ClinVar for MedGen (Select 372684) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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
Select item 2883019	NM_014251.3(SLC25A13):c.848+12T>C	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2879608	NM_014251.3(SLC25A13):c.754+16T>G	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2877621	NM_014251.3(SLC25A13):c.1788T>C (p.Thr596=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 2875406	NM_014251.3(SLC25A13):c.1452+18T>G	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2869155	NM_014251.3(SLC25A13):c.1841+18T>C	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2866636	NM_014251.3(SLC25A13):c.69+7A>G	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2865731	NM_014251.3(SLC25A13):c.328+14T>C	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2863909	NM_014251.3(SLC25A13):c.597A>G (p.Val199=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 2863626	NM_014251.3(SLC25A13):c.729C>G (p.Thr243=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 2863487	NM_014251.3(SLC25A13):c.930G>A (p.Arg310=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 2861184	NM_014251.3(SLC25A13):c.213-19T>C	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2860910	NM_014251.3(SLC25A13):c.755-7C>G	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2858538	NM_014251.3(SLC25A13):c.848+10C>G	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2858331	NM_014251.3(SLC25A13):c.1841+12G>C	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2855844	NM_014251.3(SLC25A13):c.1591+19G>A	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2854590	NM_014251.3(SLC25A13):c.1592-4G>T	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2852497	NM_014251.3(SLC25A13):c.469-17A>T	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2852458	NM_014251.3(SLC25A13):c.744A>G (p.Glu248=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 2848009	NM_014251.3(SLC25A13):c.1467C>T (p.Cys489=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 2846574	NM_014251.3(SLC25A13):c.16-12G>T	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2846557	NM_014251.3(SLC25A13):c.471A>G (p.Glu157=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 2844679	NM_014251.3(SLC25A13):c.1164del (p.Phe388fs)	SLC25A13 (F388fs +1 more)	Deletion (frameshift variant +1 more)	Citrin deficiency	GPathogenic
Select item 2843689	NM_014251.3(SLC25A13):c.212+13T>G	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2837585	NM_014251.3(SLC25A13):c.1177+15C>G	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2835375	NM_014251.3(SLC25A13):c.1643T>G (p.Leu548Ter)	SLC25A13 (L548* +1 more)	Single nucleotide variant (nonsense +1 more)	Citrin deficiency	GPathogenic
Select item 2833171	NM_014251.3(SLC25A13):c.453T>C (p.Phe151=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 2823674	NM_014251.3(SLC25A13):c.1591+9C>G	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2822366	NM_014251.3(SLC25A13):c.1605A>G (p.Ala535=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 2817553	NM_014251.3(SLC25A13):c.70-13T>G	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign

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