Dars2 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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463 records found for search term Dars2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11647959	CV277661	single nucleotide variant	NM_018122.5(DARS2):c.*653T>G	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000279457]	uncertain significance	1	173858358	173858358	Human	1	name
11661307	CV278545	single nucleotide variant	NM_018122.5(DARS2):c.-522G>C	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000375256]	uncertain significance	1	173824708	173824708	Human	1	name
11595986	CV278547	single nucleotide variant	NM_018122.5(DARS2):c.*168C>T	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000377209]	uncertain significance	1	173857873	173857873	Human	1	name
11595518	CV278552	single nucleotide variant	NM_018122.5(DARS2):c.*642C>A	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000371574]	likely benign	1	173858347	173858347	Human	1	name
11590370	CV278574	single nucleotide variant	NM_018122.5(DARS2):c.-533G>A	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000318314]	uncertain significance	1	173824697	173824697	Human	1	name
11583437	CV278591	single nucleotide variant	NM_018122.5(DARS2):c.*210T>C	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000266536]\|not provided [RCV001711876]	benign	1	173857915	173857915	Human	1	name
11655186	CV278592	single nucleotide variant	NM_018122.5(DARS2):c.*431G>A	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000324035]	uncertain significance	1	173858136	173858136	Human	1	name
28883893	CV862827	single nucleotide variant	NM_018122.5(DARS2):c.-543C>T	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV001097639]	uncertain significance	1	173824687	173824687	Human	1	name
28883898	CV862828	single nucleotide variant	NM_018122.5(DARS2):c.-488G>C	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV001097640]	uncertain significance	1	173824742	173824742	Human	1	name
28883901	CV862829	single nucleotide variant	NM_018122.5(DARS2):c.-219C>T	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV001097641]	uncertain significance	1	173825011	173825011	Human	1	name
28883905	CV862830	single nucleotide variant	NM_018122.5(DARS2):c.-147A>G	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV001097642]	uncertain significance	1	173825083	173825083	Human	1	name
28878878	CV862835	single nucleotide variant	NM_018122.5(DARS2):c.*152A>C	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV001096048]	uncertain significance	1	173857857	173857857	Human	1	name
28878882	CV862836	single nucleotide variant	NM_018122.5(DARS2):c.*587G>A	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV001096049]	uncertain significance	1	173858292	173858292	Human	1	name
28878887	CV862837	single nucleotide variant	NM_018122.5(DARS2):c.*644G>A	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV001096050]	uncertain significance	1	173858349	173858349	Human	1	name
150536638	CV1312503	single nucleotide variant	NM_018122.5(DARS2):c.128-1G>T	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV001780608]	pathogenic\|likely pathogenic	1	173826686	173826686	Human	1	name
8690814	CV140768	single nucleotide variant	NM_018122.5(DARS2):c.663+8T>C	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000339409]\|not provided [RCV000676395]\|not specified [RCV000124654]	benign\|likely benign	1	173834527	173834527	Human	1	name
8690820	CV140774	single nucleotide variant	NM_018122.5(DARS2):c.397-6T>G	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000296248]\|not provided [RCV000676392]\|not specified [RCV000124660]	benign\|uncertain significance	1	173831529	173831529	Human	1	name
8690821	CV140775	single nucleotide variant	NM_018122.5(DARS2):c.493-3T>C	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000345288]\|not provided [RCV000961324]\|not specified [RCV000124661]	benign\|likely benign	1	173833373	173833373	Human	1	name
151803997	CV1424735	single nucleotide variant	NM_018122.5(DARS2):c.397-7C>G	not provided [RCV001867383]	likely benign\|uncertain significance	1	173831528	173831528	Human		name
152050441	CV1527769	single nucleotide variant	NM_018122.5(DARS2):c.397-5C>T	not provided [RCV002089086]	likely benign	1	173831530	173831530	Human		name
152080912	CV1546635	single nucleotide variant	NM_018122.5(DARS2):c.841-9T>C	not provided [RCV002130803]	likely benign	1	173839358	173839358	Human		name
8595292	CV16101	single nucleotide variant	NM_018122.5(DARS2):c.492+2T>C	Clubfoot [RCV000626946]\|Dysmetria [RCV000415333]\|Inborn genetic diseases [RCV002512635]\|Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000001117]\|not provided [RCV000255444]	pathogenic\|likely pathogenic	1	173831632	173831632	Human	21	name
155716427	CV1780489	single nucleotide variant	NM_018122.5(DARS2):c.397-2A>G	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005254056]\|not provided [RCV002306094]	pathogenic\|likely pathogenic	1	173831533	173831533	Human	1	name
156418640	CV1922432	single nucleotide variant	NM_018122.5(DARS2):c.492+4C>T	not provided [RCV002611839]	uncertain significance	1	173831634	173831634	Human		name
156369363	CV2007589	single nucleotide variant	NM_018122.5(DARS2):c.295-9G>T	not provided [RCV002676786]	likely benign	1	173830651	173830651	Human		name
156108542	CV2072496	single nucleotide variant	NM_018122.5(DARS2):c.841-7G>A	not provided [RCV002870805]	likely benign	1	173839360	173839360	Human		name
11060098	CV226868	single nucleotide variant	NM_018122.5(DARS2):c.127+1G>A	Inborn genetic diseases [RCV000210734]\|Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005252814]	pathogenic\|uncertain significance	1	173825357	173825357	Human	2	name
11578956	CV277455	single nucleotide variant	NM_018122.5(DARS2):c.128-5T>A	DARS2-related disorder [RCV003910064]\|Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000292593]\|not provided [RCV002059358]\|not specified [RCV000607351]	benign\|likely benign	1	173826682	173826682	Human	1	name , trait , alternate_id
402480276	CV3033266	duplication	NM_018122.5(DARS2):c.228-9dup	not provided [RCV003712743]	likely benign	1	173828323	173828324	Human		name
405159903	CV3152667	single nucleotide variant	NM_018122.5(DARS2):c.128-7T>A	not provided [RCV003840594]	likely benign	1	173826680	173826680	Human		name
12834273	CV364690	single nucleotide variant	NM_018122.5(DARS2):c.128-4A>T	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV001099404]\|not provided [RCV000881319]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	173826683	173826683	Human	1	name
597669904	CV3707143	single nucleotide variant	NM_018122.5(DARS2):c.294+2T>A	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005004769]	likely pathogenic	1	173828401	173828401	Human	1	name
598225840	CV3892955	single nucleotide variant	NM_018122.5(DARS2):c.492+1G>A	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005255282]	likely pathogenic	1	173831631	173831631	Human	1	name
598225846	CV3892956	single nucleotide variant	NM_018122.5(DARS2):c.492+2T>A	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005255283]	likely pathogenic	1	173831632	173831632	Human	1	name
598225852	CV3892957	single nucleotide variant	NM_018122.5(DARS2):c.492+2T>G	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005255284]	likely pathogenic	1	173831632	173831632	Human	1	name
13483757	CV442667	single nucleotide variant	NM_018122.5(DARS2):c.396+2T>G	Inborn genetic diseases [RCV002527573]\|Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000763274]\|not provided [RCV000522142]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	173830763	173830763	Human	2	name
13788619	CV549861	deletion	NM_018122.5(DARS2):c.128-5del	not provided [RCV000676382]	benign	1	173826666	173826666	Human		name
13788623	CV549862	duplication	NM_018122.5(DARS2):c.128-5dup	not provided [RCV000676383]	benign	1	173826665	173826666	Human		name
8629093	CV84237	single nucleotide variant	NM_018122.4(DARS2):c.128-1G>A	Malignant melanoma [RCV000064319]	not provided	1	173826686	173826686	Human		name
28877779	CV861604	single nucleotide variant	NM_018122.5(DARS2):c.493-1G>C	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV001095703]\|See cases [RCV002252316]	likely pathogenic	1	173833375	173833375	Human	1	name
150333135	CV1164069	single nucleotide variant	NM_018122.5(DARS2):c.228-16C>G	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005253851]\|not provided [RCV001528703]	uncertain significance	1	173828317	173828317	Human	1	name
150334820	CV1170626	single nucleotide variant	NM_018122.5(DARS2):c.228-16C>A	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV002246416]\|not provided [RCV001540255]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	173828317	173828317	Human	1	name
150422646	CV1179144	single nucleotide variant	NM_018122.5(DARS2):c.128-21T>C	not provided [RCV001552920]	likely benign	1	173826666	173826666	Human		name
150405427	CV1189511	single nucleotide variant	NM_018122.5(DARS2):c.228-15C>A	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005253862]\|not provided [RCV001564279]	pathogenic\|likely pathogenic	1	173828318	173828318	Human	1	name
150421463	CV1196502	single nucleotide variant	NM_018122.5(DARS2):c.228-14C>G	not provided [RCV001578047]	conflicting interpretations of pathogenicity\|uncertain significance	1	173828319	173828319	Human		name
150420544	CV1196503	single nucleotide variant	NM_018122.5(DARS2):c.841-40T>C	not provided [RCV001577659]	likely benign	1	173839327	173839327	Human		name
150433403	CV1203663	single nucleotide variant	NM_018122.5(DARS2):c.228-12C>A	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV003346630]\|not provided [RCV001581819]	uncertain significance	1	173828321	173828321	Human	1	name
