ClinVar for Gene (Select 5922) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247002	NC_000003.11:g.(?_141102833)_(142184102_?)del	ATP1B3, ATR +7 more	Deletion	not provided	GUncertain significance
Select item 3233537	NM_006506.5(RASA2):c.2057A>C (p.Gln686Pro)	RASA2 (Q686P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225613	NM_006506.5(RASA2):c.902C>G (p.Ser301Cys)	RASA2 (S301C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225612	NM_006506.5(RASA2):c.854A>G (p.His285Arg)	RASA2 (H285R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225611	NM_006506.5(RASA2):c.716C>G (p.Ser239Cys)	RASA2 (S239C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225610	NM_006506.5(RASA2):c.542A>G (p.His181Arg)	RASA2 (H181R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225609	NM_006506.5(RASA2):c.503C>G (p.Thr168Ser)	RASA2 (T168S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225608	NM_006506.5(RASA2):c.449A>G (p.Gln150Arg)	RASA2 (Q150R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225607	NM_006506.5(RASA2):c.336A>G (p.Leu112=)	RASA2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3225606	NM_006506.5(RASA2):c.320A>G (p.Tyr107Cys)	RASA2 (Y107C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225605	NM_006506.5(RASA2):c.277T>C (p.Phe93Leu)	RASA2 (F93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225604	NM_006506.5(RASA2):c.1697T>C (p.Met566Thr)	RASA2 (M566T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225603	NM_006506.5(RASA2):c.1695C>G (p.Phe565Leu)	RASA2 (F565L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225602	NM_006506.5(RASA2):c.13G>A (p.Ala5Thr)	LOC129937686, RASA2 (A5T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225601	NM_006506.5(RASA2):c.131T>C (p.Ile44Thr)	LOC129937686, RASA2 (I44T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225600	NM_006506.5(RASA2):c.1149A>G (p.Glu383=)	RASA2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3225599	NM_006506.5(RASA2):c.1001T>G (p.Leu334Arg)	RASA2 (L334R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151696	NM_006506.5(RASA2):c.698G>A (p.Ser233Asn)	RASA2 (S233N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151695	NM_006506.5(RASA2):c.461A>C (p.His154Pro)	RASA2 (H154P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151694	NM_006506.5(RASA2):c.2462A>G (p.Asp821Gly)	RASA2 (D822G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151693	NM_006506.5(RASA2):c.1700G>T (p.Cys567Phe)	RASA2 (C567F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151692	NM_006506.5(RASA2):c.1183A>G (p.Ile395Val)	RASA2 (I395V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151691	NM_006506.5(RASA2):c.1135A>C (p.Thr379Pro)	RASA2 (T379P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151690	NM_006506.5(RASA2):c.1060T>C (p.Cys354Arg)	RASA2 (C354R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063811	NM_006506.5(RASA2):c.1410A>G (p.Ser470=)	RASA2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3063744	NM_006506.5(RASA2):c.1170-8T>C	RASA2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3055574	NM_006506.5(RASA2):c.663T>C (p.Phe221=)	RASA2	Single nucleotide variant (synonymous variant)	RASA2-related disorder	GLikely benign
Select item 3045181	NM_006506.5(RASA2):c.1049dup (p.Leu350fs)	RASA2 (L350fs)	Duplication (frameshift variant)	RASA2-related disorder	GUncertain significance
Select item 3023975	NM_006506.5(RASA2):c.527+15del	RASA2	Deletion (intron variant)	not provided	GBenign
Select item 3012640	NM_006506.5(RASA2):c.356-4G>A	RASA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007536	NM_006506.5(RASA2):c.1738A>G (p.Ile580Val)	RASA2 (I580V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005980	NM_006506.5(RASA2):c.876G>A (p.Gln292=)	RASA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004664	NM_006506.5(RASA2):c.3_23dup (p.Ala11_Ser12insAlaProAlaAlaAlaAlaAla)	LOC129937686, RASA2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 3003408	NM_006506.5(RASA2):c.70C>A (p.Pro24Thr)	LOC129937686, RASA2 (P24T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001851	NM_006506.5(RASA2):c.1767T>G (p.Ile589Met)	RASA2 (I589M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993015	NM_006506.5(RASA2):c.660G>A (p.Gln220=)	RASA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988737	NM_006506.5(RASA2):c.2520-20T>A	RASA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986746	NM_006506.5(RASA2):c.1940A>G (p.Asp647Gly)	RASA2 (D648G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2982566	NM_006506.5(RASA2):c.1285-10T>A	RASA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976785	NM_006506.5(RASA2):c.211G>A (p.Glu71Lys)	RASA2 (E71K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2974508	NM_006506.5(RASA2):c.1026A>G (p.Ile342Met)	RASA2 (I342M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968608	NM_006506.5(RASA2):c.1285-19T>G	RASA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966950	NM_006506.5(RASA2):c.16_30dup (p.Ala10_Ala11insProAlaAlaAlaAla)	LOC129937686, RASA2	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2966154	NM_006506.5(RASA2):c.762-2A>G	RASA2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2965687	NM_006506.5(RASA2):c.1561C>T (p.His521Tyr)	RASA2 (H521Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964849	NM_006506.5(RASA2):c.876_877delinsTT (p.Gln292_Pro293delinsHisSer)	RASA2	Indel (missense variant)	not provided	GUncertain significance
