Nars Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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540 records found for search term Nars

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
12835066	CV372720	single nucleotide variant	NM_024678.6(NARS2):c.*4G>A	not provided [RCV001703664]	benign\|likely benign	11	78436666	78436666	Human		name
150482251	CV1279940	single nucleotide variant	NM_004539.4(NARS1):c.*18G>A	not provided [RCV001714993]	benign	18	57601634	57601634	Human		name
12835963	CV371739	single nucleotide variant	NM_024678.6(NARS2):c.-27C>A	not provided [RCV004708847]\|not specified [RCV000422586]	benign	11	78574515	78574515	Human		name
12842325	CV372464	single nucleotide variant	NM_024678.6(NARS2):c.-22G>A	not specified [RCV000434198]	likely benign	11	78574510	78574510	Human		name
12840020	CV372467	single nucleotide variant	NM_024678.6(NARS2):c.-25C>G	not specified [RCV000429907]	likely benign	11	78574513	78574513	Human		name
12839270	CV374373	single nucleotide variant	NM_024678.6(NARS2):c.-32C>T	not specified [RCV000428495]	likely benign	11	78574520	78574520	Human		name
13540251	CV504466	single nucleotide variant	NM_024678.6(NARS2):c.-38T>C	not specified [RCV000614435]	likely benign	11	78574526	78574526	Human		name
150405996	CV1177515	single nucleotide variant	NM_024678.6(NARS2):c.-267C>G	not provided [RCV001545113]	likely benign	11	78574755	78574755	Human		name
150404490	CV1194574	duplication	NM_024678.6(NARS2):c.*140dup	not provided [RCV001571180]	likely benign	11	78436529	78436530	Human		name
150489244	CV1237619	single nucleotide variant	NM_024678.6(NARS2):c.*199C>T	not provided [RCV001654468]	benign	11	78436471	78436471	Human		name
155954178	CV1936239	single nucleotide variant	NM_004539.4(NARS1):c.94-2A>G	not provided [RCV002511900]	uncertain significance	18	57615977	57615977	Human		name
401796701	CV2739681	single nucleotide variant	NM_004539.4(NARS1):c.94-2A>T	not provided [RCV003319642]	uncertain significance	18	57615977	57615977	Human		name
12842416	CV372729	single nucleotide variant	NM_024678.6(NARS2):c.-342T>A	not provided [RCV004707228]\|not specified [RCV000434362]	benign	11	78574830	78574830	Human		name
126740904	CV1020950	single nucleotide variant	NM_024678.6(NARS2):c.141+5G>C	Combined oxidative phosphorylation defect type 24 [RCV001336121]	uncertain significance	11	78574343	78574343	Human	1	name
150413293	CV1198271	single nucleotide variant	NM_024678.6(NARS2):c.594+1G>C	not provided [RCV001574574]	uncertain significance	11	78559538	78559538	Human		name
151855877	CV1421679	single nucleotide variant	NM_024678.6(NARS2):c.690-4G>A	not provided [RCV001937942]	likely benign\|uncertain significance	11	78493199	78493199	Human		name
151774349	CV1455533	single nucleotide variant	NM_024678.6(NARS2):c.689+6A>G	Combined oxidative phosphorylation defect type 24 [RCV005008412]\|Inborn genetic diseases [RCV002545575]\|NARS2-related disorder [RCV003923406]\|not provided [RCV002045549]	likely benign\|uncertain significance	11	78528836	78528836	Human	3	name , trait , alternate_id
152084009	CV1533391	single nucleotide variant	NM_024678.6(NARS2):c.142-4T>C	not provided [RCV002093228]	likely benign	11	78571448	78571448	Human		name
155954166	CV1936238	single nucleotide variant	NM_004539.4(NARS1):c.421+1G>A	not provided [RCV002511899]	likely pathogenic	18	57613601	57613601	Human		name
156396868	CV1959088	single nucleotide variant	NM_024678.6(NARS2):c.823-5C>T	not provided [RCV002584443]	likely benign	11	78478688	78478688	Human		name
156117018	CV1994007	single nucleotide variant	NM_024678.6(NARS2):c.252-6C>G	not provided [RCV002662706]	uncertain significance	11	78568758	78568758	Human		name
156042364	CV2026444	single nucleotide variant	NM_024678.6(NARS2):c.823-3T>C	not provided [RCV002736233]	uncertain significance	11	78478686	78478686	Human		name
156197924	CV2237364	single nucleotide variant	NM_024678.6(NARS2):c.373-4G>A	Inborn genetic diseases [RCV002743252]\|not provided [RCV003546880]	likely benign\|uncertain significance	11	78566276	78566276	Human	1	name
156434210	CV2401867	single nucleotide variant	NM_024678.6(NARS2):c.595-1G>A	Combined oxidative phosphorylation defect type 24 [RCV003110150]	pathogenic	11	78528937	78528937	Human	1	name
11633789	CV264643	single nucleotide variant	NM_024678.6(NARS2):c.822+2T>G	not provided [RCV000367898]	pathogenic	11	78493061	78493061	Human		name
402469666	CV2931058	single nucleotide variant	NM_024678.6(NARS2):c.252-4A>C	not provided [RCV003570154]	likely benign	11	78568756	78568756	Human		name
405207699	CV3064698	single nucleotide variant	NM_024678.6(NARS2):c.513+8C>T	not provided [RCV003731549]	likely benign	11	78566124	78566124	Human		name
405766082	CV3328416	single nucleotide variant	NM_004539.4(NARS1):c.342+4A>G	not provided [RCV005256975]\|not specified [RCV004469470]	uncertain significance	18	57615637	57615637	Human		name
407428354	CV3410175	single nucleotide variant	NM_004539.4(NARS1):c.343-1G>T	not specified [RCV004587782]	uncertain significance	18	57613681	57613681	Human		name
408390937	CV3527808	single nucleotide variant	NM_004539.4(NARS1):c.252+5G>T	not provided [RCV004775077]	uncertain significance	18	57615812	57615812	Human		name
596925798	CV3535949	single nucleotide variant	NM_004539.4(NARS1):c.493-1G>T	Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities [RCV004788379]	uncertain significance	18	57609444	57609444	Human	1	name
12842649	CV371736	single nucleotide variant	NM_024678.6(NARS2):c.252-3T>A	not provided [RCV000969263]\|not specified [RCV000434809]	benign	11	78568755	78568755	Human		name
597712901	CV3732987	single nucleotide variant	NM_024678.6(NARS2):c.252-2A>G	Combined oxidative phosphorylation defect type 24 [RCV005052176]	likely pathogenic	11	78568754	78568754	Human	2	name
12838804	CV374371	single nucleotide variant	NM_024678.6(NARS2):c.252-5T>C	not provided [RCV000969264]\|not specified [RCV000427632]	benign	11	78568757	78568757	Human		name
13442639	CV434641	single nucleotide variant	NM_024678.6(NARS2):c.595-6T>G	Combined oxidative phosphorylation defect type 24 [RCV000509099]\|NARS2-related disorder [RCV004758030]\|not provided [RCV002524940]	likely benign\|not provided	11	78528942	78528942	Human	2	name , trait , alternate_id
13527714	CV504465	single nucleotide variant	NM_024678.6(NARS2):c.514-3C>T	Inborn genetic diseases [RCV002532787]\|not provided [RCV001860308]\|not specified [RCV000599857]	likely benign\|uncertain significance	11	78559622	78559622	Human	1	name
14693857	CV621007	single nucleotide variant	NM_024678.6(NARS2):c.594+1G>A	Combined oxidative phosphorylation defect type 24 [RCV000779613]	pathogenic	11	78559538	78559538	Human	1	name
15176306	CV744683	single nucleotide variant	NM_024678.6(NARS2):c.822+7A>G	not provided [RCV000906402]	likely benign	11	78493056	78493056	Human		name
15143574	CV788027	single nucleotide variant	NM_024678.6(NARS2):c.252-4A>G	not provided [RCV000983350]	likely benign	11	78568756	78568756	Human		name
150423710	CV1184588	single nucleotide variant	NM_024678.6(NARS2):c.251+29T>C	not provided [RCV001555693]	likely benign	11	78571306	78571306	Human		name
150420975	CV1194575	single nucleotide variant	NM_024678.6(NARS2):c.513+96T>A	not provided [RCV001570350]	likely benign	11	78566036	78566036	Human		name
150474673	CV1202133	single nucleotide variant	NM_024678.6(NARS2):c.690-79G>A	not provided [RCV001589376]	likely benign	11	78493274	78493274	Human		name
150480627	CV1208054	single nucleotide variant	NM_024678.6(NARS2):c.513+21T>C	not provided [RCV001590331]	likely benign	11	78566111	78566111	Human		name
150511667	CV1229519	duplication	NM_024678.6(NARS2):c.690-61dup	not provided [RCV001637448]	benign	11	78493253	78493254	Human		name
150486245	CV1273995	single nucleotide variant	NM_024678.6(NARS2):c.922-37A>G	not provided [RCV001698902]	benign	11	78478512	78478512	Human		name
152044168	CV1552271	single nucleotide variant	NM_024678.6(NARS2):c.922-14G>A	not provided [RCV002166074]	likely benign	11	78478489	78478489	Human		name
152100079	CV1578691	single nucleotide variant	NM_024678.6(NARS2):c.142-11C>A	not provided [RCV002151705]	likely benign	11	78571455	78571455	Human		name
152076756	CV1604583	single nucleotide variant	NM_024678.6(NARS2):c.921+17A>C	not provided [RCV002092325]	likely benign	11	78478568	78478568	Human		name
156395067	CV1958846	single nucleotide variant	NM_024678.6(NARS2):c.689+20C>T	not provided [RCV002584288]	likely benign	11	78528822	78528822	Human		name
156151020	CV1960949	single nucleotide variant	NM_024678.6(NARS2):c.373-17T>C	not provided [RCV002572899]	likely benign	11	78566289	78566289	Human		name
156355843	CV1962395	single nucleotide variant	NM_024678.6(NARS2):c.921+13A>G	not provided [RCV002581383]	likely benign	11	78478572	78478572	Human		name
156304106	CV1999721	single nucleotide variant	NM_024678.6(NARS2):c.1289+8T>C	not provided [RCV002671297]	likely benign	11	78441083	78441083	Human		name
156229019	CV2027870	single nucleotide variant	NM_024678.6(NARS2):c.595-18T>C	not provided [RCV002745235]	likely benign	11	78528954	78528954	Human		name
155944918	CV2032633	single nucleotide variant	NM_024678.6(NARS2):c.1289+9G>A	not provided [RCV002730346]	likely benign	11	78441082	78441082	Human		name
156333957	CV2061527	single nucleotide variant	NM_024678.6(NARS2):c.141+17G>A	not provided [RCV002810834]	likely benign	11	78574331	78574331	Human		name
155953620	CV2086812	single nucleotide variant	NM_024678.6(NARS2):c.252-10G>T	not provided [RCV002862478]	likely benign	11	78568762	78568762	Human		name
155903940	CV2151837	single nucleotide variant	NM_024678.6(NARS2):c.252-20C>G	not provided [RCV003011803]	likely benign	11	78568772	78568772	Human		name
405043607	CV2859678	single nucleotide variant	NM_024678.6(NARS2):c.1027-7A>C	not provided [RCV003579296]	likely benign	11	78466020	78466020	Human		name
405116095	CV2951662	single nucleotide variant	NM_024678.6(NARS2):c.690-10T>G	not provided [RCV003670964]	likely benign	11	78493205	78493205	Human		name
404982465	CV2979322	single nucleotide variant	NM_024678.6(NARS2):c.251+16T>C	not provided [RCV003691442]	likely benign	11	78571319	78571319	Human		name
405152291	CV3060218	single nucleotide variant	NM_024678.6(NARS2):c.1027-4A>T	not provided [RCV003726507]	likely benign	11	78466017	78466017	Human		name
12846319	CV372453	single nucleotide variant	NM_024678.6(NARS2):c.1289+7A>G	NARS2-related disorder [RCV003912661]\|not provided [RCV000894427]\|not specified [RCV000441423]	benign\|likely benign	11	78441084	78441084	Human	1	name , trait , alternate_id
12837424	CV372723	single nucleotide variant	NM_024678.6(NARS2):c.513+15G>A	not provided [RCV002062439]\|not specified [RCV000425134]	benign\|likely benign	11	78566117	78566117	Human		name
12844406	CV372728	single nucleotide variant	NM_024678.6(NARS2):c.142-20G>C	not provided [RCV002059604]\|not specified [RCV000437938]	benign\|likely benign	11	78571464	78571464	Human		name
597843985	CV3736064	single nucleotide variant	NM_024678.6(NARS2):c.372+20T>C	not provided [RCV005065412]	likely benign	11	78568612	78568612	Human		name
12844552	CV374356	single nucleotide variant	NM_024678.6(NARS2):c.1262+6G>A	Inborn genetic diseases [RCV002521591]\|NARS2-related disorder [RCV003942359]\|not provided [RCV001703672]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	78443655	78443655	Human	2	name , trait , alternate_id
597960126	CV3746203	single nucleotide variant	NM_024678.6(NARS2):c.141+13G>A	not provided [RCV005081451]	likely benign	11	78574335	78574335	Human		name
597899792	CV3782933	single nucleotide variant	NM_024678.6(NARS2):c.689+19T>C	not provided [RCV005126953]	likely benign	11	78528823	78528823	Human		name
617152781	CV4018399	single nucleotide variant	NM_004539.4(NARS1):c.1001+2T>A	not specified [RCV005418659]	uncertain significance	18	57607132	57607132	Human		name
13532672	CV503804	single nucleotide variant	NM_024678.6(NARS2):c.822+12A>G	not provided [RCV001704728]	likely benign	11	78493051	78493051	Human		name
14744273	CV666303	single nucleotide variant	NM_024678.6(NARS2):c.513+20C>T	not provided [RCV000842641]	likely benign	11	78566112	78566112	Human		name
15182920	CV775793	single nucleotide variant	NM_024678.6(NARS2):c.921+10T>G	not provided [RCV000930473]	likely benign	11	78478575	78478575	Human		name