150463507	CV1206742	duplication	NM_018122.5(DARS2):c.127+88dup	not provided [RCV001587143]	likely benign	1	173825438	173825439	Human		name
150468122	CV1207369	single nucleotide variant	NM_018122.5(DARS2):c.396+57G>C	not provided [RCV001588058]	likely benign	1	173830818	173830818	Human		name
150500335	CV1212193	single nucleotide variant	NM_018122.5(DARS2):c.397-42C>T	not provided [RCV001594547]	likely benign	1	173831493	173831493	Human		name
150508474	CV1214054	single nucleotide variant	NM_018122.5(DARS2):c.127+27A>G	not provided [RCV001596575]	likely benign	1	173825383	173825383	Human		name
150488308	CV1226038	deletion	NM_018122.5(DARS2):c.493-77del	not provided [RCV001618199]	benign	1	173833296	173833296	Human		name
150517038	CV1227775	single nucleotide variant	NM_018122.5(DARS2):c.227+28G>T	not provided [RCV001639578]	benign	1	173826814	173826814	Human		name
150459858	CV1231242	single nucleotide variant	NM_018122.5(DARS2):c.227+29C>T	not provided [RCV001640806]	benign	1	173826815	173826815	Human		name
8690817	CV140771	single nucleotide variant	NM_018122.5(DARS2):c.228-20T>C	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV003343652]\|not provided [RCV000676388]\|not specified [RCV000124657]	benign	1	173828313	173828313	Human	1	name
8690818	CV140772	single nucleotide variant	NM_018122.5(DARS2):c.228-19C>T	not provided [RCV003764854]\|not specified [RCV000124658]	benign\|likely benign	1	173828314	173828314	Human		name
8690819	CV140773	single nucleotide variant	NM_018122.5(DARS2):c.228-12C>G	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000331247]\|not provided [RCV000676389]	benign	1	173828321	173828321	Human	1	name
152045808	CV1525769	single nucleotide variant	NM_018122.5(DARS2):c.770+19A>G	not provided [RCV002126638]	likely benign	1	173837065	173837065	Human		name
152102565	CV1560317	single nucleotide variant	NM_018122.5(DARS2):c.493-16C>T	not provided [RCV002151986]	likely benign	1	173833360	173833360	Human		name
152126684	CV1582381	single nucleotide variant	NM_018122.5(DARS2):c.128-17T>C	not provided [RCV002198770]	likely benign	1	173826670	173826670	Human		name
152072596	CV1597816	single nucleotide variant	NM_018122.5(DARS2):c.228-17C>A	not provided [RCV002169490]	likely benign	1	173828316	173828316	Human		name
152034880	CV1603999	single nucleotide variant	NM_018122.5(DARS2):c.228-18C>G	not provided [RCV002087048]	likely benign	1	173828315	173828315	Human		name
598166594	CV1859345	single nucleotide variant	NM_018122.5(DARS2):c.228-10C>A	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005254102]	uncertain significance	1	173828323	173828323	Human	1	name
156150779	CV1960931	single nucleotide variant	NM_018122.5(DARS2):c.228-18C>T	not provided [RCV002572892]	likely benign	1	173828315	173828315	Human		name
156406414	CV1963611	single nucleotide variant	NM_018122.5(DARS2):c.493-12C>T	not provided [RCV002585901]	likely benign	1	173833364	173833364	Human		name
156382535	CV1975159	single nucleotide variant	NM_018122.5(DARS2):c.228-11C>A	not provided [RCV002604068]	likely benign	1	173828322	173828322	Human		name
156392350	CV1986401	single nucleotide variant	NM_018122.5(DARS2):c.663+14T>C	not provided [RCV002604789]	likely benign	1	173834533	173834533	Human		name
156335175	CV2000948	single nucleotide variant	NM_018122.5(DARS2):c.128-16T>C	not provided [RCV002650034]	likely benign	1	173826671	173826671	Human		name
155991770	CV2066846	single nucleotide variant	NM_018122.5(DARS2):c.663+19T>C	not provided [RCV002842989]	likely benign	1	173834538	173834538	Human		name
155912655	CV2069694	single nucleotide variant	NM_018122.5(DARS2):c.771-19T>C	not provided [RCV002837828]	likely benign	1	173838171	173838171	Human		name
155977929	CV2073195	single nucleotide variant	NM_018122.5(DARS2):c.840+13A>G	not provided [RCV002842379]	likely benign	1	173838272	173838272	Human		name
156025718	CV2139164	single nucleotide variant	NM_018122.5(DARS2):c.1345-5T>G	not provided [RCV002998908]	uncertain significance	1	173853344	173853344	Human		name
156024950	CV2185482	single nucleotide variant	NM_018122.5(DARS2):c.228-11C>T	not provided [RCV003035918]	likely benign	1	173828322	173828322	Human		name
402494265	CV2874355	single nucleotide variant	NM_018122.5(DARS2):c.616+16G>A	not provided [RCV003545229]	likely benign	1	173833515	173833515	Human		name
405205057	CV2915426	single nucleotide variant	NM_018122.5(DARS2):c.128-19T>C	not provided [RCV003566287]	likely benign	1	173826668	173826668	Human		name
404990191	CV2998644	single nucleotide variant	NM_018122.5(DARS2):c.396+18T>C	not provided [RCV003692119]	likely benign	1	173830779	173830779	Human		name
405192650	CV3118086	single nucleotide variant	NM_018122.5(DARS2):c.228-21T>C	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV004699139]\|not provided [RCV003820996]	likely benign\|uncertain significance	1	173828312	173828312	Human	1	name
405216832	CV3124652	single nucleotide variant	NM_018122.5(DARS2):c.128-18T>C	not provided [RCV003824014]	likely benign	1	173826669	173826669	Human		name
405174399	CV3150547	duplication	NM_018122.5(DARS2):c.295-12dup	not provided [RCV003841821]	benign	1	173830643	173830644	Human		name
405164659	CV3153288	single nucleotide variant	NM_018122.5(DARS2):c.396+20T>A	not provided [RCV003841023]	likely benign	1	173830781	173830781	Human		name
404979810	CV3183264	single nucleotide variant	NM_018122.5(DARS2):c.295-11T>G	not provided [RCV003880287]	likely benign	1	173830649	173830649	Human		name
597831746	CV3740077	single nucleotide variant	NM_018122.5(DARS2):c.127+20C>A	not provided [RCV005062776]	likely benign	1	173825376	173825376	Human		name
598227777	CV3892951	single nucleotide variant	NM_018122.5(DARS2):c.228-15C>G	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005255278]	likely pathogenic	1	173828318	173828318	Human	1	name
598225818	CV3892952	single nucleotide variant	NM_018122.5(DARS2):c.228-11C>G	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005255279]	likely pathogenic	1	173828322	173828322	Human	1	name
598227784	CV3892967	single nucleotide variant	NM_018122.5(DARS2):c.1192-2A>G	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005255294]	uncertain significance	1	173850325	173850325	Human	1	name
8568639	CV39819	single nucleotide variant	NM_018122.5(DARS2):c.228-22T>A	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000023847]	pathogenic\|likely pathogenic	1	173828311	173828311	Human	1	name
12901037	CV404983	duplication	NM_018122.5(DARS2):c.228-20dup	not provided [RCV000676387]	benign\|likely benign	1	173828309	173828310	Human		name
12899409	CV404984	deletion	NM_018122.5(DARS2):c.228-10del	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV003343852]\|not provided [RCV000676390]	benign\|likely benign	1	173828314	173828314	Human	1	name
12902045	CV404985	duplication	NM_018122.5(DARS2):c.228-10dup	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV002489143]\|not provided [RCV000676391]	benign\|likely benign	1	173828313	173828314	Human	1	name
13535887	CV498129	single nucleotide variant	NM_018122.5(DARS2):c.228-15C>T	not provided [RCV003767519]\|not specified [RCV000608194]	likely benign	1	173828318	173828318	Human		name
13788606	CV549857	deletion	NM_018122.5(DARS2):c.128-22del	not provided [RCV000676378]	benign	1	173826665	173826665	Human		name
13788632	CV549865	deletion	NM_018122.5(DARS2):c.228-20del	not provided [RCV000676386]	benign\|likely benign	1	173828310	173828310	Human		name
14693409	CV620708	single nucleotide variant	NM_018122.5(DARS2):c.1191+1G>C	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000778951]	uncertain significance	1	173845292	173845292	Human		name
21070512	CV789884	single nucleotide variant	NM_018122.5(DARS2):c.228-17C>G	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000986463]\|not provided [RCV003769293]	likely pathogenic\|likely benign	1	173828316	173828316	Human	1	name
21072138	CV794497	single nucleotide variant	NM_018122.5(DARS2):c.1020+6T>G	not provided [RCV000994195]	uncertain significance	1	173839552	173839552	Human		name
21072143	CV794498	single nucleotide variant	NM_018122.5(DARS2):c.1563+5C>T	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV003346248]\|not provided [RCV000994196]	uncertain significance	1	173853572	173853572	Human	1	name
28889358	CV865038	single nucleotide variant	NM_018122.5(DARS2):c.228-13C>G	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV001099405]\|not provided [RCV002556014]	likely benign\|uncertain significance	1	173828320	173828320	Human	1	name
28889361	CV865039	single nucleotide variant	NM_018122.5(DARS2):c.228-10C>G	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV001099406]\|not provided [RCV001732042]	conflicting interpretations of pathogenicity\|uncertain significance	1	173828323	173828323	Human	1	name
28889365	CV865040	single nucleotide variant	NM_018122.5(DARS2):c.228-10C>T	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV001099407]\|not provided [RCV002558002]	likely benign\|uncertain significance	1	173828323	173828323	Human	1	name
150336860	CV1170627	duplication	NM_018122.5(DARS2):c.663+279dup	not provided [RCV001541237]	benign	1	173834782	173834783	Human		name
150415686	CV1196504	single nucleotide variant	NM_018122.5(DARS2):c.1128+59C>T	not provided [RCV001575511]	likely benign	1	173841032	173841032	Human		name
150513720	CV1213836	deletion	NM_018122.5(DARS2):c.770+242del	not provided [RCV001598572]	likely benign	1	173837273	173837273	Human		name
150441288	CV1220294	deletion	NM_018122.5(DARS2):c.663+279del	not provided [RCV001610278]	benign	1	173834783	173834783	Human		name
