Cox10 Variant Search Result - Rat Genome Database

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328 records found for search term Cox10

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11652877	CV337104	single nucleotide variant	NM_001303.4(COX10):c.-90G>T	Leigh syndrome [RCV000407367]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000307762]	uncertain significance	17	14069516	14069516	Human	2	name
11614446	CV337105	single nucleotide variant	NM_001303.4(COX10):c.-63C>T	Leigh syndrome [RCV000277116]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000362420]\|not provided [RCV004705346]	benign\|likely benign\|uncertain significance	17	14069543	14069543	Human	2	name
11620065	CV337109	single nucleotide variant	NM_001303.4(COX10):c.-40G>A	Leigh syndrome [RCV000332179]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000368067]	uncertain significance	17	14069566	14069566	Human	2	name
11614030	CV337111	single nucleotide variant	NM_001303.4(COX10):c.-29C>A	Leigh syndrome [RCV000273590]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000319115]	uncertain significance	17	14069577	14069577	Human	2	name
11614483	CV343338	single nucleotide variant	NM_001303.4(COX10):c.*13G>A	Leigh syndrome [RCV000277182]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000381042]	uncertain significance	17	14207226	14207226	Human	2	name
11627250	CV344908	single nucleotide variant	NM_001303.4(COX10):c.-24G>A	Leigh syndrome [RCV000279297]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000373740]\|not provided [RCV000827262]	likely benign\|uncertain significance	17	14069582	14069582	Human	2	name
12840538	CV374848	single nucleotide variant	NM_001303.4(COX10):c.-35A>G	not specified [RCV000430910]	likely benign	17	14069571	14069571	Human		name
28907539	CV876782	single nucleotide variant	NM_001303.4(COX10):c.-89G>C	Leigh syndrome [RCV001127653]\|Mitochondrial complex 4 deficiency, nuclear type 3 [RCV002491394]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001127652]\|not provided [RCV004694799]	uncertain significance	17	14069517	14069517	Human	4	name
28898372	CV876783	single nucleotide variant	NM_001303.4(COX10):c.-89G>T	Leigh syndrome [RCV001123557]\|Mitochondrial complex 4 deficiency, nuclear type 3 [RCV002482235]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001123556]	uncertain significance	17	14069517	14069517	Human	4	name
150498499	CV1208931	duplication	NM_001303.4(COX10):c.*152dup	not provided [RCV001594148]	likely benign	17	14207351	14207352	Human		name
151351333	CV1323841	deletion	NM_001303.4(COX10):c.*152del	not provided [RCV001810387]	benign	17	14207352	14207352	Human		name
155971651	CV2062512	single nucleotide variant	NM_001303.4(COX10):c.44-2A>G	not provided [RCV002842107]	uncertain significance	17	14074321	14074321	Human		name
11647804	CV327269	single nucleotide variant	NM_001303.3(COX10):c.-170C>G	Leigh syndrome [RCV000278677]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000396008]	uncertain significance	17	14069436	14069436	Human	2	name
11617080	CV327280	single nucleotide variant	NM_001303.3(COX10):c.-109G>A	Leigh syndrome [RCV000367476]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000301058]\|not provided [RCV000830944]	benign\|likely benign	17	14069497	14069497	Human	2	name
11620245	CV327302	single nucleotide variant	NM_001303.4(COX10):c.*297G>A	Leigh syndrome [RCV000334328]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000396612]\|not provided [RCV001597088]	benign\|likely benign	17	14207510	14207510	Human	2	name
11660237	CV327303	single nucleotide variant	NM_001303.4(COX10):c.*408G>A	Leigh syndrome [RCV000365321]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000398965]	uncertain significance	17	14207621	14207621	Human	2	name
11615367	CV337115	single nucleotide variant	NM_001303.4(COX10):c.*322T>C	Leigh syndrome [RCV000285265]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000341057]\|not provided [RCV004709561]	benign	17	14207535	14207535	Human	2	name
11615159	CV337118	single nucleotide variant	NM_001303.4(COX10):c.*646C>A	Leigh syndrome [RCV000379280]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000282929]\|not provided [RCV001707652]	benign	17	14207859	14207859	Human	2	name
11621316	CV337121	single nucleotide variant	NM_001303.4(COX10):c.*646C>G	Leigh syndrome [RCV000347246]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000395029]\|not provided [RCV001778908]	likely benign\|uncertain significance	17	14207859	14207859	Human	2	name
11649680	CV337123	single nucleotide variant	NM_001303.4(COX10):c.*739A>G	Leigh syndrome [RCV000288864]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000343596]	uncertain significance	17	14207952	14207952	Human	2	name
11620372	CV343328	single nucleotide variant	NM_001303.3(COX10):c.-112G>A	Leigh syndrome [RCV000336039]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000390210]\|not provided [RCV001672530]	benign	17	14069494	14069494	Human	2	name
11618082	CV343354	single nucleotide variant	NM_001303.4(COX10):c.*371A>G	Leigh syndrome [RCV000389973]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000310611]\|not provided [RCV004709562]	benign	17	14207584	14207584	Human	2	name
11617742	CV343357	single nucleotide variant	NM_001303.4(COX10):c.*438G>C	Leigh syndrome [RCV000307272]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000371382]\|not provided [RCV001778907]	benign\|likely benign	17	14207651	14207651	Human	2	name
11618380	CV343360	single nucleotide variant	NM_001303.4(COX10):c.*757T>C	Leigh syndrome [RCV000313440]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000390456]\|not provided [RCV001709595]	benign	17	14207970	14207970	Human	2	name
11612571	CV343364	single nucleotide variant	NM_001303.4(COX10):c.*974C>A	Leigh syndrome [RCV000316091]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000260745]\|not provided [RCV001778909]	benign\|likely benign	17	14208187	14208187	Human	2	name
11634836	CV344912	single nucleotide variant	NM_001303.4(COX10):c.*152T>A	Leigh syndrome [RCV000279241]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000373974]	uncertain significance	17	14207365	14207365	Human	2	name
11647483	CV344913	single nucleotide variant	NM_001303.4(COX10):c.*535C>A	Leigh syndrome [RCV000276817]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000331353]	uncertain significance	17	14207748	14207748	Human	2	name
11634646	CV344914	duplication	NM_001303.4(COX10):c.*564dup	Leigh syndrome [RCV000367377]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000263806]	uncertain significance	17	14207776	14207777	Human	2	name
11647874	CV344918	single nucleotide variant	NM_001303.4(COX10):c.*628C>G	Leigh syndrome [RCV000324664]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000279032]	uncertain significance	17	14207841	14207841	Human	2	name
11660529	CV344921	single nucleotide variant	NM_001303.4(COX10):c.*823C>T	Leigh syndrome [RCV000368052]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000402295]	uncertain significance	17	14208036	14208036	Human	2	name
14723097	CV668835	single nucleotide variant	NM_001303.3(COX10):c.-401C>T	not provided [RCV000832384]	benign	17	14069205	14069205	Human		name
28901513	CV876788	single nucleotide variant	NM_001303.4(COX10):c.*144T>C	Leigh syndrome [RCV001124824]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001124823]	uncertain significance	17	14207357	14207357	Human	2	name
28901519	CV876789	single nucleotide variant	NM_001303.4(COX10):c.*305A>G	Leigh syndrome [RCV001124825]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001124826]\|not provided [RCV003405332]	likely benign\|uncertain significance	17	14207518	14207518	Human	2	name
28907989	CV876790	single nucleotide variant	NM_001303.4(COX10):c.*485G>A	Leigh syndrome [RCV001127922]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001127921]	uncertain significance	17	14207698	14207698	Human	2	name
28907993	CV876791	single nucleotide variant	NM_001303.4(COX10):c.*539C>A	Leigh syndrome [RCV001127923]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001127924]	uncertain significance	17	14207752	14207752	Human	2	name
28894593	CV876792	single nucleotide variant	NM_001303.4(COX10):c.*628C>T	Leigh syndrome [RCV001122160]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001122159]	uncertain significance	17	14207841	14207841	Human	2	name
28894596	CV876793	single nucleotide variant	NM_001303.4(COX10):c.*653G>A	Leigh syndrome [RCV001122161]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001122162]	uncertain significance	17	14207866	14207866	Human	2	name