150331807	CV1163569	single nucleotide variant	NM_024678.6(NARS2):c.1262+97C>T	not provided [RCV001527954]	benign	11	78443564	78443564	Human		name
150420551	CV1180898	single nucleotide variant	NM_024678.6(NARS2):c.1027-95G>A	not provided [RCV001551600]	likely benign	11	78466108	78466108	Human		name
150427304	CV1187804	single nucleotide variant	NM_024678.6(NARS2):c.513+179A>G	not provided [RCV001560749]	likely benign	11	78565953	78565953	Human		name
150405009	CV1191291	single nucleotide variant	NM_024678.6(NARS2):c.689+101C>G	not provided [RCV001564087]	likely benign	11	78528741	78528741	Human		name
150411659	CV1191292	single nucleotide variant	NM_024678.6(NARS2):c.252-238T>A	not provided [RCV001566666]	likely benign	11	78568990	78568990	Human		name
150406139	CV1194576	single nucleotide variant	NM_024678.6(NARS2):c.251+307C>T	not provided [RCV001571942]	likely benign	11	78571028	78571028	Human		name
150441668	CV1204588	single nucleotide variant	NM_024678.6(NARS2):c.690-225G>A	not provided [RCV001583695]	likely benign	11	78493420	78493420	Human		name
150463420	CV1206729	deletion	NM_024678.6(NARS2):c.1026+94del	not provided [RCV001587130]	likely benign	11	78469153	78469153	Human		name
150479752	CV1207888	single nucleotide variant	NM_024678.6(NARS2):c.141+289C>A	not provided [RCV001590164]	likely benign	11	78574059	78574059	Human		name
150498128	CV1208870	single nucleotide variant	NM_024678.6(NARS2):c.514-287T>C	not provided [RCV001594087]	likely benign	11	78559906	78559906	Human		name
150438447	CV1221162	single nucleotide variant	NM_024678.6(NARS2):c.141+134G>T	not provided [RCV001609856]	benign	11	78574214	78574214	Human		name
150435081	CV1221554	single nucleotide variant	NM_024678.6(NARS2):c.595-237T>A	not provided [RCV001609242]	benign	11	78529173	78529173	Human		name
150430554	CV1243364	single nucleotide variant	NM_024678.6(NARS2):c.690-139G>A	not provided [RCV001662981]	benign	11	78493334	78493334	Human		name
150465132	CV1252831	duplication	NM_024678.6(NARS2):c.594+211dup	not provided [RCV001670155]	benign	11	78559301	78559302	Human		name
150450282	CV1254096	single nucleotide variant	NM_024678.6(NARS2):c.142-143A>G	not provided [RCV001667733]	benign	11	78571587	78571587	Human		name
150506901	CV1258082	single nucleotide variant	NM_024678.6(NARS2):c.1165-88C>T	not provided [RCV001678299]	benign	11	78443846	78443846	Human		name
150437424	CV1262303	single nucleotide variant	NM_024678.6(NARS2):c.251+254C>T	not provided [RCV001678661]	benign	11	78571081	78571081	Human		name
150473426	CV1262901	single nucleotide variant	NM_024678.6(NARS2):c.252-171C>T	not provided [RCV001684717]	benign	11	78568923	78568923	Human		name
150436045	CV1270899	single nucleotide variant	NM_024678.6(NARS2):c.689+262A>T	not provided [RCV001689449]	benign	11	78528580	78528580	Human		name
150497410	CV1271724	single nucleotide variant	NM_024678.6(NARS2):c.960-149T>G	not provided [RCV001689025]	benign	11	78469462	78469462	Human		name
150477237	CV1272017	single nucleotide variant	NM_024678.6(NARS2):c.251+232T>C	not provided [RCV001696302]	benign	11	78571103	78571103	Human		name
150479695	CV1273511	single nucleotide variant	NM_024678.6(NARS2):c.960-148T>A	not provided [RCV001696715]	benign	11	78469461	78469461	Human		name
152149104	CV1545331	single nucleotide variant	NM_024678.6(NARS2):c.1289+16C>G	not provided [RCV002121493]	likely benign	11	78441075	78441075	Human		name
152089907	CV1550504	single nucleotide variant	NM_024678.6(NARS2):c.1290-17C>G	not provided [RCV002131914]	likely benign	11	78436831	78436831	Human		name
152042618	CV1624272	single nucleotide variant	NM_024678.6(NARS2):c.1290-15A>G	not provided [RCV002126283]\|not specified [RCV005406372]	likely benign	11	78436829	78436829	Human		name
152040180	CV1644088	single nucleotide variant	NM_024678.6(NARS2):c.1026+11G>A	not provided [RCV002125974]	likely benign	11	78469236	78469236	Human		name
156415026	CV1964933	single nucleotide variant	NM_024678.6(NARS2):c.1289+14C>T	not provided [RCV002588936]	likely benign	11	78441077	78441077	Human		name
156415808	CV1966264	single nucleotide variant	NM_024678.6(NARS2):c.1026+16T>C	not provided [RCV002589376]	likely benign	11	78469231	78469231	Human		name
156312932	CV2160554	single nucleotide variant	NM_024678.6(NARS2):c.1026+11G>T	not provided [RCV003046136]	likely benign	11	78469236	78469236	Human		name
401929112	CV2813588	single nucleotide variant	NM_024678.6(NARS2):c.1290-36A>G	not provided [RCV003390101]	likely benign	11	78436850	78436850	Human		name
402496576	CV2942859	single nucleotide variant	NM_024678.6(NARS2):c.1289+13C>G	not provided [RCV003661190]	likely benign	11	78441078	78441078	Human		name
405241078	CV3004659	single nucleotide variant	NM_024678.6(NARS2):c.1027-12T>C	not provided [RCV003719222]	likely benign	11	78466025	78466025	Human		name
405156993	CV3037470	single nucleotide variant	NM_024678.6(NARS2):c.1027-19T>C	not provided [RCV003703696]	likely benign	11	78466032	78466032	Human		name
597954054	CV3757136	single nucleotide variant	NM_024678.6(NARS2):c.1164+17A>C	not provided [RCV005079997]	likely benign	11	78465859	78465859	Human		name
597935051	CV3845171	single nucleotide variant	NM_024678.6(NARS2):c.1026+10T>C	not provided [RCV005186484]	likely benign	11	78469237	78469237	Human		name
13525762	CV504459	deletion	NM_024678.6(NARS2):c.1026+10del	not specified [RCV000603423]	likely benign	11	78469237	78469237	Human		name
14744496	CV665276	single nucleotide variant	NM_024678.6(NARS2):c.594+281T>C	not provided [RCV000842797]	benign	11	78559258	78559258	Human		name
14706037	CV665280	single nucleotide variant	NM_024678.6(NARS2):c.142-227C>T	not provided [RCV000826393]	benign	11	78571671	78571671	Human		name
14706087	CV665895	single nucleotide variant	NM_024678.6(NARS2):c.690-165G>A	not provided [RCV000826409]	benign	11	78493360	78493360	Human		name
14731646	CV666091	single nucleotide variant	NM_024678.6(NARS2):c.1290-53A>G	not provided [RCV000836227]	likely benign	11	78436867	78436867	Human		name
14744492	CV666099	single nucleotide variant	NM_024678.6(NARS2):c.141+297A>C	not provided [RCV000842795]	benign	11	78574051	78574051	Human		name
14721719	CV666294	single nucleotide variant	NM_024678.6(NARS2):c.1027-82T>C	not provided [RCV000831792]	benign	11	78466095	78466095	Human		name
14721717	CV666297	single nucleotide variant	NM_024678.6(NARS2):c.690-197C>T	not provided [RCV000831791]	benign	11	78493392	78493392	Human		name
14744497	CV666301	single nucleotide variant	NM_024678.6(NARS2):c.690-320T>C	not provided [RCV000842798]	benign	11	78493515	78493515	Human		name
150339528	CV1167535	single nucleotide variant	NM_024678.6(NARS2):c.1289+249T>C	not provided [RCV001534300]	benign	11	78440842	78440842	Human		name
150416104	CV1198269	single nucleotide variant	NM_024678.6(NARS2):c.1027-253G>C	not provided [RCV001575687]	likely benign	11	78466266	78466266	Human		name
150416230	CV1198270	single nucleotide variant	NM_024678.6(NARS2):c.1026+183C>T	not provided [RCV001575738]	likely benign	11	78469064	78469064	Human		name
150433702	CV1204163	single nucleotide variant	NM_024678.6(NARS2):c.1026+195A>G	not provided [RCV001581912]	likely benign	11	78469052	78469052	Human		name
150462520	CV1206601	single nucleotide variant	NM_024678.6(NARS2):c.1262+157C>T	not provided [RCV001587002]	likely benign	11	78443504	78443504	Human		name
150456444	CV1219488	single nucleotide variant	NM_024678.6(NARS2):c.1165-162A>G	not provided [RCV001612703]	benign	11	78443920	78443920	Human		name
150452190	CV1231672	single nucleotide variant	NM_024678.6(NARS2):c.1026+114T>C	not provided [RCV001647978]	benign	11	78469133	78469133	Human		name
150482973	CV1245033	single nucleotide variant	NM_024678.6(NARS2):c.1290-210A>G	not provided [RCV001653210]	benign	11	78437024	78437024	Human		name
150488549	CV1284043	single nucleotide variant	NM_024678.6(NARS2):c.1164+114T>C	not provided [RCV001716121]	benign	11	78465762	78465762	Human		name
156434212	CV2401869	single nucleotide variant	NM_024678.6(NARS2):c.959+1505T>G	Combined oxidative phosphorylation defect type 24 [RCV003110152]	likely pathogenic	11	78476933	78476933	Human	1	name
329953713	CV2670440	single nucleotide variant	NM_004539.4(NARS1):c.1251+699A>G	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV003234744]	uncertain significance	18	57605158	57605158	Human	1	name
14719301	CV665269	single nucleotide variant	NM_024678.6(NARS2):c.1027-265G>T	not provided [RCV000830713]	benign	11	78466278	78466278	Human		name
14723278	CV665272	single nucleotide variant	NM_024678.6(NARS2):c.1026+260G>A	not provided [RCV000832461]	benign	11	78468987	78468987	Human		name
14744498	CV665891	single nucleotide variant	NM_024678.6(NARS2):c.1165-286T>C	not provided [RCV000842799]	benign	11	78444044	78444044	Human		name
14744500	CV666289	single nucleotide variant	NM_024678.6(NARS2):c.1165-282A>G	not provided [RCV000842800]	benign	11	78444040	78444040	Human		name
401857357	CV2750467	single nucleotide variant	NM_024678.6(NARS2):c.1027-1412A>G	not provided [RCV003334140]	benign	11	78467425	78467425	Human		name
401905504	CV2813589	single nucleotide variant	NM_024678.6(NARS2):c.1027-1444C>G	not provided [RCV003395948]	likely benign	11	78467457	78467457	Human		name
404999614	CV3120190	deletion	NM_024678.6(NARS2):c.922-8_922-7del	not provided [RCV003827980]	likely benign	11	78478482	78478483	Human		name
597716151	CV3733242	deletion	NM_024678.6(NARS2):c.922-9_922-4del	not provided [RCV005052432]	uncertain significance	11	78478479	78478484	Human		name
597833148	CV3734901	microsatellite	NM_024678.6(NARS2):c.594+3_594+6del	not provided [RCV005054634]	uncertain significance	11	78559533	78559536	Human		name
597857143	CV3822218	duplication	NM_024678.6(NARS2):c.141+8_141+9dup	not provided [RCV005174516]	likely benign	11	78574338	78574339	Human		name
150489196	CV1284200	deletion	NM_024678.6(NARS2):c.822+30_822+35del	not provided [RCV001716237]	benign	11	78493028	78493033	Human		name
155794382	CV1682644	deletion	NM_024678.6(NARS2):c.922-21_922-19del	Mitochondrial disease [RCV002463370]	pathogenic	11	78478494	78478496	Human	1	name
153346708	CV1692241	insertion	NM_004539.4(NARS1):c.342+2_342+3insTC	not provided [RCV002272089]	uncertain significance	18	57615638	57615639	Human		name
155901946	CV1999164	deletion	NM_024678.6(NARS2):c.251+19_251+20del	not provided [RCV002681157]	likely benign	11	78571315	78571316	Human		name
405223681	CV2919155	deletion	NM_024678.6(NARS2):c.594+10_594+12del	not provided [RCV003568810]	likely benign	11	78559527	78559529	Human		name
404987397	CV3135549	microsatellite	NM_024678.6(NARS2):c.689+20_689+21del	not provided [RCV003826844]	likely benign	11	78528821	78528822	Human		name
405273530	CV3207625	deletion	NM_024678.6(NARS2):c.1165-8_1165-7del	NARS2-related disorder [RCV003914782]	likely benign	11	78443765	78443766	Human		name , trait , alternate_id
405184763	CV3061887	deletion	NM_024678.6(NARS2):c.1263-18_1263-7del	not provided [RCV003729157]	uncertain significance	11	78441124	78441135	Human		name
150413035	CV1177513	deletion	NM_024678.6(NARS2):c.959+244_959+247del	not provided [RCV001547676]	likely benign	11	78478191	78478194	Human		name
150410702	CV1177514	deletion	NM_024678.6(NARS2):c.252-213_252-209del	not provided [RCV001546784]	likely benign	11	78568961	78568965	Human		name
150422947	CV1180900	duplication	NM_024678.6(NARS2):c.594+211_594+214dup	not provided [RCV001553341]	likely benign	11	78559301	78559302	Human		name
150496175	CV1225260	duplication	NM_024678.6(NARS2):c.594+211_594+213dup	not provided [RCV001619738]	benign	11	78559301	78559302	Human		name
150497902	CV1236437	duplication	NM_024678.6(NARS2):c.594+211_594+212dup	not provided [RCV001656162]	benign	11	78559301	78559302	Human		name
14708980	CV665273	deletion	NM_024678.6(NARS2):c.959+273_959+274del	not provided [RCV000832460]	benign	11	78478164	78478165	Human		name
151662252	CV1332979	deletion	NM_024678.6(NARS2):c.822+6704_959+1727del	Combined oxidative phosphorylation defect type 24 [RCV001837211]	likely pathogenic	11	78476711	78486359	Human	1	name
156434214	CV2401870	deletion	NM_024678.6(NARS2):c.822+6703_959+1726del	Combined oxidative phosphorylation defect type 24 [RCV003110153]	likely pathogenic	11	78476712	78486360	Human	1	name
