Elac2 Variant Search Result - Rat Genome Database

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1001 records found for search term Elac2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150418551	CV1195151	single nucleotide variant	NM_018127.7(ELAC2):c.*33G>T	not provided [RCV001569270]	likely benign	17	12992785	12992785	Human		name
150441406	CV1204545	single nucleotide variant	NM_018127.7(ELAC2):c.-66G>C	not provided [RCV001583652]	likely benign	17	13018013	13018013	Human		name
12838231	CV375736	single nucleotide variant	NM_018127.7(ELAC2):c.-19T>C	not specified [RCV000426592]	likely benign	17	13017966	13017966	Human		name
13538482	CV505746	single nucleotide variant	NM_018127.7(ELAC2):c.-30G>A	not specified [RCV000611894]	likely benign	17	13017977	13017977	Human		name
150338874	CV1167676	single nucleotide variant	NM_018127.7(ELAC2):c.*320G>A	not provided [RCV001533819]	benign	17	12992498	12992498	Human		name
150501446	CV1223707	single nucleotide variant	NM_018127.7(ELAC2):c.*206C>T	not provided [RCV001620828]	benign	17	12992612	12992612	Human		name
150509316	CV1229858	single nucleotide variant	NM_018127.7(ELAC2):c.*151C>G	not provided [RCV001636438]	benign	17	12992667	12992667	Human		name
150466562	CV1277426	single nucleotide variant	NM_018127.7(ELAC2):c.*280T>A	not provided [RCV001710721]	benign	17	12992538	12992538	Human		name
14745714	CV668698	single nucleotide variant	NM_018127.6(ELAC2):c.-318C>G	not provided [RCV000843667]	likely benign	17	13018265	13018265	Human		name
14745711	CV668830	single nucleotide variant	NM_018127.6(ELAC2):c.-381A>G	not provided [RCV000843663]	benign	17	13018328	13018328	Human		name
14745710	CV668832	single nucleotide variant	NM_018127.6(ELAC2):c.-408C>T	not provided [RCV000843662]	benign	17	13018355	13018355	Human		name
127259291	CV1082718	single nucleotide variant	NM_018127.7(ELAC2):c.738+7A>C	Combined oxidative phosphorylation defect type 17 [RCV001419754]	likely benign	17	13010606	13010606	Human	1	name
127287541	CV1125932	single nucleotide variant	NM_018127.7(ELAC2):c.738+9G>C	Combined oxidative phosphorylation defect type 17 [RCV001450140]	likely benign	17	13010604	13010604	Human	1	name
151812274	CV1359600	single nucleotide variant	NM_018127.7(ELAC2):c.246-2A>G	Combined oxidative phosphorylation defect type 17 [RCV001991949]	likely pathogenic	17	13017123	13017123	Human	1	name
151864435	CV1361224	single nucleotide variant	NM_018127.7(ELAC2):c.433-5A>G	Combined oxidative phosphorylation defect type 17 [RCV001905719]	likely benign\|uncertain significance	17	13014501	13014501	Human	1	name
151808159	CV1417831	single nucleotide variant	NM_018127.7(ELAC2):c.984-8C>A	Combined oxidative phosphorylation defect type 17 [RCV001867747]	likely benign\|uncertain significance	17	13003582	13003582	Human	1	name
151788083	CV1419696	single nucleotide variant	NM_018127.7(ELAC2):c.560-1G>A	Combined oxidative phosphorylation defect type 17 [RCV001951766]	uncertain significance	17	13011783	13011783	Human	1	name
151794372	CV1420558	single nucleotide variant	NM_018127.7(ELAC2):c.491-5T>C	Combined oxidative phosphorylation defect type 17 [RCV002027516]	likely benign\|uncertain significance	17	13013280	13013280	Human	1	name
151726707	CV1433562	single nucleotide variant	NM_018127.7(ELAC2):c.432+1G>A	Combined oxidative phosphorylation defect type 17 [RCV001983769]	likely pathogenic	17	13015767	13015767	Human	1	name
152038981	CV1538227	single nucleotide variant	NM_018127.7(ELAC2):c.679+9A>G	Combined oxidative phosphorylation defect type 17 [RCV002206052]	benign	17	13011654	13011654	Human	1	name
152054013	CV1543864	single nucleotide variant	NM_018127.7(ELAC2):c.984-5C>T	Combined oxidative phosphorylation defect type 17 [RCV002167213]	likely benign	17	13003579	13003579	Human	1	name
152133014	CV1557391	single nucleotide variant	NM_018127.7(ELAC2):c.559+8T>C	Combined oxidative phosphorylation defect type 17 [RCV002137179]	likely benign	17	13013199	13013199	Human	1	name
152145387	CV1576722	single nucleotide variant	NM_018127.7(ELAC2):c.491-6T>C	Combined oxidative phosphorylation defect type 17 [RCV002101383]	likely benign	17	13013281	13013281	Human	1	name
152153631	CV1579342	single nucleotide variant	NM_018127.7(ELAC2):c.560-6G>A	Combined oxidative phosphorylation defect type 17 [RCV002158555]	likely benign	17	13011788	13011788	Human	1	name
152157583	CV1586229	single nucleotide variant	NM_018127.7(ELAC2):c.296+9G>A	Combined oxidative phosphorylation defect type 17 [RCV002140363]	likely benign	17	13017062	13017062	Human	1	name
152028002	CV1607631	single nucleotide variant	NM_018127.7(ELAC2):c.984-4C>T	Combined oxidative phosphorylation defect type 17 [RCV002105085]	likely benign	17	13003578	13003578	Human	1	name
152054768	CV1648579	single nucleotide variant	NM_018127.7(ELAC2):c.871-9G>C	Combined oxidative phosphorylation defect type 17 [RCV002072796]	likely benign	17	13005110	13005110	Human	1	name
156062728	CV1888612	single nucleotide variant	NM_018127.7(ELAC2):c.797+1G>A	Combined oxidative phosphorylation defect type 17 [RCV003079282]	likely pathogenic	17	13005920	13005920	Human	1	name
156021646	CV1911544	single nucleotide variant	NM_018127.7(ELAC2):c.490+5G>A	Combined oxidative phosphorylation defect type 17 [RCV002636736]	uncertain significance	17	13014434	13014434	Human	1	name
156374276	CV1932998	single nucleotide variant	NM_018127.7(ELAC2):c.797+8T>G	Combined oxidative phosphorylation defect type 17 [RCV002633688]	likely benign\|uncertain significance	17	13005913	13005913	Human	1	name
156442752	CV1948943	single nucleotide variant	NM_018127.7(ELAC2):c.797+9G>A	Combined oxidative phosphorylation defect type 17 [RCV003113104]	likely benign	17	13005912	13005912	Human	1	name
156150731	CV1960926	single nucleotide variant	NM_018127.7(ELAC2):c.246-7C>A	Combined oxidative phosphorylation defect type 17 [RCV002572890]	likely benign	17	13017128	13017128	Human	1	name
156324685	CV1971701	single nucleotide variant	NM_018127.7(ELAC2):c.797+8T>C	Combined oxidative phosphorylation defect type 17 [RCV002630581]	likely benign	17	13005913	13005913	Human	1	name
156121517	CV2179480	single nucleotide variant	NM_018127.7(ELAC2):c.245+9A>G	Combined oxidative phosphorylation defect type 17 [RCV003039334]	likely benign	17	13017694	13017694	Human	1	name
156039037	CV2187777	single nucleotide variant	NM_018127.7(ELAC2):c.297-3T>A	Combined oxidative phosphorylation defect type 17 [RCV003036494]	uncertain significance	17	13016935	13016935	Human	1	name
155904412	CV2275936	single nucleotide variant	NM_018127.7(ELAC2):c.870+4A>T	Inborn genetic diseases [RCV002836990]	uncertain significance	17	13005749	13005749	Human	1	name
11350687	CV237324	single nucleotide variant	NM_018127.7(ELAC2):c.560-2A>G	Combined oxidative phosphorylation defect type 17 [RCV001088164]\|not provided [RCV000224217]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	13011784	13011784	Human	1	name
11346494	CV242591	single nucleotide variant	NM_018127.7(ELAC2):c.368-4T>A	Combined oxidative phosphorylation defect type 17 [RCV001086399]\|ELAC2-related disorder [RCV003967660]\|Prostate cancer, hereditary, 2 [RCV003316294]\|not provided [RCV000676445]\|not specified [RCV000427690]	benign\|likely benign	17	13015836	13015836	Human	2	name , alternate_id
405086817	CV2876696	single nucleotide variant	NM_018127.7(ELAC2):c.491-4G>T	Combined oxidative phosphorylation defect type 17 [RCV003582553]	likely benign	17	13013279	13013279	Human	1	name
405086471	CV2879404	single nucleotide variant	NM_018127.7(ELAC2):c.559+7A>G	Combined oxidative phosphorylation defect type 17 [RCV003582501]	likely benign	17	13013200	13013200	Human	1	name
405087199	CV2880459	single nucleotide variant	NM_018127.7(ELAC2):c.368-7T>A	Combined oxidative phosphorylation defect type 17 [RCV003582581]	likely benign	17	13015839	13015839	Human	1	name
405088493	CV2900372	single nucleotide variant	NM_018127.7(ELAC2):c.246-8T>C	Combined oxidative phosphorylation defect type 17 [RCV003582682]	likely benign	17	13017129	13017129	Human	1	name
405093490	CV2921240	deletion	NM_018127.7(ELAC2):c.297-5del	Combined oxidative phosphorylation defect type 17 [RCV003582990]	likely benign	17	13016937	13016937	Human	1	name
405093477	CV2921241	single nucleotide variant	NM_018127.7(ELAC2):c.297-9C>A	Combined oxidative phosphorylation defect type 17 [RCV003582991]	likely benign	17	13016941	13016941	Human	1	name
405138014	CV3155038	single nucleotide variant	NM_018127.7(ELAC2):c.297-8A>G	Combined oxidative phosphorylation defect type 17 [RCV003855276]	likely benign	17	13016940	13016940	Human	1	name
405184450	CV3156021	deletion	NM_018127.7(ELAC2):c.984-3del	Combined oxidative phosphorylation defect type 17 [RCV003859095]	likely benign	17	13003577	13003577	Human	1	name
404984469	CV3180055	single nucleotide variant	NM_018127.7(ELAC2):c.984-2A>G	Combined oxidative phosphorylation defect type 17 [RCV003880857]	likely pathogenic	17	13003576	13003576	Human	1	name
597843802	CV3736038	single nucleotide variant	NM_018127.7(ELAC2):c.739-1G>C	Combined oxidative phosphorylation defect type 17 [RCV005065386]	likely pathogenic	17	13005980	13005980	Human	1	name
597831354	CV3750914	single nucleotide variant	NM_018127.7(ELAC2):c.367+2T>C	Combined oxidative phosphorylation defect type 17 [RCV005084658]	likely pathogenic	17	13016860	13016860	Human	1	name
597968051	CV3752170	single nucleotide variant	NM_018127.7(ELAC2):c.680-6C>T	Combined oxidative phosphorylation defect type 17 [RCV005083364]	likely benign	17	13010677	13010677	Human	1	name
597926393	CV3778488	single nucleotide variant	NM_018127.7(ELAC2):c.433-5A>T	Combined oxidative phosphorylation defect type 17 [RCV005131011]	likely benign	17	13014501	13014501	Human	1	name
597938261	CV3788234	single nucleotide variant	NM_018127.7(ELAC2):c.739-4G>T	Combined oxidative phosphorylation defect type 17 [RCV005132909]	likely benign	17	13005983	13005983	Human	1	name
597973223	CV3790726	single nucleotide variant	NM_018127.7(ELAC2):c.738+1G>A	Combined oxidative phosphorylation defect type 17 [RCV005142941]	likely pathogenic	17	13010612	13010612	Human	1	name
597949370	CV3801420	single nucleotide variant	NM_018127.7(ELAC2):c.871-7T>C	Combined oxidative phosphorylation defect type 17 [RCV005135600]	likely benign	17	13005108	13005108	Human	1	name
597876498	CV3846447	single nucleotide variant	NM_018127.7(ELAC2):c.297-9C>T	Combined oxidative phosphorylation defect type 17 [RCV005177330]	likely benign	17	13016941	13016941	Human	1	name
12891848	CV401536	single nucleotide variant	NM_018127.7(ELAC2):c.432+7C>T	Combined oxidative phosphorylation defect type 17 [RCV001502234]\|not provided [RCV004705612]	likely benign	17	13015761	13015761	Human	1	name
13788749	CV550058	single nucleotide variant	NM_018127.7(ELAC2):c.983+9G>A	Combined oxidative phosphorylation defect type 17 [RCV001506180]\|ELAC2-related disorder [RCV003938026]\|not provided [RCV000676443]	likely benign	17	13004980	13004980	Human	2	name , alternate_id
15152218	CV690167	single nucleotide variant	NM_018127.7(ELAC2):c.797+9G>T	Combined oxidative phosphorylation defect type 17 [RCV002064554]	likely benign	17	13005912	13005912	Human	1	name
15161060	CV690168	single nucleotide variant	NM_018127.7(ELAC2):c.367+7A>G	Combined oxidative phosphorylation defect type 17 [RCV001399646]\|not provided [RCV003424404]	likely benign	17	13016855	13016855	Human	1	name
15154523	CV731125	single nucleotide variant	NM_018127.7(ELAC2):c.797+9G>C	Combined oxidative phosphorylation defect type 17 [RCV003581739]	likely benign	17	13005912	13005912	Human	1	name
15196320	CV776609	single nucleotide variant	NM_018127.7(ELAC2):c.798-7A>G	Combined oxidative phosphorylation defect type 17 [RCV005092830]	likely benign	17	13005832	13005832	Human	1	name
15153352	CV778446	single nucleotide variant	NM_018127.7(ELAC2):c.297-4T>C	Combined oxidative phosphorylation defect type 17 [RCV000946064]	likely benign	17	13016936	13016936	Human	1	name
26898307	CV852691	deletion	NM_018127.7(ELAC2):c.432+1del	Combined oxidative phosphorylation defect type 17 [RCV001070622]	uncertain significance	17	13015767	13015767	Human	1	name
38480997	CV940383	single nucleotide variant	NM_018127.7(ELAC2):c.245+2T>A	Combined oxidative phosphorylation defect type 17 [RCV001206642]\|not provided [RCV003223704]	pathogenic\|likely pathogenic\|uncertain significance	17	13017701	13017701	Human	1	name
38466977	CV960869	single nucleotide variant	NM_018127.7(ELAC2):c.983+6G>C	Combined oxidative phosphorylation defect type 17 [RCV001247765]	uncertain significance	17	13004983	13004983	Human	1	name
42722803	CV985349	single nucleotide variant	NM_018127.7(ELAC2):c.297-2A>T	Combined oxidative phosphorylation deficiency 17 [RCV001292739]	pathogenic	17	13016934	13016934	Human		name
126746165	CV1018233	single nucleotide variant	NM_018127.7(ELAC2):c.1908+1G>A	Combined oxidative phosphorylation defect type 17 [RCV001330819]\|Prostate cancer, hereditary, 2 [RCV003992497]	likely pathogenic	17	12994962	12994962	Human	2	name
126744959	CV1033066	single nucleotide variant	NM_018127.7(ELAC2):c.2254-5T>G	Combined oxidative phosphorylation defect type 17 [RCV001337143]	likely benign\|uncertain significance	17	12993050	12993050	Human	1	name
126914900	CV1050068	single nucleotide variant	NM_018127.7(ELAC2):c.1908+5G>A	Combined oxidative phosphorylation defect type 17 [RCV001370630]	uncertain significance	17	12994958	12994958	Human	1	name
127274671	CV1082717	single nucleotide variant	NM_018127.7(ELAC2):c.1423+8G>A	Combined oxidative phosphorylation defect type 17 [RCV001406392]	likely benign	17	13000148	13000148	Human	1	name
127244825	CV1104519	single nucleotide variant	NM_018127.7(ELAC2):c.2254-8T>C	Combined oxidative phosphorylation defect type 17 [RCV001424166]\|not provided [RCV004704543]	likely benign	17	12993053	12993053	Human	1	name
127262723	CV1104520	single nucleotide variant	NM_018127.7(ELAC2):c.2108+9G>A	Combined oxidative phosphorylation defect type 17 [RCV001428410]	likely benign	17	12994416	12994416	Human	1	name
150424015	CV1185218	single nucleotide variant	NM_018127.7(ELAC2):c.491-31A>G	not provided [RCV001556096]	likely benign	17	13013306	13013306	Human		name
150420795	CV1198890	single nucleotide variant	NM_018127.7(ELAC2):c.559+61G>A	not provided [RCV001577764]	likely benign	17	13013146	13013146	Human		name
150486774	CV1203351	deletion	NM_018127.7(ELAC2):c.246-89del	not provided [RCV001591529]	likely benign	17	13017210	13017210	Human		name
150498822	CV1235630	single nucleotide variant	NM_018127.7(ELAC2):c.680-36A>G	not provided [RCV001656313]	benign	17	13010707	13010707	Human		name
150469207	CV1243119	single nucleotide variant	NM_018127.7(ELAC2):c.679+60T>C	not provided [RCV001650638]	benign	17	13011603	13011603	Human		name
150491690	CV1267817	duplication	NM_018127.7(ELAC2):c.367+95dup	not provided [RCV001687842]	benign	17	13016745	13016746	Human		name
151841078	CV1361216	single nucleotide variant	NM_018127.7(ELAC2):c.560-10T>C	Combined oxidative phosphorylation defect type 17 [RCV001881359]	uncertain significance	17	13011792	13011792	Human	1	name
151814763	CV1382405	single nucleotide variant	NM_018127.7(ELAC2):c.1080-3C>T	Combined oxidative phosphorylation defect type 17 [RCV001992175]\|Inborn genetic diseases [RCV005331123]\|not provided [RCV004694110]	uncertain significance	17	13002582	13002582	Human	2	name
151882041	CV1395979	single nucleotide variant	NM_018127.7(ELAC2):c.1080-1G>C	Combined oxidative phosphorylation defect type 17 [RCV002037051]	likely pathogenic	17	13002580	13002580	Human	1	name
151826640	CV1400473	single nucleotide variant	NM_018127.7(ELAC2):c.1305-2A>G	Combined oxidative phosphorylation defect type 17 [RCV001976242]	likely pathogenic	17	13000276	13000276	Human	1	name
151844415	CV1408896	single nucleotide variant	NM_018127.7(ELAC2):c.1698+5G>A	Combined oxidative phosphorylation defect type 17 [RCV002015724]	uncertain significance	17	12995935	12995935	Human	1	name
151870424	CV1436781	single nucleotide variant	NM_018127.7(ELAC2):c.1908+3A>G	Combined oxidative phosphorylation defect type 17 [RCV002018863]	uncertain significance	17	12994960	12994960	Human	1	name
151740647	CV1455357	single nucleotide variant	NM_018127.7(ELAC2):c.2030-2A>G	Combined oxidative phosphorylation defect type 17 [RCV002005787]	likely pathogenic	17	12994505	12994505	Human	1	name
151784271	CV1474579	single nucleotide variant	NM_018127.7(ELAC2):c.1659+5G>A	Combined oxidative phosphorylation defect type 17 [RCV001930736]	uncertain significance	17	12996542	12996542	Human	1	name
151721357	CV1489456	single nucleotide variant	NM_018127.7(ELAC2):c.1808+4A>G	Combined oxidative phosphorylation defect type 17 [RCV001891152]	uncertain significance	17	12995699	12995699	Human	1	name
151765497	CV1495840	single nucleotide variant	NM_018127.7(ELAC2):c.1218+5T>C	Combined oxidative phosphorylation defect type 17 [RCV001873931]	uncertain significance	17	13002436	13002436	Human	1	name
151794357	CV1506116	single nucleotide variant	NM_018127.7(ELAC2):c.1659+3G>A	Combined oxidative phosphorylation defect type 17 [RCV001917122]	uncertain significance	17	12996544	12996544	Human	1	name
152095617	CV1521190	single nucleotide variant	NM_018127.7(ELAC2):c.1660-5G>A	Combined oxidative phosphorylation defect type 17 [RCV002078304]	likely benign	17	12995983	12995983	Human	1	name
152160212	CV1522807	single nucleotide variant	NM_018127.7(ELAC2):c.983+14T>A	Combined oxidative phosphorylation defect type 17 [RCV002140790]	likely benign	17	13004975	13004975	Human	1	name
152153428	CV1523030	single nucleotide variant	NM_018127.7(ELAC2):c.2030-6C>T	Combined oxidative phosphorylation defect type 17 [RCV002179798]	likely benign	17	12994509	12994509	Human	1	name
152046133	CV1526912	single nucleotide variant	NM_018127.7(ELAC2):c.559+16A>G	Combined oxidative phosphorylation defect type 17 [RCV002166291]\|not provided [RCV004706417]	likely benign	17	13013191	13013191	Human	1	name
152110176	CV1536940	single nucleotide variant	NM_018127.7(ELAC2):c.433-20A>G	Combined oxidative phosphorylation defect type 17 [RCV002215374]	likely benign	17	13014516	13014516	Human	1	name
152157114	CV1541707	single nucleotide variant	NM_018127.7(ELAC2):c.797+16A>G	Combined oxidative phosphorylation defect type 17 [RCV002103088]	likely benign	17	13005905	13005905	Human	1	name
152157923	CV1542124	single nucleotide variant	NM_018127.7(ELAC2):c.432+15A>C	Combined oxidative phosphorylation defect type 17 [RCV002202921]	likely benign	17	13015753	13015753	Human	1	name
152071807	CV1544493	deletion	NM_018127.7(ELAC2):c.1424-6del	Combined oxidative phosphorylation defect type 17 [RCV002129709]	benign	17	12998514	12998514	Human	1	name
152124950	CV1553981	single nucleotide variant	NM_018127.7(ELAC2):c.679+11A>G	Combined oxidative phosphorylation defect type 17 [RCV002098687]	likely benign	17	13011652	13011652	Human	1	name
152116751	CV1567088	deletion	NM_018127.7(ELAC2):c.2108+8del	Combined oxidative phosphorylation defect type 17 [RCV002097593]	likely benign	17	12994417	12994417	Human	1	name
152092170	CV1567735	single nucleotide variant	NM_018127.7(ELAC2):c.984-18C>A	Combined oxidative phosphorylation defect type 17 [RCV002212877]	likely benign	17	13003592	13003592	Human	1	name
152082325	CV1589554	single nucleotide variant	NM_018127.7(ELAC2):c.245+14C>T	Combined oxidative phosphorylation defect type 17 [RCV002112919]	likely benign	17	13017689	13017689	Human	1	name
152026995	CV1593767	single nucleotide variant	NM_018127.7(ELAC2):c.432+18C>T	Combined oxidative phosphorylation defect type 17 [RCV002104744]	likely benign	17	13015750	13015750	Human	1	name
152090253	CV1594024	single nucleotide variant	NM_018127.7(ELAC2):c.433-16C>T	Combined oxidative phosphorylation defect type 17 [RCV002171729]	likely benign	17	13014512	13014512	Human	1	name
152077161	CV1607237	single nucleotide variant	NM_018127.7(ELAC2):c.871-17C>T	Combined oxidative phosphorylation defect type 17 [RCV002130374]	likely benign	17	13005118	13005118	Human	1	name
152049731	CV1615185	single nucleotide variant	NM_018127.7(ELAC2):c.739-18A>G	Combined oxidative phosphorylation defect type 17 [RCV002088999]	likely benign	17	13005997	13005997	Human	1	name
152073366	CV1615414	deletion	NM_018127.7(ELAC2):c.871-11del	Combined oxidative phosphorylation defect type 17 [RCV002091893]\|not provided [RCV004774625]	likely benign\|uncertain significance	17	13005112	13005112	Human	1	name
152148770	CV1616609	single nucleotide variant	NM_018127.7(ELAC2):c.560-15A>G	Combined oxidative phosphorylation defect type 17 [RCV002201641]	likely benign	17	13011797	13011797	Human	1	name
152036287	CV1617514	single nucleotide variant	NM_018127.7(ELAC2):c.245+19C>A	Combined oxidative phosphorylation defect type 17 [RCV002125381]	likely benign	17	13017684	13017684	Human	1	name
152078674	CV1627160	single nucleotide variant	NM_018127.7(ELAC2):c.2109-9C>T	Combined oxidative phosphorylation defect type 17 [RCV002112454]	likely benign	17	12993840	12993840	Human	1	name
152049662	CV1627781	single nucleotide variant	NM_018127.7(ELAC2):c.245+17C>A	Combined oxidative phosphorylation defect type 17 [RCV002108789]	likely benign	17	13017686	13017686	Human	1	name
152176237	CV1628579	single nucleotide variant	NM_018127.7(ELAC2):c.798-13C>G	Combined oxidative phosphorylation defect type 17 [RCV002164379]	likely benign	17	13005838	13005838	Human	1	name
152139937	CV1628688	single nucleotide variant	NM_018127.7(ELAC2):c.871-20G>A	Combined oxidative phosphorylation defect type 17 [RCV002100634]	likely benign	17	13005121	13005121	Human	1	name
152124547	CV1629974	deletion	NM_018127.7(ELAC2):c.2030-3del	Combined oxidative phosphorylation defect type 17 [RCV002154693]	likely benign	17	12994506	12994506	Human	1	name
152104541	CV1633772	single nucleotide variant	NM_018127.7(ELAC2):c.739-11C>T	Combined oxidative phosphorylation defect type 17 [RCV002195979]	likely benign	17	13005990	13005990	Human	1	name
152098298	CV1639847	single nucleotide variant	NM_018127.7(ELAC2):c.368-11A>G	Combined oxidative phosphorylation defect type 17 [RCV002078647]	likely benign	17	13015843	13015843	Human	1	name
152112159	CV1640519	single nucleotide variant	NM_018127.7(ELAC2):c.559+18G>A	Combined oxidative phosphorylation defect type 17 [RCV002174472]	likely benign	17	13013189	13013189	Human	1	name
152064247	CV1652259	single nucleotide variant	NM_018127.7(ELAC2):c.559+17G>C	Combined oxidative phosphorylation defect type 17 [RCV002090663]	likely benign	17	13013190	13013190	Human	1	name
152054573	CV1665462	single nucleotide variant	NM_018127.7(ELAC2):c.1080-8C>A	Combined oxidative phosphorylation defect type 17 [RCV002089550]	likely benign	17	13002587	13002587	Human	1	name
156403439	CV1871725	single nucleotide variant	NM_018127.7(ELAC2):c.738+15C>G	Combined oxidative phosphorylation defect type 17 [RCV003052598]	likely benign	17	13010598	13010598	Human	1	name
156350132	CV1886078	single nucleotide variant	NM_018127.7(ELAC2):c.296+11C>T	Combined oxidative phosphorylation defect type 17 [RCV003090908]	likely benign	17	13017060	13017060	Human	1	name
156076113	CV1886326	single nucleotide variant	NM_018127.7(ELAC2):c.560-18G>A	Combined oxidative phosphorylation defect type 17 [RCV003079710]	uncertain significance	17	13011800	13011800	Human	1	name
156388910	CV1888415	single nucleotide variant	NM_018127.7(ELAC2):c.798-19C>T	Combined oxidative phosphorylation defect type 17 [RCV003067808]	likely benign	17	13005844	13005844	Human	1	name
156352841	CV1893405	single nucleotide variant	NM_018127.7(ELAC2):c.797+20C>T	Combined oxidative phosphorylation defect type 17 [RCV003091113]	likely benign	17	13005901	13005901	Human	1	name
155990552	CV1894298	single nucleotide variant	NM_018127.7(ELAC2):c.432+11C>T	Combined oxidative phosphorylation defect type 17 [RCV003076092]	likely benign	17	13015757	13015757	Human	1	name
156143944	CV1898745	single nucleotide variant	NM_018127.7(ELAC2):c.245+18G>T	Combined oxidative phosphorylation defect type 17 [RCV003082307]	likely benign	17	13017685	13017685	Human	1	name
156417957	CV1916919	single nucleotide variant	NM_018127.7(ELAC2):c.679+14C>G	Combined oxidative phosphorylation defect type 17 [RCV002611126]	likely benign	17	13011649	13011649	Human	1	name
156407344	CV1918085	single nucleotide variant	NM_018127.7(ELAC2):c.1423+9G>T	Combined oxidative phosphorylation defect type 17 [RCV002606867]	likely benign	17	13000147	13000147	Human	1	name
156161988	CV1933257	single nucleotide variant	NM_018127.7(ELAC2):c.1659+8T>C	Combined oxidative phosphorylation defect type 17 [RCV002624405]\|ELAC2-related disorder [RCV003906555]	likely benign	17	12996539	12996539	Human	2	name , alternate_id
156354669	CV1933336	single nucleotide variant	NM_018127.7(ELAC2):c.560-12T>C	Combined oxidative phosphorylation defect type 17 [RCV002651176]	likely benign	17	13011794	13011794	Human	1	name
156134236	CV1977189	single nucleotide variant	NM_018127.7(ELAC2):c.246-14T>C	Combined oxidative phosphorylation defect type 17 [RCV002593606]	likely benign	17	13017135	13017135	Human	1	name
156394312	CV1984362	single nucleotide variant	NM_018127.7(ELAC2):c.2030-4C>T	Combined oxidative phosphorylation defect type 17 [RCV002635311]	likely benign	17	12994507	12994507	Human	1	name
