ClinVar for Gene (Select 57674) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242941	NC_000017.10:g.(?_76109229)_(78367298_?)dup	AFMID, BIRC5 +29 more	Duplication	Idiopathic generalized epilepsy	GUncertain significance
Select item 3242140	NM_001256071.3(RNF213):c.1271+7G>A	RNF213	Single nucleotide variant (intron variant)	Moyamoya disease 2	GUncertain significance
Select item 3242122	NM_001256071.3(RNF213):c.65G>A (p.Gly22Glu)	RNF213 (G22E)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 3233856	NM_001256071.3(RNF213):c.7047C>A (p.Asp2349Glu)	RNF213 (D2349E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068957	NM_001256071.3(RNF213):c.1820C>T (p.Thr607Met)	RNF213 (T607M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068956	NM_001256071.3(RNF213):c.7762G>A (p.Val2588Ile)	RNF213 (V2588I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068955	NM_001256071.3(RNF213):c.1149C>G (p.Phe383Leu)	RNF213 (F383L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068954	NM_001256071.3(RNF213):c.2196A>G (p.Glu732=)	RNF213	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3068953	NM_001256071.3(RNF213):c.12637C>T (p.Arg4213Trp)	LOC126862663, RNF213 +1 more (R4213W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065263	NM_001256071.3(RNF213):c.11465G>C (p.Arg3822Thr)	RNF213, RNF213-AS1 (R3822T +1 more)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 3065130	NM_001256071.3(RNF213):c.13641-2A>G	RNF213, RNF213-AS1	Single nucleotide variant (splice acceptor variant)	Moyamoya disease 2	GLikely pathogenic
Select item 3054166	NM_001256071.3(RNF213):c.10185-5_10185-2del	RNF213	Deletion (splice acceptor variant)	RNF213-related disorder	GLikely benign
Select item 3053637	NM_001256071.3(RNF213):c.3006C>T (p.Ala1002=)	RNF213	Single nucleotide variant (synonymous variant)	RNF213-related disorder	GLikely benign
Select item 3052151	NM_001256071.3(RNF213):c.183G>A (p.Pro61=)	RNF213	Single nucleotide variant (synonymous variant)	RNF213-related disorder	GLikely benign
Select item 3047706	NM_001256071.3(RNF213):c.6843G>A (p.Met2281Ile)	RNF213 (M2281I +1 more)	Single nucleotide variant (missense variant)	RNF213-related disorder	GUncertain significance
Select item 3047338	NM_001256071.3(RNF213):c.7761C>T (p.Asp2587=)	RNF213	Single nucleotide variant (synonymous variant)	RNF213-related disorder	GLikely benign
Select item 3047106	NM_001256071.3(RNF213):c.14763C>T (p.Ile4921=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	RNF213-related disorder	GLikely benign
Select item 3047004	NM_001256071.3(RNF213):c.3498C>T (p.Asn1166=)	RNF213	Single nucleotide variant (synonymous variant)	RNF213-related disorder	GLikely benign
Select item 3046565	NM_001256071.3(RNF213):c.7656G>A (p.Thr2552=)	RNF213	Single nucleotide variant (synonymous variant)	RNF213-related disorder	GLikely benign
Select item 3046414	NM_001256071.3(RNF213):c.4982C>T (p.Thr1661Met)	RNF213 (T1661M +1 more)	Single nucleotide variant (missense variant)	RNF213-related disorder	GLikely benign
Select item 3044717	NM_001256071.3(RNF213):c.15189G>A (p.Val5063=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	RNF213-related disorder	GLikely benign
Select item 3044502	NM_001256071.3(RNF213):c.12537G>A (p.Glu4179=)	LOC126862663, RNF213 +1 more	Single nucleotide variant (synonymous variant)	RNF213-related disorder	GLikely benign
Select item 3043071	NM_001256071.3(RNF213):c.957C>T (p.Asp319=)	RNF213	Single nucleotide variant (synonymous variant)	RNF213-related disorder	GLikely benign
Select item 3043038	NM_001256071.3(RNF213):c.9834C>T (p.Phe3278=)	RNF213	Single nucleotide variant (synonymous variant)	RNF213-related disorder	GLikely benign
Select item 3041120	NM_001256071.3(RNF213):c.14739C>T (p.Ala4913=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	RNF213-related disorder	GLikely benign
Select item 3040541	NM_001256071.3(RNF213):c.7419C>T (p.Ala2473=)	RNF213	Single nucleotide variant (synonymous variant)	RNF213-related disorder	GLikely benign
Select item 3039979	NM_001256071.3(RNF213):c.9984C>T (p.His3328=)	RNF213	Single nucleotide variant (synonymous variant)	RNF213-related disorder	GLikely benign
Select item 3038972	NM_001256071.3(RNF213):c.8181G>A (p.Arg2727=)	RNF213	Single nucleotide variant (synonymous variant)	RNF213-related disorder	GLikely benign
Select item 3034372	NM_001256071.3(RNF213):c.2616C>T (p.Ala872=)	RNF213	Single nucleotide variant (synonymous variant)	RNF213-related disorder	GLikely benign
