ClinVar for Gene (Select 5250) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360198	NM_002635.4(SLC25A3):c.358A>G (p.Lys120Glu)	SLC25A3 (K120E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3319221	NM_002635.4(SLC25A3):c.790G>C (p.Val264Leu)	SLC25A3 (V265L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244391	NC_000012.11:g.(?_98987757)_(98989355_?)del	SLC25A3	Deletion	not provided	GPathogenic
Select item 3244390	NC_000012.11:g.(?_98993713)_(98993925_?)del	SLC25A3	Deletion	not provided	GPathogenic
Select item 3163678	NM_002635.4(SLC25A3):c.796T>C (p.Phe266Leu)	SLC25A3 (F266L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163676	NM_002635.4(SLC25A3):c.127C>T (p.Pro43Ser)	SLC25A3 (P43S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3023620	NM_002635.4(SLC25A3):c.408G>A (p.Lys136=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019830	NM_002635.4(SLC25A3):c.9G>A (p.Ser3=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988906	NM_002635.4(SLC25A3):c.957C>T (p.Ile319=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986552	NM_002635.4(SLC25A3):c.926-13C>G	SLC25A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981102	NM_005888.4(SLC25A3):c.276A>G (p.Arg92=)	LOC130008523, SLC25A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2977133	NM_002635.4(SLC25A3):c.157+20A>G	SLC25A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973382	NM_002635.4(SLC25A3):c.1037C>T (p.Pro346Leu)	SLC25A3 (P346L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964142	NM_002635.4(SLC25A3):c.539C>T (p.Ala180Val)	SLC25A3 (A181V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2886594	NM_002635.4(SLC25A3):c.684A>G (p.Pro228=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885224	NM_002635.4(SLC25A3):c.22C>T (p.Leu8=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871468	NM_002635.4(SLC25A3):c.157+19C>T	SLC25A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860695	NM_002635.4(SLC25A3):c.336G>A (p.Glu112=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860411	NM_002635.4(SLC25A3):c.1023T>A (p.Leu341=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859817	NM_002635.4(SLC25A3):c.158-161T>C	LOC130008523, SLC25A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856193	NM_002635.4(SLC25A3):c.90C>G (p.Arg30=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2843960	NM_002635.4(SLC25A3):c.36C>T (p.Asn12=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837960	NM_002635.4(SLC25A3):c.280-1G>C	SLC25A3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2825261	NM_005888.4(SLC25A3):c.158-1G>C	SLC25A3	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2808834	NM_005888.4(SLC25A3):c.231C>T (p.Gly77=)	LOC130008523, SLC25A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2799376	NM_002635.4(SLC25A3):c.642-13C>T	SLC25A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792986	NM_002635.4(SLC25A3):c.730C>T (p.Leu244=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792620	NM_002635.4(SLC25A3):c.459+16T>C	SLC25A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790332	NM_005888.4(SLC25A3):c.261T>G (p.Asp87Glu)	LOC130008523, SLC25A3 (D87E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2738940	NM_002635.4(SLC25A3):c.372G>A (p.Pro124=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718297	NM_002635.4(SLC25A3):c.621_622del (p.Tyr207_Lys208delinsTer)	SLC25A3	Microsatellite (nonsense)	not provided	GPathogenic
Select item 2643226	NM_002635.4(SLC25A3):c.246G>A (p.Val82=)	SLC25A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2593801	NM_002635.4(SLC25A3):c.1022T>G (p.Leu341Arg)	SLC25A3 (L341R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478479	NM_002635.4(SLC25A3):c.463A>G (p.Asn155Asp)	SLC25A3 (N156D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2435997	NM_002635.4(SLC25A3):c.544A>G (p.Met182Val)	SLC25A3 (M182V +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy-hypotonia-lactic acidosis syndrome +1 more	GUncertain significance
Select item 2425433	NC_000012.11:g.(?_98987757)_(98995306_?)dup	SLC25A3	Duplication	not provided	GUncertain significance
Select item 2421230	NM_002635.4(SLC25A3):c.814+20C>G	SLC25A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2327560	NM_002635.4(SLC25A3):c.1028G>A (p.Arg343His)	SLC25A3 (R343H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271310	NM_005888.4(SLC25A3):c.244G>A (p.Ala82Thr)	LOC130008523, SLC25A3 (A82T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270903	NM_002635.4(SLC25A3):c.1069C>G (p.Leu357Val)	SLC25A3 (L357V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251696	NM_002635.4(SLC25A3):c.664C>T (p.Leu222Phe)	SLC25A3 (L223F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244920	NM_002635.4(SLC25A3):c.587C>G (p.Ala196Gly)	SLC25A3 (A196G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2199108	NM_002635.4(SLC25A3):c.516A>G (p.Glu172=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2198565	NM_002635.4(SLC25A3):c.346C>T (p.Arg116Cys)	SLC25A3 (R116C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2197227	NM_002635.4(SLC25A3):c.122G>C (p.Arg41Pro)	SLC25A3 (R41P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2196963	NM_002635.4(SLC25A3):c.930A>G (p.Val310=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2195371	NM_002635.4(SLC25A3):c.464A>C (p.Asn155Thr)	SLC25A3 (N156T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2191399	NM_002635.4(SLC25A3):c.1033C>G (p.Pro345Ala)	SLC25A3 (P345A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189417	NM_005888.4(SLC25A3):c.192C>G (p.Phe64Leu)	SLC25A3 (F64L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2178577	NM_002635.4(SLC25A3):c.158-150C>A	