NDUFA1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic
Select item 146764	GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	HMGN5, HNRNPH2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	LOC130068194, LOC130068195 +2632 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC126863191, LOC126863192 +2633 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC130068432, LOC130068433 +2633 more	Copy number loss	See cases	GPathogenic
Select item 144172	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	LOC130068031, LOC130068032 +2633 more	Copy number gain	See cases	GPathogenic
Select item 57087	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC110120594, LOC110120595 +2633 more	Copy number loss	See cases	GPathogenic
Select item 57086	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130067964, LOC130067965 +2633 more	Copy number gain	See cases	GPathogenic
Select item 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	CT45A7, CT45A8 +2632 more	Copy number gain	See cases	GPathogenic
Select item 146861	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	ABCB7, ABCD1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 146857	GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	FANCB, FGD1 +1932 more	Copy number loss	See cases	GPathogenic
Select item 144465	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	ABCB7, ABCD1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 144429	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	AP1S2, APEX2 +2632 more	Copy number gain	See cases	GPathogenic
Select item 144310	GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	TIMM8A, TIMP1 +2631 more	Copy number loss	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	LOC119407398, LOC119407399 +2632 more	Copy number loss	See cases	GPathogenic
Select item 57161	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	FAM223B, FAM226A +2628 more	Copy number loss	See cases	GPathogenic
Select item 57160	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	LOC126863207, LOC126863208 +2628 more	Copy number gain	See cases	GPathogenic
Select item 152900	GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	LOC130068458, LOC130068459 +2633 more	Copy number gain	See cases	GPathogenic
Select item 145995	GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	LOC113875011, LOC113875012 +2633 more	Copy number loss	See cases	GPathogenic
Select item 145162	GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	ABCB7, ABCD1 +2632 more	Copy number gain	See cases	GPathogenic
Select item 58553	GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	LOC130068362, LOC130068363 +2632 more	Copy number gain	See cases	GPathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	ABCB7, ABCD1 +2631 more	Copy number gain	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	LOC130068054, LOC130068055 +2631 more	Copy number loss	See cases	GPathogenic
Select item 58555	GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	LOC126863302, LOC126863303 +2631 more	Copy number gain	See cases	GPathogenic
Select item 147257	GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	LOC119407406, LOC119407407 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	ACOT9, ABCB7 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	LOC126863301, LOC126863302 +2632 more	Copy number gain	See cases	GPathogenic
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	LOC126863205, LOC126863206 +2632 more	Copy number gain	See cases	GPathogenic
Select item 152158	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	LOC107985687, LOC107988021 +2632 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152157	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	LOC130067947, LOC130067948 +2632 more	Copy number gain	See cases	GPathogenic
Select item 151130	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	CT45A3, CT45A5 +2632 more	Copy number gain	See cases	GPathogenic
Select item 150422	GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	CDKL5, CDR1 +2611 more	Copy number loss	See cases	GPathogenic
Select item 152899	GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	ABCB7, ABCD1 +2603 more	Copy number gain	See cases	GPathogenic
Select item 147627	GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	LOC126863296, LOC126863297 +2593 more	Copy number gain	See cases	GPathogenic
Select item 147683	GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	LOC130068368, LOC130068369 +2593 more	Copy number gain	See cases	GPathogenic
Select item 58586	GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	LOC130067891, LOC130067892 +2595 more	Copy number gain	See cases	GPathogenic
Select item 57225	GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	LOC130068100, LOC130068101 +2585 more	Copy number gain	See cases	GPathogenic
Select item 149705	GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	ABCB7, ACE2 +2046 more	Copy number loss	See cases	GPathogenic
Select item 146240	GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	ABCB7, ABCD1 +2102 more	Copy number loss	See cases	GPathogenic
Select item 145974	GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	ABCB7, ABCD1 +2098 more	Copy number loss	See cases	GPathogenic
Select item 155282	GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	ABCB7, ABCD1 +1590 more	Copy number loss	See cases	GPathogenic
Select item 57923	GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1	ABCB7, ABCD1 +1476 more	Copy number loss	See cases	GPathogenic
Select item 148479	GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3	LOC113875008, LOC113875009 +1467 more	Copy number gain	See cases	GPathogenic
Select item 150589	GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3	LOC130068588, LOC130068589 +1467 more	Copy number gain	See cases	GPathogenic
Select item 144543	GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3	LOC116309158, LOC116309159 +1466 more	Copy number gain	See cases	GPathogenic
Select item 57924	GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1	GPRASP2, GPRASP3 +1464 more	Copy number loss	See cases	GPathogenic
Select item 145624	GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1	LOC130068848, LOC130068849 +1254 more	Copy number loss	See cases	GPathogenic
Select item 155357	GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1	ABCB7, ABCD1 +1249 more	Copy number loss	See cases	GPathogenic
Select item 148019	GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1	DNAAF6, DNASE1L1 +1244 more	Copy number loss	See cases	GPathogenic
Select item 155065	GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1	ABCD1, ACSL4 +1229 more	Copy number loss	See cases	GPathogenic
