ClinVar for Gene (Select 51741) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063470	GRCh37/hg19 16q23.1(chr16:75947360-78217943)x3	ADAMTS18, CLEC3A +6 more	Copy number gain	not specified	GUncertain significance
Select item 3062161	GRCh38/hg38 16q23.1(chr16:78064581-78164300)x1	LOC132090427, LOC132090428 +3 more	Copy number loss	West syndrome	GPathogenic
Select item 3045224	NM_016373.4(WWOX):c.489A>G (p.Glu163=)	WWOX	Single nucleotide variant (synonymous variant +1 more)	WWOX-related condition	GLikely benign
Select item 3030077	NM_016373.4(WWOX):c.1018C>T (p.Leu340=)	WWOX (T184I)	Single nucleotide variant (missense variant +1 more)	WWOX-related condition	GLikely benign
Select item 3027301	NM_016373.4(WWOX):c.69G>A (p.Glu23=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3027259	NM_016373.4(WWOX):c.1039C>T (p.Pro347Ser)	WWOX (A191V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025376	NM_016373.4(WWOX):c.*162G>C	MAF, WWOX (E313Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 2690500	NM_016373.4(WWOX):c.553_566del (p.Ala185fs)	WWOX (A185fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2684820	GRCh37/hg19 16q23.1(chr16:77075284-78151019)x3	ADAMTS18, CLEC3A +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684818	GRCh37/hg19 16q23.1(chr16:76969076-78821137)x3	ADAMTS18, CLEC3A +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 2646889	NM_016373.4(WWOX):c.*134C>T	MAF, WWOX	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2646888	NM_016373.4(WWOX):c.*107G>A	WWOX, MAF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646887	NM_016373.4(WWOX):c.1122G>T (p.Met374Ile)	MAF, WWOX (M261I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646886	NM_016373.4(WWOX):c.507A>G (p.Leu169=)	WWOX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2629747	NM_016373.4(WWOX):c.409_409+14del	WWOX	Deletion (splice donor variant)	WWOX-related condition	GPathogenic
Select item 2579203	GRCh38/hg38 16q23.1(chr16:78330637-78461650)x0	LOC112486209, LOC132090435 +1 more	Copy number loss	Developmental and epileptic encephalopathy, 28	GUncertain significance
Select item 2579165	GRCh38/hg38 16q23.1(chr16:78099236-78100272)x0	WWOX	Copy number loss	Developmental and epileptic encephalopathy, 28	GPathogenic
Select item 2578769	NM_016373.4(WWOX):c.*46C>T	MAF, WWOX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2575658	NM_016373.4(WWOX):c.700C>A (p.Leu234Met)	WWOX (L121M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573587	NC_000016.9:g.(78198187_78420756)_(78420846_78458766)del	WWOX	Deletion	Early Infantile Epileptic Encephalopathy, Autosomal Recessive	GPathogenic
Select item 2550521	NM_016373.4(WWOX):c.323A>T (p.Asp108Val)	WWOX (D108V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2539188	NM_016373.4(WWOX):c.680C>G (p.Thr227Ser)	WWOX (T114S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537790	NM_016373.4(WWOX):c.1043T>C (p.Phe348Ser)	WWOX (F235S +1 more)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance

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