NDUFA11[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 1246102	NM_001193375.3(NDUFA11):c.*244G>A	NDUFA11	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1280587	NM_001193375.3(NDUFA11):c.*185G>A	NDUFA11	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1240786	NM_001193375.3(NDUFA11):c.*158G>A	NDUFA11	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1271140	NM_001193375.3(NDUFA11):c.*131A>G	NDUFA11	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1318064	NM_001193375.3(NDUFA11):c.*105C>G	NDUFA11	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 380137	NM_001193375.3(NDUFA11):c.672G>A (p.Ser224=)	NDUFA11	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1182880	NM_001193375.3(NDUFA11):c.661A>G (p.Thr221Ala)	NDUFA11 (T221A)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 14 +1 more	GBenign
Select item 214689	NM_001193375.3(NDUFA11):c.614C>G (p.Ala205Gly)	NDUFA11 (A205G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3065307	NM_001193375.3(NDUFA11):c.590_600del (p.His197fs)	NDUFA11 (H197fs)	Deletion (frameshift variant)	Mitochondrial complex 1 deficiency, nuclear type 14	GUncertain significance
Select item 2582365	NM_001193375.3(NDUFA11):c.559C>T (p.Arg187Trp)	NDUFA11 (R187W)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 14	GUncertain significance
Select item 1241448	NM_001193375.3(NDUFA11):c.557C>T (p.Ala186Val)	NDUFA11 (A186V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2261182	NM_001193375.3(NDUFA11):c.548A>G (p.Glu183Gly)	NDUFA11 (E183G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1317611	NM_001193375.3(NDUFA11):c.517T>A (p.Cys173Ser)	NDUFA11 (C173S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2392107	NM_001193375.3(NDUFA11):c.512G>A (p.Gly171Glu)	NDUFA11 (G171E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067599	NM_001193375.3(NDUFA11):c.510G>A (p.Arg170=)	NDUFA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1699009	NM_001193375.3(NDUFA11):c.494C>T (p.Ala165Val)	NDUFA11 (A165V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2441885	NM_001193375.3(NDUFA11):c.470_471del (p.Ser157fs)	NDUFA11 (S157fs)	Microsatellite (frameshift variant)	Mitochondrial complex 1 deficiency, nuclear type 14	GUncertain significance
Select item 1299258	NM_001193375.3(NDUFA11):c.460G>T (p.Glu154Ter)	NDUFA11 (E154*)	Single nucleotide variant (nonsense)	NDUFA11-related disorder	GLikely benign
Select item 214688	NM_001193375.3(NDUFA11):c.394G>C (p.Ala132Pro)	NDUFA11 (A132P)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 138442	NM_001193375.3(NDUFA11):c.390G>A (p.Gln130=)	NDUFA11	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 3054628	NM_001193375.3(NDUFA11):c.378C>T (p.Thr126=)	NDUFA11	Single nucleotide variant (synonymous variant)	NDUFA11-related disorder	GLikely benign
Select item 3054936	NM_001193375.3(NDUFA11):c.362C>T (p.Ser121Leu)	NDUFA11 (S121L)	Single nucleotide variant (missense variant)	NDUFA11-related disorder	GUncertain significance
Select item 1318254	NM_001193375.3(NDUFA11):c.314-216C>T	NDUFA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1175448	NM_001193375.3(NDUFA11):c.314-324T>A	NDUFA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228269	NM_001193375.3(NDUFA11):c.314-1283C>T	NDUFA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291586	NM_001193375.3(NDUFA11):c.314-1344C>G	NDUFA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 330233	NM_001193375.3(NDUFA11):c.314-1391GT[4]	NDUFA11	Microsatellite (intron variant)	Mitochondrial complex I deficiency	GUncertain significance
