Cox15 Variant Search Result - Rat Genome Database

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486 records found for search term Cox15

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8570775	CV48743	variation	COX15, SER151TER	Congenital myasthenic syndrome, acetazolamide-responsive [RCV000033254]\|Leigh syndrome due to mitochondrial complex IV deficiency [RCV000033254]	pathogenic				Human		name
8559153	CV21215	single nucleotide variant	COX15, IVS3, C-G, -3	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV000006553]	pathogenic				Human		name
8690762	CV140714	single nucleotide variant	NM_078470.6(COX15):c.-23G>T	Leigh syndrome [RCV001103675]\|not specified [RCV000124576]	benign\|uncertain significance	10	99732072	99732072	Human	1	name
11603297	CV311957	single nucleotide variant	NM_004376.7(COX15):c.-84G>A	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV002487323]\|Leigh syndrome [RCV000298560]	uncertain significance	10	99732133	99732133	Human	2	name
11609613	CV323610	single nucleotide variant	NM_078470.6(COX15):c.-26A>G	Leigh syndrome [RCV000370770]	uncertain significance	10	99732075	99732075	Human	1	name
11663805	CV324329	single nucleotide variant	NM_078470.6(COX15):c.-71T>C	Leigh syndrome [RCV000399762]	uncertain significance	10	99732120	99732120	Human	1	name
150413223	CV1191124	single nucleotide variant	NM_078470.6(COX15):c.*316A>G	not provided [RCV001567135]	likely benign	10	99714271	99714271	Human		name
156375935	CV1917599	single nucleotide variant	NM_078470.6(COX15):c.90+1G>A	not provided [RCV002603581]	likely pathogenic	10	99731959	99731959	Human		name
155914856	CV2242855	single nucleotide variant	NM_078470.6(COX15):c.91-3T>C	Inborn genetic diseases [RCV002772129]	uncertain significance	10	99729737	99729737	Human	1	name
402504557	CV3007125	single nucleotide variant	NM_078470.6(COX15):c.90+1G>C	not provided [RCV003688722]	likely pathogenic	10	99731959	99731959	Human		name
11599126	CV311965	single nucleotide variant	NM_004376.6(COX15):c.-133T>C	Leigh syndrome [RCV000263213]	uncertain significance	10	99732182	99732182	Human	1	name
11659537	CV311969	single nucleotide variant	NM_004376.6(COX15):c.-307C>G	Leigh syndrome [RCV000359052]	uncertain significance	10	99732356	99732356	Human	1	name
11599275	CV311972	single nucleotide variant	NM_004376.6(COX15):c.-338C>T	Leigh syndrome [RCV000264245]	uncertain significance	10	99732387	99732387	Human	1	name
11602143	CV311989	single nucleotide variant	NM_004376.6(COX15):c.-435C>T	Leigh syndrome [RCV000288170]\|not provided [RCV001653465]	benign\|likely benign	10	99732484	99732484	Human	1	name
405221508	CV3154785	single nucleotide variant	NM_078470.6(COX15):c.91-1G>C	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV005356552]\|not provided [RCV003847280]	likely pathogenic	10	99729735	99729735	Human	1	name
11654525	CV317642	single nucleotide variant	NM_004376.6(COX15):c.-232C>T	Leigh syndrome [RCV000318410]	uncertain significance	10	99732281	99732281	Human	1	name
11655207	CV317643	single nucleotide variant	NM_004376.6(COX15):c.-398C>A	Mitochondrial complex IV deficiency, nuclear type 1 [RCV000324202]	uncertain significance	10	99732447	99732447	Human	1	name
11610209	CV317644	single nucleotide variant	NM_004376.6(COX15):c.-406C>G	Leigh syndrome [RCV000378719]\|not provided [RCV004692887]	uncertain significance	10	99732455	99732455	Human	1	name
11606247	CV317647	single nucleotide variant	NM_004376.6(COX15):c.-472T>C	Leigh syndrome [RCV000329155]	uncertain significance	10	99732521	99732521	Human	1	name
11610596	CV317652	single nucleotide variant	NM_004376.6(COX15):c.-597A>C	Leigh syndrome [RCV000383808]\|not provided [RCV001612936]	benign\|likely benign	10	99732646	99732646	Human	1	name
11608298	CV323613	single nucleotide variant	NM_004376.6(COX15):c.-114A>G	Leigh syndrome [RCV000353428]	uncertain significance	10	99732163	99732163	Human	1	name
11650585	CV323614	single nucleotide variant	NM_004376.6(COX15):c.-602C>A	Leigh syndrome [RCV000293898]	uncertain significance	10	99732651	99732651	Human	1	name
597971804	CV3833175	single nucleotide variant	NM_078470.6(COX15):c.90+4C>G	not provided [RCV005167072]	uncertain significance	10	99731956	99731956	Human		name
13539188	CV502990	single nucleotide variant	NM_078470.6(COX15):c.90+8A>T	not provided [RCV003660816]\|not specified [RCV000612928]	likely benign	10	99731952	99731952	Human		name
14745649	CV664772	single nucleotide variant	NM_078470.6(COX15):c.*809G>A	not provided [RCV000843596]	benign	10	99713778	99713778	Human		name
28904540	CV866734	single nucleotide variant	NM_004376.6(COX15):c.-142A>C	Leigh syndrome [RCV001105627]	uncertain significance	10	99732191	99732191	Human	1	name
28904545	CV866735	single nucleotide variant	NM_004376.6(COX15):c.-149G>T	Leigh syndrome [RCV001105628]	uncertain significance	10	99732198	99732198	Human	1	name
28906625	CV866736	single nucleotide variant	NM_004376.6(COX15):c.-250G>C	Leigh syndrome [RCV001106764]	uncertain significance	10	99732299	99732299	Human	1	name
28906627	CV866737	single nucleotide variant	NM_004376.6(COX15):c.-265T>G	Leigh syndrome [RCV001106765]	uncertain significance	10	99732314	99732314	Human	1	name
28907745	CV866738	single nucleotide variant	NM_004376.6(COX15):c.-586C>T	Leigh syndrome [RCV001107398]	uncertain significance	10	99732635	99732635	Human	1	name
28907748	CV866739	single nucleotide variant	NM_004376.6(COX15):c.-590G>A	Leigh syndrome [RCV001107399]	uncertain significance	10	99732639	99732639	Human	1	name
8659365	CV134284	single nucleotide variant	NM_078470.6(COX15):c.*1126T>C	Leigh syndrome [RCV000259999]\|not provided [RCV000676871]\|not specified [RCV000116814]	benign\|likely benign\|conflicting interpretations of pathogenicity	10	99713461	99713461	Human	1	name
8690763	CV140715	single nucleotide variant	NM_078470.6(COX15):c.90+16G>A	not provided [RCV002055514]\|not specified [RCV000124577]	benign	10	99731944	99731944	Human		name
8690764	CV140716	single nucleotide variant	NM_078470.6(COX15):c.988-8C>A	Leigh syndrome [RCV001106672]\|not provided [RCV000426006]\|not specified [RCV000124578]	benign\|likely benign\|uncertain significance	10	99716469	99716469	Human	1	name
151754944	CV1498833	single nucleotide variant	NM_078470.6(COX15):c.*1156G>A	not provided [RCV002023759]	uncertain significance	10	99713431	99713431	Human		name
152027537	CV1520862	single nucleotide variant	NM_078470.6(COX15):c.90+20T>C	not provided [RCV002085163]	likely benign	10	99731940	99731940	Human		name
152103186	CV1524025	single nucleotide variant	NM_078470.6(COX15):c.*1093A>G	not provided [RCV002133525]	likely benign	10	99713494	99713494	Human		name
152036019	CV1604364	single nucleotide variant	NM_078470.6(COX15):c.*1096G>A	not provided [RCV002087216]	likely benign	10	99713491	99713491	Human		name
156413613	CV1901012	single nucleotide variant	NM_078470.6(COX15):c.582+5G>T	not provided [RCV002588216]	uncertain significance	10	99726963	99726963	Human		name
156295687	CV1904659	single nucleotide variant	NM_078470.6(COX15):c.*1166A>G	not provided [RCV002598937]	uncertain significance	10	99713421	99713421	Human		name
156251035	CV1967214	single nucleotide variant	NM_078470.6(COX15):c.*1096G>T	not provided [RCV002597470]	uncertain significance	10	99713491	99713491	Human		name
156220312	CV1981260	single nucleotide variant	NM_078470.6(COX15):c.90+13A>G	not provided [RCV002626421]	likely benign	10	99731947	99731947	Human		name
156335155	CV1988207	single nucleotide variant	NM_078470.6(COX15):c.832+3A>G	not provided [RCV002631145]	uncertain significance	10	99720984	99720984	Human		name
156083888	CV2023719	single nucleotide variant	NM_078470.6(COX15):c.*1166A>T	not provided [RCV002760715]	uncertain significance	10	99713421	99713421	Human		name
156318396	CV2025147	single nucleotide variant	NM_078470.6(COX15):c.987+7G>A	not provided [RCV002716935]	likely benign	10	99718339	99718339	Human		name
156067129	CV2054528	single nucleotide variant	NM_078470.6(COX15):c.750+1G>T	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV005027974]\|not provided [RCV002797287]	likely pathogenic	10	99723955	99723955	Human	1	name
156324129	CV2072200	single nucleotide variant	NM_078470.6(COX15):c.90+15C>T	not provided [RCV002834900]	likely benign	10	99731945	99731945	Human		name
156268507	CV2135156	deletion	NM_078470.6(COX15):c.395+9del	not provided [RCV002988734]	benign	10	99727432	99727432	Human		name
156325997	CV2159936	single nucleotide variant	NM_078470.6(COX15):c.91-18G>A	not provided [RCV003029492]	likely benign	10	99729752	99729752	Human		name
156232199	CV2227662	single nucleotide variant	NM_078470.6(COX15):c.750+1G>A	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV003992722]\|Inborn genetic diseases [RCV002712832]	likely pathogenic	10	99723955	99723955	Human	2	name
156448885	CV2402305	single nucleotide variant	NM_078470.6(COX15):c.272+2T>G	not provided [RCV003120464]	pathogenic\|likely pathogenic	10	99729551	99729551	Human		name
11577741	CV264384	single nucleotide variant	NM_078470.6(COX15):c.396-3C>G	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV000006553]\|Leigh syndrome [RCV002469094]\|not provided [RCV000266470]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	10	99727157	99727157	Human	2	name
402495441	CV2875160	single nucleotide variant	NM_078470.6(COX15):c.751-8A>G	not provided [RCV003545351]	likely benign	10	99721076	99721076	Human		name
405113328	CV2900739	single nucleotide variant	NM_078470.6(COX15):c.90+11G>A	not provided [RCV003558186]	likely benign	10	99731949	99731949	Human		name
405186826	CV2921460	single nucleotide variant	NM_078470.6(COX15):c.*1099A>G	not provided [RCV003564511]	likely benign	10	99713488	99713488	Human		name
405072072	CV2941109	duplication	NM_078470.6(COX15):c.*1092dup	not provided [RCV003664039]	likely benign	10	99713494	99713495	Human		name
402513559	CV2942998	single nucleotide variant	NM_078470.6(COX15):c.90+16G>T	not provided [RCV003662761]	likely benign	10	99731944	99731944	Human		name
405124169	CV2954297	single nucleotide variant	NM_078470.6(COX15):c.*1131T>C	not provided [RCV003667693]	likely benign	10	99713456	99713456	Human		name
405213870	CV2971385	single nucleotide variant	NM_078470.6(COX15):c.987+1G>A	not provided [RCV003679761]	likely pathogenic	10	99718345	99718345	Human		name
405214312	CV2985062	single nucleotide variant	NM_078470.6(COX15):c.*1167C>T	not provided [RCV003709037]	likely benign	10	99713420	99713420	Human		name
