NDUFAF1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1221259	NC_000015.10:g.41387294G>A	NDUFAF1	Single nucleotide variant	not provided	GBenign
Select item 1228185	NC_000015.10:g.41387326dup	NDUFAF1	Duplication	not provided	GBenign
Select item 1238975	NC_000015.10:g.41387325_41387326del	NDUFAF1	Deletion	not provided	GBenign
Select item 1179686	NC_000015.10:g.41387326del	NDUFAF1	Deletion	not provided	GBenign
Select item 1937840	NM_016013.4(NDUFAF1):c.972G>A (p.Arg324=)	NDUFAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1494378	NM_016013.4(NDUFAF1):c.961C>T (p.Leu321Phe)	NDUFAF1 (L321F)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1518756	NM_016013.4(NDUFAF1):c.958G>A (p.Glu320Lys)	NDUFAF1 (E320K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2192460	NM_016013.4(NDUFAF1):c.949A>G (p.Asn317Asp)	NDUFAF1 (N317D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 129690	NM_016013.4(NDUFAF1):c.941C>G (p.Ala314Gly)	NDUFAF1 (A314G)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GBenign
Select item 711134	NM_016013.4(NDUFAF1):c.926A>C (p.His309Pro)	NDUFAF1 (H309P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1265556	NM_016013.4(NDUFAF1):c.925C>G (p.His309Asp)	NDUFAF1 (H309D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 214726	NM_016013.4(NDUFAF1):c.919C>A (p.Pro307Thr)	NDUFAF1 (P307T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 315875	NM_016013.4(NDUFAF1):c.909G>A (p.Val303=)	NDUFAF1	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GBenign
Select item 2895206	NM_016013.4(NDUFAF1):c.907G>A (p.Val303Met)	NDUFAF1 (V303M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2187430	NM_016013.4(NDUFAF1):c.906C>T (p.Gly302=)	NDUFAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 634501	NM_016013.4(NDUFAF1):c.901A>T (p.Ile301Phe)	NDUFAF1 (I301F)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency +1 more	GUncertain significance
Select item 1656065	NM_016013.4(NDUFAF1):c.900T>C (p.Phe300=)	NDUFAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2187887	NM_016013.4(NDUFAF1):c.894A>G (p.Ile298Met)	NDUFAF1 (I298M)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2473136	NM_016013.4(NDUFAF1):c.893T>C (p.Ile298Thr)	NDUFAF1 (I298T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233085	NM_016013.4(NDUFAF1):c.875G>T (p.Gly292Val)	NDUFAF1 (G292V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299034	NM_016013.4(NDUFAF1):c.871G>T (p.Asp291Tyr)	NDUFAF1 (D291Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2982782	NM_016013.4(NDUFAF1):c.870G>A (p.Val290=)	NDUFAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1975712	NM_016013.4(NDUFAF1):c.865A>G (p.Lys289Glu)	NDUFAF1 (K289E)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 214725	NM_016013.4(NDUFAF1):c.855C>T (p.Thr285=)	NDUFAF1	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1403234	NM_016013.4(NDUFAF1):c.836T>C (p.Ile279Thr)	NDUFAF1 (I279T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2974272	NM_016013.4(NDUFAF1):c.834+1G>T	NDUFAF1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2304673	NM_016013.4(NDUFAF1):c.803G>A (p.Arg268Gln)	NDUFAF1 (R268Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2175103	NM_016013.4(NDUFAF1):c.802C>T (p.Arg268Trp)	NDUFAF1 (R268W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2414116	NM_016013.4(NDUFAF1):c.791G>A (p.Arg264Gln)	NDUFAF1 (R264Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2721586	NM_016013.4(NDUFAF1):c.790C>T (p.Arg264Ter)	NDUFAF1 (R264*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1975756	NM_016013.4(NDUFAF1):c.790C>G (p.Arg264Gly)	NDUFAF1 (R264G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2616958	NM_016013.4(NDUFAF1):c.785C>T (p.Ser262Phe)	NDUFAF1 (S262F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1934575	NM_016013.4(NDUFAF1):c.768T>C (p.Phe256=)	NDUFAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 138452	NM_016013.4(NDUFAF1):c.760-19A>T	NDUFAF1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1213554	