150439296	CV1221290	single nucleotide variant	NM_018122.5(DARS2):c.663+226T>A	not provided [RCV001609984]	benign	1	173834745	173834745	Human		name
150463563	CV1253821	single nucleotide variant	NM_018122.5(DARS2):c.493-306C>T	not provided [RCV001669863]	benign	1	173833070	173833070	Human		name
150479534	CV1258269	single nucleotide variant	NM_018122.5(DARS2):c.663+226T>C	not provided [RCV001685688]	benign	1	173834745	173834745	Human		name
150451352	CV1261535	single nucleotide variant	NM_018122.5(DARS2):c.1750+40T>C	not provided [RCV001680737]	benign	1	173856781	173856781	Human		name
150456705	CV1269112	duplication	NM_018122.5(DARS2):c.1192-29dup	not provided [RCV001692936]	benign	1	173850283	173850284	Human		name
150476518	CV1271347	single nucleotide variant	NM_018122.5(DARS2):c.1021-48A>G	not provided [RCV001696170]	benign	1	173840818	173840818	Human		name
150473807	CV1272231	deletion	NM_018122.5(DARS2):c.840+165del	not provided [RCV001695769]	benign	1	173838415	173838415	Human		name
150473812	CV1272232	single nucleotide variant	NM_018122.5(DARS2):c.663+263G>T	not provided [RCV001695770]	benign	1	173834782	173834782	Human		name
150489607	CV1279129	duplication	NM_018122.5(DARS2):c.770+242dup	not provided [RCV001716326]	benign	1	173837272	173837273	Human		name
8690816	CV140770	single nucleotide variant	NM_018122.5(DARS2):c.1750+19T>G	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV003343651]\|not provided [RCV000676400]\|not specified [RCV000124656]	benign	1	173856760	173856760	Human	1	name
152036970	CV1524803	single nucleotide variant	NM_018122.5(DARS2):c.1344+17C>A	not provided [RCV002165109]	likely benign	1	173850496	173850496	Human		name
152148286	CV1528822	single nucleotide variant	NM_018122.5(DARS2):c.1563+12A>G	not provided [RCV002101823]	likely benign	1	173853579	173853579	Human		name
152142055	CV1586462	deletion	NM_018122.5(DARS2):c.1129-11del	not provided [RCV002178187]	benign	1	173845214	173845214	Human		name
156304949	CV1966215	single nucleotide variant	NM_018122.5(DARS2):c.1751-18T>C	not provided [RCV002578403]	likely benign	1	173857500	173857500	Human		name
156383221	CV1979480	single nucleotide variant	NM_018122.5(DARS2):c.1345-15G>A	not provided [RCV002634431]	likely benign	1	173853334	173853334	Human		name
155939830	CV1995965	single nucleotide variant	NM_018122.5(DARS2):c.1129-16A>C	not provided [RCV002685388]	likely benign	1	173845213	173845213	Human		name
156217964	CV2111116	single nucleotide variant	NM_018122.5(DARS2):c.1344+12T>C	not provided [RCV002932340]	likely benign	1	173850491	173850491	Human		name
156378219	CV2121599	single nucleotide variant	NM_018122.5(DARS2):c.1021-10C>T	not provided [RCV002942929]	likely benign	1	173840856	173840856	Human		name
156029958	CV2135417	single nucleotide variant	NM_018122.5(DARS2):c.1674+10A>G	not provided [RCV002999099]	likely benign	1	173853915	173853915	Human		name
155947016	CV2150898	single nucleotide variant	NM_018122.5(DARS2):c.1674+11T>A	not provided [RCV003014627]	likely benign	1	173853916	173853916	Human		name
11579575	CV277462	single nucleotide variant	NM_018122.5(DARS2):c.1750+11T>C	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000307251]\|not provided [RCV002519413]	likely benign\|uncertain significance	1	173856752	173856752	Human	1	name
402523183	CV2867603	single nucleotide variant	NM_018122.5(DARS2):c.1021-16G>T	not provided [RCV003547894]	likely benign	1	173840850	173840850	Human		name
405015655	CV3139024	single nucleotide variant	NM_018122.5(DARS2):c.1192-20A>G	not provided [RCV003829361]	likely benign	1	173850307	173850307	Human		name
12839360	CV364695	single nucleotide variant	NM_018122.5(DARS2):c.1345-16C>T	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV003343809]\|not provided [RCV002058895]\|not specified [RCV000428671]	likely benign	1	173853333	173853333	Human	1	name
597830604	CV3743141	single nucleotide variant	NM_018122.5(DARS2):c.1674+17G>A	not provided [RCV005062149]	likely benign	1	173853922	173853922	Human		name
597879297	CV3744498	single nucleotide variant	NM_018122.5(DARS2):c.1345-18T>A	not provided [RCV005069712]	likely benign	1	173853331	173853331	Human		name
13539305	CV498138	single nucleotide variant	NM_018122.5(DARS2):c.1564-13G>A	not specified [RCV000613101]	likely benign	1	173853782	173853782	Human		name
13788658	CV549870	single nucleotide variant	NM_018122.5(DARS2):c.1192-28C>A	not provided [RCV000676398]	likely benign	1	173850299	173850299	Human		name
13788662	CV549871	deletion	NM_018122.5(DARS2):c.1192-28del	not provided [RCV000676399]	likely benign	1	173850299	173850299	Human		name
14745907	CV657163	single nucleotide variant	NM_018122.5(DARS2):c.294+215A>G	not provided [RCV000843876]	benign	1	173828614	173828614	Human		name
14712847	CV657179	single nucleotide variant	NM_018122.5(DARS2):c.127+303C>T	not provided [RCV000828552]	benign	1	173825659	173825659	Human		name
14724402	CV657182	single nucleotide variant	NM_018122.5(DARS2):c.396+312C>T	not provided [RCV000832966]	benign	1	173831073	173831073	Human		name
14721866	CV657195	single nucleotide variant	NM_018122.5(DARS2):c.127+172G>T	not provided [RCV000831856]	likely benign	1	173825528	173825528	Human		name
14745905	CV657197	single nucleotide variant	NM_018122.5(DARS2):c.227+245A>G	not provided [RCV000843874]	benign	1	173827031	173827031	Human		name
14724399	CV657199	single nucleotide variant	NM_018122.5(DARS2):c.228-245T>C	not provided [RCV000832965]	benign	1	173828088	173828088	Human		name
14745913	CV657200	single nucleotide variant	NM_018122.5(DARS2):c.771-171C>T	not provided [RCV000843882]	benign	1	173838019	173838019	Human		name
150426639	CV1186079	single nucleotide variant	NM_018122.5(DARS2):c.1192-308G>A	not provided [RCV001559831]	likely benign	1	173850019	173850019	Human		name
150412045	CV1189513	deletion	NM_018122.5(DARS2):c.1344+142del	not provided [RCV001566809]	likely benign	1	173850606	173850606	Human		name
150421765	CV1192737	deletion	NM_018122.5(DARS2):c.1129-263del	not provided [RCV001570682]	likely benign	1	173844966	173844966	Human		name
150478607	CV1207693	single nucleotide variant	NM_018122.5(DARS2):c.1674+127C>G	not provided [RCV001589969]	likely benign	1	173854032	173854032	Human		name
150443057	CV1287826	duplication	NM_018122.5(DARS2):c.1344+142dup	not provided [RCV001725547]	benign	1	173850605	173850606	Human		name
14723917	CV657167	single nucleotide variant	NM_018122.5(DARS2):c.1128+128A>G	not provided [RCV000832750]	benign	1	173841101	173841101	Human		name
14730620	CV657169	single nucleotide variant	NM_018122.5(DARS2):c.1675-137A>G	not provided [RCV000835765]	benign	1	173856529	173856529	Human		name
14730617	CV657180	single nucleotide variant	NM_018122.5(DARS2):c.1129-143C>T	not provided [RCV000835764]	benign	1	173845086	173845086	Human		name
14719523	CV657186	single nucleotide variant	NM_018122.5(DARS2):c.1129-109T>C	not provided [RCV000830816]	benign	1	173845120	173845120	Human		name
14724406	CV657190	single nucleotide variant	NM_018122.5(DARS2):c.1344+294T>A	not provided [RCV000832968]	benign	1	173850773	173850773	Human		name
14730301	CV657192	single nucleotide variant	NM_018122.5(DARS2):c.1675-112T>G	not provided [RCV000835614]	benign	1	173856554	173856554	Human	7	name
14730301	CV657192	single nucleotide variant	NM_018122.5(DARS2):c.1675-112T>G	not provided [RCV000835614]	benign	1	173856554	173856555	Human	7	name
14712850	CV657206	single nucleotide variant	NM_018122.5(DARS2):c.1345-266A>G	not provided [RCV000828553]	benign	1	173853083	173853083	Human		name
150511037	CV1210661	microsatellite	NM_018122.5(DARS2):c.127+94ATT[9]	not provided [RCV001597840]	benign	1	173825450	173825458	Human		name
150330988	CV1168794	microsatellite	NM_018122.5(DARS2):c.127+94ATT[14]	not provided [RCV001536261]	benign	1	173825449	173825450	Human		name
150505606	CV1213568	microsatellite	NM_018122.5(DARS2):c.127+94ATT[16]	not provided [RCV001595824]	benign	1	173825449	173825450	Human		name
150475716	CV1216706	microsatellite	NM_018122.5(DARS2):c.127+94ATT[13]	not provided [RCV001615999]	benign	1	173825449	173825450	Human		name
150455775	CV1236789	microsatellite	NM_018122.5(DARS2):c.127+94ATT[15]	not provided [RCV001648525]	benign	1	173825449	173825450	Human		name
21070510	CV789883	microsatellite	NM_018122.5(DARS2):c.127+94ATT[10]	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000986462]\|not provided [RCV001712833]	benign	1	173825450	173825455	Human		name
401739326	CV2738534	deletion	NM_018122.5(DARS2):c.294+2_294+7del	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV003317926]	likely pathogenic	1	173828400	173828405	Human	1	name
405224085	CV2887672	microsatellite	NM_018122.5(DARS2):c.397-6_397-5del	DARS2-related disorder [RCV003939090]\|not provided [RCV003554362]	likely benign	1	173831526	173831527	Human		name , trait , alternate_id
13529149	CV498284	indel	NM_018122.5(DARS2):c.228-20delinsCC	not specified [RCV000605642]	likely benign	1	173828313	173828313	Human		name
13788610	CV549858	duplication	NM_018122.5(DARS2):c.128-7_128-5dup	not provided [RCV000676379]	benign\|likely benign	1	173826665	173826666	Human		name
13788613	CV549859	deletion	NM_018122.5(DARS2):c.128-6_128-5del	not provided [RCV000676380]	likely benign	1	173826666	173826667	Human		name
13788615	CV549860	duplication	NM_018122.5(DARS2):c.128-6_128-5dup	not provided [RCV000676381]	benign\|likely benign	1	173826665	173826666	Human		name
156307713	CV2079902	duplication	NM_018122.5(DARS2):c.294+6_294+12dup	not provided [RCV002857490]	likely benign	1	173828401	173828402	Human		name
151841095	CV1428504	single nucleotide variant	NM_018122.5(DARS2):c.6C>G (p.Tyr2Ter)	not provided [RCV001994754]	pathogenic	1	173825235	173825235	Human		name
