ClinVar for Gene (Select 51010) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366785	NM_016042.4(EXOSC3):c.660dup (p.Val221fs)	EXOSC3 (V221fs)	Duplication (frameshift variant +1 more)	not specified	GUncertain significance
Select item 3366462	NM_016042.4(EXOSC3):c.797_798del (p.Lys266fs)	EXOSC3 (K266fs)	Deletion (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3352173	NM_016042.4(EXOSC3):c.87C>T (p.Leu29=)	EXOSC3	Single nucleotide variant (synonymous variant)	EXOSC3-related disorder	GLikely benign
Select item 3276838	NM_016042.4(EXOSC3):c.586G>A (p.Asp196Asn)	EXOSC3 (D196N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3276837	NM_016042.4(EXOSC3):c.497A>G (p.Gln166Arg)	EXOSC3 (Q166R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3276836	NM_016042.4(EXOSC3):c.5C>G (p.Ala2Gly)	EXOSC3 (A2G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276834	NM_016042.4(EXOSC3):c.590G>T (p.Gly197Val)	EXOSC3 (G197V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3242301	GRCh37/hg19 9p13.3-13.1(chr9:35495055-39184042)x1	ALDH1B1, ANKRD18A +45 more	Copy number loss	not provided	GPathogenic
Select item 3091195	NM_016042.4(EXOSC3):c.547A>G (p.Ser183Gly)	EXOSC3 (S183G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3091194	NM_016042.4(EXOSC3):c.340G>C (p.Gly114Arg)	EXOSC3 (G114R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091193	NM_016042.4(EXOSC3):c.218G>C (p.Arg73Pro)	EXOSC3 (R73P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091192	NM_016042.4(EXOSC3):c.13G>A (p.Ala5Thr)	EXOSC3 (A5T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075964	NM_016042.4(EXOSC3):c.112G>T (p.Glu38Ter)	EXOSC3 (E38*)	Single nucleotide variant (nonsense)	Pontoneocerebellar hypoplasia	GLikely pathogenic
Select item 3063115	GRCh37/hg19 9p13.3-13.1(chr9:35440393-38787480)x1	ALDH1B1, ANKRD18A +44 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3021518	NM_016042.4(EXOSC3):c.414A>G (p.Pro138=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 3020881	NM_016042.4(EXOSC3):c.702T>C (p.Asn234=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 3017596	NM_016042.4(EXOSC3):c.555A>G (p.Gly185=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 3016553	NM_016042.4(EXOSC3):c.279T>C (p.Ser93=)	EXOSC3, LOC130001814	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 3016443	NM_016042.4(EXOSC3):c.3G>A (p.Met1Ile)	EXOSC3 (M1I)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 1B	GPathogenic
Select item 3015020	NM_016042.4(EXOSC3):c.21C>A (p.Val7=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 3014226	NM_016042.4(EXOSC3):c.258C>T (p.Leu86=)	EXOSC3, LOC130001814	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 3008556	NM_016042.4(EXOSC3):c.675T>C (p.Tyr225=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 3003295	NM_016042.4(EXOSC3):c.167_174del (p.Asn56fs)	EXOSC3 (N56fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia type 1B	GPathogenic
Select item 2983189	NM_016042.4(EXOSC3):c.246G>A (p.Lys82=)	EXOSC3, LOC130001814	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2970968	NM_016042.4(EXOSC3):c.100C>T (p.Leu34=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2968535	NM_016042.4(EXOSC3):c.6C>A (p.Ala2=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2968029	NM_016042.4(EXOSC3):c.474+11G>C	EXOSC3	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2966938	NM_016042.4(EXOSC3):c.474+11del	EXOSC3	Deletion (intron variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2966554	NM_016042.4(EXOSC3):c.546C>T (p.Asp182=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2966415	NM_016042.4(EXOSC3):c.156G>A (p.Pro52=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2962841	NM_016042.4(EXOSC3):c.63C>T (p.Arg21=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2962578	NM_016042.4(EXOSC3):c.3G>T (p.Met1Ile)	EXOSC3 (M1I)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 1B	GPathogenic
Select item 2961068	NM_016042.4(EXOSC3):c.324+9G>T	EXOSC3	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2959174	NM_016042.4(EXOSC3):c.627-18C>A	EXOSC3	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2958688	NM_016042.4(EXOSC3):c.234G>C (p.Leu78=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2915019	NM_016042.4(EXOSC3):c.531G>A (p.Glu177=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2912712	NM_016042.4(EXOSC3):c.46A>C (p.Arg16=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2912064	NM_016042.4(EXOSC3):c.1A>T (p.Met1Leu)	EXOSC3 (M1L)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 1B	GPathogenic
Select item 2912062	NM_016042.4(EXOSC3):c.321G>A (p.Lys107=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2910696	NM_016042.4(EXOSC3):c.810C>T (p.Ser270=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GBenign
Select item 2909295	NM_016042.4(EXOSC3):c.21C>G (p.Val7=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2908810	NM_016042.4(EXOSC3):c.429C>T (p.Tyr143=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2908421	NM_016042.4(EXOSC3):c.297_298insG (p.Tyr100fs)	EXOSC3, LOC130001814 (Y100fs)	Insertion (frameshift variant)	Pontocerebellar hypoplasia type 1B	GPathogenic
Select item 2908394	NM_016042.4(EXOSC3):c.630A>G (p.Leu210=)	EXOSC3 (I160V)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2907815	NM_016042.4(EXOSC3):c.36C>T (p.Leu12=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2907468	NM_016042.4(EXOSC3):c.594G>C (p.Leu198=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2905548	NM_016042.4(EXOSC3):c.474+8C>T	EXOSC3	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2902172	NM_016042.4(EXOSC3):c.60A>G (p.Ala20=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2900103	NM_016042.4(EXOSC3):c.753A>C (p.Ala251=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2884832	NM_016042.4(EXOSC3):c.626+15C>G	EXOSC3	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2883557	NM_016042.4(EXOSC3):c.663G>A (p.Val221=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2873713	NM_016042.4(EXOSC3):c.226dup (p.Asp76fs)	EXOSC3 (D76fs)	Duplication (frameshift variant)	Pontocerebellar hypoplasia type 1B	GPathogenic/Likely pathogenic