156208087	CV2000763	deletion	NM_018127.7(ELAC2):c.1809-5del	Combined oxidative phosphorylation defect type 17 [RCV002666741]	benign	17	12995067	12995067	Human	1	name
156091394	CV2016400	single nucleotide variant	NM_018127.7(ELAC2):c.1908+7G>A	Combined oxidative phosphorylation defect type 17 [RCV002706326]	likely benign	17	12994956	12994956	Human	1	name
156183653	CV2020586	single nucleotide variant	NM_018127.7(ELAC2):c.738+13T>C	Combined oxidative phosphorylation defect type 17 [RCV002710860]	likely benign	17	13010600	13010600	Human	1	name
156324657	CV2032315	duplication	NM_018127.7(ELAC2):c.1424-5dup	Combined oxidative phosphorylation defect type 17 [RCV002717330]	likely benign	17	12998512	12998513	Human	1	name
155926493	CV2041385	single nucleotide variant	NM_018127.7(ELAC2):c.871-10G>A	Combined oxidative phosphorylation defect type 17 [RCV002750953]	uncertain significance	17	13005111	13005111	Human	1	name
156291337	CV2047241	single nucleotide variant	NM_018127.7(ELAC2):c.1908+8G>A	Combined oxidative phosphorylation defect type 17 [RCV002770783]	likely benign	17	12994955	12994955	Human	1	name
156216632	CV2070687	single nucleotide variant	NM_018127.7(ELAC2):c.1520+9C>T	Combined oxidative phosphorylation defect type 17 [RCV002829522]	likely benign	17	12998403	12998403	Human	1	name
155981262	CV2078375	single nucleotide variant	NM_018127.7(ELAC2):c.246-18G>A	Combined oxidative phosphorylation defect type 17 [RCV002863780]	likely benign	17	13017139	13017139	Human	1	name
156200404	CV2080291	single nucleotide variant	NM_018127.7(ELAC2):c.432+10T>C	Combined oxidative phosphorylation defect type 17 [RCV002852445]	likely benign	17	13015758	13015758	Human	1	name
155912978	CV2081413	deletion	NM_018127.7(ELAC2):c.559+12del	Combined oxidative phosphorylation defect type 17 [RCV002858622]	likely benign	17	13013195	13013195	Human	1	name
156101507	CV2099292	single nucleotide variant	NM_018127.7(ELAC2):c.871-18G>A	Combined oxidative phosphorylation defect type 17 [RCV002913421]	likely benign	17	13005119	13005119	Human	1	name
155982998	CV2101078	single nucleotide variant	NM_018127.7(ELAC2):c.680-12G>C	Combined oxidative phosphorylation defect type 17 [RCV002882025]	likely benign	17	13010683	13010683	Human	1	name
156315458	CV2120328	single nucleotide variant	NM_018127.7(ELAC2):c.984-15C>T	Combined oxidative phosphorylation defect type 17 [RCV002962875]	likely benign	17	13003589	13003589	Human	1	name
156104084	CV2132427	single nucleotide variant	NM_018127.7(ELAC2):c.2254-9G>C	Combined oxidative phosphorylation defect type 17 [RCV003002326]	likely benign	17	12993054	12993054	Human	1	name
156024711	CV2139098	single nucleotide variant	NM_018127.7(ELAC2):c.1080-5C>T	Combined oxidative phosphorylation defect type 17 [RCV002998856]	likely benign	17	13002584	13002584	Human	1	name
155943876	CV2143161	single nucleotide variant	NM_018127.7(ELAC2):c.797+11G>C	Combined oxidative phosphorylation defect type 17 [RCV002994229]	uncertain significance	17	13005910	13005910	Human	1	name
156104403	CV2149312	single nucleotide variant	NM_018127.7(ELAC2):c.2029+5G>A	Combined oxidative phosphorylation defect type 17 [RCV003021165]	uncertain significance	17	12994759	12994759	Human	1	name
156301278	CV2149866	single nucleotide variant	NM_018127.7(ELAC2):c.1520+7T>C	Combined oxidative phosphorylation defect type 17 [RCV003028105]	likely benign	17	12998405	12998405	Human	1	name
156314093	CV2162065	single nucleotide variant	NM_018127.7(ELAC2):c.680-16G>C	Combined oxidative phosphorylation defect type 17 [RCV003028753]	likely benign	17	13010687	13010687	Human	1	name
156228179	CV2176574	duplication	NM_018127.7(ELAC2):c.1659+2dup	Combined oxidative phosphorylation defect type 17 [RCV003059202]	uncertain significance	17	12996544	12996545	Human	1	name
12907341	CV227386	single nucleotide variant	NM_018127.7(ELAC2):c.1698+1G>C	Prostate cancer, hereditary, 2 [RCV000490332]	uncertain significance	17	12995939	12995939	Human	1	name
156041895	CV2275791	single nucleotide variant	NM_018127.7(ELAC2):c.2253+1G>C	Combined oxidative phosphorylation defect type 17 [RCV005099736]\|Inborn genetic diseases [RCV002846123]	pathogenic\|uncertain significance	17	12993686	12993686	Human	2	name
11346232	CV242586	duplication	NM_018127.7(ELAC2):c.1699-8dup	Combined oxidative phosphorylation defect type 17 [RCV001522766]	benign	17	12995819	12995820	Human	1	name
11345709	CV242590	single nucleotide variant	NM_018127.7(ELAC2):c.1424-3C>T	Combined oxidative phosphorylation defect type 17 [RCV000226021]	uncertain significance	17	12998511	12998511	Human	1	name
405087610	CV2870094	single nucleotide variant	NM_018127.7(ELAC2):c.1521-2A>G	Combined oxidative phosphorylation defect type 17 [RCV003582611]	likely pathogenic	17	12996687	12996687	Human	1	name
405086293	CV2872452	single nucleotide variant	NM_018127.7(ELAC2):c.738+14T>G	Combined oxidative phosphorylation defect type 17 [RCV003582486]	likely benign	17	13010599	13010599	Human	1	name
405087873	CV2880919	single nucleotide variant	NM_018127.7(ELAC2):c.680-14G>A	Combined oxidative phosphorylation defect type 17 [RCV003582633]	likely benign	17	13010685	13010685	Human	1	name
405075064	CV2890597	single nucleotide variant	NM_018127.7(ELAC2):c.490+11G>C	Combined oxidative phosphorylation defect type 17 [RCV003581393]	likely benign	17	13014428	13014428	Human	1	name
405088007	CV2891102	duplication	NM_018127.7(ELAC2):c.1424-6dup	Combined oxidative phosphorylation defect type 17 [RCV003582642]	benign	17	12998513	12998514	Human	1	name
405088923	CV2903288	single nucleotide variant	NM_018127.7(ELAC2):c.1699-1G>A	Combined oxidative phosphorylation defect type 17 [RCV003582717]	likely pathogenic	17	12995813	12995813	Human	1	name
405080987	CV2927369	single nucleotide variant	NM_018127.7(ELAC2):c.1304+9C>T	Combined oxidative phosphorylation defect type 17 [RCV003582035]	likely benign	17	13002265	13002265	Human	1	name
405063838	CV2984710	single nucleotide variant	NM_018127.7(ELAC2):c.432+17A>C	Combined oxidative phosphorylation defect type 17 [RCV003741811]	likely benign	17	13015751	13015751	Human	1	name
405064407	CV2985625	single nucleotide variant	NM_018127.7(ELAC2):c.367+15T>C	Combined oxidative phosphorylation defect type 17 [RCV003741859]	likely benign	17	13016847	13016847	Human	1	name
405070349	CV3022679	single nucleotide variant	NM_018127.7(ELAC2):c.1908+9C>T	Combined oxidative phosphorylation defect type 17 [RCV003742322]	likely benign	17	12994954	12994954	Human	1	name
405070926	CV3026943	single nucleotide variant	NM_018127.7(ELAC2):c.1809-1G>A	Combined oxidative phosphorylation defect type 17 [RCV003742364]	likely pathogenic	17	12995063	12995063	Human	1	name
405073279	CV3053351	deletion	NM_018127.7(ELAC2):c.367+15del	Combined oxidative phosphorylation defect type 17 [RCV003742528]	likely benign	17	13016847	13016847	Human	1	name
405075350	CV3054341	single nucleotide variant	NM_018127.7(ELAC2):c.738+12T>A	Combined oxidative phosphorylation defect type 17 [RCV003742576]	likely benign	17	13010601	13010601	Human	1	name
405052573	CV3056502	single nucleotide variant	NM_018127.7(ELAC2):c.368-10T>C	Combined oxidative phosphorylation defect type 17 [RCV003740741]	likely benign	17	13015842	13015842	Human	1	name
405053803	CV3059293	deletion	NM_018127.7(ELAC2):c.432+12del	Combined oxidative phosphorylation defect type 17 [RCV003740871]	likely benign	17	13015756	13015756	Human	1	name
405053618	CV3068881	single nucleotide variant	NM_018127.7(ELAC2):c.739-20C>G	Combined oxidative phosphorylation defect type 17 [RCV003740853]	likely benign	17	13005999	13005999	Human	1	name
405054765	CV3075711	single nucleotide variant	NM_018127.7(ELAC2):c.983+17A>G	Combined oxidative phosphorylation defect type 17 [RCV003740957]	likely benign	17	13004972	13004972	Human	1	name
405055113	CV3079246	single nucleotide variant	NM_018127.7(ELAC2):c.297-14T>G	Combined oxidative phosphorylation defect type 17 [RCV003740985]	likely benign	17	13016946	13016946	Human	1	name
405139190	CV3130860	single nucleotide variant	NM_018127.7(ELAC2):c.1808+7A>G	Combined oxidative phosphorylation defect type 17 [RCV003839094]	likely benign	17	12995696	12995696	Human	1	name
405139904	CV3131113	single nucleotide variant	NM_018127.7(ELAC2):c.983+19G>A	Combined oxidative phosphorylation defect type 17 [RCV003839153]	likely benign	17	13004970	13004970	Human	1	name
405150559	CV3142010	single nucleotide variant	NM_018127.7(ELAC2):c.2029+1G>A	Combined oxidative phosphorylation defect type 17 [RCV003839932]	likely pathogenic	17	12994763	12994763	Human	1	name
405244557	CV3161524	single nucleotide variant	NM_018127.7(ELAC2):c.246-20G>C	Combined oxidative phosphorylation defect type 17 [RCV003868236]	likely benign	17	13017141	13017141	Human	1	name
405288818	CV3193821	single nucleotide variant	NM_018127.7(ELAC2):c.2254-2A>G	ELAC2-related disorder [RCV003983323]	likely pathogenic	17	12993047	12993047	Human		name , trait , alternate_id
597887995	CV3739198	single nucleotide variant	NM_018127.7(ELAC2):c.2254-6T>C	Combined oxidative phosphorylation defect type 17 [RCV005070745]	likely benign	17	12993051	12993051	Human	1	name
597857681	CV3748187	single nucleotide variant	NM_018127.7(ELAC2):c.1809-8T>C	Combined oxidative phosphorylation defect type 17 [RCV005067009]	likely benign	17	12995070	12995070	Human	1	name
12847642	CV375727	single nucleotide variant	NM_018127.7(ELAC2):c.738+17G>A	Combined oxidative phosphorylation defect type 17 [RCV002522466]\|not specified [RCV000443844]	likely benign	17	13010596	13010596	Human	1	name
597836155	CV3757634	single nucleotide variant	NM_018127.7(ELAC2):c.680-19C>G	Combined oxidative phosphorylation defect type 17 [RCV005085648]	likely benign	17	13010690	13010690	Human	1	name
597852748	CV3758604	single nucleotide variant	NM_018127.7(ELAC2):c.297-16G>A	Combined oxidative phosphorylation defect type 17 [RCV005088165]	likely benign	17	13016948	13016948	Human	1	name
12836710	CV375938	single nucleotide variant	NM_018127.7(ELAC2):c.1305-8T>C	Combined oxidative phosphorylation defect type 17 [RCV001521290]\|Prostate cancer, hereditary, 2 [RCV003316536]\|not provided [RCV000676442]\|not specified [RCV000423878]	benign	17	13000282	13000282	Human	2	name
12836058	CV375944	single nucleotide variant	NM_018127.7(ELAC2):c.798-20G>T	Combined oxidative phosphorylation defect type 17 [RCV002062296]\|Prostate cancer, hereditary, 2 [RCV003316540]\|not provided [RCV004709989]\|not specified [RCV000422748]	benign	17	13005845	13005845	Human	2	name
12833219	CV375947	single nucleotide variant	NM_018127.7(ELAC2):c.491-14T>C	Combined oxidative phosphorylation defect type 17 [RCV001662382]\|Prostate cancer, hereditary, 2 [RCV003316538]\|not provided [RCV004709981]\|not specified [RCV000418097]	benign	17	13013289	13013289	Human	2	name
597936736	CV3777716	single nucleotide variant	NM_018127.7(ELAC2):c.491-20G>C	Combined oxidative phosphorylation defect type 17 [RCV005132629]	likely benign	17	13013295	13013295	Human	1	name
12843467	CV378068	single nucleotide variant	NM_018127.7(ELAC2):c.297-11T>C	Combined oxidative phosphorylation defect type 17 [RCV001662379]\|Prostate cancer, hereditary, 2 [RCV003316533]\|not provided [RCV004709976]\|not specified [RCV000436274]	benign	17	13016943	13016943	Human	2	name
597918173	CV3789689	single nucleotide variant	NM_018127.7(ELAC2):c.246-15A>C	Combined oxidative phosphorylation defect type 17 [RCV005129784]	likely benign	17	13017136	13017136	Human	1	name
597965241	CV3792483	single nucleotide variant	NM_018127.7(ELAC2):c.491-11T>C	Combined oxidative phosphorylation defect type 17 [RCV005139850]	likely benign	17	13013286	13013286	Human	1	name
597899813	CV3796477	single nucleotide variant	NM_018127.7(ELAC2):c.1698+1G>A	Combined oxidative phosphorylation defect type 17 [RCV005152560]	likely pathogenic	17	12995939	12995939	Human	1	name
597870362	CV3799795	single nucleotide variant	NM_018127.7(ELAC2):c.296+11C>G	Combined oxidative phosphorylation defect type 17 [RCV005148209]	likely benign	17	13017060	13017060	Human	1	name
597903153	CV3804592	single nucleotide variant	NM_018127.7(ELAC2):c.983+20G>A	Combined oxidative phosphorylation defect type 17 [RCV005153027]	likely benign	17	13004969	13004969	Human	1	name
597903533	CV3804649	single nucleotide variant	NM_018127.7(ELAC2):c.1660-9C>T	Combined oxidative phosphorylation defect type 17 [RCV005153084]	likely benign	17	12995987	12995987	Human	1	name
597871564	CV3806024	single nucleotide variant	NM_018127.7(ELAC2):c.1423+1G>A	Combined oxidative phosphorylation defect type 17 [RCV005148434]	pathogenic	17	13000155	13000155	Human	1	name
597974678	CV3831783	single nucleotide variant	NM_018127.7(ELAC2):c.870+11T>C	Combined oxidative phosphorylation defect type 17 [RCV005168722]	likely benign	17	13005742	13005742	Human	1	name
597900921	CV3835336	single nucleotide variant	NM_018127.7(ELAC2):c.367+19G>A	Combined oxidative phosphorylation defect type 17 [RCV005181058]	likely benign	17	13016843	13016843	Human	1	name
597901402	CV3835455	single nucleotide variant	NM_018127.7(ELAC2):c.738+16C>T	Combined oxidative phosphorylation defect type 17 [RCV005181179]	likely benign	17	13010597	13010597	Human	1	name
597932487	CV3838038	single nucleotide variant	NM_018127.7(ELAC2):c.245+14C>A	Combined oxidative phosphorylation defect type 17 [RCV005186007]	likely benign	17	13017689	13017689	Human	1	name
597923532	CV3840002	single nucleotide variant	NM_018127.7(ELAC2):c.297-10T>G	Combined oxidative phosphorylation defect type 17 [RCV005184741]	likely benign	17	13016942	13016942	Human	1	name
597951514	CV3843324	single nucleotide variant	NM_018127.7(ELAC2):c.246-19T>C	Combined oxidative phosphorylation defect type 17 [RCV005190374]	likely benign	17	13017140	13017140	Human	1	name
597902778	CV3851495	deletion	NM_018127.7(ELAC2):c.1908+8del	Combined oxidative phosphorylation defect type 17 [RCV005202272]	benign	17	12994955	12994955	Human	1	name
597924560	CV3863118	single nucleotide variant	NM_018127.7(ELAC2):c.1659+7G>T	Combined oxidative phosphorylation defect type 17 [RCV005205606]	likely benign	17	12996540	12996540	Human	1	name
12899438	CV409831	deletion	NM_018127.7(ELAC2):c.797+14del	Combined oxidative phosphorylation defect type 17 [RCV002525916]\|not specified [RCV000480208]	benign\|likely benign	17	13005907	13005907	Human	1	name
13540342	CV505732	single nucleotide variant	NM_018127.7(ELAC2):c.2109-6C>T	not specified [RCV000614564]	likely benign	17	12993837	12993837	Human		name
13541467	CV506679	single nucleotide variant	NM_018127.7(ELAC2):c.983+15C>G	not specified [RCV000616198]	likely benign	17	13004974	13004974	Human		name
13536404	CV506681	single nucleotide variant	NM_018127.7(ELAC2):c.680-11T>G	Combined oxidative phosphorylation defect type 17 [RCV002529722]\|not provided [RCV005231165]	likely benign\|uncertain significance	17	13010682	13010682	Human	1	name
13624010	CV531079	duplication	NM_018127.7(ELAC2):c.1305-6dup	Combined oxidative phosphorylation defect type 17 [RCV001512417]	benign	17	13000279	13000280	Human	1	name
14730308	CV668677	single nucleotide variant	NM_018127.7(ELAC2):c.983+59A>T	not provided [RCV000835618]	benign	17	13004930	13004930	Human		name
14730305	CV669087	single nucleotide variant	NM_018127.7(ELAC2):c.433-43C>T	not provided [RCV000835616]	benign	17	13014539	13014539	Human		name
15146452	CV690166	single nucleotide variant	NM_018127.7(ELAC2):c.983+10G>A	Combined oxidative phosphorylation defect type 17 [RCV000866269]	likely benign	17	13004979	13004979	Human	1	name
21075584	CV797483	single nucleotide variant	NM_018127.7(ELAC2):c.2108+1G>A	not provided [RCV000996495]	uncertain significance	17	12994424	12994424	Human		name
127238223	CV1104521	single nucleotide variant	NM_018127.7(ELAC2):c.1809-10C>T	Combined oxidative phosphorylation defect type 17 [RCV001422843]	likely benign	17	12995072	12995072	Human	1	name
150339880	CV1168368	single nucleotide variant	NM_018127.7(ELAC2):c.1218+27G>A	not provided [RCV001534702]	likely benign	17	13002414	13002414	Human		name
150335546	CV1172951	single nucleotide variant	NM_018127.7(ELAC2):c.1808+26G>C	Combined oxidative phosphorylation defect type 17 [RCV001658264]\|not provided [RCV001540615]	benign	17	12995677	12995677	Human	1	name
150404897	CV1178111	single nucleotide variant	NM_018127.7(ELAC2):c.984-294C>T	not provided [RCV001544621]	likely benign	17	13003868	13003868	Human		name
150425231	CV1185213	single nucleotide variant	NM_018127.7(ELAC2):c.2108+54G>C	not provided [RCV001557738]	likely benign	17	12994371	12994371	Human		name
150426221	CV1185217	single nucleotide variant	NM_018127.7(ELAC2):c.680-169G>A	not provided [RCV001559077]	likely benign	17	13010840	13010840	Human		name
150419817	CV1195152	single nucleotide variant	NM_018127.7(ELAC2):c.984-286T>A	not provided [RCV001569848]	likely benign	17	13003860	13003860	Human		name
150421406	CV1198889	single nucleotide variant	NM_018127.7(ELAC2):c.559+168A>T	not provided [RCV001578024]	likely benign	17	13013039	13013039	Human		name
150450974	CV1205335	single nucleotide variant	NM_018127.7(ELAC2):c.679+236G>A	not provided [RCV001585235]	likely benign	17	13011427	13011427	Human		name
150452582	CV1205544	single nucleotide variant	NM_018127.7(ELAC2):c.2253+29C>T	not provided [RCV001585445]	likely benign	17	12993658	12993658	Human		name
150498307	CV1208899	single nucleotide variant	NM_018127.7(ELAC2):c.2254-36C>G	not provided [RCV001594116]	likely benign	17	12993081	12993081	Human		name
150490946	CV1210284	single nucleotide variant	NM_018127.7(ELAC2):c.984-192G>A	not provided [RCV001592566]	likely benign	17	13003766	13003766	Human		name
150512120	CV1212921	single nucleotide variant	NM_018127.7(ELAC2):c.491-170T>G	not provided [RCV001598153]	benign	17	13013445	13013445	Human		name
150438350	CV1221148	single nucleotide variant	NM_018127.7(ELAC2):c.367+117G>T	not provided [RCV001609842]	benign	17	13016745	13016745	Human		name
150434731	CV1244024	single nucleotide variant	NM_018127.7(ELAC2):c.679+146T>G	not provided [RCV001665231]	benign	17	13011517	13011517	Human		name
150510176	CV1248549	single nucleotide variant	NM_018127.7(ELAC2):c.1809-75G>T	not provided [RCV001659618]	benign	17	12995137	12995137	Human		name
150462308	CV1253354	deletion	NM_018127.7(ELAC2):c.367+116del	not provided [RCV001669683]	benign	17	13016746	13016746	Human		name
150463185	CV1253768	single nucleotide variant	NM_018127.7(ELAC2):c.738+241G>A	not provided [RCV001669810]	benign	17	13010372	13010372	Human		name
150465895	CV1255109	single nucleotide variant	NM_018127.7(ELAC2):c.490+206G>A	not provided [RCV001670282]	benign	17	13014233	13014233	Human		name
150501014	CV1256210	single nucleotide variant	NM_018127.7(ELAC2):c.490+277T>C	not provided [RCV001676834]	benign	17	13014162	13014162	Human		name
150461482	CV1270653	deletion	NM_018127.7(ELAC2):c.1304+65del	not provided [RCV001693643]	benign	17	13002209	13002209	Human		name
150492118	CV1280832	single nucleotide variant	NM_018127.7(ELAC2):c.679+148G>A	not provided [RCV001716753]	benign	17	13011515	13011515	Human		name
150501172	CV1284156	single nucleotide variant	NM_018127.7(ELAC2):c.983+102A>G	not provided [RCV001718547]	benign	17	13004887	13004887	Human		name
150554981	CV1309971	single nucleotide variant	NM_018127.7(ELAC2):c.1808+15C>T	Combined oxidative phosphorylation defect type 17 [RCV003741277]\|not provided [RCV003237708]	likely benign\|uncertain significance	17	12995688	12995688	Human	1	name
151857200	CV1408022	single nucleotide variant	NM_018127.7(ELAC2):c.2109-19C>G	Combined oxidative phosphorylation defect type 17 [RCV001883469]	likely benign\|uncertain significance	17	12993850	12993850	Human	1	name
151795974	CV1421428	single nucleotide variant	NM_018127.7(ELAC2):c.2029+10G>A	Combined oxidative phosphorylation defect type 17 [RCV001917263]	likely benign	17	12994754	12994754	Human	1	name
151824761	CV1429403	single nucleotide variant	NM_018127.7(ELAC2):c.1699-20A>G	Combined oxidative phosphorylation defect type 17 [RCV001993126]	likely benign	17	12995832	12995832	Human	1	name
151875375	CV1466779	single nucleotide variant	NM_018127.7(ELAC2):c.2029+11G>T	Combined oxidative phosphorylation defect type 17 [RCV001885791]	likely benign\|uncertain significance	17	12994753	12994753	Human	1	name
151783269	CV1474133	single nucleotide variant	NM_018127.7(ELAC2):c.1080-18G>A	Combined oxidative phosphorylation defect type 17 [RCV001875563]	likely benign\|uncertain significance	17	13002597	13002597	Human	1	name
151881704	CV1484316	single nucleotide variant	NM_018127.7(ELAC2):c.2253+16G>A	Combined oxidative phosphorylation defect type 17 [RCV001941142]	likely benign\|uncertain significance	17	12993671	12993671	Human	1	name
152082607	CV1526217	single nucleotide variant	NM_018127.7(ELAC2):c.2108+12C>T	Combined oxidative phosphorylation defect type 17 [RCV002170736]	likely benign	17	12994413	12994413	Human	1	name
152135096	CV1528238	single nucleotide variant	NM_018127.7(ELAC2):c.1698+18T>G	Combined oxidative phosphorylation defect type 17 [RCV002100006]	likely benign	17	12995922	12995922	Human	1	name
152092044	CV1528929	single nucleotide variant	NM_018127.7(ELAC2):c.1305-10C>T	Combined oxidative phosphorylation defect type 17 [RCV002094319]	likely benign	17	13000284	13000284	Human	1	name
152059876	CV1539373	single nucleotide variant	NM_018127.7(ELAC2):c.1699-16G>A	Combined oxidative phosphorylation defect type 17 [RCV002073544]	likely benign	17	12995828	12995828	Human	1	name
152101625	CV1540230	deletion	NM_018127.7(ELAC2):c.1659+13del	Combined oxidative phosphorylation defect type 17 [RCV002095607]	likely benign	17	12996534	12996534	Human	1	name
152060895	CV1540702	single nucleotide variant	NM_018127.7(ELAC2):c.1305-12C>T	Combined oxidative phosphorylation defect type 17 [RCV002110100]	likely benign	17	13000286	13000286	Human	1	name
152161061	CV1555256	single nucleotide variant	NM_018127.7(ELAC2):c.1423+13C>T	Combined oxidative phosphorylation defect type 17 [RCV002103802]	likely benign	17	13000143	13000143	Human	1	name
152157786	CV1564255	single nucleotide variant	NM_018127.7(ELAC2):c.1424-17C>T	Combined oxidative phosphorylation defect type 17 [RCV002140396]	likely benign	17	12998525	12998525	Human	1	name
152063593	CV1575200	single nucleotide variant	NM_018127.7(ELAC2):c.1080-20C>T	Combined oxidative phosphorylation defect type 17 [RCV002110437]	likely benign	17	13002599	13002599	Human	1	name
152145361	CV1582655	single nucleotide variant	NM_018127.7(ELAC2):c.1908+16G>T	Combined oxidative phosphorylation defect type 17 [RCV002201156]	likely benign	17	12994947	12994947	Human	1	name
152065659	CV1583486	single nucleotide variant	NM_018127.7(ELAC2):c.1304+13T>C	Combined oxidative phosphorylation defect type 17 [RCV002110752]	likely benign	17	13002261	13002261	Human	1	name
152141689	CV1588539	single nucleotide variant	NM_018127.7(ELAC2):c.1699-15C>A	Combined oxidative phosphorylation defect type 17 [RCV002200656]	likely benign	17	12995827	12995827	Human	1	name
152044360	CV1588555	deletion	NM_018127.7(ELAC2):c.1808+14del	Combined oxidative phosphorylation defect type 17 [RCV002188657]	likely benign	17	12995689	12995689	Human	1	name
152153526	CV1592074	single nucleotide variant	NM_018127.7(ELAC2):c.1080-19C>T	Combined oxidative phosphorylation defect type 17 [RCV002102591]	likely benign	17	13002598	13002598	Human	1	name
152037535	CV1596328	single nucleotide variant	NM_018127.7(ELAC2):c.1660-10T>C	Combined oxidative phosphorylation defect type 17 [RCV002125591]	likely benign	17	12995988	12995988	Human	1	name
152096645	CV1599753	single nucleotide variant	NM_018127.7(ELAC2):c.1080-12G>A	Combined oxidative phosphorylation defect type 17 [RCV002151285]	likely benign	17	13002591	13002591	Human	1	name
152118440	CV1602572	single nucleotide variant	NM_018127.7(ELAC2):c.1080-17G>C	Combined oxidative phosphorylation defect type 17 [RCV002117519]	likely benign	17	13002596	13002596	Human	1	name
152164128	CV1604989	single nucleotide variant	NM_018127.7(ELAC2):c.1699-19C>G	Combined oxidative phosphorylation defect type 17 [RCV002203973]	likely benign	17	12995831	12995831	Human	1	name
152113538	CV1605888	single nucleotide variant	NM_018127.7(ELAC2):c.1304+15G>C	Combined oxidative phosphorylation defect type 17 [RCV002116875]	likely benign	17	13002259	13002259	Human	1	name
152148649	CV1616579	single nucleotide variant	NM_018127.7(ELAC2):c.2254-11G>A	Combined oxidative phosphorylation defect type 17 [RCV002201624]	likely benign	17	12993056	12993056	Human	1	name
152092707	CV1631849	single nucleotide variant	NM_018127.7(ELAC2):c.1424-16A>G	Combined oxidative phosphorylation defect type 17 [RCV002132242]	benign	17	12998524	12998524	Human	1	name
152160425	CV1642478	single nucleotide variant	NM_018127.7(ELAC2):c.1079+13G>C	Combined oxidative phosphorylation defect type 17 [RCV002103693]	likely benign	17	13003466	13003466	Human	1	name
152170224	CV1650956	single nucleotide variant	NM_018127.7(ELAC2):c.1660-17T>G	Combined oxidative phosphorylation defect type 17 [RCV002143049]	likely benign	17	12995995	12995995	Human	1	name
152173763	CV1655895	single nucleotide variant	NM_018127.7(ELAC2):c.1218+16G>A	Combined oxidative phosphorylation defect type 17 [RCV002184284]	likely benign	17	13002425	13002425	Human	1	name
