ClinVar for Gene (Select 291) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319244	NM_001151.4(SLC25A4):c.662C>G (p.Thr221Arg)	SLC25A4 (T221R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246717	NC_000004.11:g.(?_186064502)_(187630981_?)dup	ANKRD37, CCDC110 +15 more	Duplication	not provided	GUncertain significance
Select item 3236732	NM_001151.4(SLC25A4):c.448G>A (p.Ala150Thr)	SLC25A4 (A150T)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 +1 more	GUncertain significance
Select item 3163739	NM_001151.4(SLC25A4):c.850G>A (p.Gly284Ser)	SLC25A4 (G284S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163738	NM_001151.4(SLC25A4):c.65C>A (p.Ser22Tyr)	SLC25A4 (S22Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163737	NM_001151.4(SLC25A4):c.478T>C (p.Cys160Arg)	SLC25A4 (C160R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163736	NM_001151.4(SLC25A4):c.340G>A (p.Ala114Thr)	SLC25A4 (A114T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065047	NM_001151.4(SLC25A4):c.47G>A (p.Gly16Asp)	SLC25A4 (G16D)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062803	GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	AADAT, ACSL1 +85 more	Copy number loss	not specified	GPathogenic
Select item 3062801	GRCh37/hg19 4q35.1(chr4:184752570-186308447)x3	ACSL1, CASP3 +10 more	Copy number gain	not specified	GUncertain significance
Select item 3062775	GRCh37/hg19 4q34.1-35.1(chr4:175496275-186495932)x1	ACSL1, ADAM29 +34 more	Copy number loss	not specified	GPathogenic
Select item 3062773	GRCh37/hg19 4q35.1(chr4:184577681-186368031)x3	ACSL1, ANKRD37 +16 more	Copy number gain	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3061730	NM_001151.4(SLC25A4):c.651C>A (p.Ala217=)	SLC25A4	Single nucleotide variant (synonymous variant)	SLC25A4-related disorder	GLikely benign
Select item 3028991	NM_001151.4(SLC25A4):c.189G>A (p.Lys63=)	SLC25A4	Single nucleotide variant (synonymous variant)	SLC25A4-related disorder	GLikely benign
Select item 3024634	GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	AADAT, ACSL1 +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	CAMK2D, GIMD1 +537 more	Copy number gain	not provided	GPathogenic
Select item 3001655	NM_001151.4(SLC25A4):c.111+17G>A	SLC25A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998168	NM_001151.4(SLC25A4):c.75G>A (p.Ala25=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985464	NM_001151.4(SLC25A4):c.14C>G (p.Ala5Gly)	SLC25A4 (A5G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985399	NM_001151.4(SLC25A4):c.302G>T (p.Gly101Val)	SLC25A4 (G101V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966287	NM_001151.4(SLC25A4):c.800C>T (p.Ala267Val)	SLC25A4 (A267V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962251	NM_001151.4(SLC25A4):c.75G>C (p.Ala25=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856257	NM_001151.4(SLC25A4):c.471G>C (p.Leu157=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849387	NM_001151.4(SLC25A4):c.276G>A (p.Lys92=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845114	NM_001151.4(SLC25A4):c.27A>G (p.Leu9=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840251	NM_001151.4(SLC25A4):c.58G>A (p.Ala20Thr)	SLC25A4 (A20T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800287	NM_001151.4(SLC25A4):c.222C>A (p.Asn74Lys)	SLC25A4 (N74K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799371	NM_001151.4(SLC25A4):c.339T>C (p.Phe113=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797991	NM_001151.4(SLC25A4):c.878A>C (p.Glu293Ala)	SLC25A4 (E293A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792985	NM_001151.4(SLC25A4):c.321G>T (p.Lys107Asn)	SLC25A4 (K107N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790678	NM_001151.4(SLC25A4):c.417C>T (p.Thr139=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789143	NM_001151.4(SLC25A4):c.444C>G (p.Gly148=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787354	NM_001151.4(SLC25A4):c.709A>G (p.Arg237Gly)	SLC25A4 (R237G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2782273	NM_001151.4(SLC25A4):c.740-15C>T	SLC25A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2766198	NM_001151.4(SLC25A4):c.739+3A>G	SLC25A4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2756661	NM_001151.4(SLC25A4):c.628A>G (p.Ile210Val)	SLC25A4 (I210V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2743722	NM_001151.4(SLC25A4):c.740-3C>T	SLC25A4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2730955	NM_001151.4(SLC25A4):c.324G>A (p.Gln108=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2728118	NM_001151.4(SLC25A4):c.389T>G (p.Phe130Cys)	SLC25A4 (F130C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2727483	NM_001151.4(SLC25A4):c.205T>A (p.Ser69Thr)	SLC25A4 (S69T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2726552	NM_001151.4(SLC25A4):c.690del (p.Phe231fs)	SLC25A4 (F231fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2726030	NM_001151.4(SLC25A4):c.868T>G (p.Leu290Val)	SLC25A4 (L290V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721914	NM_001151.4(SLC25A4):c.447C>G (p.Ala149=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2714682	NM_001151.4(SLC25A4):c.345T>C (p.Gly115=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2703000	NM_001151.4(SLC25A4):c.711A>G (p.Arg237=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684402	GRCh37/hg19 4q35.1(chr4:185978584-186403683)x3	ANKRD37, CCDC110 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684399	GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3	AADAT, ACSL1 +69 more	Copy number gain	not provided	GPathogenic
