NDUFAF2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 144590	GRCh38/hg38 5q11.2-12.1(chr5:56947850-61725401)x3	ACTBL2, DEPDC1B +105 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 144267	GRCh38/hg38 5q12.1-12.3(chr5:60499077-63927783)x1	DEPDC1B, DIMT1 +49 more	Copy number loss	See cases	GPathogenic
Select item 647952	NC_000005.10:g.(?_60874605)_(61073224_?)del	ERCC8, ERCC8-AS1 +2 more	Deletion	not provided	GPathogenic
Select item 148815	GRCh38/hg38 5q12.1(chr5:60884948-61132933)x0	ERCC8, ERCC8-AS1 +2 more	Copy number loss	See cases	GPathogenic
Select item 662832	NC_000005.10:g.(?_60903570)_(60945392_?)del	NDUFAF2, ERCC8 +1 more	Deletion	not provided	GPathogenic
Select item 1716	NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter)	ERCC8, NDUFAF2 (E13*)	Single nucleotide variant (nonsense +1 more)	Cockayne syndrome type 1 +3 more	GPathogenic/Likely pathogenic
Select item 369503	NM_000082.3(ERCC8):c.-133C>G	ERCC8, NDUFAF2	Single nucleotide variant	Cockayne syndrome +1 more	GLikely benign
Select item 354026	NM_174889.4(NDUFAF2):c.-110A>C	NDUFAF2	Single nucleotide variant	Leigh syndrome +1 more	GUncertain significance
Select item 354027	NM_174889.4(NDUFAF2):c.-97A>G	ERCC8, NDUFAF2	Single nucleotide variant	Cockayne syndrome +3 more	GBenign
Select item 354028	NM_174889.4(NDUFAF2):c.-91C>T	ERCC8, NDUFAF2	Single nucleotide variant	Leigh syndrome +3 more	GBenign/Likely benign
Select item 354029	NM_174889.4(NDUFAF2):c.-66G>C	NDUFAF2	Single nucleotide variant	Leigh syndrome +1 more	GUncertain significance
Select item 354030	NM_174889.4(NDUFAF2):c.-63G>T	NDUFAF2	Single nucleotide variant	Leigh syndrome +1 more	GUncertain significance
Select item 380185	NM_174889.5(NDUFAF2):c.-33G>A	NDUFAF2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 354031	NM_174889.5(NDUFAF2):c.-23GC[3]	NDUFAF2	Microsatellite (5 prime UTR variant)	Mitochondrial complex I deficiency +1 more	GUncertain significance
Select item 496596	NM_174889.5(NDUFAF2):c.1A>T (p.Met1Leu)	NDUFAF2 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2903806	NM_174889.5(NDUFAF2):c.6T>C (p.Gly2=)	NDUFAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2429317	NM_174889.5(NDUFAF2):c.9_10del (p.Trp3fs)	NDUFAF2 (W3fs)	Deletion (frameshift variant)	Leigh syndrome	GLikely pathogenic
Select item 496598	NM_174889.5(NDUFAF2):c.9G>A (p.Trp3Ter)	NDUFAF2 (W3*)	Single nucleotide variant (nonsense)	Mitochondrial complex 1 deficiency, nuclear type 10	GPathogenic
Select item 558212	NM_174889.5(NDUFAF2):c.13C>T (p.Gln5Ter)	ERCC8, NDUFAF2 (Q5*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 1	GUncertain significance
Select item 354032	NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu)	ERCC8, NDUFAF2 (D6E)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency +2 more	GUncertain significance
Select item 2955550	NM_174889.5(NDUFAF2):c.24C>T (p.Phe8=)	NDUFAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776242	NM_174889.5(NDUFAF2):c.30C>G (p.Ala10=)	NDUFAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908167	NM_174889.5(NDUFAF2):c.31T>C (p.Leu11=)	NDUFAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890272	NM_174889.5(NDUFAF2):c.36G>A (p.Trp12Ter)	NDUFAF2 (W12*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1472784	NM_174889.5(NDUFAF2):c.41C>T (p.Ser14Leu)	NDUFAF2 (S14L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985237	NM_174889.5(NDUFAF2):c.42G>A (p.Ser14=)	NDUFAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689551	NM_174889.5(NDUFAF2):c.50G>A (p.Arg17Lys)	NDUFAF2 (R17K)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 10	GUncertain significance
