Fars2 Variant Search Result - Rat Genome Database

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511 records found for search term Fars2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
13827687	CV578635	single nucleotide variant	NM_006567.5(FARS2):c.*4C>T	Combined oxidative phosphorylation defect type 14 [RCV000714911]	uncertain significance	6	5771433	5771433	Human	1	name
150458384	CV1278761	single nucleotide variant	NM_006567.5(FARS2):c.-70A>G	not provided [RCV001709378]	benign	6	5261612	5261612	Human		name
150335900	CV1171602	single nucleotide variant	NM_006567.4(FARS2):c.-307T>C	not provided [RCV001540754]	benign	6	5261375	5261375	Human		name
150419968	CV1180207	single nucleotide variant	NM_006567.4(FARS2):c.-262G>C	not provided [RCV001551317]	likely benign	6	5261420	5261420	Human		name
150435696	CV1233933	single nucleotide variant	NM_006567.4(FARS2):c.-312T>C	not provided [RCV001644060]	benign	6	5261370	5261370	Human		name
150492542	CV1238498	single nucleotide variant	NM_006567.4(FARS2):c.-314T>C	not provided [RCV001655042]	benign	6	5261368	5261368	Human		name
150436415	CV1249692	single nucleotide variant	NM_006567.4(FARS2):c.-340T>C	not provided [RCV001665606]	benign	6	5261342	5261342	Human		name
150472140	CV1281148	single nucleotide variant	NM_006567.4(FARS2):c.-234A>G	not provided [RCV001713319]	benign	6	5261448	5261448	Human		name
126920838	CV1044195	single nucleotide variant	NM_006567.5(FARS2):c.904+3A>G	Combined oxidative phosphorylation defect type 14 [RCV001363111]	uncertain significance	6	5431175	5431175	Human	1	name
127319358	CV1137780	single nucleotide variant	NM_006567.5(FARS2):c.904+9G>T	Combined oxidative phosphorylation defect type 14 [RCV001503996]	likely benign	6	5431181	5431181	Human	1	name
156413171	CV1887717	single nucleotide variant	NM_006567.5(FARS2):c.773-7T>C	Combined oxidative phosphorylation defect type 14 [RCV003073186]	likely benign	6	5431034	5431034	Human	1	name
156315282	CV1901176	single nucleotide variant	NM_006567.5(FARS2):c.772+4A>G	Combined oxidative phosphorylation defect type 14 [RCV002578918]	uncertain significance	6	5404705	5404705	Human	1	name
155910788	CV2084679	single nucleotide variant	NM_006567.5(FARS2):c.773-9A>C	Combined oxidative phosphorylation defect type 14 [RCV002858471]	likely benign	6	5431032	5431032	Human	1	name
156156690	CV2142484	single nucleotide variant	NM_006567.5(FARS2):c.613-2A>G	Combined oxidative phosphorylation defect type 14 [RCV002982845]	likely pathogenic	6	5404540	5404540	Human	1	name
156258342	CV2219973	single nucleotide variant	NM_006567.5(FARS2):c.773-6T>A	Inborn genetic diseases [RCV002702868]	uncertain significance	6	5431035	5431035	Human	1	name
405013793	CV2954772	single nucleotide variant	NM_006567.5(FARS2):c.613-9G>C	Combined oxidative phosphorylation defect type 14 [RCV003649596]	likely benign	6	5404533	5404533	Human	1	name
405016422	CV3046263	single nucleotide variant	NM_006567.5(FARS2):c.772+7G>A	Combined oxidative phosphorylation defect type 14 [RCV003649919]	likely benign	6	5404708	5404708	Human	1	name
597902437	CV3851445	single nucleotide variant	NM_006567.5(FARS2):c.772+2T>A	Combined oxidative phosphorylation defect type 14 [RCV005202222]	likely pathogenic	6	5404703	5404703	Human	1	name
13491622	CV455657	single nucleotide variant	NM_006567.5(FARS2):c.613-4A>G	Combined oxidative phosphorylation defect type 14 [RCV000534362]	likely benign	6	5404538	5404538	Human	1	name
13827717	CV578623	single nucleotide variant	NM_006567.5(FARS2):c.905-1G>A	Combined oxidative phosphorylation defect type 14 [RCV000714949]	likely pathogenic	6	5545179	5545179	Human	1	name
15120096	CV775238	single nucleotide variant	NM_006567.5(FARS2):c.905-5C>T	Combined oxidative phosphorylation defect type 14 [RCV001466751]	likely benign	6	5545175	5545175	Human	1	name
15133464	CV787413	single nucleotide variant	NM_006567.5(FARS2):c.904+9G>C	Combined oxidative phosphorylation defect type 14 [RCV000981556]	likely benign	6	5431181	5431181	Human	1	name
38484821	CV959808	single nucleotide variant	NM_006567.5(FARS2):c.772+4A>C	Combined oxidative phosphorylation defect type 14 [RCV001236527]	uncertain significance	6	5404705	5404705	Human	1	name
127240170	CV1095305	deletion	NM_006567.5(FARS2):c.904+16del	Combined oxidative phosphorylation defect type 14 [RCV001423252]	likely benign	6	5431188	5431188	Human	1	name
127266279	CV1095390	single nucleotide variant	NM_006567.5(FARS2):c.1218-5T>C	Combined oxidative phosphorylation defect type 14 [RCV001440203]	likely benign	6	5771286	5771286	Human	1	name
150406045	CV1193812	single nucleotide variant	NM_006567.5(FARS2):c.772+25G>A	not provided [RCV001571902]	likely benign	6	5404726	5404726	Human		name
150405918	CV1193813	single nucleotide variant	NM_006567.5(FARS2):c.905-45A>G	not provided [RCV001571847]	likely benign	6	5545135	5545135	Human		name
150433222	CV1203604	single nucleotide variant	NM_006567.5(FARS2):c.612+48T>G	not provided [RCV001581760]	likely benign	6	5369230	5369230	Human		name
150433253	CV1203614	single nucleotide variant	NM_006567.5(FARS2):c.905-40G>A	not provided [RCV001581770]	likely benign	6	5545140	5545140	Human		name
150495646	CV1225127	single nucleotide variant	NM_006567.5(FARS2):c.772+24C>T	not provided [RCV001619605]\|not specified [RCV004598057]	benign	6	5404725	5404725	Human		name
150459926	CV1231254	deletion	NM_006567.5(FARS2):c.772+86del	not provided [RCV001640818]	benign	6	5404772	5404772	Human		name
150490482	CV1239125	single nucleotide variant	NM_006567.5(FARS2):c.-22+94A>T	not provided [RCV001654693]	benign	6	5261754	5261754	Human		name
150443519	CV1277870	duplication	NM_006567.5(FARS2):c.772+86dup	not provided [RCV001707013]	benign	6	5404771	5404772	Human		name
151233354	CV1320325	single nucleotide variant	NM_001318872.2(FARS2):c.-73C>T	not provided [RCV001799949]	benign	6	5261307	5261307	Human		name
151726210	CV1415926	single nucleotide variant	NM_006567.5(FARS2):c.1066-9T>G	Combined oxidative phosphorylation defect type 14 [RCV001945554]	likely benign\|uncertain significance	6	5613160	5613160	Human	1	name
151774498	CV1440081	single nucleotide variant	NM_006567.5(FARS2):c.1217+4A>G	Combined oxidative phosphorylation defect type 14 [RCV001874766]	uncertain significance	6	5613324	5613324	Human	1	name
152058082	CV1523290	single nucleotide variant	NM_006567.5(FARS2):c.612+19C>A	Combined oxidative phosphorylation defect type 14 [RCV002167687]	likely benign	6	5369201	5369201	Human	1	name
152120051	CV1547199	single nucleotide variant	NM_006567.5(FARS2):c.1218-7T>C	Combined oxidative phosphorylation defect type 14 [RCV002154138]	likely benign	6	5771284	5771284	Human	1	name
152087126	CV1601138	single nucleotide variant	NM_006567.5(FARS2):c.612+12G>A	Combined oxidative phosphorylation defect type 14 [RCV002093637]	likely benign	6	5369194	5369194	Human	1	name
156161508	CV1872355	single nucleotide variant	NM_006567.5(FARS2):c.772+20T>C	Combined oxidative phosphorylation defect type 14 [RCV003056922]	likely benign	6	5404721	5404721	Human	1	name
156353578	CV1974844	single nucleotide variant	NM_006567.5(FARS2):c.905-20A>C	Combined oxidative phosphorylation defect type 14 [RCV002602002]	likely benign	6	5545160	5545160	Human	1	name
156399463	CV2013185	single nucleotide variant	NM_006567.5(FARS2):c.773-17C>T	Combined oxidative phosphorylation defect type 14 [RCV002725873]	likely benign	6	5431024	5431024	Human	1	name
156016543	CV2177533	single nucleotide variant	NM_006567.5(FARS2):c.904+16A>G	Combined oxidative phosphorylation defect type 14 [RCV003035514]	likely benign	6	5431188	5431188	Human	1	name
405083759	CV2899952	single nucleotide variant	NM_006567.5(FARS2):c.772+11A>T	Combined oxidative phosphorylation defect type 14 [RCV003535401]	likely benign	6	5404712	5404712	Human	1	name
405092535	CV2907705	single nucleotide variant	NM_006567.5(FARS2):c.613-10T>G	Combined oxidative phosphorylation defect type 14 [RCV003536590]	likely benign	6	5404532	5404532	Human	1	name
405013239	CV2953424	single nucleotide variant	NM_006567.5(FARS2):c.613-13T>C	Combined oxidative phosphorylation defect type 14 [RCV003649558]	likely benign	6	5404529	5404529	Human	1	name
405024373	CV2991185	single nucleotide variant	NM_006567.5(FARS2):c.613-15C>A	Combined oxidative phosphorylation defect type 14 [RCV003651219]	likely benign	6	5404527	5404527	Human	1	name
405032931	CV2997114	single nucleotide variant	NM_006567.5(FARS2):c.904+11A>T	Combined oxidative phosphorylation defect type 14 [RCV003652387]	likely benign	6	5431183	5431183	Human	1	name
405044780	CV3034483	single nucleotide variant	NM_006567.5(FARS2):c.1066-5G>T	Combined oxidative phosphorylation defect type 14 [RCV003654017]	likely benign	6	5613164	5613164	Human	1	name
405006719	CV3117541	single nucleotide variant	NM_006567.5(FARS2):c.613-18T>C	Combined oxidative phosphorylation defect type 14 [RCV003828596]	likely benign	6	5404524	5404524	Human	1	name
597953577	CV3776448	single nucleotide variant	NM_006567.5(FARS2):c.612+14T>A	Combined oxidative phosphorylation defect type 14 [RCV005121576]	likely benign	6	5369196	5369196	Human	1	name
597932028	CV3786114	single nucleotide variant	NM_006567.5(FARS2):c.613-11T>A	Combined oxidative phosphorylation defect type 14 [RCV005131822]	likely benign	6	5404531	5404531	Human	1	name
597940556	CV3836584	single nucleotide variant	NM_006567.5(FARS2):c.904+18A>G	Combined oxidative phosphorylation defect type 14 [RCV005187605]	likely benign	6	5431190	5431190	Human	1	name
597916060	CV3845719	single nucleotide variant	NM_006567.5(FARS2):c.772+17A>C	Combined oxidative phosphorylation defect type 14 [RCV005183514]	likely benign	6	5404718	5404718	Human	1	name
13827695	CV578617	single nucleotide variant	NM_006567.5(FARS2):c.613-11T>C	Combined oxidative phosphorylation defect type 14 [RCV000714921]	likely benign	6	5404531	5404531	Human	1	name
15108940	CV787546	single nucleotide variant	NM_006567.5(FARS2):c.905-10C>T	not provided [RCV000977133]	likely benign	6	5545170	5545170	Human		name
126758466	CV991635	single nucleotide variant	NM_006567.5(FARS2):c.1218-9T>A	Combined oxidative phosphorylation defect type 14 [RCV001299194]	likely benign\|uncertain significance	6	5771282	5771282	Human	1	name
127320856	CV1137782	single nucleotide variant	NM_006567.5(FARS2):c.1066-10G>A	Combined oxidative phosphorylation defect type 14 [RCV001484367]	likely benign	6	5613159	5613159	Human	1	name
150424297	CV1183859	single nucleotide variant	NM_006567.5(FARS2):c.-21-272C>T	not provided [RCV001556476]	likely benign	6	5368278	5368278	Human		name
150459187	CV1202890	single nucleotide variant	NM_006567.5(FARS2):c.1218-67C>A	not provided [RCV001586543]	likely benign	6	5771224	5771224	Human		name
150479033	CV1207769	single nucleotide variant	NM_006567.5(FARS2):c.904+142G>A	not provided [RCV001590045]	likely benign	6	5431314	5431314	Human		name
150460985	CV1231419	single nucleotide variant	NM_006567.5(FARS2):c.1065+81C>T	not provided [RCV001640984]\|not specified [RCV004598063]	benign	6	5545421	5545421	Human		name
150450641	CV1232703	single nucleotide variant	NM_006567.5(FARS2):c.612+245C>T	not provided [RCV001647778]	benign	6	5369427	5369427	Human		name
152131746	CV1521766	single nucleotide variant	NM_006567.5(FARS2):c.1066-19T>C	Combined oxidative phosphorylation defect type 14 [RCV002199419]	likely benign	6	5613150	5613150	Human	1	name
152133547	CV1545018	single nucleotide variant	NM_006567.5(FARS2):c.1066-12T>A	Combined oxidative phosphorylation defect type 14 [RCV002177123]	likely benign	6	5613157	5613157	Human	1	name
152148477	CV1569025	single nucleotide variant	NM_006567.5(FARS2):c.1065+14C>G	Combined oxidative phosphorylation defect type 14 [RCV002220420]	likely benign	6	5545354	5545354	Human	1	name
152058412	CV1652010	single nucleotide variant	NM_006567.5(FARS2):c.1066-13C>T	Combined oxidative phosphorylation defect type 14 [RCV002190239]	likely benign	6	5613156	5613156	Human	1	name
156391839	CV1995794	single nucleotide variant	NM_006567.5(FARS2):c.1066-12T>C	Combined oxidative phosphorylation defect type 14 [RCV002680842]	likely benign	6	5613157	5613157	Human	1	name
156014863	CV2061549	single nucleotide variant	NM_006567.5(FARS2):c.1066-15C>T	Combined oxidative phosphorylation defect type 14 [RCV002820321]	likely benign	6	5613154	5613154	Human	1	name
156360445	CV2184142	single nucleotide variant	NM_006567.5(FARS2):c.1066-17T>C	Combined oxidative phosphorylation defect type 14 [RCV003048987]	likely benign	6	5613152	5613152	Human	1	name
407455615	CV3415613	single nucleotide variant	NM_006567.5(FARS2):c.904+555A>G	not specified [RCV004598496]	benign	6	5431727	5431727	Human		name
13535429	CV502020	deletion	NM_006567.5(FARS2):c.1217+11del	not specified [RCV000602336]	likely benign	6	5613328	5613328	Human		name
13827704	CV578629	single nucleotide variant	NM_006567.5(FARS2):c.1066-15C>G	Combined oxidative phosphorylation defect type 14 [RCV000714932]	likely benign	6	5613154	5613154	Human	1	name
14741482	CV661810	single nucleotide variant	NM_006567.5(FARS2):c.612+261G>A	not provided [RCV000840803]	likely benign	6	5369443	5369443	Human		name
14740480	CV661812	single nucleotide variant	NM_006567.5(FARS2):c.904+166G>A	not provided [RCV000840365]	benign	6	5431338	5431338	Human		name
14740497	CV662178	single nucleotide variant	NM_006567.5(FARS2):c.612+323C>T	not provided [RCV000840372]	benign	6	5369505	5369505	Human		name