Select item 2870537	NM_016042.4(EXOSC3):c.276C>T (p.Gly92=)	EXOSC3, LOC130001814	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2866577	NM_016042.4(EXOSC3):c.129del (p.Gly44fs)	EXOSC3 (G44fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia type 1B	GPathogenic
Select item 2865986	NM_016042.4(EXOSC3):c.537C>T (p.Val179=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2862808	NM_016042.4(EXOSC3):c.325-10C>G	EXOSC3	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2861407	NM_016042.4(EXOSC3):c.475-8del	EXOSC3	Deletion (intron variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2855937	NM_016042.4(EXOSC3):c.174_183del (p.Arg58fs)	EXOSC3 (R58fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia type 1B	GPathogenic
Select item 2855556	NM_016042.4(EXOSC3):c.366A>C (p.Thr122=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2848458	NM_016042.4(EXOSC3):c.642T>C (p.Asp214=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2846986	NM_016042.4(EXOSC3):c.444T>C (p.Gly148=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2844658	NM_016042.4(EXOSC3):c.417T>C (p.Ala139=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2843410	NM_016042.4(EXOSC3):c.325-1G>T	EXOSC3	Single nucleotide variant (splice acceptor variant)	Pontocerebellar hypoplasia type 1B	GLikely pathogenic
Select item 2840066	NM_016042.4(EXOSC3):c.797A>G (p.Lys266Arg)	EXOSC3 (K266R)	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 2838353	NM_016042.4(EXOSC3):c.51G>C (p.Ala17=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2830545	NM_016042.4(EXOSC3):c.825T>C (p.Ser275=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2829110	NM_016042.4(EXOSC3):c.180del (p.Ser61fs)	EXOSC3 (S61fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia type 1B	GPathogenic
Select item 2825398	NM_016042.4(EXOSC3):c.231C>T (p.Arg77=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2822756	NM_016042.4(EXOSC3):c.300C>T (p.Tyr100=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2822408	NM_016042.4(EXOSC3):c.126G>T (p.Ala42=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2821137	NM_016042.4(EXOSC3):c.325-20C>T	EXOSC3	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2820664	NM_016042.4(EXOSC3):c.423G>A (p.Leu141=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2819100	NM_016042.4(EXOSC3):c.475-6T>C	EXOSC3	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2810604	NM_016042.4(EXOSC3):c.69A>G (p.Val23=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2807474	NM_016042.4(EXOSC3):c.421T>C (p.Leu141=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2805903	NM_016042.4(EXOSC3):c.66A>C (p.Thr22=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2803117	NM_016042.4(EXOSC3):c.249C>T (p.Cys83=)	EXOSC3, LOC130001814	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2801797	NM_016042.4(EXOSC3):c.15G>T (p.Ala5=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2793975	NM_016042.4(EXOSC3):c.626+11A>G	EXOSC3	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2788412	NM_016042.4(EXOSC3):c.804C>T (p.Ile268=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2784114	NM_016042.4(EXOSC3):c.594G>A (p.Leu198=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2783961	NM_016042.4(EXOSC3):c.814T>C (p.Leu272=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GBenign
Select item 2776453	NM_016042.4(EXOSC3):c.474+9G>A	EXOSC3	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2771413	NM_016042.4(EXOSC3):c.1A>G (p.Met1Val)	EXOSC3 (M1V)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 1B	GPathogenic
Select item 2770925	NM_016042.4(EXOSC3):c.741T>C (p.Thr247=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2767586	NM_016042.4(EXOSC3):c.714G>A (p.Trp238Ter)	EXOSC3 (W238*)	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GPathogenic
Select item 2764185	NM_016042.4(EXOSC3):c.592C>T (p.Leu198=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2757620	NM_016042.4(EXOSC3):c.422del (p.Leu141fs)	EXOSC3 (L141fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia type 1B	GPathogenic
Select item 2757470	NM_016042.4(EXOSC3):c.816G>A (p.Leu272=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2747872	NM_016042.4(EXOSC3):c.474+14C>T	EXOSC3	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2741769	NM_016042.4(EXOSC3):c.6C>T (p.Ala2=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2735274	NM_016042.4(EXOSC3):c.551del (p.Cys184fs)	EXOSC3 (C184fs)	Deletion (frameshift variant +1 more)	Pontocerebellar hypoplasia type 1B	GPathogenic
Select item 2732960	NM_016042.4(EXOSC3):c.309C>T (p.Asp103=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2732014	NM_016042.4(EXOSC3):c.474+16T>C	EXOSC3	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2731843	NM_016042.4(EXOSC3):c.240C>T (p.Val80=)	EXOSC3, LOC130001814	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2726566	NM_016042.4(EXOSC3):c.475-8_475-6del	EXOSC3	Deletion (intron variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2724796	NM_016042.4(EXOSC3):c.579T>C (p.Ile193=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2723993	NM_016042.4(EXOSC3):c.582A>G (p.Gly194=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2723707	NM_016042.4(EXOSC3):c.396T>C (p.Asp132=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign

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