ClinVar for Gene (Select 4724) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3251359	NM_002495.4(NDUFS4):c.1A>T (p.Met1Leu)	LOC129993885, NDUFS4 (M1L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3246502	NC_000005.9:g.(?_52954361)_(52954474_?)del	NDUFS4	Deletion	not provided	GPathogenic
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 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 3239848	NM_002495.4(NDUFS4):c.20C>G (p.Ser7Ter)	LOC129993885, NDUFS4 (S7*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
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 3062842	GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1	ACTBL2, ANKRD55 +35 more	Copy number loss	not specified	GLikely pathogenic
Select item 3043108	NM_002495.4(NDUFS4):c.-7C>T	LOC129993885, NDUFS4	Single nucleotide variant (5 prime UTR variant +1 more)	NDUFS4-related disorder	GLikely benign
Select item 3038229	NM_002495.4(NDUFS4):c.60G>C (p.Val20=)	LOC129993885, NDUFS4	Single nucleotide variant (synonymous variant +1 more)	NDUFS4-related disorder	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 3014167	NM_002495.4(NDUFS4):c.477T>C (p.Ser159=)	NDUFS4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3006200	NM_002495.4(NDUFS4):c.99-12C>T	NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2997603	NM_002495.4(NDUFS4):c.483T>G (p.Gly161=)	NDUFS4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2993534	NM_002495.4(NDUFS4):c.72C>T (p.Ala24=)	LOC129993885, NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2992892	NM_002495.4(NDUFS4):c.87G>A (p.Arg29=)	LOC129993885, NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2992792	NM_002495.4(NDUFS4):c.480T>C (p.Tyr160=)	NDUFS4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2987884	NM_002495.4(NDUFS4):c.425-9T>C	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 2978854	NM_002495.4(NDUFS4):c.42G>A (p.Leu14=)	LOC129993885, NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2973500	NM_002495.4(NDUFS4):c.424+7T>G	NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972363	NM_002495.4(NDUFS4):c.471C>G (p.Ser157=)	NDUFS4	Single nucleotide variant (3 prime UTR variant +2 more)	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 2961703	NM_002495.4(NDUFS4):c.177+8T>G	NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960056	NM_002495.4(NDUFS4):c.350+13T>C	NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2902847	NM_002495.4(NDUFS4):c.381C>T (p.Thr127=)	NDUFS4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2901983	NM_002495.4(NDUFS4):c.15A>G (p.Ser5=)	LOC129993885, NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2896765	NM_002495.4(NDUFS4):c.425-5C>T	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 2885076	NM_002495.4(NDUFS4):c.123A>G (p.Arg41=)	NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2879044	NM_002495.4(NDUFS4):c.98+9dup	LOC129993885, NDUFS4	Duplication (intron variant)	not provided	GLikely benign
Select item 2876591	NM_002495.4(NDUFS4):c.425-14T>G	NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876085	NM_002495.4(NDUFS4):c.98+17_98+18del	LOC129993885, NDUFS4	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2875151	NM_002495.4(NDUFS4):c.444A>G (p.Glu148=)	NDUFS4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2869064	NM_002495.4(NDUFS4):c.360C>T (p.Pro120=)	NDUFS4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2862084	NM_002495.4(NDUFS4):c.178-15dup	NDUFS4	Duplication (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 2857460	NM_002495.4(NDUFS4):c.351-13T>G	NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856576	NM_002495.4(NDUFS4):c.98+17A>G	LOC129993885, NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2855330	NM_002495.4(NDUFS4):c.20C>A (p.Ser7Ter)	LOC129993885, NDUFS4 (S7*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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 2848644	NM_002495.4(NDUFS4):c.99-7A>G	NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2839436	NM_002495.4(NDUFS4):c.350+18A>G	NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836340	NM_002495.4(NDUFS4):c.261_262delinsTT (p.Met87_Gln88delinsIleTer)	NDUFS4	Indel (nonsense +1 more)	not provided	GPathogenic