14724268	CV662183	single nucleotide variant	NM_006567.5(FARS2):c.772+133C>T	not provided [RCV000832906]	benign	6	5404834	5404834	Human		name
14741407	CV662263	single nucleotide variant	NM_006567.5(FARS2):c.613-315T>A	not provided [RCV000840772]	benign	6	5404227	5404227	Human		name
14740647	CV662266	single nucleotide variant	NM_006567.5(FARS2):c.613-188C>T	not provided [RCV000840434]	benign	6	5404354	5404354	Human		name
150425505	CV1183860	single nucleotide variant	NM_006567.5(FARS2):c.1066-225T>C	not provided [RCV001558079]	likely benign	6	5612944	5612944	Human		name
150511829	CV1242812	single nucleotide variant	NM_006567.5(FARS2):c.1066-295A>T	not provided [RCV001661165]	benign	6	5612874	5612874	Human		name
150445451	CV1278154	single nucleotide variant	NM_006567.5(FARS2):c.1065+282G>A	not provided [RCV001707297]	benign	6	5545622	5545622	Human		name
14740763	CV661830	single nucleotide variant	NM_006567.5(FARS2):c.1066-247G>A	not provided [RCV000840481]	benign	6	5612922	5612922	Human		name
14740499	CV662256	single nucleotide variant	NM_006567.5(FARS2):c.1065+243A>G	not provided [RCV000840373]	benign	6	5545583	5545583	Human		name
8581981	CV116433	single nucleotide variant	NM_006567.3(FARS2):c.-21-30418A>G	Lung cancer [RCV000096956]	uncertain significance	6	5338132	5338132	Human		name
401797324	CV2740931	single nucleotide variant	NM_006567.5(FARS2):c.1065+9040A>G	not provided [RCV003322095]	uncertain significance	6	5554380	5554380	Human		name
407455446	CV3415573	single nucleotide variant	NM_006567.5(FARS2):c.1217+6135A>G	not specified [RCV004598456]	benign	6	5619455	5619455	Human		name
407455569	CV3415601	single nucleotide variant	NM_006567.5(FARS2):c.904+14334C>T	not specified [RCV004598484]	benign	6	5445506	5445506	Human		name
127318946	CV1155443	single nucleotide variant	NM_006567.5(FARS2):c.1217+40158C>T	Combined oxidative phosphorylation defect type 14 [RCV001521885]	benign	6	5653478	5653478	Human	1	name
8582007	CV116459	single nucleotide variant	NM_006567.3(FARS2):c.1066-21092C>A	Lung cancer [RCV000096982]	uncertain significance	6	5592077	5592077	Human		name
8582017	CV116469	single nucleotide variant	NM_006567.3(FARS2):c.1217+59797G>A	Lung cancer [RCV000096992]	uncertain significance	6	5673117	5673117	Human		name
401797319	CV2740930	single nucleotide variant	NM_006567.5(FARS2):c.1217+75319G>C	not provided [RCV003322094]	uncertain significance	6	5688639	5688639	Human		name
401797329	CV2740932	single nucleotide variant	NM_006567.5(FARS2):c.1218-33495A>G	not provided [RCV003322096]	uncertain significance	6	5737796	5737796	Human		name
407455373	CV3415558	single nucleotide variant	NM_006567.5(FARS2):c.1217+37690T>C	not specified [RCV004598441]	benign	6	5651010	5651010	Human		name
38484487	CV945071	single nucleotide variant	NM_006567.5(FARS2):c.6G>A (p.Val2=)	Combined oxidative phosphorylation defect type 14 [RCV001236357]	likely benign\|uncertain significance	6	5368576	5368576	Human	1	name
127251136	CV1055617	single nucleotide variant	NM_006567.5(FARS2):c.3G>T (p.Met1Ile)	Combined oxidative phosphorylation defect type 14 [RCV001378498]	pathogenic\|likely pathogenic	6	5368573	5368573	Human	1	name
127265919	CV1073711	single nucleotide variant	NM_006567.5(FARS2):c.72C>T (p.Ser24=)	Combined oxidative phosphorylation defect type 14 [RCV001403710]	likely benign	6	5368642	5368642	Human	1	name
127282363	CV1095300	single nucleotide variant	NM_006567.5(FARS2):c.84G>A (p.Gln28=)	Combined oxidative phosphorylation defect type 14 [RCV001447764]	likely benign	6	5368654	5368654	Human	1	name
127249156	CV1095309	microsatellite	NM_006567.5(FARS2):c.1066-7_1066-3del	Combined oxidative phosphorylation defect type 14 [RCV001436035]	likely benign	6	5613157	5613161	Human		name
156034092	CV2059298	single nucleotide variant	NM_006567.5(FARS2):c.7G>A (p.Gly3Ser)	Combined oxidative phosphorylation defect type 14 [RCV002796177]	uncertain significance	6	5368577	5368577	Human	1	name
597964221	CV3792139	single nucleotide variant	NM_006567.5(FARS2):c.1A>G (p.Met1Val)	Combined oxidative phosphorylation defect type 14 [RCV005139696]	pathogenic	6	5368571	5368571	Human	1	name
26891443	CV832064	single nucleotide variant	NM_006567.5(FARS2):c.4G>T (p.Val2Leu)	Combined oxidative phosphorylation defect type 14 [RCV001068257]	uncertain significance	6	5368574	5368574	Human	1	name
38596840	CV963613	single nucleotide variant	NM_006567.5(FARS2):c.8G>T (p.Gly3Val)	Intellectual disability [RCV001252485]	likely benign	6	5368578	5368578	Human	2	name
127236861	CV1073712	single nucleotide variant	NM_006567.5(FARS2):c.150G>A (p.Val50=)	Combined oxidative phosphorylation defect type 14 [RCV001396980]	likely benign	6	5368720	5368720	Human	1	name
127263003	CV1095301	single nucleotide variant	NM_006567.5(FARS2):c.138T>C (p.Ala46=)	Combined oxidative phosphorylation defect type 14 [RCV001439185]	likely benign	6	5368708	5368708	Human	1	name
127248936	CV1095302	single nucleotide variant	NM_006567.5(FARS2):c.213C>T (p.Leu71=)	Combined oxidative phosphorylation defect type 14 [RCV001435989]\|FARS2-related disorder [RCV003973287]	likely benign	6	5368783	5368783	Human	1	name , trait , alternate_id
127312622	CV1137776	single nucleotide variant	NM_006567.5(FARS2):c.264G>A (p.Leu88=)	Combined oxidative phosphorylation defect type 14 [RCV001501971]	likely benign	6	5368834	5368834	Human	1	name
8691032	CV140991	single nucleotide variant	NM_006567.5(FARS2):c.102G>A (p.Ser34=)	Combined oxidative phosphorylation defect type 14 [RCV000551443]\|not specified [RCV000124979]	benign	6	5368672	5368672	Human	1	name
151887074	CV1496053	single nucleotide variant	NM_006567.5(FARS2):c.20G>A (p.Arg7Lys)	Combined oxidative phosphorylation defect type 14 [RCV001887691]	uncertain significance	6	5368590	5368590	Human	1	name
152162035	CV1543856	single nucleotide variant	NM_006567.5(FARS2):c.160C>T (p.Leu54=)	Combined oxidative phosphorylation defect type 14 [RCV002159810]	likely benign	6	5368730	5368730	Human	1	name
152047009	CV1561538	single nucleotide variant	NM_006567.5(FARS2):c.231C>T (p.Asn77=)	Combined oxidative phosphorylation defect type 14 [RCV002108459]	likely benign	6	5368801	5368801	Human	1	name
152093642	CV1570644	single nucleotide variant	NM_006567.5(FARS2):c.201C>G (p.Thr67=)	Combined oxidative phosphorylation defect type 14 [RCV002213067]	likely benign	6	5368771	5368771	Human	1	name
152167735	CV1577526	single nucleotide variant	NM_006567.5(FARS2):c.120G>A (p.Glu40=)	Combined oxidative phosphorylation defect type 14 [RCV002204787]	likely benign	6	5368690	5368690	Human	1	name
156347435	CV1995359	single nucleotide variant	NM_006567.5(FARS2):c.204G>C (p.Arg68=)	Combined oxidative phosphorylation defect type 14 [RCV002650644]	likely benign	6	5368774	5368774	Human	1	name
155970813	CV2062457	single nucleotide variant	NM_006567.5(FARS2):c.207G>A (p.Lys69=)	Combined oxidative phosphorylation defect type 14 [RCV002842068]\|not provided [RCV003886586]	likely benign	6	5368777	5368777	Human	1	name
156029998	CV2105470	single nucleotide variant	NM_006567.5(FARS2):c.126C>T (p.Ala42=)	Combined oxidative phosphorylation defect type 14 [RCV002910022]	likely benign	6	5368696	5368696	Human	1	name
156099409	CV2107167	single nucleotide variant	NM_006567.5(FARS2):c.141A>G (p.Pro47=)	Combined oxidative phosphorylation defect type 14 [RCV002926991]	likely benign	6	5368711	5368711	Human	1	name
11547208	CV252444	single nucleotide variant	NM_006567.5(FARS2):c.183C>T (p.Asp61=)	Combined oxidative phosphorylation defect type 14 [RCV000554418]\|not provided [RCV003422171]\|not specified [RCV000247463]	benign\|likely benign	6	5368753	5368753	Human	1	name
401918358	CV2822668	single nucleotide variant	NM_006567.5(FARS2):c.228G>A (p.Arg76=)	not provided [RCV003430083]	likely benign	6	5368798	5368798	Human		name
405087231	CV2857690	single nucleotide variant	NM_006567.5(FARS2):c.294C>T (p.Tyr98=)	Combined oxidative phosphorylation defect type 14 [RCV003536068]	likely benign	6	5368864	5368864	Human	1	name
405013147	CV2949534	single nucleotide variant	NM_006567.5(FARS2):c.234G>T (p.Leu78=)	Combined oxidative phosphorylation defect type 14 [RCV003649547]	likely benign	6	5368804	5368804	Human	1	name
405021510	CV2977130	single nucleotide variant	NM_006567.5(FARS2):c.262C>T (p.Leu88=)	Combined oxidative phosphorylation defect type 14 [RCV003650842]	likely benign	6	5368832	5368832	Human	1	name
405042330	CV3018839	single nucleotide variant	NM_006567.5(FARS2):c.11C>G (p.Ser4Ter)	Combined oxidative phosphorylation defect type 14 [RCV003653811]	pathogenic	6	5368581	5368581	Human	1	name
405214396	CV3143123	single nucleotide variant	NM_006567.5(FARS2):c.108T>C (p.Pro36=)	Combined oxidative phosphorylation defect type 14 [RCV003846286]	likely benign	6	5368678	5368678	Human	1	name
597963864	CV3754220	deletion	NM_006567.5(FARS2):c.63del (p.His22fs)	Combined oxidative phosphorylation defect type 14 [RCV005082327]	pathogenic	6	5368633	5368633	Human	1	name
13817647	CV565749	single nucleotide variant	NM_006567.5(FARS2):c.21G>T (p.Arg7Ser)	Combined oxidative phosphorylation defect type 14 [RCV000693164]\|not provided [RCV003144520]	likely benign\|uncertain significance	6	5368591	5368591	Human	1	name
15145993	CV692013	single nucleotide variant	NM_006567.5(FARS2):c.288C>T (p.His96=)	Combined oxidative phosphorylation defect type 14 [RCV000878474]\|not provided [RCV003424430]	benign\|likely benign	6	5368858	5368858	Human	1	name
38489588	CV924382	single nucleotide variant	NM_006567.5(FARS2):c.17T>C (p.Leu6Pro)	Combined oxidative phosphorylation defect type 14 [RCV001221769]	uncertain significance	6	5368587	5368587	Human	1	name
126760122	CV1006711	single nucleotide variant	NM_006567.5(FARS2):c.80A>G (p.His27Arg)	Combined oxidative phosphorylation defect type 14 [RCV001318251]\|Inborn genetic diseases [RCV002543746]	uncertain significance	6	5368650	5368650	Human	2	name
127268565	CV1073713	single nucleotide variant	NM_006567.5(FARS2):c.336C>T (p.Val112=)	Combined oxidative phosphorylation defect type 14 [RCV001404413]	likely benign	6	5368906	5368906	Human	1	name
127259322	CV1073714	single nucleotide variant	NM_006567.5(FARS2):c.444G>T (p.Arg148=)	Combined oxidative phosphorylation defect type 14 [RCV001419764]	likely benign	6	5369014	5369014	Human	1	name
127257902	CV1073715	single nucleotide variant	NM_006567.5(FARS2):c.450C>T (p.His150=)	Combined oxidative phosphorylation defect type 14 [RCV001401589]	likely benign	6	5369020	5369020	Human	1	name
127233770	CV1073716	single nucleotide variant	NM_006567.5(FARS2):c.495C>T (p.His165=)	Combined oxidative phosphorylation defect type 14 [RCV001396261]	likely benign	6	5369065	5369065	Human	1	name
127237215	CV1073717	single nucleotide variant	NM_006567.5(FARS2):c.549C>T (p.Ile183=)	Combined oxidative phosphorylation defect type 14 [RCV001414856]	likely benign	6	5369119	5369119	Human	1	name
127263234	CV1073718	single nucleotide variant	NM_006567.5(FARS2):c.906T>G (p.Ala302=)	Combined oxidative phosphorylation defect type 14 [RCV001402945]	likely benign	6	5545181	5545181	Human	1	name
127272892	CV1095303	single nucleotide variant	NM_006567.5(FARS2):c.378T>C (p.Phe126=)	Combined oxidative phosphorylation defect type 14 [RCV001442360]	likely benign	6	5368948	5368948	Human	1	name
127241760	CV1095304	single nucleotide variant	NM_006567.5(FARS2):c.672T>C (p.Ser224=)	Combined oxidative phosphorylation defect type 14 [RCV001423615]	likely benign	6	5404601	5404601	Human	1	name
127276329	CV1095306	single nucleotide variant	NM_006567.5(FARS2):c.924C>T (p.Ile308=)	Combined oxidative phosphorylation defect type 14 [RCV001443765]	likely benign	6	5545199	5545199	Human	1	name
127274966	CV1095307	single nucleotide variant	NM_006567.5(FARS2):c.954G>A (p.Arg318=)	Combined oxidative phosphorylation defect type 14 [RCV001443106]	likely benign	6	5545229	5545229	Human	1	name
127271468	CV1095308	single nucleotide variant	NM_006567.5(FARS2):c.972C>T (p.Tyr324=)	Combined oxidative phosphorylation defect type 14 [RCV001430971]	likely benign	6	5545247	5545247	Human	1	name
127328460	CV1116859	single nucleotide variant	NM_006567.5(FARS2):c.774G>A (p.Glu258=)	Combined oxidative phosphorylation defect type 14 [RCV001469550]	likely benign	6	5431042	5431042	Human	1	name
127322457	CV1116860	single nucleotide variant	NM_006567.5(FARS2):c.837C>T (p.Ile279=)	Combined oxidative phosphorylation defect type 14 [RCV001467591]	likely benign	6	5431105	5431105	Human	1	name
127335516	CV1116861	single nucleotide variant	NM_006567.5(FARS2):c.957A>G (p.Leu319=)	Combined oxidative phosphorylation defect type 14 [RCV001474341]	likely benign	6	5545232	5545232	Human	1	name
127311468	CV1116862	single nucleotide variant	NM_006567.5(FARS2):c.993C>G (p.Leu331=)	Combined oxidative phosphorylation defect type 14 [RCV001456905]	likely benign	6	5545268	5545268	Human	1	name
127336640	CV1137777	single nucleotide variant	NM_006567.5(FARS2):c.318G>A (p.Gly106=)	Combined oxidative phosphorylation defect type 14 [RCV001492326]\|not provided [RCV005256810]	likely benign	6	5368888	5368888	Human	1	name
127295247	CV1137778	single nucleotide variant	NM_006567.5(FARS2):c.696C>T (p.Thr232=)	Combined oxidative phosphorylation defect type 14 [RCV001497220]	likely benign	6	5404625	5404625	Human	1	name