156226237	CV2081114	insertion	NM_024678.6(NARS2):c.141+8_141+9insAAGATCCAGGTTGGTGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACTGTTCATTTTGTTCTGCACTAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	not provided [RCV002853398]	uncertain significance	11	78574339	78574340	Human		name
150438242	CV1286814	single nucleotide variant	NM_024678.6(NARS2):c.1291T>C (p.Tyr431His)	Combined oxidative phosphorylation defect type 24 [RCV001724760]\|NARS2-related disorder [RCV004758192]\|not provided [RCV002267119]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	11	78436813	78436813	Human	2	name , trait , alternate_id
152984305	CV1675276	deletion	NM_024678.6(NARS2):c.947del (p.Asn316fs)	Combined oxidative phosphorylation defect type 24 [RCV002238663]\|NARS2-related disorder [RCV004758228]\|not provided [RCV003093923]	pathogenic\|likely pathogenic	11	78478450	78478450	Human	2	name , trait , alternate_id
401756491	CV2687176	single nucleotide variant	NM_004539.4(NARS1):c.1189A>G (p.Ile397Val)	NARS1-related disorder [RCV003936736]\|not provided [RCV003410325]\|not specified [RCV004298125]	likely benign	18	57605919	57605919	Human	1	name , trait , alternate_id
401912446	CV2796054	single nucleotide variant	NM_004539.4(NARS1):c.1561G>C (p.Glu521Gln)	NARS1-related disorder [RCV003399750]	uncertain significance	18	57601738	57601738	Human		name , trait , alternate_id
401933958	CV2797813	single nucleotide variant	NM_004539.4(NARS1):c.412C>T (p.Arg138Cys)	NARS1-related disorder [RCV003410713]	uncertain significance	18	57613611	57613611	Human		name , trait , alternate_id
401923969	CV2800979	single nucleotide variant	NM_004539.4(NARS1):c.925C>T (p.Pro309Ser)	NARS1-related disorder [RCV003404570]	uncertain significance	18	57607210	57607210	Human		name , trait , alternate_id
401931837	CV2801577	single nucleotide variant	NM_004539.4(NARS1):c.535G>A (p.Val179Ile)	NARS1-related disorder [RCV003408486]	uncertain significance	18	57609401	57609401	Human		name , trait , alternate_id
401902275	CV2804197	single nucleotide variant	NM_004539.4(NARS1):c.311A>G (p.Lys104Arg)	NARS1-related disorder [RCV003418777]	uncertain significance	18	57615672	57615672	Human		name , trait , alternate_id
405285973	CV3196528	single nucleotide variant	NM_024678.6(NARS2):c.705G>A (p.Val235=)	NARS2-related disorder [RCV003981396]	likely benign	11	78493180	78493180	Human		name , trait , alternate_id
405293970	CV3203296	microsatellite	NM_004539.4(NARS1):c.251_252del (p.Glu84fs)	NARS1-related disorder [RCV003933857]	pathogenic	18	57615817	57615818	Human		name , trait , alternate_id
405287305	CV3205654	single nucleotide variant	NM_024678.6(NARS2):c.447T>C (p.Thr149=)	NARS2-related disorder [RCV003959785]	likely benign	11	78566198	78566198	Human		name , trait , alternate_id
405279614	CV3217612	single nucleotide variant	NM_024678.6(NARS2):c.1350A>G (p.Glu450=)	NARS2-related disorder [RCV003976986]	likely benign	11	78436754	78436754	Human		name , trait , alternate_id
12836650	CV374367	single nucleotide variant	NM_024678.6(NARS2):c.423A>G (p.Gln141=)	NARS2-related disorder [RCV003922790]\|not provided [RCV000968227]\|not specified [RCV000423779]	benign\|likely benign	11	78566222	78566222	Human	1	name , trait , alternate_id
14744285	CV656098	single nucleotide variant	NM_024678.6(NARS2):c.492T>C (p.Ala164=)	NARS2-related disorder [RCV003938197]\|not provided [RCV000842650]	benign\|likely benign	11	78566153	78566153	Human	1	name , trait , alternate_id
15155595	CV713196	single nucleotide variant	NM_024678.6(NARS2):c.1082A>G (p.Asn361Ser)	NARS2-related disorder [RCV003943182]\|not provided [RCV000968952]\|not specified [RCV001731997]	benign\|likely benign	11	78465958	78465958	Human	1	name , trait , alternate_id
15167067	CV738313	single nucleotide variant	NM_024678.6(NARS2):c.1132A>C (p.Met378Leu)	Inborn genetic diseases [RCV004028549]\|NARS2-related disorder [RCV003958199]\|not provided [RCV000904575]	likely benign\|uncertain significance	11	78465908	78465908	Human	2	name , trait , alternate_id
15153045	CV738317	single nucleotide variant	NM_024678.6(NARS2):c.25C>T (p.Arg9Trp)	NARS2-related disorder [RCV003968258]\|not provided [RCV000901687]	likely benign	11	78574464	78574464	Human	1	name , trait , alternate_id
15139627	CV752994	single nucleotide variant	NM_024678.6(NARS2):c.1008C>G (p.Asn336Lys)	NARS2-related disorder [RCV003960400]\|not provided [RCV000921540]	likely benign\|conflicting interpretations of pathogenicity	11	78469265	78469265	Human	1	name , trait , alternate_id
405112534	CV2900495	single nucleotide variant	NM_024678.6(NARS2):c.27G>A (p.Arg9=)	not provided [RCV003558080]	likely benign	11	78574462	78574462	Human		name
597938949	CV3760193	single nucleotide variant	NM_024678.6(NARS2):c.18C>T (p.Cys6=)	not provided [RCV005077117]	likely benign	11	78574471	78574471	Human		name
150406305	CV1194577	single nucleotide variant	NM_024678.6(NARS2):c.72T>G (p.Pro24=)	not provided [RCV001571991]	benign\|likely benign	11	78574417	78574417	Human		name
151721780	CV1419739	single nucleotide variant	NM_024678.6(NARS2):c.3G>A (p.Met1Ile)	not provided [RCV001983194]	uncertain significance	11	78574486	78574486	Human		name
156408123	CV1873254	single nucleotide variant	NM_024678.6(NARS2):c.60C>T (p.Pro20=)	not provided [RCV003071143]	likely benign	11	78574429	78574429	Human		name
156102711	CV1916998	single nucleotide variant	NM_024678.6(NARS2):c.54C>T (p.Pro18=)	not provided [RCV002592336]	likely benign	11	78574435	78574435	Human		name
156108297	CV2046100	single nucleotide variant	NM_024678.6(NARS2):c.7G>C (p.Gly3Arg)	not provided [RCV002785293]	uncertain significance	11	78574482	78574482	Human		name
156373488	CV2127734	single nucleotide variant	NM_024678.6(NARS2):c.93G>C (p.Arg31=)	not provided [RCV002942518]	likely benign	11	78574396	78574396	Human		name
401906738	CV2818391	single nucleotide variant	NM_004539.4(NARS1):c.51G>T (p.Thr17=)	not provided [RCV003421658]	likely benign	18	57620611	57620611	Human		name
407426338	CV3409875	single nucleotide variant	NM_024678.6(NARS2):c.87C>T (p.Ser29=)	not provided [RCV004585807]	likely benign	11	78574402	78574402	Human		name
597879277	CV3744496	single nucleotide variant	NM_024678.6(NARS2):c.48C>T (p.Ser16=)	not provided [RCV005069710]	likely benign	11	78574441	78574441	Human		name
13528772	CV513607	deletion	NM_024678.6(NARS2):c.10del (p.Val4fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000626110]	pathogenic	11	78574479	78574479	Human	1	name
15139438	CV738316	single nucleotide variant	NM_024678.6(NARS2):c.45C>T (p.Ser15=)	not provided [RCV000899147]	likely benign	11	78574444	78574444	Human		name
40886862	CV973817	single nucleotide variant	NM_024678.6(NARS2):c.5T>C (p.Leu2Pro)	Inborn genetic diseases [RCV001266149]	uncertain significance	11	78574484	78574484	Human	1	name
151826158	CV1442904	single nucleotide variant	NM_024678.6(NARS2):c.123G>T (p.Gly41=)	not provided [RCV002013855]	uncertain significance	11	78574366	78574366	Human		name
151805511	CV1457136	single nucleotide variant	NM_024678.6(NARS2):c.10G>A (p.Val4Ile)	not provided [RCV001877764]	uncertain significance	11	78574479	78574479	Human		name
152094016	CV1561702	single nucleotide variant	NM_024678.6(NARS2):c.198T>C (p.Asp66=)	not provided [RCV002194672]	likely benign	11	78571388	78571388	Human		name
153349139	CV1693734	single nucleotide variant	NM_004539.4(NARS1):c.129C>T (p.Thr43=)	not provided [RCV002275531]	likely benign	18	57615940	57615940	Human		name
405093393	CV3045578	single nucleotide variant	NM_024678.6(NARS2):c.165C>G (p.Ser55=)	not provided [RCV003717984]	likely benign	11	78571421	78571421	Human		name
12841857	CV372459	single nucleotide variant	NM_024678.6(NARS2):c.26G>C (p.Arg9Pro)	not provided [RCV000969265]\|not specified [RCV000433331]	benign	11	78574463	78574463	Human		name
12846324	CV372725	single nucleotide variant	NM_024678.6(NARS2):c.174A>G (p.Glu58=)	not provided [RCV000904509]\|not specified [RCV000441433]	benign\|likely benign	11	78571412	78571412	Human		name
597967812	CV3853269	single nucleotide variant	NM_024678.6(NARS2):c.222G>A (p.Gln74=)	not provided [RCV005194911]	likely benign	11	78571364	78571364	Human		name
150555108	CV1295922	single nucleotide variant	NM_024678.6(NARS2):c.53C>T (p.Pro18Leu)	not provided [RCV001772431]	uncertain significance	11	78574436	78574436	Human		name
152095158	CV1561905	single nucleotide variant	NM_024678.6(NARS2):c.486G>C (p.Ala162=)	not provided [RCV002194822]	likely benign	11	78566159	78566159	Human		name
152101524	CV1667091	single nucleotide variant	NM_004539.4(NARS1):c.591C>T (p.Gly197=)	not provided [RCV002214077]	likely benign	18	57607654	57607654	Human		name
155641617	CV1709870	single nucleotide variant	NM_004539.4(NARS1):c.46G>A (p.Ala16Thr)	not provided [RCV002292970]	uncertain significance	18	57620616	57620616	Human		name
156140184	CV1898483	single nucleotide variant	NM_004539.4(NARS1):c.43G>A (p.Asp15Asn)	not provided [RCV003082173]	uncertain significance	18	57620619	57620619	Human		name
156315753	CV1901207	single nucleotide variant	NM_024678.6(NARS2):c.837G>A (p.Leu279=)	not provided [RCV002578941]	likely benign	11	78478669	78478669	Human		name
156344942	CV1958127	single nucleotide variant	NM_024678.6(NARS2):c.903C>T (p.Phe301=)	not provided [RCV002580714]	likely benign	11	78478603	78478603	Human		name
155907766	CV1983326	single nucleotide variant	NM_024678.6(NARS2):c.621G>A (p.Glu207=)	not provided [RCV002613773]	likely benign	11	78528910	78528910	Human		name
156131616	CV1998470	single nucleotide variant	NM_024678.6(NARS2):c.723C>T (p.Thr241=)	not provided [RCV002663241]	likely benign	11	78493162	78493162	Human		name
156057335	CV2008056	single nucleotide variant	NM_024678.6(NARS2):c.466T>C (p.Leu156=)	not provided [RCV002705265]	likely benign	11	78566179	78566179	Human		name
156199662	CV2062885	single nucleotide variant	NM_024678.6(NARS2):c.32T>C (p.Val11Ala)	not provided [RCV002828894]	uncertain significance	11	78574457	78574457	Human		name
155983756	CV2070250	single nucleotide variant	NM_024678.6(NARS2):c.88G>T (p.Val30Leu)	not provided [RCV002842647]	uncertain significance	11	78574401	78574401	Human		name
156251877	CV2082634	single nucleotide variant	NM_024678.6(NARS2):c.649T>C (p.Leu217=)	not provided [RCV002876971]	likely benign	11	78528882	78528882	Human		name
156032682	CV2142163	single nucleotide variant	NM_024678.6(NARS2):c.897C>T (p.His299=)	not provided [RCV002976673]	likely benign	11	78478609	78478609	Human		name
329352670	CV2476719	single nucleotide variant	NM_004539.4(NARS1):c.813A>C (p.Pro271=)	not provided [RCV003222951]	likely benign	18	57607322	57607322	Human		name
401723517	CV2672137	single nucleotide variant	NM_004539.4(NARS1):c.49A>G (p.Thr17Ala)	not provided [RCV003239038]	uncertain significance	18	57620613	57620613	Human		name
401725837	CV2735974	single nucleotide variant	NM_004539.4(NARS1):c.904T>C (p.Leu302=)	not provided [RCV003312419]	likely benign	18	57607231	57607231	Human		name
401828114	CV2744484	single nucleotide variant	NM_024678.6(NARS2):c.49G>A (p.Ala17Thr)	not provided [RCV003327881]	uncertain significance	11	78574440	78574440	Human		name
401906735	CV2818387	single nucleotide variant	NM_004539.4(NARS1):c.789G>A (p.Arg263=)	not provided [RCV003421655]	likely benign	18	57607456	57607456	Human		name
401908095	CV2818388	single nucleotide variant	NM_004539.4(NARS1):c.747A>C (p.Arg249=)	not provided [RCV003423099]	likely benign	18	57607498	57607498	Human		name
405216078	CV2911304	single nucleotide variant	NM_004539.4(NARS1):c.91A>G (p.Lys31Glu)	not provided [RCV003567801]	uncertain significance	18	57620571	57620571	Human		name
404982439	CV2979281	single nucleotide variant	NM_024678.6(NARS2):c.348A>G (p.Lys116=)	not provided [RCV003691439]	likely benign	11	78568656	78568656	Human		name
405118206	CV3116060	single nucleotide variant	NM_024678.6(NARS2):c.69A>C (p.Lys23Asn)	Inborn genetic diseases [RCV004366723]\|not provided [RCV003814550]	likely benign\|uncertain significance	11	78574420	78574420	Human	1	name
405123173	CV3131773	single nucleotide variant	NM_024678.6(NARS2):c.969T>C (p.Tyr323=)	not provided [RCV003837637]	likely benign	11	78469304	78469304	Human		name