404991768	CV2999379	single nucleotide variant	NM_078470.6(COX15):c.987+1G>T	not provided [RCV003692347]	likely pathogenic	10	99718345	99718345	Human		name
402485595	CV3033841	single nucleotide variant	NM_078470.6(COX15):c.396-7C>T	not provided [RCV003713261]	likely benign	10	99727161	99727161	Human		name
405243752	CV3053908	single nucleotide variant	NM_078470.6(COX15):c.583-2A>G	not provided [RCV003719809]	likely pathogenic	10	99724125	99724125	Human		name
11663703	CV311918	single nucleotide variant	NM_004376.5(COX15):c.*4441G>C	Leigh syndrome [RCV000398596]	uncertain significance	10	99708973	99708973	Human	1	name
11599598	CV311919	single nucleotide variant	NM_004376.5(COX15):c.*4110T>G	Leigh syndrome [RCV000267088]	uncertain significance	10	99709304	99709304	Human	1	name
11611000	CV311921	single nucleotide variant	NM_004376.5(COX15):c.*3268A>C	Leigh syndrome [RCV000389345]	benign\|likely benign	10	99710146	99710146	Human	1	name
11652344	CV311922	single nucleotide variant	NM_078470.6(COX15):c.*3670G>A	Leigh syndrome [RCV000304295]	uncertain significance	10	99710917	99710917	Human	1	name
11603810	CV311927	single nucleotide variant	NM_078470.6(COX15):c.*3417T>C	Leigh syndrome [RCV000303474]	benign\|likely benign	10	99711170	99711170	Human	1	name
11605939	CV311928	single nucleotide variant	NM_078470.6(COX15):c.*2857A>G	Leigh syndrome [RCV000325749]	uncertain significance	10	99711730	99711730	Human	1	name
11610485	CV311937	deletion	NM_078470.6(COX15):c.*2755del	Mitochondrial complex IV deficiency, nuclear type 1 [RCV000382425]	uncertain significance	10	99711832	99711832	Human	1	name
11647429	CV311938	single nucleotide variant	NM_078470.6(COX15):c.*2701A>G	Leigh syndrome [RCV000276513]	uncertain significance	10	99711886	99711886	Human	1	name
11650639	CV311939	single nucleotide variant	NM_078470.6(COX15):c.*2490T>C	Leigh syndrome [RCV000294256]	uncertain significance	10	99712097	99712097	Human	1	name
11656917	CV311947	single nucleotide variant	NM_078470.6(COX15):c.*2459G>T	Leigh syndrome [RCV000337594]	uncertain significance	10	99712128	99712128	Human	1	name
11610001	CV311948	single nucleotide variant	NM_078470.6(COX15):c.*2282G>A	Leigh syndrome [RCV000375739]	uncertain significance	10	99712305	99712305	Human	1	name
11609297	CV311951	single nucleotide variant	NM_078470.6(COX15):c.*1693G>A	Leigh syndrome [RCV000366663]	likely benign\|uncertain significance	10	99712894	99712894	Human	1	name
11608402	CV311952	single nucleotide variant	NM_078470.6(COX15):c.*1197T>C	Leigh syndrome [RCV000354834]\|not provided [RCV001582923]	likely benign\|uncertain significance	10	99713390	99713390	Human	1	name
11605438	CV311953	single nucleotide variant	NM_078470.6(COX15):c.*1122C>G	Leigh syndrome [RCV000319874]\|not provided [RCV002520521]	uncertain significance	10	99713465	99713465	Human	1	name
405141080	CV3125867	single nucleotide variant	NM_078470.6(COX15):c.91-14A>G	not provided [RCV003816782]	likely benign	10	99729748	99729748	Human		name
405093360	CV3134637	single nucleotide variant	NM_078470.6(COX15):c.273-5C>T	not provided [RCV003834983]	likely benign	10	99727568	99727568	Human		name
405153289	CV3135107	single nucleotide variant	NM_078470.6(COX15):c.90+19C>T	not provided [RCV003840219]	likely benign	10	99731941	99731941	Human		name
405232741	CV3144936	single nucleotide variant	NM_078470.6(COX15):c.832+7C>G	not provided [RCV003853193]	likely benign	10	99720980	99720980	Human		name
405230212	CV3153840	single nucleotide variant	NM_078470.6(COX15):c.988-2A>T	not provided [RCV003848707]	likely pathogenic	10	99716463	99716463	Human		name
405085370	CV3167295	single nucleotide variant	NM_078470.6(COX15):c.*1104A>G	not provided [RCV003851876]	likely benign	10	99713483	99713483	Human		name
11604772	CV317580	single nucleotide variant	NM_004376.5(COX15):c.*4439G>A	Mitochondrial complex IV deficiency, nuclear type 1 [RCV000312805]	uncertain significance	10	99708975	99708975	Human	1	name
11608517	CV317587	single nucleotide variant	NM_004376.5(COX15):c.*4435A>G	Leigh syndrome [RCV000356005]	uncertain significance	10	99708979	99708979	Human	1	name
11661544	CV317598	single nucleotide variant	NM_004376.5(COX15):c.*3755G>A	Leigh syndrome [RCV000377611]	uncertain significance	10	99709659	99709659	Human	1	name
11606217	CV317601	single nucleotide variant	NM_004376.5(COX15):c.*3661T>C	Leigh syndrome [RCV000328704]	likely benign	10	99709753	99709753	Human	1	name
11610378	CV317603	single nucleotide variant	NM_004376.5(COX15):c.*3647A>T	Mitochondrial complex IV deficiency, nuclear type 1 [RCV000381009]	uncertain significance	10	99709767	99709767	Human	1	name
11650379	CV317610	single nucleotide variant	NM_004376.5(COX15):c.*3210C>T	Leigh syndrome [RCV000292710]	uncertain significance	10	99710204	99710204	Human	1	name
11608891	CV317617	duplication	NM_078470.6(COX15):c.*3485dup	Mitochondrial complex IV deficiency, nuclear type 1 [RCV000361237]	benign	10	99711101	99711102	Human	1	name
11610749	CV317618	single nucleotide variant	NM_078470.6(COX15):c.*2649G>A	Leigh syndrome [RCV000386007]\|not provided [RCV004718185]	benign\|likely benign	10	99711938	99711938	Human	1	name
11601054	CV317619	single nucleotide variant	NM_078470.6(COX15):c.*2193A>T	Leigh syndrome [RCV000278990]	uncertain significance	10	99712394	99712394	Human	1	name
11611359	CV317626	single nucleotide variant	NM_078470.6(COX15):c.*1851G>T	Leigh syndrome [RCV000394010]	uncertain significance	10	99712736	99712736	Human	1	name
11604239	CV317628	single nucleotide variant	NM_078470.6(COX15):c.*1716G>A	Leigh syndrome [RCV000307331]	uncertain significance	10	99712871	99712871	Human	1	name
11646636	CV317629	single nucleotide variant	NM_078470.6(COX15):c.*1594C>G	Leigh syndrome [RCV000272094]	uncertain significance	10	99712993	99712993	Human	1	name
405654836	CV3228351	single nucleotide variant	NM_078470.6(COX15):c.*1120T>C	not specified [RCV003995086]	uncertain significance	10	99713467	99713467	Human		name
11599209	CV323562	single nucleotide variant	NM_004376.5(COX15):c.*4392G>A	Leigh syndrome [RCV000263601]	uncertain significance	10	99709022	99709022	Human	1	name
11605134	CV323567	single nucleotide variant	NM_004376.5(COX15):c.*4218C>T	Leigh syndrome [RCV000316200]	likely benign\|uncertain significance	10	99709196	99709196	Human	1	name
11602200	CV323571	single nucleotide variant	NM_004376.5(COX15):c.*3566C>T	Leigh syndrome [RCV000289074]	benign	10	99709848	99709848	Human	1	name
11607977	CV323572	single nucleotide variant	NM_004376.5(COX15):c.*3086G>T	Leigh syndrome [RCV000349429]	uncertain significance	10	99710328	99710328	Human	1	name
11611568	CV323573	single nucleotide variant	NM_004376.5(COX15):c.*2842T>C	Leigh syndrome [RCV000397123]	uncertain significance	10	99710572	99710572	Human	1	name
11651795	CV323575	single nucleotide variant	NM_004376.5(COX15):c.*2841G>A	Leigh syndrome [RCV000300873]	uncertain significance	10	99710573	99710573	Human	1	name
11611125	CV323590	single nucleotide variant	NM_004376.5(COX15):c.*2640T>G	Leigh syndrome [RCV000390482]	likely benign\|uncertain significance	10	99710774	99710774	Human	1	name
11656795	CV323592	single nucleotide variant	NM_078470.6(COX15):c.*2060C>T	Leigh syndrome [RCV000336530]	uncertain significance	10	99712527	99712527	Human	1	name
11607142	CV323595	single nucleotide variant	NM_078470.6(COX15):c.*1793G>A	Leigh syndrome [RCV000340075]	uncertain significance	10	99712794	99712794	Human	1	name
11611358	CV323597	single nucleotide variant	NM_078470.6(COX15):c.*1776T>A	Leigh syndrome [RCV000394009]	uncertain significance	10	99712811	99712811	Human	1	name
11606541	CV323598	single nucleotide variant	NM_078470.6(COX15):c.*1309T>C	Leigh syndrome [RCV000332883]	uncertain significance	10	99713278	99713278	Human	1	name
11623321	CV324270	single nucleotide variant	NM_004376.5(COX15):c.*4473T>C	Leigh syndrome [RCV000371158]	likely benign\|uncertain significance	10	99708941	99708941	Human	1	name
11659066	CV324271	single nucleotide variant	NM_004376.5(COX15):c.*4152C>T	Leigh syndrome [RCV000354673]	uncertain significance	10	99709262	99709262	Human	1	name
11619402	CV324272	single nucleotide variant	NM_004376.5(COX15):c.*3817A>G	Leigh syndrome [RCV000324540]	uncertain significance	10	99709597	99709597	Human	1	name
11646520	CV324276	single nucleotide variant	NM_004376.5(COX15):c.*3729C>G	Leigh syndrome [RCV000271422]	uncertain significance	10	99709685	99709685	Human	1	name
11621642	CV324277	single nucleotide variant	NM_004376.5(COX15):c.*3330A>G	Leigh syndrome [RCV000350997]	uncertain significance	10	99710084	99710084	Human	1	name
11620269	CV324281	single nucleotide variant	NM_004376.5(COX15):c.*2742A>G	Leigh syndrome [RCV000334736]	uncertain significance	10	99710672	99710672	Human	1	name
11622824	CV324288	single nucleotide variant	NM_078470.6(COX15):c.*3247T>C	Leigh syndrome [RCV000365134]	uncertain significance	10	99711340	99711340	Human	1	name
11646817	CV324289	single nucleotide variant	NM_078470.6(COX15):c.*2898A>G	Leigh syndrome [RCV000273011]	uncertain significance	10	99711689	99711689	Human	1	name
11656465	CV324293	single nucleotide variant	NM_078470.6(COX15):c.*2668C>G	Leigh syndrome [RCV000333899]	uncertain significance	10	99711919	99711919	Human	1	name
11617595	CV324296	single nucleotide variant	NM_078470.6(COX15):c.*1850G>T	Leigh syndrome [RCV000306176]	uncertain significance	10	99712737	99712737	Human	1	name
11653748	CV324306	single nucleotide variant	NM_078470.6(COX15):c.*1474C>T	Leigh syndrome [RCV000313072]	uncertain significance	10	99713113	99713113	Human	1	name
11647675	CV324307	single nucleotide variant	NM_078470.6(COX15):c.*1361C>T	Leigh syndrome [RCV000277894]	uncertain significance	10	99713226	99713226	Human	1	name
11615348	CV324314	single nucleotide variant	NM_078470.6(COX15):c.988-3C>T	Leigh syndrome [RCV000284765]	uncertain significance	10	99716464	99716464	Human	1	name
596944435	CV3543394	single nucleotide variant	NM_078470.6(COX15):c.*1133T>A	not provided [RCV004801515]	uncertain significance	10	99713454	99713454	Human		name
597640419	CV3724348	single nucleotide variant	NM_078470.6(COX15):c.751-2A>T	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV005024960]	likely pathogenic	10	99721070	99721070	Human	1	name
597919093	CV3764937	single nucleotide variant	NM_078470.6(COX15):c.987+1G>C	not provided [RCV005114952]	likely pathogenic	10	99718345	99718345	Human		name
597927053	CV3772707	single nucleotide variant	NM_078470.6(COX15):c.*1093A>C	not provided [RCV005115857]	likely benign	10	99713494	99713494	Human		name