127329028	CV1137779	single nucleotide variant	NM_006567.5(FARS2):c.775C>T (p.Leu259=)	Combined oxidative phosphorylation defect type 14 [RCV001487169]	likely benign	6	5431043	5431043	Human	1	name
151783113	CV1383629	single nucleotide variant	NM_006567.5(FARS2):c.94T>A (p.Trp32Arg)	Combined oxidative phosphorylation defect type 14 [RCV001865147]	uncertain significance	6	5368664	5368664	Human	1	name
151830252	CV1384402	single nucleotide variant	NM_006567.5(FARS2):c.955C>T (p.Leu319=)	Combined oxidative phosphorylation defect type 14 [RCV001955610]\|not provided [RCV003490963]	likely benign\|uncertain significance	6	5545230	5545230	Human	1	name
8691033	CV140992	single nucleotide variant	NM_006567.5(FARS2):c.339C>T (p.Tyr113=)	Combined oxidative phosphorylation defect type 14 [RCV000532862]\|not provided [RCV000677018]\|not specified [RCV000124980]	benign	6	5368909	5368909	Human	1	name
8691034	CV140993	single nucleotide variant	NM_006567.5(FARS2):c.606G>A (p.Lys202=)	Combined oxidative phosphorylation defect type 14 [RCV000560762]\|not provided [RCV001171979]\|not specified [RCV000124981]	benign\|likely benign	6	5369176	5369176	Human	1	name
151824629	CV1466464	single nucleotide variant	NM_006567.5(FARS2):c.28G>A (p.Ala10Thr)	Combined oxidative phosphorylation defect type 14 [RCV001879541]	uncertain significance	6	5368598	5368598	Human	1	name
151879922	CV1488581	single nucleotide variant	NM_006567.5(FARS2):c.91G>A (p.Ala31Thr)	Combined oxidative phosphorylation defect type 14 [RCV001999401]	uncertain significance	6	5368661	5368661	Human	1	name
151735497	CV1508855	single nucleotide variant	NM_006567.5(FARS2):c.86A>G (p.His29Arg)	Combined oxidative phosphorylation defect type 14 [RCV002021762]	uncertain significance	6	5368656	5368656	Human	1	name
152073856	CV1520793	single nucleotide variant	NM_006567.5(FARS2):c.858G>A (p.Leu286=)	Combined oxidative phosphorylation defect type 14 [RCV002075463]	likely benign	6	5431126	5431126	Human	1	name
152142174	CV1526630	single nucleotide variant	NM_006567.5(FARS2):c.312C>A (p.Arg104=)	Combined oxidative phosphorylation defect type 14 [RCV002084304]	likely benign	6	5368882	5368882	Human	1	name
152143386	CV1526833	single nucleotide variant	NM_006567.5(FARS2):c.705C>T (p.Ala235=)	Combined oxidative phosphorylation defect type 14 [RCV002084462]	likely benign	6	5404634	5404634	Human	1	name
152161223	CV1534686	single nucleotide variant	NM_006567.5(FARS2):c.894G>A (p.Leu298=)	Combined oxidative phosphorylation defect type 14 [RCV002140954]	likely benign	6	5431162	5431162	Human	1	name
152158821	CV1542102	single nucleotide variant	NM_006567.5(FARS2):c.621T>G (p.Ala207=)	Combined oxidative phosphorylation defect type 14 [RCV002103400]	likely benign	6	5404550	5404550	Human	1	name
152126255	CV1565790	single nucleotide variant	NM_006567.5(FARS2):c.372G>A (p.Gln124=)	Combined oxidative phosphorylation defect type 14 [RCV002136356]	likely benign	6	5368942	5368942	Human	1	name
152033813	CV1573067	single nucleotide variant	NM_006567.5(FARS2):c.408C>T (p.Pro136=)	Combined oxidative phosphorylation defect type 14 [RCV002187156]	likely benign	6	5368978	5368978	Human	1	name
152086215	CV1589722	single nucleotide variant	NM_006567.5(FARS2):c.933T>C (p.Ala311=)	Combined oxidative phosphorylation defect type 14 [RCV002193671]	likely benign	6	5545208	5545208	Human	1	name
152171832	CV1597826	single nucleotide variant	NM_006567.5(FARS2):c.600C>T (p.Phe200=)	Combined oxidative phosphorylation defect type 14 [RCV002162249]	likely benign	6	5369170	5369170	Human	1	name
152042085	CV1603360	single nucleotide variant	NM_006567.5(FARS2):c.735A>G (p.Gln245=)	Combined oxidative phosphorylation defect type 14 [RCV002071152]	likely benign	6	5404664	5404664	Human	1	name
152161230	CV1606125	deletion	NM_006567.5(FARS2):c.1066-12_1066-11del	Combined oxidative phosphorylation defect type 14 [RCV002180969]	likely benign	6	5613157	5613158	Human	1	name
152156352	CV1615759	single nucleotide variant	NM_006567.5(FARS2):c.342C>T (p.Asp114=)	Combined oxidative phosphorylation defect type 14 [RCV002158905]	likely benign	6	5368912	5368912	Human	1	name
152150260	CV1625722	single nucleotide variant	NM_006567.5(FARS2):c.462G>A (p.Ala154=)	Combined oxidative phosphorylation defect type 14 [RCV002139408]\|FARS2-related disorder [RCV003958792]	benign\|likely benign	6	5369032	5369032	Human	1	name , trait , alternate_id
152032237	CV1643035	single nucleotide variant	NM_006567.5(FARS2):c.375C>T (p.Asn125=)	Combined oxidative phosphorylation defect type 14 [RCV002204929]	likely benign	6	5368945	5368945	Human	1	name
152052982	CV1659234	single nucleotide variant	NM_006567.5(FARS2):c.492G>A (p.Leu164=)	Combined oxidative phosphorylation defect type 14 [RCV002189636]	likely benign	6	5369062	5369062	Human	1	name
152174829	CV1663533	single nucleotide variant	NM_006567.5(FARS2):c.852A>G (p.Glu284=)	Combined oxidative phosphorylation defect type 14 [RCV002144568]	likely benign	6	5431120	5431120	Human	1	name
152103132	CV1667388	single nucleotide variant	NM_006567.5(FARS2):c.396A>G (p.Pro132=)	not provided [RCV002214375]	likely benign	6	5368966	5368966	Human		name
156415054	CV1983157	single nucleotide variant	NM_006567.5(FARS2):c.936T>C (p.Phe312=)	Combined oxidative phosphorylation defect type 14 [RCV002609490]	likely benign	6	5545211	5545211	Human	1	name
156112560	CV1988867	single nucleotide variant	NM_006567.5(FARS2):c.876G>A (p.Gly292=)	Combined oxidative phosphorylation defect type 14 [RCV002622637]	likely benign	6	5431144	5431144	Human	1	name
156226033	CV1991524	single nucleotide variant	NM_006567.5(FARS2):c.327G>A (p.Leu109=)	Combined oxidative phosphorylation defect type 14 [RCV002626620]	likely benign	6	5368897	5368897	Human	1	name
156352369	CV2015367	single nucleotide variant	NM_006567.5(FARS2):c.300G>A (p.Gln100=)	Combined oxidative phosphorylation defect type 14 [RCV002720276]	likely benign	6	5368870	5368870	Human	1	name
156198149	CV2092370	single nucleotide variant	NM_006567.5(FARS2):c.750C>T (p.Leu250=)	Combined oxidative phosphorylation defect type 14 [RCV002917690]	likely benign	6	5404679	5404679	Human	1	name
156015195	CV2120496	single nucleotide variant	NM_006567.5(FARS2):c.738G>A (p.Thr246=)	Combined oxidative phosphorylation defect type 14 [RCV002975864]	likely benign	6	5404667	5404667	Human	1	name
156211447	CV2127762	single nucleotide variant	NM_006567.5(FARS2):c.498G>A (p.Ala166=)	Combined oxidative phosphorylation defect type 14 [RCV002957761]\|not provided [RCV004809874]	likely benign	6	5369068	5369068	Human	1	name
156046380	CV2144142	single nucleotide variant	NM_006567.5(FARS2):c.474A>T (p.Ala158=)	Combined oxidative phosphorylation defect type 14 [RCV002999718]	likely benign	6	5369044	5369044	Human	1	name
405013881	CV2958739	single nucleotide variant	NM_006567.5(FARS2):c.528T>C (p.Asp176=)	Combined oxidative phosphorylation defect type 14 [RCV003649605]	likely benign	6	5369098	5369098	Human	1	name
405014277	CV2970510	single nucleotide variant	NM_006567.5(FARS2):c.513C>T (p.Phe171=)	Combined oxidative phosphorylation defect type 14 [RCV003649648]	likely benign	6	5369083	5369083	Human	1	name
405014537	CV2974326	single nucleotide variant	NM_006567.5(FARS2):c.804C>T (p.Phe268=)	Combined oxidative phosphorylation defect type 14 [RCV003649675]	likely benign	6	5431072	5431072	Human	1	name
405022000	CV2980943	single nucleotide variant	NM_006567.5(FARS2):c.768A>G (p.Gly256=)	Combined oxidative phosphorylation defect type 14 [RCV003650874]	likely benign	6	5404697	5404697	Human	1	name
405035567	CV3006410	single nucleotide variant	NM_006567.5(FARS2):c.597C>G (p.Leu199=)	Combined oxidative phosphorylation defect type 14 [RCV003652670]	likely benign	6	5369167	5369167	Human	1	name
405018809	CV3052007	single nucleotide variant	NM_006567.5(FARS2):c.726T>C (p.Asp242=)	Combined oxidative phosphorylation defect type 14 [RCV003650176]	likely benign	6	5404655	5404655	Human	1	name
405025800	CV3060302	single nucleotide variant	NM_006567.5(FARS2):c.651C>G (p.Leu217=)	Combined oxidative phosphorylation defect type 14 [RCV003651356]	likely benign	6	5404580	5404580	Human	1	name
405037525	CV3070778	single nucleotide variant	NM_006567.5(FARS2):c.555C>T (p.Ser185=)	Combined oxidative phosphorylation defect type 14 [RCV003652830]	likely benign	6	5369125	5369125	Human	1	name
405040207	CV3075262	single nucleotide variant	NM_006567.5(FARS2):c.846T>C (p.His282=)	Combined oxidative phosphorylation defect type 14 [RCV003653125]	likely benign	6	5431114	5431114	Human	1	name
405153860	CV3163047	single nucleotide variant	NM_006567.5(FARS2):c.486C>T (p.Asp162=)	Combined oxidative phosphorylation defect type 14 [RCV003856490]	likely benign	6	5369056	5369056	Human	1	name
405202273	CV3165058	single nucleotide variant	NM_006567.5(FARS2):c.333G>C (p.Ser111=)	Combined oxidative phosphorylation defect type 14 [RCV003860919]	likely benign	6	5368903	5368903	Human	1	name
597652340	CV3672130	single nucleotide variant	NM_006567.5(FARS2):c.88C>A (p.Gln30Lys)	Inborn genetic diseases [RCV004974861]	uncertain significance	6	5368658	5368658	Human	1	name
12842052	CV368681	single nucleotide variant	NM_006567.5(FARS2):c.462G>T (p.Ala154=)	Combined oxidative phosphorylation defect type 14 [RCV000714918]\|FARS2-related disorder [RCV003932585]\|not provided [RCV001200284]\|not specified [RCV000433710]	benign\|likely benign	6	5369032	5369032	Human	1	name , trait , alternate_id
12841688	CV368687	single nucleotide variant	NM_006567.5(FARS2):c.519G>C (p.Val173=)	Combined oxidative phosphorylation defect type 14 [RCV002524764]\|not specified [RCV000433013]	benign\|likely benign	6	5369089	5369089	Human	1	name
12836060	CV368988	single nucleotide variant	NM_006567.5(FARS2):c.468G>A (p.Thr156=)	Combined oxidative phosphorylation defect type 14 [RCV000531369]\|not provided [RCV005230320]\|not specified [RCV000422752]	benign	6	5369038	5369038	Human	1	name
12835123	CV369157	single nucleotide variant	NM_006567.5(FARS2):c.324G>A (p.Pro108=)	Combined oxidative phosphorylation defect type 14 [RCV000650600]\|not provided [RCV001720242]	likely benign	6	5368894	5368894	Human	1	name
12840802	CV370501	single nucleotide variant	NM_006567.5(FARS2):c.945A>G (p.Gly315=)	Combined oxidative phosphorylation defect type 14 [RCV000808579]\|not specified [RCV000431399]	likely benign\|uncertain significance	6	5545220	5545220	Human	1	name
597957451	CV3755079	single nucleotide variant	NM_006567.5(FARS2):c.570T>C (p.Ile190=)	Combined oxidative phosphorylation defect type 14 [RCV005080749]	likely benign	6	5369140	5369140	Human	1	name
597965801	CV3793852	single nucleotide variant	NM_006567.5(FARS2):c.891A>G (p.Gln297=)	Combined oxidative phosphorylation defect type 14 [RCV005140234]	likely benign	6	5431159	5431159	Human	1	name
597863073	CV3813579	single nucleotide variant	NM_006567.5(FARS2):c.387G>A (p.Leu129=)	Combined oxidative phosphorylation defect type 14 [RCV005146841]	likely benign	6	5368957	5368957	Human	1	name
597941103	CV3819196	single nucleotide variant	NM_006567.5(FARS2):c.798C>T (p.Cys266=)	Combined oxidative phosphorylation defect type 14 [RCV005159007]	likely benign	6	5431066	5431066	Human	1	name
597976356	CV3829574	single nucleotide variant	NM_006567.5(FARS2):c.363G>A (p.Thr121=)	Combined oxidative phosphorylation defect type 14 [RCV005169841]	likely benign	6	5368933	5368933	Human	1	name
598219217	CV3895623	duplication	NM_006567.5(FARS2):c.247dup (p.His83fs)	Leigh syndrome [RCV005360468]	likely pathogenic	6	5368816	5368817	Human	1	name
13464599	CV455856	single nucleotide variant	NM_006567.5(FARS2):c.750C>A (p.Leu250=)	Combined oxidative phosphorylation defect type 14 [RCV000542297]	likely benign	6	5404679	5404679	Human	1	name
13527020	CV501381	single nucleotide variant	NM_006567.5(FARS2):c.354A>G (p.Pro118=)	Combined oxidative phosphorylation defect type 14 [RCV000714915]\|not specified [RCV000604903]	likely benign	6	5368924	5368924	Human	1	name
13538278	CV501770	single nucleotide variant	NM_006567.5(FARS2):c.873C>T (p.Cys291=)	Combined oxidative phosphorylation defect type 14 [RCV000714928]\|FARS2-related disorder [RCV003935707]\|not specified [RCV000611599]	benign\|likely benign	6	5431141	5431141	Human	1	name , trait , alternate_id
13827688	CV578606	single nucleotide variant	NM_006567.5(FARS2):c.28G>T (p.Ala10Ser)	Combined oxidative phosphorylation defect type 14 [RCV000714912]	uncertain significance	6	5368598	5368598	Human	1	name
13827691	CV578610	single nucleotide variant	NM_006567.5(FARS2):c.390C>A (p.Leu130=)	Combined oxidative phosphorylation defect type 14 [RCV000714916]\|FARS2-related disorder [RCV003938057]	likely benign	6	5368960	5368960	Human	1	name , trait , alternate_id
13827694	CV578616	single nucleotide variant	NM_006567.5(FARS2):c.585G>A (p.Glu195=)	Combined oxidative phosphorylation defect type 14 [RCV000714920]	uncertain significance	6	5369155	5369155	Human	1	name
13827699	CV578621	single nucleotide variant	NM_006567.5(FARS2):c.768A>C (p.Gly256=)	Combined oxidative phosphorylation defect type 14 [RCV000714925]	benign\|likely benign	6	5404697	5404697	Human	1	name
13827700	CV578622	single nucleotide variant	NM_006567.5(FARS2):c.819T>A (p.Pro273=)	Combined oxidative phosphorylation defect type 14 [RCV000714926]	benign\|likely benign	6	5431087	5431087	Human	1	name
