ClinVar for MedGen (Select 482082) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954523	NM_016373.4(WWOX):c.912C>G (p.Ser304=)	WWOX (P148R)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2954193	NM_016373.4(WWOX):c.517-6T>C	WWOX	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2953490	NM_016373.4(WWOX):c.516+16T>C	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2952954	NM_016373.4(WWOX):c.605+18G>A	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2951632	NM_016373.4(WWOX):c.306C>T (p.Thr102=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2951609	NM_016373.4(WWOX):c.252C>T (p.Thr84=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2951354	NM_016373.4(WWOX):c.107+12G>C	WWOX	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2951080	NM_016373.4(WWOX):c.427_478dup (p.Arg160fs)	WWOX (R160fs +1 more)	Duplication (frameshift variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GPathogenic
Select item 2950692	NM_016373.4(WWOX):c.954G>C (p.Ser318=)	WWOX (E162Q)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2950691	NM_016373.4(WWOX):c.813C>G (p.Ser271=)	WWOX (P115R)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2950420	NM_016373.4(WWOX):c.107+10C>G	WWOX	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2950021	NM_016373.4(WWOX):c.231-10T>C	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2949492	NM_016373.4(WWOX):c.172+17C>G	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2949310	NM_016373.4(WWOX):c.605+7G>C	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2947087	NM_016373.4(WWOX):c.477A>T (p.Ala159=)	WWOX	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2946373	NM_016373.4(WWOX):c.1130A>G (p.Asn377Ser)	WWOX, MAF (N264S +1 more)	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 2946251	NM_016373.4(WWOX):c.605+9T>G	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2946225	NM_016373.4(WWOX):c.410-15T>A	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2946101	NM_016373.4(WWOX):c.873G>A (p.Leu291=)	WWOX (W135*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2945544	NM_016373.4(WWOX):c.717T>A (p.Leu239=)	WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2945483	NM_016373.4(WWOX):c.1230C>A (p.Gly410=)	MAF, WWOX (A254E)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2945067	NM_016373.4(WWOX):c.791+15C>T	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2944786	NM_016373.4(WWOX):c.102C>T (p.Tyr34=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2944492	NM_016373.4(WWOX):c.173-12C>G	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2944138	NM_016373.4(WWOX):c.658C>T (p.Leu220Phe)	WWOX (L107F +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 2942432	NM_016373.4(WWOX):c.863G>A (p.Trp288Ter)	WWOX (G132R +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GPathogenic
Select item 2941467	NM_016373.4(WWOX):c.672C>G (p.Gly224=)	WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2940647	NM_016373.4(WWOX):c.1023G>C (p.Leu341=)	WWOX (V186L)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2940527	NM_016373.4(WWOX):c.779C>T (p.Ser260Leu)	WWOX (S147L +2 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 2940449	NM_016373.4(WWOX):c.1057-9G>C	MAF, WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2940299	NM_016373.4(WWOX):c.375A>G (p.Lys125=)	WWOX	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2940258	NM_016373.4(WWOX):c.107+1_107+2delinsTA	WWOX	Indel (non-coding transcript variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GPathogenic
Select item 2940147	NM_016373.4(WWOX):c.468G>A (p.Arg156=)	WWOX	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2939550	NM_016373.4(WWOX):c.1083C>T (p.Tyr361=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2939533	NM_016373.4(WWOX):c.1113G>A (p.Leu371=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2939498	NM_016373.4(WWOX):c.138T>C (p.His46=)	WWOX	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2939366	NM_016373.4(WWOX):c.605+2T>C	WWOX	Single nucleotide variant (splice donor variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely pathogenic
Select item 2939006	NM_016373.4(WWOX):c.564T>C (p.Arg188=)	WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2938913	NM_016373.4(WWOX):c.517-4G>A	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2938035	NM_016373.4(WWOX):c.791+15C>A	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2936752	NM_016373.4(WWOX):c.1057-14_1057-13insTCTC	MAF, WWOX	Insertion (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2936691	NM_016373.4(WWOX):c.933C>A (p.Leu311=)	WWOX (S155Y)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2936569	NM_016373.4(WWOX):c.231-17C>T	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2936367	NM_016373.4(WWOX):c.374A>G (p.Lys125Arg)	WWOX (K125R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 2936113	NM_016373.4(WWOX):c.813C>T (p.Ser271=)	WWOX (P115L)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2935671	NM_016373.4(WWOX):c.240T>C (p.Asn80=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2935487	NM_016373.4(WWOX):c.681C>T (p.Thr227=)	WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2934600	NM_016373.4(WWOX):c.173-4T>G	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2934306	NM_016373.4(WWOX):c.1189C>T (p.Leu397=)	MAF, WWOX (P241L)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2934279	NM_016373.4(WWOX):c.231-7T>C	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2934273	NM_016373.4(WWOX):c.172+15G>T	