152074471	CV1557590	duplication	NM_018122.5(DARS2):c.228-11_228-10dup	not provided [RCV002130031]	benign	1	173828313	173828314	Human		name
156386152	CV1961266	microsatellite	NM_018122.5(DARS2):c.397-16_397-13del	not provided [RCV002583501]	likely benign	1	173831514	173831517	Human		name
156227417	CV2048407	deletion	NM_018122.5(DARS2):c.127+24_127+28del	not provided [RCV002790865]	likely benign	1	173825376	173825380	Human		name
156011859	CV2079901	deletion	NM_018122.5(DARS2):c.228-20_228-18del	not provided [RCV002866149]	likely benign	1	173828313	173828315	Human		name
401759184	CV2705427	single nucleotide variant	NM_018122.5(DARS2):c.8T>G (p.Phe3Cys)	Inborn genetic diseases [RCV003256784]	uncertain significance	1	173825237	173825237	Human	1	name
405161508	CV3062592	single nucleotide variant	NM_018122.5(DARS2):c.84T>C (p.Ser28=)	not provided [RCV003727132]	likely benign	1	173825313	173825313	Human		name
405125916	CV3136492	single nucleotide variant	NM_018122.5(DARS2):c.72G>T (p.Pro24=)	not provided [RCV003837823]	likely benign	1	173825301	173825301	Human		name
597833877	CV3735115	single nucleotide variant	NM_018122.5(DARS2):c.54C>T (p.Ile18=)	not provided [RCV005054848]	uncertain significance	1	173825283	173825283	Human		name
598227529	CV3892948	single nucleotide variant	NM_018122.5(DARS2):c.1A>C (p.Met1Leu)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005255275]	likely pathogenic	1	173825230	173825230	Human	1	name
598251702	CV3963423	duplication	NM_018122.5(DARS2):c.1128+3_1128+6dup	Inborn genetic diseases [RCV005323113]	uncertain significance	1	173840972	173840973	Human	1	name
12901387	CV404987	deletion	NM_018122.5(DARS2):c.664-17_664-14del	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV003343854]\|not provided [RCV002525908]\|not specified [RCV000484551]	likely benign	1	173836920	173836923	Human	1	name
152137981	CV1603834	single nucleotide variant	NM_018122.5(DARS2):c.201C>T (p.Thr67=)	not provided [RCV002218982]	likely benign	1	173826760	173826760	Human		name
156335406	CV2000972	insertion	NM_018122.5(DARS2):c.228-12_228-11insA	not provided [RCV002650044]	likely benign	1	173828321	173828322	Human		name
156153912	CV2209481	single nucleotide variant	NM_018122.5(DARS2):c.11C>G (p.Pro4Arg)	Inborn genetic diseases [RCV002697818]	uncertain significance	1	173825240	173825240	Human	1	name
11581866	CV278577	single nucleotide variant	NM_018122.5(DARS2):c.261T>C (p.Asp87=)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000388121]\|not provided [RCV000935848]	benign\|likely benign\|uncertain significance	1	173828366	173828366	Human	1	name
597901557	CV3838911	insertion	NM_018122.5(DARS2):c.228-10_228-9insCA	not provided [RCV005176207]	likely benign	1	173828323	173828324	Human		name
598225826	CV3892953	single nucleotide variant	NM_018122.5(DARS2):c.258C>T (p.Phe86=)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005255280]	likely pathogenic	1	173828363	173828363	Human	1	name
598225932	CV3892968	deletion	NM_018122.5(DARS2):c.1345-17_1345-5del	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005255295]	uncertain significance	1	173853327	173853339	Human	1	name
13528958	CV513498	single nucleotide variant	NM_018122.5(DARS2):c.20T>A (p.Leu7Ter)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000626171]	pathogenic	1	173825249	173825249	Human	1	name
13788629	CV549864	insertion	NM_018122.5(DARS2):c.228-21_228-20insC	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV003343985]\|not provided [RCV000676385]	benign\|likely benign	1	173828312	173828313	Human	1	name
15122451	CV706881	single nucleotide variant	NM_018122.5(DARS2):c.111A>G (p.Ser37=)	not provided [RCV000963076]	likely benign	1	173825340	173825340	Human		name
15115745	CV780379	single nucleotide variant	NM_018122.5(DARS2):c.184T>C (p.Leu62=)	not provided [RCV000978466]	likely benign	1	173826743	173826743	Human		name
150447395	CV1015160	deletion	NM_018122.5(DARS2):c.233del (p.Asn78fs)	Spastic ataxia [RCV001647159]	pathogenic	1	173828335	173828335	Human	2	name
126740010	CV1019231	single nucleotide variant	NM_018122.5(DARS2):c.57A>C (p.Arg19Ser)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV001335893]	uncertain significance	1	173825286	173825286	Human	1	name
127286946	CV1151863	single nucleotide variant	NM_018122.5(DARS2):c.29T>C (p.Leu10Pro)	not provided [RCV001507504]	uncertain significance	1	173825258	173825258	Human		name
151747176	CV1352831	single nucleotide variant	NM_018122.5(DARS2):c.91A>G (p.Arg31Gly)	Inborn genetic diseases [RCV002555255]\|Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV003348591]\|not provided [RCV001912566]	uncertain significance	1	173825320	173825320	Human	2	name
152085094	CV1645150	deletion	NM_018122.5(DARS2):c.1128+20_1128+21del	not provided [RCV002131326]	likely benign	1	173840992	173840993	Human		name
156102928	CV1907239	single nucleotide variant	NM_018122.5(DARS2):c.765A>G (p.Leu255=)	not provided [RCV003080673]	likely benign	1	173837041	173837041	Human		name
156407184	CV1918020	single nucleotide variant	NM_018122.5(DARS2):c.561G>A (p.Leu187=)	not provided [RCV002606820]	likely benign	1	173833444	173833444	Human		name
156407252	CV1918047	single nucleotide variant	NM_018122.5(DARS2):c.513G>A (p.Leu171=)	not provided [RCV002606839]	likely benign	1	173833396	173833396	Human		name
156419692	CV1974098	single nucleotide variant	NM_018122.5(DARS2):c.89A>G (p.Tyr30Cys)	Inborn genetic diseases [RCV005321181]\|not provided [RCV002612931]	uncertain significance	1	173825318	173825318	Human	1	name
156399419	CV1982130	single nucleotide variant	NM_018122.5(DARS2):c.796C>A (p.Arg266=)	not provided [RCV002635827]	likely benign	1	173838215	173838215	Human		name
156211273	CV2000981	single nucleotide variant	NM_018122.5(DARS2):c.31T>C (p.Tyr11His)	not provided [RCV002666855]	uncertain significance	1	173825260	173825260	Human		name
156113734	CV2018664	deletion	NM_018122.5(DARS2):c.1192-13_1192-12del	not provided [RCV002695770]	likely benign	1	173850311	173850312	Human		name
156231819	CV2039776	single nucleotide variant	NM_018122.5(DARS2):c.486C>T (p.Phe162=)	DARS2-related disorder [RCV003943502]\|not provided [RCV002805343]	likely benign	1	173831624	173831624	Human	1	name , trait , alternate_id
156011388	CV2137145	single nucleotide variant	NM_018122.5(DARS2):c.471T>C (p.Phe157=)	not provided [RCV003017761]	likely benign	1	173831609	173831609	Human		name
401856389	CV2752465	single nucleotide variant	NM_018122.5(DARS2):c.86T>G (p.Leu29Arg)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV003340803]	uncertain significance	1	173825315	173825315	Human	1	name
11581959	CV277660	single nucleotide variant	NM_018122.5(DARS2):c.567G>A (p.Leu189=)	DARS2-related disorder [RCV004757196]\|Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000391838]\|not provided [RCV002519412]\|not specified [RCV000421034]	benign\|likely benign\|uncertain significance	1	173833450	173833450	Human	1	name , trait , alternate_id
11582283	CV278579	single nucleotide variant	NM_018122.5(DARS2):c.834T>C (p.Phe278=)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000405969]	uncertain significance	1	173838253	173838253	Human	1	name
401917341	CV2829811	single nucleotide variant	NM_018122.5(DARS2):c.79G>A (p.Gly27Ser)	not provided [RCV003443855]	uncertain significance	1	173825308	173825308	Human		name
404978476	CV2852486	duplication	NM_018122.5(DARS2):c.161dup (p.Cys54fs)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV003486509]	pathogenic	1	173826719	173826720	Human	1	name
405232922	CV2906497	single nucleotide variant	NM_018122.5(DARS2):c.345G>A (p.Val115=)	not provided [RCV003555804]	likely benign	1	173830710	173830710	Human		name
402483372	CV2937588	single nucleotide variant	NM_018122.5(DARS2):c.951T>C (p.Pro317=)	not provided [RCV003659849]	likely benign	1	173839477	173839477	Human		name
404994826	CV3132479	single nucleotide variant	NM_018122.5(DARS2):c.669C>T (p.Ala223=)	DARS2-related disorder [RCV003956593]\|not provided [RCV003827418]	likely benign	1	173836945	173836945	Human	1	name , trait , alternate_id
405196991	CV3138772	single nucleotide variant	NM_018122.5(DARS2):c.44C>T (p.Ser15Phe)	not provided [RCV003821588]	likely benign	1	173825273	173825273	Human		name
405224584	CV3142213	single nucleotide variant	NM_018122.5(DARS2):c.822A>G (p.Arg274=)	not provided [RCV003847752]	likely benign	1	173838241	173838241	Human		name
405228110	CV3143002	single nucleotide variant	NM_018122.5(DARS2):c.972G>T (p.Val324=)	not provided [RCV003848345]	likely benign	1	173839498	173839498	Human		name
405197694	CV3146775	single nucleotide variant	NM_018122.5(DARS2):c.894G>A (p.Glu298=)	not provided [RCV003844130]	likely benign	1	173839420	173839420	Human		name
405282704	CV3213058	single nucleotide variant	NM_018122.5(DARS2):c.795T>C (p.Tyr265=)	DARS2-related disorder [RCV003957152]	likely benign	1	173838214	173838214	Human		name , trait , alternate_id
405280996	CV3223804	deletion	NM_018122.5(DARS2):c.109del (p.Ser37fs)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV003988184]	pathogenic	1	173825337	173825337	Human	1	name
405867791	CV3396612	single nucleotide variant	NM_018122.5(DARS2):c.65C>T (p.Thr22Ile)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV004560483]	uncertain significance	1	173825294	173825294	Human	1	name
12844598	CV364615	single nucleotide variant	NM_018122.5(DARS2):c.303C>T (p.Ala101=)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV003343812]\|not provided [RCV002524851]\|not specified [RCV000438273]	likely benign	1	173830668	173830668	Human	1	name
597673037	CV3655267	single nucleotide variant	NM_018122.5(DARS2):c.59G>T (p.Arg20Met)	Inborn genetic diseases [RCV004981584]	uncertain significance	1	173825288	173825288	Human	1	name
