ClinVar for Gene (Select 81034) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245605	NC_000008.10:g.(?_104412639)_(104427165_?)del	DCAF13, SLC25A32	Deletion	not provided	GUncertain significance
Select item 3163689	NM_030780.5(SLC25A32):c.810G>C (p.Trp270Cys)	SLC25A32 (W270C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163687	NM_030780.5(SLC25A32):c.472T>G (p.Ser158Ala)	SLC25A32 (S158A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3040033	NM_030780.5(SLC25A32):c.129C>T (p.Leu43=)	SLC25A32	Single nucleotide variant (synonymous variant +1 more)	SLC25A32-related disorder	GLikely benign
Select item 3023943	NM_030780.5(SLC25A32):c.235C>T (p.Arg79Trp)	SLC25A32 (R79W)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3016076	NM_030780.5(SLC25A32):c.155-9T>C	SLC25A32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003786	NM_030780.5(SLC25A32):c.402C>G (p.Thr134=)	SLC25A32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2996468	NM_030780.5(SLC25A32):c.552+17A>G	SLC25A32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994853	NM_030780.5(SLC25A32):c.84G>A (p.Ala28=)	SLC25A32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2993368	NM_030780.5(SLC25A32):c.20C>A (p.Ser7Ter)	SLC25A32 (S7*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2988119	NM_030780.5(SLC25A32):c.501T>G (p.Phe167Leu)	SLC25A32 (F167L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2988072	NM_030780.5(SLC25A32):c.552+19A>G	SLC25A32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986306	NM_030780.5(SLC25A32):c.553-4G>A	SLC25A32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981801	NM_030780.5(SLC25A32):c.9C>T (p.Gly3=)	SLC25A32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2974313	NM_030780.5(SLC25A32):c.306-15A>G	SLC25A32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971302	NM_030780.5(SLC25A32):c.812+16A>G	SLC25A32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958628	NM_030780.5(SLC25A32):c.912A>G (p.Ser304=)	SLC25A32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2956835	NM_030780.5(SLC25A32):c.187A>G (p.Asn63Asp)	SLC25A32 (N63D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2919302	NM_030780.5(SLC25A32):c.306-7_306-3dup	SLC25A32	Duplication (intron variant)	not provided	GLikely benign
Select item 2914750	NM_030780.5(SLC25A32):c.391+9A>G	SLC25A32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899738	NM_030780.5(SLC25A32):c.538C>G (p.Arg180Gly)	SLC25A32 (R180G)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2883597	NM_030780.5(SLC25A32):c.717C>T (p.Val239=)	SLC25A32	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2878390	NM_030780.5(SLC25A32):c.813-6C>G	SLC25A32	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2870590	NM_030780.5(SLC25A32):c.420A>G (p.Pro140=)	SLC25A32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2867709	NM_030780.5(SLC25A32):c.392-1G>A	SLC25A32	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2860131	NM_030780.5(SLC25A32):c.154+11_154+12insGG	SLC25A32	Insertion (intron variant)	not provided	GLikely benign
Select item 2843726	NM_030780.5(SLC25A32):c.297C>T (p.Tyr99=)	SLC25A32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2825086	NM_030780.5(SLC25A32):c.506C>T (p.Thr169Ile)	SLC25A32 (T169I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2821980	NM_030780.5(SLC25A32):c.88G>T (p.Val30Leu)	SLC25A32 (V30L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2818598	NM_030780.5(SLC25A32):c.306-19T>G	SLC25A32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2817700	NM_030780.5(SLC25A32):c.305+13G>C	SLC25A32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808088	NM_030780.5(SLC25A32):c.154+2dup	SLC25A32	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2804332	NM_030780.5(SLC25A32):c.685T>C (p.Ser229Pro)	SLC25A32 (S229P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2800932	NM_030780.5(SLC25A32):c.653C>G (p.Pro218Arg)	SLC25A32 (P218R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2791868	NM_030780.5(SLC25A32):c.902A>C (p.Glu301Ala)	SLC25A32 (E301A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2790157	NM_030780.5(SLC25A32):c.552+20T>G	SLC25A32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780385	NM_030780.5(SLC25A32):c.407G>T (p.Cys136Phe)	SLC25A32 (C136F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2779383	NM_030780.5(SLC25A32):c.28G>A (p.Gly10Arg)	SLC25A32 (G10R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2777360	NM_030780.5(SLC25A32):c.375C>T (p.Val125=)	SLC25A32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2775955	NM_030780.5(SLC25A32):c.97G>C (p.Gly33Arg)	SLC25A32 (G33R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2756095	NM_030780.5(SLC25A32):c.148T>C (p.Phe50Leu)	SLC25A32 (F50L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2748229	NM_030780.5(SLC25A32):c.798_808dup (p.Trp270fs)	SLC25A32 (W270fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2747828	NM_030780.5(SLC25A32):c.155-1G>T	SLC25A32	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2725980	NM_030780.5(SLC25A32):c.645T>C (p.Asn215=)	SLC25A32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2707372	NM_030780.5(SLC25A32):c.933A>G (p.Arg311=)	SLC25A32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2684550	GRCh37/hg19 8q22.3(chr8:104054189-105048015)x3	ATP6V1C1, BAALC +5 more	Copy number gain	not provided	GUncertain significance