405198740	CV3146827	deletion	NM_024678.6(NARS2):c.157del (p.Val53fs)	not provided [RCV003844182]	pathogenic	11	78571429	78571429	Human		name
405173305	CV3150454	single nucleotide variant	NM_024678.6(NARS2):c.442A>C (p.Arg148=)	not provided [RCV003841728]	likely benign	11	78566203	78566203	Human		name
405144737	CV3155810	single nucleotide variant	NM_024678.6(NARS2):c.762A>G (p.Ala254=)	not provided [RCV003855852]	likely benign	11	78493123	78493123	Human		name
402474377	CV3182741	single nucleotide variant	NM_024678.6(NARS2):c.438G>A (p.Arg146=)	not provided [RCV003874984]	likely benign	11	78566207	78566207	Human		name
405872218	CV3398316	single nucleotide variant	NM_024678.6(NARS2):c.636T>C (p.Asn212=)	not provided [RCV004575317]	likely benign	11	78528895	78528895	Human		name
407426989	CV3411784	single nucleotide variant	NM_024678.6(NARS2):c.50C>T (p.Ala17Val)	not provided [RCV004590962]	uncertain significance	11	78574439	78574439	Human		name
407476531	CV3494920	single nucleotide variant	NM_004539.4(NARS1):c.53G>A (p.Gly18Glu)	not specified [RCV004690821]	uncertain significance	18	57620609	57620609	Human		name
408391677	CV3523312	single nucleotide variant	NM_004539.4(NARS1):c.82A>G (p.Thr28Ala)	not provided [RCV004770685]	uncertain significance	18	57620580	57620580	Human		name
408381909	CV3524041	single nucleotide variant	NM_024678.6(NARS2):c.97G>C (p.Ala33Pro)	not provided [RCV004766439]	uncertain significance	11	78574392	78574392	Human		name
597712496	CV3565221	single nucleotide variant	NM_024678.6(NARS2):c.63G>C (p.Lys21Asn)	Inborn genetic diseases [RCV004959317]	uncertain significance	11	78574426	78574426	Human	1	name
12849233	CV363860	single nucleotide variant	NM_024678.6(NARS2):c.47C>T (p.Ser16Phe)	not provided [RCV000426496]	uncertain significance	11	78574442	78574442	Human		name
12837994	CV371732	single nucleotide variant	NM_024678.6(NARS2):c.414T>C (p.Tyr138=)	Combined oxidative phosphorylation defect type 24 [RCV001778960]\|Hearing loss, autosomal recessive 94 [RCV001778961]\|not provided [RCV002062281]\|not specified [RCV000426158]	benign	11	78566231	78566231	Human	2	name
12843870	CV372722	single nucleotide variant	NM_024678.6(NARS2):c.720G>A (p.Pro240=)	not provided [RCV000959207]\|not specified [RCV000436998]	benign	11	78493165	78493165	Human		name
12841613	CV372724	single nucleotide variant	NM_024678.6(NARS2):c.306A>G (p.Pro102=)	not provided [RCV000992452]\|not specified [RCV000432890]	benign	11	78568698	78568698	Human		name
597888632	CV3739286	single nucleotide variant	NM_024678.6(NARS2):c.429T>G (p.Pro143=)	not provided [RCV005070833]	likely benign	11	78566216	78566216	Human		name
597905146	CV3742065	single nucleotide variant	NM_024678.6(NARS2):c.951C>T (p.Asn317=)	not provided [RCV005072849]	likely pathogenic	11	78478446	78478446	Human		name
597882918	CV3784173	single nucleotide variant	NM_024678.6(NARS2):c.864C>T (p.Leu288=)	not provided [RCV005124461]	likely benign	11	78478642	78478642	Human		name
598129338	CV3888634	single nucleotide variant	NM_004539.4(NARS1):c.429T>C (p.Asn143=)	not provided [RCV005244808]	likely benign	18	57611700	57611700	Human		name
12894238	CV408485	deletion	NM_024678.6(NARS2):c.124del (p.Glu42fs)	not provided [RCV000482038]	likely pathogenic	11	78574365	78574365	Human		name
13540296	CV503467	single nucleotide variant	NM_024678.6(NARS2):c.450C>T (p.Asn150=)	not provided [RCV000899514]\|not specified [RCV000614498]	likely benign	11	78566195	78566195	Human		name
13531775	CV503475	single nucleotide variant	NM_024678.6(NARS2):c.369C>T (p.Ala123=)	not provided [RCV000925897]\|not specified [RCV000606586]	benign\|likely benign	11	78568635	78568635	Human		name
13536300	CV504048	single nucleotide variant	NM_024678.6(NARS2):c.990A>G (p.Leu330=)	not provided [RCV002528593]\|not specified [RCV000608803]	likely benign\|uncertain significance	11	78469283	78469283	Human		name
15160350	CV724756	single nucleotide variant	NM_024678.6(NARS2):c.309C>G (p.Ser103=)	not provided [RCV000881366]	likely benign	11	78568695	78568695	Human		name
15167822	CV752995	single nucleotide variant	NM_024678.6(NARS2):c.561C>T (p.Asp187=)	not provided [RCV000927167]	likely benign	11	78559572	78559572	Human		name
15186066	CV768808	single nucleotide variant	NM_024678.6(NARS2):c.333G>A (p.Lys111=)	not provided [RCV000931244]	likely benign	11	78568671	78568671	Human		name
40888092	CV974445	duplication	NM_004539.4(NARS1):c.203dup (p.Met69fs)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV001267635]	pathogenic	18	57615865	57615866	Human	1	name
40888094	CV974448	single nucleotide variant	NM_004539.4(NARS1):c.32G>C (p.Arg11Pro)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV001267638]	pathogenic\|uncertain significance	18	57620630	57620630	Human	1	name
40888095	CV974450	single nucleotide variant	NM_004539.4(NARS1):c.50C>T (p.Thr17Met)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV001267640]	pathogenic\|likely pathogenic	18	57620612	57620612	Human	1	name
127274458	CV1065758	single nucleotide variant	NM_004539.4(NARS1):c.178A>G (p.Lys60Glu)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV001391243]\|not provided [RCV001776233]	uncertain significance	18	57615891	57615891	Human	1	name
150548544	CV1316398	single nucleotide variant	NM_024678.6(NARS2):c.206C>G (p.Ser69Cys)	Combined oxidative phosphorylation defect type 24 [RCV005005284]\|Inborn genetic diseases [RCV002541239]\|not provided [RCV001786200]	uncertain significance	11	78571380	78571380	Human	3	name
151802223	CV1364514	single nucleotide variant	NM_024678.6(NARS2):c.247A>G (p.Ser83Gly)	not provided [RCV001991058]	uncertain significance	11	78571339	78571339	Human		name
151865044	CV1405942	single nucleotide variant	NM_024678.6(NARS2):c.128G>T (p.Arg43Leu)	Inborn genetic diseases [RCV003348647]\|not provided [RCV001959723]	likely benign\|uncertain significance	11	78574361	78574361	Human	1	name
152168182	CV1547904	single nucleotide variant	NM_024678.6(NARS2):c.1080C>A (p.Gly360=)	not provided [RCV002161046]	likely benign	11	78465960	78465960	Human		name
152084373	CV1577030	single nucleotide variant	NM_024678.6(NARS2):c.1287A>G (p.Gln429=)	not provided [RCV002193435]	likely benign	11	78441093	78441093	Human		name
152980174	CV1675871	single nucleotide variant	NM_024678.6(NARS2):c.241C>G (p.Leu81Val)	not provided [RCV002244462]	uncertain significance	11	78571345	78571345	Human		name
153348591	CV1692629	single nucleotide variant	NM_004539.4(NARS1):c.179A>C (p.Lys60Thr)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV002274484]	likely pathogenic	18	57615890	57615890	Human	1	name
156401112	CV1907932	single nucleotide variant	NM_024678.6(NARS2):c.121G>A (p.Gly41Arg)	not provided [RCV002584885]	uncertain significance	11	78574368	78574368	Human		name
155913253	CV1935423	single nucleotide variant	NM_024678.6(NARS2):c.100C>G (p.Leu34Val)	Combined oxidative phosphorylation defect type 24 [RCV002510758]	uncertain significance	11	78574389	78574389	Human	1	name
156437088	CV1936993	single nucleotide variant	NM_024678.6(NARS2):c.1293T>C (p.Tyr431=)	not provided [RCV003106618]	likely benign	11	78436811	78436811	Human		name
156442509	CV1938738	single nucleotide variant	NM_024678.6(NARS2):c.1059G>A (p.Lys353=)	not provided [RCV003112854]	likely benign	11	78465981	78465981	Human		name
156149624	CV1964214	single nucleotide variant	NM_024678.6(NARS2):c.1209T>C (p.Phe403=)	not provided [RCV002572855]	likely benign	11	78443714	78443714	Human		name
156381148	CV1978715	single nucleotide variant	NM_024678.6(NARS2):c.1119C>T (p.Leu373=)	not provided [RCV002603974]	likely benign	11	78465921	78465921	Human		name
156165283	CV2019679	single nucleotide variant	NM_024678.6(NARS2):c.127C>T (p.Arg43Cys)	Inborn genetic diseases [RCV004067650]\|not provided [RCV002710319]	uncertain significance	11	78574362	78574362	Human	1	name
156032479	CV2037025	single nucleotide variant	NM_024678.6(NARS2):c.160C>T (p.Arg54Ter)	not provided [RCV002781167]	pathogenic\|likely pathogenic	11	78571426	78571426	Human		name
156010204	CV2051372	single nucleotide variant	NM_024678.6(NARS2):c.1212A>C (p.Gly404=)	not provided [RCV002820082]	likely benign	11	78443711	78443711	Human		name
156142403	CV2123774	single nucleotide variant	NM_024678.6(NARS2):c.1131C>T (p.Tyr377=)	not provided [RCV002982360]	likely benign	11	78465909	78465909	Human		name
156230395	CV2156744	single nucleotide variant	NM_024678.6(NARS2):c.239G>C (p.Gly80Ala)	not provided [RCV003025620]	uncertain significance	11	78571347	78571347	Human		name
156244431	CV2231601	single nucleotide variant	NM_024678.6(NARS2):c.287G>C (p.Gly96Ala)	Inborn genetic diseases [RCV002713587]	uncertain significance	11	78568717	78568717	Human	1	name
155960368	CV2314017	single nucleotide variant	NM_024678.6(NARS2):c.227T>C (p.Val76Ala)	Inborn genetic diseases [RCV002905976]	uncertain significance	11	78571359	78571359	Human	1	name
156434444	CV2402901	single nucleotide variant	NM_024678.6(NARS2):c.275T>C (p.Val92Ala)	not provided [RCV003126339]	uncertain significance	11	78568729	78568729	Human		name
329398188	CV2464847	single nucleotide variant	NM_024678.6(NARS2):c.274G>A (p.Val92Met)	Inborn genetic diseases [RCV003220358]	uncertain significance	11	78568730	78568730	Human	1	name
329847784	CV2524534	single nucleotide variant	NM_024678.6(NARS2):c.224T>C (p.Val75Ala)	not provided [RCV003227426]	uncertain significance	11	78571362	78571362	Human		name
401758636	CV2700657	single nucleotide variant	NM_004539.4(NARS1):c.242A>C (p.Glu81Ala)	not specified [RCV004313375]	uncertain significance	18	57615827	57615827	Human		name
401857989	CV2774136	single nucleotide variant	NM_004539.4(NARS1):c.244A>G (p.Lys82Glu)	not specified [RCV004345728]	uncertain significance	18	57615825	57615825	Human		name
401908088	CV2818380	single nucleotide variant	NM_004539.4(NARS1):c.1575G>A (p.Thr525=)	not provided [RCV003423096]	likely benign	18	57601724	57601724	Human		name
401908090	CV2818381	single nucleotide variant	NM_004539.4(NARS1):c.1524C>T (p.Tyr508=)	not provided [RCV003423097]	likely benign	18	57601775	57601775	Human		name
401908093	CV2818383	single nucleotide variant	NM_004539.4(NARS1):c.1152C>A (p.Pro384=)	not provided [RCV003423098]	likely benign	18	57605956	57605956	Human		name
401936015	CV2818385	single nucleotide variant	NM_004539.4(NARS1):c.1044C>T (p.Asp348=)	not provided [RCV003413457]	likely benign	18	57606709	57606709	Human		name
401936016	CV2818386	single nucleotide variant	NM_004539.4(NARS1):c.1038T>G (p.Thr346=)	not provided [RCV003413458]	likely benign	18	57606715	57606715	Human		name
401906736	CV2818389	deletion	NM_004539.4(NARS1):c.569del (p.Lys190fs)	not provided [RCV003421656]	uncertain significance	18	57609367	57609367	Human		name
405165267	CV2905866	single nucleotide variant	NM_024678.6(NARS2):c.1050A>G (p.Glu350=)	not provided [RCV003562688]	likely benign	11	78465990	78465990	Human		name
405083067	CV3017105	single nucleotide variant	NM_004539.4(NARS1):c.206T>C (p.Met69Thr)	not provided [RCV003699188]	uncertain significance	18	57615863	57615863	Human		name
402508418	CV3036242	single nucleotide variant	NM_024678.6(NARS2):c.103G>C (p.Gly35Arg)	not provided [RCV003715437]	uncertain significance	11	78574386	78574386	Human		name
405145251	CV3052286	single nucleotide variant	NM_024678.6(NARS2):c.100C>A (p.Leu34Ile)	not provided [RCV003726000]	uncertain significance	11	78574389	78574389	Human		name
405269531	CV3187314	single nucleotide variant	NM_004539.4(NARS1):c.1509G>A (p.Thr503=)	not provided [RCV003887398]	likely benign	18	57602361	57602361	Human		name
405282020	CV3224631	single nucleotide variant	NM_004539.4(NARS1):c.245A>C (p.Lys82Thr)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV003988966]	uncertain significance	18	57615824	57615824	Human	1	name
405765686	CV3328347	single nucleotide variant	NM_004539.4(NARS1):c.101T>A (p.Met34Lys)	not specified [RCV004469401]	uncertain significance	18	57615968	57615968	Human		name
405766043	CV3328409	single nucleotide variant	NM_004539.4(NARS1):c.238C>T (p.Arg80Trp)	not specified [RCV004469463]	uncertain significance	18	57615831	57615831	Human		name
405766443	CV3328477	single nucleotide variant	NM_024678.6(NARS2):c.115G>T (p.Ala39Ser)	Inborn genetic diseases [RCV004469531]	uncertain significance	11	78574374	78574374	Human	1	name