NM_016013.4(NDUFAF1):c.759+207T>C	NDUFAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231740	NM_016013.4(NDUFAF1):c.759+163G>A	NDUFAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 30623	NM_016013.4(NDUFAF1):c.758A>G (p.Lys253Arg)	NDUFAF1 (K253R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2976427	NM_016013.4(NDUFAF1):c.756C>T (p.Val252=)	NDUFAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1959922	NM_016013.4(NDUFAF1):c.739C>G (p.Pro247Ala)	NDUFAF1 (P247A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 30625	NM_016013.4(NDUFAF1):c.733G>A (p.Gly245Arg)	NDUFAF1 (G245R)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 11 +1 more	GUncertain significance
Select item 1702778	NM_016013.4(NDUFAF1):c.731G>A (p.Arg244His)	NDUFAF1 (R244H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2167671	NM_016013.4(NDUFAF1):c.730C>T (p.Arg244Cys)	NDUFAF1 (R244C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2080537	NM_016013.4(NDUFAF1):c.726C>T (p.Phe242=)	NDUFAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3299035	NM_016013.4(NDUFAF1):c.722T>C (p.Met241Thr)	NDUFAF1 (M241T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 886698	NM_016013.4(NDUFAF1):c.721A>G (p.Met241Val)	NDUFAF1 (M241V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 214736	NM_016013.4(NDUFAF1):c.712A>G (p.Ser238Gly)	NDUFAF1 (S238G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 211580	NM_016013.4(NDUFAF1):c.708G>A (p.Met236Ile)	NDUFAF1 (M236I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 887952	NM_016013.4(NDUFAF1):c.701A>G (p.Asn234Ser)	NDUFAF1 (N234S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1437594	NM_016013.4(NDUFAF1):c.698C>T (p.Thr233Met)	NDUFAF1 (T233M)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1302924	NM_016013.4(NDUFAF1):c.692A>G (p.Gln231Arg)	NDUFAF1 (Q231R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2645191	NM_016013.4(NDUFAF1):c.678C>T (p.Asp226=)	NDUFAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1492855	NM_016013.4(NDUFAF1):c.672G>T (p.Lys224Asn)	NDUFAF1 (K224N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3187388	NM_016013.4(NDUFAF1):c.658A>G (p.Met220Val)	NDUFAF1 (M220V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291339	NM_016013.4(NDUFAF1):c.656G>C (p.Trp219Ser)	NDUFAF1 (W219S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 214733	NM_016013.4(NDUFAF1):c.650G>A (p.Arg217Gln)	NDUFAF1 (R217Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 315876	NM_016013.4(NDUFAF1):c.643G>A (p.Asp215Asn)	NDUFAF1 (D215N)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 2328370	NM_016013.4(NDUFAF1):c.641G>C (p.Gly214Ala)	NDUFAF1 (G214A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1338884	NM_016013.4(NDUFAF1):c.638G>A (p.Arg213His)	NDUFAF1 (R213H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2215295	NM_016013.4(NDUFAF1):c.632G>A (p.Arg211His)	NDUFAF1 (R211H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 30624	NM_016013.4(NDUFAF1):c.631C>T (p.Arg211Cys)	NDUFAF1 (R211C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1984244	NM_016013.4(NDUFAF1):c.628C>G (p.Leu210Val)	NDUFAF1 (L210V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2434084	NM_016013.4(NDUFAF1):c.624_625del (p.Tyr209fs)	NDUFAF1 (Y209fs)	Deletion (frameshift variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 11	GUncertain significance
Select item 498775	NM_016013.4(NDUFAF1):c.622C>A (p.Leu208Met)	NDUFAF1 (L208M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 30622	NM_016013.4(NDUFAF1):c.619A>C (p.Thr207Pro)	NDUFAF1 (T207P)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 11	GPathogenic
Select item 2900934	NM_016013.4(NDUFAF1):c.601G>A (p.Asp201Asn)	NDUFAF1 (D201N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3299033	NM_016013.4(NDUFAF1):c.600C>T (p.Tyr200=)	NDUFAF1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3049036	NM_016013.4(NDUFAF1):c.586A>C (p.Arg196=)	NDUFAF1	Single nucleotide variant (synonymous variant +1 more)	NDUFAF1-related disorder	GLikely benign