597909070	CV3773633	single nucleotide variant	NM_078470.6(COX15):c.583-9G>C	not provided [RCV005113504]	likely benign	10	99724132	99724132	Human		name
597867990	CV3802757	single nucleotide variant	NM_078470.6(COX15):c.*1094T>C	not provided [RCV005147544]	likely benign	10	99713493	99713493	Human		name
597963254	CV3819569	single nucleotide variant	NM_078470.6(COX15):c.833-8G>A	not provided [RCV005164285]	likely benign	10	99718508	99718508	Human		name
13541813	CV503322	single nucleotide variant	NM_078470.6(COX15):c.750+8T>C	not provided [RCV002064025]\|not specified [RCV000616676]	likely benign	10	99723948	99723948	Human		name
14726482	CV664777	single nucleotide variant	NM_078470.6(COX15):c.90+27C>A	not provided [RCV000833887]	likely benign	10	99731933	99731933	Human		name
14743917	CV665635	single nucleotide variant	NM_078470.6(COX15):c.987+3A>G	not provided [RCV000842397]	likely benign	10	99718343	99718343	Human		name
28906289	CV866716	single nucleotide variant	NM_078470.6(COX15):c.*2620C>T	Leigh syndrome [RCV001106561]	uncertain significance	10	99711967	99711967	Human	1	name
28906293	CV866717	single nucleotide variant	NM_078470.6(COX15):c.*2595C>T	Leigh syndrome [RCV001106562]	uncertain significance	10	99711992	99711992	Human	1	name
28906297	CV866718	single nucleotide variant	NM_078470.6(COX15):c.*2594T>G	Leigh syndrome [RCV001106563]	uncertain significance	10	99711993	99711993	Human	1	name
28909935	CV866719	single nucleotide variant	NM_078470.6(COX15):c.*2301G>C	Leigh syndrome [RCV001108736]	uncertain significance	10	99712286	99712286	Human	1	name
28909938	CV866720	single nucleotide variant	NM_078470.6(COX15):c.*2301G>A	Leigh syndrome [RCV001108737]	uncertain significance	10	99712286	99712286	Human	1	name
28909940	CV866721	single nucleotide variant	NM_078470.6(COX15):c.*2167A>G	Leigh syndrome [RCV001108738]	uncertain significance	10	99712420	99712420	Human	1	name
28909942	CV866722	single nucleotide variant	NM_078470.6(COX15):c.*1957A>C	Leigh syndrome [RCV001108739]	uncertain significance	10	99712630	99712630	Human	1	name
28899924	CV866723	single nucleotide variant	NM_078470.6(COX15):c.*1876A>G	Leigh syndrome [RCV001103578]	likely benign	10	99712711	99712711	Human	1	name
28904288	CV866724	single nucleotide variant	NM_078470.6(COX15):c.*1591C>T	Leigh syndrome [RCV001105513]	uncertain significance	10	99712996	99712996	Human	1	name
28904290	CV866725	single nucleotide variant	NM_078470.6(COX15):c.*1590A>C	Leigh syndrome [RCV001105514]	uncertain significance	10	99712997	99712997	Human	1	name
28904294	CV866726	single nucleotide variant	NM_078470.6(COX15):c.*1362G>A	Leigh syndrome [RCV001105515]	uncertain significance	10	99713225	99713225	Human	1	name
28904299	CV866727	single nucleotide variant	NM_078470.6(COX15):c.*1349A>C	Leigh syndrome [RCV001105516]	uncertain significance	10	99713238	99713238	Human	1	name
28904306	CV866728	single nucleotide variant	NM_078470.6(COX15):c.*1242A>G	Leigh syndrome [RCV001105517]	uncertain significance	10	99713345	99713345	Human	1	name
28903851	CV868550	single nucleotide variant	NM_004376.5(COX15):c.*4212G>A	Leigh syndrome [RCV001105330]	uncertain significance	10	99709202	99709202	Human	1	name
28903855	CV868551	single nucleotide variant	NM_004376.5(COX15):c.*4181C>A	Leigh syndrome [RCV001105331]	uncertain significance	10	99709233	99709233	Human	1	name
28906120	CV868553	single nucleotide variant	NM_004376.5(COX15):c.*3800C>A	Leigh syndrome [RCV001106459]	uncertain significance	10	99709614	99709614	Human	1	name
28906122	CV868554	single nucleotide variant	NM_004376.5(COX15):c.*3652A>G	Leigh syndrome [RCV001106460]	uncertain significance	10	99709762	99709762	Human	1	name
28906124	CV868555	single nucleotide variant	NM_004376.5(COX15):c.*3618A>G	Leigh syndrome [RCV001106461]	uncertain significance	10	99709796	99709796	Human	1	name
28909820	CV868556	single nucleotide variant	NM_004376.5(COX15):c.*3564C>T	Leigh syndrome [RCV001108654]	uncertain significance	10	99709850	99709850	Human	1	name
28909823	CV868557	single nucleotide variant	NM_004376.5(COX15):c.*3470G>C	Leigh syndrome [RCV001108655]	uncertain significance	10	99709944	99709944	Human	1	name
28909825	CV868558	single nucleotide variant	NM_004376.5(COX15):c.*3411G>C	Leigh syndrome [RCV001108656]	uncertain significance	10	99710003	99710003	Human	1	name
28909828	CV868559	single nucleotide variant	NM_004376.5(COX15):c.*3211G>A	Leigh syndrome [RCV001108657]	uncertain significance	10	99710203	99710203	Human	1	name
28899741	CV868560	single nucleotide variant	NM_004376.5(COX15):c.*2701C>T	Leigh syndrome [RCV001103499]	uncertain significance	10	99710713	99710713	Human	1	name
28899747	CV868561	single nucleotide variant	NM_078470.6(COX15):c.*3638C>T	Leigh syndrome [RCV001103500]	uncertain significance	10	99710949	99710949	Human	1	name
28904061	CV868562	single nucleotide variant	NM_078470.6(COX15):c.*3362T>C	Leigh syndrome [RCV001105413]	uncertain significance	10	99711225	99711225	Human	1	name
28904064	CV868563	single nucleotide variant	NM_078470.6(COX15):c.*2959G>C	Leigh syndrome [RCV001105414]	uncertain significance	10	99711628	99711628	Human	1	name
28904068	CV868564	single nucleotide variant	NM_078470.6(COX15):c.*2850A>G	Leigh syndrome [RCV001105415]	uncertain significance	10	99711737	99711737	Human	1	name
28904071	CV868565	single nucleotide variant	NM_078470.6(COX15):c.*2839G>T	Leigh syndrome [RCV001105416]	uncertain significance	10	99711748	99711748	Human	1	name
28906284	CV868566	single nucleotide variant	NM_078470.6(COX15):c.*2745T>G	Leigh syndrome [RCV001106560]	uncertain significance	10	99711842	99711842	Human	1	name
28910032	CV868567	single nucleotide variant	NM_078470.6(COX15):c.832+9C>T	Leigh syndrome [RCV001108826]\|not provided [RCV003769111]	likely benign\|uncertain significance	10	99720978	99720978	Human	1	name
150411432	CV1191125	duplication	NM_078470.6(COX15):c.583-78dup	not provided [RCV001566573]	likely benign	10	99724194	99724195	Human		name
150407240	CV1191126	single nucleotide variant	NM_078470.6(COX15):c.90+159C>T	not provided [RCV001564959]	likely benign	10	99731801	99731801	Human		name
150415206	CV1198107	single nucleotide variant	NM_078470.6(COX15):c.750+96G>C	not provided [RCV001575294]	likely benign	10	99723860	99723860	Human		name
150431291	CV1206300	duplication	NM_078470.6(COX15):c.272+74dup	not provided [RCV001580949]	likely benign	10	99729459	99729460	Human		name
150467009	CV1218286	single nucleotide variant	NM_078470.6(COX15):c.91-249A>T	not provided [RCV001614412]	benign	10	99729983	99729983	Human		name
150490683	CV1251069	deletion	NM_078470.6(COX15):c.272+93del	not provided [RCV001674736]	benign	10	99729460	99729460	Human		name
150501157	CV1284142	duplication	NM_078470.6(COX15):c.582+62dup	not provided [RCV001718544]	benign	10	99726887	99726888	Human		name
151751826	CV1385501	single nucleotide variant	NM_078470.6(COX15):c.833-10T>G	not provided [RCV001969261]	uncertain significance	10	99718510	99718510	Human		name
152083493	CV1526371	single nucleotide variant	NM_078470.6(COX15):c.273-12T>C	not provided [RCV002170853]	likely benign	10	99727575	99727575	Human		name
152067817	CV1547514	single nucleotide variant	NM_078470.6(COX15):c.832+19A>G	not provided [RCV002074688]	likely benign	10	99720968	99720968	Human		name
152082035	CV1548373	single nucleotide variant	NM_078470.6(COX15):c.832+14C>T	not provided [RCV002076498]	likely benign	10	99720973	99720973	Human		name
152151516	CV1578251	single nucleotide variant	NM_078470.6(COX15):c.750+17A>G	not provided [RCV002158268]	likely benign	10	99723939	99723939	Human		name
152161739	CV1584573	single nucleotide variant	NM_078470.6(COX15):c.272+16G>A	not provided [RCV002123324]	likely benign	10	99729537	99729537	Human		name
152138258	CV1603886	single nucleotide variant	NM_078470.6(COX15):c.833-11T>G	not provided [RCV002219021]	likely benign	10	99718511	99718511	Human		name
152134408	CV1646700	single nucleotide variant	NM_078470.6(COX15):c.833-18A>G	not provided [RCV002137349]	likely benign	10	99718518	99718518	Human		name
152170531	CV1651150	single nucleotide variant	NM_078470.6(COX15):c.396-11A>G	not provided [RCV002143146]	likely benign	10	99727165	99727165	Human		name
155980207	CV1972377	single nucleotide variant	NM_078470.6(COX15):c.832+12C>T	not provided [RCV002617565]	likely benign	10	99720975	99720975	Human		name
156350662	CV1978323	single nucleotide variant	NM_078470.6(COX15):c.272+13C>T	not provided [RCV002601800]	likely benign	10	99729540	99729540	Human		name
156267165	CV2011285	single nucleotide variant	NM_078470.6(COX15):c.987+17G>A	not provided [RCV002714856]	likely benign	10	99718329	99718329	Human		name
156016755	CV2044115	single nucleotide variant	NM_078470.6(COX15):c.395+19T>G	not provided [RCV002795385]	likely benign	10	99727422	99727422	Human		name
156154033	CV2066824	single nucleotide variant	NM_078470.6(COX15):c.395+11G>A	not provided [RCV002850967]	likely benign	10	99727430	99727430	Human		name
155948633	CV2068989	single nucleotide variant	NM_078470.6(COX15):c.272+15C>T	not provided [RCV002862221]	likely benign	10	99729538	99729538	Human		name
156224743	CV2121750	single nucleotide variant	NM_078470.6(COX15):c.832+19A>T	not provided [RCV002958282]	likely benign	10	99720968	99720968	Human		name
156369011	CV2160394	single nucleotide variant	NM_078470.6(COX15):c.582+20G>A	not provided [RCV003032082]	likely benign	10	99726948	99726948	Human		name
156341271	CV2174897	single nucleotide variant	NM_078470.6(COX15):c.583-13T>C	not provided [RCV003047750]	likely benign	10	99724136	99724136	Human		name
405196069	CV2868866	single nucleotide variant	NM_078470.6(COX15):c.395+16A>T	not provided [RCV003550844]	likely benign	10	99727425	99727425	Human		name
405167674	CV2900994	single nucleotide variant	NM_078470.6(COX15):c.272+20T>G	not provided [RCV003562871]	likely benign	10	99729533	99729533	Human		name
405124374	CV2939229	single nucleotide variant	NM_078470.6(COX15):c.582+16G>A	not provided [RCV003671808]	likely benign	10	99726952	99726952	Human		name
405096080	CV2944095	single nucleotide variant	NM_078470.6(COX15):c.988-10T>G	not provided [RCV003665657]	likely benign	10	99716471	99716471	Human		name
405155194	CV2950665	single nucleotide variant	NM_078470.6(COX15):c.583-11G>C	not provided [RCV003670233]	likely benign	10	99724134	99724134	Human		name
405129632	CV2953564	single nucleotide variant	NM_078470.6(COX15):c.988-18A>T	not provided [RCV003672293]	likely benign	10	99716479	99716479	Human		name