Select item 2958120	NM_006506.5(RASA2):c.53C>T (p.Ala18Val)	LOC129937686, RASA2 (A18V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2955500	NM_006506.5(RASA2):c.2203C>G (p.Leu735Val)	RASA2 (L735V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955161	NM_006506.5(RASA2):c.1620C>G (p.Leu540=)	RASA2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2909369	NM_006506.5(RASA2):c.1824A>C (p.Glu608Asp)	RASA2 (E608D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908725	NM_006506.5(RASA2):c.2530A>G (p.Ile844Val)	RASA2 (I844V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892062	NM_006506.5(RASA2):c.2017-1G>T	RASA2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2884800	NM_006506.5(RASA2):c.1747A>G (p.Lys583Glu)	RASA2 (K583E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879167	NM_006506.5(RASA2):c.2226-20T>A	RASA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874301	NM_006506.5(RASA2):c.1050G>A (p.Leu350=)	RASA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873607	NM_006506.5(RASA2):c.134-10A>G	RASA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872053	NM_006506.5(RASA2):c.1021-16A>G	RASA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866873	NM_006506.5(RASA2):c.1033T>C (p.Ser345Pro)	RASA2 (S345P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2861144	NM_006506.5(RASA2):c.2531T>C (p.Ile844Thr)	RASA2 (I844T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858447	NM_006506.5(RASA2):c.1483+1G>A	RASA2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2856569	NM_006506.5(RASA2):c.1004A>G (p.Lys335Arg)	RASA2 (K335R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2852141	NM_006506.5(RASA2):c.432C>A (p.Asp144Glu)	RASA2 (D144E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851508	NM_006506.5(RASA2):c.1483+20A>T	RASA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851434	NM_006506.5(RASA2):c.611+6A>G	RASA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2848971	NM_006506.5(RASA2):c.2133C>T (p.Leu711=)	RASA2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2846918	NM_006506.5(RASA2):c.672C>T (p.Ile224=)	RASA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844354	NM_006506.5(RASA2):c.687_688insG (p.Thr230fs)	RASA2 (T230fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2839809	NM_006506.5(RASA2):c.1508C>T (p.Ala503Val)	RASA2 (A503V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835472	NM_006506.5(RASA2):c.2036C>A (p.Thr679Lys)	RASA2 (T683K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835317	NM_006506.5(RASA2):c.1515C>G (p.Ser505Arg)	RASA2 (S505R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2823871	NM_006506.5(RASA2):c.2238A>G (p.Ala746=)	RASA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819619	NM_006506.5(RASA2):c.223C>G (p.Arg75Gly)	RASA2 (R75G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819169	NM_006506.5(RASA2):c.1006T>C (p.Ser336Pro)	RASA2 (S336P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817897	NM_006506.5(RASA2):c.1073A>C (p.Asn358Thr)	RASA2 (N358T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816442	NM_006506.5(RASA2):c.2059G>A (p.Ala687Thr)	RASA2 (A687T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816385	NM_006506.5(RASA2):c.2421dup (p.Lys808Ter)	RASA2 (K812* +2 more)	Duplication (nonsense)	not provided	GUncertain significance
Select item 2815395	NM_006506.5(RASA2):c.687A>G (p.Val229=)	RASA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813325	NM_006506.5(RASA2):c.1459C>A (p.Gln487Lys)	RASA2 (Q487K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2813231	NM_006506.5(RASA2):c.736G>T (p.Glu246Ter)	RASA2 (E246*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2812527	NM_006506.5(RASA2):c.19G>C (p.Ala7Pro)	LOC129937686, RASA2 (A7P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812000	NM_006506.5(RASA2):c.527A>G (p.His176Arg)	RASA2 (H176R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811853	NM_006506.5(RASA2):c.2238A>C (p.Ala746=)	RASA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802776	NM_006506.5(RASA2):c.1934-5T>A	RASA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796434	NM_006506.5(RASA2):c.928C>T (p.Arg310Ter)	RASA2 (R310*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2793302	NM_006506.5(RASA2):c.2016+1G>A	RASA2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2789313	NM_006506.5(RASA2):c.1565C>G (p.Thr522Ser)	RASA2 (T522S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785551	NM_006506.5(RASA2):c.1526TTC[1] (p.Leu510del)	RASA2 (L510del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2784672	NM_006506.5(RASA2):c.2520-5T>C	RASA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784382	NM_006506.5(RASA2):c.612-11C>T	RASA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2783366	NM_006506.5(RASA2):c.1169+4A>G	RASA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2771155	NM_006506.5(RASA2):c.1388T>C (p.Leu463Ser)	RASA2 (L463S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2766680	NM_006506.5(RASA2):c.582T>G (p.Tyr194Ter)	RASA2 (Y194*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2761347	NM_006506.5(RASA2):c.976T>G (p.Tyr326Asp)	RASA2 (Y326D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2761140	NM_006506.5(RASA2):c.1020+16T>G	RASA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759990	NM_006506.5(RASA2):c.1251C>T (p.Tyr417=)	RASA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2757969	NM_006506.5(RASA2):c.903C>A (p.Ser301=)	RASA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2757942	NM_006506.5(RASA2):c.528-7A>G	RASA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2755731	NM_006506.5(RASA2):c.1958C>T (p.Pro653Leu)	RASA2 (P653L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2755594	NM_006506.5(RASA2):c.1749_1751del (p.Lys584del)	RASA2 (K584del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2745941	NM_006506.5(RASA2):c.1953A>C (p.Thr651=)	RASA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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