152119820	CV1659308	single nucleotide variant	NM_018127.7(ELAC2):c.1218+20C>T	Combined oxidative phosphorylation defect type 17 [RCV002175419]	likely benign	17	13002421	13002421	Human	1	name
156158374	CV1872115	single nucleotide variant	NM_018127.7(ELAC2):c.1305-12C>G	Combined oxidative phosphorylation defect type 17 [RCV003056800]	likely benign	17	13000286	13000286	Human	1	name
156149921	CV1878896	single nucleotide variant	NM_018127.7(ELAC2):c.1424-12A>G	Combined oxidative phosphorylation defect type 17 [RCV003056493]	likely benign	17	12998520	12998520	Human	1	name
156197396	CV1885904	single nucleotide variant	NM_018127.7(ELAC2):c.1219-12T>C	Combined oxidative phosphorylation defect type 17 [RCV003084088]	likely benign	17	13002371	13002371	Human	1	name
156076328	CV1886351	single nucleotide variant	NM_018127.7(ELAC2):c.1909-14C>T	Combined oxidative phosphorylation defect type 17 [RCV003079717]	likely benign	17	12994898	12994898	Human	1	name
156195036	CV1889517	single nucleotide variant	NM_018127.7(ELAC2):c.1079+19C>T	Combined oxidative phosphorylation defect type 17 [RCV003084003]	likely benign\|uncertain significance	17	13003460	13003460	Human	1	name
156406111	CV1894726	single nucleotide variant	NM_018127.7(ELAC2):c.2253+15C>T	Combined oxidative phosphorylation defect type 17 [RCV003070235]	likely benign	17	12993672	12993672	Human	1	name
156269998	CV1915237	single nucleotide variant	NM_018127.7(ELAC2):c.2254-14A>G	Combined oxidative phosphorylation defect type 17 [RCV002628058]	likely benign	17	12993059	12993059	Human	1	name
156180368	CV1924441	single nucleotide variant	NM_018127.7(ELAC2):c.1659+12G>C	Combined oxidative phosphorylation defect type 17 [RCV002625019]	likely benign	17	12996535	12996535	Human	1	name
156448449	CV1950728	single nucleotide variant	NM_018127.7(ELAC2):c.1809-14T>G	Combined oxidative phosphorylation defect type 17 [RCV003120011]	likely benign	17	12995076	12995076	Human	1	name
156079605	CV1975755	single nucleotide variant	NM_018127.7(ELAC2):c.1699-15C>G	Combined oxidative phosphorylation defect type 17 [RCV002621499]	likely benign	17	12995827	12995827	Human	1	name
156134322	CV1977192	single nucleotide variant	NM_018127.7(ELAC2):c.1305-14C>T	Combined oxidative phosphorylation defect type 17 [RCV002593609]	likely benign	17	13000288	13000288	Human	1	name
156394386	CV1983612	single nucleotide variant	NM_018127.7(ELAC2):c.1909-11C>T	Combined oxidative phosphorylation defect type 17 [RCV002604991]	likely benign	17	12994895	12994895	Human	1	name
155996389	CV1986920	single nucleotide variant	NM_018127.7(ELAC2):c.1080-19C>G	Combined oxidative phosphorylation defect type 17 [RCV002618250]	likely benign	17	13002598	13002598	Human	1	name
156379568	CV1997738	single nucleotide variant	NM_018127.7(ELAC2):c.1660-10T>G	Combined oxidative phosphorylation defect type 17 [RCV002653564]	likely benign	17	12995988	12995988	Human	1	name
156352467	CV2015398	single nucleotide variant	NM_018127.7(ELAC2):c.2030-11T>C	Combined oxidative phosphorylation defect type 17 [RCV002720284]	uncertain significance	17	12994514	12994514	Human	1	name
156156997	CV2049346	single nucleotide variant	NM_018127.7(ELAC2):c.1423+11G>T	Combined oxidative phosphorylation defect type 17 [RCV002801488]	likely benign	17	13000145	13000145	Human	1	name
156225780	CV2081093	single nucleotide variant	NM_018127.7(ELAC2):c.2029+19A>C	Combined oxidative phosphorylation defect type 17 [RCV002853382]	likely benign	17	12994745	12994745	Human	1	name
156080924	CV2098662	single nucleotide variant	NM_018127.7(ELAC2):c.2253+20A>G	Combined oxidative phosphorylation defect type 17 [RCV002912700]	likely benign	17	12993667	12993667	Human	1	name
156127684	CV2104257	single nucleotide variant	NM_018127.7(ELAC2):c.1908+20G>A	Combined oxidative phosphorylation defect type 17 [RCV002914425]	likely benign	17	12994943	12994943	Human	1	name
156104756	CV2107935	single nucleotide variant	NM_018127.7(ELAC2):c.1305-20G>A	Combined oxidative phosphorylation defect type 17 [RCV002927180]	likely benign	17	13000294	13000294	Human	1	name
156046957	CV2144222	single nucleotide variant	NM_018127.7(ELAC2):c.1809-19A>G	Combined oxidative phosphorylation defect type 17 [RCV002999740]	likely benign	17	12995081	12995081	Human	1	name
405086151	CV2875680	single nucleotide variant	NM_018127.7(ELAC2):c.1079+20G>A	Combined oxidative phosphorylation defect type 17 [RCV003582475]	likely benign	17	13003459	13003459	Human	1	name
405086622	CV2876002	single nucleotide variant	NM_018127.7(ELAC2):c.2109-15G>A	Combined oxidative phosphorylation defect type 17 [RCV003582513]	likely benign	17	12993846	12993846	Human	1	name
405072753	CV2892810	single nucleotide variant	NM_018127.7(ELAC2):c.2254-13T>C	Combined oxidative phosphorylation defect type 17 [RCV003581234]	likely benign	17	12993058	12993058	Human	1	name
405081092	CV2924036	single nucleotide variant	NM_018127.7(ELAC2):c.1423+19A>G	Combined oxidative phosphorylation defect type 17 [RCV003582047]	likely benign	17	13000137	13000137	Human	1	name
405081126	CV2933193	deletion	NM_018127.7(ELAC2):c.2030-18del	Combined oxidative phosphorylation defect type 17 [RCV003582050]	likely benign	17	12994521	12994521	Human	1	name
405062392	CV2964734	single nucleotide variant	NM_018127.7(ELAC2):c.1218+19C>T	Combined oxidative phosphorylation defect type 17 [RCV003741685]	likely benign	17	13002422	13002422	Human	1	name
405070338	CV3022618	single nucleotide variant	NM_018127.7(ELAC2):c.1080-20C>A	Combined oxidative phosphorylation defect type 17 [RCV003742321]	likely benign	17	13002599	13002599	Human	1	name
405072532	CV3038853	single nucleotide variant	NM_018127.7(ELAC2):c.2030-12C>T	Combined oxidative phosphorylation defect type 17 [RCV003742475]	likely benign	17	12994515	12994515	Human	1	name
405073647	CV3054073	single nucleotide variant	NM_018127.7(ELAC2):c.1659+12G>T	Combined oxidative phosphorylation defect type 17 [RCV003742553]	likely benign	17	12996535	12996535	Human	1	name
405053666	CV3065229	duplication	NM_018127.7(ELAC2):c.1080-16dup	Combined oxidative phosphorylation defect type 17 [RCV003740857]	likely benign	17	13002594	13002595	Human	1	name
405053815	CV3069566	single nucleotide variant	NM_018127.7(ELAC2):c.1659+20A>G	Combined oxidative phosphorylation defect type 17 [RCV003740872]	likely benign	17	12996527	12996527	Human	1	name
405056548	CV3077398	single nucleotide variant	NM_018127.7(ELAC2):c.1304+15G>A	Combined oxidative phosphorylation defect type 17 [RCV003741095]	likely benign	17	13002259	13002259	Human	1	name
405199851	CV3164514	single nucleotide variant	NM_018127.7(ELAC2):c.2109-18T>C	Combined oxidative phosphorylation defect type 17 [RCV003860571]	likely benign	17	12993849	12993849	Human	1	name
597890366	CV3739363	single nucleotide variant	NM_018127.7(ELAC2):c.1218+11A>T	Combined oxidative phosphorylation defect type 17 [RCV005070910]	likely benign	17	13002430	13002430	Human	1	name
597890014	CV3739475	single nucleotide variant	NM_018127.7(ELAC2):c.1080-16G>C	Combined oxidative phosphorylation defect type 17 [RCV005071022]	likely benign	17	13002595	13002595	Human	1	name
597882232	CV3745030	single nucleotide variant	NM_018127.7(ELAC2):c.1218+20C>A	Combined oxidative phosphorylation defect type 17 [RCV005070055]	likely benign	17	13002421	13002421	Human	1	name
597966607	CV3751621	single nucleotide variant	NM_018127.7(ELAC2):c.2253+15C>A	Combined oxidative phosphorylation defect type 17 [RCV005082991]	likely benign	17	12993672	12993672	Human	1	name
12846301	CV375711	single nucleotide variant	NM_018127.7(ELAC2):c.2109-17C>G	Combined oxidative phosphorylation defect type 17 [RCV002062558]\|not specified [RCV000441390]	likely benign	17	12993848	12993848	Human	1	name
12846163	CV375725	single nucleotide variant	NM_018127.7(ELAC2):c.1304+17A>T	Combined oxidative phosphorylation defect type 17 [RCV001662381]\|Prostate cancer, hereditary, 2 [RCV003316535]\|not provided [RCV004709978]\|not specified [RCV000441136]	benign	17	13002257	13002257	Human	2	name
597944821	CV3758434	single nucleotide variant	NM_018127.7(ELAC2):c.2030-15G>T	Combined oxidative phosphorylation defect type 17 [RCV005078253]	likely benign	17	12994518	12994518	Human	1	name
12839372	CV375942	single nucleotide variant	NM_018127.7(ELAC2):c.1218+15C>T	Combined oxidative phosphorylation defect type 17 [RCV001662380]\|Prostate cancer, hereditary, 2 [RCV003316534]\|not provided [RCV004709977]\|not specified [RCV000428697]	benign	17	13002426	13002426	Human	2	name
597938755	CV3760006	single nucleotide variant	NM_018127.7(ELAC2):c.2254-12T>C	Combined oxidative phosphorylation defect type 17 [RCV005076929]	likely benign	17	12993057	12993057	Human	1	name
12842389	CV378056	single nucleotide variant	NM_018127.7(ELAC2):c.1908+16G>A	Combined oxidative phosphorylation defect type 17 [RCV002063349]\|not specified [RCV000434312]	likely benign	17	12994947	12994947	Human	1	name
597885828	CV3799956	single nucleotide variant	NM_018127.7(ELAC2):c.1909-16A>G	Combined oxidative phosphorylation defect type 17 [RCV005150434]	likely benign	17	12994900	12994900	Human	1	name
597971240	CV3802346	single nucleotide variant	NM_018127.7(ELAC2):c.1521-20C>T	Combined oxidative phosphorylation defect type 17 [RCV005141943]	likely benign	17	12996705	12996705	Human	1	name
597873779	CV3805514	single nucleotide variant	NM_018127.7(ELAC2):c.1699-12T>G	Combined oxidative phosphorylation defect type 17 [RCV005148792]	likely benign	17	12995824	12995824	Human	1	name
597960216	CV3811463	single nucleotide variant	NM_018127.7(ELAC2):c.1080-16G>A	Combined oxidative phosphorylation defect type 17 [RCV005163309]	likely benign	17	13002595	13002595	Human	1	name
597950922	CV3815247	single nucleotide variant	NM_018127.7(ELAC2):c.1219-17T>C	Combined oxidative phosphorylation defect type 17 [RCV005161197]	likely benign	17	13002376	13002376	Human	1	name
597942808	CV3816326	deletion	NM_018127.7(ELAC2):c.1909-20del	Combined oxidative phosphorylation defect type 17 [RCV005159387]	likely benign	17	12994904	12994904	Human	1	name
597889353	CV3839608	single nucleotide variant	NM_018127.7(ELAC2):c.1218+11A>G	Combined oxidative phosphorylation defect type 17 [RCV005179500]	likely benign	17	13002430	13002430	Human	1	name
597916259	CV3845686	single nucleotide variant	NM_018127.7(ELAC2):c.2254-16C>G	Combined oxidative phosphorylation defect type 17 [RCV005183481]	likely benign	17	12993061	12993061	Human	1	name
597944630	CV3847929	single nucleotide variant	NM_018127.7(ELAC2):c.1521-16C>G	Combined oxidative phosphorylation defect type 17 [RCV005188659]	likely benign	17	12996701	12996701	Human	1	name
597936584	CV3852222	deletion	NM_018127.7(ELAC2):c.1304+15del	Combined oxidative phosphorylation defect type 17 [RCV005186819]	likely benign	17	13002259	13002259	Human	1	name
597948547	CV3852521	single nucleotide variant	NM_018127.7(ELAC2):c.2253+15C>G	Combined oxidative phosphorylation defect type 17 [RCV005189599]	likely benign	17	12993672	12993672	Human	1	name
597870379	CV3855185	single nucleotide variant	NM_018127.7(ELAC2):c.1079+16C>T	Combined oxidative phosphorylation defect type 17 [RCV005197350]	likely benign	17	13003463	13003463	Human	1	name
597931560	CV3863244	single nucleotide variant	NM_018127.7(ELAC2):c.1660-18C>T	Combined oxidative phosphorylation defect type 17 [RCV005206770]	likely benign	17	12995996	12995996	Human	1	name
12899152	CV409832	duplication	NM_018127.7(ELAC2):c.-69_-46dup	not specified [RCV000479552]	likely benign	17	13017992	13017993	Human		name
13533409	CV505734	single nucleotide variant	NM_018127.7(ELAC2):c.2108+14G>A	Combined oxidative phosphorylation defect type 17 [RCV002062860]\|not specified [RCV000601655]	benign	17	12994411	12994411	Human	1	name
13541903	CV505922	single nucleotide variant	NM_018127.7(ELAC2):c.2108+13G>A	Combined oxidative phosphorylation defect type 17 [RCV003581691]\|not specified [RCV000616800]	likely benign	17	12994412	12994412	Human	1	name
14730309	CV667755	single nucleotide variant	NM_018127.7(ELAC2):c.984-132C>T	not provided [RCV000835619]	benign	17	13003706	13003706	Human		name
14735619	CV667757	single nucleotide variant	NM_018127.7(ELAC2):c.984-237T>G	not provided [RCV000838093]	benign	17	13003811	13003811	Human		name
14723085	CV667759	single nucleotide variant	NM_018127.7(ELAC2):c.560-293G>A	not provided [RCV000832377]	likely benign	17	13012075	13012075	Human		name
14730306	CV667768	single nucleotide variant	NM_018127.7(ELAC2):c.559+136G>A	not provided [RCV000835617]	benign	17	13013071	13013071	Human		name
14745716	CV667773	single nucleotide variant	NM_018127.7(ELAC2):c.433-296T>C	not provided [RCV000843669]	benign	17	13014792	13014792	Human		name
14730315	CV668654	single nucleotide variant	NM_018127.7(ELAC2):c.2108+73G>A	not provided [RCV000835621]	benign	17	12994352	12994352	Human		name
14730916	CV668663	single nucleotide variant	NM_018127.7(ELAC2):c.1079+91C>T	not provided [RCV000835890]	likely benign	17	13003388	13003388	Human		name
14728658	CV668672	single nucleotide variant	NM_018127.7(ELAC2):c.1079+72G>C	not provided [RCV000834874]	benign	17	13003407	13003407	Human		name
14736876	CV668674	single nucleotide variant	NM_018127.7(ELAC2):c.984-237T>C	not provided [RCV000838686]	benign	17	13003811	13003811	Human		name
14745717	CV668685	single nucleotide variant	NM_018127.7(ELAC2):c.871-316A>T	not provided [RCV000843670]	benign	17	13005417	13005417	Human		name
14723205	CV668690	single nucleotide variant	NM_018127.7(ELAC2):c.739-275G>A	not provided [RCV000832428]	likely benign	17	13006254	13006254	Human		name
14726768	CV668694	single nucleotide variant	NM_018127.7(ELAC2):c.679+185C>G	not provided [RCV000834012]	benign	17	13011478	13011478	Human		name
14718956	CV668696	deletion	NM_018127.7(ELAC2):c.491-253del	not provided [RCV000830562]	benign	17	13013528	13013528	Human		name
14735617	CV668697	single nucleotide variant	NM_018127.7(ELAC2):c.433-241G>A	not provided [RCV000838092]	benign	17	13014737	13014737	Human		name
14726774	CV668815	single nucleotide variant	NM_018127.7(ELAC2):c.984-204C>G	not provided [RCV000834016]	benign	17	13003778	13003778	Human		name
14726769	CV668817	single nucleotide variant	NM_018127.7(ELAC2):c.739-208C>T	not provided [RCV000834013]	benign	17	13006187	13006187	Human		name
14745715	CV668821	single nucleotide variant	NM_018127.7(ELAC2):c.433-305T>C	not provided [RCV000843668]	benign	17	13014801	13014801	Human		name
14735814	CV668822	single nucleotide variant	NM_018127.7(ELAC2):c.245+238C>T	not provided [RCV000838189]	likely benign	17	13017465	13017465	Human		name
14730312	CV669079	single nucleotide variant	NM_018127.7(ELAC2):c.1520+41C>T	not provided [RCV000835620]	benign	17	12998371	12998371	Human		name
14730556	CV669089	single nucleotide variant	NM_018127.7(ELAC2):c.432+105C>T	not provided [RCV000835738]	benign	17	13015663	13015663	Human		name
150333124	CV1169712	deletion	NM_018127.7(ELAC2):c.1080-236del	not provided [RCV001537172]	benign	17	13002815	13002815	Human		name
150419519	CV1181475	single nucleotide variant	NM_018127.7(ELAC2):c.2109-201C>G	not provided [RCV001551098]	likely benign	17	12994032	12994032	Human		name
150424847	CV1185215	duplication	NM_018127.7(ELAC2):c.1521-274dup	not provided [RCV001557206]	likely benign	17	12996942	12996943	Human		name
150429217	CV1188479	single nucleotide variant	NM_018127.7(ELAC2):c.2253+317G>A	not provided [RCV001563303]	likely benign	17	12993370	12993370	Human		name
150427884	CV1188480	single nucleotide variant	NM_018127.7(ELAC2):c.1423+116T>C	not provided [RCV001561518]	likely benign	17	13000040	13000040	Human		name
150407124	CV1191910	single nucleotide variant	NM_018127.7(ELAC2):c.1659+116T>G	not provided [RCV001564920]	likely benign	17	12996431	12996431	Human		name
150405551	CV1191911	single nucleotide variant	NM_018127.7(ELAC2):c.1080-257A>G	not provided [RCV001564333]	likely benign	17	13002836	13002836	Human		name
150412234	CV1191912	single nucleotide variant	NM_018127.7(ELAC2):c.1080-276G>A	not provided [RCV001566879]	likely benign	17	13002855	13002855	Human		name
150416522	CV1198887	single nucleotide variant	NM_018127.7(ELAC2):c.1660-263A>G	not provided [RCV001575911]	likely benign	17	12996241	12996241	Human		name
150420233	CV1198888	single nucleotide variant	NM_018127.7(ELAC2):c.1304+212C>T	not provided [RCV001577522]	likely benign	17	13002062	13002062	Human		name
150459620	CV1202948	single nucleotide variant	NM_018127.7(ELAC2):c.1423+167G>T	not provided [RCV001586601]	likely benign	17	12999989	12999989	Human		name
150467738	CV1207145	single nucleotide variant	NM_018127.7(ELAC2):c.1080-177C>T	not provided [RCV001587937]	likely benign	17	13002756	13002756	Human		name
150470963	CV1209440	single nucleotide variant	NM_018127.7(ELAC2):c.1423+208G>A	not provided [RCV001588551]	likely benign	17	12999948	12999948	Human		name
150483049	CV1210068	single nucleotide variant	NM_018127.7(ELAC2):c.1809-150T>C	not provided [RCV001590767]	likely benign	17	12995212	12995212	Human		name
150490982	CV1210290	single nucleotide variant	NM_018127.7(ELAC2):c.1659+258A>G	not provided [RCV001592572]	likely benign	17	12996289	12996289	Human		name
150447766	CV1216163	single nucleotide variant	NM_018127.7(ELAC2):c.2253+171C>G	not provided [RCV001611461]	benign	17	12993516	12993516	Human		name
150485294	CV1222967	single nucleotide variant	NM_018127.7(ELAC2):c.2109-145T>G	not provided [RCV001617679]	benign	17	12993976	12993976	Human		name
150493605	CV1225697	single nucleotide variant	NM_018127.7(ELAC2):c.1305-225G>A	not provided [RCV001619213]	benign	17	13000499	13000499	Human		name
150468531	CV1243012	single nucleotide variant	NM_018127.7(ELAC2):c.1424-284C>A	not provided [RCV001650530]	benign	17	12998792	12998792	Human		name
150451288	CV1261526	single nucleotide variant	NM_018127.7(ELAC2):c.2254-211G>A	not provided [RCV001680728]	benign	17	12993256	12993256	Human		name
150495763	CV1272713	single nucleotide variant	NM_018127.7(ELAC2):c.1659+138T>C	not provided [RCV001688636]	benign	17	12996409	12996409	Human		name
150453826	CV1276902	deletion	NM_018127.7(ELAC2):c.1521-258del	not provided [RCV001708692]	benign	17	12996943	12996943	Human		name
150455207	CV1277828	single nucleotide variant	NM_018127.7(ELAC2):c.1809-252C>T	not provided [RCV001708938]	benign	17	12995314	12995314	Human		name
150495890	CV1283098	single nucleotide variant	NM_018127.7(ELAC2):c.1808+229T>C	not provided [RCV001717490]	benign	17	12995474	12995474	Human		name
14735622	CV668659	single nucleotide variant	NM_018127.7(ELAC2):c.1423+239C>T	not provided [RCV000838094]	benign	17	12999917	12999917	Human		name
14726763	CV668792	single nucleotide variant	NM_018127.7(ELAC2):c.2254-191G>A	not provided [RCV000834010]	benign	17	12993236	12993236	Human	1	name
14726763	CV668792	single nucleotide variant	NM_018127.7(ELAC2):c.2254-191G>A	not provided [RCV000834010]	benign	17	12993236	12993237	Human	1	name
14709163	CV668795	duplication	NM_018127.7(ELAC2):c.1520+182dup	not provided [RCV000834017]	benign	17	12998227	12998228	Human		name
14745721	CV668798	single nucleotide variant	NM_018127.7(ELAC2):c.1423+308C>T	not provided [RCV000843674]	benign	17	12999848	12999848	Human		name
14735818	CV668806	single nucleotide variant	NM_018127.7(ELAC2):c.1423+152T>C	not provided [RCV000838191]	likely benign	17	13000004	13000004	Human		name
14745719	CV668808	single nucleotide variant	NM_018127.7(ELAC2):c.1305-337G>A	not provided [RCV000843672]	benign	17	13000611	13000611	Human		name
14745718	CV668811	single nucleotide variant	NM_018127.7(ELAC2):c.1080-326T>C	not provided [RCV000843671]	benign	17	13002905	13002905	Human		name
14735625	CV669073	single nucleotide variant	NM_018127.7(ELAC2):c.1808+233G>C	not provided [RCV000838095]	benign	17	12995470	12995470	Human		name
597928143	CV3841097	microsatellite	NM_018127.7(ELAC2):c.1521-24CT[2]	Combined oxidative phosphorylation defect type 17 [RCV005185375]	likely benign	17	12996704	12996705	Human		name
12899186	CV409828	microsatellite	NM_018127.7(ELAC2):c.1305-16CT[6]	not provided [RCV001704605]	likely benign	17	13000282	13000283	Human		name
127328053	CV1125933	duplication	NM_018127.7(ELAC2):c.296+3_296+6dup	Combined oxidative phosphorylation defect type 17 [RCV001469409]	likely benign	17	13017064	13017065	Human	1	name
127294440	CV1157905	single nucleotide variant	NM_018127.7(ELAC2):c.9G>C (p.Ala3=)	Combined oxidative phosphorylation defect type 17 [RCV001511747]	benign	17	13017939	13017939	Human	1	name
156241344	CV1996376	single nucleotide variant	NM_018127.7(ELAC2):c.9G>T (p.Ala3=)	Combined oxidative phosphorylation defect type 17 [RCV002667937]	likely benign	17	13017939	13017939	Human	1	name
156165436	CV2091736	deletion	NM_018127.7(ELAC2):c.2109-6_2111del	Combined oxidative phosphorylation defect type 17 [RCV002891155]	likely pathogenic	17	12993829	12993837	Human	1	name
405072761	CV3036881	microsatellite	NM_018127.7(ELAC2):c.797+8_797+9del	Combined oxidative phosphorylation defect type 17 [RCV003742490]	likely benign	17	13005912	13005913	Human		name
156171664	CV2075601	single nucleotide variant	NM_018127.7(ELAC2):c.12T>C (p.Leu4=)	Combined oxidative phosphorylation defect type 17 [RCV002851550]	likely benign	17	13017936	13017936	Human	1	name
405090519	CV2915650	deletion	NM_018127.7(ELAC2):c.739-13_739-9del	Combined oxidative phosphorylation defect type 17 [RCV003582841]	uncertain significance	17	13005988	13005992	Human	1	name
597898746	CV3740860	single nucleotide variant	NM_018127.7(ELAC2):c.27G>A (p.Arg9=)	Combined oxidative phosphorylation defect type 17 [RCV005072023]	likely benign	17	13017921	13017921	Human	1	name
15189516	CV703965	single nucleotide variant	NM_018127.7(ELAC2):c.24G>A (p.Leu8=)	Combined oxidative phosphorylation defect type 17 [RCV001451585]	likely benign	17	13017924	13017924	Human	1	name
15164698	CV755608	single nucleotide variant	NM_018127.7(ELAC2):c.22C>T (p.Leu8=)	Combined oxidative phosphorylation defect type 17 [RCV001461737]	likely benign	17	13017926	13017926	Human	1	name
127277454	CV1082722	single nucleotide variant	NM_018127.7(ELAC2):c.39A>T (p.Gly13=)	Combined oxidative phosphorylation defect type 17 [RCV001407827]	likely benign	17	13017909	13017909	Human	1	name
150418391	CV1195153	duplication	NM_018127.7(ELAC2):c.491-53_491-37dup	not provided [RCV001569196]	likely benign	17	13013311	13013312	Human		name
151791844	CV1490045	single nucleotide variant	NM_018127.7(ELAC2):c.8C>T (p.Ala3Val)	Combined oxidative phosphorylation defect type 17 [RCV001952123]	uncertain significance	17	13017940	13017940	Human	1	name
152045056	CV1534604	single nucleotide variant	NM_018127.7(ELAC2):c.69G>T (p.Ser23=)	Combined oxidative phosphorylation defect type 17 [RCV002088454]	likely benign	17	13017879	13017879	Human	1	name
156131651	CV1918023	single nucleotide variant	NM_018127.7(ELAC2):c.30C>G (p.Ser10=)	Combined oxidative phosphorylation defect type 17 [RCV002623334]	likely benign	17	13017918	13017918	Human	1	name
156419236	CV1923033	single nucleotide variant	NM_018127.7(ELAC2):c.75A>C (p.Ala25=)	Combined oxidative phosphorylation defect type 17 [RCV002612456]	likely benign	17	13017873	13017873	Human	1	name
156382808	CV1972457	single nucleotide variant	NM_018127.7(ELAC2):c.33G>A (p.Ala11=)	Combined oxidative phosphorylation defect type 17 [RCV002634400]\|not provided [RCV004584976]	likely benign	17	13017915	13017915	Human	1	name
156029749	CV2088675	single nucleotide variant	NM_018127.7(ELAC2):c.87C>G (p.Arg29=)	Combined oxidative phosphorylation defect type 17 [RCV002866999]	likely benign	17	13017861	13017861	Human	1	name
156075355	CV2102193	single nucleotide variant	NM_018127.7(ELAC2):c.63C>A (p.Thr21=)	Combined oxidative phosphorylation defect type 17 [RCV002912520]	likely benign	17	13017885	13017885	Human	1	name
155992525	CV2171297	single nucleotide variant	NM_018127.7(ELAC2):c.8C>G (p.Ala3Gly)	Combined oxidative phosphorylation defect type 17 [RCV003034391]	uncertain significance	17	13017940	13017940	Human	1	name
405068294	CV3009592	microsatellite	NM_018127.7(ELAC2):c.296+13_296+14del	Combined oxidative phosphorylation defect type 17 [RCV003742180]	likely benign	17	13017057	13017058	Human		name
597889498	CV3856096	single nucleotide variant	NM_018127.7(ELAC2):c.51G>T (p.Ser17=)	Combined oxidative phosphorylation defect type 17 [RCV005200341]	likely benign	17	13017897	13017897	Human	1	name
597893515	CV3857092	single nucleotide variant	NM_018127.7(ELAC2):c.36C>A (p.Ala12=)	Combined oxidative phosphorylation defect type 17 [RCV005200955]	likely benign	17	13017912	13017912	Human	1	name
597878055	CV3860351	deletion	NM_018127.7(ELAC2):c.983+16_983+17del	Combined oxidative phosphorylation defect type 17 [RCV005198560]	likely benign	17	13004972	13004973	Human	1	name
12899868	CV409830	duplication	NM_018127.7(ELAC2):c.870+21_870+23dup	not specified [RCV000481148]	benign	17	13005729	13005730	Human		name
15133077	CV684662	single nucleotide variant	NM_018127.7(ELAC2):c.45C>T (p.Thr15=)	Combined oxidative phosphorylation defect type 17 [RCV002536252]	likely benign	17	13017903	13017903	Human	1	name
127276709	CV1082720	single nucleotide variant	NM_018127.7(ELAC2):c.156C>T (p.Ser52=)	Combined oxidative phosphorylation defect type 17 [RCV001407273]	likely benign	17	13017792	13017792	Human	1	name