LOC130008523, SLC25A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2174873	NM_002635.4(SLC25A3):c.150C>T (p.Ala50=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2165673	NM_002635.4(SLC25A3):c.460-6T>C	SLC25A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2129322	NM_002635.4(SLC25A3):c.556A>G (p.Lys186Glu)	SLC25A3 (K186E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2127969	NM_002635.4(SLC25A3):c.1013A>C (p.Tyr338Ser)	SLC25A3 (Y338S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115125	NM_002635.4(SLC25A3):c.56T>G (p.Leu19Arg)	SLC25A3 (L19R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111290	NM_002635.4(SLC25A3):c.81G>C (p.Gly27=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2107833	NM_002635.4(SLC25A3):c.11C>T (p.Ser4Phe)	SLC25A3 (S4F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2107543	NM_002635.4(SLC25A3):c.158-301C>G	SLC25A3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2099705	NM_002635.4(SLC25A3):c.126C>G (p.Arg42=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2097552	NM_002635.4(SLC25A3):c.280-6A>G	SLC25A3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2086847	NM_002635.4(SLC25A3):c.641C>T (p.Ala214Val)	SLC25A3 (A214V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085785	NM_005888.4(SLC25A3):c.259G>A (p.Asp87Asn)	LOC130008523, SLC25A3 (D87N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2077169	NM_002635.4(SLC25A3):c.36C>A (p.Asn12Lys)	SLC25A3 (N12K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2073850	NM_002635.4(SLC25A3):c.103G>C (p.Gly35Arg)	SLC25A3 (G35R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2073154	NM_002635.4(SLC25A3):c.811A>G (p.Ile271Val)	SLC25A3 (I271V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065872	NM_002635.4(SLC25A3):c.649A>G (p.Lys217Glu)	SLC25A3 (K218E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063734	NM_002635.4(SLC25A3):c.925+16T>C	SLC25A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2056488	NM_002635.4(SLC25A3):c.347G>A (p.Arg116His)	SLC25A3 (R116H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055253	NM_002635.4(SLC25A3):c.446A>G (p.Asn149Ser)	SLC25A3 (N149S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052914	NM_002635.4(SLC25A3):c.50C>T (p.Pro17Leu)	SLC25A3 (P17L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2047772	NM_002635.4(SLC25A3):c.6C>G (p.Phe2Leu)	SLC25A3 (F2L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2045249	NM_002635.4(SLC25A3):c.158-314T>C	SLC25A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2041157	NM_002635.4(SLC25A3):c.65T>G (p.Val22Gly)	SLC25A3 (V22G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2038340	NM_002635.4(SLC25A3):c.925G>A (p.Gly309Ser)	SLC25A3 (G310S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2037095	NM_002635.4(SLC25A3):c.659C>T (p.Ala220Val)	SLC25A3 (A220V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2030979	NM_002635.4(SLC25A3):c.84C>T (p.Asp28=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2022607	NM_002635.4(SLC25A3):c.1005G>C (p.Val335=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2010553	NM_002635.4(SLC25A3):c.889A>G (p.Ser297Gly)	SLC25A3 (S297G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993989	NM_002635.4(SLC25A3):c.22C>G (p.Leu8Val)	SLC25A3 (L8V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1983516	NM_002635.4(SLC25A3):c.291A>G (p.Gln97=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1974730	NM_002635.4(SLC25A3):c.18G>A (p.Ala6=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1968293	NM_002635.4(SLC25A3):c.757C>T (p.Arg253Cys)	SLC25A3 (R253C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1966829	NM_002635.4(SLC25A3):c.1011C>T (p.Val337=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1965729	NM_002635.4(SLC25A3):c.414C>T (p.Gly138=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1947009	NM_002635.4(SLC25A3):c.158-158A>G	LOC130008523, SLC25A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1941337	NM_005888.4(SLC25A3):c.176A>G (p.Tyr59Cys)	SLC25A3 (Y59C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1939990	NM_002635.4(SLC25A3):c.832A>G (p.Ile278Val)	SLC25A3 (I279V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1925805	NM_002635.4(SLC25A3):c.74G>A (p.Gly25Asp)	SLC25A3 (G25D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923770	NM_002635.4(SLC25A3):c.81G>A (p.Gly27=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1916970	NM_002635.4(SLC25A3):c.925+11del	SLC25A3	Deletion (intron variant)	not provided	GLikely benign
Select item 1907962	NM_002635.4(SLC25A3):c.111G>A (p.Thr37=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1901084	NM_002635.4(SLC25A3):c.21C>T (p.His7=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898400	NM_002635.4(SLC25A3):c.642-13_642-12del	SLC25A3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1717199	NM_002635.4(SLC25A3):c.1017C>A (p.Phe339Leu)	SLC25A3 (F339L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1652601	NM_002635.4(SLC25A3):c.814+15G>C	SLC25A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1626195	NM_002635.4(SLC25A3):c.280-16C>T	SLC25A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1569888	NM_002635.4(SLC25A3):c.925+18dup	SLC25A3	Duplication (intron variant)	not provided	GBenign
Select item 1569139	NM_002635.4(SLC25A3):c.585T>C (p.Tyr195=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1495713	NM_002635.4(SLC25A3):c.642-2A>G	SLC25A3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1431083	NM_005888.4(SLC25A3):c.241dup (p.Thr81fs)	LOC130008523, SLC25A3 (T81fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic

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