ClinVar for Gene (Select 902) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362905	NM_002890.3(RASA1):c.2590G>T (p.Glu864Ter)	CCNH, RASA1 (E687* +1 more)	Single nucleotide variant (nonsense +1 more)	Capillary malformation-arteriovenous malformation 1	GLikely pathogenic
Select item 3362071	NM_002890.3(RASA1):c.786G>C (p.Leu262Phe)	CCNH, RASA1 (L262F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3340453	NM_002890.3(RASA1):c.1934_1934+1del	CCNH, RASA1	Deletion (splice donor variant +1 more)	Capillary malformation-arteriovenous malformation 1	GPathogenic
Select item 3340442	NM_002890.3(RASA1):c.2041_2042dup (p.Gln681fs)	CCNH, RASA1 (Q504fs +1 more)	Duplication (frameshift variant +1 more)	Capillary malformation-arteriovenous malformation 1	GPathogenic
Select item 3340436	NM_002890.3(RASA1):c.1333-1G>T	CCNH, RASA1	Single nucleotide variant (splice acceptor variant +1 more)	Capillary malformation-arteriovenous malformation 1	GPathogenic
Select item 3340435	NM_002890.3(RASA1):c.1490dup (p.Leu497fs)	CCNH, RASA1 (L320fs +1 more)	Duplication (frameshift variant +1 more)	Capillary malformation-arteriovenous malformation 1	GPathogenic
Select item 3340434	NM_002890.3(RASA1):c.2345-1G>C	CCNH, RASA1	Single nucleotide variant (splice acceptor variant +1 more)	Capillary malformation-arteriovenous malformation 1	GPathogenic
Select item 3340433	NM_002890.3(RASA1):c.1453_1453+5del	CCNH, RASA1	Deletion (splice donor variant +1 more)	Capillary malformation-arteriovenous malformation 1	GPathogenic
Select item 3340432	NM_002890.3(RASA1):c.2926-1G>A	CCNH, RASA1	Single nucleotide variant (splice acceptor variant +1 more)	Capillary malformation-arteriovenous malformation 1	GLikely pathogenic
Select item 3340430	NM_002890.3(RASA1):c.1050-1G>A	CCNH, RASA1	Single nucleotide variant (splice acceptor variant +1 more)	Capillary malformation-arteriovenous malformation 1	GPathogenic
Select item 3312832	NM_002890.3(RASA1):c.2703T>C (p.Phe901=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3312830	NM_002890.3(RASA1):c.1333G>A (p.Asp445Asn)	CCNH, RASA1 (D445N +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3312829	NM_002890.3(RASA1):c.2319A>G (p.Leu773=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3264568	NM_001239.4(CCNH):c.179A>T (p.Tyr60Phe)	CCNH (Y60F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264566	NM_001239.4(CCNH):c.761G>C (p.Ser254Thr)	CCNH (S201T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264565	NM_001239.4(CCNH):c.611A>G (p.Tyr204Cys)	CCNH (Y151C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264564	NM_001239.4(CCNH):c.533A>G (p.Tyr178Cys)	CCNH (Y178C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3256619	NM_002890.3(RASA1):c.2485_2487+2del	CCNH, RASA1	Deletion (splice donor variant +1 more)	Capillary malformation-arteriovenous malformation 1	GLikely pathogenic
Select item 3253577	NM_002890.3(RASA1):c.1698+2dup	CCNH, RASA1	Duplication (splice donor variant +1 more)	not provided	GUncertain significance
Select item 3253307	NM_002890.3(RASA1):c.1847G>A (p.Cys616Tyr)	CCNH, RASA1 (C439Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3250851	NM_002890.3(RASA1):c.1934+2T>C	CCNH, RASA1	Single nucleotide variant (splice donor variant +1 more)	not provided	GPathogenic
Select item 3242185	NM_002890.3(RASA1):c.581G>A (p.Arg194His)	CCNH, RASA1 (R17H +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
Select item 3237444	NM_002890.3(RASA1):c.2318T>C (p.Leu773Pro)	CCNH, RASA1 (L596P +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
Select item 3237416	NM_002890.3(RASA1):c.898A>G (p.Ser300Gly)	CCNH, RASA1 (S123G +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
Select item 3235905	GRCh38/hg38 5q14.3(chr5:86235182-91734581)	ADGRV1, ARRDC3 +119 more	Copy number loss	5q14.3 microdeletion	GPathogenic