Select item 2621834	NM_030780.5(SLC25A32):c.62T>G (p.Val21Gly)	SLC25A32 (V21G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612578	NM_030780.5(SLC25A32):c.236G>C (p.Arg79Pro)	SLC25A32 (R79P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570120	NM_030780.5(SLC25A32):c.695C>T (p.Ala232Val)	SLC25A32 (A232V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2559560	NM_030780.5(SLC25A32):c.861T>G (p.Ile287Met)	SLC25A32 (I287M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489242	NM_030780.5(SLC25A32):c.421T>G (p.Leu141Val)	SLC25A32 (L141V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470033	NM_030780.5(SLC25A32):c.698T>C (p.Leu233Pro)	SLC25A32 (L233P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2461553	NM_030780.5(SLC25A32):c.64C>T (p.Arg22Trp)	SLC25A32 (R22W)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2426944	NC_000008.10:g.(?_98358247)_(106815766_?)dup	ANKRD46, ATP6V1C1 +40 more	Duplication	not provided	GUncertain significance
Select item 2426943	NC_000008.10:g.(?_104416984)_(104417109_?)del	SLC25A32	Deletion	not provided	GUncertain significance
Select item 2424157	NC_000008.10:g.(?_104412639)_(106815766_?)dup	DCAF13, DCSTAMP +5 more	Duplication	not provided	GUncertain significance
Select item 2421454	NM_030780.5(SLC25A32):c.155-4G>T	SLC25A32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2417478	NM_030780.5(SLC25A32):c.306-4T>C	SLC25A32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2415281	NM_030780.5(SLC25A32):c.573T>G (p.Phe191Leu)	SLC25A32 (F191L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2407636	NM_030780.5(SLC25A32):c.103T>G (p.Leu35Val)	SLC25A32 (L35V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384480	NM_030780.5(SLC25A32):c.659C>T (p.Ala220Val)	SLC25A32 (A220V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317650	NM_030780.5(SLC25A32):c.209C>T (p.Thr70Ile)	SLC25A32 (T70I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314471	NM_030780.5(SLC25A32):c.290G>A (p.Gly97Glu)	SLC25A32 (G97E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282488	NM_030780.5(SLC25A32):c.116C>T (p.Ala39Val)	SLC25A32 (A39V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2181763	NM_030780.5(SLC25A32):c.7GGCCAG[3] (p.Gln6_Ser7insGlyGln)	SLC25A32	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2181564	NM_030780.5(SLC25A32):c.723A>G (p.Ala241=)	SLC25A32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2179874	NM_030780.5(SLC25A32):c.115G>T (p.Ala39Ser)	SLC25A32 (A39S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2178643	NM_030780.5(SLC25A32):c.687T>C (p.Ser229=)	SLC25A32	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2142969	NM_030780.5(SLC25A32):c.718G>A (p.Ala240Thr)	SLC25A32 (A240T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2128504	NM_030780.5(SLC25A32):c.154+19A>T	SLC25A32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2120725	NM_030780.5(SLC25A32):c.651A>G (p.Leu217=)	SLC25A32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2118433	NM_030780.5(SLC25A32):c.462T>A (p.Ala154=)	SLC25A32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2089269	NM_030780.5(SLC25A32):c.60C>T (p.His20=)	SLC25A32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2088555	NM_030780.5(SLC25A32):c.343G>A (p.Ala115Thr)	SLC25A32 (A115T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2085688	NM_030780.5(SLC25A32):c.823G>A (p.Val275Ile)	SLC25A32 (V275I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2084001	NM_030780.5(SLC25A32):c.154+7G>A	SLC25A32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2080350	NM_030780.5(SLC25A32):c.822C>T (p.Gly274=)	SLC25A32	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2080268	NM_030780.5(SLC25A32):c.445A>G (p.Met149Val)	SLC25A32 (M149V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2069014	NM_030780.5(SLC25A32):c.859A>G (p.Ile287Val)	SLC25A32 (I287V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2064214	NM_030780.5(SLC25A32):c.709T>C (p.Phe237Leu)	SLC25A32 (F237L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2059209	NM_030780.5(SLC25A32):c.357G>A (p.Glu119=)	SLC25A32	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2046578	NM_030780.5(SLC25A32):c.488A>G (p.Tyr163Cys)	SLC25A32 (Y163C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2045723	NM_030780.5(SLC25A32):c.539G>A (p.Arg180His)	SLC25A32 (R180H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2021489	NM_030780.5(SLC25A32):c.405C>T (p.Leu135=)	SLC25A32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2020575	NM_030780.5(SLC25A32):c.285del (p.Trp96fs)	SLC25A32 (W96fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2013654	NM_030780.5(SLC25A32):c.546A>G (p.Leu182=)	SLC25A32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2006436	NM_030780.5(SLC25A32):c.661C>G (p.Gln221Glu)	SLC25A32 (Q221E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2005381	NM_030780.5(SLC25A32):c.828_830del (p.Gly277del)	SLC25A32 (G277del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2002977	NM_030780.5(SLC25A32):c.445A>C (p.Met149Leu)	SLC25A32 (M149L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1988627	NM_030780.5(SLC25A32):c.211A>G (p.Thr71Ala)	SLC25A32 (T71A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1985044	NM_030780.5(SLC25A32):c.802A>G (p.Lys268Glu)	SLC25A32 (K268E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1983022	NM_030780.5(SLC25A32):c.812+10C>T	SLC25A32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1964241	NM_030780.5(SLC25A32):c.666+6A>G	SLC25A32	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1959548	NM_030780.5(SLC25A32):c.859A>T (p.Ile287Phe)	SLC25A32 (I287F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1955750	NM_030780.5(SLC25A32):c.325T>C (p.Tyr109His)	SLC25A32 (Y109H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1954250	NM_030780.5(SLC25A32):c.578C>T (p.Thr193Ile)	SLC25A32 (T193I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1951636	NM_030780.5(SLC25A32):c.553-11T>C	SLC25A32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1951529	NM_030780.5(SLC25A32):c.812+11G>A	SLC25A32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1939483	NM_030780.5(SLC25A32):c.272G>A (p.Gly91Asp)	SLC25A32 (G91D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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