597849409	CV3746580	insertion	NM_018122.5(DARS2):c.228-20_228-19insTC	not provided [RCV005060399]	likely benign	1	173828313	173828314	Human		name
597876597	CV3747881	single nucleotide variant	NM_018122.5(DARS2):c.759C>A (p.Gly253=)	not provided [RCV005069373]	likely benign	1	173837035	173837035	Human		name
598227525	CV3892949	single nucleotide variant	NM_018122.5(DARS2):c.90C>A (p.Tyr30Ter)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005255276]	likely pathogenic	1	173825319	173825319	Human	1	name
598251700	CV3963422	single nucleotide variant	NM_018122.5(DARS2):c.54C>G (p.Ile18Met)	Inborn genetic diseases [RCV005323112]	uncertain significance	1	173825283	173825283	Human	1	name
13788654	CV549869	deletion	NM_018122.5(DARS2):c.1192-29_1192-28del	not provided [RCV000676397]	likely benign	1	173850298	173850299	Human		name
14744292	CV655049	single nucleotide variant	NM_018122.5(DARS2):c.939T>G (p.Val313=)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV003344089]\|not provided [RCV000842656]	likely benign	1	173839465	173839465	Human	1	name
15177534	CV761339	single nucleotide variant	NM_018122.5(DARS2):c.852G>A (p.Glu284=)	not provided [RCV000929180]	likely benign	1	173839378	173839378	Human		name
150404467	CV1178831	single nucleotide variant	NM_018122.5(DARS2):c.172C>G (p.Arg58Gly)	Inborn genetic diseases [RCV005320823]\|Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV001548762]\|Mitochondrial disease [RCV005361657]\|not provided [RCV002568303]	pathogenic\|likely pathogenic\|uncertain significance	1	173826731	173826731	Human	3	name
150444866	CV1266592	insertion	NM_018122.5(DARS2):c.663+225_663+226insC	not provided [RCV001691030]	benign	1	173834744	173834745	Human		name
151866330	CV1381394	single nucleotide variant	NM_018122.5(DARS2):c.170T>G (p.Leu57Trp)	not provided [RCV001905927]	uncertain significance	1	173826729	173826729	Human		name
151759045	CV1443745	deletion	NM_018122.5(DARS2):c.559del (p.Leu187fs)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005253916]\|not provided [RCV001873025]	pathogenic\|likely pathogenic	1	173833441	173833441	Human	1	name
151879993	CV1506404	single nucleotide variant	NM_018122.5(DARS2):c.1344A>G (p.Ala448=)	not provided [RCV001886331]	uncertain significance	1	173850479	173850479	Human		name
151866193	CV1508202	single nucleotide variant	NM_018122.5(DARS2):c.260A>G (p.Asp87Gly)	DARS2-related disorder [RCV003948846]\|Inborn genetic diseases [RCV002569200]\|not provided [RCV001997759]	likely benign\|uncertain significance	1	173828365	173828365	Human	2	name , trait , alternate_id
152150027	CV1555887	single nucleotide variant	NM_018122.5(DARS2):c.1669C>T (p.Leu557=)	not provided [RCV002179303]	likely benign	1	173853900	173853900	Human		name
152035458	CV1583126	single nucleotide variant	NM_018122.5(DARS2):c.1074T>C (p.Asp358=)	not provided [RCV002106907]	likely benign	1	173840919	173840919	Human		name
8595293	CV16102	single nucleotide variant	NM_018122.5(DARS2):c.133A>G (p.Ser45Gly)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000001118]	pathogenic	1	173826692	173826692	Human	1	name
152152824	CV1664557	single nucleotide variant	NM_018122.5(DARS2):c.1398A>G (p.Arg466=)	not provided [RCV002158443]	likely benign	1	173853402	173853402	Human		name
156091450	CV1919760	single nucleotide variant	NM_018122.5(DARS2):c.173G>A (p.Arg58His)	Inborn genetic diseases [RCV003161906]\|Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005254708]\|not provided [RCV002591927]	likely pathogenic\|uncertain significance	1	173826732	173826732	Human	2	name
156419933	CV1967788	single nucleotide variant	NM_018122.5(DARS2):c.294G>T (p.Glu98Asp)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005254115]\|not provided [RCV002613181]	pathogenic\|likely pathogenic\|uncertain significance	1	173828399	173828399	Human	1	name
156311676	CV2000119	single nucleotide variant	NM_018122.5(DARS2):c.1173A>T (p.Ala391=)	not provided [RCV002671671]	likely benign	1	173845273	173845273	Human		name
156334240	CV2000856	single nucleotide variant	NM_018122.5(DARS2):c.1380T>C (p.Ala460=)	DARS2-related disorder [RCV003973456]\|not provided [RCV002649987]	likely benign	1	173853384	173853384	Human	1	name , trait , alternate_id
155912980	CV2011167	single nucleotide variant	NM_018122.5(DARS2):c.1635T>C (p.Asn545=)	not provided [RCV002681851]	likely benign	1	173853866	173853866	Human		name
156365911	CV2020889	deletion	NM_018122.5(DARS2):c.728del (p.Pro243fs)	not provided [RCV002721181]	pathogenic	1	173837003	173837003	Human		name
156010324	CV2051380	single nucleotide variant	NM_018122.5(DARS2):c.292G>A (p.Glu98Lys)	not provided [RCV002820088]	uncertain significance	1	173828397	173828397	Human		name
156227463	CV2088850	single nucleotide variant	NM_018122.5(DARS2):c.1092T>C (p.His364=)	not provided [RCV002876107]	likely benign	1	173840937	173840937	Human		name
155977428	CV2100163	single nucleotide variant	NM_018122.5(DARS2):c.1785T>A (p.Ser595=)	not provided [RCV002881770]	likely benign	1	173857552	173857552	Human		name
156389365	CV2122306	single nucleotide variant	NM_018122.5(DARS2):c.1215C>T (p.Asn405=)	not provided [RCV002943743]	likely benign	1	173850350	173850350	Human		name
156094253	CV2152001	single nucleotide variant	NM_018122.5(DARS2):c.1326T>A (p.Ala442=)	not provided [RCV003020800]	likely benign\|uncertain significance	1	173850461	173850461	Human		name
156226461	CV2164711	single nucleotide variant	NM_018122.5(DARS2):c.287A>G (p.Gln96Arg)	not provided [RCV003042920]	uncertain significance	1	173828392	173828392	Human		name
156217518	CV2172975	single nucleotide variant	NM_018122.5(DARS2):c.1314C>A (p.Val438=)	not provided [RCV003025060]	likely benign	1	173850449	173850449	Human		name
155913461	CV2245854	single nucleotide variant	NM_018122.5(DARS2):c.176C>T (p.Ser59Leu)	Inborn genetic diseases [RCV002771897]	uncertain significance	1	173826735	173826735	Human	1	name
401830441	CV2748143	single nucleotide variant	NM_018122.5(DARS2):c.259G>T (p.Asp87Tyr)	not provided [RCV003329750]	uncertain significance	1	173828364	173828364	Human		name
401857144	CV2750438	single nucleotide variant	NM_018122.5(DARS2):c.106A>G (p.Ser36Gly)	not provided [RCV003334111]	uncertain significance	1	173825335	173825335	Human		name
11581302	CV277469	single nucleotide variant	NM_018122.5(DARS2):c.1758C>T (p.Asp586=)	DARS2-related disorder [RCV003940094]\|Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000364586]\|not provided [RCV000896274]	likely benign\|uncertain significance	1	173857525	173857525	Human	1	name , trait , alternate_id
401894676	CV2785166	single nucleotide variant	NM_018122.5(DARS2):c.200C>A (p.Thr67Asn)	Inborn genetic diseases [RCV003371760]	uncertain significance	1	173826759	173826759	Human	1	name
11582275	CV278589	single nucleotide variant	NM_018122.5(DARS2):c.1182T>C (p.His394=)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000405361]\|not provided [RCV005055841]	likely benign\|uncertain significance	1	173845282	173845282	Human	1	name
401906263	CV2806174	single nucleotide variant	NM_018122.5(DARS2):c.1692C>T (p.Leu564=)	DARS2-related disorder [RCV003901028]\|not provided [RCV003421208]	likely benign	1	173856683	173856683	Human	1	name , trait , alternate_id
405089688	CV2859273	single nucleotide variant	NM_018122.5(DARS2):c.1167C>T (p.Asn389=)	not provided [RCV003549814]	likely benign	1	173845267	173845267	Human		name
405151154	CV3031386	single nucleotide variant	NM_018122.5(DARS2):c.1077A>G (p.Ala359=)	not provided [RCV003703305]	likely benign	1	173840922	173840922	Human		name
405089467	CV3044674	single nucleotide variant	NM_018122.5(DARS2):c.1551T>G (p.Thr517=)	not provided [RCV003717713]	likely benign	1	173853555	173853555	Human		name
405267293	CV3186804	single nucleotide variant	NM_018122.5(DARS2):c.296C>T (p.Ser99Leu)	not provided [RCV003886885]	uncertain significance	1	173830661	173830661	Human		name
407573671	CV3498038	single nucleotide variant	NM_018122.5(DARS2):c.149G>A (p.Arg50Gln)	not provided [RCV004702024]	uncertain significance	1	173826708	173826708	Human		name
597859333	CV3785889	single nucleotide variant	NM_018122.5(DARS2):c.1704C>T (p.Leu568=)	not provided [RCV005133782]	likely benign	1	173856695	173856695	Human		name
597896492	CV3828763	single nucleotide variant	NM_018122.5(DARS2):c.1833T>C (p.His611=)	not provided [RCV005171456]	likely benign	1	173857600	173857600	Human		name
598227516	CV3892950	single nucleotide variant	NM_018122.5(DARS2):c.155A>G (p.Asn52Ser)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005255277]	uncertain significance	1	173826714	173826714	Human	1	name
598226595	CV3894400	single nucleotide variant	NM_018122.5(DARS2):c.1935T>C (p.His645=)	not provided [RCV005257643]	likely benign	1	173857702	173857702	Human		name
12907177	CV414745	deletion	NM_018122.5(DARS2):c.948del (p.Pro317fs)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005252920]\|not provided [RCV000490129]	pathogenic\|likely pathogenic	1	173839471	173839471	Human	1	name
13213753	CV427664	single nucleotide variant	NM_018122.5(DARS2):c.259G>A (p.Asp87Asn)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000709931]	likely pathogenic\|conflicting interpretations of pathogenicity\|not provided	1	173828364	173828364	Human	1	name
13486620	CV442666	single nucleotide variant	NM_018122.5(DARS2):c.188G>A (p.Gly63Asp)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV003989551]\|not provided [RCV000522971]	conflicting interpretations of pathogenicity\|uncertain significance	1	173826747	173826747	Human	1	name