127236466	CV1082721	single nucleotide variant	NM_018127.7(ELAC2):c.127C>A (p.Arg43=)	Combined oxidative phosphorylation defect type 17 [RCV001392079]	likely benign	17	13017821	13017821	Human	1	name
151831488	CV1414333	single nucleotide variant	NM_018127.7(ELAC2):c.19C>G (p.Leu7Val)	Combined oxidative phosphorylation defect type 17 [RCV001870566]\|Inborn genetic diseases [RCV004040472]	uncertain significance	17	13017929	13017929	Human	2	name
151838916	CV1415137	single nucleotide variant	NM_018127.7(ELAC2):c.222C>G (p.Leu74=)	Combined oxidative phosphorylation defect type 17 [RCV001921294]	likely benign\|uncertain significance	17	13017726	13017726	Human	1	name
152136575	CV1528496	single nucleotide variant	NM_018127.7(ELAC2):c.178C>T (p.Leu60=)	Combined oxidative phosphorylation defect type 17 [RCV002100198]	likely benign	17	13017770	13017770	Human	1	name
152109445	CV1550951	single nucleotide variant	NM_018127.7(ELAC2):c.144G>A (p.Pro48=)	Combined oxidative phosphorylation defect type 17 [RCV002152843]	likely benign	17	13017804	13017804	Human	1	name
152098319	CV1578409	single nucleotide variant	NM_018127.7(ELAC2):c.162C>G (p.Gly54=)	Combined oxidative phosphorylation defect type 17 [RCV002151484]	likely benign	17	13017786	13017786	Human	1	name
152066236	CV1601606	single nucleotide variant	NM_018127.7(ELAC2):c.132G>A (p.Glu44=)	Combined oxidative phosphorylation defect type 17 [RCV002168697]	likely benign	17	13017816	13017816	Human	1	name
152064683	CV1612319	single nucleotide variant	NM_018127.7(ELAC2):c.120G>T (p.Leu40=)	Combined oxidative phosphorylation defect type 17 [RCV002128804]\|not provided [RCV003408148]	likely benign	17	13017828	13017828	Human	1	name
152171144	CV1612840	single nucleotide variant	NM_018127.7(ELAC2):c.141A>G (p.Gly47=)	Combined oxidative phosphorylation defect type 17 [RCV002183398]	likely benign	17	13017807	13017807	Human	1	name
152096202	CV1627868	single nucleotide variant	NM_018127.7(ELAC2):c.282C>T (p.Leu94=)	Combined oxidative phosphorylation defect type 17 [RCV002194950]	likely benign	17	13017085	13017085	Human	1	name
156377036	CV1913854	single nucleotide variant	NM_018127.7(ELAC2):c.102G>A (p.Lys34=)	Combined oxidative phosphorylation defect type 17 [RCV002603667]	likely benign	17	13017846	13017846	Human	1	name
155954727	CV1915297	single nucleotide variant	NM_018127.7(ELAC2):c.294C>T (p.His98=)	Combined oxidative phosphorylation defect type 17 [RCV002616412]	likely benign	17	13017073	13017073	Human	1	name
156369424	CV2021204	single nucleotide variant	NM_018127.7(ELAC2):c.222C>T (p.Leu74=)	Combined oxidative phosphorylation defect type 17 [RCV002721413]	likely benign	17	13017726	13017726	Human	1	name
155942103	CV2034627	deletion	NM_018127.7(ELAC2):c.1305-11_1305-8del	Combined oxidative phosphorylation defect type 17 [RCV002775261]	likely benign	17	13000282	13000285	Human	1	name
156355332	CV2165796	single nucleotide variant	NM_018127.7(ELAC2):c.126G>C (p.Thr42=)	Combined oxidative phosphorylation defect type 17 [RCV003031189]	likely benign	17	13017822	13017822	Human	1	name
405070849	CV2888233	single nucleotide variant	NM_018127.7(ELAC2):c.198T>C (p.Gly66=)	Combined oxidative phosphorylation defect type 17 [RCV003581111]	likely benign	17	13017750	13017750	Human	1	name
405074080	CV2893533	single nucleotide variant	NM_018127.7(ELAC2):c.156C>A (p.Ser52=)	Combined oxidative phosphorylation defect type 17 [RCV003581326]	likely benign	17	13017792	13017792	Human	1	name
405094422	CV2923134	single nucleotide variant	NM_018127.7(ELAC2):c.174G>C (p.Val58=)	Combined oxidative phosphorylation defect type 17 [RCV003583139]	likely benign	17	13017774	13017774	Human	1	name
405092864	CV2925166	single nucleotide variant	NM_018127.7(ELAC2):c.180G>C (p.Leu60=)	Combined oxidative phosphorylation defect type 17 [RCV003583029]	likely benign	17	13017768	13017768	Human	1	name
405058987	CV2947709	single nucleotide variant	NM_018127.7(ELAC2):c.171C>G (p.Thr57=)	Combined oxidative phosphorylation defect type 17 [RCV003741411]	likely benign	17	13017777	13017777	Human	1	name
405064031	CV2985046	single nucleotide variant	NM_018127.7(ELAC2):c.159C>G (p.Gly53=)	Combined oxidative phosphorylation defect type 17 [RCV003741827]	likely benign	17	13017789	13017789	Human	1	name
405067773	CV3004934	single nucleotide variant	NM_018127.7(ELAC2):c.144G>T (p.Pro48=)	Combined oxidative phosphorylation defect type 17 [RCV003742118]	likely benign	17	13017804	13017804	Human	1	name
405068795	CV3013436	single nucleotide variant	NM_018127.7(ELAC2):c.117C>T (p.His39=)	Combined oxidative phosphorylation defect type 17 [RCV003742215]	likely benign	17	13017831	13017831	Human	1	name
405073199	CV3043185	single nucleotide variant	NM_018127.7(ELAC2):c.234C>G (p.Ser78=)	Combined oxidative phosphorylation defect type 17 [RCV003742522]	likely benign	17	13017714	13017714	Human	1	name
597957242	CV3754844	single nucleotide variant	NM_018127.7(ELAC2):c.180G>A (p.Leu60=)	Combined oxidative phosphorylation defect type 17 [RCV005080694]	likely benign	17	13017768	13017768	Human	1	name
597951926	CV3756548	single nucleotide variant	NM_018127.7(ELAC2):c.207C>T (p.Asp69=)	Combined oxidative phosphorylation defect type 17 [RCV005079605]	likely benign	17	13017741	13017741	Human	1	name
12841649	CV375729	single nucleotide variant	NM_018127.7(ELAC2):c.174G>A (p.Val58=)	Combined oxidative phosphorylation defect type 17 [RCV001084472]\|Prostate cancer, hereditary, 2 [RCV003316548]\|not provided [RCV000676446]\|not specified [RCV000432950]	benign	17	13017774	13017774	Human	2	name
597976117	CV3829121	single nucleotide variant	NM_018127.7(ELAC2):c.264A>T (p.Gly88=)	Combined oxidative phosphorylation defect type 17 [RCV005169570]	likely benign	17	13017103	13017103	Human	1	name
12880656	CV402261	single nucleotide variant	NM_018127.7(ELAC2):c.240C>T (p.Phe80=)	Combined oxidative phosphorylation defect type 17 [RCV001479468]\|ELAC2-related disorder [RCV003942548]	likely benign	17	13017708	13017708	Human	2	name , alternate_id
12900161	CV409827	indel	NM_018127.7(ELAC2):c.1305-8delinsCTCTC	Prostate cancer, hereditary, 2 [RCV002475936]\|not provided [RCV001722398]	benign\|likely benign	17	13000282	13000282	Human		name
13539426	CV505943	single nucleotide variant	NM_018127.7(ELAC2):c.291G>A (p.Glu97=)	Combined oxidative phosphorylation defect type 17 [RCV001442970]\|not provided [RCV000613254]	likely benign	17	13017076	13017076	Human	1	name
13539721	CV506684	single nucleotide variant	NM_018127.7(ELAC2):c.225C>T (p.Tyr75=)	Combined oxidative phosphorylation defect type 17 [RCV005056312]\|not specified [RCV000613669]	likely benign	17	13017723	13017723	Human	1	name
14744007	CV656401	single nucleotide variant	NM_018127.7(ELAC2):c.118C>T (p.Leu40=)	not provided [RCV000842467]	likely benign	17	13017830	13017830	Human		name
15146697	CV688742	single nucleotide variant	NM_018127.7(ELAC2):c.195G>A (p.Ala65=)	Combined oxidative phosphorylation defect type 17 [RCV001409419]\|Prostate cancer, hereditary, 2 [RCV005021269]\|not provided [RCV000866311]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	13017753	13017753	Human	2	name
15158907	CV688743	single nucleotide variant	NM_018127.7(ELAC2):c.159C>T (p.Gly53=)	Combined oxidative phosphorylation defect type 17 [RCV000868728]	likely benign	17	13017789	13017789	Human	1	name
15137619	CV688744	single nucleotide variant	NM_018127.7(ELAC2):c.120G>A (p.Leu40=)	Combined oxidative phosphorylation defect type 17 [RCV002064499]	likely benign	17	13017828	13017828	Human	1	name
15157421	CV740569	single nucleotide variant	NM_018127.7(ELAC2):c.231C>T (p.Phe77=)	not provided [RCV000902525]	likely benign	17	13017717	13017717	Human		name
15131441	CV740570	single nucleotide variant	NM_018127.7(ELAC2):c.153C>T (p.Cys51=)	Combined oxidative phosphorylation defect type 17 [RCV005092663]	likely benign	17	13017795	13017795	Human	1	name
126737236	CV1000993	single nucleotide variant	NM_018127.7(ELAC2):c.537A>C (p.Thr179=)	Combined oxidative phosphorylation defect type 17 [RCV002071870]\|not provided [RCV001311873]	likely benign	17	13013229	13013229	Human	1	name
127255390	CV1082719	single nucleotide variant	NM_018127.7(ELAC2):c.447A>G (p.Glu149=)	Combined oxidative phosphorylation defect type 17 [RCV001418732]	likely benign	17	13014482	13014482	Human	1	name
127295016	CV1146834	single nucleotide variant	NM_018127.7(ELAC2):c.600A>G (p.Pro200=)	Combined oxidative phosphorylation defect type 17 [RCV001497142]	likely benign	17	13011742	13011742	Human	1	name
151743377	CV1385727	single nucleotide variant	NM_018127.7(ELAC2):c.35C>T (p.Ala12Val)	Combined oxidative phosphorylation defect type 17 [RCV002042458]	uncertain significance	17	13017913	13017913	Human	1	name
151790702	CV1399891	single nucleotide variant	NM_018127.7(ELAC2):c.519C>T (p.Tyr173=)	Combined oxidative phosphorylation defect type 17 [RCV001916790]	likely benign	17	13013247	13013247	Human	1	name
151860009	CV1403834	single nucleotide variant	NM_018127.7(ELAC2):c.65T>C (p.Ile22Thr)	Combined oxidative phosphorylation defect type 17 [RCV001980005]	uncertain significance	17	13017883	13017883	Human	1	name
151843001	CV1408694	single nucleotide variant	NM_018127.7(ELAC2):c.29C>T (p.Ser10Phe)	Combined oxidative phosphorylation defect type 17 [RCV002015564]	uncertain significance	17	13017919	13017919	Human	1	name
151760483	CV1435022	single nucleotide variant	NM_018127.7(ELAC2):c.83G>A (p.Arg28His)	Combined oxidative phosphorylation defect type 17 [RCV001913919]	uncertain significance	17	13017865	13017865	Human	1	name
151866433	CV1446429	deletion	NM_018127.7(ELAC2):c.2253+6_2253+321del	Combined oxidative phosphorylation defect type 17 [RCV001980772]	uncertain significance	17	12993366	12993681	Human	1	name
151850263	CV1448294	single nucleotide variant	NM_018127.7(ELAC2):c.46A>G (p.Met16Val)	Combined oxidative phosphorylation defect type 17 [RCV001957885]	uncertain significance	17	13017902	13017902	Human	1	name
151759568	CV1464517	deletion	NM_018127.7(ELAC2):c.273del (p.Gln92fs)	Combined oxidative phosphorylation defect type 17 [RCV001970016]	pathogenic	17	13017094	13017094	Human	1	name
151873490	CV1470197	single nucleotide variant	NM_018127.7(ELAC2):c.66A>G (p.Ile22Met)	Combined oxidative phosphorylation defect type 17 [RCV001885570]	uncertain significance	17	13017882	13017882	Human	1	name
152114420	CV1534581	single nucleotide variant	NM_018127.7(ELAC2):c.393C>T (p.Thr131=)	Combined oxidative phosphorylation defect type 17 [RCV002097278]	likely benign	17	13015807	13015807	Human	1	name
152117674	CV1541202	single nucleotide variant	NM_018127.7(ELAC2):c.489G>A (p.Leu163=)	Combined oxidative phosphorylation defect type 17 [RCV002197618]	likely benign	17	13014440	13014440	Human	1	name
152171413	CV1544155	single nucleotide variant	NM_018127.7(ELAC2):c.357G>A (p.Gly119=)	Combined oxidative phosphorylation defect type 17 [RCV002162104]	likely benign	17	13016872	13016872	Human	1	name
152044273	CV1552313	single nucleotide variant	NM_018127.7(ELAC2):c.303G>A (p.Lys101=)	Combined oxidative phosphorylation defect type 17 [RCV002166085]	likely benign	17	13016926	13016926	Human	1	name
152072756	CV1556438	single nucleotide variant	NM_018127.7(ELAC2):c.715C>T (p.Leu239=)	Combined oxidative phosphorylation defect type 17 [RCV002111682]	likely benign	17	13010636	13010636	Human	1	name
152106629	CV1577668	single nucleotide variant	NM_018127.7(ELAC2):c.834C>T (p.Val278=)	Combined oxidative phosphorylation defect type 17 [RCV002096260]	likely benign	17	13005789	13005789	Human	1	name
152073546	CV1615457	microsatellite	NM_018127.7(ELAC2):c.2253+14_2253+15del	Combined oxidative phosphorylation defect type 17 [RCV002091917]	likely benign	17	12993672	12993673	Human		name
152174228	CV1622248	single nucleotide variant	NM_018127.7(ELAC2):c.351T>C (p.Asn117=)	Combined oxidative phosphorylation defect type 17 [RCV002184440]	likely benign	17	13016878	13016878	Human	1	name
152108181	CV1634788	single nucleotide variant	NM_018127.7(ELAC2):c.495G>A (p.Val165=)	Combined oxidative phosphorylation defect type 17 [RCV002079887]	likely benign	17	13013271	13013271	Human	1	name
152146459	CV1635496	single nucleotide variant	NM_018127.7(ELAC2):c.576A>G (p.Gly192=)	Combined oxidative phosphorylation defect type 17 [RCV002201310]	likely benign	17	13011766	13011766	Human	1	name
152073795	CV1638068	single nucleotide variant	NM_018127.7(ELAC2):c.924G>C (p.Val308=)	Combined oxidative phosphorylation defect type 17 [RCV002192145]	likely benign	17	13005048	13005048	Human	1	name
152135489	CV1638572	single nucleotide variant	NM_018127.7(ELAC2):c.582C>T (p.His194=)	Combined oxidative phosphorylation defect type 17 [RCV002083447]	likely benign	17	13011760	13011760	Human	1	name
156255887	CV1875232	single nucleotide variant	NM_018127.7(ELAC2):c.444C>G (p.Leu148=)	Combined oxidative phosphorylation defect type 17 [RCV003060188]	likely benign	17	13014485	13014485	Human	1	name
156316530	CV1879492	single nucleotide variant	NM_018127.7(ELAC2):c.975C>G (p.Thr325=)	Combined oxidative phosphorylation defect type 17 [RCV003062779]	likely benign	17	13004997	13004997	Human	1	name
156048710	CV1884264	single nucleotide variant	NM_018127.7(ELAC2):c.402A>G (p.Pro134=)	Combined oxidative phosphorylation defect type 17 [RCV003078791]	likely benign	17	13015798	13015798	Human	1	name
156151189	CV1895971	insertion	NM_018127.7(ELAC2):c.1305-8_1305-7insTC	Combined oxidative phosphorylation defect type 17 [RCV003082557]	likely benign	17	13000281	13000282	Human	1	name
156333585	CV1905779	single nucleotide variant	NM_018127.7(ELAC2):c.465T>C (p.Ser155=)	Combined oxidative phosphorylation defect type 17 [RCV003089938]	likely benign	17	13014464	13014464	Human	1	name
156408725	CV1911741	single nucleotide variant	NM_018127.7(ELAC2):c.50C>G (p.Ser17Trp)	Combined oxidative phosphorylation defect type 17 [RCV002607327]	uncertain significance	17	13017898	13017898	Human	1	name
156446021	CV1951050	single nucleotide variant	NM_018127.7(ELAC2):c.38G>A (p.Gly13Glu)	Combined oxidative phosphorylation defect type 17 [RCV003116984]	uncertain significance	17	13017910	13017910	Human	1	name
156384054	CV2001551	single nucleotide variant	NM_018127.7(ELAC2):c.53A>C (p.Gln18Pro)	Combined oxidative phosphorylation defect type 17 [RCV002653862]	uncertain significance	17	13017895	13017895	Human	1	name
156340972	CV2103155	single nucleotide variant	NM_018127.7(ELAC2):c.957C>T (p.Pro319=)	Combined oxidative phosphorylation defect type 17 [RCV002900475]	likely benign	17	13005015	13005015	Human	1	name
155949734	CV2104801	single nucleotide variant	NM_018127.7(ELAC2):c.48G>A (p.Met16Ile)	Combined oxidative phosphorylation defect type 17 [RCV002904996]	uncertain significance	17	13017900	13017900	Human	1	name
156301317	CV2104960	single nucleotide variant	NM_018127.7(ELAC2):c.720C>T (p.Val240=)	Combined oxidative phosphorylation defect type 17 [RCV002922589]	likely benign	17	13010631	13010631	Human	1	name
156232368	CV2118242	single nucleotide variant	NM_018127.7(ELAC2):c.972C>T (p.Ala324=)	Combined oxidative phosphorylation defect type 17 [RCV002958558]	likely benign	17	13005000	13005000	Human	1	name
156320294	CV2138023	single nucleotide variant	NM_018127.7(ELAC2):c.684T>C (p.Val228=)	Combined oxidative phosphorylation defect type 17 [RCV002963150]	likely benign	17	13010667	13010667	Human	1	name
155926030	CV2145077	single nucleotide variant	NM_018127.7(ELAC2):c.714C>G (p.Ser238=)	Combined oxidative phosphorylation defect type 17 [RCV003013409]	likely benign	17	13010637	13010637	Human	1	name
156048293	CV2186580	single nucleotide variant	NM_018127.7(ELAC2):c.855T>C (p.Thr285=)	Combined oxidative phosphorylation defect type 17 [RCV003036820]	likely benign	17	13005768	13005768	Human	1	name
155959947	CV2390614	single nucleotide variant	NM_018127.7(ELAC2):c.86G>T (p.Arg29Leu)	Inborn genetic diseases [RCV002753906]	uncertain significance	17	13017862	13017862	Human	1	name
401797214	CV2742029	single nucleotide variant	NM_018127.7(ELAC2):c.52C>T (p.Gln18Ter)	Combined oxidative phosphorylation defect type 17 [RCV003324205]	pathogenic	17	13017896	13017896	Human	1	name
405080006	CV2863761	single nucleotide variant	NM_018127.7(ELAC2):c.921G>C (p.Val307=)	Combined oxidative phosphorylation defect type 17 [RCV003581951]	likely benign	17	13005051	13005051	Human	1	name
405084420	CV2870496	single nucleotide variant	NM_018127.7(ELAC2):c.621C>T (p.Leu207=)	Combined oxidative phosphorylation defect type 17 [RCV003582364]	likely benign	17	13011721	13011721	Human	1	name
405084852	CV2874547	single nucleotide variant	NM_018127.7(ELAC2):c.996G>A (p.Lys332=)	Combined oxidative phosphorylation defect type 17 [RCV003582397]	likely benign	17	13003562	13003562	Human	1	name
405071640	CV2888557	single nucleotide variant	NM_018127.7(ELAC2):c.858T>C (p.His286=)	Combined oxidative phosphorylation defect type 17 [RCV003581159]	likely benign	17	13005765	13005765	Human	1	name
405058468	CV2946268	single nucleotide variant	NM_018127.7(ELAC2):c.897T>C (p.Pro299=)	Combined oxidative phosphorylation defect type 17 [RCV003741366]	likely benign	17	13005075	13005075	Human	1	name
405070855	CV3026646	single nucleotide variant	NM_018127.7(ELAC2):c.660T>C (p.Asn220=)	Combined oxidative phosphorylation defect type 17 [RCV003742358]	likely benign	17	13011682	13011682	Human	1	name
405070798	CV3029935	single nucleotide variant	NM_018127.7(ELAC2):c.828T>C (p.Ala276=)	Combined oxidative phosphorylation defect type 17 [RCV003742354]	likely benign	17	13005795	13005795	Human	1	name
405073828	CV3047471	single nucleotide variant	NM_018127.7(ELAC2):c.360C>T (p.Gly120=)	Combined oxidative phosphorylation defect type 17 [RCV003742566]	likely benign	17	13016869	13016869	Human	1	name
405052109	CV3055724	single nucleotide variant	NM_018127.7(ELAC2):c.501C>G (p.Pro167=)	Combined oxidative phosphorylation defect type 17 [RCV003740703]	likely benign	17	13013265	13013265	Human	1	name
405052655	CV3066771	single nucleotide variant	NM_018127.7(ELAC2):c.606G>A (p.Arg202=)	Combined oxidative phosphorylation defect type 17 [RCV003740747]	likely benign	17	13011736	13011736	Human	1	name
405054849	CV3075962	single nucleotide variant	NM_018127.7(ELAC2):c.792C>T (p.Leu264=)	Combined oxidative phosphorylation defect type 17 [RCV003740964]	likely benign	17	13005926	13005926	Human	1	name
405055163	CV3076127	single nucleotide variant	NM_018127.7(ELAC2):c.627A>G (p.Pro209=)	Combined oxidative phosphorylation defect type 17 [RCV003740989]	likely benign	17	13011715	13011715	Human	1	name
405078815	CV3166653	single nucleotide variant	NM_018127.7(ELAC2):c.333A>G (p.Thr111=)	Combined oxidative phosphorylation defect type 17 [RCV003851427]	likely benign	17	13016896	13016896	Human	1	name
597896093	CV3740387	single nucleotide variant	NM_018127.7(ELAC2):c.669C>T (p.His223=)	Combined oxidative phosphorylation defect type 17 [RCV005071740]	likely benign	17	13011673	13011673	Human	1	name
12846792	CV375948	single nucleotide variant	NM_018127.7(ELAC2):c.95C>G (p.Pro32Arg)	Combined oxidative phosphorylation defect type 17 [RCV000469495]\|ELAC2-related disorder [RCV003912702]\|Ovarian cancer [RCV003153570]\|not provided [RCV001697844]\|not specified [RCV004800406]	benign\|likely benign	17	13017853	13017853	Human	4	name , alternate_id
597850301	CV3761800	single nucleotide variant	NM_018127.7(ELAC2):c.441C>T (p.Tyr147=)	Combined oxidative phosphorylation defect type 17 [RCV005087896]	likely benign	17	13014488	13014488	Human	1	name
597867734	CV3803056	single nucleotide variant	NM_018127.7(ELAC2):c.747A>G (p.Leu249=)	Combined oxidative phosphorylation defect type 17 [RCV005147843]	likely benign	17	13005971	13005971	Human	1	name
597868269	CV3803303	single nucleotide variant	NM_018127.7(ELAC2):c.616A>C (p.Arg206=)	Combined oxidative phosphorylation defect type 17 [RCV005147900]	likely benign	17	13011726	13011726	Human	1	name
597928772	CV3816183	single nucleotide variant	NM_018127.7(ELAC2):c.444C>T (p.Leu148=)	Combined oxidative phosphorylation defect type 17 [RCV005156764]	likely benign	17	13014485	13014485	Human	1	name
597942206	CV3819442	single nucleotide variant	NM_018127.7(ELAC2):c.750G>A (p.Lys250=)	Combined oxidative phosphorylation defect type 17 [RCV005159252]	likely benign	17	13005968	13005968	Human	1	name
597971646	CV3833131	single nucleotide variant	NM_018127.7(ELAC2):c.876G>A (p.Leu292=)	Combined oxidative phosphorylation defect type 17 [RCV005167028]	likely benign	17	13005096	13005096	Human	1	name
597943404	CV3847668	single nucleotide variant	NM_018127.7(ELAC2):c.423T>A (p.Pro141=)	Combined oxidative phosphorylation defect type 17 [RCV005188396]	likely benign	17	13015777	13015777	Human	1	name
597936578	CV3852221	single nucleotide variant	NM_018127.7(ELAC2):c.645C>T (p.Ser215=)	Combined oxidative phosphorylation defect type 17 [RCV005186818]	likely benign	17	13011697	13011697	Human	1	name
597937884	CV3852701	duplication	NM_018127.7(ELAC2):c.2108+14_2108+16dup	Combined oxidative phosphorylation defect type 17 [RCV005187100]	likely benign	17	12994408	12994409	Human	1	name
597879596	CV3856992	single nucleotide variant	NM_018127.7(ELAC2):c.507T>G (p.Ser169=)	Combined oxidative phosphorylation defect type 17 [RCV005198792]	likely benign	17	13013259	13013259	Human	1	name
597867069	CV3857872	single nucleotide variant	NM_018127.7(ELAC2):c.936A>C (p.Pro312=)	Combined oxidative phosphorylation defect type 17 [RCV005196820]	likely benign	17	13005036	13005036	Human	1	name
598179958	CV3961508	single nucleotide variant	NM_018127.7(ELAC2):c.79G>A (p.Ala27Thr)	Inborn genetic diseases [RCV005332610]	uncertain significance	17	13017869	13017869	Human	1	name
12885517	CV401540	single nucleotide variant	NM_018127.7(ELAC2):c.387G>A (p.Lys129=)	Combined oxidative phosphorylation defect type 17 [RCV000465505]	likely benign\|uncertain significance	17	13015813	13015813	Human	1	name
12893051	CV401547	indel	NM_018127.7(ELAC2):c.297-2_297-1delinsT	Combined oxidative phosphorylation defect type 17 [RCV000472057]\|Inborn genetic diseases [RCV002525574]\|not provided [RCV000484886]	pathogenic\|likely pathogenic\|uncertain significance	17	13016933	13016934	Human		name
13503571	CV467101	single nucleotide variant	NM_018127.7(ELAC2):c.98G>T (p.Arg33Leu)	Combined oxidative phosphorylation defect type 17 [RCV000543316]\|Inborn genetic diseases [RCV004619342]\|not provided [RCV000786308]	uncertain significance	17	13017850	13017850	Human	2	name
13484301	CV467278	single nucleotide variant	NM_018127.7(ELAC2):c.82C>T (p.Arg28Cys)	Combined oxidative phosphorylation defect type 17 [RCV000530273]	uncertain significance	17	13017866	13017866	Human	1	name
13502228	CV467280	single nucleotide variant	NM_018127.7(ELAC2):c.50C>T (p.Ser17Leu)	Combined oxidative phosphorylation defect type 17 [RCV000541779]\|Ovarian cancer [RCV003153727]	benign\|uncertain significance	17	13017898	13017898	Human	3	name
13529927	CV506157	single nucleotide variant	NM_018127.7(ELAC2):c.369A>G (p.Gly123=)	Combined oxidative phosphorylation defect type 17 [RCV001396610]\|not specified [RCV000605917]	likely benign	17	13015831	13015831	Human	1	name
14709162	CV669082	deletion	NM_018127.7(ELAC2):c.871-188_871-183del	not provided [RCV000834014]	benign	17	13005284	13005289	Human		name
15121292	CV684659	single nucleotide variant	NM_018127.7(ELAC2):c.840C>T (p.Asp280=)	Combined oxidative phosphorylation defect type 17 [RCV000861839]\|not provided [RCV004808899]	likely benign	17	13005783	13005783	Human	1	name
15119429	CV684661	single nucleotide variant	NM_018127.7(ELAC2):c.651G>A (p.Ser217=)	Combined oxidative phosphorylation defect type 17 [RCV000861506]\|not provided [RCV005414544]	likely benign\|uncertain significance	17	13011691	13011691	Human	1	name
15159144	CV688740	single nucleotide variant	NM_018127.7(ELAC2):c.666A>G (p.Pro222=)	Combined oxidative phosphorylation defect type 17 [RCV002064596]	likely benign	17	13011676	13011676	Human	1	name
15154262	CV688741	single nucleotide variant	NM_018127.7(ELAC2):c.361T>C (p.Leu121=)	Combined oxidative phosphorylation defect type 17 [RCV002064567]	likely benign	17	13016868	13016868	Human	1	name
15162148	CV740568	single nucleotide variant	NM_018127.7(ELAC2):c.900A>G (p.Pro300=)	Combined oxidative phosphorylation defect type 17 [RCV002542070]	likely benign	17	13005072	13005072	Human	1	name
15115708	CV785466	single nucleotide variant	NM_018127.7(ELAC2):c.801G>A (p.Gly267=)	not provided [RCV000978459]	likely benign	17	13005822	13005822	Human		name
38491906	CV928064	single nucleotide variant	NM_018127.7(ELAC2):c.88G>T (p.Glu30Ter)	Combined oxidative phosphorylation defect type 17 [RCV001223167]\|not provided [RCV003481003]	pathogenic\|likely pathogenic\|uncertain significance	17	13017860	13017860	Human	1	name
127333198	CV1125928	single nucleotide variant	NM_018127.7(ELAC2):c.2412G>A (p.Glu804=)	Combined oxidative phosphorylation defect type 17 [RCV001472720]	likely benign	17	12992887	12992887	Human	1	name
127335243	CV1125929	single nucleotide variant	NM_018127.7(ELAC2):c.2370G>A (p.Val790=)	Combined oxidative phosphorylation defect type 17 [RCV001474124]	likely benign	17	12992929	12992929	Human	1	name