405766673	CV3328516	single nucleotide variant	NM_024678.6(NARS2):c.216C>A (p.Ser72Arg)	Inborn genetic diseases [RCV004469570]	uncertain significance	11	78571370	78571370	Human	1	name
407425278	CV3409426	single nucleotide variant	NM_004539.4(NARS1):c.100A>T (p.Met34Leu)	not provided [RCV004585357]\|not specified [RCV004828016]	uncertain significance	18	57615969	57615969	Human		name
407520776	CV3447957	single nucleotide variant	NM_024678.6(NARS2):c.152G>A (p.Arg51His)	Inborn genetic diseases [RCV004652300]	uncertain significance	11	78571434	78571434	Human	1	name
408382077	CV3523997	single nucleotide variant	NM_024678.6(NARS2):c.188A>G (p.His63Arg)	not provided [RCV004766395]	uncertain significance	11	78571398	78571398	Human		name
596943830	CV3544402	single nucleotide variant	NM_004539.4(NARS1):c.236C>G (p.Ser79Cys)	not specified [RCV004800882]	uncertain significance	18	57615833	57615833	Human		name
597655889	CV3565216	single nucleotide variant	NM_004539.4(NARS1):c.269G>A (p.Arg90Gln)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV005255802]\|not specified [RCV004834120]	uncertain significance	18	57615714	57615714	Human	1	name
12847864	CV372457	single nucleotide variant	NM_024678.6(NARS2):c.260A>C (p.Asn87Thr)	Combined oxidative phosphorylation defect type 24 [RCV000988620]\|Hearing loss, autosomal recessive 94 [RCV001778959]\|not provided [RCV002062280]\|not specified [RCV000444244]	benign	11	78568744	78568744	Human	2	name
12844367	CV374357	single nucleotide variant	NM_024678.6(NARS2):c.1095C>T (p.Phe365=)	not provided [RCV000899230]	benign\|likely benign	11	78465945	78465945	Human		name
597940810	CV3789074	duplication	NM_024678.6(NARS2):c.343dup (p.Ile115fs)	not provided [RCV005133537]	pathogenic	11	78568660	78568661	Human		name
597961897	CV3809020	single nucleotide variant	NM_024678.6(NARS2):c.1215A>G (p.Gly405=)	not provided [RCV005163922]	likely benign	11	78443708	78443708	Human		name
597876892	CV3813289	single nucleotide variant	NM_024678.6(NARS2):c.172G>T (p.Glu58Ter)	not provided [RCV005149225]	pathogenic	11	78571414	78571414	Human		name
598129695	CV3887115	single nucleotide variant	NM_004539.4(NARS1):c.1612T>C (p.Leu538=)	not provided [RCV005245175]	likely benign	18	57601687	57601687	Human		name
598215306	CV3987274	single nucleotide variant	NM_004539.4(NARS1):c.239G>A (p.Arg80Gln)	not specified [RCV005378727]	uncertain significance	18	57615830	57615830	Human		name
598215313	CV3987275	single nucleotide variant	NM_004539.4(NARS1):c.213T>A (p.His71Gln)	not specified [RCV005378728]	likely benign	18	57615856	57615856	Human		name
616939954	CV4014323	single nucleotide variant	NM_004539.4(NARS1):c.281A>G (p.Asn94Ser)	not provided [RCV005413817]	uncertain significance	18	57615702	57615702	Human		name
12894026	CV408484	single nucleotide variant	NM_024678.6(NARS2):c.167A>G (p.Gln56Arg)	Combined oxidative phosphorylation defect type 24 [RCV000779615]\|Inborn genetic diseases [RCV004023180]\|not provided [RCV000481204]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	11	78571419	78571419	Human	2	name
13609020	CV535321	single nucleotide variant	NM_024678.6(NARS2):c.151C>T (p.Arg51Cys)	Combined oxidative phosphorylation defect type 24 [RCV000779619]\|not provided [RCV000656263]	pathogenic\|likely pathogenic\|uncertain significance	11	78571435	78571435	Human	1	name
15113763	CV716012	single nucleotide variant	NM_004539.4(NARS1):c.1389C>T (p.Asp463=)	not provided [RCV000961549]	benign	18	57602481	57602481	Human		name
15131405	CV738314	single nucleotide variant	NM_024678.6(NARS2):c.1098T>A (p.Val366=)	not provided [RCV000897770]	likely benign	11	78465942	78465942	Human		name
15184069	CV738315	single nucleotide variant	NM_024678.6(NARS2):c.1014C>T (p.Thr338=)	not provided [RCV000908196]	likely benign	11	78469259	78469259	Human		name
21066970	CV793401	single nucleotide variant	NM_024678.6(NARS2):c.122G>A (p.Gly41Glu)	not provided [RCV000992451]	uncertain significance	11	78574367	78574367	Human		name
126725326	CV1017531	single nucleotide variant	NM_024678.6(NARS2):c.847A>G (p.Thr283Ala)	Combined oxidative phosphorylation defect type 24 [RCV001331335]\|Inborn genetic diseases [RCV002546461]\|not provided [RCV002546462]	likely benign\|uncertain significance	11	78478659	78478659	Human	2	name
126740913	CV1020948	single nucleotide variant	NM_024678.6(NARS2):c.640C>A (p.Pro214Thr)	Combined oxidative phosphorylation defect type 24 [RCV001336123]\|not provided [RCV001797173]	uncertain significance	11	78528891	78528891	Human	1	name
126740909	CV1020949	single nucleotide variant	NM_024678.6(NARS2):c.436A>G (p.Arg146Gly)	Combined oxidative phosphorylation defect type 24 [RCV001336122]\|not provided [RCV002546762]	uncertain significance	11	78566209	78566209	Human	1	name
127274460	CV1065756	single nucleotide variant	NM_004539.4(NARS1):c.965G>T (p.Arg322Leu)	Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities [RCV001391245]	likely pathogenic	18	57607170	57607170	Human	1	name
127274459	CV1065757	single nucleotide variant	NM_004539.4(NARS1):c.394G>T (p.Gly132Cys)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV001391244]	uncertain significance	18	57613629	57613629	Human	1	name
150418550	CV1180899	single nucleotide variant	NM_024678.6(NARS2):c.788T>C (p.Ile263Thr)	not provided [RCV001550649]	likely pathogenic	11	78493097	78493097	Human		name
150532216	CV1308452	single nucleotide variant	NM_004539.4(NARS1):c.426G>T (p.Lys142Asn)	not provided [RCV001757496]	uncertain significance	18	57611703	57611703	Human		name
150544108	CV1310197	single nucleotide variant	NM_004539.4(NARS1):c.547G>A (p.Gly183Arg)	Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities [RCV001771825]	uncertain significance	18	57609389	57609389	Human	1	name
151234749	CV1320470	single nucleotide variant	NM_024678.6(NARS2):c.451G>A (p.Val151Ile)	Inborn genetic diseases [RCV003355549]\|not provided [RCV001800094]	uncertain significance	11	78566194	78566194	Human	1	name
151662357	CV1333056	single nucleotide variant	NM_004539.4(NARS1):c.644G>T (p.Gly215Val)	Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities [RCV001837289]	uncertain significance	18	57607601	57607601	Human	1	name
151864392	CV1374627	single nucleotide variant	NM_024678.6(NARS2):c.419G>C (p.Arg140Pro)	not provided [RCV001884355]	uncertain significance	11	78566226	78566226	Human		name
151741315	CV1386638	single nucleotide variant	NM_024678.6(NARS2):c.419G>A (p.Arg140Gln)	not provided [RCV001893296]	uncertain significance	11	78566226	78566226	Human		name
151769811	CV1460304	single nucleotide variant	NM_024678.6(NARS2):c.840C>G (p.Phe280Leu)	not provided [RCV001863967]\|not specified [RCV005409038]	uncertain significance	11	78478666	78478666	Human		name
151892277	CV1480772	single nucleotide variant	NM_024678.6(NARS2):c.904A>G (p.Ile302Val)	not provided [RCV001943944]	uncertain significance	11	78478602	78478602	Human		name
151730617	CV1517895	single nucleotide variant	NM_004539.4(NARS1):c.676G>C (p.Val226Leu)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV002052436]	likely pathogenic	18	57607569	57607569	Human	1	name
151730624	CV1517896	single nucleotide variant	NM_004539.4(NARS1):c.986G>A (p.Arg329Gln)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV002052437]	likely pathogenic	18	57607149	57607149	Human	1	name
152978388	CV1671573	single nucleotide variant	NM_004539.4(NARS1):c.646G>T (p.Ala216Ser)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV002227678]	uncertain significance	18	57607599	57607599	Human	1	name
152982755	CV1674650	single nucleotide variant	NM_004539.4(NARS1):c.655C>G (p.Leu219Val)	not provided [RCV002237677]	uncertain significance	18	57607590	57607590	Human		name
153348590	CV1692628	single nucleotide variant	NM_004539.4(NARS1):c.713G>A (p.Arg238Gln)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV002274483]	likely pathogenic	18	57607532	57607532	Human	1	name
153348860	CV1692905	single nucleotide variant	NM_024678.6(NARS2):c.728G>A (p.Arg243Gln)	Inborn genetic diseases [RCV003096183]\|not provided [RCV002274761]	uncertain significance	11	78493157	78493157	Human	1	name
155266970	CV1696436	single nucleotide variant	NM_004539.4(NARS1):c.935G>C (p.Gly312Ala)	not provided [RCV002281294]	uncertain significance	18	57607200	57607200	Human		name
155267521	CV1696687	single nucleotide variant	NM_024678.6(NARS2):c.892T>A (p.Cys298Ser)	Combined oxidative phosphorylation defect type 24 [RCV002281540]	uncertain significance	11	78478614	78478614	Human	1	name
155264869	CV1704418	single nucleotide variant	NM_024678.6(NARS2):c.361T>G (p.Cys121Gly)	not provided [RCV002284634]	uncertain significance	11	78568643	78568643	Human		name
155644957	CV1710483	duplication	NM_004539.4(NARS1):c.1375dup (p.Thr459fs)	not provided [RCV002293779]	uncertain significance	18	57602819	57602820	Human		name
155746612	CV1771655	single nucleotide variant	NM_024678.6(NARS2):c.722C>T (p.Thr241Ile)	not provided [RCV002303435]	uncertain significance	11	78493163	78493163	Human		name
9832246	CV181286	single nucleotide variant	NM_024678.6(NARS2):c.822G>C (p.Gln274His)	Combined oxidative phosphorylation defect type 24 [RCV000162034]	pathogenic\|not provided	11	78493063	78493063	Human	1	name
9832247	CV181287	single nucleotide variant	NM_024678.6(NARS2):c.641C>T (p.Pro214Leu)	Combined oxidative phosphorylation defect type 24 [RCV000162035]	pathogenic\|not provided	11	78528890	78528890	Human	1	name
155797353	CV1859293	single nucleotide variant	NM_024678.6(NARS2):c.557A>G (p.Asn186Ser)	not provided [RCV002464921]	uncertain significance	11	78559576	78559576	Human		name
155801808	CV1864119	single nucleotide variant	NM_024678.6(NARS2):c.496A>G (p.Ile166Val)	not provided [RCV002475071]	uncertain significance	11	78566149	78566149	Human		name
156046978	CV1867533	single nucleotide variant	NM_004539.4(NARS1):c.722A>G (p.Asn241Ser)	not provided [RCV002510005]	uncertain significance	18	57607523	57607523	Human		name
156022704	CV1911726	single nucleotide variant	NM_024678.6(NARS2):c.544A>G (p.Ile182Val)	Inborn genetic diseases [RCV002636784]\|not provided [RCV002607315]	likely benign\|uncertain significance	11	78559589	78559589	Human	1	name
155954149	CV1936237	single nucleotide variant	NM_004539.4(NARS1):c.967G>A (p.Ala323Thr)	not provided [RCV002511898]	uncertain significance	18	57607168	57607168	Human		name
156107965	CV1953936	single nucleotide variant	NM_024678.6(NARS2):c.476G>A (p.Arg159His)	not provided [RCV002571090]	uncertain significance	11	78566169	78566169	Human		name
156316596	CV1974961	single nucleotide variant	NM_024678.6(NARS2):c.431A>G (p.His144Arg)	not provided [RCV002630098]	uncertain significance	11	78566214	78566214	Human		name
156106410	CV1992289	single nucleotide variant	NM_024678.6(NARS2):c.547A>G (p.Ile183Val)	not provided [RCV002622403]	uncertain significance	11	78559586	78559586	Human		name
156243355	CV1996458	single nucleotide variant	NM_024678.6(NARS2):c.320A>C (p.Asn107Thr)	not provided [RCV002668001]	uncertain significance	11	78568684	78568684	Human		name
156101706	CV2001114	single nucleotide variant	NM_024678.6(NARS2):c.613G>A (p.Val205Ile)	Inborn genetic diseases [RCV003269230]\|not provided [RCV002639607]	uncertain significance	11	78528918	78528918	Human	1	name
156101359	CV2009794	single nucleotide variant	NM_024678.6(NARS2):c.353T>C (p.Ile118Thr)	Inborn genetic diseases [RCV004067678]\|not provided [RCV002706681]	uncertain significance	11	78568651	78568651	Human	1	name
155994313	CV2023483	single nucleotide variant	NM_024678.6(NARS2):c.451G>T (p.Val151Phe)	not provided [RCV002755890]	uncertain significance	11	78566194	78566194	Human		name
156126515	CV2036347	single nucleotide variant	NM_024678.6(NARS2):c.428C>G (p.Pro143Arg)	not provided [RCV002785999]	uncertain significance	11	78566217	78566217	Human		name
156233310	CV2118288	single nucleotide variant	NM_024678.6(NARS2):c.791C>G (p.Ser264Cys)	not provided [RCV002958593]	likely benign	11	78493094	78493094	Human		name
155901496	CV2126963	single nucleotide variant	NM_024678.6(NARS2):c.517A>G (p.Ser173Gly)	not provided [RCV002967449]	uncertain significance	11	78559616	78559616	Human		name
