ClinVar for Gene (Select 2232) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3514586	NM_024417.5(FDXR):c.478T>G (p.Trp160Gly)	FDXR (W120G +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3514585	NM_024417.5(FDXR):c.193G>A (p.Val65Met)	FDXR (V108M +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3514584	NM_024417.5(FDXR):c.1231A>T (p.Met411Leu)	FDXR (M411L +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3514583	NM_024417.5(FDXR):c.158C>T (p.Thr53Met)	FDXR (T53M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3388970	NM_024417.5(FDXR):c.873G>A (p.Ala291=)	FDXR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3382533	NM_024417.5(FDXR):c.698A>G (p.Gln233Arg)	FDXR (Q181R +6 more)	Single nucleotide variant (missense variant +1 more)	Auditory neuropathy-optic atrophy syndrome	GUncertain significance
Select item 3380515	NM_024417.5(FDXR):c.1008C>T (p.Val336=)	FDXR	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3368635	NM_024417.5(FDXR):c.192C>A (p.His64Gln)	FDXR (H107Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3353105	NM_024417.5(FDXR):c.809C>A (p.Pro270His)	FDXR (P218H +6 more)	Single nucleotide variant (missense variant +1 more)	FDXR-related disorder	GUncertain significance
Select item 3348235	NM_024417.5(FDXR):c.178-78T>C	FDXR (S77P)	Single nucleotide variant (missense variant +1 more)	FDXR-related disorder	GUncertain significance
Select item 3278463	NM_024417.5(FDXR):c.1348G>A (p.Val450Ile)	FDXR (V450I +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3278462	NM_024417.5(FDXR):c.1066G>C (p.Val356Leu)	FDXR (V316L +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3278461	NM_024417.5(FDXR):c.314G>C (p.Cys105Ser)	FDXR (C136S +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3278460	NM_024417.5(FDXR):c.830C>T (p.Thr277Met)	FDXR (T225M +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3278459	NM_024417.5(FDXR):c.353C>T (p.Thr118Met)	FDXR (T118M +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3252092	c.1002+1G-A	FDXR	Single nucleotide variant	Multiple mitochondrial dysfunctions syndrome 9b	GPathogenic
Select item 3252085	NM_024417.5(FDXR):c.178-86C>T	FDXR (P74L)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 9b	GPathogenic
Select item 3250159	NM_024417.5(FDXR):c.1351C>T (p.Arg451Trp)	FDXR (R399W +6 more)	Single nucleotide variant (missense variant +1 more)	Optic atrophy	GUncertain significance
Select item 3249218	NM_024417.5(FDXR):c.893C>T (p.Ser298Leu)	FDXR (S246L +6 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3249173	NM_024417.5(FDXR):c.1044G>A (p.Met348Ile)	FDXR (M296I +6 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3094357	NM_024417.5(FDXR):c.766C>T (p.Pro256Ser)	FDXR (P204S +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3094356	NM_024417.5(FDXR):c.752G>A (p.Arg251Gln)	FDXR (R251Q +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3094355	NM_024417.5(FDXR):c.749C>T (p.Ala250Val)	FDXR (A293V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3094354	NM_024417.5(FDXR):c.725G>A (p.Arg242Gln)	FDXR (R202Q +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3094353	NM_024417.5(FDXR):c.683G>C (p.Arg228Pro)	FDXR (R228P +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3094352	NM_024417.5(FDXR):c.574G>T (p.Ala192Ser)	FDXR (A192S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3094351	NM_024417.5(FDXR):c.412C>T (p.His138Tyr)	FDXR (H130Y +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3094350	NM_024417.5(FDXR):c.296C>T (p.Thr99Met)	FDXR (T142M +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3094349	NM_024417.5(FDXR):c.24G>T (p.Trp8Cys)	FDXR, LOC112533667 (W8C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3051840	NM_024417.5(FDXR):c.669G>C (p.Val223=)	FDXR	Single nucleotide variant (synonymous variant +1 more)	FDXR-related disorder	GLikely benign
Select item 3048648	NM_024417.5(FDXR):c.3G>A (p.Met1Ile)	FDXR, LOC112533667 (M1I)	Single nucleotide variant (missense variant +2 more)	FDXR-related disorder	GLikely pathogenic
Select item 3047920	NM_024417.5(FDXR):c.894G>A (p.Ser298=)	FDXR	Single nucleotide variant (synonymous variant +1 more)	FDXR-related disorder	GLikely benign
Select item 3046914	NM_024417.5(FDXR):c.610-12C>A	FDXR (L206I)	Single nucleotide variant (missense variant +1 more)	FDXR-related disorder	GLikely benign