13528274	CV498134	single nucleotide variant	NM_018122.5(DARS2):c.1497G>A (p.Ser499=)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV003343952]\|not provided [RCV002066876]\|not specified [RCV000600009]	likely benign	1	173853501	173853501	Human	1	name
13533428	CV498140	single nucleotide variant	NM_018122.5(DARS2):c.1800T>C (p.Asp600=)	not specified [RCV000607089]	likely benign	1	173857567	173857567	Human		name
13837084	CV588369	single nucleotide variant	NM_018122.5(DARS2):c.223C>T (p.Arg75Ter)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005253104]\|not provided [RCV000733376]	pathogenic\|likely pathogenic	1	173826782	173826782	Human	1	name
150447385	CV1015161	single nucleotide variant	NM_018122.5(DARS2):c.416T>C (p.Ile139Thr)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005253803]\|Mitochondrial disease [RCV005361534]\|Spastic ataxia [RCV001647157]	likely pathogenic\|uncertain significance	1	173831554	173831554	Human	4	name
127266284	CV1058478	duplication	NM_018122.5(DARS2):c.1352dup (p.Leu451fs)	not provided [RCV001388679]	pathogenic	1	173853353	173853354	Human		name
150404466	CV1178832	single nucleotide variant	NM_018122.5(DARS2):c.742C>T (p.Gln248Ter)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV001548761]\|not provided [RCV001587467]	pathogenic\|likely pathogenic	1	173837018	173837018	Human	1	name
150421602	CV1179145	single nucleotide variant	NM_018122.5(DARS2):c.508C>T (p.Arg170Trp)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005253860]\|not provided [RCV001552091]	uncertain significance	1	173833391	173833391	Human	1	name
150426405	CV1186080	duplication	NM_018122.5(DARS2):c.1344+141_1344+142dup	not provided [RCV001559539]	likely benign	1	173850605	173850606	Human		name
150414474	CV1189512	deletion	NM_018122.5(DARS2):c.1129-308_1129-299del	not provided [RCV001567549]	likely benign	1	173844919	173844928	Human		name
150436746	CV1245989	single nucleotide variant	NM_018122.5(DARS2):c.562C>T (p.Arg188Ter)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV001663401]\|not provided [RCV005094871]	pathogenic\|likely pathogenic	1	173833445	173833445	Human	1	name
150521421	CV1290300	single nucleotide variant	NM_018122.5(DARS2):c.452C>A (p.Ala151Asp)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV001838824]	likely pathogenic	1	173831590	173831590	Human	1	name
150521423	CV1290301	single nucleotide variant	NM_018122.5(DARS2):c.761G>A (p.Gly254Asp)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV001838825]	likely pathogenic\|uncertain significance	1	173837037	173837037	Human	1	name
150530107	CV1293344	single nucleotide variant	NM_018122.5(DARS2):c.374G>A (p.Arg125His)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005253874]\|not provided [RCV001756564]	uncertain significance	1	173830739	173830739	Human	1	name
150530109	CV1293345	single nucleotide variant	NM_018122.5(DARS2):c.473A>T (p.Glu158Val)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005253875]\|not provided [RCV001756565]	uncertain significance	1	173831611	173831611	Human	1	name
150530111	CV1293346	single nucleotide variant	NM_018122.5(DARS2):c.742C>A (p.Gln248Lys)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005253876]\|not provided [RCV001756566]	uncertain significance	1	173837018	173837018	Human	1	name
150532771	CV1293663	single nucleotide variant	NM_018122.5(DARS2):c.829G>A (p.Glu277Lys)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV003346666]\|not provided [RCV001757940]	uncertain significance	1	173838248	173838248	Human	1	name
150545449	CV1293810	single nucleotide variant	NM_018122.5(DARS2):c.503C>T (p.Ala168Val)	not provided [RCV001762991]	uncertain significance	1	173833386	173833386	Human		name
150551637	CV1294851	single nucleotide variant	NM_018122.5(DARS2):c.662G>A (p.Gly221Glu)	not provided [RCV001754444]	uncertain significance	1	173834518	173834518	Human		name
150531665	CV1301986	single nucleotide variant	NM_018122.5(DARS2):c.785C>T (p.Ala262Val)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005253882]\|not provided [RCV001757203]	likely pathogenic\|uncertain significance	1	173838204	173838204	Human	1	name
151748713	CV1367828	single nucleotide variant	NM_018122.5(DARS2):c.346G>T (p.Val116Leu)	not provided [RCV001894099]	uncertain significance	1	173830711	173830711	Human		name
151709662	CV1375971	single nucleotide variant	NM_018122.5(DARS2):c.512T>C (p.Leu171Ser)	not provided [RCV001964032]	uncertain significance	1	173833395	173833395	Human		name
151861188	CV1386182	single nucleotide variant	NM_018122.5(DARS2):c.749T>C (p.Leu250Pro)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005253911]\|not provided [RCV001905299]	conflicting interpretations of pathogenicity\|uncertain significance	1	173837025	173837025	Human	1	name
151859349	CV1403696	single nucleotide variant	NM_018122.5(DARS2):c.597A>C (p.Glu199Asp)	not provided [RCV001996930]	uncertain significance	1	173833480	173833480	Human		name
151835553	CV1436272	single nucleotide variant	NM_018122.5(DARS2):c.592C>T (p.Arg198Trp)	not provided [RCV002014746]	uncertain significance	1	173833475	173833475	Human		name
151869452	CV1438878	single nucleotide variant	NM_018122.5(DARS2):c.760G>A (p.Gly254Ser)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005253960]\|not provided [RCV002035468]	pathogenic\|uncertain significance	1	173837036	173837036	Human	1	name
151842620	CV1514335	single nucleotide variant	NM_018122.5(DARS2):c.769A>G (p.Arg257Gly)	not provided [RCV001956937]	uncertain significance	1	173837045	173837045	Human		name
8595287	CV16096	indel	NM_018122.5(DARS2):c.228-21_228-20delinsC	Clubfoot [RCV000626945]\|Dysmetria [RCV000415026]\|Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000001112]\|not provided [RCV003332072]	pathogenic	1	173828312	173828313	Human		name
8595289	CV16098	single nucleotide variant	NM_018122.5(DARS2):c.787C>T (p.Arg263Ter)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000001114]\|not provided [RCV002512634]	pathogenic	1	173838206	173838206	Human	1	name
8595290	CV16099	single nucleotide variant	NM_018122.5(DARS2):c.788G>A (p.Arg263Gln)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000001115]\|not provided [RCV002243611]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	173838207	173838207	Human	1	name
8595291	CV16100	single nucleotide variant	NM_018122.5(DARS2):c.455G>T (p.Cys152Phe)	DARS2-related disorder [RCV003934791]\|Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000001116]\|See cases [RCV002254674]\|not provided [RCV000676393]	pathogenic	1	173831593	173831593	Human	1	name , trait , alternate_id
8595294	CV16103	single nucleotide variant	NM_018122.5(DARS2):c.536G>A (p.Arg179His)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000001119]\|not provided [RCV001268501]	pathogenic\|likely pathogenic	1	173833419	173833419	Human	1	name
153302841	CV1686094	single nucleotide variant	NM_018122.5(DARS2):c.652A>T (p.Arg218Trp)	not provided [RCV002261527]	uncertain significance	1	173834508	173834508	Human		name
155695565	CV1772024	single nucleotide variant	NM_018122.5(DARS2):c.312G>T (p.Lys104Asn)	not provided [RCV002299589]	uncertain significance	1	173830677	173830677	Human		name
156324669	CV1890980	single nucleotide variant	NM_018122.5(DARS2):c.535C>T (p.Arg179Cys)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005254701]\|not provided [RCV003089408]	pathogenic\|uncertain significance	1	173833418	173833418	Human	1	name
156311938	CV1928531	single nucleotide variant	NM_018122.5(DARS2):c.796C>T (p.Arg266Ter)	Inborn genetic diseases [RCV002648220]\|Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV003341525]\|not provided [RCV002634321]	pathogenic\|likely pathogenic	1	173838215	173838215	Human	2	name
156173324	CV1930280	single nucleotide variant	NM_018122.5(DARS2):c.460A>C (p.Lys154Gln)	not provided [RCV002624785]	uncertain significance	1	173831598	173831598	Human		name
156126476	CV2012432	single nucleotide variant	NM_018122.5(DARS2):c.326A>G (p.Glu109Gly)	not provided [RCV002696240]	uncertain significance	1	173830691	173830691	Human		name
156012465	CV2013041	single nucleotide variant	NM_018122.5(DARS2):c.793T>C (p.Tyr265His)	not provided [RCV002734968]	uncertain significance	1	173838212	173838212	Human		name
155943452	CV2032484	single nucleotide variant	NM_018122.5(DARS2):c.994A>G (p.Lys332Glu)	not provided [RCV002730265]	likely pathogenic	1	173839520	173839520	Human		name
155963224	CV2134592	single nucleotide variant	NM_018122.5(DARS2):c.451G>T (p.Ala151Ser)	not provided [RCV002972487]	uncertain significance	1	173831589	173831589	Human		name
156094546	CV2139472	single nucleotide variant	NM_018122.5(DARS2):c.955A>G (p.Met319Val)	not provided [RCV002979741]	uncertain significance	1	173839481	173839481	Human		name
155951576	CV2165043	single nucleotide variant	NM_018122.5(DARS2):c.314A>T (p.Lys105Met)	not provided [RCV003032463]	uncertain significance	1	173830679	173830679	Human		name
11059978	CV226869	single nucleotide variant	NM_018122.5(DARS2):c.549G>A (p.Met183Ile)	Inborn genetic diseases [RCV000210580]\|Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005252815]	likely pathogenic\|uncertain significance	1	173833432	173833432	Human	2	name
156179766	CV2327691	single nucleotide variant	NM_018122.5(DARS2):c.920A>C (p.Asn307Thr)	Inborn genetic diseases [RCV002930338]	uncertain significance	1	173839446	173839446	Human	1	name
329377314	CV2453230	single nucleotide variant	NM_018122.5(DARS2):c.503C>G (p.Ala168Gly)	Inborn genetic diseases [RCV003186366]	uncertain significance	1	173833386	173833386	Human	1	name
329386676	CV2455994	single nucleotide variant	NM_018122.5(DARS2):c.920A>G (p.Asn307Ser)	Inborn genetic diseases [RCV003214790]	likely benign	1	173839446	173839446	Human	1	name