28901748	CV876794	single nucleotide variant	NM_001303.4(COX10):c.*720G>A	Leigh syndrome [RCV001124932]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001124931]	uncertain significance	17	14207933	14207933	Human	2	name
28904019	CV876795	single nucleotide variant	NM_001303.4(COX10):c.*859G>T	Leigh syndrome [RCV001125907]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001125908]	uncertain significance	17	14208072	14208072	Human	2	name
28904024	CV876796	single nucleotide variant	NM_001303.4(COX10):c.*894G>T	Leigh syndrome [RCV001125909]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001125910]	uncertain significance	17	14208107	14208107	Human	2	name
28904028	CV876797	single nucleotide variant	NM_001303.4(COX10):c.*904C>G	Leigh syndrome [RCV001125911]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001125912]	likely benign\|uncertain significance	17	14208117	14208117	Human	2	name
28901101	CV880464	single nucleotide variant	NM_001303.4(COX10):c.44-3T>C	Leigh syndrome [RCV001124634]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001124633]	uncertain significance	17	14074320	14074320	Human	2	name
150428531	CV1188481	single nucleotide variant	NM_001303.4(COX10):c.44-62G>A	not provided [RCV001562380]	likely benign	17	14074261	14074261	Human		name
150472576	CV1281240	duplication	NM_001303.4(COX10):c.929-7dup	not provided [RCV001713390]	benign	17	14206798	14206799	Human		name
8690750	CV140702	single nucleotide variant	NM_001303.4(COX10):c.929-7C>T	Leigh syndrome [RCV000265719]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000361435]\|not provided [RCV000676610]\|not specified [RCV000179820]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	14206803	14206803	Human	2	name
151813311	CV1494499	single nucleotide variant	NM_001303.4(COX10):c.929-9C>A	not provided [RCV001954040]	likely benign\|uncertain significance	17	14206801	14206801	Human		name
152047035	CV1561541	single nucleotide variant	NM_001303.4(COX10):c.43+10C>G	not provided [RCV002108462]	likely benign	17	14069658	14069658	Human		name
152108085	CV1634760	single nucleotide variant	NM_001303.4(COX10):c.43+12G>A	not provided [RCV002079876]	likely benign	17	14069660	14069660	Human		name
152110396	CV1665413	single nucleotide variant	NM_001303.4(COX10):c.625-8T>G	not provided [RCV002080168]	likely benign	17	14159869	14159869	Human		name
155644816	CV1710409	single nucleotide variant	NM_001303.4(COX10):c.*1188C>A	not provided [RCV002293705]	likely benign	17	14208401	14208401	Human		name
155645100	CV1710580	single nucleotide variant	NM_001303.4(COX10):c.*1145C>T	not provided [RCV002293876]	likely benign	17	14208358	14208358	Human		name
156419625	CV1973840	single nucleotide variant	NM_001303.4(COX10):c.625-9T>C	not provided [RCV002612864]	likely benign	17	14159868	14159868	Human		name
156242928	CV2148781	single nucleotide variant	NM_001303.4(COX10):c.929-6G>A	not provided [RCV003008165]	likely benign	17	14206804	14206804	Human		name
11613807	CV327308	single nucleotide variant	NM_001303.4(COX10):c.*1101C>T	Leigh syndrome [RCV000271535]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000328872]\|not provided [RCV001675813]	benign\|likely benign	17	14208314	14208314	Human	2	name
11617075	CV327310	deletion	NM_001303.4(COX10):c.*1459del	Leigh syndrome [RCV000300582]\|Mitochondrial complex 4 deficiency, nuclear type 3 [RCV003144207]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000394845]	uncertain significance	17	14208672	14208672	Human	4	name
11621640	CV337129	single nucleotide variant	NM_001303.4(COX10):c.*1367G>A	Leigh syndrome [RCV000389123]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000350985]	uncertain significance	17	14208580	14208580	Human	2	name
11615770	CV343334	single nucleotide variant	NM_001303.4(COX10):c.624+4A>G	Leigh syndrome [RCV000288666]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000343670]\|not provided [RCV000829183]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	14102246	14102246	Human	2	name
11619129	CV343366	single nucleotide variant	NM_001303.4(COX10):c.*1078C>T	Leigh syndrome [RCV000321981]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000376624]\|not provided [RCV001643004]	benign\|likely benign	17	14208291	14208291	Human	2	name
11626620	CV344924	single nucleotide variant	NM_001303.4(COX10):c.*1076T>C	Leigh syndrome [RCV000266831]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000361388]\|not provided [RCV001613030]	benign	17	14208289	14208289	Human	2	name
11627814	CV344928	single nucleotide variant	NM_001303.4(COX10):c.*1324C>T	Leigh syndrome [RCV000381119]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000288971]	benign\|likely benign	17	14208537	14208537	Human	2	name
11627941	CV344941	single nucleotide variant	NM_001303.4(COX10):c.*1385C>T	Leigh syndrome [RCV000349607]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000292528]\|not provided [RCV001541829]	benign\|likely benign	17	14208598	14208598	Human	2	name
597759879	CV3712208	single nucleotide variant	NM_001303.4(COX10):c.177+1G>A	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005018044]	likely pathogenic	17	14074457	14074457	Human	1	name
597715328	CV3712220	single nucleotide variant	NM_001303.4(COX10):c.624+5G>C	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005010154]	uncertain significance	17	14102247	14102247	Human	1	name
597715348	CV3712226	single nucleotide variant	NM_001303.4(COX10):c.928+1G>A	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005010156]	likely pathogenic	17	14192222	14192222	Human	1	name
597715358	CV3712228	single nucleotide variant	NM_001303.4(COX10):c.929-2A>C	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005010157]	likely pathogenic	17	14206808	14206808	Human	1	name
597931251	CV3745938	single nucleotide variant	NM_001303.4(COX10):c.44-13C>T	not provided [RCV005075924]	likely benign	17	14074310	14074310	Human		name
14708017	CV668706	single nucleotide variant	NM_001303.4(COX10):c.500-4G>A	not provided [RCV000827010]	likely benign	17	14102114	14102114	Human		name
28908131	CV876798	single nucleotide variant	NM_001303.4(COX10):c.*1002C>T	Leigh syndrome [RCV001128011]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001128010]	uncertain significance	17	14208215	14208215	Human	2	name
28908133	CV876799	single nucleotide variant	NM_001303.4(COX10):c.*1032T>A	Leigh syndrome [RCV001128013]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001128012]	uncertain significance	17	14208245	14208245	Human	2	name
28894832	CV876800	single nucleotide variant	NM_001303.4(COX10):c.*1079G>A	Leigh syndrome [RCV001122251]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001122250]\|not provided [RCV001779119]	benign\|likely benign\|uncertain significance	17	14208292	14208292	Human	2	name
28894837	CV876801	single nucleotide variant	NM_001303.4(COX10):c.*1148G>A	Leigh syndrome [RCV001122252]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001122253]	uncertain significance	17	14208361	14208361	Human	2	name
28894845	CV876802	single nucleotide variant	NM_001303.4(COX10):c.*1267A>G	Leigh syndrome [RCV001122255]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001122254]\|not provided [RCV001786437]	likely benign\|uncertain significance	17	14208480	14208480	Human	2	name
28901962	CV876803	single nucleotide variant	NM_001303.4(COX10):c.*1383G>A	Leigh syndrome [RCV001125029]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001125028]\|not provided [RCV001836945]	likely benign\|uncertain significance	17	14208596	14208596	Human	2	name
150415145	CV1191914	single nucleotide variant	NM_001303.4(COX10):c.43+184G>T	not provided [RCV001567854]	likely benign	17	14069832	14069832	Human		name
150466921	CV1207009	single nucleotide variant	NM_001303.4(COX10):c.500-40C>T	not provided [RCV001587801]	likely benign	17	14102078	14102078	Human		name
150516777	CV1227234	deletion	NM_001303.4(COX10):c.696-11del	not provided [RCV001639334]	benign	17	14191978	14191978	Human		name
150511833	CV1228357	single nucleotide variant	NM_001303.4(COX10):c.695+28A>G	not provided [RCV001637489]	benign	17	14159975	14159975	Human		name
150489099	CV1237590	single nucleotide variant	NM_001303.4(COX10):c.500-49T>C	not provided [RCV001654439]	benign	17	14102069	14102069	Human		name
150444675	CV1249453	single nucleotide variant	NM_001303.4(COX10):c.500-62C>T	not provided [RCV001666885]	benign	17	14102056	14102056	Human		name
150438191	CV1264789	single nucleotide variant	NM_001303.4(COX10):c.44-287G>A	not provided [RCV001678782]	benign	17	14074036	14074036	Human		name