Select item 894131	NM_175614.5(NDUFA11):c.*63G>A	NDUFA11	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 330234	NM_175614.5(NDUFA11):c.*59C>G	NDUFA11	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 330235	NM_175614.5(NDUFA11):c.*55G>C	NDUFA11	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 1462381	NM_175614.5(NDUFA11):c.409G>A (p.Ala137Thr)	NDUFA11 (A137T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1430834	NM_175614.5(NDUFA11):c.385C>T (p.Arg129Trp)	NDUFA11 (R129W)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1960190	NM_175614.5(NDUFA11):c.384C>T (p.Gly128=)	NDUFA11	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2420697	NM_175614.5(NDUFA11):c.374T>C (p.Val125Ala)	NDUFA11 (V125A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2981053	NM_175614.5(NDUFA11):c.363G>A (p.Ala121=)	NDUFA11	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1029292	NM_175614.5(NDUFA11):c.362C>T (p.Ala121Val)	NDUFA11 (A121V)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 14	GUncertain significance
Select item 1949260	NM_175614.5(NDUFA11):c.347T>C (p.Val116Ala)	NDUFA11 (V116A)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 749277	NM_175614.5(NDUFA11):c.345C>T (p.Cys115=)	NDUFA11	Single nucleotide variant (synonymous variant +2 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1444611	NM_175614.5(NDUFA11):c.334G>A (p.Ala112Thr)	NDUFA11 (A112T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 764171	NM_175614.5(NDUFA11):c.324C>T (p.Tyr108=)	NDUFA11	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1334653	NM_175614.5(NDUFA11):c.323A>T (p.Tyr108Phe)	NDUFA11 (Y108F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 214694	NM_175614.5(NDUFA11):c.314-2A>G	NDUFA11	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 1623048	NM_175614.5(NDUFA11):c.314-6C>T	NDUFA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228757	NM_175614.5(NDUFA11):c.314-330G>A	NDUFA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 390550	NM_175614.5(NDUFA11):c.313+10C>A	NDUFA11	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3004398	NM_175614.5(NDUFA11):c.313+9C>T	NDUFA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1339569	NM_175614.5(NDUFA11):c.313+6T>C	NDUFA11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1318342	NM_175614.5(NDUFA11):c.313+3G>A	NDUFA11	Single nucleotide variant (intron variant)	NDUFA11-related disorder +1 more	GLikely benign
Select item 372670	NM_175614.5(NDUFA11):c.313+1G>A	NDUFA11	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1489911	NM_175614.5(NDUFA11):c.311G>A (p.Arg104His)	NDUFA11 (R104H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 214692	NM_175614.5(NDUFA11):c.311G>T (p.Arg104Leu)	NDUFA11 (R104L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2170252	NM_175614.5(NDUFA11):c.310C>T (p.Arg104Cys)	NDUFA11 (R104C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1923994	NM_175614.5(NDUFA11):c.299C>T (p.Thr100Ile)	NDUFA11 (T100I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1402760	NM_175614.5(NDUFA11):c.292G>T (p.Gly98Cys)	NDUFA11 (G98C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1924441	NM_175614.5(NDUFA11):c.289G>A (p.Gly97Arg)	NDUFA11 (G97R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 894521	NM_175614.5(NDUFA11):c.288C>T (p.Ala96=)	NDUFA11	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 2239017	NM_175614.5(NDUFA11):c.286G>A (p.Ala96Thr)	NDUFA11 (A96T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2013815	NM_175614.5(NDUFA11):c.285C>A (p.Cys95Ter)	NDUFA11 (C95*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1565337	NM_175614.5(NDUFA11):c.276C>T (p.Leu92=)	NDUFA11	Single nucleotide variant (synonymous variant +1 more)	NDUFA11-related disorder +1 more	GLikely benign
