ClinVar for Gene (Select 8604) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3368840	NM_003705.5(SLC25A12):c.1342G>A (p.Glu448Lys)	SLC25A12 (E448K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3338991	NM_003705.5(SLC25A12):c.693del (p.Val232fs)	SLC25A12 (V232fs)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 39	GPathogenic
Select item 3319186	NM_003705.5(SLC25A12):c.288G>T (p.Gln96His)	SLC25A12 (Q96H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163587	NM_003705.5(SLC25A12):c.940G>T (p.Gly314Trp)	SLC25A12 (G314W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163586	NM_003705.5(SLC25A12):c.776G>A (p.Arg259His)	SLC25A12 (R259H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163585	NM_003705.5(SLC25A12):c.4G>T (p.Ala2Ser)	SLC25A12 (A2S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163584	NM_003705.5(SLC25A12):c.4G>A (p.Ala2Thr)	SLC25A12 (A2T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163583	NM_003705.5(SLC25A12):c.1903C>T (p.His635Tyr)	SLC25A12 (H635Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163582	NM_003705.5(SLC25A12):c.1214T>C (p.Ile405Thr)	SLC25A12 (I405T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 3049843	NM_003705.5(SLC25A12):c.*5A>G	SLC25A12	Single nucleotide variant (3 prime UTR variant +1 more)	SLC25A12-related disorder	GLikely benign
Select item 3017737	NM_003705.5(SLC25A12):c.1224+8T>C	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010875	NM_003705.5(SLC25A12):c.612+7A>G	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994420	NM_003705.5(SLC25A12):c.931-19C>T	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987909	NM_003705.5(SLC25A12):c.613-19T>G	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978842	NM_003705.5(SLC25A12):c.1306-19T>C	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915555	NM_003705.5(SLC25A12):c.12+19T>C	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915485	NM_003705.5(SLC25A12):c.189A>G (p.Val63=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2913706	NM_003705.5(SLC25A12):c.1447-20A>G	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912990	NM_003705.5(SLC25A12):c.1290T>G (p.Val430=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2903221	NM_003705.5(SLC25A12):c.1842C>T (p.Pro614=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2902339	NM_003705.5(SLC25A12):c.13-16T>C	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902143	NM_003705.5(SLC25A12):c.1122C>T (p.Asp374=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2899519	NM_003705.5(SLC25A12):c.67-14A>G	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896625	NM_003705.5(SLC25A12):c.504C>T (p.Leu168=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2878239	NM_003705.5(SLC25A12):c.1306-16T>A	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873985	NM_003705.5(SLC25A12):c.209+13A>G	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864433	NM_003705.5(SLC25A12):c.1047G>A (p.Leu349=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2851823	NM_003705.5(SLC25A12):c.321A>G (p.Thr107=)	SLC25A12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844117	NM_003705.5(SLC25A12):c.28C>T (p.Arg10Ter)	SLC25A12 (R10*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2836503	NM_003705.5(SLC25A12):c.12+12T>A	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831762	NM_003705.5(SLC25A12):c.1029dup (p.Val344fs)	SLC25A12 (V344fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2825021	NM_003705.5(SLC25A12):c.273C>T (p.Phe91=)	SLC25A12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822566	NM_003705.5(SLC25A12):c.1645G>A (p.Ala549Thr)	SLC25A12 (A549T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2811954	NM_003705.5(SLC25A12):c.465+19A>G	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2806913	NM_003705.5(SLC25A12):c.1977A>G (p.Lys659=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2805053	NM_003705.5(SLC25A12):c.931-16_931-15insC	SLC25A12	Insertion (intron variant)	not provided	GLikely benign
Select item 2803494	NM_003705.5(SLC25A12):c.78T>G (p.Thr26=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2796481	NM_003705.5(SLC25A12):c.67-10del	SLC25A12	Deletion (intron variant)	not provided	GLikely benign
Select item 2795890	NM_003705.5(SLC25A12):c.1744+14G>A	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793966	NM_003705.5(SLC25A12):c.1306-12C>G	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788612	NM_003705.5(SLC25A12):c.1860A>G (p.Thr620=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2785592	NM_003705.5(SLC25A12):c.1586-20A>G	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776351	NM_003705.5(SLC25A12):c.1848T>G (p.Gly616=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2776350	NM_003705.5(SLC25A12):c.1848_1849insG (p.Ser617fs)	SLC25A12 (S617fs)	Insertion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2767306	NM_003705.5(SLC25A12):c.130C>T (p.Leu44Phe)	SLC25A12 (L44F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2761690	NM_003705.5(SLC25A12):c.325+17A>G	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2749875	NM_003705.5(SLC25A12):c.325+12A>T	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2749401	NM_003705.5(SLC25A12):c.1306-18_1306-17del	SLC25A12	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2748618	NM_003705.5(SLC25A12):c.1447-5G>C	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2739248	NM_003705.5(SLC25A12):c.693T>C (p.Leu231=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2739158	NM_003705.5(SLC25A12):c.931-16G>A	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2737342	NM_003705.5(SLC25A12):c.252A>G (p.Leu84=)	SLC25A12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2732509	NM_003705.5(SLC25A12):c.1468C>A (p.Arg490=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2728952	NM_003705.5(SLC25A12):c.1512T>C (p.His504=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2726705	NM_003705.5(SLC25A12):c.13-16dup	SLC25A12	Duplication (intron variant)	not provided	GBenign