13827701	CV578625	single nucleotide variant	NM_006567.5(FARS2):c.984T>C (p.Asp328=)	Combined oxidative phosphorylation defect type 14 [RCV000714929]\|FARS2-related disorder [RCV003953262]	likely benign	6	5545259	5545259	Human	1	name , trait , alternate_id
15155542	CV710563	single nucleotide variant	NM_006567.5(FARS2):c.675G>A (p.Ala225=)	Combined oxidative phosphorylation defect type 14 [RCV000968943]\|Inborn genetic diseases [RCV005338482]	likely benign	6	5404604	5404604	Human	2	name
15186067	CV722073	single nucleotide variant	NM_006567.5(FARS2):c.588C>T (p.Ala196=)	Combined oxidative phosphorylation defect type 14 [RCV000886872]\|not provided [RCV001815489]	likely benign	6	5369158	5369158	Human	1	name
15164925	CV750123	single nucleotide variant	NM_006567.5(FARS2):c.909T>G (p.Gly303=)	not provided [RCV000926500]	likely benign	6	5545184	5545184	Human		name
15098394	CV765744	single nucleotide variant	NM_006567.5(FARS2):c.546G>A (p.Gln182=)	Combined oxidative phosphorylation defect type 14 [RCV001492321]	likely benign	6	5369116	5369116	Human	1	name
26886664	CV832065	single nucleotide variant	NM_006567.5(FARS2):c.68T>A (p.Ile23Asn)	Combined oxidative phosphorylation defect type 14 [RCV001044374]	uncertain significance	6	5368638	5368638	Human	1	name
38489742	CV933365	single nucleotide variant	NM_006567.5(FARS2):c.70T>A (p.Ser24Thr)	Combined oxidative phosphorylation defect type 14 [RCV001210330]	uncertain significance	6	5368640	5368640	Human	1	name
38478053	CV933367	single nucleotide variant	NM_006567.5(FARS2):c.333G>A (p.Ser111=)	Combined oxidative phosphorylation defect type 14 [RCV001205371]	likely benign\|uncertain significance	6	5368903	5368903	Human	1	name
38475308	CV933369	single nucleotide variant	NM_006567.5(FARS2):c.786A>G (p.Arg262=)	Combined oxidative phosphorylation defect type 14 [RCV001204059]	likely benign\|uncertain significance	6	5431054	5431054	Human	1	name
126763410	CV991563	single nucleotide variant	NM_006567.5(FARS2):c.771T>C (p.Asp257=)	Combined oxidative phosphorylation defect type 14 [RCV001300688]	uncertain significance	6	5404700	5404700	Human	1	name
126767904	CV1006712	single nucleotide variant	NM_006567.5(FARS2):c.183C>G (p.Asp61Glu)	Combined oxidative phosphorylation defect type 14 [RCV001321048]	uncertain significance	6	5368753	5368753	Human	1	name
126912633	CV1044191	single nucleotide variant	NM_006567.5(FARS2):c.139C>T (p.Pro47Ser)	Combined oxidative phosphorylation defect type 14 [RCV001358890]\|Inborn genetic diseases [RCV004034512]	uncertain significance	6	5368709	5368709	Human	2	name
126924056	CV1044192	single nucleotide variant	NM_006567.5(FARS2):c.172T>C (p.Tyr58His)	Combined oxidative phosphorylation defect type 14 [RCV001366580]	uncertain significance	6	5368742	5368742	Human	1	name
127258956	CV1073719	single nucleotide variant	NM_006567.5(FARS2):c.1044T>C (p.Ile348=)	Combined oxidative phosphorylation defect type 14 [RCV001419654]	likely benign	6	5545319	5545319	Human	1	name
127278108	CV1073807	single nucleotide variant	NM_006567.5(FARS2):c.1251G>A (p.Thr417=)	Combined oxidative phosphorylation defect type 14 [RCV001408282]	likely benign	6	5771324	5771324	Human	1	name
127270893	CV1095391	single nucleotide variant	NM_006567.5(FARS2):c.1230C>T (p.Thr410=)	Combined oxidative phosphorylation defect type 14 [RCV001430763]	likely benign	6	5771303	5771303	Human	1	name
127300617	CV1116863	single nucleotide variant	NM_006567.5(FARS2):c.1041C>T (p.Asn347=)	Combined oxidative phosphorylation defect type 14 [RCV001478449]	likely benign	6	5545316	5545316	Human	1	name
127315227	CV1116864	single nucleotide variant	NM_006567.5(FARS2):c.1116C>T (p.Pro372=)	Combined oxidative phosphorylation defect type 14 [RCV001465168]	likely benign	6	5613219	5613219	Human	1	name
127291237	CV1116948	single nucleotide variant	NM_006567.5(FARS2):c.1221G>A (p.Thr407=)	Combined oxidative phosphorylation defect type 14 [RCV001458658]	likely benign	6	5771294	5771294	Human	1	name
127290514	CV1137781	single nucleotide variant	NM_006567.5(FARS2):c.1011G>A (p.Glu337=)	Combined oxidative phosphorylation defect type 14 [RCV001495996]	likely benign	6	5545286	5545286	Human	1	name
151724971	CV1351030	single nucleotide variant	NM_006567.5(FARS2):c.131A>G (p.Gln44Arg)	Combined oxidative phosphorylation defect type 14 [RCV001891602]	uncertain significance	6	5368701	5368701	Human	1	name
151826058	CV1392201	deletion	NM_006567.5(FARS2):c.425del (p.Asp142fs)	Combined oxidative phosphorylation defect type 14 [RCV001879665]	pathogenic	6	5368995	5368995	Human	1	name
151751619	CV1407036	single nucleotide variant	NM_006567.5(FARS2):c.184G>T (p.Asp62Tyr)	Combined oxidative phosphorylation defect type 14 [RCV002023434]	uncertain significance	6	5368754	5368754	Human	1	name
151841709	CV1423811	single nucleotide variant	NM_006567.5(FARS2):c.146G>A (p.Ser49Asn)	Combined oxidative phosphorylation defect type 14 [RCV001977776]	uncertain significance	6	5368716	5368716	Human	1	name
151840552	CV1432087	deletion	NM_006567.5(FARS2):c.694del (p.Thr232fs)	Combined oxidative phosphorylation defect type 14 [RCV001994687]	pathogenic	6	5404623	5404623	Human	1	name
151724485	CV1455461	single nucleotide variant	NM_006567.5(FARS2):c.259T>G (p.Trp87Gly)	Combined oxidative phosphorylation defect type 14 [RCV002020609]	uncertain significance	6	5368829	5368829	Human	1	name
151873011	CV1499362	single nucleotide variant	NM_006567.5(FARS2):c.184G>A (p.Asp62Asn)	Combined oxidative phosphorylation defect type 14 [RCV001885513]	uncertain significance	6	5368754	5368754	Human	1	name
151744935	CV1501600	single nucleotide variant	NM_006567.5(FARS2):c.297G>T (p.Lys99Asn)	Combined oxidative phosphorylation defect type 14 [RCV002042626]	uncertain significance	6	5368867	5368867	Human	1	name
151888483	CV1517133	single nucleotide variant	NM_006567.5(FARS2):c.224G>T (p.Gly75Val)	Combined oxidative phosphorylation defect type 14 [RCV002038410]	uncertain significance	6	5368794	5368794	Human	1	name
152126071	CV1620429	single nucleotide variant	NM_006567.5(FARS2):c.1200C>T (p.Asp400=)	Combined oxidative phosphorylation defect type 14 [RCV002098839]	likely benign	6	5613303	5613303	Human	1	name
152123667	CV1641160	single nucleotide variant	NM_006567.5(FARS2):c.1293G>A (p.Arg431=)	Combined oxidative phosphorylation defect type 14 [RCV002098509]	likely benign	6	5771366	5771366	Human	1	name
155709136	CV1773374	single nucleotide variant	NM_006567.5(FARS2):c.296A>G (p.Lys99Arg)	Combined oxidative phosphorylation defect type 14 [RCV002297086]	uncertain significance	6	5368866	5368866	Human	1	name
156026102	CV1918762	single nucleotide variant	NM_006567.5(FARS2):c.261G>C (p.Trp87Cys)	Combined oxidative phosphorylation defect type 14 [RCV002636951]	uncertain significance	6	5368831	5368831	Human	1	name
155964018	CV1931810	single nucleotide variant	NM_006567.5(FARS2):c.284A>G (p.Glu95Gly)	Combined oxidative phosphorylation defect type 14 [RCV002616869]	uncertain significance	6	5368854	5368854	Human	1	name
156336423	CV1997206	single nucleotide variant	NM_006567.5(FARS2):c.206A>G (p.Lys69Arg)	Combined oxidative phosphorylation defect type 14 [RCV002650094]\|Inborn genetic diseases [RCV005343451]	uncertain significance	6	5368776	5368776	Human	2	name
156306921	CV1999880	single nucleotide variant	NM_006567.5(FARS2):c.113C>A (p.Ala38Glu)	Combined oxidative phosphorylation defect type 14 [RCV002671426]	uncertain significance	6	5368683	5368683	Human	1	name
156349604	CV2001117	single nucleotide variant	NM_006567.5(FARS2):c.1218G>A (p.Lys406=)	Combined oxidative phosphorylation defect type 14 [RCV002675497]	uncertain significance	6	5771291	5771291	Human	1	name
156172540	CV2016209	single nucleotide variant	NM_006567.5(FARS2):c.125C>T (p.Ala42Val)	Combined oxidative phosphorylation defect type 14 [RCV002710525]	uncertain significance	6	5368695	5368695	Human	1	name
156135458	CV2022926	single nucleotide variant	NM_006567.5(FARS2):c.1092C>T (p.Ile364=)	Combined oxidative phosphorylation defect type 14 [RCV002740713]	likely benign	6	5613195	5613195	Human	1	name
10411168	CV211247	single nucleotide variant	NM_006567.5(FARS2):c.101C>T (p.Ser34Leu)	Combined oxidative phosphorylation defect type 14 [RCV000541416]\|not provided [RCV003480548]	likely benign\|uncertain significance	6	5368671	5368671	Human	1	name
10409436	CV211248	single nucleotide variant	NM_006567.5(FARS2):c.170C>G (p.Ser57Cys)	Combined oxidative phosphorylation defect type 14 [RCV000539812]\|not provided [RCV004705026]\|not specified [RCV000196113]	benign\|likely benign	6	5368740	5368740	Human	1	name
156196199	CV2113687	single nucleotide variant	NM_006567.5(FARS2):c.151G>C (p.Val51Leu)	Combined oxidative phosphorylation defect type 14 [RCV002957220]	uncertain significance	6	5368721	5368721	Human	1	name
156026447	CV2145719	duplication	NM_006567.5(FARS2):c.497dup (p.Leu168fs)	Combined oxidative phosphorylation defect type 14 [RCV003018482]	pathogenic	6	5369066	5369067	Human	1	name
156360015	CV2162424	single nucleotide variant	NM_006567.5(FARS2):c.178C>T (p.Gln60Ter)	Combined oxidative phosphorylation defect type 14 [RCV003031498]	pathogenic	6	5368748	5368748	Human	1	name
401796921	CV2739922	single nucleotide variant	NM_006567.5(FARS2):c.187C>A (p.His63Asn)	not provided [RCV003319883]	uncertain significance	6	5368757	5368757	Human		name
405148882	CV2933442	indel	NM_006567.5(FARS2):c.1218-73_1289delinsC	Combined oxidative phosphorylation defect type 14 [RCV003538295]	pathogenic	6	5771218	5771362	Human		name
405036085	CV3013609	single nucleotide variant	NM_006567.5(FARS2):c.1267C>A (p.Arg423=)	Combined oxidative phosphorylation defect type 14 [RCV003652728]	likely benign	6	5771340	5771340	Human	1	name
597652334	CV3672129	single nucleotide variant	NM_006567.5(FARS2):c.106C>T (p.Pro36Ser)	Inborn genetic diseases [RCV004974860]	uncertain significance	6	5368676	5368676	Human	1	name
12835822	CV369007	single nucleotide variant	NM_006567.5(FARS2):c.1344G>A (p.Glu448=)	Combined oxidative phosphorylation defect type 14 [RCV000714937]\|not specified [RCV000422351]	likely benign	6	5771417	5771417	Human	1	name
12843849	CV370502	single nucleotide variant	NM_006567.5(FARS2):c.1059G>A (p.Lys353=)	not specified [RCV000436965]	likely benign	6	5545334	5545334	Human		name
597896556	CV3782255	single nucleotide variant	NM_006567.5(FARS2):c.1355G>A (p.Ter452=)	Combined oxidative phosphorylation defect type 14 [RCV005126480]	likely benign	6	5771428	5771428	Human	1	name
597939818	CV3788634	single nucleotide variant	NM_006567.5(FARS2):c.1251G>C (p.Thr417=)	Combined oxidative phosphorylation defect type 14 [RCV005133309]	likely benign	6	5771324	5771324	Human	1	name
597973740	CV3801557	single nucleotide variant	NM_006567.5(FARS2):c.1341G>A (p.Val447=)	Combined oxidative phosphorylation defect type 14 [RCV005143546]	likely benign	6	5771414	5771414	Human	1	name
597909839	CV3806508	single nucleotide variant	NM_006567.5(FARS2):c.167A>T (p.Lys56Ile)	Combined oxidative phosphorylation defect type 14 [RCV005154075]	uncertain significance	6	5368737	5368737	Human	1	name
13482667	CV455894	single nucleotide variant	NM_006567.5(FARS2):c.1308C>G (p.Ala436=)	Combined oxidative phosphorylation defect type 14 [RCV000529517]\|not provided [RCV001530767]	likely benign	6	5771381	5771381	Human	1	name
13499576	CV456590	single nucleotide variant	NM_006567.5(FARS2):c.1209A>G (p.Val403=)	Combined oxidative phosphorylation defect type 14 [RCV000539910]	likely benign	6	5613312	5613312	Human	1	name
13508719	CV481383	single nucleotide variant	NM_006567.5(FARS2):c.192C>G (p.Ser64Arg)	Combined oxidative phosphorylation defect type 14 [RCV000578287]	likely pathogenic	6	5368762	5368762	Human	1	name
13541394	CV501674	single nucleotide variant	NM_006567.5(FARS2):c.1128C>T (p.Tyr376=)	Combined oxidative phosphorylation defect type 14 [RCV000877860]\|not provided [RCV001722604]	likely benign	6	5613231	5613231	Human	1	name
13812004	CV560904	deletion	NM_006567.5(FARS2):c.792del (p.Asp265fs)	Combined oxidative phosphorylation defect type 14 [RCV000703415]\|FARS2-related disorder [RCV004547874]\|Hereditary spastic paraplegia 77 [RCV003994089]\|Inborn genetic diseases [RCV002534412]\|Leigh syndrome [RCV005357940]\|not provided [RCV001009136]	pathogenic\|likely pathogenic\|uncertain significance	6	5431060	5431060	Human	4	name , trait , alternate_id
13827709	CV578607	single nucleotide variant	NM_006567.5(FARS2):c.253C>G (p.Pro85Ala)	Combined oxidative phosphorylation defect type 14 [RCV000714938]	likely pathogenic\|conflicting interpretations of pathogenicity	6	5368823	5368823	Human	1	name
13827702	CV578626	single nucleotide variant	NM_006567.5(FARS2):c.1014C>T (p.Arg338=)	Combined oxidative phosphorylation defect type 14 [RCV000714930]\|FARS2-related disorder [RCV003918155]	benign\|likely benign	6	5545289	5545289	Human	1	name , trait , alternate_id
13827705	CV578630	single nucleotide variant	NM_006567.5(FARS2):c.1083G>A (p.Pro361=)	Combined oxidative phosphorylation defect type 14 [RCV000714933]	likely benign	6	5613186	5613186	Human	1	name
13827708	CV578634	single nucleotide variant	NM_006567.5(FARS2):c.1296C>T (p.His432=)	Combined oxidative phosphorylation defect type 14 [RCV000714936]	likely benign	6	5771369	5771369	Human	1	name
14707273	CV635003	single nucleotide variant	NM_006567.5(FARS2):c.128C>G (p.Thr43Ser)	Combined oxidative phosphorylation defect type 14 [RCV000808731]\|Inborn genetic diseases [RCV003258984]\|not provided [RCV003106070]	uncertain significance	6	5368698	5368698	Human	2	name