127294237	CV1125930	single nucleotide variant	NM_018127.7(ELAC2):c.2289G>C (p.Leu763=)	Combined oxidative phosphorylation defect type 17 [RCV001476749]	likely benign	17	12993010	12993010	Human	1	name
127322194	CV1125931	single nucleotide variant	NM_018127.7(ELAC2):c.1227C>T (p.Gly409=)	Combined oxidative phosphorylation defect type 17 [RCV001467486]	likely benign	17	13002351	13002351	Human	1	name
127330482	CV1146831	single nucleotide variant	NM_018127.7(ELAC2):c.2017C>T (p.Leu673=)	Combined oxidative phosphorylation defect type 17 [RCV001488182]	likely benign	17	12994776	12994776	Human	1	name
127288373	CV1146832	single nucleotide variant	NM_018127.7(ELAC2):c.1992C>T (p.Ser664=)	Combined oxidative phosphorylation defect type 17 [RCV001495196]	likely benign	17	12994801	12994801	Human	1	name
127294794	CV1146833	single nucleotide variant	NM_018127.7(ELAC2):c.1956G>A (p.Ala652=)	Combined oxidative phosphorylation defect type 17 [RCV001497072]	likely benign	17	12994837	12994837	Human	1	name
127296077	CV1157904	insertion	NM_018127.7(ELAC2):c.1305-9_1305-8insCTC	Combined oxidative phosphorylation defect type 17 [RCV001512418]	benign	17	13000282	13000283	Human	1	name
150334928	CV1166219	single nucleotide variant	NM_018127.7(ELAC2):c.1851C>T (p.Ser617=)	not provided [RCV001531258]	likely benign	17	12995020	12995020	Human		name
150554980	CV1309970	single nucleotide variant	NM_018127.7(ELAC2):c.200G>C (p.Ser67Thr)	not provided [RCV003237707]	uncertain significance	17	13017748	13017748	Human		name
151353228	CV1326227	single nucleotide variant	NM_018127.7(ELAC2):c.1401G>A (p.Ala467=)	Combined oxidative phosphorylation defect type 17 [RCV002074246]\|not provided [RCV001816193]	likely benign	17	13000178	13000178	Human	1	name
151808607	CV1337248	single nucleotide variant	NM_018127.7(ELAC2):c.134A>C (p.Lys45Thr)	Combined oxidative phosphorylation defect type 17 [RCV002028750]	uncertain significance	17	13017814	13017814	Human	1	name
151728246	CV1338832	single nucleotide variant	NM_018127.7(ELAC2):c.293A>G (p.His98Arg)	Combined oxidative phosphorylation defect type 17 [RCV002004511]	uncertain significance	17	13017074	13017074	Human	1	name
151792726	CV1341511	single nucleotide variant	NM_018127.7(ELAC2):c.151T>C (p.Cys51Arg)	Combined oxidative phosphorylation defect type 17 [RCV001866393]	uncertain significance	17	13017797	13017797	Human	1	name
151811779	CV1346810	single nucleotide variant	NM_018127.7(ELAC2):c.2220C>T (p.Ser740=)	Combined oxidative phosphorylation defect type 17 [RCV002048925]	likely benign\|uncertain significance	17	12993720	12993720	Human	1	name
151853089	CV1349199	single nucleotide variant	NM_018127.7(ELAC2):c.136C>T (p.Arg46Cys)	Combined oxidative phosphorylation defect type 17 [RCV001923057]	uncertain significance	17	13017812	13017812	Human	1	name
151873133	CV1351931	single nucleotide variant	NM_018127.7(ELAC2):c.200G>T (p.Ser67Ile)	Combined oxidative phosphorylation defect type 17 [RCV001998607]	uncertain significance	17	13017748	13017748	Human	1	name
151861186	CV1353269	single nucleotide variant	NM_018127.7(ELAC2):c.155C>A (p.Ser52Tyr)	Combined oxidative phosphorylation defect type 17 [RCV001924017]	uncertain significance	17	13017793	13017793	Human	1	name
151748785	CV1362628	single nucleotide variant	NM_018127.7(ELAC2):c.1218G>A (p.Lys406=)	Combined oxidative phosphorylation defect type 17 [RCV001968956]	uncertain significance	17	13002441	13002441	Human	1	name
151772190	CV1366532	single nucleotide variant	NM_018127.7(ELAC2):c.220C>T (p.Leu74Phe)	Combined oxidative phosphorylation defect type 17 [RCV001929632]	uncertain significance	17	13017728	13017728	Human	1	name
151874357	CV1369471	single nucleotide variant	NM_018127.7(ELAC2):c.134A>G (p.Lys45Arg)	Combined oxidative phosphorylation defect type 17 [RCV002036071]\|Inborn genetic diseases [RCV005331157]	uncertain significance	17	13017814	13017814	Human	2	name
151726643	CV1387205	single nucleotide variant	NM_018127.7(ELAC2):c.218C>A (p.Ala73Glu)	Combined oxidative phosphorylation defect type 17 [RCV001910421]	uncertain significance	17	13017730	13017730	Human	1	name
151747370	CV1398608	single nucleotide variant	NM_018127.7(ELAC2):c.1554G>A (p.Glu518=)	Combined oxidative phosphorylation defect type 17 [RCV002042886]\|ELAC2-related disorder [RCV003941246]	likely benign	17	12996652	12996652	Human	2	name , alternate_id
151882345	CV1443184	single nucleotide variant	NM_018127.7(ELAC2):c.117C>A (p.His39Gln)	Combined oxidative phosphorylation defect type 17 [RCV002037120]	uncertain significance	17	13017831	13017831	Human	1	name
151823207	CV1466249	single nucleotide variant	NM_018127.7(ELAC2):c.240C>G (p.Phe80Leu)	Combined oxidative phosphorylation defect type 17 [RCV001879416]	uncertain significance	17	13017708	13017708	Human	1	name
151809609	CV1478032	deletion	NM_018127.7(ELAC2):c.766del (p.Val256fs)	Combined oxidative phosphorylation defect type 17 [RCV001953683]	pathogenic	17	13005952	13005952	Human	1	name
151775891	CV1478844	single nucleotide variant	NM_018127.7(ELAC2):c.152G>T (p.Cys51Phe)	Combined oxidative phosphorylation defect type 17 [RCV002045689]	uncertain significance	17	13017796	13017796	Human	1	name
151815914	CV1485653	single nucleotide variant	NM_018127.7(ELAC2):c.157G>T (p.Gly53Cys)	Combined oxidative phosphorylation defect type 17 [RCV002029420]	uncertain significance	17	13017791	13017791	Human	1	name
151778048	CV1493259	single nucleotide variant	NM_018127.7(ELAC2):c.271G>A (p.Val91Ile)	Combined oxidative phosphorylation defect type 17 [RCV001915613]\|not provided [RCV003232458]	uncertain significance	17	13017096	13017096	Human	1	name
151752918	CV1501049	single nucleotide variant	NM_018127.7(ELAC2):c.2184C>G (p.Arg728=)	Combined oxidative phosphorylation defect type 17 [RCV001969378]	likely benign\|uncertain significance	17	12993756	12993756	Human	1	name
151853109	CV1502135	single nucleotide variant	NM_018127.7(ELAC2):c.259T>C (p.Cys87Arg)	Combined oxidative phosphorylation defect type 17 [RCV001937616]\|Inborn genetic diseases [RCV005330944]	uncertain significance	17	13017108	13017108	Human	2	name
151799078	CV1509283	single nucleotide variant	NM_018127.7(ELAC2):c.2010C>T (p.Cys670=)	Combined oxidative phosphorylation defect type 17 [RCV001866962]	likely benign\|uncertain significance	17	12994783	12994783	Human	1	name
152069817	CV1526739	single nucleotide variant	NM_018127.7(ELAC2):c.2418G>C (p.Gly806=)	Combined oxidative phosphorylation defect type 17 [RCV002074949]	likely benign	17	12992881	12992881	Human	1	name
152086204	CV1531683	single nucleotide variant	NM_018127.7(ELAC2):c.1617G>C (p.Leu539=)	Combined oxidative phosphorylation defect type 17 [RCV002077016]	likely benign	17	12996589	12996589	Human	1	name
152089817	CV1535700	single nucleotide variant	NM_018127.7(ELAC2):c.2166G>C (p.Leu722=)	Combined oxidative phosphorylation defect type 17 [RCV002150444]	likely benign	17	12993774	12993774	Human	1	name
152140371	CV1551373	single nucleotide variant	NM_018127.7(ELAC2):c.1266C>G (p.Leu422=)	Combined oxidative phosphorylation defect type 17 [RCV002177976]	likely benign	17	13002312	13002312	Human	1	name
152171208	CV1562167	single nucleotide variant	NM_018127.7(ELAC2):c.1986C>T (p.Val662=)	Combined oxidative phosphorylation defect type 17 [RCV002183421]	likely benign	17	12994807	12994807	Human	1	name
152082928	CV1565131	single nucleotide variant	NM_018127.7(ELAC2):c.1680G>A (p.Leu560=)	Combined oxidative phosphorylation defect type 17 [RCV002093091]	likely benign	17	12995958	12995958	Human	1	name
152067263	CV1566796	single nucleotide variant	NM_018127.7(ELAC2):c.1701A>G (p.Ala567=)	Combined oxidative phosphorylation defect type 17 [RCV002091092]	likely benign	17	12995810	12995810	Human	1	name
152103453	CV1569485	single nucleotide variant	NM_018127.7(ELAC2):c.1278G>A (p.Gln426=)	Combined oxidative phosphorylation defect type 17 [RCV002115647]	likely benign	17	13002300	13002300	Human	1	name
152138848	CV1572345	single nucleotide variant	NM_018127.7(ELAC2):c.2169C>T (p.Asn723=)	Combined oxidative phosphorylation defect type 17 [RCV002219102]	likely benign	17	12993771	12993771	Human	1	name
152086656	CV1573938	single nucleotide variant	NM_018127.7(ELAC2):c.1212C>T (p.Arg404=)	Combined oxidative phosphorylation defect type 17 [RCV002150023]	likely benign	17	13002447	13002447	Human	1	name
152114543	CV1574884	single nucleotide variant	NM_018127.7(ELAC2):c.1476C>T (p.Ile492=)	Combined oxidative phosphorylation defect type 17 [RCV002117005]	likely benign	17	12998456	12998456	Human	1	name
152163867	CV1575527	single nucleotide variant	NM_018127.7(ELAC2):c.2118C>G (p.Ser706=)	Combined oxidative phosphorylation defect type 17 [RCV002181419]	likely benign	17	12993822	12993822	Human	1	name
152071054	CV1581373	single nucleotide variant	NM_018127.7(ELAC2):c.2226A>G (p.Lys742=)	Combined oxidative phosphorylation defect type 17 [RCV002091592]	likely benign	17	12993714	12993714	Human	1	name
152093163	CV1593326	single nucleotide variant	NM_018127.7(ELAC2):c.1257T>G (p.Gly419=)	Combined oxidative phosphorylation defect type 17 [RCV002094471]	likely benign	17	13002321	13002321	Human	1	name
152059042	CV1595825	single nucleotide variant	NM_018127.7(ELAC2):c.1686A>G (p.Arg562=)	Combined oxidative phosphorylation defect type 17 [RCV002090036]	likely benign	17	12995952	12995952	Human	1	name
152150620	CV1598139	single nucleotide variant	NM_018127.7(ELAC2):c.2190C>T (p.Ala730=)	Combined oxidative phosphorylation defect type 17 [RCV002121687]	likely benign	17	12993750	12993750	Human	1	name
152097612	CV1616129	single nucleotide variant	NM_018127.7(ELAC2):c.1696T>C (p.Leu566=)	Combined oxidative phosphorylation defect type 17 [RCV002132841]	likely benign	17	12995942	12995942	Human	1	name
152026987	CV1626714	single nucleotide variant	NM_018127.7(ELAC2):c.1743C>T (p.Pro581=)	Combined oxidative phosphorylation defect type 17 [RCV002185344]	likely benign	17	12995768	12995768	Human	1	name
152125401	CV1630190	single nucleotide variant	NM_018127.7(ELAC2):c.1014C>T (p.Ala338=)	Combined oxidative phosphorylation defect type 17 [RCV002154802]	likely benign	17	13003544	13003544	Human	1	name
152076771	CV1632766	single nucleotide variant	NM_018127.7(ELAC2):c.1638C>T (p.His546=)	Combined oxidative phosphorylation defect type 17 [RCV002170022]	likely benign	17	12996568	12996568	Human	1	name
152094260	CV1634476	single nucleotide variant	NM_018127.7(ELAC2):c.2421G>A (p.Glu807=)	Combined oxidative phosphorylation defect type 17 [RCV002213148]	likely benign	17	12992878	12992878	Human	1	name
152040386	CV1644124	single nucleotide variant	NM_018127.7(ELAC2):c.1008C>T (p.Pro336=)	Combined oxidative phosphorylation defect type 17 [RCV002126003]	likely benign	17	13003550	13003550	Human	1	name
152097943	CV1650260	single nucleotide variant	NM_018127.7(ELAC2):c.1608G>A (p.Leu536=)	Combined oxidative phosphorylation defect type 17 [RCV002114946]\|ELAC2-related disorder [RCV003971055]	likely benign	17	12996598	12996598	Human	2	name , alternate_id
152047267	CV1653932	single nucleotide variant	NM_018127.7(ELAC2):c.1524C>T (p.Pro508=)	Combined oxidative phosphorylation defect type 17 [RCV002088695]\|not provided [RCV003426314]	likely benign	17	12996682	12996682	Human	1	name
152173733	CV1655841	single nucleotide variant	NM_018127.7(ELAC2):c.1350G>A (p.Ala450=)	Combined oxidative phosphorylation defect type 17 [RCV002184274]	likely benign	17	13000229	13000229	Human	1	name
152056993	CV1656476	single nucleotide variant	NM_018127.7(ELAC2):c.1191C>T (p.Phe397=)	Combined oxidative phosphorylation defect type 17 [RCV002109665]	likely benign	17	13002468	13002468	Human	1	name
152056189	CV1662837	single nucleotide variant	NM_018127.7(ELAC2):c.1584C>T (p.Tyr528=)	Combined oxidative phosphorylation defect type 17 [RCV002146261]	likely benign	17	12996622	12996622	Human	1	name
152982931	CV1677782	single nucleotide variant	NM_018127.7(ELAC2):c.225C>G (p.Tyr75Ter)	Prostate cancer, hereditary, 2 [RCV002249935]	pathogenic	17	13017723	13017723	Human	1	name
155733763	CV1774360	single nucleotide variant	NM_018127.7(ELAC2):c.268G>A (p.Gly90Ser)	Combined oxidative phosphorylation defect type 17 [RCV002301816]	uncertain significance	17	13017099	13017099	Human	1	name
156381744	CV1868444	single nucleotide variant	NM_018127.7(ELAC2):c.183G>T (p.Gln61His)	Combined oxidative phosphorylation defect type 17 [RCV003050541]	uncertain significance	17	13017765	13017765	Human	1	name
156382886	CV1870473	single nucleotide variant	NM_018127.7(ELAC2):c.1098G>A (p.Gln366=)	Combined oxidative phosphorylation defect type 17 [RCV003067319]	likely benign	17	13002561	13002561	Human	1	name
156409336	CV1874011	single nucleotide variant	NM_018127.7(ELAC2):c.2064C>T (p.Thr688=)	Combined oxidative phosphorylation defect type 17 [RCV003071631]	likely benign	17	12994469	12994469	Human	1	name
155985933	CV1883990	single nucleotide variant	NM_018127.7(ELAC2):c.1908G>A (p.Glu636=)	Combined oxidative phosphorylation defect type 17 [RCV003075883]	uncertain significance	17	12994963	12994963	Human	1	name
156111248	CV1903937	single nucleotide variant	NM_018127.7(ELAC2):c.1242G>A (p.Val414=)	Combined oxidative phosphorylation defect type 17 [RCV003080980]	likely benign	17	13002336	13002336	Human	1	name
156366936	CV1909387	single nucleotide variant	NM_018127.7(ELAC2):c.1062C>T (p.Tyr354=)	Combined oxidative phosphorylation defect type 17 [RCV002602887]	likely benign	17	13003496	13003496	Human	1	name
156358493	CV1914178	single nucleotide variant	NM_018127.7(ELAC2):c.1560A>T (p.Thr520=)	Combined oxidative phosphorylation defect type 17 [RCV002632507]	likely benign	17	12996646	12996646	Human	1	name
156405285	CV1919272	single nucleotide variant	NM_018127.7(ELAC2):c.1011G>T (p.Val337=)	Combined oxidative phosphorylation defect type 17 [RCV002585613]	likely benign	17	13003547	13003547	Human	1	name
156289903	CV1926457	single nucleotide variant	NM_018127.7(ELAC2):c.2397G>A (p.Leu799=)	Combined oxidative phosphorylation defect type 17 [RCV002628769]	likely benign	17	12992902	12992902	Human	1	name
156210561	CV1929044	single nucleotide variant	NM_018127.7(ELAC2):c.2480G>A (p.Ter827=)	Combined oxidative phosphorylation defect type 17 [RCV002643978]	likely benign\|uncertain significance	17	12992819	12992819	Human	1	name
156291160	CV1929307	single nucleotide variant	NM_018127.7(ELAC2):c.2047C>T (p.Leu683=)	Combined oxidative phosphorylation defect type 17 [RCV002647200]	likely benign	17	12994486	12994486	Human	1	name
156168010	CV1930067	single nucleotide variant	NM_018127.7(ELAC2):c.257A>G (p.Asn86Ser)	Combined oxidative phosphorylation defect type 17 [RCV002624616]	uncertain significance	17	13017110	13017110	Human	1	name
156410400	CV1932322	single nucleotide variant	NM_018127.7(ELAC2):c.291G>C (p.Glu97Asp)	Combined oxidative phosphorylation defect type 17 [RCV002607852]\|Inborn genetic diseases [RCV005333540]	uncertain significance	17	13017076	13017076	Human	2	name
156442019	CV1941683	single nucleotide variant	NM_018127.7(ELAC2):c.202C>T (p.Arg68Trp)	Combined oxidative phosphorylation defect type 17 [RCV003112356]	uncertain significance	17	13017746	13017746	Human	1	name
156442760	CV1948867	single nucleotide variant	NM_018127.7(ELAC2):c.1407C>T (p.Asp469=)	Combined oxidative phosphorylation defect type 17 [RCV003113112]\|not provided [RCV003992745]	likely benign	17	13000172	13000172	Human	1	name
156330257	CV1954042	single nucleotide variant	NM_018127.7(ELAC2):c.283A>G (p.Met95Val)	Combined oxidative phosphorylation defect type 17 [RCV002579957]	uncertain significance	17	13017084	13017084	Human	1	name
156261132	CV1997049	single nucleotide variant	NM_018127.7(ELAC2):c.1233C>T (p.Thr411=)	Combined oxidative phosphorylation defect type 17 [RCV002646216]	likely benign	17	13002345	13002345	Human	1	name
156006879	CV2015082	single nucleotide variant	NM_018127.7(ELAC2):c.286C>T (p.Gln96Ter)	Combined oxidative phosphorylation defect type 17 [RCV002690312]	pathogenic	17	13017081	13017081	Human	1	name
156314697	CV2017910	single nucleotide variant	NM_018127.7(ELAC2):c.1870T>C (p.Leu624=)	Combined oxidative phosphorylation defect type 17 [RCV002671835]	likely benign	17	12995001	12995001	Human	1	name
156316391	CV2018019	single nucleotide variant	NM_018127.7(ELAC2):c.107C>T (p.Pro36Leu)	Combined oxidative phosphorylation defect type 17 [RCV002671925]	uncertain significance	17	13017841	13017841	Human	1	name
156242112	CV2024562	single nucleotide variant	NM_018127.7(ELAC2):c.1323C>T (p.Cys441=)	Combined oxidative phosphorylation defect type 17 [RCV002745697]	likely benign	17	13000256	13000256	Human	1	name
155907790	CV2027732	single nucleotide variant	NM_018127.7(ELAC2):c.223T>C (p.Tyr75His)	Combined oxidative phosphorylation defect type 17 [RCV002726580]	uncertain significance	17	13017725	13017725	Human	1	name
156067603	CV2054586	single nucleotide variant	NM_018127.7(ELAC2):c.1038A>T (p.Ala346=)	Combined oxidative phosphorylation defect type 17 [RCV002797301]	likely benign	17	13003520	13003520	Human	1	name
156093316	CV2054592	single nucleotide variant	NM_018127.7(ELAC2):c.161G>T (p.Gly54Val)	Combined oxidative phosphorylation defect type 17 [RCV002824271]	uncertain significance	17	13017787	13017787	Human	1	name
155950365	CV2058705	single nucleotide variant	NM_018127.7(ELAC2):c.1959G>A (p.Leu653=)	Combined oxidative phosphorylation defect type 17 [RCV002816234]	likely benign	17	12994834	12994834	Human	1	name
156058523	CV2069117	single nucleotide variant	NM_018127.7(ELAC2):c.2121A>G (p.Gln707=)	Combined oxidative phosphorylation defect type 17 [RCV002846686]	likely benign	17	12993819	12993819	Human	1	name
156171082	CV2075564	single nucleotide variant	NM_018127.7(ELAC2):c.1935C>T (p.Cys645=)	Combined oxidative phosphorylation defect type 17 [RCV002851531]	likely benign	17	12994858	12994858	Human	1	name
156297979	CV2075709	single nucleotide variant	NM_018127.7(ELAC2):c.1944G>T (p.Ala648=)	Combined oxidative phosphorylation defect type 17 [RCV002857031]	likely benign	17	12994849	12994849	Human	1	name
155908376	CV2077572	single nucleotide variant	NM_018127.7(ELAC2):c.1437G>A (p.Gln479=)	Combined oxidative phosphorylation defect type 17 [RCV002858301]	likely benign	17	12998495	12998495	Human	1	name
155989175	CV2094458	single nucleotide variant	NM_018127.7(ELAC2):c.215C>T (p.Ala72Val)	Combined oxidative phosphorylation defect type 17 [RCV002882308]	uncertain significance	17	13017733	13017733	Human	1	name
156161448	CV2096896	single nucleotide variant	NM_018127.7(ELAC2):c.2175C>T (p.Phe725=)	Combined oxidative phosphorylation defect type 17 [RCV002872675]	likely benign	17	12993765	12993765	Human	1	name
155919892	CV2102335	single nucleotide variant	NM_018127.7(ELAC2):c.1200C>A (p.Leu400=)	Combined oxidative phosphorylation defect type 17 [RCV002903301]	likely benign	17	13002459	13002459	Human	1	name
156320588	CV2111982	single nucleotide variant	NM_018127.7(ELAC2):c.1659G>C (p.Thr553=)	Combined oxidative phosphorylation defect type 17 [RCV002937723]	uncertain significance	17	12996547	12996547	Human	1	name
156382914	CV2118178	single nucleotide variant	NM_018127.7(ELAC2):c.118C>G (p.Leu40Val)	Combined oxidative phosphorylation defect type 17 [RCV002943279]	uncertain significance	17	13017830	13017830	Human	1	name
156359277	CV2126318	single nucleotide variant	NM_018127.7(ELAC2):c.1944G>A (p.Ala648=)	Combined oxidative phosphorylation defect type 17 [RCV002966872]	likely benign	17	12994849	12994849	Human	1	name
155905921	CV2130765	single nucleotide variant	NM_018127.7(ELAC2):c.1794C>T (p.Val598=)	Combined oxidative phosphorylation defect type 17 [RCV002967709]	likely benign	17	12995717	12995717	Human	1	name
156143659	CV2134267	single nucleotide variant	NM_018127.7(ELAC2):c.184G>C (p.Val62Leu)	Combined oxidative phosphorylation defect type 17 [RCV002982406]	uncertain significance	17	13017764	13017764	Human	1	name
156259348	CV2138518	single nucleotide variant	NM_018127.7(ELAC2):c.1644C>T (p.His548=)	Combined oxidative phosphorylation defect type 17 [RCV002988410]	likely benign	17	12996562	12996562	Human	1	name
156108669	CV2145844	single nucleotide variant	NM_018127.7(ELAC2):c.1926G>A (p.Val642=)	Combined oxidative phosphorylation defect type 17 [RCV003021318]	likely benign	17	12994867	12994867	Human	1	name
156262199	CV2191088	single nucleotide variant	NM_018127.7(ELAC2):c.214G>A (p.Ala72Thr)	Combined oxidative phosphorylation defect type 17 [RCV003044157]	uncertain significance	17	13017734	13017734	Human	1	name
156376135	CV2210455	single nucleotide variant	NM_018127.7(ELAC2):c.103G>A (p.Asp35Asn)	Inborn genetic diseases [RCV002677753]	uncertain significance	17	13017845	13017845	Human	1	name
156128097	CV2223882	single nucleotide variant	NM_018127.7(ELAC2):c.143C>T (p.Pro48Leu)	Inborn genetic diseases [RCV002708281]	uncertain significance	17	13017805	13017805	Human	1	name
10768584	CV222556	single nucleotide variant	NM_018127.7(ELAC2):c.2376G>A (p.Ala792=)	Combined oxidative phosphorylation defect type 17 [RCV000206641]\|ELAC2-related disorder [RCV004755811]\|Prostate cancer, hereditary, 2 [RCV003316142]\|not provided [RCV001561769]	likely benign	17	12992923	12992923	Human	2	name , alternate_id
243054608	CV2419070	single nucleotide variant	NM_018127.7(ELAC2):c.170C>T (p.Thr57Ile)	Ovarian cancer [RCV003154754]	likely pathogenic	17	13017778	13017778	Human	2	name
11348215	CV242585	single nucleotide variant	NM_018127.7(ELAC2):c.2142G>T (p.Arg714=)	Combined oxidative phosphorylation defect type 17 [RCV001497478]	likely benign	17	12993798	12993798	Human	1	name
11349991	CV242587	single nucleotide variant	NM_018127.7(ELAC2):c.1659G>A (p.Thr553=)	Combined oxidative phosphorylation defect type 17 [RCV000232815]\|not provided [RCV004692861]	uncertain significance	17	12996547	12996547	Human	1	name
11347614	CV242588	single nucleotide variant	NM_018127.7(ELAC2):c.1479G>C (p.Pro493=)	Combined oxidative phosphorylation defect type 17 [RCV000232716]\|Prostate cancer, hereditary, 2 [RCV003316292]\|not provided [RCV004709407]\|not specified [RCV000438191]	benign	17	12998453	12998453	Human	2	name
11346816	CV242589	single nucleotide variant	NM_018127.7(ELAC2):c.1458T>C (p.Leu486=)	Combined oxidative phosphorylation defect type 17 [RCV001493371]\|not provided [RCV005411256]	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity	17	12998474	12998474	Human	9	name
11349322	CV242592	single nucleotide variant	NM_018127.7(ELAC2):c.155C>T (p.Ser52Phe)	Combined oxidative phosphorylation defect type 17 [RCV001080140]\|ELAC2-related disorder [RCV003929992]\|Prostate cancer, hereditary, 2 [RCV003316293]\|not provided [RCV000676447]	benign\|likely benign\|uncertain significance	17	13017793	13017793	Human	2	name , alternate_id
11346083	CV242593	single nucleotide variant	NM_018127.7(ELAC2):c.155C>G (p.Ser52Cys)	Combined oxidative phosphorylation defect type 17 [RCV001085155]\|ELAC2-related disorder [RCV003955363]\|Inborn genetic diseases [RCV005328232]\|Prostate cancer, hereditary, 2 [RCV003224237]\|not provided [RCV000786129]	likely benign\|uncertain significance	17	13017793	13017793	Human	3	name , alternate_id
401880853	CV2789403	single nucleotide variant	NM_018127.7(ELAC2):c.125C>G (p.Thr42Arg)	Inborn genetic diseases [RCV003385145]	uncertain significance	17	13017823	13017823	Human	1	name
405088337	CV2880562	single nucleotide variant	NM_018127.7(ELAC2):c.1464A>G (p.Thr488=)	Combined oxidative phosphorylation defect type 17 [RCV003582585]	likely benign	17	12998468	12998468	Human	1	name
405071943	CV2881933	single nucleotide variant	NM_018127.7(ELAC2):c.1716G>T (p.Pro572=)	Combined oxidative phosphorylation defect type 17 [RCV003581179]	likely benign	17	12995795	12995795	Human	1	name
405076802	CV2905913	single nucleotide variant	NM_018127.7(ELAC2):c.2328G>A (p.Glu776=)	Combined oxidative phosphorylation defect type 17 [RCV003581507]	likely benign	17	12992971	12992971	Human	1	name
405092305	CV2910241	duplication	NM_018127.7(ELAC2):c.299dup (p.Leu100fs)	Combined oxidative phosphorylation defect type 17 [RCV003582956]	pathogenic	17	13016929	13016930	Human	1	name
405094551	CV2929401	single nucleotide variant	NM_018127.7(ELAC2):c.2379C>G (p.Ala793=)	Combined oxidative phosphorylation defect type 17 [RCV003583151]	likely benign	17	12992920	12992920	Human	1	name
405058682	CV2946579	single nucleotide variant	NM_018127.7(ELAC2):c.1053C>T (p.Asp351=)	Combined oxidative phosphorylation defect type 17 [RCV003741386]	likely benign	17	13003505	13003505	Human	1	name
405059965	CV2950119	single nucleotide variant	NM_018127.7(ELAC2):c.1275C>T (p.Tyr425=)	Combined oxidative phosphorylation defect type 17 [RCV003741493]	likely benign	17	13002303	13002303	Human	1	name
405060564	CV2951698	single nucleotide variant	NM_018127.7(ELAC2):c.1713G>A (p.Lys571=)	Combined oxidative phosphorylation defect type 17 [RCV003741544]	likely benign	17	12995798	12995798	Human	1	name
405061290	CV2956052	single nucleotide variant	NM_018127.7(ELAC2):c.1452C>A (p.Ile484=)	Combined oxidative phosphorylation defect type 17 [RCV003741587]	likely benign	17	12998480	12998480	Human	1	name
405063287	CV2976313	single nucleotide variant	NM_018127.7(ELAC2):c.1185C>T (p.Asp395=)	Combined oxidative phosphorylation defect type 17 [RCV003741763]	likely benign	17	13002474	13002474	Human	1	name