156096390	CV2139715	single nucleotide variant	NM_024678.6(NARS2):c.635A>G (p.Asn212Ser)	not provided [RCV002979808]	uncertain significance	11	78528896	78528896	Human		name
155912378	CV2153382	single nucleotide variant	NM_024678.6(NARS2):c.437G>C (p.Arg146Thr)	not provided [RCV003012350]	uncertain significance	11	78566208	78566208	Human		name
156146344	CV2188304	single nucleotide variant	NM_024678.6(NARS2):c.665A>G (p.Gln222Arg)	not provided [RCV003056372]	uncertain significance	11	78528866	78528866	Human		name
156298533	CV2191183	single nucleotide variant	NM_024678.6(NARS2):c.826A>T (p.Ile276Leu)	not provided [RCV003061849]	uncertain significance	11	78478680	78478680	Human		name
156293204	CV2306302	single nucleotide variant	NM_024678.6(NARS2):c.982G>A (p.Glu328Lys)	Inborn genetic diseases [RCV002897326]	uncertain significance	11	78469291	78469291	Human	1	name
156353083	CV2324098	single nucleotide variant	NM_024678.6(NARS2):c.607C>T (p.Leu203Phe)	Inborn genetic diseases [RCV002940179]	uncertain significance	11	78528924	78528924	Human	1	name
156339657	CV2367652	single nucleotide variant	NM_024678.6(NARS2):c.343A>G (p.Ile115Val)	Inborn genetic diseases [RCV002674287]	uncertain significance	11	78568661	78568661	Human	1	name
156346255	CV2377978	single nucleotide variant	NM_024678.6(NARS2):c.975A>T (p.Glu325Asp)	Inborn genetic diseases [RCV002719748]	uncertain significance	11	78469298	78469298	Human	1	name
156448811	CV2402230	single nucleotide variant	NM_024678.6(NARS2):c.529C>G (p.His177Asp)	not provided [RCV003120389]	uncertain significance	11	78559604	78559604	Human		name
243052026	CV2405307	single nucleotide variant	NM_004539.4(NARS1):c.889A>C (p.Thr297Pro)	Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities [RCV003130944]	uncertain significance	18	57607246	57607246	Human	1	name
329376274	CV2465443	single nucleotide variant	NM_004539.4(NARS1):c.864C>G (p.Asp288Glu)	not specified [RCV004281213]	uncertain significance	18	57607271	57607271	Human		name
329394490	CV2469899	single nucleotide variant	NM_004539.4(NARS1):c.949A>G (p.Ile317Val)	not specified [RCV004285368]	uncertain significance	18	57607186	57607186	Human		name
329352673	CV2476720	single nucleotide variant	NM_004539.4(NARS1):c.616G>A (p.Glu206Lys)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV003336833]\|not provided [RCV003222952]	likely pathogenic\|uncertain significance	18	57607629	57607629	Human	1	name
329848187	CV2667806	single nucleotide variant	NM_004539.4(NARS1):c.528G>C (p.Glu176Asp)	not provided [RCV003229373]	uncertain significance	18	57609408	57609408	Human		name
401760469	CV2695053	single nucleotide variant	NM_004539.4(NARS1):c.815C>T (p.Thr272Ile)	not specified [RCV004303213]	uncertain significance	18	57607320	57607320	Human		name
401760836	CV2695178	single nucleotide variant	NM_004539.4(NARS1):c.679G>C (p.Asp227His)	not specified [RCV004303324]	uncertain significance	18	57607566	57607566	Human		name
401749274	CV2710259	single nucleotide variant	NM_024678.6(NARS2):c.719C>T (p.Pro240Leu)	Inborn genetic diseases [RCV003242699]	uncertain significance	11	78493166	78493166	Human	1	name
401760012	CV2718681	single nucleotide variant	NM_024678.6(NARS2):c.911C>G (p.Pro304Arg)	Inborn genetic diseases [RCV003299391]	uncertain significance	11	78478595	78478595	Human	1	name
11643985	CV273104	single nucleotide variant	NM_024678.6(NARS2):c.844G>A (p.Ala282Thr)	Hearing loss, autosomal recessive 94 [RCV001331334]\|not provided [RCV000404191]	uncertain significance	11	78478662	78478662	Human	1	name
401857364	CV2750468	single nucleotide variant	NM_024678.6(NARS2):c.392A>G (p.Lys131Arg)	not provided [RCV003334141]	uncertain significance	11	78566253	78566253	Human		name
401897534	CV2787024	single nucleotide variant	NM_004539.4(NARS1):c.888G>T (p.Leu296Phe)	not specified [RCV004366146]	uncertain significance	18	57607247	57607247	Human		name
401898236	CV2790983	single nucleotide variant	NM_024678.6(NARS2):c.409G>C (p.Glu137Gln)	Inborn genetic diseases [RCV003376388]	uncertain significance	11	78566236	78566236	Human	1	name
401906732	CV2818382	deletion	NM_004539.4(NARS1):c.1491del (p.Tyr499fs)	not provided [RCV003421653]	uncertain significance	18	57602379	57602379	Human		name
401906737	CV2818390	single nucleotide variant	NM_004539.4(NARS1):c.482C>A (p.Ala161Glu)	not provided [RCV003421657]	likely benign	18	57611647	57611647	Human		name
401918312	CV2831283	single nucleotide variant	NM_024678.6(NARS2):c.707T>C (p.Phe236Ser)	Combined oxidative phosphorylation defect type 24 [RCV003444048]	uncertain significance	11	78493178	78493178	Human	1	name
405085348	CV2865737	single nucleotide variant	NM_024678.6(NARS2):c.948C>A (p.Asn316Lys)	not provided [RCV003549430]	uncertain significance	11	78478449	78478449	Human		name
405691064	CV3227422	single nucleotide variant	NM_004539.4(NARS1):c.521C>T (p.Ser174Phe)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV003991766]	uncertain significance	18	57609415	57609415	Human	1	name
405766928	CV3324725	single nucleotide variant	NM_024678.6(NARS2):c.541C>G (p.Pro181Ala)	Inborn genetic diseases [RCV004469615]	uncertain significance	11	78559592	78559592	Human	1	name
405766094	CV3328418	single nucleotide variant	NM_004539.4(NARS1):c.449G>C (p.Arg150Pro)	not specified [RCV004469472]	uncertain significance	18	57611680	57611680	Human		name
405766107	CV3328420	single nucleotide variant	NM_004539.4(NARS1):c.455G>C (p.Gly152Ala)	not specified [RCV004469474]	uncertain significance	18	57611674	57611674	Human		name
405766139	CV3328426	single nucleotide variant	NM_004539.4(NARS1):c.538G>A (p.Ala180Thr)	not specified [RCV004469480]	uncertain significance	18	57609398	57609398	Human		name
405766158	CV3328429	single nucleotide variant	NM_004539.4(NARS1):c.644G>C (p.Gly215Ala)	not specified [RCV004469483]	uncertain significance	18	57607601	57607601	Human		name
405766165	CV3328430	single nucleotide variant	NM_004539.4(NARS1):c.662A>G (p.Asn221Ser)	not specified [RCV004469484]	uncertain significance	18	57607583	57607583	Human		name
405766193	CV3328434	single nucleotide variant	NM_004539.4(NARS1):c.692A>G (p.Asn231Ser)	not specified [RCV004469488]	uncertain significance	18	57607553	57607553	Human		name
405766220	CV3328438	single nucleotide variant	NM_004539.4(NARS1):c.751A>G (p.Met251Val)	not specified [RCV004469492]	likely benign	18	57607494	57607494	Human		name
405766240	CV3328441	single nucleotide variant	NM_004539.4(NARS1):c.863A>C (p.Asp288Ala)	not specified [RCV004469495]	uncertain significance	18	57607272	57607272	Human		name
405766334	CV3328458	single nucleotide variant	NM_004539.4(NARS1):c.941T>C (p.Val314Ala)	not provided [RCV005426319]\|not specified [RCV004469512]	uncertain significance	18	57607194	57607194	Human		name
405766368	CV3328464	single nucleotide variant	NM_004539.4(NARS1):c.947G>A (p.Cys316Tyr)	not specified [RCV004469518]	uncertain significance	18	57607188	57607188	Human		name
405766398	CV3328469	single nucleotide variant	NM_004539.4(NARS1):c.957G>T (p.Gln319His)	not specified [RCV004469523]	uncertain significance	18	57607178	57607178	Human		name
405866768	CV3401179	single nucleotide variant	NM_004539.4(NARS1):c.661A>C (p.Asn221His)	Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities [RCV004577296]	uncertain significance	18	57607584	57607584	Human	1	name
407520770	CV3447955	single nucleotide variant	NM_004539.4(NARS1):c.524C>T (p.Thr175Met)	not specified [RCV004652298]	uncertain significance	18	57609412	57609412	Human		name
407520773	CV3447956	single nucleotide variant	NM_004539.4(NARS1):c.594T>G (p.His198Gln)	not specified [RCV004652299]	uncertain significance	18	57607651	57607651	Human		name
408377610	CV3501611	single nucleotide variant	NM_024678.6(NARS2):c.643G>C (p.Ala215Pro)	not provided [RCV004727670]	uncertain significance	11	78528888	78528888	Human		name
408393759	CV3519908	single nucleotide variant	NM_004539.4(NARS1):c.626G>T (p.Gly209Val)	not provided [RCV004764204]	uncertain significance	18	57607619	57607619	Human		name
408385321	CV3520113	single nucleotide variant	NM_004539.4(NARS1):c.964C>T (p.Arg322Trp)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV005255795]\|not provided [RCV004759934]	uncertain significance	18	57607171	57607171	Human	1	name
408390540	CV3527604	single nucleotide variant	NM_004539.4(NARS1):c.524C>G (p.Thr175Arg)	not provided [RCV004774871]	uncertain significance	18	57609412	57609412	Human		name
408390722	CV3527699	single nucleotide variant	NM_024678.6(NARS2):c.655G>A (p.Val219Ile)	not provided [RCV004774967]	uncertain significance	11	78528876	78528876	Human		name
408392347	CV3528103	single nucleotide variant	NM_004539.4(NARS1):c.955C>T (p.Gln319Ter)	not provided [RCV004775871]	uncertain significance	18	57607180	57607180	Human		name
596932594	CV3539215	single nucleotide variant	NM_024678.6(NARS2):c.670C>T (p.His224Tyr)	not provided [RCV004793837]	uncertain significance	11	78528861	78528861	Human		name
597656120	CV3552233	single nucleotide variant	NM_004539.4(NARS1):c.534T>G (p.Ser178Arg)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV004821091]	uncertain significance	18	57609402	57609402	Human	1	name
597656584	CV3552398	single nucleotide variant	NM_004539.4(NARS1):c.986G>C (p.Arg329Pro)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV004821256]	uncertain significance	18	57607149	57607149	Human	1	name
597655918	CV3565213	single nucleotide variant	NM_004539.4(NARS1):c.506A>G (p.Asn169Ser)	not specified [RCV004834117]	uncertain significance	18	57609430	57609430	Human		name
597655870	CV3565218	single nucleotide variant	NM_004539.4(NARS1):c.951T>G (p.Ile317Met)	not specified [RCV004834122]	uncertain significance	18	57607184	57607184	Human		name
597655858	CV3565219	single nucleotide variant	NM_004539.4(NARS1):c.446T>C (p.Leu149Ser)	not specified [RCV004834123]	uncertain significance	18	57611683	57611683	Human		name
12849688	CV363909	single nucleotide variant	NM_024678.6(NARS2):c.506T>A (p.Phe169Tyr)	Combined oxidative phosphorylation defect type 24 [RCV004725210]\|Combined oxidative phosphorylation defect type 24 [RCV004820846]\|Inborn genetic diseases [RCV002521510]\|not provided [RCV000434134]	likely benign\|uncertain significance	11	78566139	78566139	Human	3	name
12839087	CV371731	single nucleotide variant	NM_024678.6(NARS2):c.899A>G (p.Lys300Arg)	not provided [RCV000992453]\|not specified [RCV000428174]	benign	11	78478607	78478607	Human		name
12849544	CV372454	single nucleotide variant	NM_024678.6(NARS2):c.727C>T (p.Arg243Ter)	Hearing loss, autosomal recessive 94 [RCV001270100]\|not provided [RCV000431641]	pathogenic\|likely pathogenic	11	78493158	78493158	Human	1	name
12849364	CV372455	single nucleotide variant	NM_024678.6(NARS2):c.418C>T (p.Arg140Ter)	Combined oxidative phosphorylation defect type 24 [RCV002468578]\|not provided [RCV000428736]	pathogenic\|likely pathogenic	11	78566227	78566227	Human	1	name
597664358	CV3732517	single nucleotide variant	NM_004539.4(NARS1):c.574A>G (p.Lys192Glu)	not provided [RCV005003986]	uncertain significance	18	57609362	57609362	Human		name
597935111	CV3863620	single nucleotide variant	NM_004539.4(NARS1):c.632C>A (p.Ala211Asp)	not provided [RCV005207433]	uncertain significance	18	57607613	57607613	Human		name
598227427	CV3895972	single nucleotide variant	NM_004539.4(NARS1):c.646G>A (p.Ala216Thr)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV005362239]	uncertain significance	18	57607599	57607599	Human	1	name
598159316	CV3987276	single nucleotide variant	NM_004539.4(NARS1):c.740A>C (p.Lys247Thr)	not specified [RCV005390129]	uncertain significance	18	57607505	57607505	Human		name
598159319	CV3987277	single nucleotide variant	NM_004539.4(NARS1):c.965G>A (p.Arg322Gln)	not specified [RCV005390130]	uncertain significance	18	57607170	57607170	Human		name
616938636	CV4015092	deletion	NM_004539.4(NARS1):c.1022del (p.Glu341fs)	not provided [RCV005412109]	likely pathogenic	18	57606731	57606731	Human		name
617150942	CV4021963	single nucleotide variant	NM_004539.4(NARS1):c.356C>T (p.Ala119Val)	not provided [RCV005426924]	uncertain significance	18	57613667	57613667	Human		name
12894171	CV408483	single nucleotide variant	NM_024678.6(NARS2):c.631T>A (p.Phe211Ile)	Combined oxidative phosphorylation defect type 24 [RCV000779616]\|not provided [RCV000481783]	pathogenic\|likely pathogenic	11	78528900	78528900	Human	1	name
