NDUFS2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 293262	NM_004550.5(NDUFS2):c.-388G>T	NDUFS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 293261	NM_004550.5(NDUFS2):c.-388G>A	NDUFS2	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 293263	NM_004550.5(NDUFS2):c.-346G>A	NDUFS2	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 293264	NM_004550.5(NDUFS2):c.-298C>G	NDUFS2	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 1207148	NM_004550.5(NDUFS2):c.-239-201A>G	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 138488	NM_004550.5(NDUFS2):c.-223C>G	NDUFS2	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 293265	NM_004550.5(NDUFS2):c.-218G>A	NDUFS2	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 293266	NM_004550.5(NDUFS2):c.-159C>A	NDUFS2	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 293267	NM_004550.5(NDUFS2):c.-156G>A	NDUFS2	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 1187689	NM_001377299.1(NDUFS2):c.95+243G>C	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672559	NM_001377299.1(NDUFS2):c.95+255C>T	NDUFS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1975520	NM_001377299.1(NDUFS2):c.96-17T>G	NDUFS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 731292	NM_001377299.1(NDUFS2):c.96-8C>T	NDUFS2	Single nucleotide variant (intron variant)	NDUFS2-related disorder +1 more	GLikely benign
Select item 1691709	NM_001377299.1(NDUFS2):c.96-2A>G	NDUFS2	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 293271	NM_001377299.1(NDUFS2):c.98G>A (p.Gly33Asp)	NDUFS2 (G33D)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 1513273	NM_001377299.1(NDUFS2):c.103C>T (p.Arg35Trp)	NDUFS2 (R35W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1671173	NM_001377299.1(NDUFS2):c.114G>A (p.Gln38=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 734528	NM_001377299.1(NDUFS2):c.117A>G (p.Pro39=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2064327	NM_001377299.1(NDUFS2):c.122T>G (p.Val41Gly)	NDUFS2 (V41G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1451468	NM_001377299.1(NDUFS2):c.128G>A (p.Trp43Ter)	NDUFS2 (W43*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2170214	NM_001377299.1(NDUFS2):c.146G>A (p.Gly49Glu)	NDUFS2 (G49E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2770685	NM_001377299.1(NDUFS2):c.150T>A (p.Ala50=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 214799	NM_001377299.1(NDUFS2):c.158A>G (p.Tyr53Cys)	NDUFS2 (Y53C)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 293272	NM_001377299.1(NDUFS2):c.162A>G (p.Pro54=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 2167412	NM_001377299.1(NDUFS2):c.168A>C (p.Lys56Asn)	NDUFS2 (K56N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2548127	NM_001377299.1(NDUFS2):c.175G>T (p.Ala59Ser)	NDUFS2 (A59S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 214791	NM_001377299.1(NDUFS2):c.177C>T (p.Ala59=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	NDUFS2-related disorder +3 more	GBenign/Likely benign
Select item 2860951	NM_001377299.1(NDUFS2):c.186G>A (p.Lys62=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1480935	NM_001377299.1(NDUFS2):c.188C>T (p.Pro63Leu)	NDUFS2 (P63L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3051643	NM_001377299.1(NDUFS2):c.202+3G>A	NDUFS2	Single nucleotide variant (intron variant)	NDUFS2-related disorder	GLikely benign
Select item 1180403	NM_001377299.1(NDUFS2):c.203-230del	NDUFS2	Deletion (intron variant)	not provided	GBenign
Select item 1229436	NM_001377299.1(NDUFS2):c.203-60A>G	NDUFS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2128530	NM_001377299.1(NDUFS2):c.203-8C>A	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642928	NM_001377299.1(NDUFS2):c.203-8C>T	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 214792	NM_001377299.1(NDUFS2):c.212C>T (p.Pro71Leu)	NDUFS2 (P71L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2413148	NM_001377299.1(NDUFS2):c.245T>A (p.Leu82Gln)	NDUFS2 (L82Q)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6	GUncertain significance
Select item 1912335	NM_001377299.1(NDUFS2):c.267A>G (p.Pro89=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 522715	NM_001377299.1(NDUFS2):c.268G>A (p.Ala90Thr)	NDUFS2 (A90T)	Single nucleotide variant (missense variant +1 more)	Leber optic atrophy	GLikely pathogenic
Select item 1245564	NM_001377299.1(NDUFS2):c.273G>A (p.Ala91=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 735425	NM_001377299.1(NDUFS2):c.285G>A (p.Leu95=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2486660	NM_001377299.1(NDUFS2):c.287G>A (p.Arg96Gln)	NDUFS2 (R96Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1208141	NM_001377299.1(NDUFS2):c.287G>C (p.Arg96Pro)	NDUFS2 (R96P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2202875	NM_001377299.1(NDUFS2):c.329A>T (p.Asp110Val)	NDUFS2 (D110V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 293273	NM_001377299.1(NDUFS2):c.337A>G (p.Ile113Val)	NDUFS2 (I113V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 743418	NM_001377299.1(NDUFS2):c.339C>T (p.Ile113=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1391900	NM_001377299.1(NDUFS2):c.351C>G (p.His117Gln)	NDUFS2 (H117Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1643002	NM_001377299.1(NDUFS2):c.354A>G (p.Arg118=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1350500	NM_001377299.1(NDUFS2):c.376T>C (p.Tyr126His)	NDUFS2 (Y126H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1910056	NM_001377299.1(NDUFS2):c.393+5G>C	NDUFS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 214800	NM_001377299.1(NDUFS2):c.393+5G>A	NDUFS2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 682109	NM_001377299.1(NDUFS2):c.393+12G>A	NDUFS2	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 6 +1 more	GLikely benign