14704600	CV635004	single nucleotide variant	NM_006567.5(FARS2):c.261G>A (p.Trp87Ter)	Combined oxidative phosphorylation defect type 14 [RCV000807810]	pathogenic	6	5368831	5368831	Human	1	name
14708741	CV635009	deletion	NM_006567.5(FARS2):c.812del (p.Thr271fs)	Combined oxidative phosphorylation defect type 14 [RCV000810202]	pathogenic	6	5431080	5431080	Human	1	name
15175452	CV699637	single nucleotide variant	NM_006567.5(FARS2):c.1273C>T (p.Leu425=)	Combined oxidative phosphorylation defect type 14 [RCV000950584]	likely benign	6	5771346	5771346	Human	1	name
15170495	CV710567	single nucleotide variant	NM_006567.5(FARS2):c.1008C>T (p.Asp336=)	Combined oxidative phosphorylation defect type 14 [RCV001481322]	likely benign	6	5545283	5545283	Human	1	name
26916299	CV832066	single nucleotide variant	NM_006567.5(FARS2):c.202C>T (p.Arg68Trp)	Combined oxidative phosphorylation defect type 14 [RCV001056273]\|Inborn genetic diseases [RCV004977946]	uncertain significance	6	5368772	5368772	Human	2	name
26920838	CV832067	single nucleotide variant	NM_006567.5(FARS2):c.267C>G (p.Ile89Met)	Combined oxidative phosphorylation defect type 14 [RCV001060389]\|Inborn genetic diseases [RCV002553881]\|not provided [RCV005250131]	likely benign\|uncertain significance	6	5368837	5368837	Human	2	name
38485223	CV924415	single nucleotide variant	NM_006567.5(FARS2):c.1269G>T (p.Arg423=)	Combined oxidative phosphorylation defect type 14 [RCV001219499]	likely benign\|uncertain significance	6	5771342	5771342	Human	1	name
38489100	CV933366	single nucleotide variant	NM_006567.5(FARS2):c.230A>T (p.Asn77Ile)	Combined oxidative phosphorylation defect type 14 [RCV001210053]	uncertain significance	6	5368800	5368800	Human	1	name
38486317	CV945072	single nucleotide variant	NM_006567.5(FARS2):c.120G>T (p.Glu40Asp)	Combined oxidative phosphorylation defect type 14 [RCV001237157]	uncertain significance	6	5368690	5368690	Human	1	name
38465947	CV962036	single nucleotide variant	NM_006567.5(FARS2):c.251A>C (p.His84Pro)	Combined oxidative phosphorylation defect type 14 [RCV001250396]	pathogenic	6	5368821	5368821	Human	1	name
126756443	CV991558	single nucleotide variant	NM_006567.5(FARS2):c.203G>A (p.Arg68Gln)	Combined oxidative phosphorylation defect type 14 [RCV001308113]	uncertain significance	6	5368773	5368773	Human	1	name
126763909	CV1006713	single nucleotide variant	NM_006567.5(FARS2):c.586G>T (p.Ala196Ser)	Combined oxidative phosphorylation defect type 14 [RCV001319429]	uncertain significance	6	5369156	5369156	Human	1	name
126771870	CV1006714	single nucleotide variant	NM_006567.5(FARS2):c.630G>C (p.Lys210Asn)	Combined oxidative phosphorylation defect type 14 [RCV001323408]	uncertain significance	6	5404559	5404559	Human	1	name
126740842	CV1006715	single nucleotide variant	NM_006567.5(FARS2):c.755C>G (p.Ala252Gly)	Combined oxidative phosphorylation defect type 14 [RCV001314438]	uncertain significance	6	5404684	5404684	Human	1	name
126772784	CV1006716	single nucleotide variant	NM_006567.5(FARS2):c.920G>A (p.Arg307Gln)	Combined oxidative phosphorylation defect type 14 [RCV001323956]	uncertain significance	6	5545195	5545195	Human	1	name
126730870	CV1020281	single nucleotide variant	NM_006567.5(FARS2):c.988C>A (p.Arg330Ser)	Combined oxidative phosphorylation defect type 14 [RCV001333555]	uncertain significance	6	5545263	5545263	Human	1	name
126767121	CV1027258	single nucleotide variant	NM_006567.5(FARS2):c.364A>G (p.Thr122Ala)	Combined oxidative phosphorylation defect type 14 [RCV001342696]	uncertain significance	6	5368934	5368934	Human	1	name
126733571	CV1027259	single nucleotide variant	NM_006567.5(FARS2):c.477C>A (p.His159Gln)	Combined oxidative phosphorylation defect type 14 [RCV001349804]	uncertain significance	6	5369047	5369047	Human	1	name
126920820	CV1044193	single nucleotide variant	NM_006567.5(FARS2):c.308G>T (p.Gly103Val)	Combined oxidative phosphorylation defect type 14 [RCV001374033]	uncertain significance	6	5368878	5368878	Human	1	name
126917387	CV1044194	single nucleotide variant	NM_006567.5(FARS2):c.362C>T (p.Thr121Met)	Combined oxidative phosphorylation defect type 14 [RCV001361138]\|not provided [RCV004774427]	uncertain significance	6	5368932	5368932	Human	1	name
126912990	CV1044196	single nucleotide variant	NM_006567.5(FARS2):c.997T>A (p.Trp333Arg)	Combined oxidative phosphorylation defect type 14 [RCV001359008]	uncertain significance	6	5545272	5545272	Human	1	name
127262790	CV1060771	single nucleotide variant	NM_006567.5(FARS2):c.298C>T (p.Gln100Ter)	Combined oxidative phosphorylation defect type 14 [RCV001380811]\|Inborn genetic diseases [RCV003246964]	pathogenic	6	5368868	5368868	Human	2	name
151235731	CV1318997	single nucleotide variant	NM_006567.5(FARS2):c.634G>A (p.Gly212Arg)	Combined oxidative phosphorylation defect type 14 [RCV001795813]\|not provided [RCV005428420]	uncertain significance	6	5404563	5404563	Human	1	name
151728583	CV1338932	single nucleotide variant	NM_006567.5(FARS2):c.515T>C (p.Leu172Pro)	Combined oxidative phosphorylation defect type 14 [RCV002004541]\|Combined oxidative phosphorylation defect type 14 [RCV002492096]	uncertain significance	6	5369085	5369085	Human	2	name
151798657	CV1347353	single nucleotide variant	NM_006567.5(FARS2):c.424G>A (p.Asp142Asn)	Combined oxidative phosphorylation defect type 14 [RCV002027885]	likely pathogenic	6	5368994	5368994	Human	1	name
151829363	CV1348431	single nucleotide variant	NM_006567.5(FARS2):c.916G>T (p.Asp306Tyr)	Combined oxidative phosphorylation defect type 14 [RCV001870381]	uncertain significance	6	5545191	5545191	Human	1	name
151849971	CV1355264	single nucleotide variant	NM_006567.5(FARS2):c.852A>C (p.Glu284Asp)	Combined oxidative phosphorylation defect type 14 [RCV001957846]	uncertain significance	6	5431120	5431120	Human	1	name
151759090	CV1361677	single nucleotide variant	NM_006567.5(FARS2):c.443G>A (p.Arg148Gln)	Combined oxidative phosphorylation defect type 14 [RCV001928298]\|not provided [RCV003319491]	uncertain significance	6	5369013	5369013	Human	1	name
151821298	CV1388913	single nucleotide variant	NM_006567.5(FARS2):c.626T>C (p.Ile209Thr)	Combined oxidative phosphorylation defect type 14 [RCV001975755]	uncertain significance	6	5404555	5404555	Human	1	name
151827844	CV1395773	single nucleotide variant	NM_006567.5(FARS2):c.441T>A (p.Asn147Lys)	Combined oxidative phosphorylation defect type 14 [RCV002050424]	uncertain significance	6	5369011	5369011	Human	1	name
8691035	CV140994	single nucleotide variant	NM_006567.5(FARS2):c.737C>T (p.Thr246Met)	Combined oxidative phosphorylation defect type 14 [RCV000527403]\|not provided [RCV000677019]\|not specified [RCV000124982]	benign\|likely benign\|uncertain significance	6	5404666	5404666	Human	1	name
8691036	CV140995	single nucleotide variant	NM_006567.5(FARS2):c.839A>G (p.Asn280Ser)	Combined oxidative phosphorylation defect type 14 [RCV000714927]\|Hereditary spastic paraplegia 77 [RCV001701760]\|not provided [RCV000677020]\|not specified [RCV000124983]	benign	6	5431107	5431107	Human	2	name
151788705	CV1413077	single nucleotide variant	NM_006567.5(FARS2):c.985A>G (p.Ile329Val)	Combined oxidative phosphorylation defect type 14 [RCV001989862]	uncertain significance	6	5545260	5545260	Human	1	name
151846341	CV1431496	single nucleotide variant	NM_006567.5(FARS2):c.539G>A (p.Arg180His)	Combined oxidative phosphorylation defect type 14 [RCV001957378]	uncertain significance	6	5369109	5369109	Human	1	name
151845623	CV1437766	single nucleotide variant	NM_006567.5(FARS2):c.562T>C (p.Tyr188His)	Combined oxidative phosphorylation defect type 14 [RCV001903388]	uncertain significance	6	5369132	5369132	Human	1	name
151730153	CV1441120	single nucleotide variant	NM_006567.5(FARS2):c.704C>T (p.Ala235Val)	Combined oxidative phosphorylation defect type 14 [RCV001945956]	uncertain significance	6	5404633	5404633	Human	1	name
151780034	CV1446207	single nucleotide variant	NM_006567.5(FARS2):c.425A>G (p.Asp142Gly)	Combined oxidative phosphorylation defect type 14 [RCV001989047]	likely pathogenic	6	5368995	5368995	Human	1	name
151844276	CV1457793	single nucleotide variant	NM_006567.5(FARS2):c.955C>A (p.Leu319Ile)	Combined oxidative phosphorylation defect type 14 [RCV001936497]\|Inborn genetic diseases [RCV002560612]	uncertain significance	6	5545230	5545230	Human	2	name
151826871	CV1471814	single nucleotide variant	NM_006567.5(FARS2):c.698T>C (p.Met233Thr)	Combined oxidative phosphorylation defect type 14 [RCV002030413]	uncertain significance	6	5404627	5404627	Human	1	name
151887314	CV1471947	single nucleotide variant	NM_006567.5(FARS2):c.407C>T (p.Pro136Leu)	Combined oxidative phosphorylation defect type 14 [RCV002000858]	uncertain significance	6	5368977	5368977	Human	1	name
151791804	CV1486273	single nucleotide variant	NM_006567.5(FARS2):c.999G>A (p.Trp333Ter)	Combined oxidative phosphorylation defect type 14 [RCV002047179]	pathogenic	6	5545274	5545274	Human	1	name
151791817	CV1490042	single nucleotide variant	NM_006567.5(FARS2):c.668G>C (p.Arg223Pro)	Combined oxidative phosphorylation defect type 14 [RCV001952121]	uncertain significance	6	5404597	5404597	Human	1	name
151878288	CV1493722	single nucleotide variant	NM_006567.5(FARS2):c.592C>T (p.Arg198Trp)	Combined oxidative phosphorylation defect type 14 [RCV001982182]	uncertain significance	6	5369162	5369162	Human	1	name
151814223	CV1494804	single nucleotide variant	NM_006567.5(FARS2):c.409A>G (p.Ser137Gly)	Combined oxidative phosphorylation defect type 14 [RCV001954122]\|Inborn genetic diseases [RCV002569165]	uncertain significance	6	5368979	5368979	Human	2	name
151759669	CV1500828	single nucleotide variant	NM_006567.5(FARS2):c.382A>G (p.Ser128Gly)	Combined oxidative phosphorylation defect type 14 [RCV001987116]	uncertain significance	6	5368952	5368952	Human	1	name
151723699	CV1507740	single nucleotide variant	NM_006567.5(FARS2):c.815A>C (p.His272Pro)	Combined oxidative phosphorylation defect type 14 [RCV001983417]	uncertain significance	6	5431083	5431083	Human	1	name
151752172	CV1508495	single nucleotide variant	NM_006567.5(FARS2):c.700G>A (p.Glu234Lys)	Combined oxidative phosphorylation defect type 14 [RCV001986398]\|Inborn genetic diseases [RCV002608047]	uncertain significance	6	5404629	5404629	Human	2	name
151865268	CV1509764	single nucleotide variant	NM_006567.5(FARS2):c.308G>C (p.Gly103Ala)	Combined oxidative phosphorylation defect type 14 [RCV001924521]	uncertain significance	6	5368878	5368878	Human	1	name
151792401	CV1515582	single nucleotide variant	NM_006567.5(FARS2):c.589G>A (p.Val197Met)	Combined oxidative phosphorylation defect type 14 [RCV002027348]\|not specified [RCV004782861]	pathogenic\|likely pathogenic\|uncertain significance	6	5369159	5369159	Human	1	name
151870457	CV1515616	single nucleotide variant	NM_006567.5(FARS2):c.907G>A (p.Gly303Ser)	Combined oxidative phosphorylation defect type 14 [RCV001981228]\|Inborn genetic diseases [RCV003250389]	uncertain significance	6	5545182	5545182	Human	2	name
156287188	CV1907490	single nucleotide variant	NM_006567.5(FARS2):c.453G>A (p.Met151Ile)	Combined oxidative phosphorylation defect type 14 [RCV003087331]	uncertain significance	6	5369023	5369023	Human	1	name
156042622	CV1999090	single nucleotide variant	NM_006567.5(FARS2):c.929G>A (p.Trp310Ter)	Combined oxidative phosphorylation defect type 14 [RCV002659096]	pathogenic	6	5545204	5545204	Human	1	name
156370653	CV2007710	single nucleotide variant	NM_006567.5(FARS2):c.631G>A (p.Asp211Asn)	Combined oxidative phosphorylation defect type 14 [RCV002676870]	uncertain significance	6	5404560	5404560	Human	1	name
156367066	CV2010831	single nucleotide variant	NM_006567.5(FARS2):c.902C>T (p.Ser301Leu)	Combined oxidative phosphorylation defect type 14 [RCV002676637]\|FARS2-related disorder [RCV003403885]	uncertain significance	6	5431170	5431170	Human	1	name , trait , alternate_id
156281903	CV2016383	single nucleotide variant	NM_006567.5(FARS2):c.317G>T (p.Gly106Val)	Combined oxidative phosphorylation defect type 14 [RCV002715328]	uncertain significance	6	5368887	5368887	Human	1	name
156183707	CV2020588	single nucleotide variant	NM_006567.5(FARS2):c.922A>G (p.Ile308Val)	Combined oxidative phosphorylation defect type 14 [RCV002710862]	uncertain significance	6	5545197	5545197	Human	1	name
156080838	CV2022784	single nucleotide variant	NM_006567.5(FARS2):c.835A>G (p.Ile279Val)	Combined oxidative phosphorylation defect type 14 [RCV002760619]	benign	6	5431103	5431103	Human	1	name
156372187	CV2028170	single nucleotide variant	NM_006567.5(FARS2):c.508G>A (p.Ala170Thr)	Combined oxidative phosphorylation defect type 14 [RCV002721610]	uncertain significance	6	5369078	5369078	Human	1	name
156012785	CV2042136	single nucleotide variant	NM_006567.5(FARS2):c.311G>A (p.Arg104His)	Combined oxidative phosphorylation defect type 14 [RCV002780235]	uncertain significance	6	5368881	5368881	Human	1	name
156374017	CV2052857	single nucleotide variant	NM_006567.5(FARS2):c.619G>T (p.Ala207Ser)	Combined oxidative phosphorylation defect type 14 [RCV002814537]	uncertain significance	6	5404548	5404548	Human	1	name
