ClinVar for Gene (Select 10102) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3347445	NM_005726.6(TSFM):c.366C>G (p.Asn122Lys)	TSFM (N122K)	Single nucleotide variant (missense variant)	TSFM-related disorder	GUncertain significance
Select item 3333921	NM_006576.4(AVIL):c.2342A>T (p.Lys781Met)	AVIL, TSFM (K781M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244363	NC_000012.11:g.(?_58176585)_(58180965_?)del	TSFM	Deletion	not provided	GPathogenic
Select item 3244362	NC_000012.11:g.(?_58189940)_(58190366_?)del	TSFM	Deletion	not provided	GPathogenic
Select item 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	SDR9C7, TSPAN31 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
Select item 3240662	NM_005726.6(TSFM):c.559_560delinsA (p.Ala187fs)	TSFM (A187fs +1 more)	Indel (frameshift variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GLikely pathogenic
Select item 3240661	NM_005726.6(TSFM):c.58-2A>G	TSFM	Single nucleotide variant (splice acceptor variant)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GLikely pathogenic
Select item 3234599	NM_006576.4(AVIL):c.2413C>T (p.Pro805Ser)	AVIL, TSFM (P805S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3183608	NM_005726.6(TSFM):c.743A>T (p.Asn248Ile)	TSFM (N269I +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3183606	NM_005726.6(TSFM):c.250A>G (p.Lys84Glu)	TSFM (K84E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183605	NM_005726.6(TSFM):c.17C>T (p.Ser6Leu)	TSFM (S6L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132394	NM_006576.4(AVIL):c.2322G>C (p.Glu774Asp)	AVIL, TSFM (E774D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132393	NM_006576.4(AVIL):c.2188G>C (p.Gly730Arg)	AVIL, TSFM (G730R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132392	NM_006576.4(AVIL):c.2011G>A (p.Ala671Thr)	AVIL, TSFM (A671T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132391	NM_006576.4(AVIL):c.2009G>C (p.Ser670Thr)	AVIL, TSFM (S670T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3054986	NM_006576.4(AVIL):c.2239C>T (p.Leu747Phe)	AVIL, TSFM (L747F)	Single nucleotide variant (missense variant +1 more)	AVIL-related disorder	GLikely benign
Select item 3054530	NM_006576.4(AVIL):c.1999G>A (p.Glu667Lys)	AVIL, TSFM (E667K)	Single nucleotide variant (missense variant +1 more)	AVIL-related disorder	GUncertain significance
Select item 3050431	NM_006576.4(AVIL):c.2037G>A (p.Leu679=)	AVIL, TSFM	Single nucleotide variant (synonymous variant +1 more)	AVIL-related disorder	GLikely benign
Select item 3049077	NM_006576.4(AVIL):c.2292G>A (p.Leu764=)	AVIL, TSFM	Single nucleotide variant (synonymous variant +1 more)	AVIL-related disorder	GLikely benign
Select item 3036171	NM_006576.4(AVIL):c.2412G>A (p.Leu804=)	AVIL, TSFM	Single nucleotide variant (synonymous variant +1 more)	AVIL-related disorder	GLikely benign
Select item 3034124	NM_001172697.2(TSFM):c.591A>T (p.Gly197=)	AVIL, TSFM	Single nucleotide variant (synonymous variant +1 more)	TSFM-related disorder	GLikely benign
Select item 3028934	NM_006576.4(AVIL):c.1963-7_1963-6insTG	AVIL, TSFM	Insertion (intron variant)	AVIL-related disorder	GLikely benign
Select item 3017558	NM_005726.6(TSFM):c.542C>A (p.Ser181Ter)	TSFM (S202* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3011576	NM_005726.6(TSFM):c.189T>C (p.Asn63=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010701	NM_005726.6(TSFM):c.57+8G>A	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009216	NM_005726.6(TSFM):c.360+14A>G	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008298	NM_005726.6(TSFM):c.360+12G>A	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002620	NM_005726.6(TSFM):c.57+13G>C	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000604	NM_005726.6(TSFM):c.484-4T>G	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000027	NM_005726.6(TSFM):c.9G>T (p.Leu3=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995001	NM_005726.6(TSFM):c.231+14G>T	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994847	NM_005726.6(TSFM):c.360+19del	TSFM	Deletion (intron variant)	not provided	GLikely benign
Select item 2989620	NM_005726.6(TSFM):c.716del (p.Ile239fs)	TSFM (I260fs +1 more)	Deletion (3 prime UTR variant +2 more)	not provided	GPathogenic
Select item 2986233	NM_005726.6(TSFM):c.360+15A>C	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985010	NM_005726.6(TSFM):c.483+11G>A	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983416	NM_005726.6(TSFM):c.561T>A (p.Ala187=)	TSFM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2973336	NM_005726.6(TSFM):c.69T>G (p.Leu23=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965677	NM_005726.6(TSFM):c.58-15_58-12del	TSFM	Deletion (intron variant)	not provided	GLikely benign
Select item 2955570	NM_005726.6(TSFM):c.36C>T (p.Val12=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907092	NM_005726.6(TSFM):c.361-13T>C	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901434	NM_005726.6(TSFM):c.572-16G>A	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900227	NM_005726.6(TSFM):c.484-14C>A	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900148	NM_005726.6(TSFM):c.483+18C>A	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893135	NM_005726.6(TSFM):c.58-9C>T	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2886331	NM_005726.6(TSFM):c.908_909insT (p.Gln303fs)	TSFM (Q324fs +1 more)	Insertion (3 prime UTR variant +2 more)	not provided	GPathogenic