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2933633	NM_016373.4(WWOX):c.825G>T (p.Leu275=)	WWOX (W119L)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2932947	NM_016373.4(WWOX):c.360G>A (p.Arg120=)	WWOX	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2932694	NM_016373.4(WWOX):c.107+10C>T	WWOX	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2932245	NM_016373.4(WWOX):c.924C>T (p.His308=)	WWOX (T152I)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2932169	NM_016373.4(WWOX):c.1057-7T>C	MAF, WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2931572	NM_016373.4(WWOX):c.517-10C>T	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2931344	NM_016373.4(WWOX):c.1057-13_1057-11del	MAF, WWOX	Microsatellite (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2930450	NM_016373.4(WWOX):c.108-12_108-6del	WWOX	Deletion (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2930283	NM_016373.4(WWOX):c.517-4G>C	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2930148	NM_016373.4(WWOX):c.63C>T (p.Gly21=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2930144	NM_016373.4(WWOX):c.409+8C>G	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2930082	NM_016373.4(WWOX):c.516+12A>G	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2930043	NM_016373.4(WWOX):c.459G>A (p.Leu153=)	WWOX	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2928241	NM_016373.4(WWOX):c.605+13G>A	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2928028	NM_016373.4(WWOX):c.1056+7_1056+9del	WWOX	Deletion (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2927038	NM_016373.4(WWOX):c.108-14T>C	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2926959	NM_016373.4(WWOX):c.792-16A>G	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2926816	NM_016373.4(WWOX):c.495G>C (p.Val165=)	WWOX	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2926732	NM_016373.4(WWOX):c.1236G>A (p.Gln412=)	MAF, WWOX (S256N)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2926304	NM_016373.4(WWOX):c.333C>T (p.Thr111=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2923854	NM_016373.4(WWOX):c.9G>A (p.Ala3=)	WWOX	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2923234	NM_016373.4(WWOX):c.969T>C (p.Pro323=)	WWOX (W168R)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2923136	NM_016373.4(WWOX):c.173-14T>G	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2922719	NM_016373.4(WWOX):c.993T>A (p.Ile331=)	WWOX (S176T)	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2922639	NM_016373.4(WWOX):c.498A>G (p.Ser166=)	WWOX	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2426304	NC_000016.9:g.(?_78133676)_(78466669_?)dup	WWOX	Duplication	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2426303	NC_000016.9:g.(?_78420737)_(78458972_?)del	WWOX	Deletion	Developmental and epileptic encephalopathy, 1 +1 more	GPathogenic
Select item 2426302	NC_000016.9:g.(?_78133676)_(78420865_?)dup	WWOX	Duplication	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2426301	NC_000016.9:g.(?_78148853)_(78198206_?)del	WWOX	Deletion	Developmental and epileptic encephalopathy, 1 +1 more	GPathogenic
Select item 2426300	NC_000016.9:g.(?_78148853)_(78149071_?)del	WWOX	Deletion	Autosomal recessive spinocerebellar ataxia 12 +1 more	GPathogenic
Select item 2426299	NC_000016.9:g.(?_78133676)_(79633799_?)del	MAF, WWOX	Deletion	Developmental and epileptic encephalopathy, 1 +1 more	GPathogenic
Select item 2417897	NM_016373.4(WWOX):c.1055T>C (p.Met352Thr)	WWOX (M239T +1 more)	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2417031	NM_016373.4(WWOX):c.82A>G (p.Lys28Glu)	WWOX (K28E)	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 2197039	NM_016373.4(WWOX):c.1183C>A (p.Arg395=)	MAF, WWOX (P239Q)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2196785	NM_016373.4(WWOX):c.891G>A (p.Lys297=)	WWOX (S141N)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2195459	NM_016373.4(WWOX):c.921G>T (p.Leu307=)	WWOX (C151F)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2189682	NM_016373.4(WWOX):c.231-18G>T	WWOX	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2189387	NM_016373.4(WWOX):c.903C>T (p.Ile301=)	WWOX (S145F)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2187927	NM_016373.4(WWOX):c.107+17G>C	WWOX	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2183751	NM_016373.4(WWOX):c.791G>A (p.Arg264Gln)	WWOX (D108N +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 2183678	NM_016373.4(WWOX):c.1057-10G>C	MAF, WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2183651	NM_016373.4(WWOX):c.605+12A>T	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2183153	NM_016373.4(WWOX):c.588A>G (p.Ala196=)	WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2182661	NM_016373.4(WWOX):c.423C>G (p.Ala141=)	WWOX	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2181143	NM_016373.4(WWOX):c.761G>A (p.Arg254His)	WWOX (R141H +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 2173527	NM_016373.4(WWOX):c.972A>C (p.Gly324=)	WWOX (K169Q)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2172566	NM_016373.4(WWOX):c.107+13C>T	WWOX	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2170937	NM_016373.4(WWOX):c.803T>A (p.Ile268Asn)	WWOX (I155N +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 2164882	NM_016373.4(WWOX):c.1203C>G (p.Ser401Arg)	MAF, WWOX (S245R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance

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