155921051	CV2073707	single nucleotide variant	NM_006567.5(FARS2):c.445A>T (p.Thr149Ser)	Combined oxidative phosphorylation defect type 14 [RCV002838319]	uncertain significance	6	5369015	5369015	Human	1	name
156040034	CV2094074	single nucleotide variant	NM_006567.5(FARS2):c.389T>G (p.Leu130Arg)	Combined oxidative phosphorylation defect type 14 [RCV002885776]	uncertain significance	6	5368959	5368959	Human	1	name
10411231	CV211249	single nucleotide variant	NM_006567.5(FARS2):c.323C>T (p.Pro108Leu)	Combined oxidative phosphorylation defect type 14 [RCV000807526]\|Inborn genetic diseases [RCV002517210]	likely pathogenic\|uncertain significance	6	5368893	5368893	Human	2	name
10410068	CV211250	single nucleotide variant	NM_006567.5(FARS2):c.403C>G (p.His135Asp)	Combined oxidative phosphorylation defect type 14 [RCV000714939]	likely pathogenic	6	5368973	5368973	Human	1	name
10410338	CV211251	single nucleotide variant	NM_006567.5(FARS2):c.496G>A (p.Ala166Thr)	Combined oxidative phosphorylation defect type 14 [RCV001853177]\|not provided [RCV005241319]	likely benign\|uncertain significance	6	5369066	5369066	Human	1	name
10411472	CV211252	single nucleotide variant	NM_006567.5(FARS2):c.506A>T (p.Asp169Val)	Combined oxidative phosphorylation defect type 14 [RCV000557427]\|FARS2-related disorder [RCV003937732]\|not provided [RCV000200335]	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	5369076	5369076	Human	1	name , trait , alternate_id
10410977	CV211253	single nucleotide variant	NM_006567.5(FARS2):c.550G>A (p.Asp184Asn)	Combined oxidative phosphorylation defect type 14 [RCV000535882]\|Combined oxidative phosphorylation defect type 14 [RCV003224222]\|Inborn genetic diseases [RCV002517211]\|See cases [RCV002252050]\|not provided [RCV000199293]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	6	5369120	5369120	Human	3	name
10409556	CV211254	single nucleotide variant	NM_006567.5(FARS2):c.667C>T (p.Arg223Cys)	Combined oxidative phosphorylation defect type 14 [RCV000650594]\|not provided [RCV000196357]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	6	5404596	5404596	Human	1	name
10409192	CV211255	single nucleotide variant	NM_006567.5(FARS2):c.899A>G (p.Asn300Ser)	Combined oxidative phosphorylation defect type 14 [RCV001242815]\|not provided [RCV000195620]	uncertain significance	6	5431167	5431167	Human	1	name
10411347	CV211256	single nucleotide variant	NM_006567.5(FARS2):c.904G>T (p.Ala302Ser)	Combined oxidative phosphorylation defect type 14 [RCV001348670]	uncertain significance	6	5431172	5431172	Human	1	name
10409619	CV211257	single nucleotide variant	NM_006567.5(FARS2):c.971A>G (p.Tyr324Cys)	Combined oxidative phosphorylation defect type 14 [RCV000541945]\|not provided [RCV000196488]	likely pathogenic\|uncertain significance	6	5545246	5545246	Human	1	name
10410474	CV211258	single nucleotide variant	NM_006567.5(FARS2):c.989G>A (p.Arg330His)	Combined oxidative phosphorylation defect type 14 [RCV001215842]\|not provided [RCV000677021]	likely pathogenic\|uncertain significance	6	5545264	5545264	Human	1	name
155965625	CV2155989	single nucleotide variant	NM_006567.5(FARS2):c.388C>T (p.Leu130Phe)	Combined oxidative phosphorylation defect type 14 [RCV003015682]	uncertain significance	6	5368958	5368958	Human	1	name
156341851	CV2174960	single nucleotide variant	NM_006567.5(FARS2):c.999G>T (p.Trp333Cys)	Combined oxidative phosphorylation defect type 14 [RCV003047780]	uncertain significance	6	5545274	5545274	Human	1	name
156048809	CV2220224	single nucleotide variant	NM_006567.5(FARS2):c.697A>G (p.Met233Val)	Inborn genetic diseases [RCV002692718]	uncertain significance	6	5404626	5404626	Human	1	name
155981787	CV2244117	single nucleotide variant	NM_006567.5(FARS2):c.758A>G (p.His253Arg)	Inborn genetic diseases [RCV002777779]	uncertain significance	6	5404687	5404687	Human	1	name
156207024	CV2307840	single nucleotide variant	NM_006567.5(FARS2):c.892C>G (p.Leu298Val)	Inborn genetic diseases [RCV002893517]	uncertain significance	6	5431160	5431160	Human	1	name
155970343	CV2309177	single nucleotide variant	NM_006567.5(FARS2):c.754G>C (p.Ala252Pro)	Inborn genetic diseases [RCV002906871]	uncertain significance	6	5404683	5404683	Human	1	name
11531317	CV247570	single nucleotide variant	NM_006567.5(FARS2):c.973G>T (p.Asp325Tyr)	Combined oxidative phosphorylation defect type 14 [RCV000239485]	pathogenic\|likely pathogenic	6	5545248	5545248	Human	1	name
11531338	CV247571	single nucleotide variant	NM_006567.5(FARS2):c.424G>T (p.Asp142Tyr)	Hereditary spastic paraplegia 77 [RCV000239526]	pathogenic	6	5368994	5368994	Human	1	name
401828462	CV2743387	single nucleotide variant	NM_006567.5(FARS2):c.862G>C (p.Val288Leu)	Hereditary spastic paraplegia 77 [RCV003326229]	uncertain significance	6	5431130	5431130	Human	1	name
401936268	CV2803039	single nucleotide variant	NM_006567.5(FARS2):c.509C>T (p.Ala170Val)	FARS2-related disorder [RCV003414271]	uncertain significance	6	5369079	5369079	Human		name , trait , alternate_id
401940641	CV2842121	single nucleotide variant	NM_006567.5(FARS2):c.593G>T (p.Arg198Leu)	Combined oxidative phosphorylation defect type 14 [RCV003459881]	pathogenic\|uncertain significance	6	5369163	5369163	Human	1	name
405044673	CV3031200	single nucleotide variant	NM_006567.5(FARS2):c.475C>T (p.His159Tyr)	Combined oxidative phosphorylation defect type 14 [RCV003654007]	uncertain significance	6	5369045	5369045	Human	1	name
405046176	CV3035509	single nucleotide variant	NM_006567.5(FARS2):c.925G>C (p.Gly309Arg)	Combined oxidative phosphorylation defect type 14 [RCV003654079]	likely pathogenic	6	5545200	5545200	Human	1	name
405036949	CV3075870	single nucleotide variant	NM_006567.5(FARS2):c.829A>G (p.Met277Val)	Combined oxidative phosphorylation defect type 14 [RCV003652792]	benign	6	5431097	5431097	Human	1	name
402467331	CV3174065	single nucleotide variant	NM_006567.5(FARS2):c.442C>T (p.Arg148Trp)	Combined oxidative phosphorylation defect type 14 [RCV003873348]	uncertain significance	6	5369012	5369012	Human	1	name
405763124	CV3253108	single nucleotide variant	NM_006567.5(FARS2):c.362C>A (p.Thr121Lys)	Inborn genetic diseases [RCV004383824]	uncertain significance	6	5368932	5368932	Human	1	name
405763131	CV3253109	single nucleotide variant	NM_006567.5(FARS2):c.395C>T (p.Pro132Leu)	Inborn genetic diseases [RCV004383825]	uncertain significance	6	5368965	5368965	Human	1	name
407492629	CV3432137	single nucleotide variant	NM_006567.5(FARS2):c.753G>A (p.Met251Ile)	Inborn genetic diseases [RCV004620835]	uncertain significance	6	5404682	5404682	Human	1	name
407492633	CV3432138	single nucleotide variant	NM_006567.5(FARS2):c.310C>A (p.Arg104Ser)	Inborn genetic diseases [RCV004620836]	uncertain significance	6	5368880	5368880	Human	1	name
12743152	CV361312	single nucleotide variant	NM_006567.5(FARS2):c.361A>G (p.Thr121Ala)	Combined oxidative phosphorylation defect type 14 [RCV001851007]\|Inborn genetic diseases [RCV005338159]\|not provided [RCV000416085]	uncertain significance	6	5368931	5368931	Human	2	name
12848952	CV363986	single nucleotide variant	NM_006567.5(FARS2):c.973G>A (p.Asp325Asn)	Combined oxidative phosphorylation defect type 14 [RCV001067537]\|not provided [RCV000421435]\|not specified [RCV003330663]	uncertain significance	6	5545248	5545248	Human	1	name
12848789	CV368991	single nucleotide variant	NM_006567.5(FARS2):c.646C>T (p.Gln216Ter)	Combined oxidative phosphorylation defect type 14 [RCV001389847]\|FARS2-related disorder [RCV003418132]\|not provided [RCV000418107]	pathogenic\|likely pathogenic	6	5404575	5404575	Human	1	name , trait , alternate_id
597963659	CV3754194	single nucleotide variant	NM_006567.5(FARS2):c.932C>T (p.Ala311Val)	Combined oxidative phosphorylation defect type 14 [RCV005082301]	uncertain significance	6	5545207	5545207	Human	1	name
597885746	CV3800017	single nucleotide variant	NM_006567.5(FARS2):c.646C>G (p.Gln216Glu)	Combined oxidative phosphorylation defect type 14 [RCV005150496]	uncertain significance	6	5404575	5404575	Human	1	name
597910375	CV3806596	single nucleotide variant	NM_006567.5(FARS2):c.340G>A (p.Asp114Asn)	Combined oxidative phosphorylation defect type 14 [RCV005154163]	uncertain significance	6	5368910	5368910	Human	1	name
597912405	CV3807107	single nucleotide variant	NM_006567.5(FARS2):c.593G>A (p.Arg198Gln)	Combined oxidative phosphorylation defect type 14 [RCV005154477]	uncertain significance	6	5369163	5369163	Human	1	name
597860387	CV3832920	single nucleotide variant	NM_006567.5(FARS2):c.528T>A (p.Asp176Glu)	Combined oxidative phosphorylation defect type 14 [RCV005174833]	uncertain significance	6	5369098	5369098	Human	1	name
597956985	CV3838362	single nucleotide variant	NM_006567.5(FARS2):c.911C>T (p.Ala304Val)	Combined oxidative phosphorylation defect type 14 [RCV005191737]	uncertain significance	6	5545186	5545186	Human	1	name
597907028	CV3853515	single nucleotide variant	NM_006567.5(FARS2):c.976A>G (p.Ile326Val)	Combined oxidative phosphorylation defect type 14 [RCV005202994]	uncertain significance	6	5545251	5545251	Human	1	name
597925766	CV3863541	single nucleotide variant	NM_006567.5(FARS2):c.413G>A (p.Arg138Lys)	not provided [RCV005205866]	uncertain significance	6	5368983	5368983	Human		name
598128187	CV3883208	single nucleotide variant	NM_006567.5(FARS2):c.595C>T (p.Leu199Phe)	not provided [RCV005234741]	uncertain significance	6	5369165	5369165	Human		name
598125936	CV3883363	single nucleotide variant	NM_006567.5(FARS2):c.541G>A (p.Asp181Asn)	Combined oxidative phosphorylation defect type 14 [RCV005233234]	likely pathogenic	6	5369111	5369111	Human	1	name
13492848	CV455655	single nucleotide variant	NM_006567.5(FARS2):c.344A>G (p.Asn115Ser)	Combined oxidative phosphorylation defect type 14 [RCV000557742]\|Inborn genetic diseases [RCV004619340]	likely benign\|uncertain significance	6	5368914	5368914	Human	2	name
13465568	CV455850	single nucleotide variant	NM_006567.5(FARS2):c.407C>A (p.Pro136His)	Combined oxidative phosphorylation defect type 14 [RCV000542910]\|Combined oxidative phosphorylation defect type 14 [RCV005398839]\|FARS2-related disorder [RCV005056163]\|not provided [RCV001545144]	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	5368977	5368977	Human	2	name , trait , alternate_id
13470644	CV455852	single nucleotide variant	NM_006567.5(FARS2):c.497C>T (p.Ala166Val)	Combined oxidative phosphorylation defect type 14 [RCV000546306]\|Combined oxidative phosphorylation defect type 14 [RCV002483484]\|not provided [RCV003222035]	conflicting interpretations of pathogenicity\|uncertain significance	6	5369067	5369067	Human	2	name
13479414	CV455854	single nucleotide variant	NM_006567.5(FARS2):c.563A>G (p.Tyr188Cys)	Combined oxidative phosphorylation defect type 14 [RCV000550511]	uncertain significance	6	5369133	5369133	Human	1	name
13476745	CV456258	single nucleotide variant	NM_006567.5(FARS2):c.676C>T (p.His226Tyr)	Combined oxidative phosphorylation defect type 14 [RCV000549295]\|FARS2-related disorder [RCV003935503]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	5404605	5404605	Human	1	name , trait , alternate_id
13475985	CV456263	single nucleotide variant	NM_006567.5(FARS2):c.754G>A (p.Ala252Thr)	Combined oxidative phosphorylation defect type 14 [RCV000548968]	uncertain significance	6	5404683	5404683	Human	1	name
13477839	CV456585	single nucleotide variant	NM_006567.5(FARS2):c.919C>T (p.Arg307Ter)	Combined oxidative phosphorylation defect type 14 [RCV000527357]\|FARS2-related disorder [RCV004579555]\|not provided [RCV000598985]	pathogenic\|likely pathogenic\|uncertain significance	6	5545194	5545194	Human	1	name , trait , alternate_id
13508659	CV481208	single nucleotide variant	NM_006567.5(FARS2):c.461C>T (p.Ala154Val)	Combined oxidative phosphorylation defect type 14 [RCV001246829]\|Hereditary spastic paraplegia 77 [RCV000578201]	pathogenic\|likely pathogenic\|uncertain significance	6	5369031	5369031	Human	2	name
8604384	CV48423	single nucleotide variant	NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys)	Combined oxidative phosphorylation defect type 14 [RCV000033044]\|Mitochondrial encephalomyopathy [RCV000162158]\|not provided [RCV000497519]	pathogenic\|likely pathogenic	6	5369001	5369001	Human	4	name
8604385	CV48424	single nucleotide variant	NM_006567.5(FARS2):c.986T>C (p.Ile329Thr)	Combined oxidative phosphorylation defect type 14 [RCV000033045]	pathogenic\|likely pathogenic	6	5545261	5545261	Human	1	name
13532367	CV511685	single nucleotide variant	NM_006567.5(FARS2):c.801C>G (p.Tyr267Ter)	Combined oxidative phosphorylation defect type 14 [RCV001225070]\|Inborn genetic diseases [RCV000624131]	pathogenic	6	5431069	5431069	Human	2	name
13623058	CV522053	single nucleotide variant	NM_006567.5(FARS2):c.730A>C (p.Lys244Gln)	Combined oxidative phosphorylation defect type 14 [RCV000650596]\|not provided [RCV005409703]	uncertain significance	6	5404659	5404659	Human	1	name
13623061	CV522411	single nucleotide variant	NM_006567.5(FARS2):c.411C>A (p.Ser137Arg)	Combined oxidative phosphorylation defect type 14 [RCV000650599]\|Inborn genetic diseases [RCV004972822]	uncertain significance	6	5368981	5368981	Human	2	name
13623112	CV522412	single nucleotide variant	NM_006567.5(FARS2):c.781A>T (p.Ile261Leu)	Combined oxidative phosphorylation defect type 14 [RCV000650593]\|Combined oxidative phosphorylation defect type 14 [RCV005392239]\|Inborn genetic diseases [RCV002531964]	uncertain significance	6	5431049	5431049	Human	3	name
