ClinVar for Gene (Select 92344) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357947	NM_152281.3(GORAB):c.381A>G (p.Pro127=)	GORAB	Single nucleotide variant (synonymous variant +2 more)	GORAB-related disorder	GLikely benign
Select item 3248025	NC_000001.10:g.(?_170501104)_(170508635_?)del	GORAB	Deletion	not provided	GPathogenic
Select item 3248024	NC_000001.10:g.(?_170501290)_(170511753_?)del	GORAB	Deletion	not provided	GPathogenic
Select item 3100992	NM_152281.3(GORAB):c.587A>G (p.Asp196Gly)	GORAB (D179G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3100991	NM_152281.3(GORAB):c.549G>A (p.Met183Ile)	GORAB (M183I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3100990	NM_152281.3(GORAB):c.496C>G (p.Leu166Val)	GORAB (L11V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3100989	NM_152281.3(GORAB):c.-39A>G	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3100988	NM_152281.3(GORAB):c.1103C>T (p.Ala368Val)	GORAB (A213V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3020836	NM_152281.3(GORAB):c.924G>A (p.Glu308=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3019368	NM_152281.3(GORAB):c.63T>C (p.Asp21=)	GORAB	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3019122	NM_152281.3(GORAB):c.690G>A (p.Glu230=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3018801	NM_152281.3(GORAB):c.999T>G (p.Ala333=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3017726	NM_152281.3(GORAB):c.62-16A>C	GORAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015423	NM_152281.3(GORAB):c.420-10T>C	GORAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014979	NM_152281.3(GORAB):c.795G>A (p.Lys265=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3013753	NM_152281.3(GORAB):c.69T>C (p.Phe23=)	GORAB	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3008986	NM_152281.3(GORAB):c.942G>A (p.Ala314=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3008949	NM_152281.3(GORAB):c.138G>A (p.Glu46=)	GORAB	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3007435	NM_152281.3(GORAB):c.662+10G>A	GORAB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3007397	NM_152281.3(GORAB):c.990A>G (p.Gln330=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3003428	NM_152281.3(GORAB):c.450A>G (p.Gln150=)	GORAB	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3002382	NM_152281.3(GORAB):c.522-19C>T	GORAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999811	NM_152281.3(GORAB):c.375A>G (p.Leu125=)	GORAB	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2998788	NM_152281.3(GORAB):c.1053T>C (p.Leu351=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2994086	NM_152281.3(GORAB):c.108A>G (p.Gln36=)	GORAB	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2993903	NM_152281.3(GORAB):c.210del (p.Lys70fs)	GORAB (K70fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2991414	NM_152281.3(GORAB):c.222C>T (p.Asn74=)	GORAB	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2991112	NM_152281.3(GORAB):c.282C>A (p.Pro94=)	GORAB	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2988505	NM_152281.3(GORAB):c.843G>A (p.Glu281=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2986296	NM_152281.3(GORAB):c.420-6C>T	GORAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986048	NM_152281.3(GORAB):c.420-20A>T	GORAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980247	NM_152281.3(GORAB):c.808T>C (p.Leu270=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2976935	NM_152281.3(GORAB):c.495T>C (p.Ala165=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2975488	NM_152281.3(GORAB):c.62-12T>G	GORAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974541	NM_152281.3(GORAB):c.62-4A>G	GORAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972406	NM_152281.3(GORAB):c.663-4A>G	GORAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965127	NM_152281.3(GORAB):c.93G>A (p.Ala31=)	GORAB	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2962426	NM_152281.3(GORAB):c.521+18G>A	GORAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961072	NM_152281.3(GORAB):c.726T>A (p.Thr242=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2960119	NM_152281.3(GORAB):c.419+13A>G	GORAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959941	NM_152281.3(GORAB):c.61+17A>G	GORAB, GORAB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958872	NM_152281.3(GORAB):c.744_747del (p.Thr249fs)	GORAB (T232fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2958366	NM_152281.3(GORAB):c.930A>G (p.Pro310=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2955677	NM_152281.3(GORAB):c.1047C>G (p.Pro349=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2914500	NM_152281.3(GORAB):c.-13G>A	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2903008	NM_152281.3(GORAB):c.419+10T>C	GORAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900731	NM_152281.3(GORAB):c.521+9C>T	GORAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894992	NM_152281.3(GORAB):c.993A>G (p.Glu331=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2887611	NM_152281.3(GORAB):c.762G>A (p.Thr254=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2886885	NM_152281.3(GORAB):c.483del (p.Lys161fs)	GORAB (K6fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2876471	NM_152281.3(GORAB):c.1014A>G (p.Val338=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2873073	NM_152281.3(GORAB):c.738G>A (p.Glu246=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2872040	NM_152281.3(GORAB):c.216_217del (p.Arg72fs)	GORAB (R55fs +1 more)	Microsatellite (frameshift variant +2 more)	not provided	GPathogenic