Select item 2723004	NM_003705.5(SLC25A12):c.67-17T>C	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2716375	NM_003705.5(SLC25A12):c.1935G>A (p.Thr645=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2716361	NM_003705.5(SLC25A12):c.1586-15G>C	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2712313	NM_003705.5(SLC25A12):c.984C>T (p.Tyr328=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2711854	NM_003705.5(SLC25A12):c.883T>C (p.Leu295=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2711308	NM_003705.5(SLC25A12):c.1586-11dup	SLC25A12	Duplication (intron variant)	not provided	GBenign
Select item 2705014	NM_003705.5(SLC25A12):c.13-9del	SLC25A12	Deletion (intron variant)	not provided	GBenign
Select item 2704123	NM_003705.5(SLC25A12):c.13-1_13del	SLC25A12	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2702332	NM_003705.5(SLC25A12):c.66+13G>C	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2701252	NM_003705.5(SLC25A12):c.67-11T>A	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2700845	NM_003705.5(SLC25A12):c.1586-11del	SLC25A12	Deletion (intron variant)	not provided	GBenign
Select item 2693223	NM_003705.5(SLC25A12):c.1969C>T (p.Leu657Phe)	SLC25A12 (L657F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2651545	NM_003705.5(SLC25A12):c.1370C>G (p.Ala457Gly)	SLC25A12 (A457G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2608135	NM_003705.5(SLC25A12):c.1859C>T (p.Thr620Ile)	SLC25A12 (T620I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2585292	NM_003705.5(SLC25A12):c.101T>A (p.Met34Lys)	SLC25A12 (M34K)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 39	GUncertain significance
Select item 2579196	GRCh38/hg38 2q31.1(chr2:171833866-171844606)x0	SLC25A12	Copy number loss	Developmental and epileptic encephalopathy, 39	GPathogenic
Select item 2498846	NM_003705.5(SLC25A12):c.1320G>A (p.Gln440=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2424739	NC_000002.11:g.(?_171675102)_(174232392_?)dup	CDCA7, CYBRD1 +15 more	Duplication	not provided	GUncertain significance
Select item 2424737	NC_000002.11:g.(?_172641784)_(172712479_?)dup	SLC25A12	Duplication	not provided	GUncertain significance
Select item 2424736	NC_000002.11:g.(?_172749695)_(172750724_?)dup	SLC25A12	Duplication	not provided	GUncertain significance
Select item 2424735	NC_000002.11:g.(?_172669829)_(172750724_?)dup	SLC25A12	Duplication	not provided	GUncertain significance
Select item 2424734	NC_000002.11:g.(?_172725171)_(172725353_?)del	SLC25A12	Deletion	not provided	GPathogenic
Select item 2415052	NM_003705.5(SLC25A12):c.1225-16T>G	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2329831	NM_003705.5(SLC25A12):c.1580T>C (p.Met527Thr)	SLC25A12 (M527T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323312	NM_003705.5(SLC25A12):c.899T>C (p.Leu300Ser)	SLC25A12 (L300S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2312479	NM_003705.5(SLC25A12):c.254G>A (p.Cys85Tyr)	SLC25A12 (C85Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283010	NM_003705.5(SLC25A12):c.249_255del (p.Cys85fs)	SLC25A12 (C85fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2202403	NM_003705.5(SLC25A12):c.1651C>T (p.Arg551Cys)	SLC25A12 (R551C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2201130	NM_003705.5(SLC25A12):c.1193G>T (p.Gly398Val)	SLC25A12 (G398V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2196456	NM_003705.5(SLC25A12):c.326-19T>G	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2192698	NM_003705.5(SLC25A12):c.416A>G (p.His139Arg)	SLC25A12 (H139R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2192449	NM_003705.5(SLC25A12):c.1871G>A (p.Arg624His)	SLC25A12 (R624H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2183345	NM_003705.5(SLC25A12):c.114C>T (p.Asp38=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2183191	NM_003705.5(SLC25A12):c.1820T>C (p.Ile607Thr)	SLC25A12 (I607T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2177569	NM_003705.5(SLC25A12):c.1334A>G (p.Asn445Ser)	SLC25A12 (N445S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2168885	NM_003705.5(SLC25A12):c.744C>T (p.Val248=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2166770	NM_003705.5(SLC25A12):c.1485T>C (p.Ser495=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2163383	NM_003705.5(SLC25A12):c.1684G>A (p.Asp562Asn)	SLC25A12 (D562N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2153651	NM_003705.5(SLC25A12):c.1489A>G (p.Ile497Val)	SLC25A12 (I497V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2150869	NM_003705.5(SLC25A12):c.1057C>T (p.Arg353Ter)	SLC25A12 (R353*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2147968	NM_003705.5(SLC25A12):c.1908C>T (p.Ile636=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2147957	NM_003705.5(SLC25A12):c.210-21_210-20inv	SLC25A12	Inversion (intron variant)	not provided	GUncertain significance
Select item 2147954	NM_003705.5(SLC25A12):c.325+6G>A	SLC25A12	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2147110	NM_003705.5(SLC25A12):c.846-11T>C	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign

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