13838656	CV536153	single nucleotide variant	NM_006567.5(FARS2):c.422G>A (p.Gly141Glu)	Hereditary spastic paraplegia 77 [RCV000735807]	uncertain significance	6	5368992	5368992	Human	1	name
13802699	CV560763	single nucleotide variant	NM_006567.5(FARS2):c.578A>G (p.Gln193Arg)	Combined oxidative phosphorylation defect type 14 [RCV000698505]	uncertain significance	6	5369148	5369148	Human	1	name
13802862	CV565755	single nucleotide variant	NM_006567.5(FARS2):c.839A>C (p.Asn280Thr)	Combined oxidative phosphorylation defect type 14 [RCV000698704]	benign\|uncertain significance	6	5431107	5431107	Human	1	name
13827689	CV578608	single nucleotide variant	NM_006567.5(FARS2):c.310C>T (p.Arg104Cys)	Combined oxidative phosphorylation defect type 14 [RCV000714913]	uncertain significance	6	5368880	5368880	Human	1	name
13827690	CV578609	single nucleotide variant	NM_006567.5(FARS2):c.332C>T (p.Ser111Leu)	Combined oxidative phosphorylation defect type 14 [RCV000714914]\|not provided [RCV004588158]	uncertain significance	6	5368902	5368902	Human	1	name
13827692	CV578611	single nucleotide variant	NM_006567.5(FARS2):c.426C>A (p.Asp142Glu)	Combined oxidative phosphorylation defect type 14 [RCV000714917]	uncertain significance	6	5368996	5368996	Human	1	name
13827710	CV578612	single nucleotide variant	NM_006567.5(FARS2):c.457A>G (p.Arg153Gly)	Combined oxidative phosphorylation defect type 14 [RCV000714940]	likely pathogenic\|conflicting interpretations of pathogenicity	6	5369027	5369027	Human	1	name
13827716	CV578613	single nucleotide variant	NM_006567.5(FARS2):c.467C>T (p.Thr156Met)	Combined oxidative phosphorylation defect type 14 [RCV000714948]\|not provided [RCV003326510]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	6	5369037	5369037	Human	1	name
13827693	CV578614	single nucleotide variant	NM_006567.5(FARS2):c.476A>C (p.His159Pro)	Combined oxidative phosphorylation defect type 14 [RCV000714919]\|Hereditary spastic paraplegia 77 [RCV000714941]	likely pathogenic\|uncertain significance	6	5369046	5369046	Human	2	name
13827711	CV578615	single nucleotide variant	NM_006567.5(FARS2):c.530T>A (p.Val177Asp)	Combined oxidative phosphorylation defect type 14 [RCV000714942]	likely pathogenic	6	5369100	5369100	Human	1	name
13827696	CV578618	single nucleotide variant	NM_006567.5(FARS2):c.638A>G (p.Glu213Gly)	Combined oxidative phosphorylation defect type 14 [RCV000714922]	uncertain significance	6	5404567	5404567	Human	1	name
13827697	CV578619	single nucleotide variant	NM_006567.5(FARS2):c.706G>A (p.Val236Met)	Combined oxidative phosphorylation defect type 14 [RCV000714923]	uncertain significance	6	5404635	5404635	Human	1	name
13827698	CV578620	single nucleotide variant	NM_006567.5(FARS2):c.748C>T (p.Leu250Phe)	Combined oxidative phosphorylation defect type 14 [RCV000714924]	uncertain significance	6	5404677	5404677	Human	1	name
13827712	CV578624	single nucleotide variant	NM_006567.5(FARS2):c.925G>A (p.Gly309Ser)	Combined oxidative phosphorylation defect type 14 [RCV000714943]\|not provided [RCV001092144]	pathogenic\|likely pathogenic	6	5545200	5545200	Human	1	name
14720990	CV635005	single nucleotide variant	NM_006567.5(FARS2):c.509C>G (p.Ala170Gly)	Combined oxidative phosphorylation defect type 14 [RCV000813261]	likely benign\|uncertain significance	6	5369079	5369079	Human	1	name
14743122	CV635006	single nucleotide variant	NM_006567.5(FARS2):c.545A>G (p.Gln182Arg)	Combined oxidative phosphorylation defect type 14 [RCV000823227]	uncertain significance	6	5369115	5369115	Human	1	name
14728237	CV635007	single nucleotide variant	NM_006567.5(FARS2):c.692A>T (p.His231Leu)	Combined oxidative phosphorylation defect type 14 [RCV000816426]	uncertain significance	6	5404621	5404621	Human	1	name
14723788	CV635008	single nucleotide variant	NM_006567.5(FARS2):c.781A>G (p.Ile261Val)	Combined oxidative phosphorylation defect type 14 [RCV000798111]	likely benign\|uncertain significance	6	5431049	5431049	Human	1	name
14740033	CV635010	single nucleotide variant	NM_006567.5(FARS2):c.882G>C (p.Met294Ile)	Combined oxidative phosphorylation defect type 14 [RCV000821621]	uncertain significance	6	5431150	5431150	Human	1	name
26913597	CV832068	single nucleotide variant	NM_006567.5(FARS2):c.629A>G (p.Lys210Arg)	Combined oxidative phosphorylation defect type 14 [RCV001054348]\|Inborn genetic diseases [RCV003259065]	uncertain significance	6	5404558	5404558	Human	2	name
26899463	CV832069	single nucleotide variant	NM_006567.5(FARS2):c.649C>G (p.Leu217Val)	Combined oxidative phosphorylation defect type 14 [RCV001049242]	uncertain significance	6	5404578	5404578	Human	1	name
26899759	CV832070	single nucleotide variant	NM_006567.5(FARS2):c.694A>G (p.Thr232Ala)	Combined oxidative phosphorylation defect type 14 [RCV001035105]	uncertain significance	6	5404623	5404623	Human	1	name
26896878	CV832071	single nucleotide variant	NM_006567.5(FARS2):c.846T>A (p.His282Gln)	Combined oxidative phosphorylation defect type 14 [RCV001048277]	benign\|uncertain significance	6	5431114	5431114	Human	1	name
26895839	CV832072	single nucleotide variant	NM_006567.5(FARS2):c.914A>G (p.Gln305Arg)	Combined oxidative phosphorylation defect type 14 [RCV001069752]	uncertain significance	6	5545189	5545189	Human	1	name
26884850	CV832073	single nucleotide variant	NM_006567.5(FARS2):c.958G>A (p.Ala320Thr)	Combined oxidative phosphorylation defect type 14 [RCV001043192]	uncertain significance	6	5545233	5545233	Human	1	name
26922282	CV832074	single nucleotide variant	NM_006567.5(FARS2):c.958G>T (p.Ala320Ser)	Combined oxidative phosphorylation defect type 14 [RCV001061787]	uncertain significance	6	5545233	5545233	Human	1	name
38457157	CV919043	single nucleotide variant	NM_006567.5(FARS2):c.559C>G (p.His187Asp)	Combined oxidative phosphorylation defect type 14 [RCV001196436]	uncertain significance	6	5369129	5369129	Human	1	name
38487646	CV924383	single nucleotide variant	NM_006567.5(FARS2):c.410G>C (p.Ser137Thr)	Combined oxidative phosphorylation defect type 14 [RCV001220834]	uncertain significance	6	5368980	5368980	Human	1	name
38487584	CV924384	single nucleotide variant	NM_006567.5(FARS2):c.575A>C (p.His192Pro)	Combined oxidative phosphorylation defect type 14 [RCV001220788]	uncertain significance	6	5369145	5369145	Human	1	name
38493192	CV924385	single nucleotide variant	NM_006567.5(FARS2):c.673G>A (p.Ala225Thr)	Combined oxidative phosphorylation defect type 14 [RCV001224104]	uncertain significance	6	5404602	5404602	Human	1	name
38489670	CV924386	single nucleotide variant	NM_006567.5(FARS2):c.674C>T (p.Ala225Val)	Combined oxidative phosphorylation defect type 14 [RCV001221805]\|Inborn genetic diseases [RCV002562536]\|not provided [RCV001577967]	uncertain significance	6	5404603	5404603	Human	2	name
38491047	CV924387	single nucleotide variant	NM_006567.5(FARS2):c.874G>A (p.Gly292Arg)	Combined oxidative phosphorylation defect type 14 [RCV001222564]	uncertain significance	6	5431142	5431142	Human	1	name
38491432	CV924388	single nucleotide variant	NM_006567.5(FARS2):c.905C>T (p.Ala302Val)	Combined oxidative phosphorylation defect type 14 [RCV001222832]	uncertain significance	6	5545180	5545180	Human	1	name
38473830	CV924389	single nucleotide variant	NM_006567.5(FARS2):c.988C>T (p.Arg330Cys)	Combined oxidative phosphorylation defect type 14 [RCV001214502]\|Hereditary spastic paraplegia 77 [RCV002283529]\|not provided [RCV002284473]	uncertain significance	6	5545263	5545263	Human	2	name
38484201	CV933368	single nucleotide variant	NM_006567.5(FARS2):c.455T>G (p.Leu152Arg)	Combined oxidative phosphorylation defect type 14 [RCV001207951]	uncertain significance	6	5369025	5369025	Human	1	name
38470496	CV933370	single nucleotide variant	NM_006567.5(FARS2):c.961A>G (p.Met321Val)	Combined oxidative phosphorylation defect type 14 [RCV001202603]	uncertain significance	6	5545236	5545236	Human	1	name
38477407	CV945073	single nucleotide variant	NM_006567.5(FARS2):c.382A>T (p.Ser128Cys)	Combined oxidative phosphorylation defect type 14 [RCV001233474]	uncertain significance	6	5368952	5368952	Human	1	name
38461562	CV945074	single nucleotide variant	NM_006567.5(FARS2):c.625A>G (p.Ile209Val)	Combined oxidative phosphorylation defect type 14 [RCV001229561]\|Inborn genetic diseases [RCV003284087]	likely benign\|uncertain significance	6	5404554	5404554	Human	2	name
38493385	CV954504	single nucleotide variant	NM_006567.5(FARS2):c.886C>T (p.Gln296Ter)	Combined oxidative phosphorylation defect type 14 [RCV001240651]	pathogenic	6	5431154	5431154	Human	1	name
126764129	CV991559	single nucleotide variant	NM_006567.5(FARS2):c.655G>C (p.Glu219Gln)	Combined oxidative phosphorylation defect type 14 [RCV001300973]	uncertain significance	6	5404584	5404584	Human	1	name
126735889	CV991560	single nucleotide variant	NM_006567.5(FARS2):c.668G>A (p.Arg223His)	Combined oxidative phosphorylation defect type 14 [RCV001295146]	uncertain significance	6	5404597	5404597	Human	1	name
126748467	CV991561	single nucleotide variant	NM_006567.5(FARS2):c.751A>G (p.Met251Val)	Combined oxidative phosphorylation defect type 14 [RCV001296936]	uncertain significance	6	5404680	5404680	Human	1	name
126761911	CV991562	single nucleotide variant	NM_006567.5(FARS2):c.752T>C (p.Met251Thr)	Combined oxidative phosphorylation defect type 14 [RCV001309739]	uncertain significance	6	5404681	5404681	Human	1	name
126750569	CV1006718	single nucleotide variant	NM_006567.5(FARS2):c.1210C>T (p.His404Tyr)	Combined oxidative phosphorylation defect type 14 [RCV001315944]	uncertain significance	6	5613313	5613313	Human	1	name
126730865	CV1020282	single nucleotide variant	NM_006567.5(FARS2):c.1004A>T (p.Glu335Val)	Hereditary spastic paraplegia 77 [RCV001333554]	uncertain significance	6	5545279	5545279	Human	1	name
126774610	CV1027260	single nucleotide variant	NM_006567.5(FARS2):c.1006G>A (p.Asp336Asn)	Combined oxidative phosphorylation defect type 14 [RCV001347420]	uncertain significance	6	5545281	5545281	Human	1	name
126749711	CV1027261	single nucleotide variant	NM_006567.5(FARS2):c.1199A>G (p.Asp400Gly)	Combined oxidative phosphorylation defect type 14 [RCV001337902]	uncertain significance	6	5613302	5613302	Human	1	name
126774366	CV1027331	single nucleotide variant	NM_006567.5(FARS2):c.1261A>G (p.Met421Val)	Combined oxidative phosphorylation defect type 14 [RCV001347146]	uncertain significance	6	5771334	5771334	Human	1	name
127258205	CV1060772	single nucleotide variant	NM_006567.5(FARS2):c.1156C>T (p.Arg386Ter)	Combined oxidative phosphorylation defect type 14 [RCV001386898]\|FARS2-related disorder [RCV004550098]\|not provided [RCV004728703]	pathogenic\|likely pathogenic	6	5613259	5613259	Human	1	name , trait , alternate_id
151784786	CV1344737	single nucleotide variant	NM_006567.5(FARS2):c.1064A>G (p.Gln355Arg)	Combined oxidative phosphorylation defect type 14 [RCV001989462]	uncertain significance	6	5545339	5545339	Human	1	name
151744154	CV1368032	single nucleotide variant	NM_006567.5(FARS2):c.1157G>A (p.Arg386Gln)	Combined oxidative phosphorylation defect type 14 [RCV001871325]	uncertain significance	6	5613260	5613260	Human	1	name
151846825	CV1368637	single nucleotide variant	NM_006567.5(FARS2):c.1013G>A (p.Arg338His)	Combined oxidative phosphorylation defect type 14 [RCV001936818]\|not provided [RCV003313253]	likely pathogenic\|uncertain significance	6	5545288	5545288	Human	1	name
151789639	CV1377225	single nucleotide variant	NM_006567.5(FARS2):c.1181A>G (p.Glu394Gly)	Combined oxidative phosphorylation defect type 14 [RCV001898052]	uncertain significance	6	5613284	5613284	Human	1	name
151818438	CV1390562	single nucleotide variant	NM_006567.5(FARS2):c.1306G>A (p.Ala436Thr)	Combined oxidative phosphorylation defect type 14 [RCV001954514]	uncertain significance	6	5771379	5771379	Human	1	name
151823581	CV1397760	single nucleotide variant	NM_006567.5(FARS2):c.1213C>T (p.Pro405Ser)	Combined oxidative phosphorylation defect type 14 [RCV001975982]	uncertain significance	6	5613316	5613316	Human	1	name
151766508	CV1410231	single nucleotide variant	NM_006567.5(FARS2):c.1293G>T (p.Arg431Ser)	Combined oxidative phosphorylation defect type 14 [RCV001987830]	uncertain significance	6	5771366	5771366	Human	1	name
151771526	CV1410907	single nucleotide variant	NM_006567.5(FARS2):c.1050G>C (p.Gln350His)	Combined oxidative phosphorylation defect type 14 [RCV001971228]	uncertain significance	6	5545325	5545325	Human	1	name
151770217	CV1429072	single nucleotide variant	NM_006567.5(FARS2):c.1289T>C (p.Val430Ala)	Combined oxidative phosphorylation defect type 14 [RCV001988166]	uncertain significance	6	5771362	5771362	Human	1	name
151837731	CV1445230	single nucleotide variant	NM_006567.5(FARS2):c.1186G>A (p.Val396Ile)	Combined oxidative phosphorylation defect type 14 [RCV001994374]	uncertain significance	6	5613289	5613289	Human	1	name
151814087	CV1449287	single nucleotide variant	NM_006567.5(FARS2):c.1163T>C (p.Ile388Thr)	Combined oxidative phosphorylation defect type 14 [RCV002012732]	uncertain significance	6	5613266	5613266	Human	1	name
151753301	CV1501194	single nucleotide variant	NM_006567.5(FARS2):c.1312C>G (p.Gln438Glu)	Combined oxidative phosphorylation defect type 14 [RCV001969419]	uncertain significance	6	5771385	5771385	Human	1	name