Select item 2201912	NM_174889.5(NDUFAF2):c.54A>C (p.Glu18Asp)	NDUFAF2 (E18D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129691	NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=)	ERCC8, NDUFAF2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 2224821	NM_174889.5(NDUFAF2):c.62A>G (p.Glu21Gly)	NDUFAF2 (E21G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2704670	NM_174889.5(NDUFAF2):c.69G>A (p.Val23=)	NDUFAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009621	NM_174889.5(NDUFAF2):c.75G>A (p.Thr25=)	NDUFAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2158945	NM_174889.5(NDUFAF2):c.75G>C (p.Thr25=)	NDUFAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 488707	NM_174889.5(NDUFAF2):c.79C>T (p.Gln27Ter)	NDUFAF2 (Q27*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 214739	NM_174889.5(NDUFAF2):c.80A>T (p.Gln27Leu)	NDUFAF2 (Q27L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1933019	NM_174889.5(NDUFAF2):c.93A>G (p.Lys31=)	NDUFAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2199961	NM_174889.5(NDUFAF2):c.94T>C (p.Tyr32His)	NDUFAF2 (Y32H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2485749	NM_174889.5(NDUFAF2):c.95A>G (p.Tyr32Cys)	NDUFAF2 (Y32C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 354033	NM_174889.5(NDUFAF2):c.98A>G (p.Tyr33Cys)	NDUFAF2 (Y33C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2959848	NM_174889.5(NDUFAF2):c.99C>T (p.Tyr33=)	NDUFAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 906819	NM_174889.5(NDUFAF2):c.100T>C (p.Tyr34His)	NDUFAF2 (Y34H)	Single nucleotide variant (missense variant)	Leigh syndrome +2 more	GUncertain significance
Select item 2964773	NM_174889.5(NDUFAF2):c.102C>T (p.Tyr34=)	NDUFAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1595	NM_174889.5(NDUFAF2):c.103del (p.Ile35fs)	NDUFAF2 (I35fs)	Deletion (frameshift variant)	Mitochondrial complex 1 deficiency, nuclear type 10	GPathogenic
Select item 2887500	NM_174889.5(NDUFAF2):c.105C>T (p.Ile35=)	NDUFAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 557964	NM_174889.5(NDUFAF2):c.109C>T (p.Gln37Ter)	ERCC8, NDUFAF2 (Q37*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 1	GUncertain significance
Select item 2772009	NM_174889.5(NDUFAF2):c.111G>A (p.Gln37=)	NDUFAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 419231	NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter)	ERCC8, NDUFAF2 (Y38*)	Single nucleotide variant (nonsense)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2885898	NM_174889.5(NDUFAF2):c.119dup (p.Asn40fs)	NDUFAF2 (N40fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2161622	NM_174889.5(NDUFAF2):c.120C>T (p.Asn40=)	NDUFAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1486350	NM_174889.5(NDUFAF2):c.123G>C (p.Trp41Cys)	NDUFAF2 (W41C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900406	NM_174889.5(NDUFAF2):c.124A>G (p.Arg42Gly)	NDUFAF2 (R42G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966999	NM_174889.5(NDUFAF2):c.127+18_127+32dup	NDUFAF2	Duplication (intron variant)	not provided	GLikely benign
Select item 2419944	NM_174889.5(NDUFAF2):c.127+11G>A	NDUFAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 507811	NM_174889.5(NDUFAF2):c.127+11G>T	NDUFAF2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2768665	NM_174889.5(NDUFAF2):c.127+16G>A	NDUFAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674098	NM_174889.5(NDUFAF2):c.127+59G>A	NDUFAF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213289	NM_174889.5(NDUFAF2):c.127+241C>T	NDUFAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235807	NM_174889.5(NDUFAF2):c.128-171T>G	NDUFAF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293957	NM_174889.5(NDUFAF2):c.128-70C>T	NDUFAF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2824896	NM_174889.5(NDUFAF2):c.128-19A>C	NDUFAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867368	NM_174889.5(NDUFAF2):c.128-16G>A	NDUFAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793552	NM_174889.5(NDUFAF2):c.128-14C>T	NDUFAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 354034	NM_174889.5(NDUFAF2):c.128-14C>G	NDUFAF2	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 2979731	NM_174889.5(NDUFAF2):c.128-11_128-10del	NDUFAF2	Deletion (intron variant)	not provided	GLikely benign
