5250[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 148826	GRCh38/hg38 12q23.1-23.2(chr12:97394550-101410225)x3	ACTR6, ANKS1B +91 more	Copy number gain	See cases	GLikely pathogenic
Select item 1211456	NC_000012.12:g.98593311G>A	LOC130008522, SLC25A3	Single nucleotide variant	not provided	GLikely benign
Select item 1211185	NC_000012.12:g.98593401G>A	LOC130008522, SLC25A3	Single nucleotide variant	not provided	GLikely benign
Select item 675592	NM_005888.3(SLC25A3):c.-258G>A	SLC25A3	Single nucleotide variant	not provided	GLikely benign
Select item 310790	NM_005888.3(SLC25A3):c.-120G>C	SLC25A3	Single nucleotide variant	Cardiomyopathy-hypotonia-lactic acidosis syndrome	GUncertain significance
Select item 310791	NM_005888.3(SLC25A3):c.-92G>A	SLC25A3	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 310792	NM_005888.3(SLC25A3):c.-78G>A	SLC25A3	Single nucleotide variant	Cardiomyopathy-hypotonia-lactic acidosis syndrome	GBenign
Select item 310793	NM_005888.3(SLC25A3):c.-74C>T	SLC25A3	Single nucleotide variant	Cardiomyopathy-hypotonia-lactic acidosis syndrome	GLikely benign
Select item 883934	NM_005888.3(SLC25A3):c.-69G>A	SLC25A3	Single nucleotide variant	Cardiomyopathy-hypotonia-lactic acidosis syndrome	GUncertain significance
Select item 310794	NM_005888.3(SLC25A3):c.-61G>T	SLC25A3	Single nucleotide variant	Cardiomyopathy-hypotonia-lactic acidosis syndrome	GUncertain significance
Select item 310795	NM_002635.4(SLC25A3):c.-38C>T	SLC25A3	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy-hypotonia-lactic acidosis syndrome	GUncertain significance
Select item 139150	NM_002635.4(SLC25A3):c.-38C>G	SLC25A3	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 392112	NM_002635.4(SLC25A3):c.-5+17C>A	SLC25A3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 512409	NM_002635.4(SLC25A3):c.-5+20C>T	SLC25A3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 512668	NM_002635.4(SLC25A3):c.-4-21C>T	SLC25A3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 310796	NM_002635.4(SLC25A3):c.-4-7C>T	SLC25A3	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiomyopathy-hypotonia-lactic acidosis syndrome	GUncertain significance
Select item 310797	NM_002635.4(SLC25A3):c.4T>C (p.Phe2Leu)	SLC25A3 (F2L)	Single nucleotide variant (missense variant)	Cardiomyopathy-hypotonia-lactic acidosis syndrome	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 3019830	NM_002635.4(SLC25A3):c.9G>A (p.Ser3=)	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 1974730	NM_002635.4(SLC25A3):c.18G>A (p.Ala6=)	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 2885224	NM_002635.4(SLC25A3):c.22C>T (p.Leu8=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2843960	NM_002635.4(SLC25A3):c.36C>T (p.Asn12=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 431859	NM_002635.4(SLC25A3):c.38C>T (p.Pro13Leu)	SLC25A3 (P13L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 931405	NM_002635.4(SLC25A3):c.49C>G (p.Pro17Ala)	SLC25A3 (P17A)	Single nucleotide variant (missense variant)	Cardiomyopathy-hypotonia-lactic acidosis syndrome	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 1411081	NM_002635.4(SLC25A3):c.52C>T (p.His18Tyr)	SLC25A3 (H18Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 378597	NM_002635.4(SLC25A3):c.55C>T (p.Leu19=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 880645	NM_002635.4(SLC25A3):c.61C>T (p.Leu21=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 215164	NM_002635.4(SLC25A3):c.69C>A (p.His23Gln)	SLC25A3 (H23Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 880646	NM_002635.4(SLC25A3):c.75T>C (p.Gly25=)	SLC25A3	Single nucleotide variant (synonymous variant)	Cardiomyopathy-hypotonia-lactic acidosis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2111290	NM_002635.4(SLC25A3):c.81G>C (p.Gly27=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1923770	NM_002635.4(SLC25A3):c.81G>A (p.Gly27=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2030979	NM_002635.4(SLC25A3):c.84C>T (p.Asp28=)	SLC25A3	Single nucleotide variant (synonymous 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 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 1907962	NM_002635.4(SLC25A3):c.111G>A (p.Thr37=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2099705	NM_002635.4(SLC25A3):c.126C>G (p.Arg42=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 508848	NM_002635.4(SLC25A3):c.147C>A (p.Ala49=)	SLC25A3	Single nucleotide variant (synonymous variant)	Cardiomyopathy-hypotonia-lactic acidosis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2174873	NM_002635.4(SLC25A3):c.150C>T (p.Ala50=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 512316	