Select item 752744	NM_016013.4(NDUFAF1):c.582T>C (p.Phe194=)	NDUFAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1296511	NM_016013.4(NDUFAF1):c.574-301A>T	NDUFAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 138455	NM_016013.4(NDUFAF1):c.558A>G (p.Ile186Met)	NDUFAF1 (I186M)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 214731	NM_016013.4(NDUFAF1):c.553A>G (p.Met185Val)	NDUFAF1 (M185V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1370785	NM_016013.4(NDUFAF1):c.549T>G (p.Cys183Trp)	NDUFAF1 (C183W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 391435	NM_016013.4(NDUFAF1):c.543G>A (p.Gly181=)	NDUFAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3299030	NM_016013.4(NDUFAF1):c.539G>C (p.Ser180Thr)	NDUFAF1 (S180T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 315877	NM_016013.4(NDUFAF1):c.538A>G (p.Ser180Gly)	NDUFAF1 (S180G)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 887953	NM_016013.4(NDUFAF1):c.536G>A (p.Arg179Gln)	NDUFAF1 (R179Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 419281	NM_016013.4(NDUFAF1):c.532del (p.Thr178fs)	NDUFAF1 (T178fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 138454	NM_016013.4(NDUFAF1):c.526G>A (p.Glu176Lys)	NDUFAF1 (E176K)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 2714842	NM_016013.4(NDUFAF1):c.522C>T (p.Asp174=)	NDUFAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1919117	NM_016013.4(NDUFAF1):c.522C>G (p.Asp174Glu)	NDUFAF1 (D174E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1029422	NM_016013.4(NDUFAF1):c.512C>T (p.Ala171Val)	NDUFAF1 (A171V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1213729	NM_016013.4(NDUFAF1):c.457A>G (p.Lys153Glu)	NDUFAF1 (K153E)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 11 +2 more	GUncertain significance
Select item 3299032	NM_016013.4(NDUFAF1):c.451T>G (p.Phe151Val)	NDUFAF1 (F151V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 884806	NM_016013.4(NDUFAF1):c.429G>A (p.Thr143=)	NDUFAF1	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 2182238	NM_016013.4(NDUFAF1):c.428C>T (p.Thr143Met)	NDUFAF1 (T143M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2191440	NM_016013.4(NDUFAF1):c.416C>T (p.Thr139Ile)	NDUFAF1 (T139I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2110234	NM_016013.4(NDUFAF1):c.408G>A (p.Trp136Ter)	NDUFAF1 (W136*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1949401	NM_016013.4(NDUFAF1):c.330_400del (p.Gly110_His111insTer)	NDUFAF1	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2232109	NM_016013.4(NDUFAF1):c.397T>G (p.Leu133Val)	NDUFAF1 (L133V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290941	NM_016013.4(NDUFAF1):c.385G>A (p.Gly129Arg)	NDUFAF1 (G129R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1977944	NM_016013.4(NDUFAF1):c.382C>T (p.Arg128Trp)	NDUFAF1 (R128W)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 214735	NM_016013.4(NDUFAF1):c.368T>C (p.Val123Ala)	NDUFAF1 (V123A)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 1936685	NM_016013.4(NDUFAF1):c.362C>G (p.Ala121Gly)	NDUFAF1 (A121G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2971626	NM_016013.4(NDUFAF1):c.339G>C (p.Leu113=)	NDUFAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2972769	NM_016013.4(NDUFAF1):c.324G>A (p.Pro108=)	NDUFAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3299031	NM_016013.4(NDUFAF1):c.323C>T (p.Pro108Leu)	NDUFAF1 (P108L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294370	NM_016013.4(NDUFAF1):c.323C>G (p.Pro108Arg)	NDUFAF1 (P108R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2050582	NM_016013.4(NDUFAF1):c.316A>C (p.Arg106=)	NDUFAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3004703	NM_016013.4(NDUFAF1):c.312T>C (p.His104=)	NDUFAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1704027	NM_016013.4(NDUFAF1):c.309T>G (p.Asp103Glu)	NDUFAF1 (D103E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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