Select item 3040711	NM_024417.5(FDXR):c.80-67C>T	FDXR (Q66*)	Single nucleotide variant (nonsense +1 more)	FDXR-related disorder	GLikely benign
Select item 3040178	NM_024417.5(FDXR):c.178-56G>A	FDXR (G84E)	Single nucleotide variant (missense variant +1 more)	FDXR-related disorder	GLikely benign
Select item 3039922	NM_024417.5(FDXR):c.1107A>T (p.Pro369=)	FDXR	Single nucleotide variant (synonymous variant +1 more)	FDXR-related disorder	GBenign
Select item 3039556	NM_024417.5(FDXR):c.845G>A (p.Arg282Gln)	FDXR (R230Q +6 more)	Single nucleotide variant (missense variant +1 more)	FDXR-related disorder	GLikely benign
Select item 3039506	NM_024417.5(FDXR):c.1284G>A (p.Gly428=)	FDXR	Single nucleotide variant (synonymous variant +1 more)	FDXR-related disorder	GLikely benign
Select item 3036154	NM_024417.5(FDXR):c.271-10G>T	FDXR	Single nucleotide variant (intron variant)	FDXR-related disorder	GLikely benign
Select item 3034743	NM_024417.5(FDXR):c.348C>T (p.Asp116=)	FDXR	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3034366	NM_024417.5(FDXR):c.1083G>A (p.Gly361=)	FDXR	Single nucleotide variant (synonymous variant +1 more)	FDXR-related disorder	GLikely benign
Select item 2662715	NM_024417.5(FDXR):c.205G>A (p.Glu69Lys)	FDXR (E100K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662381	NM_024417.5(FDXR):c.1114C>T (p.Pro372Ser)	FDXR (P320S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2648242	NM_024417.5(FDXR):c.178-88T>C	FDXR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648241	NM_024417.5(FDXR):c.261C>T (p.Pro87=)	FDXR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648240	NM_024417.5(FDXR):c.381C>T (p.His127=)	FDXR	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2648239	NM_024417.5(FDXR):c.570C>T (p.Asp190=)	FDXR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648238	NM_024417.5(FDXR):c.831G>A (p.Thr277=)	FDXR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2636154	NM_024417.5(FDXR):c.1093C>T (p.Arg365Cys)	FDXR (R313C +6 more)	Single nucleotide variant (missense variant +1 more)	FDXR-related disorder	GUncertain significance
Select item 2629406	NM_024417.5(FDXR):c.724C>T (p.Arg242Trp)	FDXR (R190W +6 more)	Single nucleotide variant (missense variant +1 more)	FDXR-related disorder	GUncertain significance
Select item 2612879	NM_024417.5(FDXR):c.74C>T (p.Thr25Ile)	FDXR, LOC112533667 (T25I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2596253	NM_024417.5(FDXR):c.884G>T (p.Arg295Leu)	FDXR (R243L +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2573838	NM_024417.5(FDXR):c.1328C>A (p.Ala443Asp)	FDXR (A391D +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2573758	NM_024417.5(FDXR):c.1022G>A (p.Arg341His)	FDXR (R289H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2515070	NM_024417.5(FDXR):c.419C>T (p.Ala140Val)	FDXR (A140V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2498731	GRCh37/hg19 17q25.1(chr17:72864876-73328878)x1	ARMC7, ATP5PD +19 more	Copy number loss	not provided	GUncertain significance
Select item 2495722	NM_024417.5(FDXR):c.856G>C (p.Glu286Gln)	FDXR (E278Q +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471652	NM_024417.5(FDXR):c.430C>A (p.Pro144Thr)	FDXR (P144T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459630	NM_024417.5(FDXR):c.811C>T (p.Arg271Cys)	FDXR (R219C +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456060	NM_024417.5(FDXR):c.1150G>A (p.Glu384Lys)	FDXR (E415K +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2446585	NM_024417.5(FDXR):c.1003-6C>G	FDXR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2441730	NM_024417.5(FDXR):c.682C>T (p.Arg228Trp)	FDXR (R176W +6 more)	Single nucleotide variant (missense variant +1 more)	Auditory neuropathy-optic atrophy syndrome	GUncertain significance
