ClinVar for MedGen (Select 334007) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075947	NM_004444.5(EPHB4):c.2424dup (p.Val809fs)	EPHB4, LOC126860124 (V809fs)	Duplication (frameshift variant)	Capillary malformation-arteriovenous malformation syndrome	GPathogenic
Select item 3022925	NM_002890.3(RASA1):c.675T>C (p.Asn225=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 3022567	NM_002890.3(RASA1):c.2520T>C (p.Asp840=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 3021588	NM_002890.3(RASA1):c.2403T>C (p.Tyr801=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 3021373	NM_002890.3(RASA1):c.1254-11T>C	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 3019710	NM_002890.3(RASA1):c.1306T>A (p.Tyr436Asn)	CCNH, RASA1 (Y436N +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 3018848	NM_002890.3(RASA1):c.263G>C (p.Gly88Ala)	RASA1 (G88A)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 3017555	NM_002890.3(RASA1):c.1698+7T>C	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 3012003	NM_002890.3(RASA1):c.142C>G (p.Pro48Ala)	RASA1 (P48A)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 3010761	NM_002890.3(RASA1):c.2160A>G (p.Glu720=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 3008078	NM_002890.3(RASA1):c.118G>A (p.Ala40Thr)	RASA1 (A40T)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 3006477	NM_002890.3(RASA1):c.3042T>C (p.Asn1014=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 3002021	NM_002890.3(RASA1):c.587G>C (p.Arg196Thr)	CCNH, RASA1 (R19T +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 3000833	NM_002890.3(RASA1):c.1479A>G (p.Leu493=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2998551	NM_002890.3(RASA1):c.1453+2T>C	CCNH, RASA1	Single nucleotide variant (splice donor variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely pathogenic
Select item 2996979	NM_002890.3(RASA1):c.2083C>T (p.His695Tyr)	CCNH, RASA1 (H518Y +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2995709	NM_002890.3(RASA1):c.2012-7T>C	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2995288	NM_002890.3(RASA1):c.2027A>T (p.Gln676Leu)	CCNH, RASA1 (Q676L +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2994520	NM_002890.3(RASA1):c.694A>G (p.Ile232Val)	CCNH, RASA1 (I55V +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2990077	NM_002890.3(RASA1):c.1363G>A (p.Asp455Asn)	CCNH, RASA1 (D278N +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2981981	NM_002890.3(RASA1):c.1776+4A>G	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2981878	NM_002890.3(RASA1):c.2568G>A (p.Val856=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2979295	NM_002890.3(RASA1):c.311G>T (p.Gly104Val)	RASA1 (G104V)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2977815	NM_002890.3(RASA1):c.2527A>G (p.Thr843Ala)	CCNH, RASA1 (T666A +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2976992	NM_002890.3(RASA1):c.2447A>G (p.Asp816Gly)	CCNH, RASA1 (D816G +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2975843	NM_002890.3(RASA1):c.1102+4C>T	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2974789	NM_002890.3(RASA1):c.1302A>C (p.Gly434=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2973079	NM_002890.3(RASA1):c.2160A>C (p.Glu720Asp)	CCNH, RASA1 (E720D +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2969626	NM_002890.3(RASA1):c.299_325del (p.Ala100_Ala108del)	RASA1	Deletion (inframe_deletion)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2967939	NM_002890.3(RASA1):c.1754C>T (p.Thr585Ile)	CCNH, RASA1 (T408I +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2966922	NM_002890.3(RASA1):c.2422C>G (p.Gln808Glu)	CCNH, RASA1 (Q631E +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2966736	NM_002890.3(RASA1):c.1332+3C>G	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2966243	NM_002890.3(RASA1):c.2210T>C (p.Val737Ala)	CCNH, RASA1 (V737A +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2965598	NM_002890.3(RASA1):c.2697T>C (p.Phe899=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2964244	NM_002890.3(RASA1):c.1610+20T>C	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2963506	NM_002890.3(RASA1):c.1683T>C (p.Thr561=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2962476	NM_002890.3(RASA1):c.967T>C (p.Leu323=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2961545	NM_002890.3(RASA1):c.1092A>G (p.Leu364=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2960607	NM_002890.3(RASA1):c.1453+10G>A	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2958615	NM_002890.3(RASA1):c.1934+11T>C	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2956996	NM_002890.3(RASA1):c.382C>T (p.Leu128Phe)	RASA1 (L128F)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2919515	NM_002890.3(RASA1):c.2425T>C (p.Phe809Leu)	CCNH, RASA1 (F809L +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2919243	NM_002890.3(RASA1):c.19G>C (p.Gly7Arg)	RASA1 (G7R)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2918779	NM_002890.3(RASA1):c.116C>T (p.Pro39Leu)	RASA1 (P39L)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2918070	NM_002890.3(RASA1):c.679G>T (p.Val227Phe)	CCNH, RASA1 (V227F +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2917825	NM_002890.3(RASA1):c.2872C>T (p.Pro958Ser)	CCNH, RASA1 (P781S +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2917745	NM_002890.3(RASA1):c.1698+7_1698+8delinsCA	CCNH, RASA1	Indel (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2917493	NM_002890.3(RASA1):c.2848-17A>G	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2917291	NM_002890.3(RASA1):c.2943G>T (p.Pro981=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2916765	NM_002890.3(RASA1):c.2926-13G>A	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2915705	