8690749	CV140701	single nucleotide variant	NM_001303.4(COX10):c.928+12G>A	Leigh syndrome [RCV000337122]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000300689]\|not provided [RCV004709314]\|not specified [RCV000124563]	benign\|likely benign	17	14192233	14192233	Human	2	name
156266692	CV2030498	single nucleotide variant	NM_001303.4(COX10):c.625-10C>A	not provided [RCV002746496]	likely benign	17	14159867	14159867	Human		name
156046709	CV2030910	single nucleotide variant	NM_001303.4(COX10):c.500-19C>T	not provided [RCV002736374]	likely benign	17	14102099	14102099	Human		name
156060178	CV2069194	duplication	NM_001303.4(COX10):c.500-16dup	not provided [RCV002846744]	likely benign	17	14102101	14102102	Human		name
156348575	CV2146805	single nucleotide variant	NM_001303.4(COX10):c.695+19G>C	not provided [RCV003030702]	likely benign	17	14159966	14159966	Human		name
405185543	CV2967634	single nucleotide variant	NM_001303.4(COX10):c.499+20T>C	not provided [RCV003676645]	likely benign	17	14077076	14077076	Human		name
404984508	CV3121650	single nucleotide variant	NM_001303.4(COX10):c.625-17T>C	not provided [RCV003826449]	likely benign	17	14159860	14159860	Human		name
11617088	CV343363	microsatellite	NM_001303.4(COX10):c.*831CT[1]	Leigh syndrome [RCV000300799]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000355513]	benign	17	14208044	14208045	Human		name
12847362	CV375749	single nucleotide variant	NM_001303.4(COX10):c.695+11G>A	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV002502567]\|not specified [RCV000443360]	likely benign	17	14159958	14159958	Human	1	name
14712844	CV667774	single nucleotide variant	NM_001303.4(COX10):c.43+166T>C	not provided [RCV000828551]	benign	17	14069814	14069814	Human		name
14730073	CV667776	single nucleotide variant	NM_001303.4(COX10):c.929-86G>A	not provided [RCV000835510]	benign	17	14206724	14206724	Human		name
14745800	CV668700	single nucleotide variant	NM_001303.4(COX10):c.44-178G>A	not provided [RCV000843761]	benign	17	14074145	14074145	Human		name
150423514	CV1185219	single nucleotide variant	NM_001303.4(COX10):c.500-130C>T	not provided [RCV001555431]	likely benign	17	14101988	14101988	Human		name
150428339	CV1188482	single nucleotide variant	NM_001303.4(COX10):c.696-132C>A	not provided [RCV001562136]	likely benign	17	14191857	14191857	Human		name
150416097	CV1191915	single nucleotide variant	NM_001303.4(COX10):c.928+170G>A	not provided [RCV001568285]	likely benign	17	14192391	14192391	Human		name
150513861	CV1227937	single nucleotide variant	NM_001303.4(COX10):c.500-168A>G	not provided [RCV001638215]	benign	17	14101950	14101950	Human		name
150450080	CV1232633	single nucleotide variant	NM_001303.4(COX10):c.928+144T>C	not provided [RCV001647708]	benign	17	14192365	14192365	Human		name
150509384	CV1247293	single nucleotide variant	NM_001303.4(COX10):c.178-252A>G	not provided [RCV001659320]	benign	17	14076483	14076483	Human		name
150510212	CV1248566	single nucleotide variant	NM_001303.4(COX10):c.695+125G>T	not provided [RCV001659636]	benign	17	14160072	14160072	Human		name
150457625	CV1278653	single nucleotide variant	NM_001303.4(COX10):c.499+277T>G	not provided [RCV001709268]	benign	17	14077333	14077333	Human		name
14725402	CV667775	single nucleotide variant	NM_001303.4(COX10):c.177+167C>T	not provided [RCV000833424]	benign	17	14074623	14074623	Human		name
14721670	CV668839	duplication	NM_001303.4(COX10):c.178-284dup	not provided [RCV000831773]	benign	17	14076450	14076451	Human		name
14730072	CV669092	single nucleotide variant	NM_001303.4(COX10):c.624+147A>G	not provided [RCV000835509]	benign	17	14102389	14102389	Human		name
14723099	CV669095	single nucleotide variant	NM_001303.4(COX10):c.624+167T>G	not provided [RCV000832385]	benign	17	14102409	14102409	Human		name
14746087	CV669108	single nucleotide variant	NM_001303.4(COX10):c.625-227G>T	not provided [RCV000844065]	benign	17	14159650	14159650	Human		name
14745804	CV669120	single nucleotide variant	NM_001303.4(COX10):c.625-220G>A	not provided [RCV000843765]	benign	17	14159657	14159657	Human		name
14730482	CV669123	single nucleotide variant	NM_001303.4(COX10):c.695+130A>C	not provided [RCV000835702]	benign	17	14160077	14160077	Human		name
150430879	CV1243509	microsatellite	NM_001303.4(COX10):c.624+89AT[4]	not provided [RCV001663128]	benign	17	14102330	14102331	Human		name
8585258	CV119841	single nucleotide variant	NM_001303.3(COX10):c.696-13249C>T	Lung cancer [RCV000100361]	uncertain significance	17	14178740	14178740	Human		name
11650314	CV343341	deletion	NM_001303.4(COX10):c.150_152del	Leigh syndrome [RCV000319360]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000292276]	uncertain significance	17	14207352	14207354	Human	2	name
11656268	CV343352	deletion	NM_001303.4(COX10):c.151_152del	Leigh syndrome [RCV000386652]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000332249]\|not provided [RCV001541165]	benign	17	14207352	14207353	Human	2	name
11654575	CV344916	deletion	NM_001303.4(COX10):c.591_592del	Leigh syndrome [RCV000318962]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000373561]	uncertain significance	17	14207804	14207805	Human	2	name
156209141	CV2000840	duplication	NM_001303.4(COX10):c.929-8_929-7dup	not provided [RCV002666778]	likely benign	17	14206798	14206799	Human		name
156184344	CV2086481	duplication	NM_001303.4(COX10):c.929-7_929-5dup	not provided [RCV002851935]	likely benign	17	14206801	14206802	Human		name
11634985	CV327291	duplication	NM_001303.4(COX10):c.929-9_929-7dup	Leigh syndrome [RCV000399268]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000297390]\|not provided [RCV001518767]	benign\|likely benign	17	14206798	14206799	Human	2	name
155971382	CV2139754	single nucleotide variant	NM_001303.4(COX10):c.18C>T (p.His6=)	not provided [RCV002995642]	likely benign	17	14069623	14069623	Human		name
12841704	CV374850	single nucleotide variant	NM_001303.4(COX10):c.15G>T (p.Pro5=)	not specified [RCV000433044]	likely benign	17	14069620	14069620	Human		name
12899455	CV409833	duplication	NM_001303.4(COX10):c.929-10_929-7dup	not provided [RCV001696863]	likely benign	17	14206798	14206799	Human		name
8690756	CV140708	single nucleotide variant	NM_001303.4(COX10):c.33C>T (p.Arg11=)	Leigh syndrome [RCV000379378]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000315716]\|not provided [RCV000676603]\|not specified [RCV000124570]	benign\|likely benign	17	14069638	14069638	Human	2	name
8559983	CV22566	single nucleotide variant	NM_001303.4(COX10):c.2T>C (p.Met1Thr)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV000007962]	pathogenic	17	14069607	14069607	Human	1	name
12836114	CV375743	single nucleotide variant	NM_001303.4(COX10):c.48C>T (p.Cys16=)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV002506015]\|not provided [RCV002061369]\|not specified [RCV000422846]	benign\|likely benign	17	14074327	14074327	Human	1	name
405122028	CV2953993	insertion	NM_001303.4(COX10):c.929-9_929-8insTCC	not provided [RCV003667486]	likely benign	17	14206799	14206800	Human		name
405685313	CV3235714	single nucleotide variant	NM_001303.4(COX10):c.20C>G (p.Thr7Ser)	Inborn genetic diseases [RCV004372228]	uncertain significance	17	14069625	14069625	Human	1	name
11657985	CV343329	single nucleotide variant	NM_001303.4(COX10):c.123G>A (p.Arg41=)	Leigh syndrome [RCV000345876]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000400516]	uncertain significance	17	14074402	14074402	Human	2	name
11626354	CV344909	single nucleotide variant	NM_001303.4(COX10):c.192G>A (p.Leu64=)	Leigh syndrome [RCV000357092]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000262578]\|not provided [RCV002522914]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	14076749	14076749	Human	2	name
597715258	CV3712204	single nucleotide variant	NM_001303.4(COX10):c.26C>T (p.Ser9Phe)	Inborn genetic diseases [RCV005323679]\|Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005010147]	uncertain significance	17	14069631	14069631	Human	2	name
15122533	CV755609	single nucleotide variant	NM_001303.4(COX10):c.282A>G (p.Ala94=)	not provided [RCV000918663]	likely benign	17	14076839	14076839	Human		name
150434980	CV1216026	single nucleotide variant	NM_001303.4(COX10):c.535T>C (p.Leu179=)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV002501969]\|not provided [RCV001609216]	benign\|likely benign	17	14102153	14102153	Human	1	name
150474421	CV1272333	microsatellite	NM_001303.4(COX10):c.625-191_625-189del	not provided [RCV001695871]	benign	17	14159683	14159685	Human		name
