_000012.12:g.(?_51913954)_(51919135_?)del
NC_000012.12:g.(?_51920691)_(51920903_?)del
NC_000012.12:g.(?_51920739)_(51920913_?)del
NC_000012.12:g.(?_51920759)_(51923361_?)del
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) rs765895870
NM_000020.2(ACVRL1):c.1048G>C (p.Gly350Arg) rs1565594547
NM_000020.2(ACVRL1):c.1055C>A (p.Ala352Asp) rs1085307415
NM_000020.2(ACVRL1):c.105del (p.Cys36fs) rs1555152447
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.1124A>G (p.Tyr375Cys) rs1085307416
NM_000020.2(ACVRL1):c.1127T>G (p.Met376Arg) rs28936399
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.1193T>A (p.Ile398Asn) rs121909286
NM_000020.2(ACVRL1):c.1195T>C (p.Trp399Arg) rs1085307418
NM_000020.2(ACVRL1):c.1196G>C (p.Trp399Ser) rs121909289
NM_000020.2(ACVRL1):c.1196G>T (p.Trp399Leu) rs121909289
NM_000020.2(ACVRL1):c.1217G>A (p.Trp406Ter) rs1060503235
NM_000020.2(ACVRL1):c.1221G>T (p.Glu407Asp) rs1565595129
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+1G>A rs1565595176
NM_000020.2(ACVRL1):c.1250_1269del (p.Ile417fs) rs1555153796
NM_000020.2(ACVRL1):c.1280A>T (p.Asp427Val) rs1085307420
NM_000020.2(ACVRL1):c.1321G>A (p.Val441Met) rs1565596498
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.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.1378-216C>G rs111710113
NM_000020.2(ACVRL1):c.1385C>G (p.Ser462Ter) rs1085307422
NM_000020.2(ACVRL1):c.1388del (p.Gly463fs) rs1085307423
NM_000020.2(ACVRL1):c.1390del (p.Gly463_Leu464insTer) rs1085307424
NM_000020.2(ACVRL1):c.1413C>A (p.Cys471Ter) rs1301762186
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.1436G>C (p.Arg479Pro) rs1085307426
NM_000020.2(ACVRL1):c.145del (p.Ala49fs) rs863223415
NM_000020.2(ACVRL1):c.145dup (p.Ala49fs) rs863223415
NM_000020.2(ACVRL1):c.1460A>C (p.Lys487Thr) rs1085307428
NM_000020.2(ACVRL1):c.1468C>T (p.Gln490Ter) rs1085307429
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) rs1592221728
NM_000020.2(ACVRL1):c.190del (p.Gln64fs) rs1060503241
NM_000020.2(ACVRL1):c.199C>T (p.Arg67Trp) rs1085307405
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.270C>A (p.Cys90Ter) rs556168617
NM_000020.2(ACVRL1):c.313+1G>T rs1555152548
NM_000020.2(ACVRL1):c.37del (p.Leu13fs) rs1085307404
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.525+1G>A rs1555152710
NM_000020.2(ACVRL1):c.526-1G>A rs1565593274
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.573del (p.Phe192fs) rs1555152786
NM_000020.2(ACVRL1):c.58C>T (p.Gln20Ter) rs1555152345
NM_000020.2(ACVRL1):c.593T>A (p.Val198Glu) rs886043123
NM_000020.2(ACVRL1):c.601C>T (p.Gln201Ter) rs1318446539
NM_000020.2(ACVRL1):c.602A>G (p.Gln201Arg) rs1085307407
NM_000020.2(ACVRL1):c.625+2T>C rs1592223028
NM_000020.2(ACVRL1):c.632G>A (p.Gly211Asp) rs28936687
NM_000020.2(ACVRL1):c.641del (p.Gly214fs) rs1555152909
NM_000020.2(ACVRL1):c.651G>A (p.Trp217Ter) rs1592223399
NM_000020.2(ACVRL1):c.706G>A (p.Glu236Lys) rs1592223490
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.788A>G (p.Asp263Gly) rs1085307408
NM_000020.2(ACVRL1):c.808_820dup (p.Trp274Ter) rs1555153077
NM_000020.2(ACVRL1):c.818T>C (p.Leu273Pro) rs1085307409
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.853C>T (p.Leu285Phe) rs1085307410
NM_000020.2(ACVRL1):c.889del (p.His297fs) rs1060503245
NM_000020.2(ACVRL1):c.914C>T (p.Ser305Phe) rs1555153126
NM_000020.2(ACVRL1):c.924C>A (p.Cys308Ter) rs1555153131
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.998G>T (p.Ser333Ile) rs863223413
NM_000020.3(ACVRL1):c.1010del (p.Leu337fs)
NM_000020.3(ACVRL1):c.1015A>T (p.Lys339Ter)
