NDUFS4[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1268522	NC_000005.10:g.53560400A>T	NDUFS4	Single nucleotide variant	not provided	GBenign
Select item 672591	NM_002495.4(NDUFS4):c.98+289A>G	NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292406	NM_002495.4(NDUFS4):c.99-102_99-101dup	NDUFS4	Duplication (intron variant)	not provided	GBenign
Select item 1241581	NM_002495.4(NDUFS4):c.99-101dup	NDUFS4	Duplication (intron variant)	not provided	GBenign
Select item 1178783	NM_002495.4(NDUFS4):c.99-103_99-101dup	NDUFS4	Duplication (intron variant)	not provided	GBenign
Select item 3006200	NM_002495.4(NDUFS4):c.99-12C>T	NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2848644	NM_002495.4(NDUFS4):c.99-7A>G	NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1941846	NM_002495.4(NDUFS4):c.99-6C>T	NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 496165	NM_002495.4(NDUFS4):c.99-1G>A	NDUFS4	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 2122088	NM_002495.4(NDUFS4):c.100T>C (p.Ser34Pro)	NDUFS4 (S34P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1903400	NM_002495.4(NDUFS4):c.101C>T (p.Ser34Leu)	NDUFS4 (S34L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 138492	NM_002495.4(NDUFS4):c.102G>A (p.Ser34=)	NDUFS4	Single nucleotide variant (synonymous variant +1 more)	Leigh syndrome +3 more	GConflicting classifications of pathogenicity
Select item 907333	NM_002495.4(NDUFS4):c.107G>A (p.Arg36Lys)	NDUFS4 (R36K)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome +2 more	GUncertain significance
Select item 3239850	NM_002495.4(NDUFS4):c.114del (p.Thr39fs)	NDUFS4 (T39fs)	Deletion (frameshift variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
Select item 2726536	NM_002495.4(NDUFS4):c.117A>G (p.Thr39=)	NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2885076	NM_002495.4(NDUFS4):c.123A>G (p.Arg41=)	NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1281601	NM_002495.4(NDUFS4):c.124T>C (p.Leu42=)	NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2200498	NM_002495.4(NDUFS4):c.131A>G (p.Gln44Arg)	NDUFS4 (Q44R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2676999	NM_002495.4(NDUFS4):c.136dup (p.Gln46fs)	NDUFS4 (Q46fs)	Duplication (frameshift variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
Select item 2747546	NM_002495.4(NDUFS4):c.141T>A (p.Thr47=)	NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2823119	NM_002495.4(NDUFS4):c.144A>G (p.Gln48=)	NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 385428	NM_002495.4(NDUFS4):c.150A>G (p.Thr50=)	NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2759372	NM_002495.4(NDUFS4):c.156C>T (p.Leu52=)	NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1463356	NM_002495.4(NDUFS4):c.160A>G (p.Thr54Ala)	NDUFS4 (T54A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2956756	NM_002495.4(NDUFS4):c.162A>G (p.Thr54=)	NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1943160	NM_002495.4(NDUFS4):c.167A>C (p.Asp56Ala)	NDUFS4 (D56A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2744985	NM_002495.4(NDUFS4):c.168T>C (p.Asp56=)	NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2781074	NM_002495.4(NDUFS4):c.177+7A>T	NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961703	NM_002495.4(NDUFS4):c.177+8T>G	NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793153	NM_002495.4(NDUFS4):c.177+14A>C	NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1935968	NM_002495.4(NDUFS4):c.177+14A>G	NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980275	NM_002495.4(NDUFS4):c.177+17A>C	NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213385	NM_002495.4(NDUFS4):c.178-308dup	NDUFS4	Duplication (intron variant)	not provided	GLikely benign