Select item 676273	NM_001377299.1(NDUFS2):c.393+132G>A	NDUFS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671138	NM_001377299.1(NDUFS2):c.394-299T>C	NDUFS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1176843	NM_001377299.1(NDUFS2):c.394-8C>T	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2309917	NM_001377299.1(NDUFS2):c.410A>G (p.Asp137Gly)	NDUFS2 (D137G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1422418	NM_001377299.1(NDUFS2):c.412C>T (p.Arg138Trp)	NDUFS2 (R138W)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +1 more	GUncertain significance
Select item 2202876	NM_001377299.1(NDUFS2):c.413G>A (p.Arg138Gln)	NDUFS2 (R138Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1030813	NM_001377299.1(NDUFS2):c.422A>G (p.Tyr141Cys)	NDUFS2 (Y141C)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +1 more	GUncertain significance
Select item 286051	NM_001377299.1(NDUFS2):c.424G>A (p.Val142Met)	NDUFS2 (V142M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1466759	NM_001377299.1(NDUFS2):c.430A>G (p.Met144Val)	NDUFS2 (M144V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1058462	NM_001377299.1(NDUFS2):c.435G>A (p.Met145Ile)	NDUFS2 (M145I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 293274	NM_001377299.1(NDUFS2):c.441C>T (p.Asn147=)	NDUFS2	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 3254825	NM_001377299.1(NDUFS2):c.442G>C (p.Glu148Gln)	NDUFS2 (E148Q)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6	GUncertain significance
Select item 872511	NM_001377299.1(NDUFS2):c.442G>A (p.Glu148Lys)	NDUFS2 (E148K)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 3053802	NM_001377299.1(NDUFS2):c.472T>C (p.Leu158=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	NDUFS2-related disorder	GLikely benign
Select item 1896745	NM_001377299.1(NDUFS2):c.492T>G (p.Pro164=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 632085	NM_001377299.1(NDUFS2):c.495_496del (p.Arg166fs)	NDUFS2 (R166fs)	Deletion (frameshift variant +1 more)	Mitochondrial complex I deficiency	GUncertain significance
Select item 2858837	NM_001377299.1(NDUFS2):c.514+12del	NDUFS2	Deletion (intron variant)	not provided	GBenign
Select item 389800	NM_001377299.1(NDUFS2):c.514+11C>G	NDUFS2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 138483	NM_001377299.1(NDUFS2):c.514+11C>T	NDUFS2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2029469	NM_001377299.1(NDUFS2):c.515-20T>C	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1662852	NM_001377299.1(NDUFS2):c.515-10G>A	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 293275	NM_001377299.1(NDUFS2):c.515-3C>A	NDUFS2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 757106	NM_001377299.1(NDUFS2):c.517C>T (p.Leu173=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2419208	NM_001377299.1(NDUFS2):c.536G>A (p.Arg179His)	NDUFS2 (R179H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 214786	NM_001377299.1(NDUFS2):c.540G>A (p.Leu180=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	NDUFS2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2121529	NM_001377299.1(NDUFS2):c.567A>G (p.Thr189=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2231819	NM_001377299.1(NDUFS2):c.595C>T (p.Pro199Ser)	NDUFS2 (P199S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2099596	NM_001377299.1(NDUFS2):c.595C>A (p.Pro199Thr)	NDUFS2 (P199T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1616576	NM_001377299.1(NDUFS2):c.600C>T (p.Phe200=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1521344	NM_001377299.1(NDUFS2):c.627+3A>C	NDUFS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 791224	NM_001377299.1(NDUFS2):c.627+3A>G	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2134809	NM_001377299.1(NDUFS2):c.627+4A>G	NDUFS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1032908	NM_001377299.1(NDUFS2):c.628-17del	NDUFS2	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 138484	NM_001377299.1(NDUFS2):c.628-12C>T	NDUFS2	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1634360	NM_001377299.1(NDUFS2):c.628-11G>A	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2110058	NM_001377299.1(NDUFS2):c.628-8C>T	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2148391	NM_001377299.1(NDUFS2):c.629T>C (p.Met210Thr)	NDUFS2 (M210T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2113916	NM_001377299.1(NDUFS2):c.646C>A (p.Arg216=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1324786	NM_001377299.1(NDUFS2):c.646C>T (p.Arg216Ter)	NDUFS2 (R216*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2051920	NM_001377299.1(NDUFS2):c.660C>T (p.Ala220=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	NDUFS2-related disorder +1 more	GLikely benign
Select item 973096	NM_001377299.1(NDUFS2):c.662G>A (p.Arg221Gln)	NDUFS2 (R221Q)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6	GUncertain significance
Select item 546613	NM_001377299.1(NDUFS2):c.665T>C (p.Met222Thr)	NDUFS2 (M222T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2105492	NM_001377299.1(NDUFS2):c.672T>C (p.Ala224=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2302327	NM_001377299.1(NDUFS2):c.682C>T (p.Arg228Trp)	NDUFS2 (R228W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 6709	NM_001377299.1(NDUFS2):c.683G>A (p.Arg228Gln)	NDUFS2 (R228Q)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 6710	NM_001377299.1(NDUFS2):c.686C>A (p.Pro229Gln)	NDUFS2 (P229Q)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6	GPathogenic
Select item 507255	NM_001377299.1(NDUFS2):c.702+4A>C	NDUFS2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 293276	NM_001377299.1(NDUFS2):c.702+14_702+17dup	NDUFS2	Duplication (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1908880	NM_001377299.1(NDUFS2):c.702+20C>G	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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