405067007	CV3003797	single nucleotide variant	NM_018127.7(ELAC2):c.1119C>T (p.Asn373=)	Combined oxidative phosphorylation defect type 17 [RCV003742059]	likely benign	17	13002540	13002540	Human	1	name
405069669	CV3014297	single nucleotide variant	NM_018127.7(ELAC2):c.2049G>A (p.Leu683=)	Combined oxidative phosphorylation defect type 17 [RCV003742250]	likely benign	17	12994484	12994484	Human	1	name
405070458	CV3019205	single nucleotide variant	NM_018127.7(ELAC2):c.2085G>A (p.Glu695=)	Combined oxidative phosphorylation defect type 17 [RCV003742330]	likely benign	17	12994448	12994448	Human	1	name
405072867	CV3042683	single nucleotide variant	NM_018127.7(ELAC2):c.1674C>T (p.Ile558=)	Combined oxidative phosphorylation defect type 17 [RCV003742497]	likely benign	17	12995964	12995964	Human	1	name
405052065	CV3045717	single nucleotide variant	NM_018127.7(ELAC2):c.2164C>T (p.Leu722=)	Combined oxidative phosphorylation defect type 17 [RCV003740699]	likely benign	17	12993776	12993776	Human	1	name
405073413	CV3046866	single nucleotide variant	NM_018127.7(ELAC2):c.1440C>T (p.Tyr480=)	Combined oxidative phosphorylation defect type 17 [RCV003742538]	likely benign	17	12998492	12998492	Human	1	name
405053029	CV3057979	single nucleotide variant	NM_018127.7(ELAC2):c.106C>T (p.Pro36Ser)	Combined oxidative phosphorylation defect type 17 [RCV003740802]	uncertain significance	17	13017842	13017842	Human	1	name
405053359	CV3064773	single nucleotide variant	NM_018127.7(ELAC2):c.1626G>A (p.Val542=)	Combined oxidative phosphorylation defect type 17 [RCV003740829]	likely benign	17	12996580	12996580	Human	1	name
405055398	CV3070991	single nucleotide variant	NM_018127.7(ELAC2):c.1678C>T (p.Leu560=)	Combined oxidative phosphorylation defect type 17 [RCV003741007]	likely benign	17	12995960	12995960	Human	1	name
405055437	CV3071274	single nucleotide variant	NM_018127.7(ELAC2):c.1917C>T (p.Thr639=)	Combined oxidative phosphorylation defect type 17 [RCV003741010]	likely benign	17	12994876	12994876	Human	1	name
405054938	CV3073530	single nucleotide variant	NM_018127.7(ELAC2):c.1662C>T (p.Gly554=)	Combined oxidative phosphorylation defect type 17 [RCV003740971]	likely benign	17	12995976	12995976	Human	1	name
405209776	CV3117371	single nucleotide variant	NM_018127.7(ELAC2):c.1173C>T (p.Leu391=)	Combined oxidative phosphorylation defect type 17 [RCV003823158]	likely benign	17	13002486	13002486	Human	1	name
405188620	CV3121321	single nucleotide variant	NM_018127.7(ELAC2):c.2223G>A (p.Glu741=)	Combined oxidative phosphorylation defect type 17 [RCV003820777]	likely benign	17	12993717	12993717	Human	1	name
404979493	CV3127827	single nucleotide variant	NM_018127.7(ELAC2):c.1962G>A (p.Val654=)	Combined oxidative phosphorylation defect type 17 [RCV003825859]	likely benign	17	12994831	12994831	Human	1	name
405009286	CV3127923	single nucleotide variant	NM_018127.7(ELAC2):c.2454A>G (p.Pro818=)	Combined oxidative phosphorylation defect type 17 [RCV003828803]	likely benign	17	12992845	12992845	Human	1	name
405135815	CV3130575	single nucleotide variant	NM_018127.7(ELAC2):c.1182G>A (p.Pro394=)	Combined oxidative phosphorylation defect type 17 [RCV003838808]	likely benign	17	13002477	13002477	Human	1	name
405226537	CV3142540	single nucleotide variant	NM_018127.7(ELAC2):c.2073T>C (p.Asp691=)	Combined oxidative phosphorylation defect type 17 [RCV003848079]	likely benign	17	12994460	12994460	Human	1	name
405233556	CV3157969	single nucleotide variant	NM_018127.7(ELAC2):c.2034A>G (p.Lys678=)	Combined oxidative phosphorylation defect type 17 [RCV003865725]	likely benign	17	12994499	12994499	Human	1	name
405213694	CV3169906	single nucleotide variant	NM_018127.7(ELAC2):c.1845G>A (p.Glu615=)	Combined oxidative phosphorylation defect type 17 [RCV003862510]	likely benign	17	12995026	12995026	Human	1	name
596926537	CV3542314	single nucleotide variant	NM_018127.7(ELAC2):c.225C>A (p.Tyr75Ter)	Combined oxidative phosphorylation defect type 17 [RCV005105131]\|Prostate cancer, hereditary, 2 [RCV004796529]	pathogenic\|likely pathogenic	17	13017723	13017723	Human	2	name
597907266	CV3738882	duplication	NM_018127.7(ELAC2):c.406dup (p.Cys136fs)	Combined oxidative phosphorylation defect type 17 [RCV005073117]	pathogenic	17	13015793	13015794	Human	1	name
597902898	CV3741455	single nucleotide variant	NM_018127.7(ELAC2):c.2001C>A (p.Thr667=)	Combined oxidative phosphorylation defect type 17 [RCV005072426]	likely benign	17	12994792	12994792	Human	1	name
12845689	CV374843	single nucleotide variant	NM_018127.7(ELAC2):c.2403C>T (p.Gly801=)	Combined oxidative phosphorylation defect type 17 [RCV001057380]\|not provided [RCV001720226]	likely benign\|uncertain significance	17	12992896	12992896	Human	1	name
12835427	CV374845	single nucleotide variant	NM_018127.7(ELAC2):c.2130C>T (p.Ser710=)	Combined oxidative phosphorylation defect type 17 [RCV000469655]\|Prostate cancer, hereditary, 2 [RCV003316546]\|not provided [RCV004710011]\|not specified [RCV000421651]	benign	17	12993810	12993810	Human	2	name
12839171	CV374847	single nucleotide variant	NM_018127.7(ELAC2):c.1893A>G (p.Thr631=)	Combined oxidative phosphorylation defect type 17 [RCV001521288]\|Prostate cancer, hereditary, 2 [RCV003316539]\|not provided [RCV000676438]\|not specified [RCV000428331]	benign	17	12994978	12994978	Human	2	name
597841003	CV3752725	single nucleotide variant	NM_018127.7(ELAC2):c.127C>T (p.Arg43Ter)	Combined oxidative phosphorylation defect type 17 [RCV005086454]	pathogenic	17	13017821	13017821	Human	1	name
597953720	CV3757105	single nucleotide variant	NM_018127.7(ELAC2):c.1602G>A (p.Arg534=)	Combined oxidative phosphorylation defect type 17 [RCV005079966]	likely benign	17	12996604	12996604	Human	1	name
12842540	CV375713	single nucleotide variant	NM_018127.7(ELAC2):c.1560A>G (p.Thr520=)	Combined oxidative phosphorylation defect type 17 [RCV001521289]\|Prostate cancer, hereditary, 2 [RCV003316537]\|not provided [RCV000676440]\|not specified [RCV000434605]	benign	17	12996646	12996646	Human	2	name
597943508	CV3758017	single nucleotide variant	NM_018127.7(ELAC2):c.1020G>A (p.Val340=)	Combined oxidative phosphorylation defect type 17 [RCV005078016]	likely benign	17	13003538	13003538	Human	1	name
12833958	CV375937	single nucleotide variant	NM_018127.7(ELAC2):c.2151G>A (p.Ala717=)	Combined oxidative phosphorylation defect type 17 [RCV000542559]\|not specified [RCV000419492]	likely benign	17	12993789	12993789	Human	1	name
597845154	CV3761523	single nucleotide variant	NM_018127.7(ELAC2):c.1065G>A (p.Gln355=)	Combined oxidative phosphorylation defect type 17 [RCV005087123]	likely benign	17	13003493	13003493	Human	1	name
597946179	CV3777272	single nucleotide variant	NM_018127.7(ELAC2):c.1578T>A (p.Arg526=)	Combined oxidative phosphorylation defect type 17 [RCV005119911]	likely benign	17	12996628	12996628	Human	1	name
12844882	CV378059	single nucleotide variant	NM_018127.7(ELAC2):c.1692C>T (p.Arg564=)	Combined oxidative phosphorylation defect type 17 [RCV000463964]\|ELAC2-related disorder [RCV003972616]\|Prostate cancer, hereditary, 2 [RCV005235285]\|not specified [RCV000438797]	benign\|likely benign	17	12995946	12995946	Human	2	name , alternate_id
12837826	CV378060	single nucleotide variant	NM_018127.7(ELAC2):c.1479G>A (p.Pro493=)	Combined oxidative phosphorylation defect type 17 [RCV002062695]\|not specified [RCV000425836]	likely benign	17	12998453	12998453	Human	1	name
12837843	CV378065	single nucleotide variant	NM_018127.7(ELAC2):c.1389C>T (p.Tyr463=)	Combined oxidative phosphorylation defect type 17 [RCV001079847]\|Prostate cancer, hereditary, 2 [RCV003316542]\|not provided [RCV000676441]\|not specified [RCV000425872]	benign	17	13000190	13000190	Human	2	name
12843083	CV378066	single nucleotide variant	NM_018127.7(ELAC2):c.1161C>T (p.Thr387=)	Combined oxidative phosphorylation defect type 17 [RCV002062538]\|not specified [RCV000435589]	likely benign	17	13002498	13002498	Human	1	name
597933471	CV3780847	single nucleotide variant	NM_018127.7(ELAC2):c.2355G>A (p.Arg785=)	Combined oxidative phosphorylation defect type 17 [RCV005116959]	likely benign	17	12992944	12992944	Human	1	name
597967989	CV3790607	single nucleotide variant	NM_018127.7(ELAC2):c.2283C>G (p.Pro761=)	Combined oxidative phosphorylation defect type 17 [RCV005140838]	likely benign	17	12993016	12993016	Human	1	name
597968050	CV3790625	single nucleotide variant	NM_018127.7(ELAC2):c.2430G>A (p.Gln810=)	Combined oxidative phosphorylation defect type 17 [RCV005140856]	likely benign	17	12992869	12992869	Human	1	name
597885236	CV3799723	single nucleotide variant	NM_018127.7(ELAC2):c.1920T>C (p.Cys640=)	Combined oxidative phosphorylation defect type 17 [RCV005150390]	likely benign	17	12994873	12994873	Human	1	name
597924172	CV3808609	single nucleotide variant	NM_018127.7(ELAC2):c.1233C>G (p.Thr411=)	Combined oxidative phosphorylation defect type 17 [RCV005156123]	likely benign	17	13002345	13002345	Human	1	name
597953579	CV3808882	single nucleotide variant	NM_018127.7(ELAC2):c.1881G>A (p.Ser627=)	Combined oxidative phosphorylation defect type 17 [RCV005161800]	likely benign	17	12994990	12994990	Human	1	name
597928947	CV3816206	single nucleotide variant	NM_018127.7(ELAC2):c.1716G>A (p.Pro572=)	Combined oxidative phosphorylation defect type 17 [RCV005156787]	likely benign	17	12995795	12995795	Human	1	name
597974147	CV3821113	single nucleotide variant	NM_018127.7(ELAC2):c.1764C>T (p.Leu588=)	Combined oxidative phosphorylation defect type 17 [RCV005168434]	likely benign	17	12995747	12995747	Human	1	name
597970259	CV3822028	single nucleotide variant	NM_018127.7(ELAC2):c.1572G>A (p.Leu524=)	Combined oxidative phosphorylation defect type 17 [RCV005166491]	likely benign	17	12996634	12996634	Human	1	name
597847607	CV3823994	single nucleotide variant	NM_018127.7(ELAC2):c.139G>T (p.Gly47Ter)	Combined oxidative phosphorylation defect type 17 [RCV005173233]	pathogenic	17	13017809	13017809	Human	1	name
597873839	CV3836365	single nucleotide variant	NM_018127.7(ELAC2):c.2283C>T (p.Pro761=)	Combined oxidative phosphorylation defect type 17 [RCV005177162]	likely benign	17	12993016	12993016	Human	1	name
597888492	CV3839242	single nucleotide variant	NM_018127.7(ELAC2):c.1353G>A (p.Leu451=)	Combined oxidative phosphorylation defect type 17 [RCV005179329]	likely benign	17	13000226	13000226	Human	1	name
597905701	CV3846590	single nucleotide variant	NM_018127.7(ELAC2):c.1923G>A (p.Leu641=)	Combined oxidative phosphorylation defect type 17 [RCV005182017]	likely benign	17	12994870	12994870	Human	1	name
597944796	CV3847972	single nucleotide variant	NM_018127.7(ELAC2):c.1461A>T (p.Gly487=)	Combined oxidative phosphorylation defect type 17 [RCV005188702]	likely benign	17	12998471	12998471	Human	1	name
597936554	CV3852216	single nucleotide variant	NM_018127.7(ELAC2):c.1884G>C (p.Leu628=)	Combined oxidative phosphorylation defect type 17 [RCV005186813]	likely benign	17	12994987	12994987	Human	1	name
597904431	CV3856371	single nucleotide variant	NM_018127.7(ELAC2):c.194C>T (p.Ala65Val)	Combined oxidative phosphorylation defect type 17 [RCV005202599]	uncertain significance	17	13017754	13017754	Human	1	name
597880931	CV3857368	single nucleotide variant	NM_018127.7(ELAC2):c.1551T>G (p.Gly517=)	Combined oxidative phosphorylation defect type 17 [RCV005198978]	likely benign	17	12996655	12996655	Human	1	name
597931040	CV3862438	single nucleotide variant	NM_018127.7(ELAC2):c.1311C>T (p.Ala437=)	Combined oxidative phosphorylation defect type 17 [RCV005206683]	likely benign	17	13000268	13000268	Human	1	name
12885166	CV401532	single nucleotide variant	NM_018127.7(ELAC2):c.2457G>A (p.Gln819=)	Combined oxidative phosphorylation defect type 17 [RCV001506562]\|Prostate cancer, hereditary, 2 [RCV003316608]	likely benign	17	12992842	12992842	Human	2	name
13494499	CV466341	single nucleotide variant	NM_018127.7(ELAC2):c.1377C>T (p.Ser459=)	Combined oxidative phosphorylation defect type 17 [RCV000558956]	likely benign	17	13000202	13000202	Human	1	name
13488812	CV467099	single nucleotide variant	NM_018127.7(ELAC2):c.2325C>T (p.Ile775=)	Combined oxidative phosphorylation defect type 17 [RCV000555023]\|not provided [RCV003424139]	likely benign	17	12992974	12992974	Human	1	name
13473843	CV467418	single nucleotide variant	NM_018127.7(ELAC2):c.2076T>G (p.Gly692=)	Combined oxidative phosphorylation defect type 17 [RCV000525559]	likely benign	17	12994457	12994457	Human	1	name
13474008	CV467426	single nucleotide variant	NM_018127.7(ELAC2):c.145T>C (p.Ser49Pro)	Combined oxidative phosphorylation defect type 17 [RCV000548058]	uncertain significance	17	13017803	13017803	Human	1	name
13541078	CV505739	single nucleotide variant	NM_018127.7(ELAC2):c.1731G>C (p.Leu577=)	not provided [RCV000927681]\|not specified [RCV000615641]	likely benign	17	12995780	12995780	Human		name
13536169	CV505740	single nucleotide variant	NM_018127.7(ELAC2):c.1575C>T (p.Cys525=)	Combined oxidative phosphorylation defect type 17 [RCV002528541]\|not specified [RCV000608606]	likely benign	17	12996631	12996631	Human	1	name
13540128	CV505928	single nucleotide variant	NM_018127.7(ELAC2):c.1884G>A (p.Leu628=)	Combined oxidative phosphorylation defect type 17 [RCV001500566]\|not provided [RCV000910146]	likely benign	17	12994987	12994987	Human	1	name
13537535	CV506142	single nucleotide variant	NM_018127.7(ELAC2):c.2409G>A (p.Leu803=)	Combined oxidative phosphorylation defect type 17 [RCV002066758]\|not provided [RCV004705711]\|not specified [RCV000610542]	likely benign	17	12992890	12992890	Human	1	name
13538735	CV506151	single nucleotide variant	NM_018127.7(ELAC2):c.1521C>T (p.Ser507=)	Combined oxidative phosphorylation defect type 17 [RCV002528683]\|not specified [RCV000612266]	likely benign\|uncertain significance	17	12996685	12996685	Human	1	name
13794532	CV552199	deletion	NM_018127.7(ELAC2):c.457del (p.Ile153fs)	Combined oxidative phosphorylation defect type 17 [RCV000679976]\|not provided [RCV004721547]	pathogenic	17	13014472	13014472	Human	1	name
13816330	CV568688	single nucleotide variant	NM_018127.7(ELAC2):c.2319C>T (p.Gly773=)	Combined oxidative phosphorylation defect type 17 [RCV000692231]	likely benign\|uncertain significance	17	12992980	12992980	Human	1	name
15121129	CV684656	single nucleotide variant	NM_018127.7(ELAC2):c.2148C>T (p.Asn716=)	Combined oxidative phosphorylation defect type 17 [RCV001463867]	likely benign	17	12993792	12993792	Human	1	name
15127761	CV684657	single nucleotide variant	NM_018127.7(ELAC2):c.2115G>A (p.Thr705=)	Combined oxidative phosphorylation defect type 17 [RCV000862970]	likely benign	17	12993825	12993825	Human	1	name
15099025	CV688738	single nucleotide variant	NM_018127.7(ELAC2):c.1722C>T (p.His574=)	Combined oxidative phosphorylation defect type 17 [RCV001464819]	likely benign	17	12995789	12995789	Human	1	name
15149488	CV688739	single nucleotide variant	NM_018127.7(ELAC2):c.1401G>T (p.Ala467=)	Combined oxidative phosphorylation defect type 17 [RCV000866866]	likely benign	17	13000178	13000178	Human	1	name
15142517	CV715247	single nucleotide variant	NM_018127.7(ELAC2):c.1740C>T (p.Ala580=)	Combined oxidative phosphorylation defect type 17 [RCV000966503]\|ELAC2-related disorder [RCV003960780]	likely benign	17	12995771	12995771	Human	2	name , alternate_id
15161696	CV726985	single nucleotide variant	NM_018127.7(ELAC2):c.2112A>G (p.Thr704=)	Combined oxidative phosphorylation defect type 17 [RCV002539300]	likely benign	17	12993828	12993828	Human	1	name
15199499	CV726986	single nucleotide variant	NM_018127.7(ELAC2):c.1530G>A (p.Thr510=)	Combined oxidative phosphorylation defect type 17 [RCV000890651]	likely benign	17	12996676	12996676	Human	1	name
15164903	CV755606	single nucleotide variant	NM_018127.7(ELAC2):c.2199C>T (p.Pro733=)	ELAC2-related disorder [RCV003970538]\|not provided [RCV000926495]	likely benign	17	12993741	12993741	Human	2	name , alternate_id
15149936	CV755607	single nucleotide variant	NM_018127.7(ELAC2):c.2007C>G (p.Pro669=)	Combined oxidative phosphorylation defect type 17 [RCV001456421]	likely benign	17	12994786	12994786	Human	1	name
15147425	CV771248	single nucleotide variant	NM_018127.7(ELAC2):c.1641G>A (p.Leu547=)	Combined oxidative phosphorylation defect type 17 [RCV001494841]	likely benign	17	12996565	12996565	Human	1	name
15189531	CV771249	single nucleotide variant	NM_018127.7(ELAC2):c.1506A>G (p.Thr502=)	not provided [RCV000932266]	likely benign	17	12998426	12998426	Human		name
15119265	CV785465	single nucleotide variant	NM_018127.7(ELAC2):c.2295C>G (p.Pro765=)	Combined oxidative phosphorylation defect type 17 [RCV001079004]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	12993004	12993004	Human	1	name
26885105	CV844716	single nucleotide variant	NM_018127.7(ELAC2):c.154T>C (p.Ser52Pro)	Combined oxidative phosphorylation defect type 17 [RCV001043345]	uncertain significance	17	13017794	13017794	Human	1	name
38478446	CV928063	single nucleotide variant	NM_018127.7(ELAC2):c.146C>T (p.Ser49Leu)	Combined oxidative phosphorylation defect type 17 [RCV001216601]	uncertain significance	17	13017802	13017802	Human	1	name
38499774	CV957985	single nucleotide variant	NM_018127.7(ELAC2):c.226G>A (p.Val76Ile)	Combined oxidative phosphorylation defect type 17 [RCV001245063]	uncertain significance	17	13017722	13017722	Human	1	name
38499791	CV957986	single nucleotide variant	NM_018127.7(ELAC2):c.212G>C (p.Gly71Ala)	Combined oxidative phosphorylation defect type 17 [RCV001245086]	uncertain significance	17	13017736	13017736	Human	1	name
126749880	CV997331	single nucleotide variant	NM_018127.7(ELAC2):c.224A>G (p.Tyr75Cys)	Combined oxidative phosphorylation defect type 17 [RCV001297216]	uncertain significance	17	13017724	13017724	Human	1	name
126745196	CV1012574	single nucleotide variant	NM_018127.7(ELAC2):c.591G>A (p.Trp197Ter)	Combined oxidative phosphorylation defect type 17 [RCV001315038]	conflicting interpretations of pathogenicity\|uncertain significance	17	13011751	13011751	Human	1	name
126746171	CV1018234	single nucleotide variant	NM_018127.7(ELAC2):c.595A>G (p.Ser199Gly)	Combined oxidative phosphorylation defect type 17 [RCV001330820]	uncertain significance	17	13011747	13011747	Human	1	name
126774114	CV1033073	single nucleotide variant	NM_018127.7(ELAC2):c.560G>C (p.Ser187Thr)	Combined oxidative phosphorylation defect type 17 [RCV001346851]	uncertain significance	17	13011782	13011782	Human	1	name
126746525	CV1033074	single nucleotide variant	NM_018127.7(ELAC2):c.546G>C (p.Gln182His)	Combined oxidative phosphorylation defect type 17 [RCV001337336]	uncertain significance	17	13013220	13013220	Human	1	name
150423424	CV1185214	deletion	NM_018127.7(ELAC2):c.1521-259_1521-258del	not provided [RCV001555302]	likely benign	17	12996943	12996944	Human		name
150528433	CV1305878	single nucleotide variant	NM_018127.7(ELAC2):c.511C>T (p.Pro171Ser)	Combined oxidative phosphorylation defect type 17 [RCV002540611]\|Inborn genetic diseases [RCV002540612]\|not provided [RCV001755280]	uncertain significance	17	13013255	13013255	Human	2	name
151867926	CV1338327	single nucleotide variant	NM_018127.7(ELAC2):c.814G>T (p.Ala272Ser)	Combined oxidative phosphorylation defect type 17 [RCV001884768]	uncertain significance	17	13005809	13005809	Human	1	name
151831538	CV1343654	single nucleotide variant	NM_018127.7(ELAC2):c.493G>C (p.Val165Leu)	Combined oxidative phosphorylation defect type 17 [RCV001920538]	uncertain significance	17	13013273	13013273	Human	1	name
151836434	CV1351233	single nucleotide variant	NM_018127.7(ELAC2):c.646G>A (p.Glu216Lys)	Combined oxidative phosphorylation defect type 17 [RCV002014838]	uncertain significance	17	13011696	13011696	Human	1	name
151862421	CV1353469	single nucleotide variant	NM_018127.7(ELAC2):c.623G>A (p.Ser208Asn)	Combined oxidative phosphorylation defect type 17 [RCV001924169]	uncertain significance	17	13011719	13011719	Human	1	name
151746921	CV1364669	single nucleotide variant	NM_018127.7(ELAC2):c.841G>A (p.Gly281Arg)	Combined oxidative phosphorylation defect type 17 [RCV001985837]\|not provided [RCV004694074]	uncertain significance	17	13005782	13005782	Human	1	name
151755291	CV1365510	single nucleotide variant	NM_018127.7(ELAC2):c.668A>G (p.His223Arg)	Combined oxidative phosphorylation defect type 17 [RCV001872661]\|Inborn genetic diseases [RCV005330954]	uncertain significance	17	13011674	13011674	Human	2	name
151744635	CV1368229	single nucleotide variant	NM_018127.7(ELAC2):c.667C>T (p.His223Tyr)	Combined oxidative phosphorylation defect type 17 [RCV001871373]	uncertain significance	17	13011675	13011675	Human	1	name
151719705	CV1373826	single nucleotide variant	NM_018127.7(ELAC2):c.632G>A (p.Arg211Gln)	Combined oxidative phosphorylation defect type 17 [RCV001890896]	uncertain significance	17	13011710	13011710	Human	1	name
151781836	CV1381268	single nucleotide variant	NM_018127.7(ELAC2):c.692G>A (p.Arg231Lys)	Combined oxidative phosphorylation defect type 17 [RCV001875429]	uncertain significance	17	13010659	13010659	Human	1	name
151748629	CV1383281	single nucleotide variant	NM_018127.7(ELAC2):c.665C>G (p.Pro222Arg)	Combined oxidative phosphorylation defect type 17 [RCV001947897]	uncertain significance	17	13011677	13011677	Human	1	name
151830575	CV1391741	single nucleotide variant	NM_018127.7(ELAC2):c.934C>T (p.Pro312Ser)	Combined oxidative phosphorylation defect type 17 [RCV002050687]	uncertain significance	17	13005038	13005038	Human	1	name
151827819	CV1400607	single nucleotide variant	NM_018127.7(ELAC2):c.613A>G (p.Ser205Gly)	Combined oxidative phosphorylation defect type 17 [RCV001976346]	uncertain significance	17	13011729	13011729	Human	1	name
151808203	CV1407029	single nucleotide variant	NM_018127.7(ELAC2):c.680G>A (p.Gly227Asp)	Combined oxidative phosphorylation defect type 17 [RCV002048603]	uncertain significance	17	13010671	13010671	Human	1	name
151767730	CV1407912	single nucleotide variant	NM_018127.7(ELAC2):c.997G>A (p.Ala333Thr)	Combined oxidative phosphorylation defect type 17 [RCV001914675]	uncertain significance	17	13003561	13003561	Human	1	name
151767510	CV1410351	single nucleotide variant	NM_018127.7(ELAC2):c.838G>A (p.Asp280Asn)	Combined oxidative phosphorylation defect type 17 [RCV001987922]	uncertain significance	17	13005785	13005785	Human	1	name
151730223	CV1413001	single nucleotide variant	NM_018127.7(ELAC2):c.840C>G (p.Asp280Glu)	Combined oxidative phosphorylation defect type 17 [RCV002004693]	uncertain significance	17	13005783	13005783	Human	1	name
151667642	CV1414452	single nucleotide variant	NM_018127.7(ELAC2):c.532A>G (p.Met178Val)	Combined oxidative phosphorylation defect type 17 [RCV001870633]	uncertain significance	17	13013234	13013234	Human	1	name
151766069	CV1418805	single nucleotide variant	NM_018127.7(ELAC2):c.721G>A (p.Val241Ile)	Combined oxidative phosphorylation defect type 17 [RCV001929060]\|Inborn genetic diseases [RCV002560443]	uncertain significance	17	13010630	13010630	Human	2	name
151783684	CV1424581	single nucleotide variant	NM_018127.7(ELAC2):c.631C>T (p.Arg211Ter)	Combined oxidative phosphorylation defect type 17 [RCV001865194]\|not provided [RCV002225944]	pathogenic\|uncertain significance	17	13011711	13011711	Human	1	name
151756347	CV1426114	deletion	NM_018127.7(ELAC2):c.1706del (p.Leu569fs)	Combined oxidative phosphorylation defect type 17 [RCV002007366]	pathogenic	17	12995805	12995805	Human	1	name
151749649	CV1431209	single nucleotide variant	NM_018127.7(ELAC2):c.967A>G (p.Asn323Asp)	Combined oxidative phosphorylation defect type 17 [RCV001912850]	uncertain significance	17	13005005	13005005	Human	1	name
151755094	CV1433768	single nucleotide variant	NM_018127.7(ELAC2):c.659A>G (p.Asn220Ser)	Combined oxidative phosphorylation defect type 17 [RCV002043675]	uncertain significance	17	13011683	13011683	Human	1	name
151877991	CV1435811	single nucleotide variant	NM_018127.7(ELAC2):c.895C>A (p.Pro299Thr)	Combined oxidative phosphorylation defect type 17 [RCV001961281]\|Inborn genetic diseases [RCV004044512]\|not provided [RCV005253986]	uncertain significance	17	13005077	13005077	Human	2	name
151729479	CV1440868	single nucleotide variant	NM_018127.7(ELAC2):c.311G>A (p.Arg104His)	Combined oxidative phosphorylation defect type 17 [RCV001945893]	uncertain significance	17	13016918	13016918	Human	1	name
151793951	CV1447366	single nucleotide variant	NM_018127.7(ELAC2):c.310C>T (p.Arg104Cys)	Combined oxidative phosphorylation defect type 17 [RCV001876768]\|Inborn genetic diseases [RCV004980783]	uncertain significance	17	13016919	13016919	Human	2	name
151884437	CV1452652	single nucleotide variant	NM_018127.7(ELAC2):c.319A>G (p.Asn107Asp)	Combined oxidative phosphorylation defect type 17 [RCV002037551]\|Inborn genetic diseases [RCV002543466]\|not provided [RCV003426213]	uncertain significance	17	13016910	13016910	Human	2	name
151844644	CV1457868	single nucleotide variant	NM_018127.7(ELAC2):c.445G>A (p.Glu149Lys)	Combined oxidative phosphorylation defect type 17 [RCV001936541]	uncertain significance	17	13014484	13014484	Human	1	name