12906895	CV415311	single nucleotide variant	NM_024678.6(NARS2):c.749G>A (p.Arg250Gln)	Combined oxidative phosphorylation defect type 24 [RCV002468582]\|not provided [RCV000489785]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	11	78493136	78493136	Human	1	name
12907112	CV415312	single nucleotide variant	NM_024678.6(NARS2):c.688G>C (p.Gly230Arg)	not provided [RCV000490045]	uncertain significance	11	78528843	78528843	Human		name
13831801	CV582299	single nucleotide variant	NM_024678.6(NARS2):c.390T>A (p.Tyr130Ter)	not provided [RCV000722484]	uncertain significance	11	78566255	78566255	Human		name
14690197	CV621005	single nucleotide variant	NM_024678.6(NARS2):c.969T>A (p.Tyr323Ter)	Combined oxidative phosphorylation defect type 24 [RCV000779611]\|not provided [RCV001784392]	pathogenic\|likely pathogenic	11	78469304	78469304	Human	1	name
14689477	CV621008	single nucleotide variant	NM_024678.6(NARS2):c.637G>T (p.Val213Phe)	Hearing loss, autosomal recessive 94 [RCV000779614]	pathogenic\|likely pathogenic\|uncertain significance	11	78528894	78528894	Human	1	name
14688251	CV621011	single nucleotide variant	NM_024678.6(NARS2):c.707T>G (p.Phe236Cys)	Combined oxidative phosphorylation defect type 24 [RCV000779617]	pathogenic	11	78493178	78493178	Human	1	name
14688252	CV621014	single nucleotide variant	NM_024678.6(NARS2):c.500A>G (p.His167Arg)	Combined oxidative phosphorylation defect type 24 [RCV000779620]\|not provided [RCV001856178]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	11	78566145	78566145	Human	1	name
15197712	CV752996	single nucleotide variant	NM_024678.6(NARS2):c.311A>G (p.Lys104Arg)	not provided [RCV000912050]	benign	11	78568693	78568693	Human		name
40814814	CV861035	single nucleotide variant	NM_024678.6(NARS2):c.545T>A (p.Ile182Lys)	Combined oxidative phosphorylation defect type 24 [RCV001261537]	pathogenic\|uncertain significance	11	78559588	78559588	Human	1	name
126742615	CV1017530	single nucleotide variant	NM_024678.6(NARS2):c.1303C>T (p.Arg435Cys)	Combined oxidative phosphorylation defect type 24 [RCV001329995]	uncertain significance	11	78436801	78436801	Human	1	name
127274468	CV1065752	single nucleotide variant	NM_004539.4(NARS1):c.1525G>A (p.Gly509Ser)	Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities [RCV001391249]	uncertain significance	18	57601774	57601774	Human	1	name
127274466	CV1065753	single nucleotide variant	NM_004539.4(NARS1):c.1376C>T (p.Thr459Ile)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV001391248]\|not provided [RCV001751753]	uncertain significance	18	57602819	57602819	Human	1	name
127274465	CV1065754	single nucleotide variant	NM_004539.4(NARS1):c.1264G>A (p.Ala422Thr)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV001391247]	uncertain significance	18	57602931	57602931	Human	1	name
127274464	CV1065755	single nucleotide variant	NM_004539.4(NARS1):c.1049T>C (p.Leu350Pro)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV001391246]	uncertain significance	18	57606704	57606704	Human	1	name
150546166	CV1313612	single nucleotide variant	NM_024678.6(NARS2):c.1236C>G (p.Tyr412Ter)	Combined oxidative phosphorylation defect type 24 [RCV005237986]\|not provided [RCV001784709]	pathogenic	11	78443687	78443687	Human	1	name
151235439	CV1318754	single nucleotide variant	NM_024678.6(NARS2):c.1385T>C (p.Ile462Thr)	NARS2-related primary mitochondrial disorder [RCV001795572]	uncertain significance	11	78436719	78436719	Human		name , trait
151351618	CV1321865	single nucleotide variant	NM_004539.4(NARS1):c.1130T>C (p.Leu377Pro)	not provided [RCV001806535]	uncertain significance	18	57606623	57606623	Human		name
151352793	CV1326056	single nucleotide variant	NM_024678.6(NARS2):c.1096G>A (p.Val366Ile)	Inborn genetic diseases [RCV004040945]\|not provided [RCV001815727]	likely benign\|uncertain significance	11	78465944	78465944	Human	1	name
151662958	CV1330789	single nucleotide variant	NM_004539.4(NARS1):c.1522T>C (p.Tyr508His)	not provided [RCV001824525]	uncertain significance	18	57601777	57601777	Human		name
151836676	CV1469249	single nucleotide variant	NM_024678.6(NARS2):c.1307G>A (p.Arg436Gln)	Inborn genetic diseases [RCV004038863]\|not provided [RCV002051286]	uncertain significance	11	78436797	78436797	Human	1	name
153000873	CV1683897	single nucleotide variant	NM_024678.6(NARS2):c.1141A>G (p.Asn381Asp)	Combined oxidative phosphorylation defect type 24 [RCV002254491]\|not provided [RCV003126207]	likely pathogenic\|uncertain significance	11	78465899	78465899	Human	1	name
153000874	CV1683898	single nucleotide variant	NM_024678.6(NARS2):c.1290G>C (p.Trp430Cys)	Combined oxidative phosphorylation defect type 24 [RCV002254492]	uncertain significance	11	78436814	78436814	Human	1	name
153348409	CV1692446	single nucleotide variant	NM_004539.4(NARS1):c.1564C>T (p.Arg522Ter)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV002274299]	pathogenic\|likely pathogenic	18	57601735	57601735	Human	1	name
155804097	CV1858645	single nucleotide variant	NM_004539.4(NARS1):c.1040T>C (p.Phe347Ser)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV002463419]	uncertain significance	18	57606713	57606713	Human	1	name
155804098	CV1858646	single nucleotide variant	NM_004539.4(NARS1):c.1057C>T (p.Arg353Trp)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV002463420]	uncertain significance	18	57606696	57606696	Human	1	name
156168953	CV1867005	single nucleotide variant	NM_004539.4(NARS1):c.1091G>T (p.Arg364Leu)	not provided [RCV002508557]	uncertain significance	18	57606662	57606662	Human		name
156045877	CV1867485	single nucleotide variant	NM_004539.4(NARS1):c.1218G>T (p.Lys406Asn)	not provided [RCV002509957]	uncertain significance	18	57605890	57605890	Human		name
156208403	CV1913352	single nucleotide variant	NM_024678.6(NARS2):c.1096G>C (p.Val366Leu)	not provided [RCV002595973]	uncertain significance	11	78465944	78465944	Human		name
156034861	CV2002591	single nucleotide variant	NM_024678.6(NARS2):c.1325A>C (p.His442Pro)	not provided [RCV002658811]	uncertain significance	11	78436779	78436779	Human		name
156350112	CV2005625	single nucleotide variant	NM_024678.6(NARS2):c.1018A>T (p.Thr340Ser)	not provided [RCV002650820]	uncertain significance	11	78469255	78469255	Human		name
156350129	CV2005626	single nucleotide variant	NM_024678.6(NARS2):c.1009T>C (p.Phe337Leu)	not provided [RCV002650821]	uncertain significance	11	78469264	78469264	Human		name
156057636	CV2024004	single nucleotide variant	NM_024678.6(NARS2):c.1189C>T (p.Pro397Ser)	not provided [RCV002736724]	uncertain significance	11	78443734	78443734	Human		name
156196282	CV2038271	single nucleotide variant	NM_024678.6(NARS2):c.1315T>C (p.Ser439Pro)	not provided [RCV002766077]	uncertain significance	11	78436789	78436789	Human		name
156351128	CV2069613	single nucleotide variant	NM_024678.6(NARS2):c.1031G>T (p.Gly344Val)	not provided [RCV002811797]	uncertain significance	11	78466009	78466009	Human		name
156229286	CV2115525	single nucleotide variant	NM_024678.6(NARS2):c.1237C>G (p.His413Asp)	Inborn genetic diseases [RCV002932764]\|not provided [RCV002932765]	uncertain significance	11	78443686	78443686	Human	1	name
156193039	CV2162290	single nucleotide variant	NM_024678.6(NARS2):c.1421C>T (p.Ser474Leu)	not provided [RCV003041711]	uncertain significance	11	78436683	78436683	Human		name
156249063	CV2215514	single nucleotide variant	NM_024678.6(NARS2):c.1417C>A (p.His473Asn)	Inborn genetic diseases [RCV002702325]\|not provided [RCV003730265]	likely benign	11	78436687	78436687	Human	1	name
156383203	CV2223821	single nucleotide variant	NM_024678.6(NARS2):c.1039C>G (p.Leu347Val)	Inborn genetic diseases [RCV002722938]	uncertain significance	11	78466001	78466001	Human	1	name
155907562	CV2354449	single nucleotide variant	NM_024678.6(NARS2):c.1252C>T (p.Arg418Cys)	Inborn genetic diseases [RCV002990725]	uncertain significance	11	78443671	78443671	Human	1	name
329363125	CV2445878	single nucleotide variant	NM_004539.4(NARS1):c.1417G>A (p.Val473Met)	not specified [RCV004270494]	uncertain significance	18	57602453	57602453	Human		name
329847621	CV2524368	single nucleotide variant	NM_004539.4(NARS1):c.1025G>A (p.Cys342Tyr)	not provided [RCV003227260]	uncertain significance	18	57606728	57606728	Human		name
329848149	CV2667768	single nucleotide variant	NM_004539.4(NARS1):c.1597A>G (p.Ile533Val)	not provided [RCV003229335]	uncertain significance	18	57601702	57601702	Human		name
401727049	CV2684447	single nucleotide variant	NM_024678.6(NARS2):c.1196T>G (p.Val399Gly)	Inborn genetic diseases [RCV003269851]	uncertain significance	11	78443727	78443727	Human	1	name
401782110	CV2686536	single nucleotide variant	NM_024678.6(NARS2):c.1145A>C (p.Glu382Ala)	Inborn genetic diseases [RCV003265569]\|not provided [RCV005416712]	uncertain significance	11	78465895	78465895	Human	1	name
401745004	CV2693159	single nucleotide variant	NM_024678.6(NARS2):c.1382A>G (p.Asn461Ser)	Inborn genetic diseases [RCV003241701]	uncertain significance	11	78436722	78436722	Human	1	name
401751674	CV2727098	single nucleotide variant	NM_004539.4(NARS1):c.1601G>A (p.Arg534Gln)	not provided [RCV003410336]\|not specified [RCV004325464]	uncertain significance	18	57601698	57601698	Human		name
401796330	CV2740512	single nucleotide variant	NM_004539.4(NARS1):c.1495T>C (p.Tyr499His)	not provided [RCV003321182]	uncertain significance	18	57602375	57602375	Human		name
401799099	CV2741675	single nucleotide variant	NM_024678.6(NARS2):c.1246G>C (p.Glu416Gln)	not provided [RCV003323083]	uncertain significance	11	78443677	78443677	Human		name
401908087	CV2818379	single nucleotide variant	NM_004539.4(NARS1):c.1640C>T (p.Thr547Met)	not provided [RCV003423095]\|not specified [RCV004364557]	uncertain significance	18	57601659	57601659	Human		name
401906734	CV2818384	single nucleotide variant	NM_004539.4(NARS1):c.1151C>T (p.Pro384Leu)	not provided [RCV003421654]\|not specified [RCV004364558]	uncertain significance	18	57605957	57605957	Human		name
401916901	CV2829560	single nucleotide variant	NM_004539.4(NARS1):c.1175A>C (p.Asn392Thr)	not provided [RCV003443604]	uncertain significance	18	57605933	57605933	Human		name
401918309	CV2831282	single nucleotide variant	NM_024678.6(NARS2):c.1352G>A (p.Arg451His)	Combined oxidative phosphorylation defect type 24 [RCV003444047]	uncertain significance	11	78436752	78436752	Human	1	name
401944516	CV2840250	single nucleotide variant	NM_004539.4(NARS1):c.1202A>C (p.Lys401Thr)	not provided [RCV003457003]\|not specified [RCV004827967]	uncertain significance	18	57605906	57605906	Human		name
401961865	CV2844188	single nucleotide variant	NM_024678.6(NARS2):c.1174G>A (p.Val392Ile)	not provided [RCV003482029]	uncertain significance	11	78443749	78443749	Human		name
405085299	CV2865736	single nucleotide variant	NM_024678.6(NARS2):c.1311T>G (p.Phe437Leu)	not provided [RCV003549429]	uncertain significance	11	78436793	78436793	Human		name
405059306	CV2929041	single nucleotide variant	NM_004539.4(NARS1):c.1568T>C (p.Phe523Ser)	not provided [RCV003580350]	uncertain significance	18	57601731	57601731	Human		name
402489217	CV2995694	single nucleotide variant	NM_004539.4(NARS1):c.1138A>G (p.Asn380Asp)	not provided [RCV003687369]	uncertain significance	18	57605970	57605970	Human		name
405220099	CV3059813	single nucleotide variant	NM_024678.6(NARS2):c.1100T>C (p.Ile367Thr)	not provided [RCV003733176]	uncertain significance	11	78465940	78465940	Human		name
405265402	CV3185627	single nucleotide variant	NM_004539.4(NARS1):c.1369C>T (p.Arg457Cys)	not provided [RCV003886191]	uncertain significance	18	57602826	57602826	Human		name
405765709	CV3328351	single nucleotide variant	NM_004539.4(NARS1):c.1042G>T (p.Asp348Tyr)	not specified [RCV004469405]	uncertain significance	18	57606711	57606711	Human		name
405765744	CV3328357	single nucleotide variant	NM_004539.4(NARS1):c.1124A>G (p.His375Arg)	not specified [RCV004469411]	likely benign	18	57606629	57606629	Human		name
405765799	CV3328366	single nucleotide variant	NM_004539.4(NARS1):c.1154A>G (p.Lys385Arg)	not specified [RCV004469420]	uncertain significance	18	57605954	57605954	Human		name