Select item 2834425	NM_002495.4(NDUFS4):c.98+22del	LOC129993885, NDUFS4	Deletion (intron variant)	not provided	GBenign
Select item 2833555	NM_002495.4(NDUFS4):c.424+14del	NDUFS4	Deletion (intron variant)	not provided	GLikely benign
Select item 2830317	NM_002495.4(NDUFS4):c.426A>G (p.Gly142=)	NDUFS4 (M118V)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
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 2829458	NM_002495.4(NDUFS4):c.63T>C (p.Ala21=)	LOC129993885, 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 2816207	NM_002495.4(NDUFS4):c.474G>A (p.Lys158=)	NDUFS4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2799040	NM_002495.4(NDUFS4):c.36G>A (p.Gln12=)	LOC129993885, NDUFS4	Single nucleotide variant (synonymous variant +1 more)	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 2796808	NM_002495.4(NDUFS4):c.98+8A>T	LOC129993885, 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 2790167	NM_002495.4(NDUFS4):c.315G>A (p.Glu105=)	NDUFS4	Single nucleotide variant (synonymous variant +1 more)	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 2785597	NM_002495.4(NDUFS4):c.510A>T (p.Thr170=)	NDUFS4	Single nucleotide variant (3 prime UTR variant +2 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 2784341	NM_002495.4(NDUFS4):c.78C>T (p.Ser26=)	LOC129993885, 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 2780848	NM_002495.4(NDUFS4):c.324A>G (p.Glu108=)	NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2759372	NM_002495.4(NDUFS4):c.156C>T (p.Leu52=)	NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2758562	NM_002495.4(NDUFS4):c.179dup (p.Asp60fs)	NDUFS4 (D60fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2756493	NM_002495.4(NDUFS4):c.90T>C (p.Val30=)	LOC129993885, NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2744985	NM_002495.4(NDUFS4):c.168T>C (p.Asp56=)	NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2736268	NM_002495.4(NDUFS4):c.528G>A (p.Ter176=)	NDUFS4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2731408	NM_002495.4(NDUFS4):c.402A>C (p.Ala134=)	NDUFS4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2711767	NM_002495.4(NDUFS4):c.90T>A (p.Val30=)	LOC129993885, NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2711416	NM_002495.4(NDUFS4):c.360del (p.Leu121fs)	NDUFS4 (L121fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2708848	NM_002495.4(NDUFS4):c.350+1G>C	NDUFS4	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 2700514	NM_002495.4(NDUFS4):c.98+19T>A	LOC129993885, NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2691338	NC_000005.9:g.(52954455_52978947)_(52979169_?)dup	NDUFS4	Duplication	not specified	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 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 2676997	NM_002495.4(NDUFS4):c.479dup (p.Tyr160Ter)	NDUFS4 (Y160*)	Duplication (3 prime UTR variant +2 more)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
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 2676994	NM_002495.4(NDUFS4):c.424G>T (p.Gly142Ter)	NDUFS4 (G142*)	Single nucleotide variant (nonsense +2 more)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
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 2676992	NM_002495.4(NDUFS4):c.424+2T>A	NDUFS4	Single nucleotide variant (splice donor variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
Select item 2676991	NM_002495.4(NDUFS4):c.26del (p.Val9fs)	LOC129993885, NDUFS4 (V9fs)	Deletion (frameshift variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GPathogenic/Likely pathogenic
Select item 2676990	NM_002495.4(NDUFS4):c.415G>T (p.Glu139Ter)	NDUFS4 (E139*)	Single nucleotide variant (nonsense +2 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 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 2571749	NM_002495.4(NDUFS4):c.47G>T (p.Arg16Leu)	LOC129993885, NDUFS4 (R16L)	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 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 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 2500769	NM_002495.4(NDUFS4):c.350+1G>T	NDUFS4	Single nucleotide variant (splice donor variant)	Leigh syndrome	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 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

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