405129874	CV2962301	single nucleotide variant	NM_078470.6(COX15):c.582+11T>C	not provided [RCV003668282]	likely benign	10	99726957	99726957	Human		name
405244711	CV2968361	single nucleotide variant	NM_078470.6(COX15):c.988-14T>C	not provided [RCV003684927]	likely benign	10	99716475	99716475	Human		name
405192626	CV2974956	single nucleotide variant	NM_078470.6(COX15):c.832+17C>G	not provided [RCV003677348]	likely benign	10	99720970	99720970	Human		name
405203052	CV2989205	single nucleotide variant	NM_078470.6(COX15):c.987+18T>C	not provided [RCV003678322]	likely benign	10	99718328	99718328	Human		name
405009013	CV2990040	single nucleotide variant	NM_078470.6(COX15):c.987+14G>T	not provided [RCV003693821]	likely benign	10	99718332	99718332	Human		name
402521754	CV3002389	single nucleotide variant	NM_078470.6(COX15):c.987+14G>A	not provided [RCV003690170]	likely benign	10	99718332	99718332	Human		name
405030072	CV3012591	single nucleotide variant	NM_078470.6(COX15):c.832+15A>G	not provided [RCV003695500]	likely benign	10	99720972	99720972	Human		name
405055786	CV3023296	single nucleotide variant	NM_078470.6(COX15):c.988-12T>G	not provided [RCV003697329]	likely benign	10	99716473	99716473	Human		name
405131193	CV3115079	single nucleotide variant	NM_078470.6(COX15):c.832+13T>C	not provided [RCV003815924]	likely benign	10	99720974	99720974	Human		name
405060855	CV3129532	single nucleotide variant	NM_078470.6(COX15):c.750+12G>A	not provided [RCV003832801]	likely benign	10	99723944	99723944	Human		name
405063414	CV3129637	single nucleotide variant	NM_078470.6(COX15):c.582+19T>G	not provided [RCV003832906]	likely benign	10	99726949	99726949	Human		name
405224261	CV3145952	single nucleotide variant	NM_078470.6(COX15):c.273-20A>C	not provided [RCV003847666]	likely benign	10	99727583	99727583	Human		name
405228736	CV3153383	deletion	NM_078470.6(COX15):c.751-18del	not provided [RCV003848447]	likely benign	10	99721086	99721086	Human		name
405181202	CV3159490	single nucleotide variant	NM_078470.6(COX15):c.751-19G>A	not provided [RCV003858740]	likely benign	10	99721087	99721087	Human		name
405245479	CV3161840	single nucleotide variant	NM_078470.6(COX15):c.395+17A>G	not provided [RCV003868553]	likely benign	10	99727424	99727424	Human		name
405245575	CV3161872	single nucleotide variant	NM_078470.6(COX15):c.396-20T>G	not provided [RCV003868585]	likely benign	10	99727174	99727174	Human		name
405158458	CV3163515	single nucleotide variant	NM_078470.6(COX15):c.273-15C>A	not provided [RCV003856761]	likely benign	10	99727578	99727578	Human		name
11601861	CV323605	single nucleotide variant	NM_078470.6(COX15):c.582+14A>G	Leigh syndrome [RCV000285899]\|not provided [RCV001523675]\|not specified [RCV000443501]	benign\|uncertain significance	10	99726954	99726954	Human	1	name
12841920	CV371916	single nucleotide variant	NM_078470.6(COX15):c.582+15A>G	not specified [RCV000433444]	likely benign	10	99726953	99726953	Human		name
597935254	CV3807175	single nucleotide variant	NM_078470.6(COX15):c.833-12C>T	not provided [RCV005157746]	likely benign	10	99718512	99718512	Human		name
597864692	CV3814262	single nucleotide variant	NM_078470.6(COX15):c.988-16T>C	not provided [RCV005147331]	likely benign	10	99716477	99716477	Human		name
597910326	CV3854194	single nucleotide variant	NM_078470.6(COX15):c.832+18A>G	not provided [RCV005203463]	likely benign	10	99720969	99720969	Human		name
13539497	CV502989	duplication	NM_078470.6(COX15):c.751-17dup	not provided [RCV003767694]\|not specified [RCV000613363]	benign\|likely benign	10	99721077	99721078	Human		name
14730538	CV665374	single nucleotide variant	NM_078470.6(COX15):c.395+97G>A	not provided [RCV000835728]	benign	10	99727344	99727344	Human		name
150425125	CV1184437	single nucleotide variant	NM_078470.6(COX15):c.987+247C>G	not provided [RCV001557595]	likely benign	10	99718099	99718099	Human		name
150414272	CV1198105	single nucleotide variant	NM_078470.6(COX15):c.988-136G>A	not provided [RCV001574884]	likely benign	10	99716597	99716597	Human		name
150416816	CV1198106	single nucleotide variant	NM_078470.6(COX15):c.751-103G>A	not provided [RCV001576040]	likely benign	10	99721171	99721171	Human		name
150444902	CV1261112	single nucleotide variant	NM_078470.6(COX15):c.1102-24A>G	not provided [RCV001679786]	benign	10	99714742	99714742	Human		name
150501163	CV1284143	duplication	NM_078470.6(COX15):c.987+101dup	not provided [RCV001718545]	benign	10	99718243	99718244	Human		name
405239439	CV2886071	single nucleotide variant	NM_078470.6(COX15):c.1101+15T>C	not provided [RCV003557019]	likely benign	10	99716333	99716333	Human		name
405034659	CV3009353	single nucleotide variant	NM_078470.6(COX15):c.1101+13T>G	not provided [RCV003695748]	likely benign	10	99716335	99716335	Human		name
402500338	CV3035286	single nucleotide variant	NM_078470.6(COX15):c.1101+10A>T	not provided [RCV003714671]	likely benign	10	99716338	99716338	Human		name
14726639	CV665372	single nucleotide variant	NM_078470.6(COX15):c.832+194A>C	not provided [RCV000833957]	benign	10	99720793	99720793	Human		name
405087097	CV2862338	deletion	NM_078470.6(COX15):c.207_272+655del	not provided [RCV003549640]	likely pathogenic	10	99728898	99729618	Human		name
402513540	CV2942997	deletion	NM_078470.6(COX15):c.90+19_90+24del	not provided [RCV003662760]	likely benign	10	99731936	99731941	Human		name
11660491	CV317632	deletion	NM_078470.6(COX15):c.1429_1430del	Mitochondrial complex IV deficiency, nuclear type 1 [RCV000367730]	uncertain significance	10	99713157	99713158	Human	1	name
597974380	CV3831606	single nucleotide variant	NM_078470.6(COX15):c.9A>G (p.Arg3=)	not provided [RCV005168545]	likely benign	10	99732041	99732041	Human		name
405207695	CV2909103	single nucleotide variant	NM_078470.6(COX15):c.10T>C (p.Leu4=)	not provided [RCV003566718]	likely benign	10	99732040	99732040	Human		name
405058376	CV3147764	single nucleotide variant	NM_078470.6(COX15):c.15C>T (p.Leu5=)	not provided [RCV003849994]	likely benign	10	99732035	99732035	Human		name
150407149	CV1177367	duplication	NM_078470.6(COX15):c.582+62_582+63dup	not provided [RCV001545504]	likely benign	10	99726887	99726888	Human		name
150505870	CV1213635	deletion	NM_078470.6(COX15):c.272+91_272+93del	not provided [RCV001595891]	benign	10	99729460	99729462	Human		name
150501168	CV1284144	deletion	NM_078470.6(COX15):c.272+90_272+93del	not provided [RCV001718546]	benign	10	99729460	99729463	Human		name
10410590	CV211474	deletion	NM_078470.6(COX15):c.395+20_395+26del	not provided [RCV002054323]\|not specified [RCV000198495]	likely pathogenic\|benign	10	99727415	99727421	Human		name
402510701	CV2862107	single nucleotide variant	NM_078470.6(COX15):c.4C>T (p.Gln2Ter)	not provided [RCV003546954]	pathogenic	10	99732046	99732046	Human		name
402486744	CV2865403	single nucleotide variant	NM_078470.6(COX15):c.33C>G (p.Ala11=)	not provided [RCV003544545]	likely benign	10	99732017	99732017	Human		name
405218604	CV2869870	single nucleotide variant	NM_078470.6(COX15):c.52C>T (p.Leu18=)	not provided [RCV003553547]	likely benign	10	99731998	99731998	Human		name
405240633	CV2889240	single nucleotide variant	NM_078470.6(COX15):c.42G>C (p.Gly14=)	not provided [RCV003557333]	likely benign	10	99732008	99732008	Human		name
402500663	CV2922933	duplication	NM_078470.6(COX15):c.272+14_272+15dup	not provided [RCV003573867]	likely benign	10	99729537	99729538	Human		name
405193030	CV2985695	single nucleotide variant	NM_078470.6(COX15):c.51T>C (p.Tyr17=)	not provided [RCV003706643]	likely benign	10	99731999	99731999	Human		name
404977508	CV3012055	single nucleotide variant	NM_078470.6(COX15):c.34T>C (p.Leu12=)	not provided [RCV003690639]	likely benign	10	99732016	99732016	Human		name
405126205	CV3017326	single nucleotide variant	NM_078470.6(COX15):c.78G>T (p.Ala26=)	not provided [RCV003701261]	likely benign	10	99731972	99731972	Human		name
405174241	CV3123002	single nucleotide variant	NM_078470.6(COX15):c.33C>T (p.Ala11=)	not provided [RCV003819400]	likely benign	10	99732017	99732017	Human		name
405194094	CV3128551	microsatellite	NM_078470.6(COX15):c.988-15_988-14del	not provided [RCV003821288]	likely benign	10	99716475	99716476	Human		name
405226181	CV3142483	single nucleotide variant	NM_078470.6(COX15):c.60C>T (p.Leu20=)	not provided [RCV003848022]	likely benign	10	99731990	99731990	Human		name
405149817	CV3162816	single nucleotide variant	NM_078470.6(COX15):c.30G>A (p.Arg10=)	not provided [RCV003856259]	likely benign	10	99732020	99732020	Human		name
405225058	CV3168882	single nucleotide variant	NM_078470.6(COX15):c.99C>T (p.Cys33=)	not provided [RCV003864097]	likely benign	10	99729726	99729726	Human		name
402473084	CV3172102	single nucleotide variant	NM_078470.6(COX15):c.87A>G (p.Ala29=)	not provided [RCV003874705]	likely benign	10	99731963	99731963	Human		name
405685369	CV3235725	single nucleotide variant	NM_078470.6(COX15):c.5A>G (p.Gln2Arg)	Inborn genetic diseases [RCV004372239]	uncertain significance	10	99732045	99732045	Human	1	name
597931367	CV3780352	single nucleotide variant	NM_078470.6(COX15):c.63G>A (p.Leu21=)	not provided [RCV005116672]	likely benign	10	99731987	99731987	Human		name
28900105	CV866733	single nucleotide variant	NM_078470.6(COX15):c.84A>G (p.Arg28=)	Leigh syndrome [RCV001103674]\|not provided [RCV002555014]	likely benign\|uncertain significance	10	99731966	99731966	Human	1	name
151725675	CV1433319	single nucleotide variant	NM_078470.6(COX15):c.27G>C (p.Leu9Phe)	not provided [RCV001983649]	uncertain significance	10	99732023	99732023	Human		name
155266511	CV1699078	indel	NM_078470.6(COX15):c.79_90+3delinsGACT	Leigh syndrome [RCV002282872]	likely pathogenic	10	99731957	99731971	Human		name
156264703	CV1960806	single nucleotide variant	NM_078470.6(COX15):c.117G>A (p.Arg39=)	not provided [RCV002576964]	likely benign	10	99729708	99729708	Human		name
402492279	CV2863194	single nucleotide variant	NM_078470.6(COX15):c.225C>G (p.Val75=)	not provided [RCV003573135]	likely benign	10	99729600	99729600	Human		name
402475466	CV2863601	single nucleotide variant	NM_078470.6(COX15):c.220C>T (p.Leu74=)	not provided [RCV003543182]	likely benign	10	99729605	99729605	Human		name
402480210	CV2863967	single nucleotide variant	NM_078470.6(COX15):c.186A>G (p.Ser62=)	not provided [RCV003543941]	likely benign	10	99729639	99729639	Human		name
405100541	CV2938268	single nucleotide variant	NM_078470.6(COX15):c.147A>G (p.Val49=)	not provided [RCV003665890]	likely benign	10	99729678	99729678	Human		name