151352881	CV1326228	single nucleotide variant	NM_001303.4(COX10):c.306C>T (p.Leu102=)	not provided [RCV001815815]	likely benign	17	14076863	14076863	Human		name
8690746	CV140698	single nucleotide variant	NM_001303.4(COX10):c.699A>G (p.Pro233=)	Leigh syndrome [RCV000388928]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000294930]\|not provided [RCV004709312]\|not specified [RCV000124560]	benign	17	14191992	14191992	Human	2	name
8690747	CV140699	single nucleotide variant	NM_001303.4(COX10):c.738G>A (p.Pro246=)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005008031]\|not provided [RCV004709313]\|not specified [RCV000124561]	benign\|uncertain significance	17	14192031	14192031	Human	1	name
8690751	CV140703	single nucleotide variant	NM_001303.4(COX10):c.981C>T (p.Asn327=)	Leigh syndrome [RCV000366250]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000302186]\|not provided [RCV000513362]\|not specified [RCV000124565]	benign\|likely benign\|uncertain significance	17	14206862	14206862	Human	2	name
8690754	CV140706	single nucleotide variant	NM_001303.4(COX10):c.504G>A (p.Leu168=)	Leigh syndrome [RCV000264198]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000377462]\|not provided [RCV000676608]\|not specified [RCV000124568]	benign	17	14102122	14102122	Human	2	name
8690755	CV140707	single nucleotide variant	NM_001303.4(COX10):c.83C>T (p.Thr28Ile)	Leigh syndrome [RCV000290887]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000385025]\|not provided [RCV000676604]\|not specified [RCV000124569]	benign\|likely benign	17	14074362	14074362	Human	2	name
152066048	CV1601577	single nucleotide variant	NM_001303.4(COX10):c.480A>T (p.Leu160=)	not provided [RCV002168676]	likely benign	17	14077037	14077037	Human		name
152111114	CV1651214	single nucleotide variant	NM_001303.4(COX10):c.528A>G (p.Gly176=)	not provided [RCV002134499]	likely benign	17	14102146	14102146	Human		name
153303043	CV1686129	single nucleotide variant	NM_001303.4(COX10):c.34C>T (p.Leu12Phe)	Inborn genetic diseases [RCV005321141]\|Mitochondrial complex 4 deficiency, nuclear type 3 [RCV002502072]\|not provided [RCV002261562]	uncertain significance	17	14069639	14069639	Human	2	name
156310395	CV1913449	single nucleotide variant	NM_001303.4(COX10):c.49G>A (p.Val17Ile)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005021602]\|not provided [RCV002599619]	uncertain significance	17	14074328	14074328	Human	1	name
156367797	CV1925793	single nucleotide variant	NM_001303.4(COX10):c.74A>G (p.Glu25Gly)	not provided [RCV002633144]	uncertain significance	17	14074353	14074353	Human		name
156400201	CV1982225	single nucleotide variant	NM_001303.4(COX10):c.534A>G (p.Ala178=)	not provided [RCV002635896]	likely benign	17	14102152	14102152	Human		name
156221631	CV2015526	single nucleotide variant	NM_001303.4(COX10):c.94T>G (p.Ser32Ala)	not provided [RCV002701027]	uncertain significance	17	14074373	14074373	Human		name
156179507	CV2023275	single nucleotide variant	NM_001303.4(COX10):c.561C>G (p.Pro187=)	not provided [RCV002765572]	likely benign	17	14102179	14102179	Human		name
156101831	CV2103576	single nucleotide variant	NM_001303.4(COX10):c.384A>G (p.Glu128=)	not provided [RCV002927076]	likely benign	17	14076941	14076941	Human		name
156350507	CV2122154	single nucleotide variant	NM_001303.4(COX10):c.352T>C (p.Leu118=)	not provided [RCV002966262]	likely benign	17	14076909	14076909	Human		name
156218506	CV2132652	single nucleotide variant	NM_001303.4(COX10):c.312G>A (p.Pro104=)	not provided [RCV003007283]	likely benign	17	14076869	14076869	Human		name
401781654	CV2682082	single nucleotide variant	NM_001303.4(COX10):c.86T>C (p.Ile29Thr)	Inborn genetic diseases [RCV003265310]	uncertain significance	17	14074365	14074365	Human	1	name
405145893	CV3151989	single nucleotide variant	NM_001303.4(COX10):c.516C>T (p.Thr172=)	not provided [RCV003855960]	likely benign	17	14102134	14102134	Human		name
405269097	CV3187211	single nucleotide variant	NM_001303.4(COX10):c.675G>A (p.Pro225=)	not provided [RCV003887295]	likely benign	17	14159927	14159927	Human		name
405685329	CV3235717	single nucleotide variant	NM_001303.4(COX10):c.85A>G (p.Ile29Val)	Inborn genetic diseases [RCV004372231]	likely benign	17	14074364	14074364	Human	1	name
11615333	CV327281	single nucleotide variant	NM_001303.4(COX10):c.64T>A (p.Trp22Arg)	Leigh syndrome [RCV000284888]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000339864]	uncertain significance	17	14074343	14074343	Human	2	name
11619695	CV327284	single nucleotide variant	NM_001303.4(COX10):c.543G>A (p.Pro181=)	Leigh syndrome [RCV000383020]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000328617]\|not provided [RCV001564175]	benign\|likely benign\|uncertain significance	17	14102161	14102161	Human	2	name
407425545	CV3409585	single nucleotide variant	NM_001303.4(COX10):c.921C>T (p.Leu307=)	not provided [RCV004585517]	likely benign	17	14192214	14192214	Human		name
11630457	CV344910	single nucleotide variant	NM_001303.4(COX10):c.909C>T (p.Ala303=)	Leigh syndrome [RCV000398956]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000349796]\|not provided [RCV001636907]	benign\|likely benign\|uncertain significance	17	14192202	14192202	Human	2	name
408367660	CV3511978	single nucleotide variant	NM_001303.4(COX10):c.570G>T (p.Leu190=)	COX10-related disorder [RCV004759113]	likely benign	17	14102188	14102188	Human		name , trait , alternate_id
408387640	CV3518923	single nucleotide variant	NM_001303.4(COX10):c.71T>C (p.Leu24Pro)	not provided [RCV004761242]	uncertain significance	17	14074350	14074350	Human		name
597759868	CV3712205	single nucleotide variant	NM_001303.4(COX10):c.95C>T (p.Ser32Phe)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005018042]	uncertain significance	17	14074374	14074374	Human	1	name
597759912	CV3712222	single nucleotide variant	NM_001303.4(COX10):c.657T>C (p.Asn219=)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005018050]	uncertain significance	17	14159909	14159909	Human	1	name
597939094	CV3756768	single nucleotide variant	NM_001303.4(COX10):c.387C>T (p.Asp129=)	not provided [RCV005077149]	likely benign	17	14076944	14076944	Human		name
12848181	CV375760	single nucleotide variant	NM_001303.4(COX10):c.930C>T (p.Gly310=)	not provided [RCV001703724]	likely benign	17	14206811	14206811	Human		name
12841968	CV378069	single nucleotide variant	NM_001303.4(COX10):c.93C>A (p.Asp31Glu)	COX10-related disorder [RCV003950347]\|Leigh syndrome [RCV001125643]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001125644]\|not provided [RCV001718821]	benign\|likely benign\|uncertain significance	17	14074372	14074372	Human	3	name , trait , alternate_id
597967249	CV3855764	single nucleotide variant	NM_001303.4(COX10):c.462A>G (p.Pro154=)	not provided [RCV005194744]	likely benign	17	14077019	14077019	Human		name
13445858	CV438040	single nucleotide variant	NM_001303.4(COX10):c.906G>A (p.Ala302=)	not provided [RCV000512948]	likely benign	17	14192199	14192199	Human		name
13789095	CV550059	single nucleotide variant	NM_001303.4(COX10):c.561C>T (p.Pro187=)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV002507179]\|not provided [RCV000676609]	likely benign	17	14102179	14102179	Human	1	name
14705725	CV656402	single nucleotide variant	NM_001303.4(COX10):c.675G>T (p.Pro225=)	Leigh syndrome [RCV001124726]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001124727]\|not provided [RCV000826286]	likely benign	17	14159927	14159927	Human	2	name
28903614	CV876785	single nucleotide variant	NM_001303.4(COX10):c.870G>A (p.Val290=)	Leigh syndrome [RCV001125728]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001125729]	uncertain significance	17	14192163	14192163	Human	2	name
8636025	CV91248	single nucleotide variant	NM_001303.3(COX10):c.978C>T (p.Phe326=)	Malignant melanoma [RCV000071346]	not provided	17	14206859	14206859	Human		name
151352882	CV1326229	single nucleotide variant	NM_001303.4(COX10):c.1104C>A (p.Ser368=)	not provided [RCV001815816]	likely benign\|conflicting interpretations of pathogenicity	17	14206985	14206985	Human		name
8690752	CV140704	single nucleotide variant	NM_001303.4(COX10):c.1038G>A (p.Ser346=)	Leigh syndrome [RCV000271444]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000326474]\|not provided [RCV001518584]\|not specified [RCV000124566]	benign\|likely benign	17	14206919	14206919	Human	2	name