Select item 3033596	NM_001256071.3(RNF213):c.9504G>A (p.Arg3168=)	RNF213	Single nucleotide variant (synonymous variant)	RNF213-related disorder	GLikely benign
Select item 3032506	NM_001256071.3(RNF213):c.11482T>A (p.Phe3828Ile)	RNF213, RNF213-AS1 (F3828I +1 more)	Single nucleotide variant (missense variant)	RNF213-related disorder	GUncertain significance
Select item 3031895	NM_001256071.3(RNF213):c.6609dup (p.His2204fs)	RNF213 (H2204fs +1 more)	Duplication (frameshift variant)	RNF213-related disorder	GUncertain significance
Select item 3030867	NM_001256071.3(RNF213):c.5321T>G (p.Leu1774Arg)	RNF213 (L1774R +1 more)	Single nucleotide variant (missense variant)	RNF213-related disorder	GUncertain significance
Select item 3030730	NM_001256071.3(RNF213):c.11340G>A (p.Thr3780=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	RNF213-related disorder	GLikely benign
Select item 3024679	NM_001256071.3(RNF213):c.9716C>T (p.Pro3239Leu)	RNF213 (P3239L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3022626	NM_001256071.3(RNF213):c.11568+15C>T	RNF213, RNF213-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3022257	NM_001256071.3(RNF213):c.3367+14C>T	RNF213	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022234	NM_001256071.3(RNF213):c.9952-14del	RNF213	Deletion (intron variant)	not provided	GBenign
Select item 3021288	NM_001256071.3(RNF213):c.12751+18T>C	LOC126862663, RNF213 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3020719	NM_001256071.3(RNF213):c.14601G>A (p.Glu4867=)	LOC126862664, RNF213 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020332	NM_001256071.3(RNF213):c.6183+19C>T	RNF213	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3018513	NM_001256071.3(RNF213):c.4107C>T (p.Asn1369=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017849	NM_001256071.3(RNF213):c.7856T>C (p.Leu2619Pro)	RNF213 (L2619P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014976	NM_001256071.3(RNF213):c.63C>T (p.Cys21=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010231	NM_001256071.3(RNF213):c.644G>T (p.Gly215Val)	RNF213 (G215V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3002550	NM_001256071.3(RNF213):c.6311C>G (p.Thr2104Arg)	RNF213 (T2104R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3002146	NM_001256071.3(RNF213):c.5717G>A (p.Arg1906His)	RNF213 (R1906H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994813	NM_001256071.3(RNF213):c.9993A>G (p.Glu3331=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993358	NM_001256071.3(RNF213):c.278G>A (p.Arg93Lys)	RNF213 (R142K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2991227	NM_001256071.3(RNF213):c.13039G>A (p.Glu4347Lys)	RNF213, RNF213-AS1 (E4347K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989976	NM_001256071.3(RNF213):c.631_632delinsGT (p.Ser211Val)	RNF213 (S260V +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2987160	NM_001256071.3(RNF213):c.14832C>T (p.Gly4944=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987024	NM_001256071.3(RNF213):c.10591G>A (p.Asp3531Asn)	RNF213, RNF213-AS1 (D3580N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2982932	NM_001256071.3(RNF213):c.2902-15C>G	RNF213	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978102	NM_001256071.3(RNF213):c.3097A>G (p.Ile1033Val)	RNF213 (I1033V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2977772	NM_001256071.3(RNF213):c.11054+12G>T	RNF213, RNF213-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973542	NM_001256071.3(RNF213):c.14872C>T (p.Arg4958Trp)	RNF213, RNF213-AS1 (R5007W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972799	NM_001256071.3(RNF213):c.2272T>C (p.Phe758Leu)	RNF213 (F758L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972040	NM_001256071.3(RNF213):c.2845G>A (p.Ala949Thr)	RNF213 (A998T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2971871	NM_001256071.3(RNF213):c.5294C>T (p.Pro1765Leu)	RNF213 (P1765L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971604	NM_001256071.3(RNF213):c.7870G>C (p.Gly2624Arg)	RNF213 (G2673R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969592	NM_001256071.3(RNF213):c.6184-19C>T	RNF213	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969308	NM_001256071.3(RNF213):c.4402G>A (p.Ala1468Thr)	RNF213 (A1468T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968377	