Select item 148052	GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1	LOC130068886, LOC130068887 +1230 more	Copy number loss	See cases	GPathogenic
Select item 146131	GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1	TCP11X2, TENM1 +1225 more	Copy number loss	See cases	GPathogenic
Select item 154252	GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1	FAM3A, FAM50A +1206 more	Copy number loss	See cases	GPathogenic
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 146845	GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1	LOC113875015, LOC113875016 +1197 more	Copy number loss	See cases	GPathogenic
Select item 149834	GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1	CT45A10, CT45A2 +1193 more	Copy number loss	See cases	GPathogenic
Select item 58661	GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3	LOC126863293, LOC126863294 +478 more	Copy number gain	See cases	GPathogenic
Select item 153436	GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1	ABCD1, ACSL4 +1181 more	Copy number loss	See cases	GPathogenic
Select item 150562	GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1	LOC130068516, LOC130068517 +1180 more	Copy number loss	See cases	GPathogenic
Select item 144262	GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3	ABCD1, ACSL4 +1169 more	Copy number gain	See cases	GPathogenic
Select item 153756	GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1	ABCD1, ACSL4 +1159 more	Copy number loss	See cases	GPathogenic
Select item 150509	GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1	ABCD1, ACSL4 +1155 more	Copy number loss	See cases	GPathogenic
Select item 153730	GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1	LOC130068676, LOC130068677 +1152 more	Copy number loss	See cases	GPathogenic
Select item 145981	GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1	GABRQ, GDI1 +1150 more	Copy number loss	See cases	GPathogenic
Select item 147352	GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3	PLP1, PLS3 +1143 more	Copy number gain	See cases	GPathogenic
Select item 148958	GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3	LOC130068811, LOC130068812 +1141 more	Copy number gain	See cases	GPathogenic
Select item 57971	GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1	LOC130068857, LOC130068858 +1123 more	Copy number loss	See cases	GPathogenic
Select item 148341	GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1	LOC130068686, LOC130068687 +1075 more	Copy number loss	See cases	GPathogenic
Select item 148822	GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1	LOC130068697, LOC130068698 +1002 more	Copy number loss	See cases	GPathogenic
Select item 149544	GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1	LOC130068869, LOC130068870 +1001 more	Copy number loss	See cases	GPathogenic
Select item 154022	GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1	PLXNB3-AS1, PNCK +996 more	Copy number loss	See cases	GPathogenic
Select item 154510	GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1	ABCD1, ACTRT1 +909 more	Copy number loss	See cases	GPathogenic
Select item 146791	GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3	ATP2B3, ATP6AP1 +831 more	Copy number gain	See cases	GPathogenic
Select item 145613	GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1	LOC130068866, LOC130068867 +883 more	Copy number loss	See cases	GPathogenic
Select item 57454	GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1	ABCD1, ACTRT1 +869 more	Copy number loss	See cases	GPathogenic
Select item 149087	GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3	ACTRT1, ADGRG4 +449 more	Copy number gain	See cases	GPathogenic
Select item 153940	GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1	LOC130068664, LOC130068665 +833 more	Copy number loss	See cases	GPathogenic
Select item 153304	GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1	LOC130068670, LOC130068671 +820 more	Copy number loss	See cases	GPathogenic
Select item 1229614	NM_006978.3(RNF113A):c.-11A>G	LOC130068621, NDUFA1 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1239686	NC_000023.11:g.119871742C>G	LOC130068621, NDUFA1	Single nucleotide variant	not provided	GBenign
Select item 512111	NM_004541.4(NDUFA1):c.-44C>G	LOC130068621, NDUFA1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 378240	NM_004541.4(NDUFA1):c.-33A>C	LOC130068621, NDUFA1	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 193286	NM_004541.4(NDUFA1):c.-4A>G	LOC130068621, NDUFA1	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases +2 more	GBenign
Select item 3033518	NM_004541.4(NDUFA1):c.16C>T (p.Leu6Phe)	LOC130068621, NDUFA1 (L6F)	Single nucleotide variant (missense variant)	NDUFA1-related condition	GUncertain significance
Select item 11648	NM_004541.4(NDUFA1):c.22G>C (p.Gly8Arg)	LOC130068621, NDUFA1 (G8R)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 12	GPathogenic
Select item 2007196	NM_004541.4(NDUFA1):c.35T>C (p.Met12Thr)	LOC130068621, NDUFA1 (M12T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182710	NM_004541.4(NDUFA1):c.39C>T (p.Gly13=)	LOC130068621, NDUFA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1741788	NM_004541.4(NDUFA1):c.45C>T (p.Cys15=)	LOC130068621, NDUFA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1312864	NM_004541.4(NDUFA1):c.70_73del (p.Ala24fs)	LOC130068621, NDUFA1 (A24fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2506730	NM_004541.4(NDUFA1):c.77T>C (p.Ile26Thr)	LOC130068621, NDUFA1 (I26T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661308	NM_004541.4(NDUFA1):c.84G>A (p.Arg28=)	LOC130068621, NDUFA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 36974	NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg)	LOC130068621, NDUFA1 (G32R)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 12 +4 more	GBenign/Likely benign
Select item 2184789	NM_004541.4(NDUFA1):c.102+5G>A	LOC130068621, NDUFA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2078853	NM_004541.4(NDUFA1):c.102+7C>T	LOC130068621, NDUFA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988194	NM_004541.4(NDUFA1):c.102+13C>T	LOC130068621, NDUFA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 511289	NM_004541.4(NDUFA1):c.102+17C>T	LOC130068621, NDUFA1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1945956	NM_004541.4(NDUFA1):c.102+19G>A	LOC130068621, NDUFA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237407	NM_004541.4(NDUFA1):c.103-276A>G	NDUFA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211550	NM_004541.4(NDUFA1):c.103-244dup	NDUFA1	Duplication (intron variant)	not provided	GLikely benign
Select item 1179522	NM_004541.4(NDUFA1):c.103-235dup	NDUFA1	Duplication (intron variant)	not provided	GBenign

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