405765827	CV3328371	single nucleotide variant	NM_004539.4(NARS1):c.1169G>A (p.Arg390Gln)	not specified [RCV004469425]	uncertain significance	18	57605939	57605939	Human		name
405765878	CV3328379	single nucleotide variant	NM_004539.4(NARS1):c.1192G>A (p.Val398Ile)	not specified [RCV004469433]	likely benign	18	57605916	57605916	Human		name
405765890	CV3328381	single nucleotide variant	NM_004539.4(NARS1):c.1213G>A (p.Val405Ile)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV005363327]\|not provided [RCV004775567]\|not specified [RCV004469435]	likely benign\|uncertain significance	18	57605895	57605895	Human	1	name
405765901	CV3328383	single nucleotide variant	NM_004539.4(NARS1):c.1264G>C (p.Ala422Pro)	not specified [RCV004469437]	uncertain significance	18	57602931	57602931	Human		name
405765906	CV3328384	single nucleotide variant	NM_004539.4(NARS1):c.1303A>G (p.Ile435Val)	not specified [RCV004469438]	uncertain significance	18	57602892	57602892	Human		name
405765929	CV3328388	single nucleotide variant	NM_004539.4(NARS1):c.1324G>A (p.Val442Met)	not specified [RCV004469442]	uncertain significance	18	57602871	57602871	Human		name
405765961	CV3328393	single nucleotide variant	NM_004539.4(NARS1):c.1435A>G (p.Ile479Val)	not specified [RCV004469447]	uncertain significance	18	57602435	57602435	Human		name
405765980	CV3328396	single nucleotide variant	NM_004539.4(NARS1):c.1574C>T (p.Thr525Met)	not provided [RCV004810685]\|not specified [RCV004469450]	uncertain significance	18	57601725	57601725	Human		name
405765990	CV3328398	single nucleotide variant	NM_004539.4(NARS1):c.1606G>A (p.Val536Met)	not specified [RCV004469452]	uncertain significance	18	57601693	57601693	Human		name
405766017	CV3328403	single nucleotide variant	NM_004539.4(NARS1):c.1616A>G (p.Tyr539Cys)	not specified [RCV004469457]	uncertain significance	18	57601683	57601683	Human		name
405867924	CV3396665	single nucleotide variant	NM_004539.4(NARS1):c.1555G>A (p.Gly519Ser)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV004560537]	uncertain significance	18	57601744	57601744	Human	1	name
407426576	CV3411403	single nucleotide variant	NM_004539.4(NARS1):c.1351C>T (p.Arg451Ter)	not provided [RCV004590580]	uncertain significance	18	57602844	57602844	Human		name
407487867	CV3447958	single nucleotide variant	NM_024678.6(NARS2):c.1214G>T (p.Gly405Val)	Inborn genetic diseases [RCV004641185]	uncertain significance	11	78443709	78443709	Human	1	name
407477628	CV3495175	single nucleotide variant	NM_004539.4(NARS1):c.1108G>A (p.Ala370Thr)	not specified [RCV004691078]	uncertain significance	18	57606645	57606645	Human		name
407507102	CV3496046	single nucleotide variant	NM_004539.4(NARS1):c.1058G>A (p.Arg353Gln)	not provided [RCV004697886]	uncertain significance	18	57606695	57606695	Human		name
408366582	CV3500246	single nucleotide variant	NM_004539.4(NARS1):c.1319T>C (p.Phe440Ser)	not provided [RCV004722289]	likely pathogenic	18	57602876	57602876	Human		name
408377379	CV3501554	single nucleotide variant	NM_004539.4(NARS1):c.1058G>C (p.Arg353Pro)	not provided [RCV004727612]	uncertain significance	18	57606695	57606695	Human		name
408389866	CV3519108	single nucleotide variant	NM_004539.4(NARS1):c.1526G>T (p.Gly509Val)	not provided [RCV004762417]	uncertain significance	18	57601773	57601773	Human		name
408388151	CV3520664	single nucleotide variant	NM_024678.6(NARS2):c.1192G>A (p.Gly398Arg)	not provided [RCV004761497]	uncertain significance	11	78443731	78443731	Human		name
408394593	CV3521511	single nucleotide variant	NM_004539.4(NARS1):c.1228G>A (p.Gly410Arg)	Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities [RCV004764308]	likely pathogenic\|uncertain significance	18	57605880	57605880	Human	1	name
408386557	CV3522580	single nucleotide variant	NM_004539.4(NARS1):c.1168C>T (p.Arg390Trp)	not provided [RCV004767940]	uncertain significance	18	57605940	57605940	Human		name
408391618	CV3523281	single nucleotide variant	NM_004539.4(NARS1):c.1376C>G (p.Thr459Ser)	not provided [RCV004770654]	uncertain significance	18	57602819	57602819	Human		name
408381506	CV3523895	single nucleotide variant	NM_004539.4(NARS1):c.1101G>C (p.Lys367Asn)	not provided [RCV004766293]	uncertain significance	18	57606652	57606652	Human		name
408392039	CV3526446	single nucleotide variant	NM_024678.6(NARS2):c.1410G>T (p.Arg470Ser)	not provided [RCV004775695]	uncertain significance	11	78436694	78436694	Human		name
408388471	CV3527510	single nucleotide variant	NM_024678.6(NARS2):c.1137G>T (p.Arg379Ser)	not provided [RCV004773814]	uncertain significance	11	78465903	78465903	Human		name
408390848	CV3527787	single nucleotide variant	NM_004539.4(NARS1):c.1477G>A (p.Gly493Arg)	not provided [RCV004775056]	uncertain significance	18	57602393	57602393	Human		name
596926088	CV3536102	single nucleotide variant	NM_004539.4(NARS1):c.1565G>A (p.Arg522Gln)	Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities [RCV004788532]	uncertain significance	18	57601734	57601734	Human	1	name
597655907	CV3565214	single nucleotide variant	NM_004539.4(NARS1):c.1390G>A (p.Val464Met)	not specified [RCV004834118]	uncertain significance	18	57602480	57602480	Human		name
597655898	CV3565215	single nucleotide variant	NM_004539.4(NARS1):c.1569C>A (p.Phe523Leu)	not specified [RCV004834119]	uncertain significance	18	57601730	57601730	Human		name
597655880	CV3565217	single nucleotide variant	NM_004539.4(NARS1):c.1229G>A (p.Gly410Glu)	not specified [RCV004834121]	uncertain significance	18	57605879	57605879	Human		name
597712485	CV3565220	single nucleotide variant	NM_024678.6(NARS2):c.1232G>A (p.Arg411Gln)	Inborn genetic diseases [RCV004959316]	uncertain significance	11	78443691	78443691	Human	1	name
597712505	CV3565222	single nucleotide variant	NM_024678.6(NARS2):c.1115C>G (p.Thr372Arg)	Inborn genetic diseases [RCV004959318]	uncertain significance	11	78465925	78465925	Human	1	name
597656806	CV3731612	single nucleotide variant	NM_004539.4(NARS1):c.1222G>C (p.Glu408Gln)	not provided [RCV005001793]	uncertain significance	18	57605886	57605886	Human		name
597657077	CV3731640	single nucleotide variant	NM_004539.4(NARS1):c.1538A>G (p.His513Arg)	not provided [RCV005001821]	uncertain significance	18	57601761	57601761	Human		name
597972594	CV3790405	single nucleotide variant	NM_024678.6(NARS2):c.1165G>A (p.Val389Ile)	not provided [RCV005142828]	uncertain significance	11	78443758	78443758	Human		name
598125606	CV3885839	single nucleotide variant	NM_024678.6(NARS2):c.1025A>T (p.Glu342Val)	not provided [RCV005241642]	uncertain significance	11	78469248	78469248	Human		name
598159324	CV3987278	single nucleotide variant	NM_024678.6(NARS2):c.1392T>A (p.Asp464Glu)	Inborn genetic diseases [RCV005390131]	uncertain significance	11	78436712	78436712	Human	1	name
598159325	CV3987280	single nucleotide variant	NM_024678.6(NARS2):c.1052A>G (p.His351Arg)	Inborn genetic diseases [RCV005390132]	uncertain significance	11	78465988	78465988	Human	1	name
598215324	CV3987281	single nucleotide variant	NM_024678.6(NARS2):c.1286A>T (p.Gln429Leu)	Inborn genetic diseases [RCV005378730]	uncertain significance	11	78441094	78441094	Human	1	name
616937862	CV4013789	single nucleotide variant	NM_004539.4(NARS1):c.1423G>A (p.Gly475Ser)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV005413281]	uncertain significance	18	57602447	57602447	Human	1	name
616936655	CV4016461	single nucleotide variant	NM_024678.6(NARS2):c.1030G>C (p.Gly344Arg)	Acute refractory chorea [RCV005415323]	uncertain significance	11	78466010	78466010	Human		name
617150596	CV4018924	single nucleotide variant	NM_024678.6(NARS2):c.1388A>G (p.Lys463Arg)	not provided [RCV005423332]	uncertain significance	11	78436716	78436716	Human		name
617151293	CV4021755	single nucleotide variant	NM_004539.4(NARS1):c.1121T>G (p.Val374Gly)	not provided [RCV005426716]	uncertain significance	18	57606632	57606632	Human		name
13528769	CV513606	single nucleotide variant	NM_024678.6(NARS2):c.1306C>G (p.Arg436Gly)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000626109]	pathogenic\|uncertain significance	11	78436798	78436798	Human	1	name
14690200	CV621006	single nucleotide variant	NM_024678.6(NARS2):c.1142A>G (p.Asn381Ser)	Combined oxidative phosphorylation defect type 24 [RCV000779612]	pathogenic\|likely pathogenic	11	78465898	78465898	Human	1	name
14690202	CV621012	single nucleotide variant	NM_024678.6(NARS2):c.1184T>G (p.Leu395Arg)	Combined oxidative phosphorylation defect type 24 [RCV000779618]	pathogenic	11	78443739	78443739	Human	1	name
15180918	CV713197	single nucleotide variant	NM_024678.6(NARS2):c.1042C>T (p.Arg348Trp)	not provided [RCV000974267]	likely benign\|conflicting interpretations of pathogenicity	11	78465998	78465998	Human		name
21072063	CV791182	single nucleotide variant	NM_024678.6(NARS2):c.1253G>A (p.Arg418His)	Combined oxidative phosphorylation defect type 24 [RCV000988619]\|not provided [RCV001858696]\|not specified [RCV004702557]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	11	78443670	78443670	Human	1	name
25318536	CV805712	single nucleotide variant	NM_024678.6(NARS2):c.1306C>T (p.Arg436Ter)	not provided [RCV001008682]\|not specified [RCV003994189]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	11	78436798	78436798	Human		name
38494797	CV959510	single nucleotide variant	NM_024678.6(NARS2):c.1361A>G (p.Gln454Arg)	Combined oxidative phosphorylation defect type 24 [RCV004789485]	uncertain significance	11	78436743	78436743	Human	1	name
40814903	CV971106	single nucleotide variant	NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter)	Developmental disorder [RCV003127739]\|Neurodevelopmental disorder [RCV001262349]\|Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV002274170]\|Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities [RCV001267639]\|n ... (more) ot provided [RCV002537635]	pathogenic\|likely pathogenic	18	57601699	57601699	Human	4	name
40815483	CV971107	single nucleotide variant	NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala)	Neurodevelopmental disorder [RCV001262914]\|Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV001267636]\|See cases [RCV002252350]\|not provided [RCV001780213]\|not specified [RCV004035403]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	18	57606686	57606686	Human	2	name
126909466	CV972469	single nucleotide variant	NM_024678.6(NARS2):c.1339A>G (p.Met447Val)	Sensorineural hearing loss disorder [RCV001353197]\|not provided [RCV003135904]	likely pathogenic\|uncertain significance	11	78436765	78436765	Human	2	name
40888093	CV974447	single nucleotide variant	NM_004539.4(NARS1):c.1633C>T (p.Arg545Cys)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities [RCV001267637]\|not provided [RCV004570660]	pathogenic\|likely pathogenic	18	57601666	57601666	Human	1	name
243054569	CV2410602	microsatellite	NM_024678.6(NARS2):c.224TTG[1] (p.Val76del)	not provided [RCV003131685]	uncertain significance	11	78571357	78571359	Human		name
408381692	CV3526569	deletion	NM_004539.4(NARS1):c.685_686del (p.Gln229fs)	not provided [RCV004771882]	uncertain significance	18	57607559	57607560	Human		name
596922783	CV3530096	insertion	NM_004539.4(NARS1):c.389_390insA (p.Phe131fs)	not provided [RCV004776695]	uncertain significance	18	57613633	57613634	Human		name
151866320	CV1399451	insertion	NM_024678.6(NARS2):c.1252_1253insTAAG (p.Arg418fs)	not provided [RCV001884577]	uncertain significance	11	78443670	78443671	Human		name
329352146	CV2476718	indel	NM_004539.4(NARS1):c.812_813delinsGC (p.Pro271Arg)	not provided [RCV003222950]	uncertain significance	18	57607322	57607323	Human		name
598208427	CV4007697	microsatellite	NM_024678.6(NARS2):c.563_564del (p.Asp187_Ser188insTer)	Combined oxidative phosphorylation defect type 24 [RCV005400011]	likely pathogenic	11	78559569	78559570	Human		name
407428951	CV3413338	duplication	NM_024678.6(NARS2):c.936_949dup (p.Asn317delinsIleCysTer)	Combined oxidative phosphorylation defect type 24 [RCV004594744]	pathogenic	11	78478447	78478448	Human	1	name
126742617	CV1017532	insertion	NM_024678.6(NARS2):c.606_607insAGC (p.Lys202_Leu203insSer)	Combined oxidative phosphorylation defect type 24 [RCV001329996]\|not provided [RCV002546367]	uncertain significance	11	78528924	78528925	Human	1	name

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