ClinVar for Gene (Select 2232) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3051840	NM_024417.5(FDXR):c.669G>C (p.Val223=)	FDXR	Single nucleotide variant (synonymous variant +1 more)	FDXR-related condition	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 condition	GLikely pathogenic
Select item 3047920	NM_024417.5(FDXR):c.894G>A (p.Ser298=)	FDXR	Single nucleotide variant (synonymous variant +1 more)	FDXR-related condition	GLikely benign
Select item 3046914	NM_024417.5(FDXR):c.610-12C>A	FDXR (L206I)	Single nucleotide variant (missense variant +1 more)	FDXR-related condition	GLikely benign
Select item 3040711	NM_024417.5(FDXR):c.80-67C>T	FDXR (Q66*)	Single nucleotide variant (nonsense +1 more)	FDXR-related condition	GLikely benign
Select item 3040178	NM_024417.5(FDXR):c.178-56G>A	FDXR (G84E)	Single nucleotide variant (missense variant +1 more)	FDXR-related condition	GLikely benign
Select item 3039922	NM_024417.5(FDXR):c.1107A>T (p.Pro369=)	FDXR	Single nucleotide variant (synonymous variant +1 more)	FDXR-related condition	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 condition	GLikely benign
Select item 3039506	NM_024417.5(FDXR):c.1284G>A (p.Gly428=)	FDXR	Single nucleotide variant (synonymous variant +1 more)	FDXR-related condition	GLikely benign
Select item 3036154	NM_024417.5(FDXR):c.271-10G>T	FDXR	Single nucleotide variant (intron variant)	FDXR-related condition	GLikely benign
Select item 3034743	NM_024417.5(FDXR):c.348C>T (p.Asp116=)	FDXR	Single nucleotide variant (synonymous variant +2 more)	FDXR-related condition	GBenign
Select item 3034366	NM_024417.5(FDXR):c.1083G>A (p.Gly361=)	FDXR	Single nucleotide variant (synonymous variant +1 more)	FDXR-related condition	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 condition	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 condition	GUncertain significance
Select item 2612879	NM_024417.5(FDXR):c.74C>T (p.Thr25Ile)	FDXR, LOC112533667 (T25I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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	GRB2, HID1 +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)	Inborn genetic diseases +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)	FDXR-related condition +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-optic atrophy syndrome +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 +1 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
Select item 1278889	NM_024417.5(FDXR):c.178-2056=	FDXR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273931	NM_024417.5(FDXR):c.178-1748C>T	FDXR	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1265578	NM_024417.5(FDXR):c.610-92T>C	FDXR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263984	NM_024417.5(FDXR):c.178-2050T>C	FDXR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263146	NM_024417.5(FDXR):c.270+27G>C	FDXR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258815	NM_024417.5(FDXR):c.1346-9=	FDXR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258143	NM_024417.5(FDXR):c.508-38C>T	FDXR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248627	NM_024417.5(FDXR):c.178-261A>G	FDXR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247125	NC_000017.11:g.74873058T>C	FDXR, LOC112533667	Single nucleotide variant	not provided	GBenign
Select item 1242864	NM_024417.5(FDXR):c.*139C>A	FDXR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1237995	NM_024417.5(FDXR):c.271-15C>T	FDXR	Single nucleotide variant (intron variant)	Auditory neuropathy-optic atrophy syndrome +1 more	GBenign
Select item 1232741	NM_024417.5(FDXR):c.-37T>C	FDXR, LOC112533667	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1229261	NM_024417.5(FDXR):c.751C>T (p.Arg251Trp)	FDXR (R199W +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1222535	NM_024417.5(FDXR):c.507+98=	FDXR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222502	NM_024417.5(FDXR):c.508-32=	FDXR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222096	NM_024417.5(FDXR):c.609+12G>T	FDXR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217114	NM_024417.5(FDXR):c.1208C>T (p.Pro403Leu)	FDXR (P351L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1185063	NM_024417.5(FDXR):c.368del (p.Gln123fs)	FDXR (Q115fs +4 more)	Deletion (frameshift variant +2 more)	Auditory neuropathy-optic atrophy syndrome	GLikely pathogenic
Select item 1183174	NM_024417.5(FDXR):c.*230C>T	FDXR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1182692	NM_024417.5(FDXR):c.270+97=	FDXR	Variation (intron variant)	not provided	GBenign
Select item 1176693	NM_024417.5(FDXR):c.138_145del (p.Gly47fs)	FDXR (G47fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1176692	NM_024417.5(FDXR):c.683G>T (p.Arg228Leu)	FDXR (R176L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1176691	NM_024417.5(FDXR):c.1102G>A (p.Asp368Asn)	FDXR (D316N +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1174394	NM_024417.5(FDXR):c.508-49=	FDXR	Variation (intron variant)	not provided	GBenign
Select item 986189	NM_024417.5(FDXR):c.394-1G>C	FDXR	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 985143	NM_024417.5(FDXR):c.605T>G (p.Leu202Arg)	FDXR (L150R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 985142	NM_024417.5(FDXR):c.248C>T (p.Ala83Val)	FDXR (A114V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 983267	NM_024417.5(FDXR):c.463C>T (p.Arg155Trp)	FDXR (R103W +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GLikely pathogenic
Select item 872327	NM_024417.5(FDXR):c.1279G>T (p.Ala427Ser)	FDXR (A427S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign

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