ClinVar for Gene (Select 10165) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359953	NM_014251.3(SLC25A13):c.70T>C (p.Tyr24His)	SLC25A13 (Y24H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3358528	NM_014251.3(SLC25A13):c.559A>G (p.Met187Val)	SLC25A13 (M187V)	Single nucleotide variant (missense variant +1 more)	SLC25A13-related disorder	GUncertain significance
Select item 3358523	NM_014251.3(SLC25A13):c.1140del (p.Val381fs)	SLC25A13 (V381fs +1 more)	Deletion (frameshift variant +1 more)	SLC25A13-related disorder	GLikely pathogenic
Select item 3354035	NM_014251.3(SLC25A13):c.1568T>C (p.Leu523Pro)	SLC25A13 (L523P +1 more)	Single nucleotide variant (missense variant +1 more)	SLC25A13-related disorder	GUncertain significance
Select item 3351060	NM_014251.3(SLC25A13):c.572G>A (p.Arg191His)	SLC25A13 (R191H)	Single nucleotide variant (missense variant +1 more)	SLC25A13-related disorder	GUncertain significance
Select item 3346024	NM_014251.3(SLC25A13):c.1311+2T>G	SLC25A13	Single nucleotide variant (splice donor variant)	SLC25A13-related disorder	GPathogenic
Select item 3346013	NM_014251.3(SLC25A13):c.849-6C>G	SLC25A13	Single nucleotide variant (intron variant)	SLC25A13-related disorder	GUncertain significance
Select item 3344826	NM_014251.3(SLC25A13):c.1789_1790del (p.Leu597fs)	SLC25A13 (L597fs +1 more)	Deletion (frameshift variant +1 more)	SLC25A13-related disorder	GLikely pathogenic
Select item 3344684	NM_014251.3(SLC25A13):c.1733T>C (p.Leu578Pro)	SLC25A13 (L578P +1 more)	Single nucleotide variant (missense variant +1 more)	SLC25A13-related disorder	GUncertain significance
Select item 3336478	NM_014251.3(SLC25A13):c.1793T>G (p.Leu598Arg)	SLC25A13 (L598R +1 more)	Single nucleotide variant (missense variant +1 more)	Citrullinemia type II	GPathogenic
Select item 3336130	NM_014251.3(SLC25A13):c.1018+3T>C	SLC25A13	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3245881	NC_000007.13:g.(?_95606804)_(95838309_?)del	DYNC1I1, SLC25A13	Deletion	not provided	GUncertain significance
Select item 3245774	NC_000007.13:g.(?_95864121)_(95868662_?)del	SLC25A13	Deletion	Citrin deficiency	GLikely pathogenic
Select item 3245773	NC_000007.13:g.(?_95906488)_(95906670_?)dup	SLC25A13	Duplication	Citrin deficiency	GLikely pathogenic
Select item 3245772	NC_000007.13:g.(?_95800764)_(95951268_?)del	SLC25A13	Deletion	Citrin deficiency	GPathogenic
Select item 3245771	NC_000007.13:g.(?_95813569)_(95951268_?)del	SLC25A13	Deletion	Citrin deficiency	GPathogenic
Select item 3245770	NC_000007.13:g.(?_95926190)_(95926283_?)del	SLC25A13	Deletion	Citrin deficiency	GPathogenic
Select item 3245769	NC_000007.13:g.(?_95775848)_(95776028_?)del	SLC25A13	Deletion	Citrin deficiency	GPathogenic
Select item 3245768	NC_000007.13:g.(?_95951234)_(95951268_?)del	SLC25A13	Deletion	Citrin deficiency	GPathogenic
Select item 3240481	NM_014251.3(SLC25A13):c.264del (p.Asp89fs)	SLC25A13 (D89fs)	Deletion (frameshift variant)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 3240480	NM_014251.3(SLC25A13):c.15+2_15+11del	LOC129998833, SLC25A13	Deletion (splice donor variant)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 3240479	NM_014251.3(SLC25A13):c.755-2A>G	SLC25A13	Single nucleotide variant (splice acceptor variant)	Citrullinemia, type II, adult-onset	GPathogenic
Select item 3240478	NM_014251.3(SLC25A13):c.1817G>A (p.Trp606Ter)	SLC25A13 (W606* +1 more)	Single nucleotide variant (nonsense +1 more)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 3240477	NM_014251.3(SLC25A13):c.72T>G (p.Tyr24Ter)	SLC25A13 (Y24*)	Single nucleotide variant (nonsense +1 more)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 3240476	NM_014251.3(SLC25A13):c.220del (p.Ser74fs)	SLC25A13 (S74fs)	Deletion (frameshift variant)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 3233849	NM_014251.3(SLC25A13):c.1763G>T (p.Arg588Leu)	SLC25A13 (R588L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163590	NM_014251.3(SLC25A13):c.777G>C (p.Gln259His)	SLC25A13 (Q259H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163589	NM_014251.3(SLC25A13):c.250G>T (p.Val84Phe)	SLC25A13 (V84F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163588	NM_014251.3(SLC25A13):c.1948A>G (p.Ile650Val)	SLC25A13 (I650V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3064539	NM_014251.3(SLC25A13):c.655T>C (p.Tyr219His)	SLC25A13 (Y219H)	Single nucleotide variant (missense variant +1 more)	Citrullinemia, type II, adult-onset	GUncertain significance