405127918	CV2954826	single nucleotide variant	NM_078470.6(COX15):c.274T>C (p.Leu92=)	not provided [RCV003668106]	likely benign	10	99727562	99727562	Human		name
402494295	CV2978425	single nucleotide variant	NM_078470.6(COX15):c.207G>A (p.Val69=)	not provided [RCV003714088]	likely benign	10	99729618	99729618	Human		name
404993449	CV2995911	single nucleotide variant	NM_078470.6(COX15):c.270T>C (p.Thr90=)	not provided [RCV003692509]	likely benign	10	99729555	99729555	Human		name
402524885	CV3015169	single nucleotide variant	NM_078470.6(COX15):c.156A>G (p.Gln52=)	not provided [RCV003690567]	likely benign	10	99729669	99729669	Human		name
405222858	CV3061124	single nucleotide variant	NM_078470.6(COX15):c.231T>C (p.Ser77=)	not provided [RCV003733577]	likely benign	10	99729594	99729594	Human		name
405090809	CV3134455	single nucleotide variant	NM_078470.6(COX15):c.162A>G (p.Gly54=)	not provided [RCV003834801]	likely benign	10	99729663	99729663	Human		name
405050724	CV3137972	single nucleotide variant	NM_078470.6(COX15):c.189G>A (p.Lys63=)	not provided [RCV003832010]	likely benign	10	99729636	99729636	Human		name
405197470	CV3168158	single nucleotide variant	NM_078470.6(COX15):c.294G>A (p.Ser98=)	not provided [RCV003860290]	likely benign	10	99727542	99727542	Human		name
405224169	CV3168818	single nucleotide variant	NM_078470.6(COX15):c.282G>A (p.Glu94=)	not provided [RCV003864033]	likely benign	10	99727554	99727554	Human		name
404990973	CV3176266	single nucleotide variant	NM_078470.6(COX15):c.159T>C (p.Ser53=)	not provided [RCV003881591]	likely benign	10	99729666	99729666	Human		name
405272756	CV3201371	single nucleotide variant	NM_078470.6(COX15):c.112T>C (p.Leu38=)	COX15-related disorder [RCV003901433]	likely benign	10	99729713	99729713	Human		name , trait , alternate_id
11625236	CV324318	single nucleotide variant	NM_078470.6(COX15):c.255T>C (p.Ile85=)	Leigh syndrome [RCV000396573]\|not provided [RCV001672415]	likely benign\|uncertain significance	10	99729570	99729570	Human	1	name
14689668	CV621323	single nucleotide variant	NM_078470.6(COX15):c.135C>T (p.Thr45=)	not provided [RCV002263972]\|not specified [RCV000780200]	likely benign\|uncertain significance	10	99729690	99729690	Human		name
15116252	CV737685	single nucleotide variant	NM_078470.6(COX15):c.115A>C (p.Arg39=)	not provided [RCV000895167]	likely benign	10	99729710	99729710	Human		name
15157841	CV752370	single nucleotide variant	NM_078470.6(COX15):c.171A>G (p.Thr57=)	not provided [RCV000924945]	likely benign	10	99729654	99729654	Human		name
150457319	CV1202604	deletion	NM_078470.6(COX15):c.988-323_988-318del	not provided [RCV001586257]	likely benign	10	99716779	99716784	Human		name
150433762	CV1217006	single nucleotide variant	NM_078470.6(COX15):c.618A>G (p.Leu206=)	not provided [RCV001608908]	likely benign	10	99724088	99724088	Human		name
150502297	CV1254484	duplication	NM_078470.6(COX15):c.832+138_832+139dup	not provided [RCV001677186]	benign	10	99720847	99720848	Human		name
151721694	CV1419701	single nucleotide variant	NM_078470.6(COX15):c.47A>G (p.Gln16Arg)	not provided [RCV001983181]	uncertain significance	10	99732003	99732003	Human		name
151711667	CV1440288	single nucleotide variant	NM_078470.6(COX15):c.53T>G (p.Leu18Arg)	not provided [RCV001908135]	uncertain significance	10	99731997	99731997	Human		name
151874048	CV1488129	single nucleotide variant	NM_078470.6(COX15):c.36G>C (p.Leu12Phe)	not provided [RCV001981670]	uncertain significance	10	99732014	99732014	Human		name
152086244	CV1599447	single nucleotide variant	NM_078470.6(COX15):c.813G>A (p.Val271=)	not provided [RCV002093524]	likely benign	10	99721006	99721006	Human		name
155947456	CV1872394	single nucleotide variant	NM_078470.6(COX15):c.55C>T (p.Pro19Ser)	Inborn genetic diseases [RCV005323307]\|not provided [RCV003073940]	uncertain significance	10	99731995	99731995	Human	1	name
156044951	CV1887402	single nucleotide variant	NM_078470.6(COX15):c.59T>A (p.Leu20His)	not provided [RCV003078665]	uncertain significance	10	99731991	99731991	Human		name
155968349	CV1888714	single nucleotide variant	NM_078470.6(COX15):c.744G>A (p.Pro248=)	not provided [RCV003075052]	likely benign	10	99723962	99723962	Human		name
156146901	CV1954375	single nucleotide variant	NM_078470.6(COX15):c.744G>T (p.Pro248=)	not provided [RCV002572771]	likely benign	10	99723962	99723962	Human		name
156409471	CV1961809	single nucleotide variant	NM_078470.6(COX15):c.822G>A (p.Thr274=)	not provided [RCV002586828]	likely benign	10	99720997	99720997	Human		name
156318715	CV1965894	single nucleotide variant	NM_078470.6(COX15):c.456C>T (p.His152=)	not provided [RCV002600099]	likely benign	10	99727094	99727094	Human		name
156244961	CV1973381	single nucleotide variant	NM_078470.6(COX15):c.747C>T (p.His249=)	COX15-related disorder [RCV004731278]\|not provided [RCV002597275]	likely benign	10	99723959	99723959	Human	1	name , trait , alternate_id
156390499	CV1991162	single nucleotide variant	NM_078470.6(COX15):c.570C>T (p.Leu190=)	not provided [RCV002634939]	likely benign	10	99726980	99726980	Human		name
155953209	CV2033234	single nucleotide variant	NM_078470.6(COX15):c.486G>T (p.Val162=)	not provided [RCV002730791]	likely benign	10	99727064	99727064	Human		name
155963842	CV2034092	single nucleotide variant	NM_078470.6(COX15):c.531C>T (p.Ser177=)	not provided [RCV002731301]	likely benign	10	99727019	99727019	Human		name
156236430	CV2036606	single nucleotide variant	NM_078470.6(COX15):c.73G>T (p.Ala25Ser)	Inborn genetic diseases [RCV002805516]\|not provided [RCV002805515]	uncertain significance	10	99731977	99731977	Human	1	name
156131945	CV2036607	single nucleotide variant	NM_078470.6(COX15):c.50A>G (p.Tyr17Cys)	Inborn genetic diseases [RCV002786206]\|not provided [RCV002805517]	likely benign\|uncertain significance	10	99732000	99732000	Human	1	name
155935977	CV2074837	single nucleotide variant	NM_078470.6(COX15):c.73G>A (p.Ala25Thr)	not provided [RCV002861439]	uncertain significance	10	99731977	99731977	Human		name
156043352	CV2089761	single nucleotide variant	NM_078470.6(COX15):c.516A>G (p.Arg172=)	not provided [RCV002867530]	likely benign	10	99727034	99727034	Human		name
156091135	CV2106130	single nucleotide variant	NM_078470.6(COX15):c.303T>C (p.Asp101=)	not provided [RCV002952363]	likely benign	10	99727533	99727533	Human		name
10411041	CV211480	single nucleotide variant	NM_078470.6(COX15):c.83G>C (p.Arg28Thr)	Inborn genetic diseases [RCV003243016]\|not provided [RCV001853174]\|not specified [RCV000199425]	likely benign\|uncertain significance	10	99731967	99731967	Human	1	name
156374366	CV2123950	single nucleotide variant	NM_078470.6(COX15):c.474T>G (p.Leu158=)	not provided [RCV002942585]	uncertain significance	10	99727076	99727076	Human		name
156111471	CV2171702	single nucleotide variant	NM_078470.6(COX15):c.897C>G (p.Ser299=)	not provided [RCV003038963]	likely benign	10	99718436	99718436	Human		name
156340860	CV2186862	single nucleotide variant	NM_078470.6(COX15):c.480C>T (p.Gly160=)	not provided [RCV003064223]	uncertain significance	10	99727070	99727070	Human		name
401907681	CV2809535	single nucleotide variant	NM_078470.6(COX15):c.366A>G (p.Gln122=)	not provided [RCV003422796]	likely benign	10	99727470	99727470	Human		name
405041775	CV2862817	single nucleotide variant	NM_078470.6(COX15):c.930C>G (p.Pro310=)	not provided [RCV003579167]	likely benign	10	99718403	99718403	Human		name
405237424	CV2881172	single nucleotide variant	NM_078470.6(COX15):c.852A>G (p.Leu284=)	not provided [RCV003556672]	likely benign	10	99718481	99718481	Human		name
402473079	CV2908796	single nucleotide variant	NM_078470.6(COX15):c.561C>G (p.Leu187=)	not provided [RCV003570915]	likely benign	10	99726989	99726989	Human		name
402505740	CV2927772	single nucleotide variant	NM_078470.6(COX15):c.987G>A (p.Leu329=)	not provided [RCV003574436]	uncertain significance	10	99718346	99718346	Human		name
402502283	CV2932529	single nucleotide variant	NM_078470.6(COX15):c.585T>C (p.Gly195=)	not provided [RCV003574120]	likely benign	10	99724121	99724121	Human		name
405065916	CV2940037	single nucleotide variant	NM_078470.6(COX15):c.345G>A (p.Glu115=)	not provided [RCV003659095]	likely benign	10	99727491	99727491	Human		name
405124119	CV2942647	single nucleotide variant	NM_078470.6(COX15):c.633C>T (p.Asp211=)	not provided [RCV003671784]	likely benign	10	99724073	99724073	Human		name
405100703	CV2948189	single nucleotide variant	NM_078470.6(COX15):c.493C>T (p.Leu165=)	not provided [RCV003666152]	likely benign	10	99727057	99727057	Human		name
405167189	CV2950885	single nucleotide variant	NM_078470.6(COX15):c.447G>A (p.Glu149=)	not provided [RCV003675127]	likely benign	10	99727103	99727103	Human		name
405167543	CV2950922	single nucleotide variant	NM_078470.6(COX15):c.483T>C (p.Leu161=)	not provided [RCV003675154]	likely benign	10	99727067	99727067	Human		name
405133996	CV2959437	single nucleotide variant	NM_078470.6(COX15):c.600T>C (p.Tyr200=)	not provided [RCV003668632]	likely benign	10	99724106	99724106	Human		name
405151184	CV2959797	single nucleotide variant	NM_078470.6(COX15):c.636C>T (p.Ser212=)	not provided [RCV003674024]	likely benign	10	99724070	99724070	Human		name
405245881	CV2965570	single nucleotide variant	NM_078470.6(COX15):c.733C>T (p.Leu245=)	not provided [RCV003685286]	likely benign	10	99723973	99723973	Human		name
405245613	CV2969289	single nucleotide variant	NM_078470.6(COX15):c.537C>T (p.Gly179=)	not provided [RCV003685219]	likely benign	10	99727013	99727013	Human		name
405236849	CV2973564	single nucleotide variant	NM_078470.6(COX15):c.960C>A (p.Thr320=)	not provided [RCV003683222]	likely benign	10	99718373	99718373	Human		name
405247559	CV2976662	single nucleotide variant	NM_078470.6(COX15):c.819T>C (p.Leu273=)	not provided [RCV003685688]	likely benign	10	99721000	99721000	Human		name
402496598	CV2988732	single nucleotide variant	NM_078470.6(COX15):c.636C>G (p.Ser212=)	not provided [RCV003714319]	likely benign	10	99724070	99724070	Human		name
402518851	CV3000113	single nucleotide variant	NM_078470.6(COX15):c.372C>T (p.Tyr124=)	not provided [RCV003716277]	likely benign	10	99727464	99727464	Human		name
402521708	CV3002584	single nucleotide variant	NM_078470.6(COX15):c.498T>A (p.Pro166=)	not provided [RCV003690278]	likely benign	10	99727052	99727052	Human		name
405024048	CV3002973	single nucleotide variant	NM_078470.6(COX15):c.381T>C (p.Phe127=)	not provided [RCV003695072]	likely benign	10	99727455	99727455	Human		name