151724188	CV1459231	single nucleotide variant	NM_018127.7(ELAC2):c.550C>T (p.Pro184Ser)	Combined oxidative phosphorylation defect type 17 [RCV002020574]	uncertain significance	17	13013216	13013216	Human	1	name
151840649	CV1462991	single nucleotide variant	NM_018127.7(ELAC2):c.566A>G (p.Gln189Arg)	Combined oxidative phosphorylation defect type 17 [RCV002031779]\|Inborn genetic diseases [RCV005331161]	uncertain significance	17	13011776	13011776	Human	2	name
151778607	CV1463350	single nucleotide variant	NM_018127.7(ELAC2):c.372G>A (p.Met124Ile)	Combined oxidative phosphorylation defect type 17 [RCV001875144]	uncertain significance	17	13015828	13015828	Human	1	name
151829573	CV1465536	single nucleotide variant	NM_018127.7(ELAC2):c.752G>A (p.Arg251Lys)	Combined oxidative phosphorylation defect type 17 [RCV002014180]	uncertain significance	17	13005966	13005966	Human	1	name
151829763	CV1465560	single nucleotide variant	NM_018127.7(ELAC2):c.536C>T (p.Thr179Ile)	Combined oxidative phosphorylation defect type 17 [RCV002014198]	uncertain significance	17	13013230	13013230	Human	1	name
151822507	CV1466110	single nucleotide variant	NM_018127.7(ELAC2):c.716T>C (p.Leu239Pro)	Combined oxidative phosphorylation defect type 17 [RCV001879350]	uncertain significance	17	13010635	13010635	Human	1	name
151875640	CV1466846	deletion	NM_018127.7(ELAC2):c.2410del (p.Glu804fs)	Combined oxidative phosphorylation defect type 17 [RCV001885825]	uncertain significance	17	12992889	12992889	Human	1	name
151741940	CV1478099	single nucleotide variant	NM_018127.7(ELAC2):c.814G>A (p.Ala272Thr)	Combined oxidative phosphorylation defect type 17 [RCV002005891]\|Inborn genetic diseases [RCV002579627]	uncertain significance	17	13005809	13005809	Human	2	name
151788617	CV1488916	single nucleotide variant	NM_018127.7(ELAC2):c.703A>G (p.Arg235Gly)	Combined oxidative phosphorylation defect type 17 [RCV002010469]	uncertain significance	17	13010648	13010648	Human	1	name
151711518	CV1497431	single nucleotide variant	NM_018127.7(ELAC2):c.391A>G (p.Thr131Ala)	Combined oxidative phosphorylation defect type 17 [RCV002002069]	uncertain significance	17	13015809	13015809	Human	1	name
151852914	CV1502027	single nucleotide variant	NM_018127.7(ELAC2):c.908G>T (p.Gly303Val)	Combined oxidative phosphorylation defect type 17 [RCV001937594]\|Inborn genetic diseases [RCV004039902]	uncertain significance	17	13005064	13005064	Human	2	name
151729207	CV1517632	single nucleotide variant	NM_018127.7(ELAC2):c.352G>T (p.Val118Phe)	Combined oxidative phosphorylation defect type 17 [RCV002052248]	uncertain significance	17	13016877	13016877	Human	1	name
156206085	CV1874341	single nucleotide variant	NM_018127.7(ELAC2):c.640G>C (p.Asp214His)	Combined oxidative phosphorylation defect type 17 [RCV003058344]	uncertain significance	17	13011702	13011702	Human	1	name
155943933	CV1878932	single nucleotide variant	NM_018127.7(ELAC2):c.472T>G (p.Leu158Val)	Combined oxidative phosphorylation defect type 17 [RCV003056510]\|Inborn genetic diseases [RCV003073724]	uncertain significance	17	13014457	13014457	Human	2	name
156055765	CV1879523	single nucleotide variant	NM_018127.7(ELAC2):c.433G>A (p.Glu145Lys)	Combined oxidative phosphorylation defect type 17 [RCV003053157]	uncertain significance	17	13014496	13014496	Human	1	name
156274993	CV1880546	duplication	NM_018127.7(ELAC2):c.1727dup (p.Leu576fs)	Combined oxidative phosphorylation defect type 17 [RCV003060857]	pathogenic	17	12995783	12995784	Human	1	name
155962761	CV1881740	single nucleotide variant	NM_018127.7(ELAC2):c.689A>G (p.Gln230Arg)	Combined oxidative phosphorylation defect type 17 [RCV003074775]	uncertain significance	17	13010662	13010662	Human	1	name
156342151	CV1896908	single nucleotide variant	NM_018127.7(ELAC2):c.496C>G (p.Arg166Gly)	Combined oxidative phosphorylation defect type 17 [RCV003090425]\|Inborn genetic diseases [RCV004617201]	uncertain significance	17	13013270	13013270	Human	2	name
156311132	CV1899889	duplication	NM_018127.7(ELAC2):c.1535dup (p.Leu513fs)	Combined oxidative phosphorylation defect type 17 [RCV003088453]	pathogenic	17	12996670	12996671	Human	1	name
156418698	CV1918642	single nucleotide variant	NM_018127.7(ELAC2):c.793C>G (p.Pro265Ala)	Combined oxidative phosphorylation defect type 17 [RCV002611901]\|not provided [RCV003481400]	uncertain significance	17	13005925	13005925	Human	1	name
156405913	CV1921394	single nucleotide variant	NM_018127.7(ELAC2):c.893C>A (p.Thr298Asn)	Combined oxidative phosphorylation defect type 17 [RCV002606443]	uncertain significance	17	13005079	13005079	Human	1	name
156352006	CV1923445	single nucleotide variant	NM_018127.7(ELAC2):c.415T>C (p.Ser139Pro)	Combined oxidative phosphorylation defect type 17 [RCV002650963]	uncertain significance	17	13015785	13015785	Human	1	name
156044368	CV1927032	single nucleotide variant	NM_018127.7(ELAC2):c.549C>G (p.Ile183Met)	Combined oxidative phosphorylation defect type 17 [RCV002637704]	uncertain significance	17	13013217	13013217	Human	1	name
156354885	CV1929920	deletion	NM_018127.7(ELAC2):c.1245del (p.Met416fs)	Combined oxidative phosphorylation defect type 17 [RCV002651193]	pathogenic	17	13002333	13002333	Human	1	name
156336280	CV1966922	single nucleotide variant	NM_018127.7(ELAC2):c.499C>T (p.Pro167Ser)	Combined oxidative phosphorylation defect type 17 [RCV002601049]	uncertain significance	17	13013267	13013267	Human	1	name
156419948	CV1979268	single nucleotide variant	NM_018127.7(ELAC2):c.998C>T (p.Ala333Val)	Combined oxidative phosphorylation defect type 17 [RCV002613196]	uncertain significance	17	13003560	13003560	Human	1	name
156219419	CV1981199	single nucleotide variant	NM_018127.7(ELAC2):c.361T>G (p.Leu121Val)	Combined oxidative phosphorylation defect type 17 [RCV002626391]\|Inborn genetic diseases [RCV004065923]	uncertain significance	17	13016868	13016868	Human	2	name
156326483	CV1982088	single nucleotide variant	NM_018127.7(ELAC2):c.317A>G (p.Asp106Gly)	Combined oxidative phosphorylation defect type 17 [RCV002649585]	uncertain significance	17	13016912	13016912	Human	1	name
156304407	CV1999742	single nucleotide variant	NM_018127.7(ELAC2):c.526G>A (p.Glu176Lys)	Combined oxidative phosphorylation defect type 17 [RCV002671311]	uncertain significance	17	13013240	13013240	Human	1	name
8558446	CV20094	single nucleotide variant	NM_018127.7(ELAC2):c.650C>T (p.Ser217Leu)	Combined oxidative phosphorylation defect type 17 [RCV000989756]\|Prostate cancer, hereditary, 2 [RCV000005358]\|Prostate cancer, hereditary, 2 [RCV002476932]\|not provided [RCV000676444]\|not specified [RCV000419055]	pathogenic\|benign	17	13011692	13011692	Human	2	name
156099706	CV2042128	single nucleotide variant	NM_018127.7(ELAC2):c.593A>G (p.Gln198Arg)	Combined oxidative phosphorylation defect type 17 [RCV002761271]	uncertain significance	17	13011749	13011749	Human	1	name
155901825	CV2083862	single nucleotide variant	NM_018127.7(ELAC2):c.383T>A (p.Leu128Ter)	Combined oxidative phosphorylation defect type 17 [RCV002857907]	pathogenic	17	13015817	13015817	Human	1	name
156144062	CV2106258	single nucleotide variant	NM_018127.7(ELAC2):c.660T>G (p.Asn220Lys)	Combined oxidative phosphorylation defect type 17 [RCV002928665]	uncertain significance	17	13011682	13011682	Human	1	name
156014694	CV2121307	single nucleotide variant	NM_018127.7(ELAC2):c.744C>G (p.His248Gln)	Combined oxidative phosphorylation defect type 17 [RCV002948469]	uncertain significance	17	13005974	13005974	Human	1	name
156154397	CV2131961	deletion	NM_018127.7(ELAC2):c.2144del (p.Met715fs)	Combined oxidative phosphorylation defect type 17 [RCV002982768]\|not provided [RCV003443101]	pathogenic\|likely pathogenic	17	12993796	12993796	Human	1	name
155960713	CV2144220	single nucleotide variant	NM_018127.7(ELAC2):c.604A>G (p.Arg202Gly)	Combined oxidative phosphorylation defect type 17 [RCV003015450]	uncertain significance	17	13011738	13011738	Human	1	name
155989582	CV2151170	single nucleotide variant	NM_018127.7(ELAC2):c.491C>A (p.Ala164Asp)	Combined oxidative phosphorylation defect type 17 [RCV003016761]	uncertain significance	17	13013275	13013275	Human	1	name
156117781	CV2174101	single nucleotide variant	NM_018127.7(ELAC2):c.554T>C (p.Ile185Thr)	Combined oxidative phosphorylation defect type 17 [RCV003055346]	uncertain significance	17	13013212	13013212	Human	1	name
155923801	CV2212405	single nucleotide variant	NM_018127.7(ELAC2):c.829G>A (p.Ala277Thr)	Inborn genetic diseases [RCV002727811]\|Prostate cancer, hereditary, 2 [RCV005021680]	uncertain significance	17	13005794	13005794	Human	2	name
156382927	CV2223703	single nucleotide variant	NM_018127.7(ELAC2):c.931T>A (p.Cys311Ser)	Inborn genetic diseases [RCV002722878]	uncertain significance	17	13005041	13005041	Human	1	name
156126704	CV2223704	single nucleotide variant	NM_018127.7(ELAC2):c.937G>A (p.Asp313Asn)	Inborn genetic diseases [RCV002708194]	uncertain significance	17	13005035	13005035	Human	1	name
10768421	CV222557	insertion	NM_018127.7(ELAC2):c.1305-8_1305-7insTCTC	Combined oxidative phosphorylation defect type 17 [RCV000206377]\|not provided [RCV004567487]	benign\|uncertain significance	17	13000281	13000282	Human	1	name
156074677	CV2247904	single nucleotide variant	NM_018127.7(ELAC2):c.541T>G (p.Tyr181Asp)	Inborn genetic diseases [RCV002797599]	uncertain significance	17	13013225	13013225	Human	1	name
243054486	CV2418995	single nucleotide variant	NM_018127.7(ELAC2):c.497G>A (p.Arg166Gln)	Ovarian cancer [RCV003154678]	benign	17	13013269	13013269	Human	2	name
243054613	CV2419073	single nucleotide variant	NM_018127.7(ELAC2):c.425C>T (p.Pro142Leu)	Ovarian cancer [RCV003154757]	likely pathogenic	17	13015775	13015775	Human	2	name
401887328	CV2771890	single nucleotide variant	NM_018127.7(ELAC2):c.898C>T (p.Pro300Ser)	Inborn genetic diseases [RCV003352350]	uncertain significance	17	13005074	13005074	Human	1	name
405088068	CV2891163	single nucleotide variant	NM_018127.7(ELAC2):c.496C>T (p.Arg166Trp)	Combined oxidative phosphorylation defect type 17 [RCV003582646]	uncertain significance	17	13013270	13013270	Human	1	name
405075284	CV2897970	single nucleotide variant	NM_018127.7(ELAC2):c.597T>A (p.Ser199Arg)	Combined oxidative phosphorylation defect type 17 [RCV003581408]	uncertain significance	17	13011745	13011745	Human	1	name
405091024	CV2913394	single nucleotide variant	NM_018127.7(ELAC2):c.713C>T (p.Ser238Phe)	Combined oxidative phosphorylation defect type 17 [RCV003582881]	uncertain significance	17	13010638	13010638	Human	1	name
405059001	CV2947747	single nucleotide variant	NM_018127.7(ELAC2):c.368G>A (p.Gly123Glu)	Combined oxidative phosphorylation defect type 17 [RCV003741412]	uncertain significance	17	13015832	13015832	Human	1	name
405220066	CV3154356	deletion	NM_018127.7(ELAC2):c.1214del (p.Cys405fs)	Combined oxidative phosphorylation defect type 17 [RCV003847048]	pathogenic	17	13002445	13002445	Human	1	name
405233070	CV3157630	single nucleotide variant	NM_018127.7(ELAC2):c.557A>G (p.His186Arg)	Combined oxidative phosphorylation defect type 17 [RCV003865580]\|Inborn genetic diseases [RCV004369524]	uncertain significance	17	13013209	13013209	Human	2	name
405737418	CV3238758	single nucleotide variant	NM_018127.7(ELAC2):c.652A>G (p.Asn218Asp)	Inborn genetic diseases [RCV004380027]	uncertain significance	17	13011690	13011690	Human	1	name
405737426	CV3238759	single nucleotide variant	NM_018127.7(ELAC2):c.965A>G (p.Glu322Gly)	Inborn genetic diseases [RCV004380028]	uncertain significance	17	13005007	13005007	Human	1	name
596922938	CV3537475	single nucleotide variant	NM_018127.7(ELAC2):c.527A>T (p.Glu176Val)	not provided [RCV004787445]	uncertain significance	17	13013239	13013239	Human		name
596933012	CV3539641	single nucleotide variant	NM_018127.7(ELAC2):c.753A>C (p.Arg251Ser)	not provided [RCV004794266]	uncertain significance	17	13005965	13005965	Human		name
597667120	CV3670741	single nucleotide variant	NM_018127.7(ELAC2):c.707A>G (p.Asp236Gly)	Inborn genetic diseases [RCV004979641]	uncertain significance	17	13010644	13010644	Human	1	name
597667136	CV3670744	single nucleotide variant	NM_018127.7(ELAC2):c.817C>G (p.Pro273Ala)	Inborn genetic diseases [RCV004979644]	uncertain significance	17	13005806	13005806	Human	1	name
597932887	CV3742693	deletion	NM_018127.7(ELAC2):c.77_89del (p.Pro26fs)	Combined oxidative phosphorylation defect type 17 [RCV005076132]	pathogenic	17	13017859	13017871	Human	1	name
597893309	CV3743946	single nucleotide variant	NM_018127.7(ELAC2):c.857A>G (p.His286Arg)	Combined oxidative phosphorylation defect type 17 [RCV005071416]	uncertain significance	17	13005766	13005766	Human	1	name
597935542	CV3777509	single nucleotide variant	NM_018127.7(ELAC2):c.526G>T (p.Glu176Ter)	Combined oxidative phosphorylation defect type 17 [RCV005132422]	pathogenic	17	13013240	13013240	Human	1	name
597924431	CV3777945	single nucleotide variant	NM_018127.7(ELAC2):c.340C>T (p.His114Tyr)	Combined oxidative phosphorylation defect type 17 [RCV005130669]	uncertain significance	17	13016889	13016889	Human	1	name
597897342	CV3782376	single nucleotide variant	NM_018127.7(ELAC2):c.941A>G (p.Glu314Gly)	Combined oxidative phosphorylation defect type 17 [RCV005126601]	uncertain significance	17	13005031	13005031	Human	1	name
597917292	CV3789551	deletion	NM_018127.7(ELAC2):c.2278del (p.Met760fs)	Combined oxidative phosphorylation defect type 17 [RCV005129646]	pathogenic	17	12993021	12993021	Human	1	name
597920195	CV3811752	deletion	NM_018127.7(ELAC2):c.30_36del (p.Ala11fs)	Combined oxidative phosphorylation defect type 17 [RCV005155583]	pathogenic	17	13017912	13017918	Human	1	name
597934562	CV3845096	duplication	NM_018127.7(ELAC2):c.1093dup (p.Thr365fs)	Combined oxidative phosphorylation defect type 17 [RCV005186409]	pathogenic	17	13002565	13002566	Human	1	name
597929554	CV3862215	single nucleotide variant	NM_018127.7(ELAC2):c.467G>T (p.Gly156Val)	Combined oxidative phosphorylation defect type 17 [RCV005206456]	uncertain significance	17	13014462	13014462	Human	1	name
598179972	CV3961511	single nucleotide variant	NM_018127.7(ELAC2):c.581A>C (p.His194Pro)	Inborn genetic diseases [RCV005332613]	uncertain significance	17	13011761	13011761	Human	1	name
598179976	CV3961512	single nucleotide variant	NM_018127.7(ELAC2):c.784A>T (p.Met262Leu)	Inborn genetic diseases [RCV005332614]	likely benign	17	13005934	13005934	Human	1	name
12885138	CV401541	single nucleotide variant	NM_018127.7(ELAC2):c.325T>C (p.Phe109Leu)	Combined oxidative phosphorylation defect type 17 [RCV000464778]	uncertain significance	17	13016904	13016904	Human	1	name
12883771	CV401999	single nucleotide variant	NM_018127.7(ELAC2):c.347C>T (p.Ser116Phe)	Combined oxidative phosphorylation defect type 17 [RCV000462214]\|ELAC2-related disorder [RCV004755926]\|Prostate cancer, hereditary, 2 [RCV005235325]\|not provided [RCV001856810]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	13016882	13016882	Human	2	name , alternate_id
13506299	CV481140	single nucleotide variant	NM_018127.7(ELAC2):c.394G>A (p.Gly132Arg)	Combined oxidative phosphorylation defect type 17 [RCV000577942]	uncertain significance	17	13015806	13015806	Human	1	name
13508897	CV481370	deletion	NM_018127.7(ELAC2):c.2009del (p.Cys670fs)	Combined oxidative phosphorylation defect type 17 [RCV000578466]\|Inborn genetic diseases [RCV002529038]\|not provided [RCV003884652]	pathogenic	17	12994784	12994784	Human	2	name
13508880	CV481372	single nucleotide variant	NM_018127.7(ELAC2):c.929A>C (p.Glu310Ala)	Combined oxidative phosphorylation defect type 17 [RCV000578392]	likely pathogenic	17	13005043	13005043	Human	1	name
13810920	CV568704	single nucleotide variant	NM_018127.7(ELAC2):c.385A>G (p.Lys129Glu)	Combined oxidative phosphorylation defect type 17 [RCV000702822]	uncertain significance	17	13015815	13015815	Human	1	name
13814000	CV574304	single nucleotide variant	NM_018127.7(ELAC2):c.512C>T (p.Pro171Leu)	Combined oxidative phosphorylation defect type 17 [RCV000704734]\|Inborn genetic diseases [RCV002533716]	uncertain significance	17	13013254	13013254	Human	2	name
14712378	CV645315	single nucleotide variant	NM_018127.7(ELAC2):c.856C>T (p.His286Tyr)	Combined oxidative phosphorylation defect type 17 [RCV000793780]	uncertain significance	17	13005767	13005767	Human	1	name
14744859	CV645316	single nucleotide variant	NM_018127.7(ELAC2):c.520G>T (p.Glu174Ter)	Combined oxidative phosphorylation defect type 17 [RCV000824367]	pathogenic\|uncertain significance	17	13013246	13013246	Human	1	name
15120324	CV684660	single nucleotide variant	NM_018127.7(ELAC2):c.700G>A (p.Val234Ile)	Combined oxidative phosphorylation defect type 17 [RCV000861668]\|ELAC2-related disorder [RCV004756048]	likely benign	17	13010651	13010651	Human	2	name , alternate_id
8573539	CV76942	single nucleotide variant	NM_018127.7(ELAC2):c.751A>T (p.Arg251Ter)	Combined oxidative phosphorylation defect type 17 [RCV000056275]	pathogenic	17	13005967	13005967	Human	1	name
8621904	CV76943	single nucleotide variant	NM_018127.7(ELAC2):c.460T>C (p.Phe154Leu)	Combined oxidative phosphorylation defect type 17 [RCV000056276]\|Prostate cancer, hereditary, 2, susceptibility to [RCV004527310]	pathogenic	17	13014469	13014469	Human	1	name
21075586	CV797485	single nucleotide variant	NM_018127.7(ELAC2):c.422C>T (p.Pro141Leu)	Combined oxidative phosphorylation defect type 17 [RCV002549940]\|not provided [RCV000996497]	uncertain significance	17	13015778	13015778	Human	1	name
26914248	CV844714	single nucleotide variant	NM_018127.7(ELAC2):c.677A>G (p.His226Arg)	Combined oxidative phosphorylation defect type 17 [RCV001040544]\|Inborn genetic diseases [RCV005328474]\|not provided [RCV002281154]	likely benign\|uncertain significance	17	13011665	13011665	Human	2	name
26897248	CV844715	single nucleotide variant	NM_018127.7(ELAC2):c.520G>A (p.Glu174Lys)	Combined oxidative phosphorylation defect type 17 [RCV001048446]\|Ovarian cancer [RCV003153908]\|Prostate cancer, hereditary, 2 [RCV002505590]	benign\|uncertain significance	17	13013246	13013246	Human	4	name
38476115	CV928062	single nucleotide variant	NM_018127.7(ELAC2):c.395G>C (p.Gly132Ala)	Combined oxidative phosphorylation defect type 17 [RCV001215491]\|not provided [RCV004695193]	uncertain significance	17	13015805	13015805	Human	1	name
38457103	CV957984	single nucleotide variant	NM_018127.7(ELAC2):c.949A>G (p.Ile317Val)	Combined oxidative phosphorylation defect type 17 [RCV001245984]	uncertain significance	17	13005023	13005023	Human	1	name
126765990	CV997330	single nucleotide variant	NM_018127.7(ELAC2):c.908G>C (p.Gly303Ala)	Combined oxidative phosphorylation defect type 17 [RCV001301706]	uncertain significance	17	13005064	13005064	Human	1	name
151858427	CV1347642	single nucleotide variant	NM_018127.7(ELAC2):c.1283G>A (p.Arg428His)	Combined oxidative phosphorylation defect type 17 [RCV002034065]\|not provided [RCV004774618]	uncertain significance	17	13002295	13002295	Human	1	name
151890777	CV1350644	single nucleotide variant	NM_018127.7(ELAC2):c.1585G>A (p.Gly529Arg)	Combined oxidative phosphorylation defect type 17 [RCV002038903]	uncertain significance	17	12996621	12996621	Human	1	name
151866591	CV1354942	single nucleotide variant	NM_018127.7(ELAC2):c.1796T>C (p.Leu599Pro)	Combined oxidative phosphorylation defect type 17 [RCV001924680]	uncertain significance	17	12995715	12995715	Human	1	name
151876926	CV1360341	single nucleotide variant	NM_018127.7(ELAC2):c.2324T>A (p.Ile775Asn)	Combined oxidative phosphorylation defect type 17 [RCV001907182]\|not provided [RCV004693814]	uncertain significance	17	12992975	12992975	Human	1	name
151863975	CV1361057	single nucleotide variant	NM_018127.7(ELAC2):c.2459C>G (p.Ala820Gly)	Combined oxidative phosphorylation defect type 17 [RCV001905668]	uncertain significance	17	12992840	12992840	Human	1	name
151841615	CV1361358	single nucleotide variant	NM_018127.7(ELAC2):c.1078A>T (p.Arg360Trp)	Combined oxidative phosphorylation defect type 17 [RCV001881423]\|not provided [RCV003107876]	uncertain significance	17	13003480	13003480	Human	1	name
151860180	CV1400045	single nucleotide variant	NM_018127.7(ELAC2):c.1940A>T (p.His647Leu)	Combined oxidative phosphorylation defect type 17 [RCV001980025]	uncertain significance	17	12994853	12994853	Human	1	name
151891534	CV1410116	single nucleotide variant	NM_018127.7(ELAC2):c.1049T>G (p.Val350Gly)	Combined oxidative phosphorylation defect type 17 [RCV001943407]	uncertain significance	17	13003509	13003509	Human	1	name
151868349	CV1419155	single nucleotide variant	NM_018127.7(ELAC2):c.2026A>G (p.Met676Val)	Combined oxidative phosphorylation defect type 17 [RCV001960108]	uncertain significance	17	12994767	12994767	Human	1	name
151867037	CV1422492	single nucleotide variant	NM_018127.7(ELAC2):c.1820C>T (p.Ala607Val)	Combined oxidative phosphorylation defect type 17 [RCV001884664]	uncertain significance	17	12995051	12995051	Human	1	name
151849197	CV1431236	single nucleotide variant	NM_018127.7(ELAC2):c.1238G>A (p.Ser413Asn)	Combined oxidative phosphorylation defect type 17 [RCV001922537]	uncertain significance	17	13002340	13002340	Human	1	name
151848391	CV1433589	single nucleotide variant	NM_018127.7(ELAC2):c.1646C>T (p.Ala549Val)	Combined oxidative phosphorylation defect type 17 [RCV001978598]	uncertain significance	17	12996560	12996560	Human	1	name
151854744	CV1453727	single nucleotide variant	NM_018127.7(ELAC2):c.1988A>G (p.Tyr663Cys)	Combined oxidative phosphorylation defect type 17 [RCV001883191]	uncertain significance	17	12994805	12994805	Human	1	name
151862367	CV1457988	single nucleotide variant	NM_018127.7(ELAC2):c.1400C>T (p.Ala467Val)	Combined oxidative phosphorylation defect type 17 [RCV001938718]	uncertain significance	17	13000179	13000179	Human	1	name
151850863	CV1461961	single nucleotide variant	NM_018127.7(ELAC2):c.2221G>A (p.Glu741Lys)	Combined oxidative phosphorylation defect type 17 [RCV001978916]	uncertain significance	17	12993719	12993719	Human	1	name
151854797	CV1473662	single nucleotide variant	NM_018127.7(ELAC2):c.1865A>G (p.Glu622Gly)	Combined oxidative phosphorylation defect type 17 [RCV001904552]\|Prostate cancer, hereditary, 2 [RCV002489990]\|not provided [RCV004693811]	uncertain significance	17	12995006	12995006	Human	2	name
151877793	CV1481143	single nucleotide variant	NM_018127.7(ELAC2):c.1955C>T (p.Ala652Val)	Combined oxidative phosphorylation defect type 17 [RCV001982125]\|not provided [RCV005421062]	uncertain significance	17	12994838	12994838	Human	1	name
151882144	CV1484478	single nucleotide variant	NM_018127.7(ELAC2):c.1441C>G (p.Pro481Ala)	Combined oxidative phosphorylation defect type 17 [RCV001941227]	uncertain significance	17	12998491	12998491	Human	1	name
151871657	CV1487741	single nucleotide variant	NM_018127.7(ELAC2):c.1928G>A (p.Arg643Gln)	Combined oxidative phosphorylation defect type 17 [RCV001981377]	uncertain significance	17	12994865	12994865	Human	1	name
151846053	CV1501719	single nucleotide variant	NM_018127.7(ELAC2):c.2209C>T (p.Pro737Ser)	Combined oxidative phosphorylation defect type 17 [RCV002015923]	uncertain significance	17	12993731	12993731	Human	1	name
151858043	CV1503391	single nucleotide variant	NM_018127.7(ELAC2):c.2426A>T (p.Gln809Leu)	Combined oxidative phosphorylation defect type 17 [RCV001979768]\|Inborn genetic diseases [RCV004616910]	uncertain significance	17	12992873	12992873	Human	2	name
151874381	CV1511486	single nucleotide variant	NM_018127.7(ELAC2):c.1305G>T (p.Arg435Ser)	Combined oxidative phosphorylation defect type 17 [RCV001960862]\|Inborn genetic diseases [RCV002569188]	uncertain significance	17	13000274	13000274	Human	2	name
155713949	CV1775966	single nucleotide variant	NM_018127.7(ELAC2):c.2255T>C (p.Val752Ala)	Combined oxidative phosphorylation defect type 17 [RCV002296309]	uncertain significance	17	12993044	12993044	Human	1	name
155679378	CV1776529	single nucleotide variant	NM_018127.7(ELAC2):c.1848C>G (p.Ile616Met)	Combined oxidative phosphorylation defect type 17 [RCV002298109]	uncertain significance	17	12995023	12995023	Human	1	name
155683055	CV1776794	single nucleotide variant	NM_018127.7(ELAC2):c.2458G>A (p.Ala820Thr)	Combined oxidative phosphorylation defect type 17 [RCV002298330]	uncertain significance	17	12992841	12992841	Human	1	name
155741113	CV1777171	single nucleotide variant	NM_018127.7(ELAC2):c.1081T>G (p.Phe361Val)	Combined oxidative phosphorylation defect type 17 [RCV002302424]	uncertain significance	17	13002578	13002578	Human	1	name
155697660	CV1777266	single nucleotide variant	NM_018127.7(ELAC2):c.1255G>A (p.Gly419Ser)	Combined oxidative phosphorylation defect type 17 [RCV002295411]	uncertain significance	17	13002323	13002323	Human	1	name
155800035	CV1862767	single nucleotide variant	NM_018127.7(ELAC2):c.1033C>T (p.Pro345Ser)	Combined oxidative phosphorylation defect type 17 [RCV002472174]	uncertain significance	17	13003525	13003525	Human	1	name
156375018	CV1871895	single nucleotide variant	NM_018127.7(ELAC2):c.2332A>C (p.Met778Leu)	Combined oxidative phosphorylation defect type 17 [RCV003066638]	uncertain significance	17	12992967	12992967	Human	1	name
156409114	CV1877563	single nucleotide variant	NM_018127.7(ELAC2):c.1889G>A (p.Arg630Gln)	Combined oxidative phosphorylation defect type 17 [RCV003071534]\|Inborn genetic diseases [RCV004617178]	uncertain significance	17	12994982	12994982	Human	2	name