401770008	CV2710808	single nucleotide variant	NM_018122.5(DARS2):c.328G>A (p.Ala110Thr)	Inborn genetic diseases [RCV003260866]	uncertain significance	1	173830693	173830693	Human	1	name
401829084	CV2743589	single nucleotide variant	NM_018122.5(DARS2):c.823C>T (p.Gln275Ter)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005254767]\|not provided [RCV003326765]	pathogenic\|likely pathogenic	1	173838242	173838242	Human	1	name
401916330	CV2831043	single nucleotide variant	NM_018122.5(DARS2):c.382G>C (p.Gly128Arg)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005254791]\|not provided [RCV003443312]	likely pathogenic\|uncertain significance	1	173830747	173830747	Human	1	name
401961389	CV2843707	single nucleotide variant	NM_018122.5(DARS2):c.890T>C (p.Ile297Thr)	not provided [RCV003481544]	uncertain significance	1	173839416	173839416	Human		name
405191579	CV2984849	deletion	NM_018122.5(DARS2):c.1065del (p.Leu356fs)	not provided [RCV003706512]	pathogenic	1	173840908	173840908	Human		name
405217472	CV3048858	single nucleotide variant	NM_018122.5(DARS2):c.797G>A (p.Arg266Gln)	not provided [RCV003732840]	uncertain significance	1	173838216	173838216	Human		name
405235968	CV3168949	duplication	NM_018122.5(DARS2):c.1011dup (p.Gly338fs)	not provided [RCV003866228]	pathogenic	1	173839534	173839535	Human		name
405688951	CV3246373	single nucleotide variant	NM_018122.5(DARS2):c.881A>G (p.Gln294Arg)	Inborn genetic diseases [RCV004372943]	uncertain significance	1	173839407	173839407	Human	1	name
405688956	CV3246374	single nucleotide variant	NM_018122.5(DARS2):c.983A>G (p.Tyr328Cys)	Inborn genetic diseases [RCV004372944]	uncertain significance	1	173839509	173839509	Human	1	name
407453041	CV3430134	single nucleotide variant	NM_018122.5(DARS2):c.376C>T (p.Pro126Ser)	Inborn genetic diseases [RCV004608802]	uncertain significance	1	173830741	173830741	Human	1	name
407453044	CV3430136	single nucleotide variant	NM_018122.5(DARS2):c.406A>G (p.Thr136Ala)	Inborn genetic diseases [RCV004608804]	uncertain significance	1	173831544	173831544	Human	1	name
407453045	CV3430137	single nucleotide variant	NM_018122.5(DARS2):c.962T>C (p.Phe321Ser)	Inborn genetic diseases [RCV004608805]	uncertain significance	1	173839488	173839488	Human	1	name
8601226	CV34399	single nucleotide variant	NM_018122.5(DARS2):c.587A>G (p.Lys196Arg)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000291422]\|not provided [RCV000676394]\|not specified [RCV000124662]	benign\|likely benign	1	173833470	173833470	Human	3	name
8601226	CV34399	single nucleotide variant	NM_018122.5(DARS2):c.587A>G (p.Lys196Arg)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000291422]\|not provided [RCV000676394]\|not specified [RCV000124662]	benign\|likely benign	1	173833470	173833471	Human	3	name
596932739	CV3539366	single nucleotide variant	NM_018122.5(DARS2):c.598T>C (p.Tyr200His)	not provided [RCV004793990]	uncertain significance	1	173833481	173833481	Human		name
596932743	CV3539370	single nucleotide variant	NM_018122.5(DARS2):c.601C>T (p.Leu201Phe)	not provided [RCV004793994]	uncertain significance	1	173833484	173833484	Human		name
12835029	CV364624	single nucleotide variant	NM_018122.5(DARS2):c.580G>A (p.Val194Ile)	DARS2-related disorder [RCV003922735]\|Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV001101393]\|not provided [RCV000907093]\|not specified [RCV000420975]	benign\|likely benign	1	173833463	173833463	Human	1	name , trait , alternate_id
597673016	CV3655263	single nucleotide variant	NM_018122.5(DARS2):c.738T>G (p.Phe246Leu)	Inborn genetic diseases [RCV004981580]	uncertain significance	1	173837014	173837014	Human	1	name
597673034	CV3655266	single nucleotide variant	NM_018122.5(DARS2):c.424A>G (p.Lys142Glu)	Inborn genetic diseases [RCV004981583]	uncertain significance	1	173831562	173831562	Human	1	name
597921717	CV3861066	duplication	NM_018122.5(DARS2):c.1427dup (p.Ser477fs)	not provided [RCV005196414]	pathogenic	1	173853429	173853430	Human		name
598225832	CV3892954	single nucleotide variant	NM_018122.5(DARS2):c.406A>T (p.Thr136Ser)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005255281]	uncertain significance	1	173831544	173831544	Human	1	name
598225860	CV3892958	single nucleotide variant	NM_018122.5(DARS2):c.550C>A (p.Gln184Lys)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005255285]	likely pathogenic	1	173833433	173833433	Human	1	name
598225874	CV3892960	single nucleotide variant	NM_018122.5(DARS2):c.617G>A (p.Gly206Glu)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005255287]	uncertain significance	1	173834473	173834473	Human	1	name
598225881	CV3892961	single nucleotide variant	NM_018122.5(DARS2):c.716T>C (p.Leu239Pro)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005255288]	uncertain significance	1	173836992	173836992	Human	1	name
598225888	CV3892962	single nucleotide variant	NM_018122.5(DARS2):c.745C>A (p.Leu249Ile)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005255289]	uncertain significance	1	173837021	173837021	Human	1	name
598225895	CV3892963	single nucleotide variant	NM_018122.5(DARS2):c.748C>G (p.Leu250Val)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005255290]	uncertain significance	1	173837024	173837024	Human	1	name
598225984	CV3892975	single nucleotide variant	NM_018122.5(DARS2):c.753G>T (p.Met251Ile)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005255302]	uncertain significance	1	173837029	173837029	Human	1	name
598225991	CV3892976	single nucleotide variant	NM_018122.5(DARS2):c.407C>A (p.Thr136Lys)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005255303]	uncertain significance	1	173831545	173831545	Human	1	name
598218677	CV3895540	deletion	NM_018122.5(DARS2):c.1046del (p.Arg349fs)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005360396]	likely pathogenic	1	173840891	173840891	Human	1	name
598251706	CV3963424	single nucleotide variant	NM_018122.5(DARS2):c.460A>G (p.Lys154Glu)	Inborn genetic diseases [RCV005323114]	uncertain significance	1	173831598	173831598	Human	1	name
616936623	CV4016473	single nucleotide variant	NM_018122.5(DARS2):c.521G>A (p.Arg174His)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005415335]	likely pathogenic	1	173833404	173833404	Human	1	name
12895243	CV404986	single nucleotide variant	NM_018122.5(DARS2):c.505C>T (p.Leu169Phe)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005252913]\|not provided [RCV000485720]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	173833388	173833388	Human	1	name
12907272	CV414744	single nucleotide variant	NM_018122.5(DARS2):c.527T>C (p.Leu176Ser)	not provided [RCV000490243]	likely pathogenic	1	173833410	173833410	Human		name
13475252	CV442668	single nucleotide variant	NM_018122.5(DARS2):c.469T>A (p.Phe157Ile)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005252944]\|not provided [RCV000519843]	uncertain significance	1	173831607	173831607	Human	1	name
13488478	CV442669	single nucleotide variant	NM_018122.5(DARS2):c.509G>A (p.Arg170Gln)	not provided [RCV000523575]	uncertain significance	1	173833392	173833392	Human		name
13477229	CV442670	single nucleotide variant	NM_018122.5(DARS2):c.668C>G (p.Ala223Gly)	not provided [RCV000520341]	uncertain significance	1	173836944	173836944	Human		name
13520414	CV495088	deletion	NM_018122.5(DARS2):c.1094del (p.Gly365fs)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005252990]\|not provided [RCV000598619]	likely pathogenic	1	173840938	173840938	Human	1	name
15040222	CV682589	single nucleotide variant	NM_018122.5(DARS2):c.563G>A (p.Arg188Gln)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000856596]	likely pathogenic\|conflicting interpretations of pathogenicity	1	173833446	173833446	Human	1	name
21070513	CV789885	single nucleotide variant	NM_018122.5(DARS2):c.610C>G (p.Leu204Val)	Inborn genetic diseases [RCV002549667]\|Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000986464]\|not provided [RCV001858642]	uncertain significance	1	173833493	173833493	Human	2	name
21070514	CV789886	deletion	NM_018122.5(DARS2):c.1196del (p.Ile399fs)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000986465]	pathogenic	1	173850331	173850331	Human	1	name
34890828	CV904374	single nucleotide variant	NM_018122.5(DARS2):c.380C>T (p.Ala127Val)	not provided [RCV001171768]	uncertain significance	1	173830745	173830745	Human		name
126730584	CV1002311	single nucleotide variant	NM_018122.5(DARS2):c.1018A>C (p.Lys340Gln)	not provided [RCV001312890]	uncertain significance	1	173839544	173839544	Human		name
126921427	CV1039621	single nucleotide variant	NM_018122.5(DARS2):c.1807G>T (p.Ala603Ser)	not provided [RCV001363487]	uncertain significance	1	173857574	173857574	Human		name
150529894	CV1293238	single nucleotide variant	NM_018122.5(DARS2):c.1768T>C (p.Cys590Arg)	not provided [RCV001756457]	uncertain significance	1	173857535	173857535	Human		name
151893344	CV1338145	single nucleotide variant	NM_018122.5(DARS2):c.1343C>T (p.Ala448Val)	not provided [RCV001944941]	uncertain significance	1	173850478	173850478	Human		name
151762157	CV1346734	single nucleotide variant	NM_018122.5(DARS2):c.1246A>G (p.Asn416Asp)	Inborn genetic diseases [RCV004044610]\|not provided [RCV001970320]	uncertain significance	1	173850381	173850381	Human	1	name
151872912	CV1351821	single nucleotide variant	NM_018122.5(DARS2):c.1488G>T (p.Glu496Asp)	not provided [RCV001998581]	uncertain significance	1	173853492	173853492	Human		name
151873716	CV1382128	single nucleotide variant	NM_018122.5(DARS2):c.1383C>A (p.Asp461Glu)	not provided [RCV002019274]	uncertain significance	1	173853387	173853387	Human		name
