ClinVar Miner

List of variants in gene ACVRL1 reported as likely benign for capillary malformation

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 66
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HGVS dbSNP
NM_000020.2(ACVRL1):c.*45del rs761647766
NM_000020.2(ACVRL1):c.*856dup rs544534093
NM_000020.2(ACVRL1):c.-202C>G rs573855752
NM_000020.2(ACVRL1):c.1134C>T (p.Pro378=) rs147021958
NM_000020.2(ACVRL1):c.1249A>T (p.Ile417Phe) rs141653630
NM_000020.2(ACVRL1):c.1348A>G (p.Thr450Ala) rs146206499
NM_000020.2(ACVRL1):c.207C>T (p.Cys69=) rs56080682
NM_000020.2(ACVRL1):c.465C>T (p.Ser155=) rs143735377
NM_000020.2(ACVRL1):c.484C>T (p.Leu162Phe) rs76038779
NM_000020.2(ACVRL1):c.536A>C (p.Asp179Ala) rs753792569
NM_000020.2(ACVRL1):c.666C>T (p.His222=) rs377194545
NM_000020.2(ACVRL1):c.780C>T (p.Ile260=) rs911791104
NM_000020.2(ACVRL1):c.88C>T (p.Pro30Ser) rs149664056
NM_000020.3(ACVRL1):c.*1369C>T
NM_000020.3(ACVRL1):c.*46T>G
NM_000020.3(ACVRL1):c.*823C>T
NM_000020.3(ACVRL1):c.*871C>T
NM_000020.3(ACVRL1):c.1032T>C (p.Cys344=)
NM_000020.3(ACVRL1):c.1041C>G (p.Ala347=) rs750685021
NM_000020.3(ACVRL1):c.1041C>T (p.Ala347=)
NM_000020.3(ACVRL1):c.1048+55_1048+58del
NM_000020.3(ACVRL1):c.1084C>T (p.Leu362=)
NM_000020.3(ACVRL1):c.1098C>T (p.Asn366=) rs779118678
NM_000020.3(ACVRL1):c.1104G>A (p.Pro368=) rs147885255
NM_000020.3(ACVRL1):c.111G>A (p.Glu37=)
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313
NM_000020.3(ACVRL1):c.1153A>C (p.Ile385Leu)
NM_000020.3(ACVRL1):c.1173G>A (p.Glu391=)
NM_000020.3(ACVRL1):c.1239C>T (p.Ile413=) rs755557465
NM_000020.3(ACVRL1):c.1275C>T (p.Phe425=) rs191763644
NM_000020.3(ACVRL1):c.1323G>A (p.Val441=) rs1592226875
NM_000020.3(ACVRL1):c.1378-417C>T
NM_000020.3(ACVRL1):c.1378-490_1378-489insTGA
NM_000020.3(ACVRL1):c.1405C>A (p.Arg469=)
NM_000020.3(ACVRL1):c.1443C>T (p.Thr481=)
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865
NM_000020.3(ACVRL1):c.1509A>G (p.Gln503=)
NM_000020.3(ACVRL1):c.24A>G (p.Lys8=)
NM_000020.3(ACVRL1):c.270C>T (p.Cys90=)
NM_000020.3(ACVRL1):c.294C>T (p.Asn98=) rs141429164
NM_000020.3(ACVRL1):c.303G>C (p.Leu101=) rs376417482
NM_000020.3(ACVRL1):c.393C>T (p.Ala131=)
NM_000020.3(ACVRL1):c.417C>A (p.Gly139=)
NM_000020.3(ACVRL1):c.462C>T (p.His154=)
NM_000020.3(ACVRL1):c.525+10T>C
NM_000020.3(ACVRL1):c.526-10G>A
NM_000020.3(ACVRL1):c.526-11C>T
NM_000020.3(ACVRL1):c.573C>G (p.Pro191=) rs1404977364
NM_000020.3(ACVRL1):c.579G>T (p.Leu193=)
NM_000020.3(ACVRL1):c.626-59del rs864622702
NM_000020.3(ACVRL1):c.681C>T (p.Ala227=)
NM_000020.3(ACVRL1):c.699G>A (p.Ser233=)
NM_000020.3(ACVRL1):c.69T>C (p.Pro23=) rs762796409
NM_000020.3(ACVRL1):c.759C>T (p.His253=) rs374020751
NM_000020.3(ACVRL1):c.77C>T (p.Pro26Leu) rs199542304
NM_000020.3(ACVRL1):c.786A>G (p.Ser262=) rs200320649
NM_000020.3(ACVRL1):c.798C>A (p.Ser266=)
NM_000020.3(ACVRL1):c.807G>A (p.Ser269=)
NM_000020.3(ACVRL1):c.840C>T (p.His280=) rs146188863
NM_000020.3(ACVRL1):c.858C>T (p.Tyr286=) rs542810348
NM_000020.3(ACVRL1):c.888C>G (p.Pro296=) rs776879586
NM_000020.3(ACVRL1):c.918G>C (p.Ala306=) rs1359095143
NM_000020.3(ACVRL1):c.927_928delinsAT (p.Gly309_Leu310=) rs1592224196
NM_000020.3(ACVRL1):c.948G>C (p.Glu316Asp)
NM_000020.3(ACVRL1):c.990C>T (p.Asp330=)
NM_000020.3(ACVRL1):c.9G>A (p.Leu3=) rs779236098

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