8690757	CV140709	single nucleotide variant	NM_001303.4(COX10):c.184A>T (p.Thr62Ser)	Leigh syndrome [RCV000311575]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000401023]\|not provided [RCV000676605]\|not specified [RCV000124571]	benign\|likely benign	17	14076741	14076741	Human	2	name
8690758	CV140710	single nucleotide variant	NM_001303.4(COX10):c.290A>G (p.Tyr97Cys)	Leigh syndrome [RCV000298992]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000353817]\|not provided [RCV000676606]\|not specified [RCV000124572]	benign\|likely benign	17	14076847	14076847	Human	2	name
152159045	CV1522545	single nucleotide variant	NM_001303.4(COX10):c.1095C>T (p.Leu365=)	not provided [RCV002140599]	likely benign	17	14206976	14206976	Human		name
152034983	CV1604042	single nucleotide variant	NM_001303.4(COX10):c.1311C>T (p.Asp437=)	not provided [RCV002087065]	likely benign	17	14207192	14207192	Human		name
152049782	CV1615195	single nucleotide variant	NM_001303.4(COX10):c.1255C>T (p.Leu419=)	not provided [RCV002089006]	likely benign	17	14207136	14207136	Human		name
152038510	CV1642198	single nucleotide variant	NM_001303.4(COX10):c.1185C>T (p.Leu395=)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV002499955]\|not provided [RCV002107385]	likely benign	17	14207066	14207066	Human	1	name
156367573	CV1925734	single nucleotide variant	NM_001303.4(COX10):c.1020C>T (p.Gly340=)	not provided [RCV002633128]	likely benign	17	14206901	14206901	Human		name
155962144	CV1931637	single nucleotide variant	NM_001303.4(COX10):c.1206C>T (p.Asp402=)	not provided [RCV002616786]	likely benign	17	14207087	14207087	Human		name
156010618	CV1991829	single nucleotide variant	NM_001303.4(COX10):c.1047C>T (p.His349=)	not provided [RCV002618885]	likely benign	17	14206928	14206928	Human		name
156241330	CV2043670	single nucleotide variant	NM_001303.4(COX10):c.1120C>T (p.Leu374=)	not provided [RCV002805687]	likely benign	17	14207001	14207001	Human		name
156001109	CV2057433	single nucleotide variant	NM_001303.4(COX10):c.170A>G (p.Lys57Arg)	not provided [RCV002819653]	uncertain significance	17	14074449	14074449	Human		name
155979263	CV2101517	single nucleotide variant	NM_001303.4(COX10):c.296T>G (p.Met99Arg)	not provided [RCV002907623]	uncertain significance	17	14076853	14076853	Human		name
156002798	CV2119104	single nucleotide variant	NM_001303.4(COX10):c.249C>G (p.Phe83Leu)	Inborn genetic diseases [RCV002975264]\|not provided [RCV002975263]	uncertain significance	17	14076806	14076806	Human	1	name
156251946	CV2130219	single nucleotide variant	NM_001303.4(COX10):c.212A>T (p.Gln71Leu)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005019513]\|not provided [RCV002959240]	uncertain significance	17	14076769	14076769	Human	1	name
243056944	CV2414877	single nucleotide variant	NM_001303.4(COX10):c.172C>T (p.Arg58Cys)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV003145863]	uncertain significance	17	14074451	14074451	Human	1	name
401875606	CV2749984	deletion	NM_001303.4(COX10):c.620del (p.Asn207fs)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV003333397]	likely pathogenic	17	14102237	14102237	Human	1	name
405197866	CV2869860	single nucleotide variant	NM_001303.4(COX10):c.1293G>A (p.Arg431=)	not provided [RCV003550996]	likely benign	17	14207174	14207174	Human		name
405010894	CV2933642	single nucleotide variant	NM_001303.4(COX10):c.1263G>A (p.Leu421=)	not provided [RCV003576723]	likely benign	17	14207144	14207144	Human		name
405221623	CV3038597	single nucleotide variant	NM_001303.4(COX10):c.1281C>A (p.Leu427=)	not provided [RCV003710059]	likely benign	17	14207162	14207162	Human		name
405153115	CV3135095	single nucleotide variant	NM_001303.4(COX10):c.1281C>T (p.Leu427=)	not provided [RCV003840207]	likely benign	17	14207162	14207162	Human		name
405201763	CV3165002	single nucleotide variant	NM_001303.4(COX10):c.1260G>T (p.Pro420=)	not provided [RCV003860863]	likely benign	17	14207141	14207141	Human		name
11618567	CV343332	single nucleotide variant	NM_001303.4(COX10):c.173G>A (p.Arg58His)	Inborn genetic diseases [RCV003243077]\|Leigh syndrome [RCV000315497]\|Mitochondrial complex 4 deficiency, nuclear type 3 [RCV002495013]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000351189]\|not provided [RCV001859908]	uncertain significance	17	14074452	14074452	Human	5	name
597715269	CV3712206	single nucleotide variant	NM_001303.4(COX10):c.145A>G (p.Thr49Ala)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005010148]	uncertain significance	17	14074424	14074424	Human	1	name
597759874	CV3712207	single nucleotide variant	NM_001303.4(COX10):c.155A>C (p.His52Pro)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005018043]	uncertain significance	17	14074434	14074434	Human	1	name
597759885	CV3712209	single nucleotide variant	NM_001303.4(COX10):c.212A>G (p.Gln71Arg)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005018045]	uncertain significance	17	14076769	14076769	Human	1	name
597715280	CV3712210	single nucleotide variant	NM_001303.4(COX10):c.232C>G (p.Pro78Ala)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005010149]	uncertain significance	17	14076789	14076789	Human	1	name
597759890	CV3712211	single nucleotide variant	NM_001303.4(COX10):c.233C>G (p.Pro78Arg)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005018046]	uncertain significance	17	14076790	14076790	Human	1	name
597715291	CV3712212	single nucleotide variant	NM_001303.4(COX10):c.238G>A (p.Ala80Thr)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005010150]	uncertain significance	17	14076795	14076795	Human	1	name
597715300	CV3712213	single nucleotide variant	NM_001303.4(COX10):c.250C>T (p.Leu84Phe)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005010151]	uncertain significance	17	14076807	14076807	Human	1	name
597759895	CV3712214	single nucleotide variant	NM_001303.4(COX10):c.295A>G (p.Met99Val)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005018047]	uncertain significance	17	14076852	14076852	Human	1	name
597759930	CV3712233	single nucleotide variant	NM_001303.4(COX10):c.1095C>A (p.Leu365=)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005018053]	uncertain significance	17	14206976	14206976	Human	1	name
597840474	CV3756090	single nucleotide variant	NM_001303.4(COX10):c.1065C>T (p.Arg355=)	not provided [RCV005086362]	likely benign	17	14206946	14206946	Human		name
12846844	CV375953	single nucleotide variant	NM_001303.4(COX10):c.1305C>G (p.Gly435=)	not provided [RCV002525377]\|not specified [RCV000442425]	likely benign	17	14207186	14207186	Human		name
12840851	CV378074	single nucleotide variant	NM_001303.4(COX10):c.1200C>T (p.Tyr400=)	not provided [RCV000920912]\|not specified [RCV000431503]	likely benign	17	14207081	14207081	Human		name
597956747	CV3838301	single nucleotide variant	NM_001303.4(COX10):c.1041C>T (p.Val347=)	not provided [RCV005191676]	likely benign	17	14206922	14206922	Human		name
597965372	CV3848337	single nucleotide variant	NM_001303.4(COX10):c.1050G>A (p.Pro350=)	not provided [RCV005194217]	likely benign	17	14206931	14206931	Human		name
598234709	CV3945053	single nucleotide variant	NM_001303.4(COX10):c.289T>A (p.Tyr97Asn)	Inborn genetic diseases [RCV005320122]	uncertain significance	17	14076846	14076846	Human	1	name
13536605	CV506688	single nucleotide variant	NM_001303.4(COX10):c.1071G>A (p.Ala357=)	not specified [RCV000609242]	likely benign	17	14206952	14206952	Human		name
14705712	CV656403	single nucleotide variant	NM_001303.4(COX10):c.1299C>T (p.Ser433=)	not provided [RCV000826282]	likely benign	17	14207180	14207180	Human		name
15140029	CV740571	single nucleotide variant	NM_001303.4(COX10):c.260C>T (p.Thr87Ile)	Leigh syndrome [RCV001127733]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001127734]\|not provided [RCV000899247]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	14076817	14076817	Human	2	name
15135403	CV771250	single nucleotide variant	NM_001303.4(COX10):c.1260G>A (p.Pro420=)	not provided [RCV000942914]	likely benign	17	14207141	14207141	Human		name
28894357	CV876787	single nucleotide variant	NM_001303.4(COX10):c.1305C>T (p.Gly435=)	Leigh syndrome [RCV001122056]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001122057]\|not provided [RCV002556626]	likely benign\|uncertain significance	17	14207186	14207186	Human	2	name
126726310	CV1018235	single nucleotide variant	NM_001303.4(COX10):c.394G>T (p.Asp132Tyr)	Inborn genetic diseases [RCV003169552]\|Leigh syndrome [RCV001331898]\|Mitochondrial complex 4 deficiency, nuclear type 3 [RCV002476548]\|not provided [RCV001865746]	uncertain significance	17	14076951	14076951	Human	3	name