NM_000020.3(ACVRL1):c.102C>A (p.Cys34Ter)
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr) rs28936688
NM_000020.3(ACVRL1):c.1041del (p.Asp348fs)
NM_000020.3(ACVRL1):c.1043_1048+1dup
NM_000020.3(ACVRL1):c.1055del (p.Ala352fs)
NM_000020.3(ACVRL1):c.1069C>T (p.Gln357Ter)
NM_000020.3(ACVRL1):c.1132C>T (p.Pro378Ser) rs959973779
NM_000020.3(ACVRL1):c.1153_1157dup (p.Thr387fs)
NM_000020.3(ACVRL1):c.115_116del (p.Pro39fs)
NM_000020.3(ACVRL1):c.1171G>T (p.Glu391Ter)
NM_000020.3(ACVRL1):c.1196G>A (p.Trp399Ter)
NM_000020.3(ACVRL1):c.1197G>A (p.Trp399Ter)
NM_000020.3(ACVRL1):c.121T>G (p.Cys41Gly)
NM_000020.3(ACVRL1):c.1246G>A (p.Gly416Ser) rs1592225112
NM_000020.3(ACVRL1):c.1271C>G (p.Pro424Arg)
NM_000020.3(ACVRL1):c.1277A>G (p.Tyr426Cys)
NM_000020.3(ACVRL1):c.1297C>T (p.Pro433Ser)
NM_000020.3(ACVRL1):c.129dup (p.Pro44fs)
NM_000020.3(ACVRL1):c.131_132insCACA (p.Cys46fs)
NM_000020.3(ACVRL1):c.1331_1332dup (p.Asp445fs) rs1565596508
NM_000020.3(ACVRL1):c.1331dup (p.Asp445fs)
NM_000020.3(ACVRL1):c.1345C>T (p.Pro449Ser)
NM_000020.3(ACVRL1):c.139dup (p.Arg47fs)
NM_000020.3(ACVRL1):c.1419C>A (p.Tyr473Ter)
NM_000020.3(ACVRL1):c.1428del (p.Ser477fs) rs1592228303
NM_000020.3(ACVRL1):c.143_147delinsAGCCT (p.Gly48_Ala49delinsGluPro) rs387906392
NM_000020.3(ACVRL1):c.1448del (p.Leu483fs)
NM_000020.3(ACVRL1):c.1451G>T (p.Arg484Leu) rs863223408
NM_000020.3(ACVRL1):c.206G>A (p.Cys69Tyr)
NM_000020.3(ACVRL1):c.207C>A (p.Cys69Ter)
NM_000020.3(ACVRL1):c.223G>T (p.Glu75Ter)
NM_000020.3(ACVRL1):c.231C>G (p.Cys77Trp)
NM_000020.3(ACVRL1):c.237del (p.Arg80fs)
NM_000020.3(ACVRL1):c.237dup (p.Arg80fs) rs1592221830
NM_000020.3(ACVRL1):c.259del (p.His87fs)
NM_000020.3(ACVRL1):c.295_298dup (p.Ser100fs)
NM_000020.3(ACVRL1):c.329C>A (p.Ser110Ter)
NM_000020.3(ACVRL1):c.336del (p.Gln112fs)
NM_000020.3(ACVRL1):c.352C>T (p.Gln118Ter)
NM_000020.3(ACVRL1):c.362_374del (p.Leu121fs)
NM_000020.3(ACVRL1):c.375dup (p.Val126fs)
NM_000020.3(ACVRL1):c.412_413del (p.Leu138fs)
NM_000020.3(ACVRL1):c.475G>T (p.Glu159Ter)
NM_000020.3(ACVRL1):c.514dup (p.Ser172fs)
NM_000020.3(ACVRL1):c.525+1G>T
NM_000020.3(ACVRL1):c.525+1del rs1060503249
NM_000020.3(ACVRL1):c.598C>G (p.Arg200Gly)
NM_000020.3(ACVRL1):c.621T>A (p.Cys207Ter)
NM_000020.3(ACVRL1):c.623_624del (p.Val208fs) rs1060503240
NM_000020.3(ACVRL1):c.625+1G>T
NM_000020.3(ACVRL1):c.625+1del rs1555152815
NM_000020.3(ACVRL1):c.626-2A>G
NM_000020.3(ACVRL1):c.673_674del (p.Ser225fs)
NM_000020.3(ACVRL1):c.693CTC[1] (p.Ser233del) rs387906391
NM_000020.3(ACVRL1):c.714del (p.Trp239fs)
NM_000020.3(ACVRL1):c.724G>T (p.Glu242Ter)
NM_000020.3(ACVRL1):c.72_79del (p.Lys25fs) rs1592221459
NM_000020.3(ACVRL1):c.743_744del (p.Thr248fs) rs1555152955
NM_000020.3(ACVRL1):c.772+1G>C
NM_000020.3(ACVRL1):c.78_81del (p.Ser27fs)
NM_000020.3(ACVRL1):c.847_853delinsTT (p.Gly283fs)
NM_000020.3(ACVRL1):c.858C>A (p.Tyr286Ter)
NM_000020.3(ACVRL1):c.86del (p.Gly29fs)
NM_000020.3(ACVRL1):c.871A>T (p.Arg291Ter)
NM_000020.3(ACVRL1):c.872_873del (p.Arg291fs) rs1592224087
NM_000020.3(ACVRL1):c.874C>T (p.Gln292Ter)
NM_000020.3(ACVRL1):c.929_932del (p.Leu310fs)
NM_001077401.2(ACVRL1):c.1030T>C (p.Cys344Arg) rs1592224412
NM_001077401.2(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284
NM_001077401.2(ACVRL1):c.1450C>T (p.Arg484Trp) rs121909288
NM_001077401.2(ACVRL1):c.1450delinsTG (p.Arg484fs) rs1085307427
NM_001077401.2(ACVRL1):c.1451G>A (p.Arg484Gln) rs863223408
NM_001077401.2(ACVRL1):c.653_654inv (p.Arg218Pro)
NM_001077401.2(ACVRL1):c.711_713delinsAG (p.Ser238fs) rs1555152935

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