ClinVar Miner

List of variants reported as pathogenic for capillary malformation by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NM_000020.2(ACVRL1):c.1121G>A (p.Arg374Gln) rs1060503248
NM_000020.2(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
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.406_409del (p.Gly136fs) rs863223416
NM_000020.2(ACVRL1):c.601C>T (p.Gln201Ter) rs1318446539
NM_000020.2(ACVRL1):c.632G>A (p.Gly211Asp) rs28936687
NM_000020.2(ACVRL1):c.914C>T (p.Ser305Phe) rs1555153126
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr) rs28936688
NM_000020.3(ACVRL1):c.1246G>A (p.Gly416Ser) rs1592225112
NM_000020.3(ACVRL1):c.295_298dup (p.Ser100fs)
NM_000020.3(ACVRL1):c.673_674del (p.Ser225fs)
NM_000020.3(ACVRL1):c.72_79del (p.Lys25fs) rs1592221459
NM_000118.3(ENG):c.-9G>A rs368423516
NM_000118.3(ENG):c.1134G>A (p.Ala378=) rs1329127701
NM_000118.3(ENG):c.1195_1196del (p.Arg399fs) rs1131691422
NM_000118.3(ENG):c.1195del (p.Arg399fs) rs1131691444
NM_000118.3(ENG):c.1243C>T (p.Gln415Ter) rs1343053876
NM_000118.3(ENG):c.1309C>T (p.Arg437Trp) rs1434169817
NM_000118.3(ENG):c.1428+1G>A rs863223542
NM_000118.3(ENG):c.145G>T (p.Val49Phe) rs1252348200
NM_000118.3(ENG):c.1689_1699del (p.Glu563Aspfs)
NM_000118.3(ENG):c.187G>T (p.Glu63Ter) rs1588596830
NM_000118.3(ENG):c.360+1G>A rs886039505
NM_000118.3(ENG):c.360C>A (p.Tyr120Ter) rs121918402
NM_000118.3(ENG):c.588G>A (p.Trp196Ter) rs1588582860
NM_000118.3(ENG):c.662T>C (p.Leu221Pro) rs1554810378
NM_000118.3(ENG):c.667del (p.Val223fs) rs1588582666
NM_000118.3(ENG):c.721_725del (p.Ser241fs) rs1064794219
NM_000118.3(ENG):c.771dup (p.Tyr258fs) rs1588581902
NM_000118.3(ENG):c.817-1G>C rs1564455715
NM_000118.3(ENG):c.838A>T (p.Lys280Ter) rs1588581497
NM_000118.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_001077401.2(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284
NM_001114753.3(ENG):c.1272+2T>C
NM_001114753.3(ENG):c.1311G>A (p.Arg437=)
NM_001114753.3(ENG):c.142C>T (p.Gln48Ter)
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter)
NM_002890.3(RASA1):c.2925+1del
NM_002890.3(RASA1):c.934_938del (p.Glu312fs)

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