Select item 3061792	NM_014251.3(SLC25A13):c.1349A>G (p.Glu450Gly)	SLC25A13 (E450G +1 more)	Single nucleotide variant (missense variant +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency	GUncertain significance
Select item 3047814	NM_014251.3(SLC25A13):c.1657C>T (p.Arg553Trp)	SLC25A13 (R553W +1 more)	Single nucleotide variant (missense variant +1 more)	SLC25A13-related disorder	GUncertain significance
Select item 3044951	NM_014251.3(SLC25A13):c.1083A>C (p.Ser361=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	SLC25A13-related disorder	GLikely benign
Select item 3031677	NM_014251.3(SLC25A13):c.755-8C>A	SLC25A13	Single nucleotide variant (intron variant)	SLC25A13-related disorder	GLikely benign
Select item 3029640	NM_014251.3(SLC25A13):c.1544A>T (p.Asp515Val)	SLC25A13 (D515V +1 more)	Single nucleotide variant (missense variant +1 more)	SLC25A13-related disorder	GUncertain significance
Select item 3023474	NM_014251.3(SLC25A13):c.1841+19C>T	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 3022648	NM_014251.3(SLC25A13):c.328+7A>G	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 3021844	NM_014251.3(SLC25A13):c.934-11A>G	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 3021667	NM_014251.3(SLC25A13):c.42A>C (p.Pro14=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 3018592	NM_014251.3(SLC25A13):c.1178-1G>C	SLC25A13	Single nucleotide variant (splice acceptor variant)	Citrin deficiency	GLikely pathogenic
Select item 3018483	NM_014251.3(SLC25A13):c.934-16T>C	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 3016850	NM_014251.3(SLC25A13):c.1230+15T>G	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 3016801	NM_014251.3(SLC25A13):c.1841+17A>G	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 3015934	NM_014251.3(SLC25A13):c.469-19T>C	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 3015830	NM_014251.3(SLC25A13):c.1592-14T>C	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 3014789	NM_014251.3(SLC25A13):c.1572C>T (p.Leu524=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 3014259	NM_014251.3(SLC25A13):c.1750+16G>A	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 3014051	NM_014251.3(SLC25A13):c.1177+12A>G	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 3013891	NM_014251.3(SLC25A13):c.755-15T>G	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 3010499	NM_014251.3(SLC25A13):c.1019-7A>C	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 3009444	NM_014251.3(SLC25A13):c.1248G>A (p.Arg416=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 3007140	NM_014251.3(SLC25A13):c.15+8C>T	LOC129998833, SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 3005627	NM_014251.3(SLC25A13):c.16-12G>A	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2998259	NM_014251.3(SLC25A13):c.1178-19A>G	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2996675	NM_014251.3(SLC25A13):c.550del (p.Arg184fs)	SLC25A13 (R184fs)	Deletion (frameshift variant +1 more)	Citrin deficiency	GPathogenic
Select item 2992990	NM_014251.3(SLC25A13):c.468+11C>A	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2989684	NM_014251.3(SLC25A13):c.469-13T>G	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2988509	NM_014251.3(SLC25A13):c.528G>A (p.Gly176=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 2985495	NM_014251.3(SLC25A13):c.624A>C (p.Gly208=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 2982272	NM_014251.3(SLC25A13):c.1750+2T>C	SLC25A13	Single nucleotide variant (splice donor variant)	Citrin deficiency	GLikely pathogenic