Select item 1479924	NM_175614.5(NDUFA11):c.256G>A (p.Asp86Asn)	NDUFA11 (D86N)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1910528	NM_175614.5(NDUFA11):c.255C>A (p.Asp85Glu)	NDUFA11 (D85E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2232906	NM_175614.5(NDUFA11):c.249G>C (p.Lys83Asn)	NDUFA11 (K83N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 214691	NM_175614.5(NDUFA11):c.245A>G (p.Glu82Gly)	NDUFA11 (E82G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2168931	NM_175614.5(NDUFA11):c.244G>A (p.Glu82Lys)	NDUFA11 (E82K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2416872	NM_175614.5(NDUFA11):c.242G>A (p.Arg81His)	NDUFA11 (R81H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2210470	NM_175614.5(NDUFA11):c.239T>C (p.Val80Ala)	NDUFA11 (V80A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 894522	NM_175614.5(NDUFA11):c.234C>T (p.Ala78=)	NDUFA11	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 330236	NM_175614.5(NDUFA11):c.233C>T (p.Ala78Val)	NDUFA11 (A78V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 1929472	NM_175614.5(NDUFA11):c.232G>A (p.Ala78Thr)	NDUFA11 (A78T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3186985	NM_175614.5(NDUFA11):c.230G>A (p.Ser77Asn)	NDUFA11 (S77N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1029291	NM_175614.5(NDUFA11):c.205G>A (p.Val69Met)	NDUFA11 (V69M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1641538	NM_175614.5(NDUFA11):c.204C>T (p.Ala68=)	NDUFA11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3041025	NM_175614.5(NDUFA11):c.191-5C>T	NDUFA11	Single nucleotide variant (intron variant)	NDUFA11-related disorder	GLikely benign
Select item 507099	NM_175614.5(NDUFA11):c.191-12T>C	NDUFA11	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2441868	NM_175614.5(NDUFA11):c.191-31G>A	NDUFA11	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 14	GUncertain significance
Select item 1318121	NM_175614.5(NDUFA11):c.191-80T>C	NDUFA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676293	NM_175614.5(NDUFA11):c.190+150G>A	NDUFA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 740031	NM_175614.5(NDUFA11):c.190+9G>A	NDUFA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1969761	NM_175614.5(NDUFA11):c.190+8C>T	NDUFA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3046039	NM_175614.5(NDUFA11):c.147C>T (p.Phe49=)	NDUFA11	Single nucleotide variant (synonymous variant +1 more)	NDUFA11-related disorder	GLikely benign
Select item 3186983	NM_175614.5(NDUFA11):c.142A>G (p.Thr48Ala)	NDUFA11 (T48A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 214690	NM_175614.5(NDUFA11):c.138G>A (p.Pro46=)	NDUFA11	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1524541	NM_175614.5(NDUFA11):c.136C>G (p.Pro46Ala)	NDUFA11 (P46A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1047353	NM_175614.5(NDUFA11):c.116A>G (p.Tyr39Cys)	NDUFA11 (Y39C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2147714	NM_175614.5(NDUFA11):c.106G>A (p.Ala36Thr)	NDUFA11 (A36T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2130333	NM_175614.5(NDUFA11):c.105C>G (p.Thr35=)	NDUFA11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 894523	NM_175614.5(NDUFA11):c.104C>G (p.Thr35Ser)	NDUFA11 (T35S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 379863	NM_175614.5(NDUFA11):c.98-4G>A	NDUFA11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 382045	NM_175614.5(NDUFA11):c.98-5C>T	NDUFA11	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 388154	NM_175614.5(NDUFA11):c.98-14C>T	NDUFA11	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2006539	NM_175614.5(NDUFA11):c.98-17C>T	NDUFA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1646010	NM_175614.5(NDUFA11):c.98-17C>G	NDUFA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676343	NM_175614.5(NDUFA11):c.98-109A>G	NDUFA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676292	NM_175614.5(NDUFA11):c.97+144G>C	LOC112552175, NDUFA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1641687	NM_175614.5(NDUFA11):c.97+16G>T	LOC112552175, NDUFA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1960439	NM_175614.5(NDUFA11):c.97+12C>T	LOC112552175, NDUFA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 449316	NM_175614.5(NDUFA11):c.97+5G>A	LOC112552175, NDUFA11	Single nucleotide variant (intron variant)	not provided	GPathogenic

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