156309749	CV1878105	single nucleotide variant	NM_018127.7(ELAC2):c.2323A>G (p.Ile775Val)	Combined oxidative phosphorylation defect type 17 [RCV003062381]	uncertain significance	17	12992976	12992976	Human	1	name
156355669	CV1880288	single nucleotide variant	NM_018127.7(ELAC2):c.1405G>A (p.Asp469Asn)	Combined oxidative phosphorylation defect type 17 [RCV003065216]	uncertain significance	17	13000174	13000174	Human	1	name
156272577	CV1880385	single nucleotide variant	NM_018127.7(ELAC2):c.1715C>T (p.Pro572Leu)	Combined oxidative phosphorylation defect type 17 [RCV003060773]	uncertain significance	17	12995796	12995796	Human	1	name
156410871	CV1882812	single nucleotide variant	NM_018127.7(ELAC2):c.2326G>A (p.Glu776Lys)	Combined oxidative phosphorylation defect type 17 [RCV003072239]	uncertain significance	17	12992973	12992973	Human	1	name
156050124	CV1884358	single nucleotide variant	NM_018127.7(ELAC2):c.2412G>T (p.Glu804Asp)	Combined oxidative phosphorylation defect type 17 [RCV003078840]	uncertain significance	17	12992887	12992887	Human	1	name
156015985	CV1885213	single nucleotide variant	NM_018127.7(ELAC2):c.1214G>A (p.Cys405Tyr)	Combined oxidative phosphorylation defect type 17 [RCV003077363]	uncertain significance	17	13002445	13002445	Human	1	name
156045387	CV1887432	single nucleotide variant	NM_018127.7(ELAC2):c.1778A>G (p.Asn593Ser)	Combined oxidative phosphorylation defect type 17 [RCV003078681]	uncertain significance	17	12995733	12995733	Human	1	name
156175204	CV1891598	single nucleotide variant	NM_018127.7(ELAC2):c.2249T>C (p.Met750Thr)	Combined oxidative phosphorylation defect type 17 [RCV003083369]	conflicting interpretations of pathogenicity\|uncertain significance	17	12993691	12993691	Human	1	name
156309986	CV1895272	single nucleotide variant	NM_018127.7(ELAC2):c.1648G>T (p.Asp550Tyr)	Combined oxidative phosphorylation defect type 17 [RCV003088384]	uncertain significance	17	12996558	12996558	Human	1	name
156303521	CV1898389	single nucleotide variant	NM_018127.7(ELAC2):c.1690C>T (p.Arg564Cys)	Combined oxidative phosphorylation defect type 17 [RCV003088053]	uncertain significance	17	12995948	12995948	Human	1	name
156258291	CV1906368	single nucleotide variant	NM_018127.7(ELAC2):c.1052A>G (p.Asp351Gly)	Combined oxidative phosphorylation defect type 17 [RCV003086348]	uncertain significance	17	13003506	13003506	Human	1	name
156038622	CV1918390	single nucleotide variant	NM_018127.7(ELAC2):c.1693G>A (p.Ala565Thr)	Combined oxidative phosphorylation defect type 17 [RCV002620159]	uncertain significance	17	12995945	12995945	Human	1	name
156371452	CV1920312	single nucleotide variant	NM_018127.7(ELAC2):c.1729C>G (p.Leu577Val)	Combined oxidative phosphorylation defect type 17 [RCV002603208]	uncertain significance	17	12995782	12995782	Human	1	name
156157245	CV1926293	single nucleotide variant	NM_018127.7(ELAC2):c.2233G>A (p.Val745Ile)	Combined oxidative phosphorylation defect type 17 [RCV002624226]	uncertain significance	17	12993707	12993707	Human	1	name
156045304	CV1927071	single nucleotide variant	NM_018127.7(ELAC2):c.1147C>T (p.His383Tyr)	Combined oxidative phosphorylation defect type 17 [RCV002637735]	uncertain significance	17	13002512	13002512	Human	1	name
156415665	CV1955544	single nucleotide variant	NM_018127.7(ELAC2):c.1639C>A (p.Leu547Met)	Combined oxidative phosphorylation defect type 17 [RCV002589295]\|Inborn genetic diseases [RCV002589296]	uncertain significance	17	12996567	12996567	Human	2	name
156326376	CV1972732	single nucleotide variant	NM_018127.7(ELAC2):c.2390G>A (p.Arg797Lys)	Combined oxidative phosphorylation defect type 17 [RCV002600549]	uncertain significance	17	12992909	12992909	Human	1	name
156137412	CV1973441	single nucleotide variant	NM_018127.7(ELAC2):c.1670G>A (p.Ser557Asn)	Combined oxidative phosphorylation defect type 17 [RCV002593711]	uncertain significance	17	12995968	12995968	Human	1	name
156395333	CV1980342	single nucleotide variant	NM_018127.7(ELAC2):c.1937A>G (p.Lys646Arg)	Combined oxidative phosphorylation defect type 17 [RCV002605085]	uncertain significance	17	12994856	12994856	Human	1	name
156396816	CV1980601	single nucleotide variant	NM_018127.7(ELAC2):c.1349C>T (p.Ala450Val)	Combined oxidative phosphorylation defect type 17 [RCV002605193]	uncertain significance	17	13000230	13000230	Human	1	name
156282283	CV2001466	single nucleotide variant	NM_018127.7(ELAC2):c.2096A>C (p.Glu699Ala)	Combined oxidative phosphorylation defect type 17 [RCV002646884]	uncertain significance	17	12994437	12994437	Human	1	name
156371260	CV2007778	single nucleotide variant	NM_018127.7(ELAC2):c.1928G>T (p.Arg643Leu)	Combined oxidative phosphorylation defect type 17 [RCV002676921]	uncertain significance	17	12994865	12994865	Human	1	name
8558447	CV20095	single nucleotide variant	NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr)	Combined oxidative phosphorylation defect type 17 [RCV000477360]\|Prostate cancer, hereditary, 2 [RCV000005359]\|Prostate cancer, hereditary, 2 [RCV002490321]\|not provided [RCV000676439]\|not specified [RCV000429965]	pathogenic\|benign\|likely benign	17	12996585	12996585	Human	2	name
156161630	CV2009553	single nucleotide variant	NM_018127.7(ELAC2):c.1418C>A (p.Pro473Gln)	Combined oxidative phosphorylation defect type 17 [RCV002710193]	uncertain significance	17	13000161	13000161	Human	1	name
8558448	CV20097	single nucleotide variant	NM_018127.7(ELAC2):c.2342G>A (p.Arg781His)	Combined oxidative phosphorylation defect type 17 [RCV000470586]\|Inborn genetic diseases [RCV002512804]\|Prostate cancer, hereditary, 2 [RCV000005361]\|not provided [RCV000523886]	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	12992957	12992957	Human	3	name
8558449	CV20098	single nucleotide variant	NM_018127.7(ELAC2):c.1865A>T (p.Glu622Val)	Combined oxidative phosphorylation defect type 17 [RCV000230766]\|Prostate cancer, hereditary, 2 [RCV000005362]	pathogenic\|benign	17	12995006	12995006	Human	2	name
156281961	CV2016386	single nucleotide variant	NM_018127.7(ELAC2):c.1675T>G (p.Leu559Val)	Combined oxidative phosphorylation defect type 17 [RCV002715330]	uncertain significance	17	12995963	12995963	Human	1	name
156360127	CV2016581	single nucleotide variant	NM_018127.7(ELAC2):c.1507C>T (p.Leu503Phe)	Combined oxidative phosphorylation defect type 17 [RCV002720804]\|Inborn genetic diseases [RCV002720805]	uncertain significance	17	12998425	12998425	Human	2	name
156079721	CV2022648	single nucleotide variant	NM_018127.7(ELAC2):c.1039T>C (p.Ser347Pro)	Combined oxidative phosphorylation defect type 17 [RCV002760585]	uncertain significance	17	13003519	13003519	Human	1	name
156197313	CV2024404	single nucleotide variant	NM_018127.7(ELAC2):c.1630G>T (p.Val544Leu)	Combined oxidative phosphorylation defect type 17 [RCV002711283]	uncertain significance	17	12996576	12996576	Human	1	name
156319990	CV2025271	single nucleotide variant	NM_018127.7(ELAC2):c.1673T>C (p.Ile558Thr)	Combined oxidative phosphorylation defect type 17 [RCV002717027]	uncertain significance	17	12995965	12995965	Human	1	name
155948353	CV2036165	single nucleotide variant	NM_018127.7(ELAC2):c.1248G>A (p.Met416Ile)	Combined oxidative phosphorylation defect type 17 [RCV002775631]	uncertain significance	17	13002330	13002330	Human	1	name
156238071	CV2047104	single nucleotide variant	NM_018127.7(ELAC2):c.2380C>T (p.Leu794Phe)	Combined oxidative phosphorylation defect type 17 [RCV002805571]	uncertain significance	17	12992919	12992919	Human	1	name
156290021	CV2047171	single nucleotide variant	NM_018127.7(ELAC2):c.1431A>T (p.Arg477Ser)	Combined oxidative phosphorylation defect type 17 [RCV002770727]	uncertain significance	17	12998501	12998501	Human	1	name
156012071	CV2051490	single nucleotide variant	NM_018127.7(ELAC2):c.1348G>T (p.Ala450Ser)	Combined oxidative phosphorylation defect type 17 [RCV002820174]	uncertain significance	17	13000231	13000231	Human	1	name
156323931	CV2053949	single nucleotide variant	NM_018127.7(ELAC2):c.2457G>C (p.Gln819His)	Combined oxidative phosphorylation defect type 17 [RCV002810265]	uncertain significance	17	12992842	12992842	Human	1	name
156019308	CV2061827	single nucleotide variant	NM_018127.7(ELAC2):c.2402G>A (p.Gly801Asp)	Combined oxidative phosphorylation defect type 17 [RCV002820535]	uncertain significance	17	12992897	12992897	Human	1	name
155958110	CV2066546	single nucleotide variant	NM_018127.7(ELAC2):c.2227G>A (p.Val743Met)	Combined oxidative phosphorylation defect type 17 [RCV002816631]	uncertain significance	17	12993713	12993713	Human	1	name
155936187	CV2074858	single nucleotide variant	NM_018127.7(ELAC2):c.1864G>T (p.Glu622Ter)	Combined oxidative phosphorylation defect type 17 [RCV002861453]	pathogenic	17	12995007	12995007	Human	1	name
155938580	CV2075204	single nucleotide variant	NM_018127.7(ELAC2):c.1463C>G (p.Thr488Arg)	Combined oxidative phosphorylation defect type 17 [RCV002861616]	uncertain significance	17	12998469	12998469	Human	1	name
156126524	CV2088413	single nucleotide variant	NM_018127.7(ELAC2):c.1861G>C (p.Val621Leu)	Combined oxidative phosphorylation defect type 17 [RCV002871471]	uncertain significance	17	12995010	12995010	Human	1	name
156046237	CV2091223	single nucleotide variant	NM_018127.7(ELAC2):c.1030G>A (p.Ala344Thr)	Combined oxidative phosphorylation defect type 17 [RCV002886000]	uncertain significance	17	13003528	13003528	Human	1	name
156325189	CV2097515	single nucleotide variant	NM_018127.7(ELAC2):c.1394G>A (p.Arg465Lys)	Combined oxidative phosphorylation defect type 17 [RCV002899582]	uncertain significance	17	13000185	13000185	Human	1	name
156206411	CV2103747	single nucleotide variant	NM_018127.7(ELAC2):c.1481T>C (p.Met494Thr)	Combined oxidative phosphorylation defect type 17 [RCV002931881]	uncertain significance	17	12998451	12998451	Human	1	name
155938472	CV2110508	single nucleotide variant	NM_018127.7(ELAC2):c.2320G>A (p.Asp774Asn)	Combined oxidative phosphorylation defect type 17 [RCV002904303]	uncertain significance	17	12992979	12992979	Human	1	name
155962248	CV2131962	single nucleotide variant	NM_018127.7(ELAC2):c.1137C>A (p.Asn379Lys)	Combined oxidative phosphorylation defect type 17 [RCV002995214]\|not provided [RCV004593114]	uncertain significance	17	13002522	13002522	Human	1	name
156100031	CV2132528	single nucleotide variant	NM_018127.7(ELAC2):c.2449G>A (p.Glu817Lys)	Combined oxidative phosphorylation defect type 17 [RCV002979949]	uncertain significance	17	12992850	12992850	Human	1	name
155937981	CV2135147	single nucleotide variant	NM_018127.7(ELAC2):c.1289G>C (p.Arg430Thr)	Combined oxidative phosphorylation defect type 17 [RCV002993865]	uncertain significance	17	13002289	13002289	Human	1	name
155972118	CV2135819	single nucleotide variant	NM_018127.7(ELAC2):c.2183G>A (p.Arg728His)	Combined oxidative phosphorylation defect type 17 [RCV002995677]	uncertain significance	17	12993757	12993757	Human	1	name
156079125	CV2138080	single nucleotide variant	NM_018127.7(ELAC2):c.1550G>T (p.Gly517Val)	Combined oxidative phosphorylation defect type 17 [RCV002979196]	uncertain significance	17	12996656	12996656	Human	1	name
155962805	CV2140751	single nucleotide variant	NM_018127.7(ELAC2):c.1745A>G (p.Asn582Ser)	Combined oxidative phosphorylation defect type 17 [RCV003015554]\|Inborn genetic diseases [RCV005333422]	uncertain significance	17	12995766	12995766	Human	2	name
155912114	CV2141766	single nucleotide variant	NM_018127.7(ELAC2):c.2351A>G (p.Lys784Arg)	Combined oxidative phosphorylation defect type 17 [RCV002968131]\|not provided [RCV003427536]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	12992948	12992948	Human	1	name
156044067	CV2143610	single nucleotide variant	NM_018127.7(ELAC2):c.1476C>G (p.Ile492Met)	Combined oxidative phosphorylation defect type 17 [RCV002999643]	uncertain significance	17	12998456	12998456	Human	1	name
155903420	CV2151782	single nucleotide variant	NM_018127.7(ELAC2):c.1169A>G (p.Asn390Ser)	Combined oxidative phosphorylation defect type 17 [RCV003011773]	uncertain significance	17	13002490	13002490	Human	1	name
156112829	CV2154285	single nucleotide variant	NM_018127.7(ELAC2):c.2467G>A (p.Val823Ile)	Combined oxidative phosphorylation defect type 17 [RCV003021485]	uncertain significance	17	12992832	12992832	Human	1	name
156129091	CV2155632	single nucleotide variant	NM_018127.7(ELAC2):c.1171C>G (p.Leu391Val)	Combined oxidative phosphorylation defect type 17 [RCV003003285]	uncertain significance	17	13002488	13002488	Human	1	name
156090953	CV2155655	single nucleotide variant	NM_018127.7(ELAC2):c.2114C>A (p.Thr705Lys)	Combined oxidative phosphorylation defect type 17 [RCV003020682]	uncertain significance	17	12993826	12993826	Human	1	name
155909889	CV2156888	single nucleotide variant	NM_018127.7(ELAC2):c.2422C>T (p.Pro808Ser)	Combined oxidative phosphorylation defect type 17 [RCV003012173]	uncertain significance	17	12992877	12992877	Human	1	name
156269305	CV2167936	single nucleotide variant	NM_018127.7(ELAC2):c.1262G>C (p.Cys421Ser)	Combined oxidative phosphorylation defect type 17 [RCV003026929]	uncertain significance	17	13002316	13002316	Human	1	name
156218262	CV2171990	single nucleotide variant	NM_018127.7(ELAC2):c.2368G>A (p.Val790Met)	Combined oxidative phosphorylation defect type 17 [RCV003042613]	uncertain significance	17	12992931	12992931	Human	1	name
156232751	CV2173133	single nucleotide variant	NM_018127.7(ELAC2):c.1999A>G (p.Thr667Ala)	Combined oxidative phosphorylation defect type 17 [RCV003059369]	uncertain significance	17	12994794	12994794	Human	1	name
156079939	CV2173750	single nucleotide variant	NM_018127.7(ELAC2):c.1770G>C (p.Gln590His)	Combined oxidative phosphorylation defect type 17 [RCV003053992]	uncertain significance	17	12995741	12995741	Human	1	name
156008861	CV2175764	single nucleotide variant	NM_018127.7(ELAC2):c.1066C>T (p.Gln356Ter)	Combined oxidative phosphorylation defect type 17 [RCV003035130]	pathogenic	17	13003492	13003492	Human	1	name
156201575	CV2179013	single nucleotide variant	NM_018127.7(ELAC2):c.1062C>G (p.Tyr354Ter)	Combined oxidative phosphorylation defect type 17 [RCV003024471]	pathogenic	17	13003496	13003496	Human	1	name
156134593	CV2181441	single nucleotide variant	NM_018127.7(ELAC2):c.1434T>A (p.Ser478Arg)	Combined oxidative phosphorylation defect type 17 [RCV003039819]	uncertain significance	17	12998498	12998498	Human	1	name
156096292	CV2183574	single nucleotide variant	NM_018127.7(ELAC2):c.1679T>A (p.Leu560Gln)	Combined oxidative phosphorylation defect type 17 [RCV003054553]	uncertain significance	17	12995959	12995959	Human	1	name
156339963	CV2188532	single nucleotide variant	NM_018127.7(ELAC2):c.2465A>C (p.Lys822Thr)	Combined oxidative phosphorylation defect type 17 [RCV003064179]	uncertain significance	17	12992834	12992834	Human	1	name
156387229	CV2221449	single nucleotide variant	NM_018127.7(ELAC2):c.1043T>A (p.Val348Glu)	Inborn genetic diseases [RCV002723836]	uncertain significance	17	13003515	13003515	Human	1	name
156088763	CV2259073	single nucleotide variant	NM_018127.7(ELAC2):c.1979A>T (p.Lys660Ile)	Inborn genetic diseases [RCV002798374]	uncertain significance	17	12994814	12994814	Human	1	name
156173486	CV2284093	single nucleotide variant	NM_018127.7(ELAC2):c.1947T>G (p.Phe649Leu)	Inborn genetic diseases [RCV002873236]	uncertain significance	17	12994846	12994846	Human	1	name
156248927	CV2314112	single nucleotide variant	NM_018127.7(ELAC2):c.1403A>G (p.Gln468Arg)	Inborn genetic diseases [RCV002919794]	uncertain significance	17	13000176	13000176	Human	1	name
401725876	CV2687326	single nucleotide variant	NM_018127.7(ELAC2):c.2419G>A (p.Glu807Lys)	Inborn genetic diseases [RCV003246060]	uncertain significance	17	12992880	12992880	Human	1	name
401796680	CV2739660	single nucleotide variant	NM_018127.7(ELAC2):c.1478C>T (p.Pro493Leu)	not provided [RCV003319621]	likely pathogenic	17	12998454	12998454	Human		name
405065026	CV2983255	single nucleotide variant	NM_018127.7(ELAC2):c.2297C>A (p.Pro766Gln)	Combined oxidative phosphorylation defect type 17 [RCV003741908]	uncertain significance	17	12993002	12993002	Human	1	name
405074797	CV3046683	single nucleotide variant	NM_018127.7(ELAC2):c.1478C>G (p.Pro493Arg)	Combined oxidative phosphorylation defect type 17 [RCV003742535]	uncertain significance	17	12998454	12998454	Human	1	name
402469863	CV3174858	single nucleotide variant	NM_018127.7(ELAC2):c.1442C>T (p.Pro481Leu)	Combined oxidative phosphorylation defect type 17 [RCV003873969]	uncertain significance	17	12998490	12998490	Human	1	name
405737405	CV3238756	single nucleotide variant	NM_018127.7(ELAC2):c.1565G>A (p.Gly522Glu)	Inborn genetic diseases [RCV004380025]	uncertain significance	17	12996641	12996641	Human	1	name
407506415	CV3438224	single nucleotide variant	NM_018127.7(ELAC2):c.1006C>A (p.Pro336Thr)	Inborn genetic diseases [RCV004624694]	uncertain significance	17	13003552	13003552	Human	1	name
407506418	CV3438225	single nucleotide variant	NM_018127.7(ELAC2):c.1888C>G (p.Arg630Gly)	Inborn genetic diseases [RCV004624695]	likely benign	17	12994983	12994983	Human	1	name
408392574	CV3519504	single nucleotide variant	NM_018127.7(ELAC2):c.1484A>G (p.Lys495Arg)	not provided [RCV004763800]	uncertain significance	17	12998448	12998448	Human		name
408390896	CV3521069	single nucleotide variant	NM_018127.7(ELAC2):c.1365C>G (p.Asn455Lys)	not provided [RCV004762891]	uncertain significance	17	13000214	13000214	Human		name
408387886	CV3527252	single nucleotide variant	NM_018127.7(ELAC2):c.1112A>G (p.Asn371Ser)	not provided [RCV004773554]	uncertain significance	17	13002547	13002547	Human		name
597667126	CV3670742	single nucleotide variant	NM_018127.7(ELAC2):c.1255G>T (p.Gly419Cys)	Inborn genetic diseases [RCV004979642]	uncertain significance	17	13002323	13002323	Human	1	name
597667131	CV3670743	single nucleotide variant	NM_018127.7(ELAC2):c.1812G>A (p.Met604Ile)	Inborn genetic diseases [RCV004979643]	uncertain significance	17	12995059	12995059	Human	1	name
597887410	CV3741961	single nucleotide variant	NM_018127.7(ELAC2):c.2278A>T (p.Met760Leu)	Combined oxidative phosphorylation defect type 17 [RCV005070681]	uncertain significance	17	12993021	12993021	Human	1	name
597953755	CV3757112	single nucleotide variant	NM_018127.7(ELAC2):c.2041A>C (p.Thr681Pro)	Combined oxidative phosphorylation defect type 17 [RCV005079973]	uncertain significance	17	12994492	12994492	Human	1	name
597941725	CV3769243	single nucleotide variant	NM_018127.7(ELAC2):c.1071G>A (p.Trp357Ter)	Combined oxidative phosphorylation defect type 17 [RCV005118738]	pathogenic	17	13003487	13003487	Human	1	name
597894701	CV3773344	single nucleotide variant	NM_018127.7(ELAC2):c.1082T>G (p.Phe361Cys)	Combined oxidative phosphorylation defect type 17 [RCV005111251]	uncertain significance	17	13002577	13002577	Human	1	name
597940984	CV3785686	single nucleotide variant	NM_018127.7(ELAC2):c.1812G>T (p.Met604Ile)	Combined oxidative phosphorylation defect type 17 [RCV005133578]	uncertain significance	17	12995059	12995059	Human	1	name
597942478	CV3786234	single nucleotide variant	NM_018127.7(ELAC2):c.2359C>G (p.Leu787Val)	Combined oxidative phosphorylation defect type 17 [RCV005133925]	uncertain significance	17	12992940	12992940	Human	1	name
597929603	CV3789207	single nucleotide variant	NM_018127.7(ELAC2):c.1960G>C (p.Val654Leu)	Combined oxidative phosphorylation defect type 17 [RCV005131488]	uncertain significance	17	12994833	12994833	Human	1	name
597872032	CV3805239	single nucleotide variant	NM_018127.7(ELAC2):c.2452C>G (p.Pro818Ala)	Combined oxidative phosphorylation defect type 17 [RCV005148517]	uncertain significance	17	12992847	12992847	Human	1	name
597945429	CV3844230	single nucleotide variant	NM_018127.7(ELAC2):c.2362C>T (p.Arg788Trp)	Combined oxidative phosphorylation defect type 17 [RCV005188839]	uncertain significance	17	12992937	12992937	Human	1	name
598125932	CV3883361	single nucleotide variant	NM_018127.7(ELAC2):c.1943C>T (p.Ala648Val)	Combined oxidative phosphorylation defect type 17 [RCV005233232]	likely pathogenic	17	12994850	12994850	Human	1	name
598122999	CV3890149	single nucleotide variant	NM_018127.7(ELAC2):c.1775A>C (p.His592Pro)	not provided [RCV005250668]	uncertain significance	17	12995736	12995736	Human		name
598179963	CV3961509	single nucleotide variant	NM_018127.7(ELAC2):c.1252C>A (p.Gln418Lys)	Inborn genetic diseases [RCV005332611]	uncertain significance	17	13002326	13002326	Human	1	name
617150606	CV4018919	single nucleotide variant	NM_018127.7(ELAC2):c.1943C>G (p.Ala648Gly)	not provided [RCV005423327]	uncertain significance	17	12994850	12994850	Human		name
8621903	CV76941	single nucleotide variant	NM_018127.7(ELAC2):c.1559C>T (p.Thr520Ile)	Combined oxidative phosphorylation defect type 17 [RCV000056274]	pathogenic	17	12996647	12996647	Human	1	name
8621905	CV76944	single nucleotide variant	NM_018127.7(ELAC2):c.1267C>T (p.Leu423Phe)	Combined oxidative phosphorylation defect type 17 [RCV000056277]	pathogenic	17	13002311	13002311	Human	1	name
21068831	CV788904	single nucleotide variant	NM_018127.7(ELAC2):c.1299G>T (p.Trp433Cys)	Combined oxidative phosphorylation defect type 17 [RCV000985003]	uncertain significance	17	13002279	13002279	Human	1	name
21075583	CV797482	single nucleotide variant	NM_018127.7(ELAC2):c.2206A>C (p.Ser736Arg)	not provided [RCV000996494]	uncertain significance	17	12993734	12993734	Human		name
21075585	CV797484	single nucleotide variant	NM_018127.7(ELAC2):c.1930C>T (p.His644Tyr)	not provided [RCV000996496]	uncertain significance	17	12994863	12994863	Human		name
38597658	CV801912	single nucleotide variant	NM_018127.7(ELAC2):c.1378G>A (p.Val460Met)	Combined oxidative phosphorylation defect type 17 [RCV001860563]\|Microcephaly [RCV001252934]	uncertain significance	17	13000201	13000201	Human	3	name
26908946	CV844708	single nucleotide variant	NM_018127.7(ELAC2):c.2333T>C (p.Met778Thr)	Combined oxidative phosphorylation defect type 17 [RCV001038416]	uncertain significance	17	12992966	12992966	Human	1	name
26923441	CV844710	single nucleotide variant	NM_018127.7(ELAC2):c.2245C>T (p.His749Tyr)	Combined oxidative phosphorylation defect type 17 [RCV001063998]\|ELAC2-related disorder [RCV003425905]\|Prostate cancer, hereditary, 2 [RCV002482078]	likely pathogenic\|uncertain significance	17	12993695	12993695	Human	2	name , alternate_id
26916774	CV844711	single nucleotide variant	NM_018127.7(ELAC2):c.2123C>T (p.Ala708Val)	Combined oxidative phosphorylation defect type 17 [RCV001056567]	uncertain significance	17	12993817	12993817	Human	1	name
26909358	CV844712	single nucleotide variant	NM_018127.7(ELAC2):c.2024G>A (p.Arg675Gln)	Combined oxidative phosphorylation defect type 17 [RCV001052709]\|Inborn genetic diseases [RCV004031655]	likely benign\|uncertain significance	17	12994769	12994769	Human	2	name
26916771	CV844713	single nucleotide variant	NM_018127.7(ELAC2):c.1177C>T (p.His393Tyr)	Combined oxidative phosphorylation defect type 17 [RCV001056566]\|not specified [RCV001815020]	uncertain significance	17	13002482	13002482	Human	1	name
26902810	CV858260	single nucleotide variant	NM_018127.7(ELAC2):c.1567C>T (p.Gln523Ter)	Combined oxidative phosphorylation defect type 17 [RCV001862660]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	17	12996639	12996639	Human	1	name
26902812	CV858261	single nucleotide variant	NM_018127.7(ELAC2):c.1532C>A (p.Ser511Tyr)	Combined oxidative phosphorylation defect type 17 [RCV001862661]	uncertain significance	17	12996674	12996674	Human	1	name
38491905	CV928060	single nucleotide variant	NM_018127.7(ELAC2):c.1286C>G (p.Pro429Arg)	Combined oxidative phosphorylation defect type 17 [RCV001223166]	uncertain significance	17	13002292	13002292	Human	1	name
38456298	CV937725	single nucleotide variant	NM_018127.7(ELAC2):c.1129G>T (p.Val377Phe)	Combined oxidative phosphorylation defect type 17 [RCV001210775]	uncertain significance	17	13002530	13002530	Human	1	name
38490480	CV949705	single nucleotide variant	NM_018127.7(ELAC2):c.1658C>T (p.Thr553Met)	Combined oxidative phosphorylation defect type 17 [RCV001238851]	uncertain significance	17	12996548	12996548	Human	1	name
38492321	CV957983	single nucleotide variant	NM_018127.7(ELAC2):c.2011G>A (p.Glu671Lys)	Combined oxidative phosphorylation defect type 17 [RCV001240012]	uncertain significance	17	12994782	12994782	Human	1	name
12882779	CV401537	duplication	NM_018127.7(ELAC2):c.2353_2415dup (p.Arg785_Asp805dup)	Combined oxidative phosphorylation defect type 17 [RCV000460318]\|ELAC2-related disorder [RCV003942484]\|Inborn genetic diseases [RCV002526419]\|not provided [RCV004721371]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	12992883	12992884	Human	3	alternate_id
13814864	CV570763	single nucleotide variant	NM_018127.7(ELAC2):c.1211G>T (p.Arg404Leu)	Combined oxidative phosphorylation defect type 17 [RCV000691176]\|ELAC2-related disorder [RCV004756013]	likely benign\|uncertain significance	17	13002448	13002448	Human	2	alternate_id
150423412	CV1185216	insertion	NM_018127.7(ELAC2):c.1305-12_1305-11insCTCT	not provided [RCV001555284]	likely benign	17	13000285	13000286	Human		name

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