ClinVar Miner

List of variants in gene ACVRL1 reported as pathogenic by Invitae

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Gene type:
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Total variants: 67
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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.1030T>C (p.Cys344Arg)
NM_000020.2(ACVRL1):c.1031G>A (p.Cys344Tyr) rs28936688
NM_000020.2(ACVRL1):c.1036_1040del (p.Ile346fs) rs1565594524
NM_000020.2(ACVRL1):c.1042del (p.Asp348fs) rs1565594536
NM_000020.2(ACVRL1):c.1048G>C (p.Gly350Arg) rs1565594547
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.1135G>A (p.Glu379Lys) rs1131691686
NM_000020.2(ACVRL1):c.1147G>T (p.Glu383Ter) rs148057374
NM_000020.2(ACVRL1):c.1217G>A (p.Trp406Ter) rs1060503235
NM_000020.2(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.2(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284
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.1323_1324dup (p.Val442fs) rs1555153830
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.1413C>A (p.Cys471Ter) rs1301762186
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.1451G>A (p.Arg484Gln) rs863223408
NM_000020.2(ACVRL1):c.145del (p.Ala49fs) rs863223415
NM_000020.2(ACVRL1):c.145dup (p.Ala49fs) rs863223415
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.237dup (p.Arg80fs)
NM_000020.2(ACVRL1):c.270C>A (p.Cys90Ter)
NM_000020.2(ACVRL1):c.313+1G>T rs1555152548
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+1delG rs1060503249
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.601C>T (p.Gln201Ter) rs1318446539
NM_000020.2(ACVRL1):c.619_620TG[2] (p.Val208fs) rs1060503240
NM_000020.2(ACVRL1):c.625+1delG rs1555152815
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.693_695CTC[1] (p.Ser233del) rs387906391
NM_000020.2(ACVRL1):c.711_713delinsAG (p.Ser238fs) rs1555152935
NM_000020.2(ACVRL1):c.808_820dup (p.Trp274Ter) rs1555153077
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.870_871GA[1] (p.Arg291fs)
NM_000020.2(ACVRL1):c.889del (p.His297fs) rs1060503245
NM_000020.2(ACVRL1):c.924C>A (p.Cys308Ter) rs1555153131
NM_000020.2(ACVRL1):c.940C>T (p.His314Tyr) rs1565594311

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