Select item 683100	NM_002495.4(NDUFS4):c.178-228G>A	NDUFS4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279941	NM_002495.4(NDUFS4):c.178-204C>T	NDUFS4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683102	NM_002495.4(NDUFS4):c.178-158A>G	NDUFS4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204466	NM_002495.4(NDUFS4):c.178-81A>G	NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022385	NM_002495.4(NDUFS4):c.178-19T>C	NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862084	NM_002495.4(NDUFS4):c.178-15dup	NDUFS4	Duplication (intron variant)	not provided	GLikely benign
Select item 2786286	NM_002495.4(NDUFS4):c.178-4G>A	NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 353889	NM_002495.4(NDUFS4):c.178-4G>C	NDUFS4	Single nucleotide variant (intron variant)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 488559	NM_002495.4(NDUFS4):c.178-2A>G	NDUFS4	Single nucleotide variant (splice acceptor variant)	Leigh syndrome	GPathogenic
Select item 2758562	NM_002495.4(NDUFS4):c.179dup (p.Asp60fs)	NDUFS4 (D60fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2700601	NM_002495.4(NDUFS4):c.189T>G (p.Thr63=)	NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2785273	NM_002495.4(NDUFS4):c.198A>T (p.Gly66=)	NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 129700	NM_002495.4(NDUFS4):c.198A>C (p.Gly66=)	NDUFS4	Single nucleotide variant (synonymous variant +1 more)	Leigh syndrome +3 more	GBenign
Select item 2109527	NM_002495.4(NDUFS4):c.208G>T (p.Glu70Ter)	NDUFS4 (E70*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3299069	NM_002495.4(NDUFS4):c.212A>G (p.His71Arg)	NDUFS4 (H71R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2855970	NM_002495.4(NDUFS4):c.219A>G (p.Lys73=)	NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2445773	NM_002495.4(NDUFS4):c.221del (p.Thr74fs)	NDUFS4 (T74fs)	Deletion (frameshift variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GPathogenic/Likely pathogenic
Select item 2612243	NM_002495.4(NDUFS4):c.226A>G (p.Lys76Glu)	NDUFS4 (K76E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2767185	NM_002495.4(NDUFS4):c.231C>T (p.Val77=)	NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2676993	NM_002495.4(NDUFS4):c.235del (p.Ile79fs)	NDUFS4 (I79fs)	Deletion (frameshift variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
Select item 1951121	NM_002495.4(NDUFS4):c.250C>T (p.Arg84Cys)	NDUFS4 (R84C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 214815	NM_002495.4(NDUFS4):c.251G>A (p.Arg84His)	NDUFS4 (R84H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2563492	NM_002495.4(NDUFS4):c.259A>G (p.Met87Val)	NDUFS4 (M87V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2836340	NM_002495.4(NDUFS4):c.261_262delinsTT (p.Met87_Gln88delinsIleTer)	NDUFS4	Indel (nonsense +1 more)	not provided	GPathogenic
Select item 3188335	NM_002495.4(NDUFS4):c.263A>G (p.Gln88Arg)	NDUFS4 (Q88R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529198	NM_002495.4(NDUFS4):c.266C>A (p.Ser89Tyr)	NDUFS4 (S89Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1981931	NM_002495.4(NDUFS4):c.278A>G (p.Asn93Ser)	NDUFS4 (N93S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2829693	NM_002495.4(NDUFS4):c.279C>T (p.Asn93=)	NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 6888	NM_002495.4(NDUFS4):c.291del (p.Lys96_Trp97insTer)	NDUFS4	Deletion (nonsense +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GPathogenic
Select item 3299070	NM_002495.4(NDUFS4):c.295A>G (p.Met99Val)	NDUFS4 (M99V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3239849	NM_002495.4(NDUFS4):c.295del (p.Met99fs)	NDUFS4 (M99fs)	Deletion (frameshift variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
Select item 2851671	NM_002495.4(NDUFS4):c.298G>T (p.Glu100Ter)	NDUFS4 (E100*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2478694	NM_002495.4(NDUFS4):c.299A>G (p.Glu100Gly)	NDUFS4 (E100G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3002908	NM_002495.4(NDUFS4):c.309C>A (p.Thr103=)	NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 129701	NM_002495.4(NDUFS4):c.312A>G (p.Arg104=)	NDUFS4	Single nucleotide variant (synonymous variant +1 more)	Leigh syndrome +2 more	GBenign