405248393	CV3003646	single nucleotide variant	NM_078470.6(COX15):c.415C>T (p.Leu139=)	not provided [RCV003721108]	likely benign	10	99727135	99727135	Human		name
405006360	CV3010134	single nucleotide variant	NM_078470.6(COX15):c.543A>G (p.Lys181=)	not provided [RCV003693611]	likely benign	10	99727007	99727007	Human		name
405045671	CV3017686	single nucleotide variant	NM_078470.6(COX15):c.762C>T (p.Thr254=)	not provided [RCV003696581]	likely benign	10	99721057	99721057	Human		name
405064346	CV3020747	single nucleotide variant	NM_078470.6(COX15):c.312A>G (p.Leu104=)	not provided [RCV003697920]	likely benign	10	99727524	99727524	Human		name
405049169	CV3025418	single nucleotide variant	NM_078470.6(COX15):c.591G>A (p.Leu197=)	not provided [RCV003696882]	likely benign	10	99724115	99724115	Human		name
405144468	CV3027330	single nucleotide variant	NM_078470.6(COX15):c.681G>A (p.Leu227=)	not provided [RCV003702799]	likely benign	10	99724025	99724025	Human		name
405182105	CV3027844	single nucleotide variant	NM_078470.6(COX15):c.756T>C (p.Pro252=)	not provided [RCV003705507]	likely benign	10	99721063	99721063	Human		name
402502702	CV3032509	single nucleotide variant	NM_078470.6(COX15):c.693G>C (p.Leu231=)	not provided [RCV003714907]	likely benign	10	99724013	99724013	Human		name
405253590	CV3048260	single nucleotide variant	NM_078470.6(COX15):c.966G>A (p.Val322=)	not provided [RCV003722601]	likely benign	10	99718367	99718367	Human		name
405129866	CV3054570	single nucleotide variant	NM_078470.6(COX15):c.714G>A (p.Leu238=)	not provided [RCV003724729]	likely benign	10	99723992	99723992	Human		name
405125234	CV3126444	single nucleotide variant	NM_078470.6(COX15):c.738C>T (p.Leu246=)	not provided [RCV003815196]	likely benign	10	99723968	99723968	Human		name
405159725	CV3152937	single nucleotide variant	NM_078470.6(COX15):c.561C>T (p.Leu187=)	not provided [RCV003840672]	likely benign	10	99726989	99726989	Human		name
12834585	CV371016	single nucleotide variant	NM_078470.6(COX15):c.918T>C (p.Phe306=)	not provided [RCV002521574]\|not specified [RCV000420200]	likely benign	10	99718415	99718415	Human		name
12838469	CV371019	single nucleotide variant	NM_078470.6(COX15):c.696T>G (p.Val232=)	not provided [RCV003727723]\|not specified [RCV000427028]	likely benign	10	99724010	99724010	Human		name
597831371	CV3739995	single nucleotide variant	NM_078470.6(COX15):c.693G>A (p.Leu231=)	not provided [RCV005062693]	likely benign	10	99724013	99724013	Human		name
597918502	CV3811333	single nucleotide variant	NM_078470.6(COX15):c.528C>T (p.Leu176=)	not provided [RCV005155368]	likely benign	10	99727022	99727022	Human		name
597850705	CV3824485	single nucleotide variant	NM_078470.6(COX15):c.690C>T (p.Ala230=)	not provided [RCV005173524]	likely benign	10	99724016	99724016	Human		name
13517796	CV492826	single nucleotide variant	NM_078470.6(COX15):c.41G>C (p.Gly14Ala)	not provided [RCV000596802]	uncertain significance	10	99732009	99732009	Human		name
13537167	CV503321	single nucleotide variant	NM_078470.6(COX15):c.795T>C (p.His265=)	not provided [RCV000920013]\|not specified [RCV000610021]	likely benign	10	99721024	99721024	Human		name
13540687	CV503325	single nucleotide variant	NM_078470.6(COX15):c.612T>C (p.Ser204=)	not provided [RCV003767661]\|not specified [RCV000615058]	likely benign	10	99724094	99724094	Human		name
13541292	CV503337	single nucleotide variant	NM_078470.6(COX15):c.474T>C (p.Leu158=)	COX15-related disorder [RCV003962763]\|not provided [RCV000880651]	likely benign	10	99727076	99727076	Human	1	name , trait , alternate_id
15199514	CV752368	single nucleotide variant	NM_078470.6(COX15):c.906G>A (p.Pro302=)	not provided [RCV000912570]	likely benign	10	99718427	99718427	Human		name
15198807	CV752369	single nucleotide variant	NM_078470.6(COX15):c.768A>G (p.Gln256=)	not provided [RCV000912363]	likely benign	10	99721051	99721051	Human		name
28910035	CV866731	single nucleotide variant	NM_078470.6(COX15):c.495G>T (p.Leu165=)	Leigh syndrome [RCV001108830]\|not provided [RCV005093505]	likely benign\|uncertain significance	10	99727055	99727055	Human	1	name
150434828	CV1244048	insertion	NM_078470.6(COX15):c.832+193_832+194insC	not provided [RCV001665255]	benign	10	99720793	99720794	Human		name
150489001	CV1265338	insertion	NM_078470.6(COX15):c.832+194_832+195insC	not provided [RCV001687374]	benign	10	99720792	99720793	Human		name
151790964	CV1389194	single nucleotide variant	NM_078470.6(COX15):c.287G>T (p.Gly96Val)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV002471216]\|not provided [RCV002010700]	likely pathogenic\|uncertain significance	10	99727549	99727549	Human	1	name
151854708	CV1391002	single nucleotide variant	NM_078470.6(COX15):c.200G>A (p.Arg67Gln)	not provided [RCV001958445]	uncertain significance	10	99729625	99729625	Human		name
151743959	CV1398230	deletion	NM_078470.6(COX15):c.991del (p.Ile331fs)	not provided [RCV002042522]	uncertain significance	10	99716458	99716458	Human		name
8690765	CV140717	single nucleotide variant	NM_078470.6(COX15):c.1209T>C (p.Asn403=)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV000755986]\|not provided [RCV004717999]\|not specified [RCV000124579]	benign	10	99714611	99714611	Human	1	name
151751605	CV1464206	single nucleotide variant	NM_078470.6(COX15):c.284C>G (p.Ser95Cys)	Inborn genetic diseases [RCV002560585]\|not provided [RCV001948191]	uncertain significance	10	99727552	99727552	Human	1	name
155799926	CV1862705	single nucleotide variant	NM_078470.6(COX15):c.211C>T (p.Arg71Ter)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV002472112]\|not provided [RCV005098460]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	10	99729614	99729614	Human	1	name
156255807	CV1946962	single nucleotide variant	NM_078470.6(COX15):c.199C>T (p.Arg67Trp)	Inborn genetic diseases [RCV003008636]\|not provided [RCV003108213]	uncertain significance	10	99729626	99729626	Human	1	name
156229687	CV1959094	single nucleotide variant	NM_078470.6(COX15):c.232G>A (p.Gly78Arg)	not provided [RCV002596761]	uncertain significance	10	99729593	99729593	Human		name
10049170	CV195954	single nucleotide variant	NM_078470.6(COX15):c.1026C>T (p.Phe342=)	not provided [RCV000755985]\|not specified [RCV000180245]	benign\|likely benign\|conflicting interpretations of pathogenicity	10	99716423	99716423	Human		name
156239811	CV1996319	single nucleotide variant	NM_078470.6(COX15):c.110C>T (p.Pro37Leu)	not provided [RCV002667890]	uncertain significance	10	99729715	99729715	Human		name
156364262	CV2013842	single nucleotide variant	NM_078470.6(COX15):c.122G>A (p.Gly41Glu)	Inborn genetic diseases [RCV003375678]\|not provided [RCV002721075]	uncertain significance	10	99729703	99729703	Human	1	name
156282210	CV2050012	single nucleotide variant	NM_078470.6(COX15):c.176C>G (p.Ser59Cys)	not provided [RCV002807028]	uncertain significance	10	99729649	99729649	Human		name
10410221	CV211475	single nucleotide variant	NM_078470.6(COX15):c.281A>C (p.Glu94Ala)	not provided [RCV000197734]\|not specified [RCV004700587]	likely pathogenic\|uncertain significance	10	99727555	99727555	Human		name
10410002	CV211476	single nucleotide variant	NM_078470.6(COX15):c.164G>A (p.Arg55Lys)	Inborn genetic diseases [RCV002517204]\|Leigh syndrome [RCV000291406]\|not provided [RCV002515389]\|not specified [RCV000197287]	likely benign\|uncertain significance	10	99729661	99729661	Human	2	name
10411400	CV211477	single nucleotide variant	NM_078470.6(COX15):c.155A>G (p.Gln52Arg)	not specified [RCV000200181]	likely benign	10	99729670	99729670	Human		name
10409828	CV211478	single nucleotide variant	NM_078470.5(COX15):c.121G>T (p.Gly41Trp)	not specified [RCV000196937]	uncertain significance	10	99729704	99729704	Human		name
10410534	CV211479	single nucleotide variant	NM_078470.6(COX15):c.106C>T (p.Arg36Cys)	Inborn genetic diseases [RCV002515388]\|not provided [RCV001853173]\|not specified [RCV000198373]	likely benign\|uncertain significance	10	99729719	99729719	Human	1	name
156199434	CV2153700	single nucleotide variant	NM_078470.6(COX15):c.1059C>G (p.Thr353=)	not provided [RCV003006270]	likely benign	10	99716390	99716390	Human		name
155973043	CV2154573	single nucleotide variant	NM_078470.6(COX15):c.200G>C (p.Arg67Pro)	not provided [RCV003033522]	uncertain significance	10	99729625	99729625	Human		name
156158246	CV2191007	single nucleotide variant	NM_078470.6(COX15):c.236C>G (p.Thr79Arg)	not provided [RCV003040608]	uncertain significance	10	99729589	99729589	Human		name
401737907	CV2700795	single nucleotide variant	NM_078470.6(COX15):c.212G>A (p.Arg71Gln)	Inborn genetic diseases [RCV003291702]	uncertain significance	10	99729613	99729613	Human	1	name
405021027	CV2862593	deletion	NM_078470.6(COX15):c.819del (p.Thr274fs)	not provided [RCV003577579]	pathogenic	10	99721000	99721000	Human		name
405205469	CV2912594	duplication	NM_078470.6(COX15):c.467dup (p.Arg157fs)	not provided [RCV003566360]	pathogenic	10	99727082	99727083	Human		name
405175851	CV2915513	duplication	NM_078470.6(COX15):c.298dup (p.Val100fs)	not provided [RCV003563459]	pathogenic	10	99727537	99727538	Human		name
402505342	CV2927710	duplication	NM_078470.6(COX15):c.416dup (p.Thr140fs)	not provided [RCV003574400]	pathogenic	10	99727133	99727134	Human		name
402492478	CV2945777	single nucleotide variant	NM_078470.6(COX15):c.1054A>C (p.Arg352=)	not provided [RCV003660635]	likely benign	10	99716395	99716395	Human		name
405178579	CV2952127	single nucleotide variant	NM_078470.6(COX15):c.1078C>T (p.Leu360=)	not provided [RCV003675987]	likely benign	10	99716371	99716371	Human		name
405185236	CV2963834	single nucleotide variant	NM_078470.6(COX15):c.1074G>A (p.Val358=)	not provided [RCV003676684]	likely benign	10	99716375	99716375	Human		name
405216193	CV2972019	duplication	NM_078470.6(COX15):c.562dup (p.Cys188fs)	not provided [RCV003680054]	pathogenic	10	99726987	99726988	Human		name
402495256	CV2978431	single nucleotide variant	NM_078470.6(COX15):c.1017G>A (p.Val339=)	not provided [RCV003714093]	likely benign	10	99716432	99716432	Human		name
405130303	CV3010987	single nucleotide variant	NM_078470.6(COX15):c.1092G>T (p.Ala364=)	not provided [RCV003701638]	likely benign	10	99716357	99716357	Human		name
405031342	CV3012818	single nucleotide variant	NM_078470.6(COX15):c.1005T>G (p.Thr335=)	not provided [RCV003695593]	likely benign	10	99716444	99716444	Human		name
405234769	CV3040686	duplication	NM_078470.6(COX15):c.610dup (p.Ser204fs)	not provided [RCV003712137]	pathogenic	10	99724095	99724096	Human		name