Select item 2874261	NM_005726.6(TSFM):c.675A>T (p.Ser225=)	TSFM	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2873728	NM_005726.6(TSFM):c.951A>G (p.Glu317=)	TSFM	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2872155	NM_005726.6(TSFM):c.361-18A>G	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871309	NM_005726.6(TSFM):c.231+12G>A	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870229	NM_005726.6(TSFM):c.204G>A (p.Leu68=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869808	NM_005726.6(TSFM):c.972T>A (p.Thr324=)	TSFM	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2867743	NM_005726.6(TSFM):c.486T>A (p.Gly162=)	TSFM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2865814	NM_005726.6(TSFM):c.42G>T (p.Arg14=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861077	NM_005726.6(TSFM):c.573A>G (p.Gly191=)	TSFM (E162G)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2860601	NM_005726.6(TSFM):c.42G>A (p.Arg14=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860457	NM_005726.6(TSFM):c.21G>T (p.Leu7=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860376	NM_005726.6(TSFM):c.201T>C (p.Ala67=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859229	NM_005726.6(TSFM):c.444T>C (p.His148=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856520	NM_005726.6(TSFM):c.484-14C>T	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847120	NM_005726.6(TSFM):c.291C>G (p.Leu97=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2846234	NM_005726.6(TSFM):c.780G>A (p.Val260=)	TSFM	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2845459	NM_005726.6(TSFM):c.99A>G (p.Thr33=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836942	NM_005726.6(TSFM):c.58-4C>G	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835652	NM_005726.6(TSFM):c.231+17_231+37del	TSFM	Deletion (intron variant)	not provided	GLikely benign
Select item 2835651	NM_005726.6(TSFM):c.231+12G>C	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2834696	NM_005726.6(TSFM):c.571+17G>A	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833928	NM_005726.6(TSFM):c.922del (p.Val307_Val308insTer)	TSFM	Deletion (3 prime UTR variant +2 more)	not provided	GPathogenic
Select item 2832673	NM_005726.6(TSFM):c.572-8T>G	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2830008	NM_005726.6(TSFM):c.672C>T (p.Pro224=)	TSFM	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2828364	NM_005726.6(TSFM):c.58-4C>A	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2827195	NM_005726.6(TSFM):c.232-13T>C	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819155	NM_005726.6(TSFM):c.471T>A (p.Ser157=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815339	NM_005726.6(TSFM):c.571+16G>C	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2812964	NM_005726.6(TSFM):c.232-14del	TSFM	Deletion (intron variant)	not provided	GLikely benign
Select item 2806699	NM_005726.6(TSFM):c.119dup (p.Ser41fs)	TSFM (S41fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2802836	NM_005726.6(TSFM):c.6G>C (p.Ser2=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800847	NM_005726.6(TSFM):c.348T>G (p.Thr116=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796417	NM_005726.6(TSFM):c.414C>G (p.Val138=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784060	NM_005726.6(TSFM):c.759C>T (p.Gly253=)	TSFM	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2782581	NM_005726.6(TSFM):c.57+20G>T	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2772913	NM_005726.6(TSFM):c.417G>A (p.Gln139=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2768235	NM_005726.6(TSFM):c.598A>T (p.Lys200Ter)	TSFM (K200* +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GPathogenic
Select item 2765682	NM_005726.6(TSFM):c.531C>T (p.Asp177=)	TSFM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2765513	NM_005726.6(TSFM):c.57+6_57+7insCTC	TSFM	Insertion (intron variant)	not provided	GLikely benign
Select item 2762371	NM_005726.6(TSFM):c.483+1G>A	TSFM	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2760842	NM_005726.6(TSFM):c.84C>A (p.Pro28=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2760736	NM_005726.6(TSFM):c.285C>G (p.Ala95=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2755976	NM_005726.6(TSFM):c.374_375del (p.Thr125fs)	TSFM (T125fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2755153	NM_005726.6(TSFM):c.624A>T (p.Pro208=)	TSFM	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2753031	NM_005726.6(TSFM):c.483+9G>C	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2751270	NM_005726.6(TSFM):c.361-20A>G	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2750984	NM_005726.6(TSFM):c.361-8T>A	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2740235	NM_005726.6(TSFM):c.123T>C (p.Ser41=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2739904	NM_005726.6(TSFM):c.927C>T (p.Asp309=)	TSFM	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2732013	NM_005726.6(TSFM):c.472_473dup (p.Tyr159fs)	TSFM (Y159fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2731957	NM_005726.6(TSFM):c.232-18T>G	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2723021	NM_005726.6(TSFM):c.360+17T>A	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2720341	NM_005726.6(TSFM):c.231+7G>A	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2714504	NM_005726.6(TSFM):c.108T>G (p.Ala36=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2699349	NM_005726.6(TSFM):c.350dup (p.Leu118fs)	TSFM (L118fs)	Duplication (frameshift variant)	not provided	GPathogenic

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