Select item 2790167	NM_002495.4(NDUFS4):c.315G>A (p.Glu105=)	NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 6889	NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter)	NDUFS4 (R106*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GPathogenic
Select item 2231090	NM_002495.4(NDUFS4):c.319_322del (p.Trp107fs)	NDUFS4 (W107fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 2847065	NM_002495.4(NDUFS4):c.320G>A (p.Trp107Ter)	NDUFS4 (W107*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2780848	NM_002495.4(NDUFS4):c.324A>G (p.Glu108=)	NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 933849	NM_002495.4(NDUFS4):c.340T>C (p.Trp114Arg)	NDUFS4 (W114R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2676996	NM_002495.4(NDUFS4):c.342G>A (p.Trp114Ter)	NDUFS4 (W114*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
Select item 2708848	NM_002495.4(NDUFS4):c.350+1G>C	NDUFS4	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2500769	NM_002495.4(NDUFS4):c.350+1G>T	NDUFS4	Single nucleotide variant (splice donor variant)	Leigh syndrome	GPathogenic
Select item 1693584	NM_002495.4(NDUFS4):c.350+1G>A	NDUFS4	Single nucleotide variant (splice donor variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GPathogenic/Likely pathogenic
Select item 930177	NM_002495.4(NDUFS4):c.350+5G>A	NDUFS4	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GPathogenic
Select item 903998	NM_002495.4(NDUFS4):c.350+6T>C	NDUFS4	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 2960056	NM_002495.4(NDUFS4):c.350+13T>C	NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839436	NM_002495.4(NDUFS4):c.350+18A>G	NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858230	NM_002495.4(NDUFS4):c.350+19T>C	NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683104	NM_002495.4(NDUFS4):c.350+174_350+175del	NDUFS4	Deletion (intron variant)	not provided	GBenign
Select item 683106	NM_002495.4(NDUFS4):c.350+228C>T	NDUFS4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669915	NM_002495.4(NDUFS4):c.350+296dup	NDUFS4	Duplication (intron variant)	not provided	GBenign
Select item 1180205	NM_002495.4(NDUFS4):c.351-101G>A	NDUFS4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193293	NM_002495.4(NDUFS4):c.351-66A>C	NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967999	NM_002495.4(NDUFS4):c.351-14T>A	NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 353890	NM_002495.4(NDUFS4):c.351-11_351-8del	NDUFS4	Deletion (intron variant)	Mitochondrial complex I deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2857460	NM_002495.4(NDUFS4):c.351-13T>G	NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2891486	NM_002495.4(NDUFS4):c.351-10T>C	NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798649	NM_002495.4(NDUFS4):c.351-5T>C	NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2676998	NM_002495.4(NDUFS4):c.351-2A>C	NDUFS4	Single nucleotide variant (splice acceptor variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
Select item 2671778	NM_002495.4(NDUFS4):c.351-2A>G	NDUFS4	Single nucleotide variant (splice acceptor variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
Select item 2502291	NM_002495.4(NDUFS4):c.351-1G>C	NDUFS4	Single nucleotide variant (splice acceptor variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
Select item 587577	NM_002495.4(NDUFS4):c.355G>C (p.Asp119His)	NDUFS4 (D119H)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GLikely pathogenic
Select item 2011619	NM_002495.4(NDUFS4):c.356A>G (p.Asp119Gly)	NDUFS4 (D119G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2711416	NM_002495.4(NDUFS4):c.360del (p.Leu121fs)	NDUFS4 (L121fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2869064	NM_002495.4(NDUFS4):c.360C>T (p.Pro120=)	NDUFS4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign

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