NM_002890.3(RASA1):c.2184+14T>G	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2914763	NM_002890.3(RASA1):c.690T>C (p.Phe230=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2914691	NM_002890.3(RASA1):c.1777-20_1777-14del	CCNH, RASA1	Deletion (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2914330	NM_002890.3(RASA1):c.1253+17dup	CCNH, RASA1	Duplication (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2914316	NM_002890.3(RASA1):c.1467T>C (p.Arg489=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2913122	NM_002890.3(RASA1):c.240A>G (p.Ala80=)	RASA1	Single nucleotide variant (synonymous variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2912517	NM_002890.3(RASA1):c.2848-18A>C	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2911950	NM_002890.3(RASA1):c.251C>T (p.Ala84Val)	RASA1 (A84V)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2911497	NM_002890.3(RASA1):c.2742G>A (p.Met914Ile)	CCNH, RASA1 (M737I +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2910391	NM_002890.3(RASA1):c.2759-20T>A	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2909610	NM_002890.3(RASA1):c.692+6T>G	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2908961	NM_002890.3(RASA1):c.2232A>G (p.Val744=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2907518	NM_002890.3(RASA1):c.38C>G (p.Pro13Arg)	RASA1 (P13R)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2905938	NM_002890.3(RASA1):c.1453+20A>T	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2905205	NM_002890.3(RASA1):c.374C>G (p.Ala125Gly)	RASA1 (A125G)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2904466	NM_002890.3(RASA1):c.3007G>A (p.Val1003Met)	CCNH, RASA1 (V1003M +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2903064	NM_002890.3(RASA1):c.1710A>G (p.Lys570=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2902299	NM_002890.3(RASA1):c.1610+3A>G	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2902268	NM_002890.3(RASA1):c.693-20A>G	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2899021	NM_002890.3(RASA1):c.753C>G (p.Asp251Glu)	CCNH, RASA1 (D251E +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2898029	NM_002890.3(RASA1):c.1864A>G (p.Ser622Gly)	CCNH, RASA1 (S445G +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2897150	NM_002890.3(RASA1):c.1454-13T>G	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2893835	NM_002890.3(RASA1):c.3063C>T (p.His1021=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +3 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2893369	NM_002890.3(RASA1):c.402del (p.Pro136fs)	RASA1 (P136fs)	Deletion (frameshift variant)	Capillary malformation-arteriovenous malformation syndrome	GPathogenic
Select item 2889799	NM_002890.3(RASA1):c.375T>G (p.Ala125=)	RASA1	Single nucleotide variant (synonymous variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2889298	NM_002890.3(RASA1):c.1716G>C (p.Leu572=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2888820	NM_002890.3(RASA1):c.899+12T>C	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2888181	NM_002890.3(RASA1):c.80C>T (p.Ser27Phe)	RASA1 (S27F)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2887526	NM_002890.3(RASA1):c.87C>T (p.Ala29=)	RASA1	Single nucleotide variant (synonymous variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2886784	NM_002890.3(RASA1):c.1333-13T>C	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2883695	NM_002890.3(RASA1):c.336A>C (p.Gly112=)	RASA1	Single nucleotide variant (synonymous variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2882458	NM_002890.3(RASA1):c.1333-19A>T	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2882456	NM_002890.3(RASA1):c.341T>C (p.Met114Thr)	RASA1 (M114T)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2882445	NM_002890.3(RASA1):c.1261G>A (p.Asp421Asn)	CCNH, RASA1 (D244N +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2881796	NM_002890.3(RASA1):c.2906T>G (p.Met969Arg)	CCNH, RASA1 (M792R +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2881451	NM_002890.3(RASA1):c.1279C>A (p.Arg427=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2879960	NM_002890.3(RASA1):c.67G>C (p.Ala23Pro)	RASA1 (A23P)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2879557	NM_002890.3(RASA1):c.1857C>T (p.Tyr619=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2877117	NM_002890.3(RASA1):c.2361A>G (p.Leu787=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2877034	NM_002890.3(RASA1):c.434_451delinsA (p.Pro145fs)	RASA1 (P145fs)	Indel (frameshift variant)	Capillary malformation-arteriovenous malformation syndrome	GPathogenic
Select item 2876372	NM_002890.3(RASA1):c.414C>T (p.Pro138=)	RASA1	Single nucleotide variant (synonymous variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2871111	NM_002890.3(RASA1):c.1698+16C>A	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2866814	NM_002890.3(RASA1):c.1917A>G (p.Ser639=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2865936	NM_002890.3(RASA1):c.828+12G>A	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2865591	NM_002890.3(RASA1):c.1018-3T>C	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2864146	NM_002890.3(RASA1):c.2690+10A>T	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2862784	NM_002890.3(RASA1):c.453G>C (p.Gly151=)	RASA1	Single nucleotide variant (synonymous variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2862243	NM_002890.3(RASA1):c.2758+8G>C	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2861924	NM_002890.3(RASA1):c.2715C>T (p.Ile905=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2858241	NM_002890.3(RASA1):c.2251C>T (p.Leu751=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign

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