Select item 2978457	NM_014251.3(SLC25A13):c.1938A>G (p.Thr646=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 2978367	NM_014251.3(SLC25A13):c.1668A>G (p.Gln556=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 2977025	NM_014251.3(SLC25A13):c.1750+13T>C	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2973950	NM_014251.3(SLC25A13):c.1230+20G>C	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2973244	NM_014251.3(SLC25A13):c.329-16T>C	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2971192	NM_014251.3(SLC25A13):c.508C>A (p.Arg170=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 2970130	NM_014251.3(SLC25A13):c.1750+14G>A	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2969423	NM_014251.3(SLC25A13):c.934-7A>G	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2967279	NM_014251.3(SLC25A13):c.69+15A>G	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2964307	NM_014251.3(SLC25A13):c.1797T>G (p.Thr599=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 2961683	NM_014251.3(SLC25A13):c.1841+13C>A	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2959128	NM_014251.3(SLC25A13):c.1231-14T>A	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2955981	NM_014251.3(SLC25A13):c.1453-7T>C	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2920451	NM_014251.3(SLC25A13):c.469-17A>G	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2920142	NM_014251.3(SLC25A13):c.329-13T>C	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2919873	NM_014251.3(SLC25A13):c.70-17T>A	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2918781	NM_014251.3(SLC25A13):c.469-13del	SLC25A13	Deletion (intron variant)	Citrin deficiency	GLikely benign
Select item 2918755	NM_014251.3(SLC25A13):c.754+13A>T	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2917414	NM_014251.3(SLC25A13):c.152del (p.Ser51fs)	SLC25A13 (S51fs)	Deletion (frameshift variant +1 more)	Citrin deficiency	GPathogenic
Select item 2916609	NM_014251.3(SLC25A13):c.1452+20A>T	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2916583	NM_014251.3(SLC25A13):c.754+8A>C	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2915376	NM_014251.3(SLC25A13):c.848+13T>C	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2914876	NM_014251.3(SLC25A13):c.329-11T>C	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2913063	NM_014251.3(SLC25A13):c.328+18G>A	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2911063	NM_014251.3(SLC25A13):c.16-14_16-13del	SLC25A13	Deletion (intron variant)	Citrin deficiency	GLikely benign
Select item 2910214	NM_014251.3(SLC25A13):c.1230+1G>A	SLC25A13	Single nucleotide variant (splice donor variant)	Citrin deficiency	GPathogenic
Select item 2907373	NM_014251.3(SLC25A13):c.919G>T (p.Glu307Ter)	SLC25A13 (E307*)	Single nucleotide variant (nonsense +1 more)	Citrin deficiency	GPathogenic
Select item 2905785	NM_014251.3(SLC25A13):c.1750+18T>C	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2903956	NM_014251.3(SLC25A13):c.963T>C (p.Val321=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 2902040	NM_014251.3(SLC25A13):c.329-20C>G	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2900050	NM_014251.3(SLC25A13):c.1591+14A>G	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2898703	NM_014251.3(SLC25A13):c.1018+9T>C	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2898597	NM_014251.3(SLC25A13):c.469-17A>C	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2897595	NM_014251.3(SLC25A13):c.1592-13G>A	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2893572	NM_014251.3(SLC25A13):c.16-10T>C	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2891199	NM_014251.3(SLC25A13):c.70-18T>C	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2890915	NM_014251.3(SLC25A13):c.69+12G>A	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2890876	NM_014251.3(SLC25A13):c.754+17C>T	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2885497	NM_014251.3(SLC25A13):c.1177+17C>T	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign

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