Select item 2002945	NM_174889.5(NDUFAF2):c.128-11T>C	NDUFAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2731416	NM_174889.5(NDUFAF2):c.128-4_128-2del	NDUFAF2	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 984515	NM_174889.5(NDUFAF2):c.130_131del (p.Gln44fs)	NDUFAF2 (Q44fs)	Deletion (frameshift variant)	Leigh syndrome +1 more	GPathogenic
Select item 214740	NM_174889.5(NDUFAF2):c.131A>C (p.Gln44Pro)	NDUFAF2 (Q44P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 3004145	NM_174889.5(NDUFAF2):c.135T>C (p.Thr45=)	NDUFAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 907813	NM_174889.5(NDUFAF2):c.136A>G (p.Ile46Val)	NDUFAF2 (I46V)	Single nucleotide variant (missense variant)	Leigh syndrome +1 more	GUncertain significance
Select item 1594	NM_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter)	NDUFAF2 (R47*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 214741	NM_174889.5(NDUFAF2):c.140G>A (p.Arg47Gln)	NDUFAF2 (R47Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214744	NM_174889.5(NDUFAF2):c.167A>G (p.Asn56Ser)	NDUFAF2 (N56S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2876999	NM_174889.5(NDUFAF2):c.168T>C (p.Asn56=)	NDUFAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2755333	NM_174889.5(NDUFAF2):c.174dup (p.Glu59fs)	NDUFAF2 (E59fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2777294	NM_174889.5(NDUFAF2):c.171A>G (p.Lys57=)	NDUFAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984114	NM_174889.5(NDUFAF2):c.183C>T (p.Asp61=)	NDUFAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1323336	NM_174889.5(NDUFAF2):c.184del (p.Tyr62fs)	NDUFAF2 (Y62fs)	Deletion (frameshift variant)	Mitochondrial complex 1 deficiency, nuclear type 10	GPathogenic
Select item 3299037	NM_174889.5(NDUFAF2):c.185A>G (p.Tyr62Cys)	NDUFAF2 (Y62C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3015472	NM_174889.5(NDUFAF2):c.192A>G (p.Ala64=)	NDUFAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975537	NM_174889.5(NDUFAF2):c.192del (p.Asp66fs)	NDUFAF2 (D66fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2759897	NM_174889.5(NDUFAF2):c.192_193del (p.Asp66fs)	NDUFAF2 (D66fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 732736	NM_174889.5(NDUFAF2):c.192A>C (p.Ala64=)	NDUFAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 354035	NM_174889.5(NDUFAF2):c.196G>C (p.Asp66His)	NDUFAF2 (D66H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2823465	NM_174889.5(NDUFAF2):c.217+20A>G	NDUFAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671559	NM_174889.5(NDUFAF2):c.217+42A>G	NDUFAF2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 674099	NM_174889.5(NDUFAF2):c.217+114del	NDUFAF2	Deletion (intron variant)	not provided	GBenign
Select item 1291436	NM_174889.5(NDUFAF2):c.218-113T>A	NDUFAF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186736	NM_174889.5(NDUFAF2):c.218-47G>A	NDUFAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 388250	NM_174889.5(NDUFAF2):c.218-20A>C	NDUFAF2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 138456	NM_174889.5(NDUFAF2):c.218-17A>T	NDUFAF2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2799952	NM_174889.5(NDUFAF2):c.218-14A>G	NDUFAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852299	NM_174889.5(NDUFAF2):c.218-10T>C	NDUFAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2745713	NM_174889.5(NDUFAF2):c.218-9T>A	NDUFAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826543	NM_174889.5(NDUFAF2):c.218-7T>C	NDUFAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 496555	NM_174889.5(NDUFAF2):c.221G>A (p.Trp74Ter)	NDUFAF2 (W74*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic

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