Select item 2870446	NM_152281.3(GORAB):c.930A>C (p.Pro310=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2870262	NM_152281.3(GORAB):c.409A>T (p.Lys137Ter)	GORAB (K120* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2868671	NM_152281.3(GORAB):c.420-10dup	GORAB	Duplication (intron variant)	not provided	GBenign
Select item 2866896	NM_152281.3(GORAB):c.877C>T (p.Leu293=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2861754	NM_152281.3(GORAB):c.521+7C>A	GORAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860715	NM_152281.3(GORAB):c.309T>C (p.Ile103=)	GORAB	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2859165	NM_152281.3(GORAB):c.603T>A (p.Ala201=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2858694	NM_152281.3(GORAB):c.663-5T>G	GORAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856333	NM_152281.3(GORAB):c.1041C>T (p.Ser347=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2855813	NM_152281.3(GORAB):c.603T>C (p.Ala201=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2854288	NM_152281.3(GORAB):c.357C>T (p.His119=)	GORAB	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2853476	NM_152281.3(GORAB):c.135A>G (p.Val45=)	GORAB	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2851630	NM_152281.3(GORAB):c.561G>A (p.Arg187=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2847742	NM_152281.3(GORAB):c.420-20del	GORAB	Deletion (intron variant)	not provided	GLikely benign
Select item 2846578	NM_152281.3(GORAB):c.62-11C>T	GORAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846202	NM_152281.3(GORAB):c.516A>C (p.Ala172=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2842892	NM_152281.3(GORAB):c.669G>A (p.Arg223=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2840751	NM_152281.3(GORAB):c.53del (p.Gln18fs)	GORAB, GORAB-AS1 (Q18fs)	Deletion (frameshift variant +3 more)	not provided	GPathogenic
Select item 2840376	NM_152281.3(GORAB):c.798G>A (p.Lys266=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2835584	NM_152281.3(GORAB):c.120A>T (p.Arg40=)	GORAB	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2835552	NM_152281.3(GORAB):c.62-20C>T	GORAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832836	NM_152281.3(GORAB):c.825T>C (p.Asp275=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2832462	NM_152281.3(GORAB):c.14G>A (p.Trp5Ter)	GORAB, GORAB-AS1 (W5*)	Single nucleotide variant (nonsense +3 more)	not provided	GPathogenic
Select item 2830611	NM_152281.3(GORAB):c.61+1G>A	GORAB, GORAB-AS1	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 2826473	NM_152281.3(GORAB):c.-11G>A	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2825746	NM_152281.3(GORAB):c.328C>T (p.Leu110=)	GORAB	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2819820	NM_152281.3(GORAB):c.696T>C (p.Ile232=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2817885	NM_152281.3(GORAB):c.747T>C (p.Thr249=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2816721	NM_152281.3(GORAB):c.139C>T (p.Gln47Ter)	GORAB (Q30* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2810129	NM_152281.3(GORAB):c.753C>T (p.His251=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2805458	NM_152281.3(GORAB):c.62-11_62-9del	GORAB	Deletion (intron variant)	not provided	GLikely benign
Select item 2798658	NM_152281.3(GORAB):c.132T>C (p.Leu44=)	GORAB	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2796754	NM_152281.3(GORAB):c.771G>A (p.Gln257=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2794765	NM_152281.3(GORAB):c.62-16A>G	GORAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793787	NM_152281.3(GORAB):c.828A>G (p.Val276=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2793032	NM_152281.3(GORAB):c.678G>A (p.Arg226=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2792725	NC_000001.11:g.170532158_170532179dup	GORAB, GORAB-AS1	Duplication	not provided	GPathogenic
Select item 2792086	NM_152281.3(GORAB):c.522-5dup	GORAB	Duplication (intron variant)	not provided	GBenign
Select item 2791339	NM_152281.3(GORAB):c.206dup (p.Gln71fs)	GORAB (Q54fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 2788092	NM_152281.3(GORAB):c.573G>A (p.Glu191=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2785053	NM_152281.3(GORAB):c.711T>C (p.Asp237=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2782780	NM_152281.3(GORAB):c.957A>G (p.Thr319=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2782380	NM_152281.3(GORAB):c.57T>C (p.Thr19=)	GORAB, GORAB-AS1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2779934	NC_000001.11:g.170532160A>T	GORAB, GORAB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779480	NM_152281.3(GORAB):c.61+8G>A	GORAB, GORAB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777051	NM_152281.3(GORAB):c.1053T>A (p.Leu351=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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