ClinVar Miner

List of variants in gene combination CCNH, RASA1 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: 45
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HGVS dbSNP
NM_002890.2(RASA1):c.1513A[3](p.Ile505Lysfs) rs1554048061
NM_002890.3(RASA1):c.1024dup (p.Glu342fs) rs1554045819
NM_002890.3(RASA1):c.1052G>A (p.Trp351Ter)
NM_002890.3(RASA1):c.1103-1G>T
NM_002890.3(RASA1):c.1164_1165del (p.Tyr389fs)
NM_002890.3(RASA1):c.1192C>T (p.Arg398Ter) rs1210180190
NM_002890.3(RASA1):c.1222C>T (p.Gln408Ter)
NM_002890.3(RASA1):c.1257dup (p.Gly420fs)
NM_002890.3(RASA1):c.1279C>T (p.Arg427Ter) rs975191415
NM_002890.3(RASA1):c.1332+2T>G
NM_002890.3(RASA1):c.1358_1359del (p.Thr453fs) rs1060503439
NM_002890.3(RASA1):c.1579_1582del (p.Val527fs)
NM_002890.3(RASA1):c.1619G>A (p.Cys540Tyr) rs137853217
NM_002890.3(RASA1):c.1659C>A (p.Tyr553Ter) rs747745016
NM_002890.3(RASA1):c.1795delinsGTAAA (p.His599fs)
NM_002890.3(RASA1):c.1926dup (p.Val643fs)
NM_002890.3(RASA1):c.2125C>T (p.Arg709Ter) rs1554049422
NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter) rs863223718
NM_002890.3(RASA1):c.2182G>T (p.Glu728Ter)
NM_002890.3(RASA1):c.2245C>T (p.Arg749Ter) rs1204340475
NM_002890.3(RASA1):c.2252_2255dup (p.Ala753fs) rs1580386963
NM_002890.3(RASA1):c.2333dup (p.Ser779fs) rs1347210621
NM_002890.3(RASA1):c.2402dup (p.Tyr801Ter)
NM_002890.3(RASA1):c.2451dup (p.Ile818fs)
NM_002890.3(RASA1):c.2529dup (p.Asn844Ter) rs878854569
NM_002890.3(RASA1):c.2532_2533delinsATTTGA (p.Asn844fs)
NM_002890.3(RASA1):c.2557dup (p.Ser853fs) rs1554049825
NM_002890.3(RASA1):c.2603+1G>A rs983011713
NM_002890.3(RASA1):c.2698_2701del (p.Val900fs) rs886041232
NM_002890.3(RASA1):c.2707C>T (p.Arg903Ter) rs1554050230
NM_002890.3(RASA1):c.2810_2811del (p.Val937fs)
NM_002890.3(RASA1):c.2866_2867del (p.Val956fs) rs1561331089
NM_002890.3(RASA1):c.2873del (p.Pro958fs) rs1554050584
NM_002890.3(RASA1):c.2909_2913dup (p.Asp972delinsPheTer) rs878854570
NM_002890.3(RASA1):c.2920del (p.Asn976fs)
NM_002890.3(RASA1):c.2925+1del
NM_002890.3(RASA1):c.3028C>T (p.Arg1010Ter)
NM_002890.3(RASA1):c.3043G>T (p.Glu1015Ter) rs1561333645
NM_002890.3(RASA1):c.3050del (p.Gly1017fs)
NM_002890.3(RASA1):c.578_581dup (p.Leu195fs)
NM_002890.3(RASA1):c.613_617del (p.Leu205fs) rs1060503441
NM_002890.3(RASA1):c.656C>G (p.Ser219Ter) rs1554044823
NM_002890.3(RASA1):c.829-9G>A rs1348578241
NM_002890.3(RASA1):c.853C>T (p.Arg285Ter) rs137853218
NM_002890.3(RASA1):c.934_938del (p.Glu312fs)

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