Select item 2682876	NM_001151.4(SLC25A4):c.571T>G (p.Tyr191Asp)	SLC25A4 (Y191D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671903	NM_001151.4(SLC25A4):c.706C>T (p.Arg236Cys)	SLC25A4 (R236C)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive	GUncertain significance
Select item 2671582	Single allele	MTNR1A, PDLIM3 +36 more	Deletion	not provided	GPathogenic
Select item 2663295	NM_001151.4(SLC25A4):c.607C>T (p.Pro203Ser)	SLC25A4 (P203S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655209	NM_001151.4(SLC25A4):c.81C>T (p.Ala27=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637533	NM_001151.4(SLC25A4):c.-15C>A	SLC25A4	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2588923	NM_001151.4(SLC25A4):c.436G>A (p.Gly146Ser)	SLC25A4 (G146S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2581490	NM_001151.4(SLC25A4):c.60C>A (p.Ala20=)	SLC25A4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2539005	NM_001151.4(SLC25A4):c.292C>G (p.Leu98Val)	SLC25A4 (L98V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476924	NM_001151.4(SLC25A4):c.332G>T (p.Arg111Leu)	SLC25A4 (R111L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2423888	NC_000004.11:g.(?_186064502)_(186068125_?)dup	SLC25A4	Duplication	not provided	GUncertain significance
Select item 2280758	NM_001151.4(SLC25A4):c.877G>A (p.Glu293Lys)	SLC25A4 (E293K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2196124	NM_001151.4(SLC25A4):c.354G>T (p.Ala118=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189140	NM_001151.4(SLC25A4):c.421T>C (p.Leu141=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182168	NM_001151.4(SLC25A4):c.882C>A (p.Ile294=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2164878	NM_001151.4(SLC25A4):c.670G>T (p.Ala224Ser)	SLC25A4 (A224S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132068	NM_001151.4(SLC25A4):c.525G>T (p.Gln175His)	SLC25A4 (Q175H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2131764	NM_001151.4(SLC25A4):c.369T>C (p.Ala123=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2118909	NM_001151.4(SLC25A4):c.283_288dup (p.Lys96_Gln97insTyrLys)	SLC25A4	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2113960	NM_001151.4(SLC25A4):c.253C>T (p.Gln85Ter)	SLC25A4 (Q85*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2110312	NM_001151.4(SLC25A4):c.129A>G (p.Lys43=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2107999	NM_001151.4(SLC25A4):c.469C>A (p.Leu157Met)	SLC25A4 (L157M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2107821	NM_001151.4(SLC25A4):c.111+8C>T	SLC25A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2105277	NM_001151.4(SLC25A4):c.354G>A (p.Ala118=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2104483	NM_001151.4(SLC25A4):c.741C>G (p.Ala247=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2102571	NM_001151.4(SLC25A4):c.96C>G (p.Val32=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2101619	NM_001151.4(SLC25A4):c.278A>G (p.Asp93Gly)	SLC25A4 (D93G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098505	NM_001151.4(SLC25A4):c.107dup (p.Gln37fs)	SLC25A4 (Q37fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2097787	NM_001151.4(SLC25A4):c.454C>T (p.Arg152Cys)	SLC25A4 (R152C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082360	NM_001151.4(SLC25A4):c.546A>G (p.Gln182=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2078754	NM_001151.4(SLC25A4):c.792C>T (p.Asp264=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2077831	NM_001151.4(SLC25A4):c.81C>G (p.Ala27=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2072882	NM_001151.4(SLC25A4):c.516G>A (p.Gly172=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2072006	NM_001151.4(SLC25A4):c.481A>G (p.Ile161Val)	SLC25A4 (I161V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2066312	NM_001151.4(SLC25A4):c.741C>T (p.Ala247=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2050336	NM_001151.4(SLC25A4):c.740-19C>A	SLC25A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2044209	NM_001151.4(SLC25A4):c.572A>G (p.Tyr191Cys)	SLC25A4 (Y191C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022865	NM_001151.4(SLC25A4):c.316_324dup (p.Gln108_Phe109insHisLysGln)	SLC25A4	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2019911	NM_001151.4(SLC25A4):c.131_134dup (p.Ser46fs)	SLC25A4 (S46fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2018157	NM_001151.4(SLC25A4):c.598+16C>G	SLC25A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2002908	NM_001151.4(SLC25A4):c.739+5G>C	SLC25A4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1990824	NM_001151.4(SLC25A4):c.187A>G (p.Lys63Glu)	SLC25A4 (K63E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985072	NM_001151.4(SLC25A4):c.598+9G>C	SLC25A4	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1983119	NM_001151.4(SLC25A4):c.687C>T (p.Tyr229=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1983118	NM_001151.4(SLC25A4):c.679G>C (p.Val227Leu)	SLC25A4 (V227L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977101	NM_001151.4(SLC25A4):c.444C>T (p.Gly148=)	SLC25A4	Single nucleotide variant (synonymous variant)	SLC25A4-related disorder +1 more	GLikely benign
Select item 1968068	NM_001151.4(SLC25A4):c.548G>A (p.Gly183Asp)	SLC25A4 (G183D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1967270	NM_001151.4(SLC25A4):c.73G>A (p.Ala25Thr)	SLC25A4 (A25T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1966912	NM_001151.4(SLC25A4):c.164T>C (p.Ile55Thr)	SLC25A4 (I55T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1959924	NM_001151.4(SLC25A4):c.648T>C (p.Ile216=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954023	NM_001151.4(SLC25A4):c.654G>A (p.Gln218=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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