126726312	CV1018236	single nucleotide variant	NM_001303.4(COX10):c.637C>T (p.Pro213Ser)	Mitochondrial complex IV deficiency, nuclear type 1 [RCV001331899]\|not provided [RCV004698545]	uncertain significance\|not provided	17	14159889	14159889	Human	1	name
126726314	CV1018237	single nucleotide variant	NM_001303.4(COX10):c.679G>A (p.Val227Ile)	Mitochondrial complex IV deficiency, nuclear type 1 [RCV001331900]\|not provided [RCV001865747]	uncertain significance	17	14159931	14159931	Human	1	name
127286818	CV1152754	single nucleotide variant	NM_001303.4(COX10):c.338C>G (p.Pro113Arg)	not provided [RCV001507373]	uncertain significance	17	14076895	14076895	Human		name
127286820	CV1152755	single nucleotide variant	NM_001303.4(COX10):c.688C>T (p.Gln230Ter)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005005942]\|not provided [RCV001507374]	likely pathogenic	17	14159940	14159940	Human	1	name
150492725	CV1281389	insertion	NM_001303.4(COX10):c.177+43_177+44insATTT	not provided [RCV001716869]	benign	17	14074496	14074497	Human		name
8690748	CV140700	single nucleotide variant	NM_001303.4(COX10):c.773T>A (p.Leu258His)	not specified [RCV000202783]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	14192066	14192066	Human		name
8690759	CV140711	single nucleotide variant	NM_001303.4(COX10):c.302C>T (p.Pro101Leu)	Leigh syndrome [RCV001127736]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001127735]\|not provided [RCV000975987]\|not specified [RCV000124573]	benign\|likely benign\|uncertain significance	17	14076859	14076859	Human	2	name
8690760	CV140712	single nucleotide variant	NM_001303.4(COX10):c.476G>A (p.Arg159Gln)	Leigh syndrome [RCV000268376]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000322790]\|not provided [RCV000676607]\|not specified [RCV000124574]	benign	17	14077033	14077033	Human	2	name
8690761	CV140713	single nucleotide variant	NM_001303.4(COX10):c.682C>T (p.Arg228Cys)	Leigh syndrome [RCV001124728]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001124729]\|not provided [RCV000223992]\|not specified [RCV000124575]	benign\|likely benign\|uncertain significance	17	14159934	14159934	Human	2	name
151844405	CV1408895	single nucleotide variant	NM_001303.4(COX10):c.625T>C (p.Phe209Leu)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV002492316]\|not provided [RCV002015723]	uncertain significance	17	14159877	14159877	Human	1	name
151773986	CV1430728	single nucleotide variant	NM_001303.4(COX10):c.520G>A (p.Ala174Thr)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV002482574]\|not provided [RCV001864339]	uncertain significance	17	14102138	14102138	Human	1	name
151887811	CV1439487	single nucleotide variant	NM_001303.4(COX10):c.995G>T (p.Gly332Val)	not provided [RCV002038268]	uncertain significance	17	14206876	14206876	Human		name
155802904	CV1857840	single nucleotide variant	NM_001303.4(COX10):c.793T>G (p.Phe265Val)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005008589]\|not provided [RCV002461690]	uncertain significance	17	14192086	14192086	Human	1	name
156343857	CV1871536	single nucleotide variant	NM_001303.4(COX10):c.683G>A (p.Arg228His)	not provided [RCV003064400]	uncertain significance	17	14159935	14159935	Human		name
156364368	CV1901678	single nucleotide variant	NM_001303.4(COX10):c.524C>T (p.Ala175Val)	Inborn genetic diseases [RCV002585230]\|Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005021588]\|not provided [RCV002602716]	uncertain significance	17	14102142	14102142	Human	2	name
156216479	CV1963339	single nucleotide variant	NM_001303.4(COX10):c.524C>G (p.Ala175Gly)	not provided [RCV002575351]	uncertain significance	17	14102142	14102142	Human		name
156343287	CV1974250	single nucleotide variant	NM_001303.4(COX10):c.611A>G (p.Asn204Ser)	not provided [RCV002601395]	uncertain significance	17	14102229	14102229	Human		name
156173797	CV2026509	single nucleotide variant	NM_001303.4(COX10):c.965A>C (p.Gln322Pro)	not provided [RCV002765400]	uncertain significance	17	14206846	14206846	Human		name
155984827	CV2070321	single nucleotide variant	NM_001303.4(COX10):c.563G>A (p.Cys188Tyr)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005019411]\|not provided [RCV002842692]	uncertain significance	17	14102181	14102181	Human	1	name
155936898	CV2074962	single nucleotide variant	NM_001303.4(COX10):c.674C>G (p.Pro225Arg)	not provided [RCV002861505]	uncertain significance	17	14159926	14159926	Human		name
156148791	CV2154310	single nucleotide variant	NM_001303.4(COX10):c.456T>G (p.Asp152Glu)	not provided [RCV003022779]	uncertain significance	17	14077013	14077013	Human		name
8559978	CV22561	single nucleotide variant	NM_001303.4(COX10):c.612C>A (p.Asn204Lys)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV000007956]	pathogenic	17	14102230	14102230	Human	1	name
8559979	CV22562	single nucleotide variant	NM_001303.4(COX10):c.587C>A (p.Thr196Lys)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV000007958]	pathogenic	17	14102205	14102205	Human	1	name
8559980	CV22563	single nucleotide variant	NM_001303.4(COX10):c.674C>T (p.Pro225Leu)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV000007959]	pathogenic\|likely pathogenic	17	14159926	14159926	Human	1	name
156020152	CV2309463	single nucleotide variant	NM_001303.4(COX10):c.454G>T (p.Asp152Tyr)	Inborn genetic diseases [RCV002884906]\|not provided [RCV004698580]	uncertain significance\|not provided	17	14077011	14077011	Human	1	name
155978778	CV2339974	single nucleotide variant	NM_001303.4(COX10):c.908C>A (p.Ala303Asp)	Inborn genetic diseases [RCV002973648]\|Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005011162]\|not provided [RCV004698582]	uncertain significance\|not provided	17	14192201	14192201	Human	2	name
156434205	CV2401863	single nucleotide variant	NM_001303.4(COX10):c.878C>T (p.Ala293Val)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV003110146]	uncertain significance	17	14192171	14192171	Human	1	name
329402040	CV2453947	single nucleotide variant	NM_001303.4(COX10):c.713C>T (p.Ser238Phe)	Inborn genetic diseases [RCV003199012]	uncertain significance	17	14192006	14192006	Human	1	name
401728341	CV2672885	single nucleotide variant	NM_001303.4(COX10):c.599C>A (p.Ser200Tyr)	Inborn genetic diseases [RCV003247427]\|Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005021874]	uncertain significance	17	14102217	14102217	Human	2	name
401728136	CV2685890	single nucleotide variant	NM_001303.4(COX10):c.727T>A (p.Cys243Ser)	Inborn genetic diseases [RCV003270452]	uncertain significance	17	14192020	14192020	Human	1	name
11638512	CV271669	single nucleotide variant	NM_001303.4(COX10):c.781G>T (p.Ala261Ser)	Inborn genetic diseases [RCV003165752]\|Mitochondrial complex 4 deficiency, nuclear type 3 [RCV002487248]\|not provided [RCV000305071]	uncertain significance	17	14192074	14192074	Human	2	name
401883976	CV2764758	single nucleotide variant	NM_001303.4(COX10):c.922G>A (p.Asp308Asn)	Inborn genetic diseases [RCV003366021]\|Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005012886]	uncertain significance	17	14192215	14192215	Human	2	name
401883783	CV2785764	single nucleotide variant	NM_001303.4(COX10):c.542C>T (p.Pro181Leu)	Inborn genetic diseases [RCV003386269]\|Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005021928]	uncertain significance	17	14102160	14102160	Human	2	name
401904122	CV2814973	single nucleotide variant	NM_001303.4(COX10):c.858G>C (p.Trp286Cys)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005012956]\|not provided [RCV003419664]	uncertain significance	17	14192151	14192151	Human	1	name
401961030	CV2844434	single nucleotide variant	NM_001303.4(COX10):c.523G>T (p.Ala175Ser)	Inborn genetic diseases [RCV005323453]\|not provided [RCV003480229]	uncertain significance	17	14102141	14102141	Human	1	name
405685319	CV3235715	single nucleotide variant	NM_001303.4(COX10):c.368C>T (p.Pro123Leu)	Inborn genetic diseases [RCV004372229]	uncertain significance	17	14076925	14076925	Human	1	name
405685324	CV3235716	single nucleotide variant	NM_001303.4(COX10):c.435G>C (p.Glu145Asp)	Inborn genetic diseases [RCV004372230]	uncertain significance	17	14076992	14076992	Human	1	name
405685333	CV3235718	single nucleotide variant	NM_001303.4(COX10):c.866C>T (p.Ala289Val)	Inborn genetic diseases [RCV004372232]	uncertain significance	17	14192159	14192159	Human	1	name
405685338	CV3235719	single nucleotide variant	NM_001303.4(COX10):c.937C>T (p.Leu313Phe)	Inborn genetic diseases [RCV004372233]	uncertain significance	17	14206818	14206818	Human	1	name