NM_001256071.3(RNF213):c.4907C>T (p.Thr1636Met)	RNF213 (T1636M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966131	NM_001256071.3(RNF213):c.9917C>T (p.Thr3306Met)	RNF213 (T3355M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966010	NM_001256071.3(RNF213):c.15320C>T (p.Ala5107Val)	RNF213, RNF213-AS1 (A5107V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962769	NM_001256071.3(RNF213):c.2902-20C>T	RNF213	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962721	NM_001256071.3(RNF213):c.9168G>A (p.Gln3056=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961831	NM_001256071.3(RNF213):c.2501+18T>C	RNF213	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961735	NM_001256071.3(RNF213):c.817G>A (p.Asp273Asn)	RNF213 (D273N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958128	NM_001256071.3(RNF213):c.6184-15C>T	RNF213	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957072	NM_001256071.3(RNF213):c.4668+20C>T	RNF213	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2956811	NM_001256071.3(RNF213):c.98-20T>G	RNF213	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2956032	NM_001256071.3(RNF213):c.3897C>A (p.Thr1299=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955467	NM_001256071.3(RNF213):c.9701T>G (p.Ile3234Arg)	RNF213 (I3234R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2955436	NM_001256071.3(RNF213):c.9439C>T (p.Arg3147Cys)	RNF213 (R3196C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955306	NM_001256071.3(RNF213):c.8895T>C (p.Ala2965=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917618	NM_001256071.3(RNF213):c.5935G>A (p.Val1979Met)	RNF213 (V1979M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2916659	NM_001256071.3(RNF213):c.11893G>A (p.Val3965Met)	RNF213, RNF213-AS1 (V3965M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2916234	NM_001256071.3(RNF213):c.9343G>A (p.Ala3115Thr)	RNF213 (A3164T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2914811	NM_001256071.3(RNF213):c.14540-8G>A	LOC126862664, RNF213 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912175	NM_001256071.3(RNF213):c.4281C>T (p.Phe1427=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907643	NM_001256071.3(RNF213):c.13665C>T (p.Thr4555=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906702	NM_001256071.3(RNF213):c.13691G>A (p.Arg4564Gln)	RNF213, RNF213-AS1 (R4613Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904532	NM_001256071.3(RNF213):c.7191C>T (p.Thr2397=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903817	NM_001256071.3(RNF213):c.9657C>T (p.Ile3219=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902873	NM_001256071.3(RNF213):c.10676G>A (p.Arg3559Gln)	RNF213, RNF213-AS1 (R3608Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2899384	NM_001256071.3(RNF213):c.10496TGGCAGAGG[1] (p.3499VAE[1])	RNF213, RNF213-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2898802	NM_001256071.3(RNF213):c.11571C>T (p.Thr3857=)	RNF213-AS1, RNF213	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897282	NM_001256071.3(RNF213):c.2119C>T (p.Arg707Trp)	RNF213 (R756W +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2893869	NM_001256071.3(RNF213):c.11778C>T (p.Thr3926=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2890236	NM_001256071.3(RNF213):c.12148G>A (p.Ala4050Thr)	RNF213, RNF213-AS1 (A4099T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2889890	NM_001256071.3(RNF213):c.6407A>G (p.Lys2136Arg)	RNF213 (K2136R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888489	NM_001256071.3(RNF213):c.10851G>A (p.Ala3617=)	RNF213, RNF213-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2887113	NM_001256071.3(RNF213):c.9360C>T (p.Tyr3120=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887051	NM_001256071.3(RNF213):c.9848T>C (p.Leu3283Pro)	RNF213 (L3283P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2886051	NM_001256071.3(RNF213):c.6615C>T (p.Cys2205=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884077	NM_001256071.3(RNF213):c.10403C>T (p.Ala3468Val)	RNF213, RNF213-AS1 (A3468V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2882059	NM_001256071.3(RNF213):c.4753G>A (p.Val1585Met)	RNF213 (V1634M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879707	NM_001256071.3(RNF213):c.3574A>T (p.Asn1192Tyr)	RNF213 (N1192Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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