151876855	CV1508193	single nucleotide variant	NM_006567.5(FARS2):c.1058A>G (p.Lys353Arg)	Combined oxidative phosphorylation defect type 14 [RCV001961148]	uncertain significance	6	5545333	5545333	Human	1	name
151753057	CV1508623	single nucleotide variant	NM_006567.5(FARS2):c.1256G>T (p.Arg419Leu)	Combined oxidative phosphorylation defect type 14 [RCV001986491]	likely pathogenic	6	5771329	5771329	Human	1	name
151828570	CV1513857	single nucleotide variant	NM_006567.5(FARS2):c.1282A>G (p.Arg428Gly)	Combined oxidative phosphorylation defect type 14 [RCV001955450]	uncertain significance	6	5771355	5771355	Human	1	name
155709738	CV1775273	single nucleotide variant	NM_006567.5(FARS2):c.1193T>A (p.Leu398His)	Combined oxidative phosphorylation defect type 14 [RCV002299411]	uncertain significance	6	5613296	5613296	Human	1	name
156216307	CV1903363	single nucleotide variant	NM_006567.5(FARS2):c.1262T>C (p.Met421Thr)	Combined oxidative phosphorylation defect type 14 [RCV003084811]	uncertain significance	6	5771335	5771335	Human	1	name
156391948	CV1986352	single nucleotide variant	NM_006567.5(FARS2):c.1084G>A (p.Ala362Thr)	Combined oxidative phosphorylation defect type 14 [RCV002604751]	uncertain significance	6	5613187	5613187	Human	1	name
156338081	CV1988483	single nucleotide variant	NM_006567.5(FARS2):c.1312C>A (p.Gln438Lys)	Combined oxidative phosphorylation defect type 14 [RCV002631287]	uncertain significance	6	5771385	5771385	Human	1	name
156220374	CV2025013	single nucleotide variant	NM_006567.5(FARS2):c.1271C>G (p.Thr424Ser)	Combined oxidative phosphorylation defect type 14 [RCV002712120]	uncertain significance	6	5771344	5771344	Human	1	name
156011656	CV2075659	single nucleotide variant	NM_006567.5(FARS2):c.1122G>T (p.Glu374Asp)	Combined oxidative phosphorylation defect type 14 [RCV002843906]	uncertain significance	6	5613225	5613225	Human	1	name
10411700	CV211259	single nucleotide variant	NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu)	Combined oxidative phosphorylation defect type 14 [RCV000525331]\|Combined oxidative phosphorylation defect type 14 [RCV005396583]\|FARS2-related disorder [RCV004751360]\|Hereditary spastic paraplegia 77 [RCV000578164]\|Inborn genetic diseases [RCV000622524]\|See cas ... (more) es [RCV003156085]\|not provided [RCV000200808]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	6	5613185	5613185	Human	3	name , trait , alternate_id
10410448	CV211260	single nucleotide variant	NM_006567.5(FARS2):c.1220C>T (p.Thr407Met)	Combined oxidative phosphorylation defect type 14 [RCV000691495]\|not provided [RCV000198201]	likely pathogenic\|uncertain significance	6	5771293	5771293	Human	1	name
10409959	CV211261	single nucleotide variant	NM_006567.5(FARS2):c.1255C>T (p.Arg419Cys)	Combined oxidative phosphorylation defect type 14 [RCV001378476]\|Hereditary spastic paraplegia 77 [RCV000578139]\|not provided [RCV000197201]	pathogenic\|likely pathogenic\|uncertain significance	6	5771328	5771328	Human	2	name
10410577	CV211262	single nucleotide variant	NM_006567.5(FARS2):c.1268G>A (p.Arg423Gln)	Combined oxidative phosphorylation defect type 14 [RCV000554776]\|Inborn genetic diseases [RCV002515395]\|not provided [RCV000198469]\|not specified [RCV003317145]	likely pathogenic\|uncertain significance	6	5771341	5771341	Human	2	name
155937986	CV2125855	single nucleotide variant	NM_006567.5(FARS2):c.1244G>A (p.Arg415His)	Combined oxidative phosphorylation defect type 14 [RCV002971085]	likely pathogenic\|uncertain significance	6	5771317	5771317	Human	1	name
156281539	CV2186874	single nucleotide variant	NM_006567.5(FARS2):c.1110G>A (p.Trp370Ter)	Combined oxidative phosphorylation defect type 14 [RCV003044795]	pathogenic	6	5613213	5613213	Human	1	name
156272753	CV2187506	single nucleotide variant	NM_006567.5(FARS2):c.1093A>C (p.Asn365His)	Combined oxidative phosphorylation defect type 14 [RCV003044510]	uncertain significance	6	5613196	5613196	Human	1	name
155997770	CV2287070	single nucleotide variant	NM_006567.5(FARS2):c.1235A>G (p.His412Arg)	Inborn genetic diseases [RCV002865076]	uncertain significance	6	5771308	5771308	Human	1	name
401875707	CV2750076	single nucleotide variant	NM_006567.5(FARS2):c.1345G>C (p.Gly449Arg)	Combined oxidative phosphorylation defect type 14 [RCV003333493]	uncertain significance	6	5771418	5771418	Human	1	name
405083816	CV2900078	single nucleotide variant	NM_006567.5(FARS2):c.1154T>C (p.Val385Ala)	Combined oxidative phosphorylation defect type 14 [RCV003535406]	uncertain significance	6	5613257	5613257	Human	1	name
405094293	CV2908138	single nucleotide variant	NM_006567.5(FARS2):c.1126T>C (p.Tyr376His)	Combined oxidative phosphorylation defect type 14 [RCV003536661]	uncertain significance	6	5613229	5613229	Human	1	name
405763118	CV3253107	single nucleotide variant	NM_006567.5(FARS2):c.1169G>A (p.Gly390Glu)	Inborn genetic diseases [RCV004383823]	uncertain significance	6	5613272	5613272	Human	1	name
597652349	CV3672131	single nucleotide variant	NM_006567.5(FARS2):c.1174C>G (p.Leu392Val)	Inborn genetic diseases [RCV004974862]	uncertain significance	6	5613277	5613277	Human	1	name
597652355	CV3672132	single nucleotide variant	NM_006567.5(FARS2):c.1072A>G (p.Ser358Gly)	Inborn genetic diseases [RCV004974863]	uncertain significance	6	5613175	5613175	Human	1	name
597874002	CV3805552	single nucleotide variant	NM_006567.5(FARS2):c.1087G>A (p.Val363Met)	Combined oxidative phosphorylation defect type 14 [RCV005148830]	uncertain significance	6	5613190	5613190	Human	1	name
12913281	CV421595	single nucleotide variant	NM_006567.5(FARS2):c.1256G>A (p.Arg419His)	Combined oxidative phosphorylation defect type 14 [RCV001250393]\|Hereditary spastic paraplegia 77 [RCV002509414]\|See cases [RCV003156098]\|not provided [RCV000493622]	pathogenic\|likely pathogenic	6	5771329	5771329	Human	2	name
13508870	CV481384	single nucleotide variant	NM_006567.5(FARS2):c.1163T>G (p.Ile388Ser)	Combined oxidative phosphorylation defect type 14 [RCV000578458]	likely pathogenic	6	5613266	5613266	Human	1	name
8604386	CV48425	single nucleotide variant	NM_006567.5(FARS2):c.1172A>T (p.Asp391Val)	Combined oxidative phosphorylation defect type 14 [RCV000033046]	pathogenic\|likely pathogenic	6	5613275	5613275	Human	1	name
13623059	CV521702	single nucleotide variant	NM_006567.5(FARS2):c.1009G>A (p.Glu337Lys)	Combined oxidative phosphorylation defect type 14 [RCV000650597]\|Hereditary spastic paraplegia 77 [RCV003320363]\|not provided [RCV005401554]	uncertain significance	6	5545284	5545284	Human	2	name
13623057	CV522082	single nucleotide variant	NM_006567.5(FARS2):c.1069C>T (p.Leu357Phe)	Combined oxidative phosphorylation defect type 14 [RCV000650595]\|Inborn genetic diseases [RCV003343977]\|not provided [RCV001662708]	uncertain significance	6	5613172	5613172	Human	2	name
13813740	CV563679	single nucleotide variant	NM_006567.5(FARS2):c.1267C>T (p.Arg423Trp)	Combined oxidative phosphorylation defect type 14 [RCV000690369]	uncertain significance	6	5771340	5771340	Human	1	name
13827703	CV578627	single nucleotide variant	NM_006567.5(FARS2):c.1054G>T (p.Val352Leu)	Combined oxidative phosphorylation defect type 14 [RCV000714931]	uncertain significance	6	5545329	5545329	Human	1	name
13827706	CV578631	single nucleotide variant	NM_006567.5(FARS2):c.1094A>G (p.Asn365Ser)	Combined oxidative phosphorylation defect type 14 [RCV000714934]	uncertain significance	6	5613197	5613197	Human	1	name
13827707	CV578632	single nucleotide variant	NM_006567.5(FARS2):c.1145A>G (p.Tyr382Cys)	Combined oxidative phosphorylation defect type 14 [RCV000714935]	uncertain significance	6	5613248	5613248	Human	1	name
13827713	CV578633	single nucleotide variant	NM_006567.5(FARS2):c.1156C>G (p.Arg386Gly)	Combined oxidative phosphorylation defect type 14 [RCV000714944]	conflicting interpretations of pathogenicity\|uncertain significance	6	5613259	5613259	Human	1	name
14712434	CV635011	single nucleotide variant	NM_006567.5(FARS2):c.1057A>C (p.Lys353Gln)	Combined oxidative phosphorylation defect type 14 [RCV000793798]\|FARS2-related disorder [RCV004751704]\|Hereditary spastic paraplegia 77 [RCV001329582]\|Inborn genetic diseases [RCV003258971]\|not provided [RCV004794456]	likely benign\|uncertain significance	6	5545332	5545332	Human	3	name , trait , alternate_id
14730446	CV635012	single nucleotide variant	NM_006567.5(FARS2):c.1212T>A (p.His404Gln)	Combined oxidative phosphorylation defect type 14 [RCV000817404]	uncertain significance	6	5613315	5613315	Human	1	name
15151410	CV699638	single nucleotide variant	NM_006567.5(FARS2):c.1280A>G (p.Gln427Arg)	Combined oxidative phosphorylation defect type 14 [RCV000945681]\|not provided [RCV001585876]	likely benign\|uncertain significance	6	5771353	5771353	Human	1	name
26884474	CV832075	single nucleotide variant	NM_006567.5(FARS2):c.1001G>A (p.Cys334Tyr)	Combined oxidative phosphorylation defect type 14 [RCV001042969]\|not provided [RCV001578008]	likely benign\|uncertain significance	6	5545276	5545276	Human	1	name
26910211	CV832076	single nucleotide variant	NM_006567.5(FARS2):c.1012C>T (p.Arg338Cys)	Combined oxidative phosphorylation defect type 14 [RCV001038614]\|Inborn genetic diseases [RCV004619483]	uncertain significance	6	5545287	5545287	Human	2	name
26916684	CV832077	single nucleotide variant	NM_006567.5(FARS2):c.1129G>A (p.Ala377Thr)	Combined oxidative phosphorylation defect type 14 [RCV001056496]\|Inborn genetic diseases [RCV004977947]	likely benign\|uncertain significance	6	5613232	5613232	Human	2	name
26903829	CV832078	single nucleotide variant	NM_006567.5(FARS2):c.1208T>C (p.Val403Ala)	Combined oxidative phosphorylation defect type 14 [RCV001036286]	uncertain significance	6	5613311	5613311	Human	1	name
26895774	CV832155	single nucleotide variant	NM_006567.5(FARS2):c.1250C>T (p.Thr417Met)	Combined oxidative phosphorylation defect type 14 [RCV001069736]	uncertain significance	6	5771323	5771323	Human	1	name
38488137	CV933371	single nucleotide variant	NM_006567.5(FARS2):c.1012C>A (p.Arg338Ser)	Combined oxidative phosphorylation defect type 14 [RCV001209613]	uncertain significance	6	5545287	5545287	Human	1	name
38495396	CV945075	single nucleotide variant	NM_006567.5(FARS2):c.1051A>C (p.Lys351Gln)	Combined oxidative phosphorylation defect type 14 [RCV001225688]\|not provided [RCV003313195]	likely benign\|uncertain significance	6	5545326	5545326	Human	1	name
38482417	CV945076	single nucleotide variant	NM_006567.5(FARS2):c.1084G>T (p.Ala362Ser)	Combined oxidative phosphorylation defect type 14 [RCV001235520]	uncertain significance	6	5613187	5613187	Human	1	name
38475844	CV945077	single nucleotide variant	NM_006567.5(FARS2):c.1217A>G (p.Lys406Arg)	Combined oxidative phosphorylation defect type 14 [RCV001232805]	uncertain significance	6	5613320	5613320	Human	1	name
38496284	CV954796	single nucleotide variant	NM_006567.5(FARS2):c.1243C>T (p.Arg415Cys)	Combined oxidative phosphorylation defect type 14 [RCV001242460]\|Inborn genetic diseases [RCV002564031]	uncertain significance	6	5771316	5771316	Human	2	name
38465833	CV962037	single nucleotide variant	NM_006567.5(FARS2):c.1113G>T (p.Leu371Phe)	Combined oxidative phosphorylation defect type 14 [RCV001250395]	pathogenic	6	5613216	5613216	Human	1	name
155644051	CV1708373	microsatellite	NM_006567.5(FARS2):c.821_824del (p.Ser274fs)	Combined oxidative phosphorylation defect type 14 [RCV002290362]	likely pathogenic	6	5431084	5431087	Human		name
13508652	CV481210	microsatellite	NM_006567.5(FARS2):c.515TGG[2] (p.Val174del)	Combined oxidative phosphorylation defect type 14 [RCV001341117]\|Hereditary spastic paraplegia 77 [RCV000578192]	pathogenic\|uncertain significance	6	5369085	5369087	Human		name
13521531	CV495529	deletion	NM_006567.5(FARS2):c.946_950del (p.Leu316fs)	Combined oxidative phosphorylation defect type 14 [RCV001385178]\|not provided [RCV000599526]	pathogenic\|likely pathogenic	6	5545219	5545223	Human	1	name
155794400	CV1858522	deletion	NM_006567.5(FARS2):c.1218-32980_1218-32942del	Schizophrenia [RCV002463484]	uncertain significance	6	5738311	5738349	Human	2	name
38465830	CV962038	duplication	NM_006567.5(FARS2):c.1269_1276dup (p.Ser426Ter)	Combined oxidative phosphorylation defect type 14 [RCV001250394]	pathogenic\|likely pathogenic	6	5771341	5771342	Human	1	name
151737432	CV1380188	deletion	NM_006567.5(FARS2):c.877del (p.Gly292_Val293insTer)	Combined oxidative phosphorylation defect type 14 [RCV001946748]	pathogenic	6	5431142	5431142	Human	1	name
598125934	CV3883362	deletion	NM_006567.5(FARS2):c.358_363del (p.Val120_Thr121del)	Combined oxidative phosphorylation defect type 14 [RCV005233233]	likely pathogenic	6	5368927	5368932	Human	1	name
156156822	CV1928136	deletion	NM_006567.5(FARS2):c.1168_1173del (p.Gly390_Asp391del)	Combined oxidative phosphorylation defect type 14 [RCV002664095]\|not specified [RCV004783026]	uncertain significance	6	5613271	5613276	Human	1	name
13623060	CV522083	indel	NM_006567.5(FARS2):c.1109_1111delinsAACCAGAATGAA (p.Trp370_Leu371delinsTer)	Combined oxidative phosphorylation defect type 14 [RCV000650598]	pathogenic\|uncertain significance	6	5613212	5613214	Human		name
405000184	CV2852657	deletion	NC_000006.11:g.(?_5261745)_(5545574_5613401)del	FARS2-related disorder [RCV004554237]	pathogenic				Human		trait , alternate_id

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