407456793	CV3423404	single nucleotide variant	NM_001303.4(COX10):c.334A>G (p.Lys112Glu)	Inborn genetic diseases [RCV004610868]	uncertain significance	17	14076891	14076891	Human	1	name
597664012	CV3654292	single nucleotide variant	NM_001303.4(COX10):c.836G>A (p.Arg279Lys)	Inborn genetic diseases [RCV004979084]	uncertain significance	17	14192129	14192129	Human	1	name
597628846	CV3654293	single nucleotide variant	NM_001303.4(COX10):c.491A>C (p.Lys164Thr)	Inborn genetic diseases [RCV004979085]\|Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005006618]	uncertain significance	17	14077048	14077048	Human	2	name
597664018	CV3654294	single nucleotide variant	NM_001303.4(COX10):c.395A>T (p.Asp132Val)	Inborn genetic diseases [RCV004979086]	uncertain significance	17	14076952	14076952	Human	1	name
597628851	CV3654295	single nucleotide variant	NM_001303.4(COX10):c.845T>C (p.Ile282Thr)	Inborn genetic diseases [RCV004979087]\|Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005006619]	uncertain significance	17	14192138	14192138	Human	2	name
597715309	CV3712215	single nucleotide variant	NM_001303.4(COX10):c.385G>T (p.Asp129Tyr)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005010152]	uncertain significance	17	14076942	14076942	Human	1	name
597715318	CV3712216	single nucleotide variant	NM_001303.4(COX10):c.412A>T (p.Lys138Ter)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005010153]	likely pathogenic	17	14076969	14076969	Human	1	name
597759900	CV3712217	single nucleotide variant	NM_001303.4(COX10):c.424C>T (p.Arg142Trp)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005018048]	uncertain significance	17	14076981	14076981	Human	1	name
597759907	CV3712219	single nucleotide variant	NM_001303.4(COX10):c.558G>T (p.Trp186Cys)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005018049]	uncertain significance	17	14102176	14102176	Human	1	name
597715338	CV3712221	single nucleotide variant	NM_001303.4(COX10):c.638C>T (p.Pro213Leu)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005010155]	uncertain significance	17	14159890	14159890	Human	1	name
597759917	CV3712224	single nucleotide variant	NM_001303.4(COX10):c.770C>T (p.Pro257Leu)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005018051]	uncertain significance	17	14192063	14192063	Human	1	name
597759923	CV3712225	single nucleotide variant	NM_001303.4(COX10):c.920T>C (p.Leu307Pro)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005018052]	uncertain significance	17	14192213	14192213	Human	1	name
597715381	CV3712229	single nucleotide variant	NM_001303.4(COX10):c.931G>A (p.Ala311Thr)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005010159]\|not provided [RCV005241576]	uncertain significance	17	14206812	14206812	Human	1	name
597715392	CV3712230	single nucleotide variant	NM_001303.4(COX10):c.958T>C (p.Ser320Pro)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005010160]	uncertain significance	17	14206839	14206839	Human	1	name
12835810	CV375951	single nucleotide variant	NM_001303.4(COX10):c.425G>A (p.Arg142Gln)	not provided [RCV004698494]\|not specified [RCV000422327]	likely benign\|not provided	17	14076982	14076982	Human		name
597854910	CV3762603	single nucleotide variant	NM_001303.4(COX10):c.514A>G (p.Thr172Ala)	not specified [RCV005088521]	uncertain significance	17	14102132	14102132	Human		name
597924974	CV3863389	single nucleotide variant	NM_001303.4(COX10):c.911C>T (p.Thr304Met)	not provided [RCV005205714]	uncertain significance	17	14192204	14192204	Human		name
12913683	CV422145	single nucleotide variant	NM_001303.4(COX10):c.445C>T (p.Gln149Ter)	not provided [RCV000494123]	likely pathogenic	17	14077002	14077002	Human		name
13481437	CV445696	single nucleotide variant	NM_001303.4(COX10):c.311C>T (p.Pro104Leu)	Leigh syndrome [RCV001127737]\|Mitochondrial complex 4 deficiency, nuclear type 3 [RCV002476049]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001127738]\|not provided [RCV000521510]	conflicting interpretations of pathogenicity\|uncertain significance	17	14076868	14076868	Human	4	name
13515517	CV489521	single nucleotide variant	NM_001303.4(COX10):c.307T>G (p.Ser103Ala)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV002483588]\|not provided [RCV000594379]	uncertain significance	17	14076864	14076864	Human	1	name
13703152	CV538463	single nucleotide variant	NM_001303.4(COX10):c.982G>A (p.Ala328Thr)	Mitochondrial complex IV deficiency, nuclear type 1 [RCV000660403]\|not provided [RCV002532013]	conflicting interpretations of pathogenicity\|uncertain significance	17	14206863	14206863	Human	1	name
14393556	CV610054	single nucleotide variant	NM_001303.4(COX10):c.380T>C (p.Ile127Thr)	not provided [RCV000755984]	uncertain significance	17	14076937	14076937	Human		name
21075587	CV797486	single nucleotide variant	NM_001303.4(COX10):c.763G>A (p.Val255Met)	not provided [RCV000996498]	uncertain significance	17	14192056	14192056	Human		name
21074950	CV798710	single nucleotide variant	NM_001303.4(COX10):c.661A>G (p.Thr221Ala)	Mitochondrial complex IV deficiency, nuclear type 1 [RCV000995746]\|not provided [RCV004698524]	likely pathogenic\|not provided	17	14159913	14159913	Human	1	name
28903609	CV876784	single nucleotide variant	NM_001303.4(COX10):c.736C>T (p.Pro246Ser)	Leigh syndrome [RCV001125726]\|Mitochondrial complex 4 deficiency, nuclear type 3 [RCV002491393]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001125727]	uncertain significance	17	14192029	14192029	Human	4	name
126726308	CV1018238	single nucleotide variant	NM_001303.4(COX10):c.1064G>A (p.Arg355His)	Inborn genetic diseases [RCV003263968]\|Leigh syndrome [RCV001331897]\|not provided [RCV002546517]	uncertain significance	17	14206945	14206945	Human	2	name
126732129	CV1021586	single nucleotide variant	NM_001303.4(COX10):c.1186G>A (p.Gly396Ser)	Leigh syndrome [RCV001333920]\|Mitochondrial complex 4 deficiency, nuclear type 3 [RCV002486334]	uncertain significance	17	14207067	14207067	Human	2	name
126732134	CV1021587	single nucleotide variant	NM_001303.4(COX10):c.1192C>T (p.Arg398Cys)	Inborn genetic diseases [RCV004035770]\|Leigh syndrome [RCV001333921]\|Mitochondrial complex 4 deficiency, nuclear type 3 [RCV002486335]\|not provided [RCV002546661]	uncertain significance	17	14207073	14207073	Human	3	name
127286822	CV1152756	single nucleotide variant	NM_001303.4(COX10):c.1070C>T (p.Ala357Val)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV002501736]\|not provided [RCV001507375]	uncertain significance	17	14206951	14206951	Human	1	name
150546645	CV1291575	single nucleotide variant	NM_001303.4(COX10):c.1066G>A (p.Val356Met)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005006002]\|not provided [RCV001733344]	uncertain significance	17	14206947	14206947	Human	1	name
151351285	CV1323811	single nucleotide variant	NM_001303.4(COX10):c.1096G>A (p.Val366Met)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV002482339]\|not provided [RCV001810357]	uncertain significance	17	14206977	14206977	Human	1	name
8690753	CV140705	single nucleotide variant	NM_001303.4(COX10):c.1096G>T (p.Val366Leu)	Leigh syndrome [RCV001127831]\|Mitochondrial complex 4 deficiency, nuclear type 3 [RCV001802947]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001127832]\|not provided [RCV000961080]\|not specified [RCV000124567]	benign\|likely benign\|uncertain significance	17	14206977	14206977	Human	4	name
153303049	CV1686131	single nucleotide variant	NM_001303.4(COX10):c.1139C>T (p.Thr380Ile)	not provided [RCV002261564]	uncertain significance	17	14207020	14207020	Human		name
153303053	CV1686132	single nucleotide variant	NM_001303.4(COX10):c.1214G>T (p.Arg405Leu)	not provided [RCV002261565]	uncertain significance	17	14207095	14207095	Human		name
155699123	CV1777390	single nucleotide variant	NM_001303.4(COX10):c.1315G>A (p.Gly439Arg)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005008530]\|not provided [RCV002295508]	uncertain significance	17	14207196	14207196	Human	1	name
156343875	CV1871538	single nucleotide variant	NM_001303.4(COX10):c.1015C>T (p.Arg339Trp)	not provided [RCV003064401]	uncertain significance	17	14206896	14206896	Human		name
156409587	CV1922767	single nucleotide variant	NM_001303.4(COX10):c.1286G>A (p.Cys429Tyr)	not provided [RCV002607601]	uncertain significance	17	14207167	14207167	Human		name
155962168	CV1931638	single nucleotide variant	NM_001303.4(COX10):c.1312G>A (p.Ala438Thr)	not provided [RCV002616787]	uncertain significance	17	14207193	14207193	Human		name