Select item 2411935	NM_024417.5(FDXR):c.1043T>A (p.Met348Lys)	FDXR (M354K +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409671	NM_024417.5(FDXR):c.403G>A (p.Ala135Thr)	FDXR (A127T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404675	NM_024417.5(FDXR):c.820A>G (p.Lys274Glu)	FDXR (K222E +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2384203	NM_024417.5(FDXR):c.359C>T (p.Pro120Leu)	FDXR (P120L +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2379129	NM_024417.5(FDXR):c.493C>T (p.Pro165Ser)	FDXR (P165S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375507	NM_024417.5(FDXR):c.1094G>A (p.Arg365His)	FDXR (R357H +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370728	NM_024417.5(FDXR):c.4G>A (p.Ala2Thr)	FDXR, LOC112533667 (A2T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369765	NM_024417.5(FDXR):c.1210A>G (p.Thr404Ala)	FDXR (T404A +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342342	NM_024417.5(FDXR):c.730A>T (p.Met244Leu)	FDXR (M236L +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282911	NM_024417.5(FDXR):c.275T>A (p.Val92Asp)	FDXR (V135D +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2263800	NM_024417.5(FDXR):c.778_779dup (p.Leu260fs)	FDXR (L252fs +6 more)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2246536	NM_024417.5(FDXR):c.434G>T (p.Gly145Val)	FDXR (G145V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230793	NM_024417.5(FDXR):c.931C>A (p.Pro311Thr)	FDXR (P317T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229961	NM_024417.5(FDXR):c.1367C>G (p.Ser456Ter)	FDXR (S404* +6 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217230	NM_024417.5(FDXR):c.559G>A (p.Val187Met)	FDXR (V218M +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216261	NM_024417.5(FDXR):c.743C>T (p.Pro248Leu)	FDXR (P279L +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213698	NM_024417.5(FDXR):c.538G>A (p.Val180Met)	FDXR (V180M +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2212472	NM_024417.5(FDXR):c.1027G>A (p.Val343Met)	FDXR (V303M +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1805721	NM_024417.5(FDXR):c.623C>T (p.Thr208Met)	FDXR (T156M +6 more)	Single nucleotide variant (missense variant +1 more)	Auditory neuropathy +1 more	GConflicting classifications of pathogenicity
Select item 1804335	NM_024417.5(FDXR):c.1474T>C (p.Ter492Arg)	FDXR	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 1804318	NM_024417.5(FDXR):c.80-171C>G	FDXR (S31*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1803971	NM_024417.5(FDXR):c.332T>C (p.Val111Ala)	FDXR (V103A +4 more)	Single nucleotide variant (missense variant +2 more)	Auditory neuropathy-optic atrophy syndrome	GPathogenic
Select item 1803970	NM_024417.5(FDXR):c.564_575del (p.Leu189_Ala192del)	FDXR	Deletion (inframe_deletion +1 more)	Auditory neuropathy-optic atrophy syndrome	GPathogenic
Select item 1711446	NM_024417.5(FDXR):c.578G>A (p.Arg193His)	FDXR (R141H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1708677	NM_024417.5(FDXR):c.1194G>T (p.Trp398Cys)	FDXR (W346C +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1703927	NM_024417.5(FDXR):c.475G>A (p.Gly159Ser)	FDXR (G107S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1703918	NM_024417.5(FDXR):c.1006G>C (p.Val336Leu)	FDXR (V284L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1699164	NM_024417.5(FDXR):c.1459C>T (p.Arg487Cys)	FDXR (R435C +6 more)	Single nucleotide variant (missense variant +1 more)	Auditory neuropathy-optic atrophy syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1684741	NM_024417.5(FDXR):c.1252G>A (p.Gly418Ser)	FDXR (G366S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1526076	NM_024417.5(FDXR):c.1454T>C (p.Met485Thr)	FDXR (M433T +6 more)	Single nucleotide variant (missense variant +1 more)	Auditory neuropathy-optic atrophy syndrome	GUncertain significance
Select item 1491548	NM_024417.5(FDXR):c.507+1G>A	FDXR	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1343029	NM_024417.5(FDXR):c.236G>A (p.Arg79His)	FDXR (R110H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1343028	NM_024417.5(FDXR):c.685C>T (p.Arg229Cys)	FDXR (R177C +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1341646	NM_024417.5(FDXR):c.178-20G>A	FDXR (C96Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1339003	NM_024417.5(FDXR):c.926G>A (p.Arg309Gln)	FDXR (R257Q +6 more)	Single nucleotide variant (missense variant +1 more)	Auditory neuropathy-optic atrophy syndrome	GUncertain significance
Select item 1289425	NM_024417.5(FDXR):c.750C>T (p.Ala250=)	FDXR	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1287257	NM_024417.5(FDXR):c.178-280=	FDXR	Single nucleotide variant (intron variant)	not provided	GBenign

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