402481260	CV3041582	single nucleotide variant	NM_078470.6(COX15):c.1056G>A (p.Arg352=)	not provided [RCV003712872]	likely benign	10	99716393	99716393	Human		name
405210305	CV3146178	duplication	NM_078470.6(COX15):c.559dup (p.Leu187fs)	not provided [RCV003845709]	pathogenic	10	99726990	99726991	Human		name
11611677	CV317639	single nucleotide variant	NM_078470.6(COX15):c.131G>A (p.Ser44Asn)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV002504048]\|Inborn genetic diseases [RCV002522137]\|Leigh syndrome [RCV000398229]\|not provided [RCV001859775]	uncertain significance	10	99729694	99729694	Human	3	name
11604630	CV317640	single nucleotide variant	NM_078470.6(COX15):c.107G>A (p.Arg36His)	Mitochondrial complex IV deficiency, nuclear type 1 [RCV000311404]\|not provided [RCV001850575]	uncertain significance	10	99729718	99729718	Human	1	name
405251480	CV3181338	single nucleotide variant	NM_078470.6(COX15):c.1080G>C (p.Leu360=)	not provided [RCV003870340]	likely benign	10	99716369	99716369	Human		name
405685364	CV3235724	single nucleotide variant	NM_078470.6(COX15):c.233G>C (p.Gly78Ala)	Inborn genetic diseases [RCV004372238]	uncertain significance	10	99729592	99729592	Human	1	name
11623554	CV324311	single nucleotide variant	NM_078470.6(COX15):c.1029C>A (p.Leu343=)	Leigh syndrome [RCV000374551]\|not provided [RCV003718156]	likely benign\|uncertain significance	10	99716420	99716420	Human	1	name
11621238	CV324327	single nucleotide variant	NM_078470.6(COX15):c.161G>A (p.Gly54Glu)	Inborn genetic diseases [RCV003372684]\|Leigh syndrome [RCV000346270]	uncertain significance	10	99729664	99729664	Human	2	name
12839935	CV371013	single nucleotide variant	NM_078470.6(COX15):c.1122G>A (p.Thr374=)	not provided [RCV001703758]	likely benign	10	99714698	99714698	Human		name
597640391	CV3724344	deletion	NM_078470.6(COX15):c.755del (p.Pro252fs)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV005024956]	likely pathogenic	10	99721064	99721064	Human	1	name
597877603	CV3860286	single nucleotide variant	NM_078470.6(COX15):c.1092G>C (p.Ala364=)	not provided [RCV005198495]	likely benign	10	99716357	99716357	Human		name
598125920	CV3883353	single nucleotide variant	NM_078470.6(COX15):c.209G>A (p.Gly70Asp)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV005233224]	likely pathogenic	10	99729616	99729616	Human	1	name
598126218	CV3886141	single nucleotide variant	NM_078470.6(COX15):c.163A>G (p.Arg55Gly)	not provided [RCV005241944]	uncertain significance	10	99729662	99729662	Human		name
598234752	CV3945060	single nucleotide variant	NM_078470.6(COX15):c.218T>C (p.Leu73Pro)	Inborn genetic diseases [RCV005320129]	uncertain significance	10	99729607	99729607	Human	1	name
15101568	CV701510	single nucleotide variant	NM_078470.6(COX15):c.1092G>A (p.Ala364=)	not provided [RCV000959120]	likely benign	10	99716357	99716357	Human		name
15203445	CV752367	single nucleotide variant	NM_078470.6(COX15):c.1068A>G (p.Ala356=)	not provided [RCV000913999]	likely benign	10	99716381	99716381	Human		name
28900099	CV866732	single nucleotide variant	NM_078470.6(COX15):c.293C>T (p.Ser98Leu)	Leigh syndrome [RCV001103673]	uncertain significance	10	99727543	99727543	Human	1	name
126725126	CV1017354	single nucleotide variant	NM_078470.6(COX15):c.305G>A (p.Trp102Ter)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV001331215]\|Leigh syndrome [RCV002307728]\|not provided [RCV003738044]	pathogenic\|likely pathogenic	10	99727531	99727531	Human	2	name
150422978	CV1180735	single nucleotide variant	NM_078470.6(COX15):c.329C>T (p.Pro110Leu)	not provided [RCV001553384]\|not specified [RCV002222717]	uncertain significance	10	99727507	99727507	Human		name
150409895	CV1196062	single nucleotide variant	NM_078470.6(COX15):c.635C>T (p.Ser212Phe)	not provided [RCV001572838]	uncertain significance	10	99724071	99724071	Human		name
150545609	CV1315791	single nucleotide variant	NM_078470.6(COX15):c.490A>G (p.Ile164Val)	Leigh syndrome [RCV001784122]	uncertain significance	10	99727060	99727060	Human	1	name
151726645	CV1339751	single nucleotide variant	NM_078470.6(COX15):c.426C>A (p.Phe142Leu)	not provided [RCV002004339]	uncertain significance	10	99727124	99727124	Human		name
8690767	CV140719	single nucleotide variant	NM_078470.6(COX15):c.548G>A (p.Arg183His)	COX15-related disorder [RCV003935183]\|Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV001001608]\|Leigh syndrome [RCV001108829]\|not provided [RCV000947276]\|not specified [RCV000124581]	benign\|likely benign	10	99727002	99727002	Human	2	name , trait , alternate_id
151823361	CV1466273	single nucleotide variant	NM_078470.6(COX15):c.484G>T (p.Val162Leu)	not provided [RCV001879430]	uncertain significance	10	99727066	99727066	Human		name
151778696	CV1471158	single nucleotide variant	NM_078470.6(COX15):c.458G>A (p.Arg153Gln)	Inborn genetic diseases [RCV003375465]\|not provided [RCV001971874]	uncertain significance	10	99727092	99727092	Human	1	name
151887193	CV1496163	single nucleotide variant	NM_078470.6(COX15):c.679C>G (p.Leu227Val)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV004762199]\|not provided [RCV001887715]	uncertain significance	10	99724027	99724027	Human	1	name
153345915	CV1690867	single nucleotide variant	NM_078470.6(COX15):c.430T>C (p.Phe144Leu)	not specified [RCV002271766]	uncertain significance	10	99727120	99727120	Human		name
155749548	CV1774002	single nucleotide variant	NM_078470.6(COX15):c.626A>G (p.Lys209Arg)	not provided [RCV002304765]	uncertain significance	10	99724080	99724080	Human		name
155693782	CV1779708	single nucleotide variant	NM_078470.6(COX15):c.539T>A (p.Met180Lys)	not provided [RCV002295068]	uncertain significance	10	99727011	99727011	Human		name
155798004	CV1860573	single nucleotide variant	NM_078470.6(COX15):c.969G>T (p.Gln323His)	not provided [RCV002467215]	uncertain significance	10	99718364	99718364	Human		name
155799762	CV1862618	single nucleotide variant	NM_078470.6(COX15):c.839T>C (p.Phe280Ser)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV002472025]	likely pathogenic	10	99718494	99718494	Human	1	name
156057631	CV1879771	single nucleotide variant	NM_078470.6(COX15):c.926C>T (p.Ser309Phe)	Inborn genetic diseases [RCV004614327]\|not provided [RCV003053223]	uncertain significance	10	99718407	99718407	Human	1	name
156003598	CV1895817	single nucleotide variant	NM_078470.6(COX15):c.544G>C (p.Gly182Arg)	Inborn genetic diseases [RCV003098918]\|not provided [RCV003098917]	uncertain significance	10	99727006	99727006	Human	1	name
156023718	CV1899618	single nucleotide variant	NM_078470.6(COX15):c.743C>T (p.Pro248Leu)	not provided [RCV003100323]	uncertain significance	10	99723963	99723963	Human		name
156357177	CV1901244	single nucleotide variant	NM_078470.6(COX15):c.513G>T (p.Trp171Cys)	not provided [RCV002602248]	uncertain significance	10	99727037	99727037	Human		name
156029529	CV1923123	single nucleotide variant	NM_078470.6(COX15):c.332C>G (p.Pro111Arg)	not provided [RCV002637098]	uncertain significance	10	99727504	99727504	Human		name
156412230	CV1970338	single nucleotide variant	NM_078470.6(COX15):c.335C>T (p.Thr112Ile)	not provided [RCV002608480]	uncertain significance	10	99727501	99727501	Human		name
156357886	CV1976953	single nucleotide variant	NM_078470.6(COX15):c.547C>T (p.Arg183Cys)	not provided [RCV002581516]	uncertain significance	10	99727003	99727003	Human		name
156331132	CV1991052	single nucleotide variant	NM_078470.6(COX15):c.640G>A (p.Asp214Asn)	not provided [RCV002630935]	uncertain significance	10	99724066	99724066	Human		name
156246947	CV1992805	deletion	NM_078470.6(COX15):c.1039del (p.Ile347fs)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV005025917]\|not provided [RCV002627322]	likely pathogenic\|uncertain significance	10	99716410	99716410	Human	1	name
156405693	CV1994527	single nucleotide variant	NM_078470.6(COX15):c.637C>G (p.His213Asp)	not provided [RCV002658371]	uncertain significance	10	99724069	99724069	Human		name
156388784	CV1996032	single nucleotide variant	NM_078470.6(COX15):c.686C>A (p.Ser229Ter)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV005025946]\|not provided [RCV002654195]	pathogenic\|likely pathogenic	10	99724020	99724020	Human	1	name
156351388	CV1997710	single nucleotide variant	NM_078470.6(COX15):c.979C>T (p.Arg327Trp)	not provided [RCV002675620]	uncertain significance	10	99718354	99718354	Human		name
156305249	CV2013689	single nucleotide variant	NM_078470.6(COX15):c.535G>A (p.Gly179Ser)	Inborn genetic diseases [RCV003273991]\|not provided [RCV002716247]	uncertain significance	10	99727015	99727015	Human	1	name
156273086	CV2018514	single nucleotide variant	NM_078470.6(COX15):c.515G>A (p.Arg172Lys)	not provided [RCV002715048]	uncertain significance	10	99727035	99727035	Human		name
156144622	CV2033102	single nucleotide variant	NM_078470.6(COX15):c.817C>T (p.Leu273Phe)	not provided [RCV002741020]	uncertain significance	10	99721002	99721002	Human		name
156022260	CV2040733	single nucleotide variant	NM_078470.6(COX15):c.506A>G (p.Tyr169Cys)	Inborn genetic diseases [RCV002786484]\|not provided [RCV002795643]	uncertain significance	10	99727044	99727044	Human	1	name
156232266	CV2048778	single nucleotide variant	NM_078470.6(COX15):c.776A>C (p.Gln259Pro)	not provided [RCV002791042]	uncertain significance	10	99721043	99721043	Human		name
156020829	CV2058933	single nucleotide variant	NM_078470.6(COX15):c.740C>T (p.Pro247Leu)	not provided [RCV002820605]	uncertain significance	10	99723966	99723966	Human		name
155930553	CV2067254	single nucleotide variant	NM_078470.6(COX15):c.490A>C (p.Ile164Leu)	not provided [RCV002838740]	uncertain significance	10	99727060	99727060	Human		name
10409307	CV211469	single nucleotide variant	NM_078470.6(COX15):c.929C>G (p.Pro310Arg)	COX15-related disorder [RCV003927838]\|Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV004558441]\|Leigh syndrome [RCV000321049]\|not provided [RCV000195853]	likely pathogenic\|benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	99718404	99718404	Human	2	name , trait , alternate_id
10410062	CV211470	single nucleotide variant	NM_078470.6(COX15):c.913C>T (p.Leu305Phe)	not provided [RCV000197413]	uncertain significance	10	99718420	99718420	Human		name
10411503	CV211471	single nucleotide variant	NM_078470.6(COX15):c.794A>G (p.His265Arg)	not provided [RCV000200399]	uncertain significance	10	99721025	99721025	Human		name
10409363	CV211472	single nucleotide variant	NM_078470.6(COX15):c.520G>A (p.Gly174Ser)	not provided [RCV000195969]	uncertain significance	10	99727030	99727030	Human		name