NM_002635.4(SLC25A3):c.157+10G>A	SLC25A3	Single nucleotide variant (intron variant)	not specified	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 2977133	NM_002635.4(SLC25A3):c.157+20A>G	SLC25A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678915	NM_002635.4(SLC25A3):c.157+71C>G	SLC25A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248340	NM_002635.4(SLC25A3):c.157+241T>C	SLC25A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2045249	NM_002635.4(SLC25A3):c.158-314T>C	SLC25A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 215165	NM_002635.4(SLC25A3):c.158-303A>G	SLC25A3	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2107543	NM_002635.4(SLC25A3):c.158-301C>G	SLC25A3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 705874	NM_005888.4(SLC25A3):c.158-5_158-2del	SLC25A3	Deletion (splice acceptor variant +1 more)	not provided	GBenign
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 755680	NM_005888.4(SLC25A3):c.159G>A (p.Glu53=)	SLC25A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1941337	NM_005888.4(SLC25A3):c.176A>G (p.Tyr59Cys)	SLC25A3 (Y59C)	Single nucleotide variant (intron variant +1 more)	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 9149	NM_005888.4(SLC25A3):c.215G>A (p.Gly72Glu)	LOC130008523, SLC25A3 (G72E)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy-hypotonia-lactic acidosis syndrome	GPathogenic
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 1431083	NM_005888.4(SLC25A3):c.241dup (p.Thr81fs)	LOC130008523, SLC25A3 (T81fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
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 2085785	NM_005888.4(SLC25A3):c.259G>A (p.Asp87Asn)	LOC130008523, SLC25A3 (D87N)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
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 2981102	NM_005888.4(SLC25A3):c.276A>G (p.Arg92=)	LOC130008523, SLC25A3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 215162	NM_005888.4(SLC25A3):c.279G>T (p.Met93Ile)	LOC130008523, SLC25A3 (M93I)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2859817	NM_002635.4(SLC25A3):c.158-161T>C	LOC130008523, SLC25A3	Single nucleotide variant (intron 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 2178577	NM_002635.4(SLC25A3):c.158-150C>A	LOC130008523, SLC25A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215897	NM_002635.4(SLC25A3):c.158-118G>A	SLC25A3, LOC130008523	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675485	NM_002635.4(SLC25A3):c.158-102A>G	LOC130008523, SLC25A3	Single nucleotide variant (intron variant)	not provided	GBenign
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 683821	NM_002635.4(SLC25A3):c.279+292A>T	SLC25A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190048	NM_002635.4(SLC25A3):c.280-272C>T	SLC25A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190356	NM_002635.4(SLC25A3):c.280-133del	SLC25A3	Deletion (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 2097552	NM_002635.4(SLC25A3):c.280-6A>G	SLC25A3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2837960	NM_002635.4(SLC25A3):c.280-1G>C	SLC25A3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1983516	NM_002635.4(SLC25A3):c.291A>G (p.Gln97=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 880647	NM_002635.4(SLC25A3):c.312C>T (p.Asn104=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2860695	NM_002635.4(SLC25A3):c.336G>A (p.Glu112=)	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 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 2738940	NM_002635.4(SLC25A3):c.372G>A (p.Pro124=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	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 1965729	NM_002635.4(SLC25A3):c.414C>T (p.Gly138=)	SLC25A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 392123	NM_002635.4(SLC25A3):c.429T>C (p.Phe143=)	SLC25A3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 139148	NM_002635.4(SLC25A3):c.436T>C (p.Leu146=)	SLC25A3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 2792620	NM_002635.4(SLC25A3):c.459+16T>C	SLC25A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259865	NM_002635.4(SLC25A3):c.459+31del	SLC25A3	Deletion (intron variant)	not provided	GBenign
Select item 1214862	NM_002635.4(SLC25A3):c.459+32G>C	SLC25A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231057	NM_002635.4(SLC25A3):c.459+92T>C	SLC25A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246177	NM_002635.4(SLC25A3):c.460-236C>T	SLC25A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189230	NM_002635.4(SLC25A3):c.460-177T>C	SLC25A3	Single nucleotide variant (intron variant)	not provided	GLikely benign

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