156443917	CV1941193	single nucleotide variant	NM_001303.4(COX10):c.1316G>A (p.Gly439Glu)	not provided [RCV003114829]	uncertain significance	17	14207197	14207197	Human		name
156125284	CV2223549	single nucleotide variant	NM_001303.4(COX10):c.1060C>T (p.Arg354Trp)	Inborn genetic diseases [RCV002708109]	uncertain significance	17	14206941	14206941	Human	1	name
8559981	CV22564	single nucleotide variant	NM_001303.4(COX10):c.1007A>T (p.Asp336Val)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV000007960]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000995747]\|not provided [RCV003555963]	pathogenic\|likely pathogenic	17	14206888	14206888	Human	3	name
8559982	CV22565	single nucleotide variant	NM_001303.4(COX10):c.1007A>G (p.Asp336Gly)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV000007961]	pathogenic	17	14206888	14206888	Human	1	name
156093312	CV2300213	single nucleotide variant	NM_001303.4(COX10):c.1090C>G (p.Leu364Val)	Inborn genetic diseases [RCV002869966]	uncertain significance	17	14206971	14206971	Human	1	name
11350942	CV236938	single nucleotide variant	NM_001303.4(COX10):c.1193G>A (p.Arg398His)	Inborn genetic diseases [RCV002516218]\|Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005008175]\|not provided [RCV000224667]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	14207074	14207074	Human	2	name
156434203	CV2401862	single nucleotide variant	NM_001303.4(COX10):c.1037C>T (p.Ser346Leu)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV003110145]	uncertain significance	17	14206918	14206918	Human	1	name
401727152	CV2714841	single nucleotide variant	NM_001303.4(COX10):c.1162A>C (p.Ile388Leu)	Inborn genetic diseases [RCV003246635]	uncertain significance	17	14207043	14207043	Human	1	name
401875848	CV2750080	single nucleotide variant	NM_001303.4(COX10):c.1262T>C (p.Leu421Pro)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV003333497]	uncertain significance	17	14207143	14207143	Human	1	name
401881638	CV2783905	single nucleotide variant	NM_001303.4(COX10):c.1310A>T (p.Asp437Val)	Inborn genetic diseases [RCV003385426]	uncertain significance	17	14207191	14207191	Human	1	name
405685303	CV3235712	single nucleotide variant	NM_001303.4(COX10):c.1277T>C (p.Met426Thr)	Inborn genetic diseases [RCV004372226]	uncertain significance	17	14207158	14207158	Human	1	name
405685308	CV3235713	single nucleotide variant	NM_001303.4(COX10):c.1300G>A (p.Gly434Arg)	Inborn genetic diseases [RCV004372227]\|not provided [RCV005103372]	uncertain significance	17	14207181	14207181	Human	1	name
596933014	CV3539643	single nucleotide variant	NM_001303.4(COX10):c.1063C>T (p.Arg355Cys)	not provided [RCV004794268]	uncertain significance	17	14206944	14206944	Human		name
12850195	CV364235	single nucleotide variant	NM_001303.4(COX10):c.1027T>C (p.Cys343Arg)	Inborn genetic diseases [RCV002524739]\|Leigh syndrome [RCV001333919]\|Mitochondrial complex 4 deficiency, nuclear type 3 [RCV002480280]\|not provided [RCV000442977]	uncertain significance	17	14206908	14206908	Human	3	name
597664025	CV3654296	single nucleotide variant	NM_001303.4(COX10):c.1001G>A (p.Arg334His)	Inborn genetic diseases [RCV004979088]	uncertain significance	17	14206882	14206882	Human	1	name
597664029	CV3654297	single nucleotide variant	NM_001303.4(COX10):c.1207G>A (p.Ala403Thr)	Inborn genetic diseases [RCV004979089]	uncertain significance	17	14207088	14207088	Human	1	name
597715403	CV3712231	single nucleotide variant	NM_001303.4(COX10):c.1021G>A (p.Gly341Ser)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005010161]	uncertain significance	17	14206902	14206902	Human	1	name
597715413	CV3712232	single nucleotide variant	NM_001303.4(COX10):c.1049C>T (p.Pro350Leu)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005010162]	uncertain significance	17	14206930	14206930	Human	1	name
597715425	CV3712234	single nucleotide variant	NM_001303.4(COX10):c.1105G>A (p.Ala369Thr)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005010163]	uncertain significance	17	14206986	14206986	Human	1	name
597715437	CV3712236	single nucleotide variant	NM_001303.4(COX10):c.1143C>A (p.Phe381Leu)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005010164]	uncertain significance	17	14207024	14207024	Human	1	name
597715449	CV3712237	single nucleotide variant	NM_001303.4(COX10):c.1154C>G (p.Ala385Gly)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005010165]	uncertain significance	17	14207035	14207035	Human	1	name
597759935	CV3712238	single nucleotide variant	NM_001303.4(COX10):c.1159C>T (p.Pro387Ser)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005018054]	uncertain significance	17	14207040	14207040	Human	1	name
597715482	CV3712241	single nucleotide variant	NM_001303.4(COX10):c.1292G>A (p.Arg431Gln)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005010168]	uncertain significance	17	14207173	14207173	Human	1	name
597715493	CV3712243	single nucleotide variant	NM_001303.4(COX10):c.1292G>C (p.Arg431Pro)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005010169]	likely benign	17	14207173	14207173	Human	1	name
597715505	CV3712244	single nucleotide variant	NM_001303.4(COX10):c.1295C>T (p.Pro432Leu)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005010170]	uncertain significance	17	14207176	14207176	Human	1	name
597759953	CV3712245	single nucleotide variant	NM_001303.4(COX10):c.1306G>A (p.Gly436Arg)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005018057]	uncertain significance	17	14207187	14207187	Human	1	name
597918918	CV3811600	single nucleotide variant	NM_001303.4(COX10):c.1309G>T (p.Asp437Tyr)	not provided [RCV005155431]	uncertain significance	17	14207190	14207190	Human		name
12893499	CV409834	single nucleotide variant	NM_001303.4(COX10):c.1225C>T (p.Arg409Trp)	not provided [RCV000479216]\|not specified [RCV004526686]	likely pathogenic\|uncertain significance	17	14207106	14207106	Human		name
13446397	CV438041	single nucleotide variant	NM_001303.4(COX10):c.1061G>A (p.Arg354Gln)	Inborn genetic diseases [RCV002524962]\|Leigh syndrome [RCV000764104]\|Mitochondrial complex 4 deficiency, nuclear type 3 [RCV003105935]\|not provided [RCV000513659]	uncertain significance	17	14206942	14206942	Human	5	name
13462752	CV439243	single nucleotide variant	NM_001303.4(COX10):c.1291C>T (p.Arg431Trp)	COX10-related disorder [RCV003925530]\|Leigh syndrome [RCV001122054]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001122055]\|not provided [RCV000514768]\|not specified [RCV000603785]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	14207172	14207172	Human	3	name , trait , alternate_id
28894349	CV876786	single nucleotide variant	NM_001303.4(COX10):c.1169C>T (p.Ala390Val)	Inborn genetic diseases [RCV004032234]\|Leigh syndrome [RCV001122052]\|Mitochondrial complex 4 deficiency, nuclear type 3 [RCV002497532]\|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001122053]\|not provided [RCV001593283]	uncertain significance	17	14207050	14207050	Human	5	name
126737242	CV1000994	microsatellite	NM_001303.4(COX10):c.724TGT[1] (p.Cys243del)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV003145548]\|not provided [RCV001311874]	uncertain significance	17	14192016	14192018	Human		name
152156689	CV1668675	deletion	NM_001303.4(COX10):c.413_414del (p.Lys138fs)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV002222901]\|not provided [RCV004698565]	likely pathogenic\|not provided	17	14076968	14076969	Human	1	name
598234712	CV3945054	duplication	NM_001303.4(COX10):c.851_855dup (p.Trp286fs)	Inborn genetic diseases [RCV005320123]	likely pathogenic	17	14192141	14192142	Human	1	name
156199436	CV2034648	inversion	NM_001303.4(COX10):c.503_504inv (p.Leu168Pro)	not provided [RCV002766180]	uncertain significance	17	14102121	14102122	Human		name
597715458	CV3712239	microsatellite	NM_001303.4(COX10):c.1235TCT[1] (p.Phe413del)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005010166]	uncertain significance	17	14207115	14207117	Human		name
405254459	CV3055381	indel	NM_001303.4(COX10):c.1108_1109delinsAT (p.Ala370Ile)	not provided [RCV003723020]	uncertain significance	17	14206989	14206990	Human		name
597715471	CV3712240	microsatellite	NM_001303.4(COX10):c.1260GCT[6] (p.Leu425_Met426insLeu)	Mitochondrial complex 4 deficiency, nuclear type 3 [RCV005010167]	uncertain significance	17	14207140	14207141	Human		name
156030306	CV2052214	microsatellite	NM_001303.4(COX10):c.1260GCT[7] (p.Leu425_Met426insLeuLeu)	not provided [RCV002821035]	uncertain significance	17	14207140	14207141	Human		name

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