10411135	CV211473	single nucleotide variant	NM_078470.5(COX15):c.476T>G (p.Val159Gly)	not specified [RCV000199624]	uncertain significance	10	99727074	99727074	Human		name
156113357	CV2117414	single nucleotide variant	NM_078470.6(COX15):c.857C>T (p.Ala286Val)	not provided [RCV002953209]	uncertain significance	10	99718476	99718476	Human		name
8559152	CV21214	single nucleotide variant	NM_078470.6(COX15):c.649C>T (p.Arg217Trp)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV000006551]\|Inborn genetic diseases [RCV002512834]\|not provided [RCV001553427]	pathogenic	10	99724057	99724057	Human	2	name
156212883	CV2127834	single nucleotide variant	NM_078470.6(COX15):c.928C>G (p.Pro310Ala)	not provided [RCV002957820]	uncertain significance	10	99718405	99718405	Human		name
155962470	CV2134531	single nucleotide variant	NM_078470.6(COX15):c.980G>A (p.Arg327Gln)	not provided [RCV002972454]	uncertain significance	10	99718353	99718353	Human		name
156170650	CV2169898	single nucleotide variant	NM_078470.6(COX15):c.475G>T (p.Val159Leu)	not provided [RCV003023503]	uncertain significance	10	99727075	99727075	Human		name
156010652	CV2170530	single nucleotide variant	NM_078470.6(COX15):c.518A>G (p.Lys173Arg)	not provided [RCV003017724]	uncertain significance	10	99727032	99727032	Human		name
156023454	CV2184752	single nucleotide variant	NM_078470.6(COX15):c.670G>A (p.Ala224Thr)	not provided [RCV003035845]	uncertain significance	10	99724036	99724036	Human		name
156260542	CV2216354	single nucleotide variant	NM_078470.6(COX15):c.301G>C (p.Asp101His)	Inborn genetic diseases [RCV002702997]	uncertain significance	10	99727535	99727535	Human	1	name
329360913	CV2439876	single nucleotide variant	NM_078470.6(COX15):c.306G>T (p.Trp102Cys)	Inborn genetic diseases [RCV003180159]	uncertain significance	10	99727530	99727530	Human	1	name
329382443	CV2465155	single nucleotide variant	NM_078470.6(COX15):c.469C>T (p.Arg157Cys)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV005230466]\|Inborn genetic diseases [RCV003213365]	likely pathogenic\|uncertain significance	10	99727081	99727081	Human	2	name
401961821	CV2844143	single nucleotide variant	NM_078470.6(COX15):c.553C>G (p.Leu185Val)	not provided [RCV003481984]	uncertain significance	10	99726997	99726997	Human		name
405161765	CV2950412	single nucleotide variant	NM_078470.6(COX15):c.717G>A (p.Trp239Ter)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV005030154]\|not provided [RCV003674733]	pathogenic\|likely pathogenic	10	99723989	99723989	Human	1	name
405221663	CV2966011	duplication	NM_078470.6(COX15):c.371dup (p.Tyr124Ter)	not provided [RCV003680674]	pathogenic	10	99727464	99727465	Human		name
405043278	CV3017423	single nucleotide variant	NM_078470.6(COX15):c.663C>A (p.Tyr221Ter)	not provided [RCV003696483]	pathogenic	10	99724043	99724043	Human		name
402510246	CV3042370	single nucleotide variant	NM_078470.6(COX15):c.507C>G (p.Tyr169Ter)	not provided [RCV003715528]	pathogenic	10	99727043	99727043	Human		name
405091031	CV3122602	single nucleotide variant	NM_078470.6(COX15):c.457C>T (p.Arg153Ter)	not provided [RCV003811167]	pathogenic	10	99727093	99727093	Human		name
405156492	CV3163495	single nucleotide variant	NM_078470.6(COX15):c.372C>A (p.Tyr124Ter)	not provided [RCV003856741]	pathogenic	10	99727464	99727464	Human		name
405685379	CV3235727	single nucleotide variant	NM_078470.6(COX15):c.866T>C (p.Val289Ala)	Inborn genetic diseases [RCV004372241]	uncertain significance	10	99718467	99718467	Human	1	name
11607560	CV323606	single nucleotide variant	NM_078470.6(COX15):c.406G>C (p.Asp136His)	Leigh syndrome [RCV000345111]\|not provided [RCV002520522]	uncertain significance	10	99727144	99727144	Human	1	name
11661807	CV324316	single nucleotide variant	NM_078470.6(COX15):c.717G>T (p.Trp239Cys)	Leigh syndrome [RCV000380272]	uncertain significance	10	99723989	99723989	Human	1	name
407573204	CV3498856	single nucleotide variant	NM_078470.6(COX15):c.597G>A (p.Trp199Ter)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV005023647]\|Leigh syndrome [RCV004699825]	pathogenic\|likely pathogenic	10	99724109	99724109	Human	2	name
12842343	CV371014	single nucleotide variant	NM_078470.6(COX15):c.933C>G (p.Ile311Met)	Inborn genetic diseases [RCV002524763]\|not provided [RCV000728523]\|not specified [RCV000434228]	likely benign\|uncertain significance	10	99718400	99718400	Human	1	name
597652056	CV3724388	single nucleotide variant	NM_078470.6(COX15):c.319G>T (p.Glu107Ter)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV005026952]	likely pathogenic	10	99727517	99727517	Human	1	name
597898314	CV3806934	single nucleotide variant	NM_078470.6(COX15):c.428A>C (p.Lys143Thr)	not provided [RCV005152321]	uncertain significance	10	99727122	99727122	Human		name
598234739	CV3945058	single nucleotide variant	NM_078470.6(COX15):c.890G>A (p.Gly297Glu)	Inborn genetic diseases [RCV005320127]	uncertain significance	10	99718443	99718443	Human	1	name
13519586	CV487425	single nucleotide variant	NM_078470.6(COX15):c.452C>G (p.Ser151Ter)	COX15-related disorder [RCV004757251]\|Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV000033254]\|Leigh syndrome [RCV000586150]\|See cases [RCV002252173]\|not provided [RCV000599531]	pathogenic\|likely pathogenic\|uncertain significance	10	99727098	99727098	Human	2	name , trait , alternate_id
13528167	CV513311	single nucleotide variant	NM_078470.6(COX15):c.532C>T (p.Arg178Cys)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV000625907]\|not provided [RCV002060702]	likely pathogenic\|likely benign\|uncertain significance	10	99727018	99727018	Human	1	name
13703145	CV537141	single nucleotide variant	NM_078470.6(COX15):c.821C>T (p.Thr274Met)	not provided [RCV000658576]	uncertain significance	10	99720998	99720998	Human		name
14688100	CV620372	single nucleotide variant	NM_078470.6(COX15):c.784C>T (p.Arg262Ter)	not provided [RCV002535631]	pathogenic\|uncertain significance	10	99721035	99721035	Human		name
15014892	CV679453	single nucleotide variant	NM_078470.6(COX15):c.694G>T (p.Val232Phe)	Cardiomyopathy [RCV000852421]	uncertain significance	10	99724012	99724012	Human	2	name
15137922	CV737684	single nucleotide variant	NM_078470.6(COX15):c.664C>T (p.Arg222Cys)	COX15-related disorder [RCV003950526]\|Leigh syndrome [RCV001108828]\|not provided [RCV000898890]	benign\|likely benign\|conflicting interpretations of pathogenicity	10	99724042	99724042	Human	2	name , trait , alternate_id
28910030	CV866729	single nucleotide variant	NM_078470.6(COX15):c.841G>A (p.Val281Met)	Leigh syndrome [RCV001108825]	uncertain significance	10	99718492	99718492	Human	1	name
28910033	CV866730	single nucleotide variant	NM_078470.6(COX15):c.665G>A (p.Arg222His)	Leigh syndrome [RCV001108827]\|not provided [RCV002558088]	uncertain significance	10	99724041	99724041	Human	1	name
34890852	CV904545	single nucleotide variant	NM_078470.6(COX15):c.362T>C (p.Phe121Ser)	not provided [RCV001171777]	uncertain significance	10	99727474	99727474	Human		name
151832646	CV1356177	single nucleotide variant	NM_078470.6(COX15):c.1028T>G (p.Leu343Arg)	not provided [RCV002030956]	uncertain significance	10	99716421	99716421	Human		name
151756590	CV1513686	single nucleotide variant	NM_078470.6(COX15):c.1091C>T (p.Ala364Val)	Leigh syndrome [RCV005370032]\|not provided [RCV001928041]	uncertain significance	10	99716358	99716358	Human	1	name
155949379	CV1921840	single nucleotide variant	NM_078470.6(COX15):c.1034G>A (p.Arg345Gln)	not provided [RCV002616135]	uncertain significance	10	99716415	99716415	Human		name
156340844	CV1974085	single nucleotide variant	NM_078470.6(COX15):c.1051A>G (p.Arg351Gly)	not provided [RCV002601271]	uncertain significance	10	99716398	99716398	Human		name
156254865	CV2041219	single nucleotide variant	NM_078470.6(COX15):c.1046T>C (p.Leu349Pro)	Inborn genetic diseases [RCV002806134]\|not provided [RCV002806133]	uncertain significance	10	99716403	99716403	Human	1	name
156007249	CV2042425	single nucleotide variant	NM_078470.6(COX15):c.1021T>C (p.Tyr341His)	not provided [RCV002794907]	uncertain significance	10	99716428	99716428	Human		name
10409249	CV211465	single nucleotide variant	NM_078470.5(COX15):c.1200G>C (p.Trp400Cys)	not provided [RCV000195737]	likely pathogenic	10	99714620	99714620	Human		name
10410984	CV211466	single nucleotide variant	NM_078470.5(COX15):c.1181T>C (p.Leu394Ser)	not provided [RCV000199309]	likely pathogenic	10	99714639	99714639	Human		name
10411674	CV211467	single nucleotide variant	NM_078470.6(COX15):c.1015G>A (p.Val339Met)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV001336681]\|not specified [RCV000200757]	likely benign\|uncertain significance	10	99716434	99716434	Human	1	name
10410436	CV211468	single nucleotide variant	NM_078470.6(COX15):c.1000G>T (p.Val334Phe)	Inborn genetic diseases [RCV002517203]\|not provided [RCV000994490]	likely benign\|uncertain significance	10	99716449	99716449	Human	1	name
156284159	CV2134015	single nucleotide variant	NM_078470.6(COX15):c.1031C>A (p.Ser344Tyr)	not provided [RCV003009704]	uncertain significance	10	99716418	99716418	Human		name
329392750	CV2439159	single nucleotide variant	NM_078470.6(COX15):c.1033C>T (p.Arg345Trp)	Inborn genetic diseases [RCV003192822]	uncertain significance	10	99716416	99716416	Human	1	name
596925709	CV3530556	single nucleotide variant	NM_078470.6(COX15):c.1217G>A (p.Arg406Gln)	not provided [RCV004778141]	uncertain significance	10	99714603	99714603	Human		name
8570774	CV48742	single nucleotide variant	NM_078470.6(COX15):c.1030T>C (p.Ser344Pro)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV000033253]\|not provided [RCV000413484]\|not specified [RCV003234935]	pathogenic\|likely pathogenic\|uncertain significance	10	99716419	99716419	Human	1	name
15124147	CV737683	single nucleotide variant	NM_078470.6(COX15):c.1040T>C (p.Ile347Thr)	not provided [RCV000896536]	likely benign	10	99716409	99716409	Human		name
402466603	CV2914680	deletion	NM_078470.6(COX15):c.264_265del (p.Val89fs)	not provided [RCV003569402]	pathogenic	10	99729560	99729561	Human		name
12913375	CV421813	microsatellite	NM_078470.6(COX15):c.281_282del (p.Glu94fs)	not provided [RCV000493741]	pathogenic	10	99727554	99727555	Human		name
596928491	CV3532933	insertion	NM_078470.6(COX15):c.335_336insT (p.Ser113fs)	not provided [RCV004779032]	likely pathogenic	10	99727500	99727501	Human		name

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