SLC25A32[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153234	GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1	ANKRD46, ATP6V1C1 +234 more	Copy number loss	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 149076	GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1	RRM2B, RSPO2 +188 more	Copy number loss	See cases	GPathogenic
Select item 147649	GRCh38/hg38 8q22.3-23.1(chr8:101199826-105802098)x1	ATP6V1C1, AZIN1 +154 more	Copy number loss	See cases	GPathogenic
Select item 144641	GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1	ABRA, ANGPT1 +154 more	Copy number loss	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 1256934	NM_030780.5(SLC25A32):c.*251G>T	SLC25A32	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1244810	NM_030780.5(SLC25A32):c.*164del	SLC25A32	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1289510	NM_030780.5(SLC25A32):c.*122T>A	SLC25A32	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1316181	NM_030780.5(SLC25A32):c.*4C>T	SLC25A32	Single nucleotide variant (3 prime UTR 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 1617024	NM_030780.5(SLC25A32):c.927C>T (p.Asp309=)	SLC25A32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1903160	NM_030780.5(SLC25A32):c.914A>G (p.His305Arg)	SLC25A32 (H305R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 772905	NM_030780.5(SLC25A32):c.899A>G (p.Tyr300Cys)	SLC25A32 (Y300C)	Single nucleotide variant (missense variant +1 more)	Exercise intolerance, riboflavin-responsive +1 more	GBenign/Likely benign
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 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 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 2005381	NM_030780.5(SLC25A32):c.828_830del (p.Gly277del)	SLC25A32 (G277del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1535775	NM_030780.5(SLC25A32):c.826G>A (p.Gly276Ser)	SLC25A32 (G276S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 2080350	NM_030780.5(SLC25A32):c.822C>T (p.Gly274=)	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 1658583	NM_030780.5(SLC25A32):c.813-11dup	SLC25A32	Duplication (intron variant)	not provided	GBenign
Select item 1241405	NM_030780.5(SLC25A32):c.813-56G>A	SLC25A32	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226904	NM_030780.5(SLC25A32):c.813-161G>A	SLC25A32	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267556	NM_030780.5(SLC25A32):c.812+243G>A	SLC25A32	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238386	NM_030780.5(SLC25A32):c.812+208_812+209insG	SLC25A32	Insertion (intron variant)	not provided	GBenign
Select item 1600030	NM_030780.5(SLC25A32):c.812+20C>A	SLC25A32	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2971302	NM_030780.5(SLC25A32):c.812+16A>G	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 1983022	NM_030780.5(SLC25A32):c.812+10C>T	SLC25A32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248189	NM_030780.5(SLC25A32):c.812+10C>A	SLC25A32	Single nucleotide variant (intron variant)	not provided	GBenign
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 2748229	NM_030780.5(SLC25A32):c.798_808dup (p.Trp270fs)	SLC25A32 (W270fs)	Duplication (frameshift 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 1934180	NM_030780.5(SLC25A32):c.801A>G (p.Thr267=)	SLC25A32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1635913	NM_030780.5(SLC25A32):c.742G>A (p.Val248Ile)	SLC25A32 (V248I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 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 2883597	NM_030780.5(SLC25A32):c.717C>T (p.Val239=)	SLC25A32	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1938933	NM_030780.5(SLC25A32):c.715G>A (p.Val239Ile)	SLC25A32 (V239I)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 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 1626826	NM_030780.5(SLC25A32):c.693A>G (p.Ala231=)	SLC25A32	Single nucleotide variant (synonymous 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 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 1388115	NM_030780.5(SLC25A32):c.682A>G (p.Ile228Val)	SLC25A32 (I228V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1908464	NM_030780.5(SLC25A32):c.681T>C (p.Tyr227=)	SLC25A32	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1927532	NM_030780.5(SLC25A32):c.667-14T>C	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 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 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 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 2120725	NM_030780.5(SLC25A32):c.651A>G (p.Leu217=)	SLC25A32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1933279	NM_030780.5(SLC25A32):c.582G>A (p.Ser194=)	SLC25A32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1901447	NM_030780.5(SLC25A32):c.581C>T (p.Ser194Leu)	SLC25A32 (S194L)	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 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 1914016	NM_030780.5(SLC25A32):c.554G>A (p.Gly185Glu)	SLC25A32 (G185E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2986306	NM_030780.5(SLC25A32):c.553-4G>A	SLC25A32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1621624	NM_030780.5(SLC25A32):c.553-7C>T	SLC25A32	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1951636	NM_030780.5(SLC25A32):c.553-11T>C	SLC25A32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1577965	NM_030780.5(SLC25A32):c.553-13C>A	SLC25A32	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280432	NM_030780.5(SLC25A32):c.553-56A>G	SLC25A32	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263808	NM_030780.5(SLC25A32):c.553-311T>C	SLC25A32	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253835	NM_030780.5(SLC25A32):c.552+274G>A	SLC25A32	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2790157	NM_030780.5(SLC25A32):c.552+20T>G	SLC25A32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988072	NM_030780.5(SLC25A32):c.552+19A>G	SLC25A32	Single nucleotide variant (intron variant)	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 219326	NM_030780.5(SLC25A32):c.548A>G (p.Tyr183Cys)	SLC25A32 (Y183C)	Single nucleotide variant (missense 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 2045723	NM_030780.5(SLC25A32):c.539G>A (p.Arg180His)	SLC25A32 (R180H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
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 1419872	NM_030780.5(SLC25A32):c.538C>T (p.Arg180Cys)	SLC25A32 (R180C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1927975	NM_030780.5(SLC25A32):c.537G>A (p.Val179=)	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 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 2046578	NM_030780.5(SLC25A32):c.488A>G (p.Tyr163Cys)	SLC25A32 (Y163C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1353571	NM_030780.5(SLC25A32):c.481C>T (p.Arg161Ter)	SLC25A32 (R161*)	Single nucleotide variant (nonsense +1 more)	not provided	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 2118433	NM_030780.5(SLC25A32):c.462T>A (p.Ala154=)	SLC25A32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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

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