Select item 3222919	NM_002890.3(RASA1):c.865C>G (p.Pro289Ala)	CCNH, RASA1 (P112A +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3222918	NM_002890.3(RASA1):c.622G>A (p.Glu208Lys)	CCNH, RASA1 (E208K +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3222916	NM_002890.3(RASA1):c.2960C>G (p.Ser987Cys)	CCNH, RASA1 (S810C +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3222915	NM_002890.3(RASA1):c.2754C>T (p.Ile918=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3222914	NM_002890.3(RASA1):c.2438C>T (p.Ala813Val)	CCNH, RASA1 (A636V +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3222913	NM_002890.3(RASA1):c.2330A>G (p.Glu777Gly)	CCNH, RASA1 (E600G +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3222912	NM_002890.3(RASA1):c.2024G>A (p.Cys675Tyr)	CCNH, RASA1 (C498Y +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3222910	NM_002890.3(RASA1):c.1744A>T (p.Ser582Cys)	CCNH, RASA1 (S405C +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3222909	NM_002890.3(RASA1):c.1677A>G (p.Gly559=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3222908	NM_002890.3(RASA1):c.1454-11_1454-7del	CCNH, RASA1	Deletion (intron variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 3222907	NM_002890.3(RASA1):c.1383T>C (p.Asn461=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3222906	NM_002890.3(RASA1):c.1014G>C (p.Glu338Asp)	CCNH, RASA1 (E161D +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3151688	NM_002890.3(RASA1):c.2483G>C (p.Cys828Ser)	CCNH, RASA1 (C828S +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3139936	NM_001239.4(CCNH):c.907G>A (p.Val303Ile)	CCNH (V250I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139935	NM_001239.4(CCNH):c.76G>A (p.Ala26Thr)	CCNH, LOC129994174 (A26T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3139934	NM_001239.4(CCNH):c.384C>A (p.Asn128Lys)	CCNH (N128K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139933	NM_001239.4(CCNH):c.374T>G (p.Phe125Cys)	CCNH (F125C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3057153	NM_002890.3(RASA1):c.2970C>T (p.Asp990=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	RASA1-related disorder	GLikely benign
Select item 3054126	NM_002890.3(RASA1):c.1505C>T (p.Ala502Val)	CCNH, RASA1 (A325V +1 more)	Single nucleotide variant (missense variant +1 more)	RASA1-related disorder	GLikely benign
Select item 3053238	NM_002890.3(RASA1):c.2120G>A (p.Arg707His)	CCNH, RASA1 (R530H +1 more)	Single nucleotide variant (missense variant +1 more)	RASA1-related disorder	GUncertain significance
Select item 3037536	NM_002890.3(RASA1):c.2756C>T (p.Ser919Leu)	CCNH, RASA1 (S742L +1 more)	Single nucleotide variant (missense variant +1 more)	RASA1-related disorder	GUncertain significance
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 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 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 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 +1 more	GConflicting classifications of pathogenicity
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 +1 more	GConflicting classifications of pathogenicity
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 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 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 2921092	NM_002890.3(RASA1):c.2691-1G>T	CCNH, RASA1	Single nucleotide variant (splice acceptor variant +1 more)	Capillary malformation-arteriovenous malformation 1 +1 more	GPathogenic/Likely pathogenic
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 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 +1 more	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 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 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 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 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

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