151846114	CV1405659	single nucleotide variant	NM_018122.5(DARS2):c.1142G>T (p.Arg381Met)	Inborn genetic diseases [RCV003247132]\|Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV003348602]\|not provided [RCV001903457]	uncertain significance	1	173845242	173845242	Human	2	name
8690815	CV140769	single nucleotide variant	NM_018122.5(DARS2):c.1642C>A (p.Leu548Met)	DARS2-related disorder [RCV003905197]\|Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000369986]\|not provided [RCV000224061]\|not specified [RCV000124655]	benign\|likely benign\|uncertain significance	1	173853873	173853873	Human	1	name , trait , alternate_id
151718659	CV1419767	single nucleotide variant	NM_018122.5(DARS2):c.1118C>A (p.Pro373His)	Inborn genetic diseases [RCV002568530]\|Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV003348691]\|not provided [RCV001965624]	uncertain significance	1	173840963	173840963	Human	2	name
151748679	CV1430221	single nucleotide variant	NM_018122.5(DARS2):c.1534A>G (p.Ile512Val)	not provided [RCV002006624]	uncertain significance	1	173853538	173853538	Human		name
151832327	CV1447180	single nucleotide variant	NM_018122.5(DARS2):c.1649G>A (p.Arg550His)	not provided [RCV001880428]	uncertain significance	1	173853880	173853880	Human		name
151751459	CV1457329	single nucleotide variant	NM_018122.5(DARS2):c.1220A>G (p.Asn407Ser)	not provided [RCV001913026]	uncertain significance	1	173850355	173850355	Human		name
151829987	CV1465589	single nucleotide variant	NM_018122.5(DARS2):c.1660G>A (p.Ala554Thr)	Inborn genetic diseases [RCV002545564]\|Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV003348759]\|not provided [RCV002014219]	uncertain significance	1	173853891	173853891	Human	2	name
151863276	CV1498476	single nucleotide variant	NM_018122.5(DARS2):c.1157C>T (p.Ser386Phe)	not provided [RCV001980404]	uncertain significance	1	173845257	173845257	Human		name
8595288	CV16097	single nucleotide variant	NM_018122.5(DARS2):c.1876C>G (p.Leu626Val)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000001113]	pathogenic\|uncertain significance	1	173857643	173857643	Human	1	name
8595295	CV16104	single nucleotide variant	NM_018122.5(DARS2):c.1273G>T (p.Glu425Ter)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000001120]\|not provided [RCV001794426]	pathogenic\|uncertain significance	1	173850408	173850408	Human	1	name
8595296	CV16105	single nucleotide variant	NM_018122.5(DARS2):c.1837C>T (p.Leu613Phe)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000001121]	pathogenic\|uncertain significance	1	173857604	173857604	Human	1	name
8595297	CV16106	single nucleotide variant	NM_018122.5(DARS2):c.1877T>A (p.Leu626Gln)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000001122]	pathogenic\|uncertain significance	1	173857644	173857644	Human	1	name
152057828	CV1670642	single nucleotide variant	NM_018122.5(DARS2):c.1452C>G (p.Phe484Leu)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005254031]\|not provided [RCV002226162]	pathogenic\|uncertain significance	1	173853456	173853456	Human	1	name
155267560	CV1697479	single nucleotide variant	NM_018122.5(DARS2):c.1702C>T (p.Leu568Phe)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV002281618]	likely pathogenic	1	173856693	173856693	Human	1	name
155267561	CV1697480	single nucleotide variant	NM_018122.5(DARS2):c.1456C>G (p.Leu486Val)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV002281619]	likely pathogenic\|uncertain significance	1	173853460	173853460	Human	1	name
155747096	CV1778317	single nucleotide variant	NM_018122.5(DARS2):c.1423C>G (p.Leu475Val)	not provided [RCV002303605]	uncertain significance	1	173853427	173853427	Human		name
155798566	CV1862066	single nucleotide variant	NM_018122.5(DARS2):c.1563G>T (p.Lys521Asn)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV002471469]	uncertain significance	1	173853567	173853567	Human	1	name
155798567	CV1862067	single nucleotide variant	NM_018122.5(DARS2):c.1768T>G (p.Cys590Gly)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV002471470]	uncertain significance	1	173857535	173857535	Human	1	name
156275260	CV1911823	single nucleotide variant	NM_018122.5(DARS2):c.1421C>T (p.Thr474Ile)	Inborn genetic diseases [RCV004978694]\|not provided [RCV002628243]	uncertain significance	1	173853425	173853425	Human	1	name
156311953	CV1928532	single nucleotide variant	NM_018122.5(DARS2):c.1433T>C (p.Phe478Ser)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005254718]\|not provided [RCV002648221]	uncertain significance	1	173853437	173853437	Human	1	name
156444888	CV1948937	single nucleotide variant	NM_018122.5(DARS2):c.1285C>G (p.Leu429Val)	not provided [RCV003115818]	uncertain significance	1	173850420	173850420	Human		name
156109441	CV1961340	single nucleotide variant	NM_018122.5(DARS2):c.1691T>C (p.Leu564Pro)	not provided [RCV002592717]	uncertain significance	1	173856682	173856682	Human		name
156411033	CV1976045	single nucleotide variant	NM_018122.5(DARS2):c.1583A>T (p.Asp528Val)	not provided [RCV002587360]	uncertain significance	1	173853814	173853814	Human		name
155959121	CV2029752	single nucleotide variant	NM_018122.5(DARS2):c.1375T>C (p.Cys459Arg)	not provided [RCV002731090]	uncertain significance	1	173853379	173853379	Human		name
156178859	CV2061301	single nucleotide variant	NM_018122.5(DARS2):c.1733A>C (p.His578Pro)	not provided [RCV002802193]	uncertain significance	1	173856724	173856724	Human		name
156039129	CV2097901	single nucleotide variant	NM_018122.5(DARS2):c.1381G>T (p.Asp461Tyr)	Inborn genetic diseases [RCV002885741]\|Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV003348922]\|not provided [RCV002885740]	uncertain significance	1	173853385	173853385	Human	2	name
156092720	CV2113965	single nucleotide variant	NM_018122.5(DARS2):c.1768T>A (p.Cys590Ser)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV003348934]\|not provided [RCV002926742]	uncertain significance	1	173857535	173857535	Human	1	name
156033384	CV2116366	single nucleotide variant	NM_018122.5(DARS2):c.1124G>A (p.Gly375Glu)	not provided [RCV002910166]	uncertain significance	1	173840969	173840969	Human		name
156009479	CV2126782	single nucleotide variant	NM_018122.5(DARS2):c.1468A>G (p.Lys490Glu)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005419524]\|not provided [RCV002975568]	uncertain significance	1	173853472	173853472	Human	1	name
155945437	CV2139406	single nucleotide variant	NM_018122.5(DARS2):c.1255A>G (p.Met419Val)	Inborn genetic diseases [RCV004065281]\|not provided [RCV002994314]	uncertain significance	1	173850390	173850390	Human	1	name
155943053	CV2154440	single nucleotide variant	NM_018122.5(DARS2):c.1861G>A (p.Val621Ile)	not provided [RCV003014394]	uncertain significance	1	173857628	173857628	Human		name
156323922	CV2163185	single nucleotide variant	NM_018122.5(DARS2):c.1076C>T (p.Ala359Val)	not provided [RCV003029359]	uncertain significance	1	173840921	173840921	Human		name
156402346	CV2191515	single nucleotide variant	NM_018122.5(DARS2):c.1375T>G (p.Cys459Gly)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV003138460]\|not provided [RCV003052427]	uncertain significance	1	173853379	173853379	Human	1	name
156128937	CV2220103	single nucleotide variant	NM_018122.5(DARS2):c.1832A>G (p.His611Arg)	Inborn genetic diseases [RCV002708337]	uncertain significance	1	173857599	173857599	Human	1	name
155976122	CV2235991	single nucleotide variant	NM_018122.5(DARS2):c.1157C>A (p.Ser386Tyr)	Inborn genetic diseases [RCV002777288]	uncertain significance	1	173845257	173845257	Human	1	name
156124403	CV2237338	single nucleotide variant	NM_018122.5(DARS2):c.1215C>G (p.Asn405Lys)	Inborn genetic diseases [RCV002762513]	likely benign	1	173850350	173850350	Human	1	name
156109972	CV2261549	single nucleotide variant	NM_018122.5(DARS2):c.1538A>C (p.His513Pro)	Inborn genetic diseases [RCV002799663]	uncertain significance	1	173853542	173853542	Human	1	name
156267598	CV2296683	single nucleotide variant	NM_018122.5(DARS2):c.1628T>A (p.Ile543Asn)	Inborn genetic diseases [RCV002855816]	uncertain significance	1	173853859	173853859	Human	1	name
156352151	CV2323907	single nucleotide variant	NM_018122.5(DARS2):c.1172C>T (p.Ala391Val)	Inborn genetic diseases [RCV002940043]	uncertain significance	1	173845272	173845272	Human	1	name
243057315	CV2415066	single nucleotide variant	NM_018122.5(DARS2):c.1028A>G (p.Asp343Gly)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV003146008]	uncertain significance	1	173840873	173840873	Human	1	name
243052364	CV2417870	single nucleotide variant	NM_018122.5(DARS2):c.1441G>A (p.Val481Met)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV003152935]	likely pathogenic\|conflicting interpretations of pathogenicity	1	173853445	173853445	Human	1	name
329350985	CV2477815	indel	NM_018122.5(DARS2):c.228-21_228-20delinsCC	not provided [RCV003223928]	uncertain significance	1	173828312	173828313	Human		name
329953392	CV2668368	single nucleotide variant	NM_018122.5(DARS2):c.1744G>A (p.Ala582Thr)	not provided [RCV003230021]	uncertain significance	1	173856735	173856735	Human		name
401758187	CV2704218	single nucleotide variant	NM_018122.5(DARS2):c.1891A>G (p.Ile631Val)	Inborn genetic diseases [RCV003256305]	uncertain significance	1	173857658	173857658	Human	1	name
401897986	CV2769930	single nucleotide variant	NM_018122.5(DARS2):c.1091A>C (p.His364Pro)	Inborn genetic diseases [RCV003376136]	uncertain significance	1	173840936	173840936	Human	1	name
11647668	CV277460	single nucleotide variant	NM_018122.5(DARS2):c.1715A>C (p.Asp572Ala)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000277863]	uncertain significance	1	173856706	173856706	Human	1	name
11578006	CV277473	single nucleotide variant	NM_018122.5(DARS2):c.1804A>G (p.Ile602Val)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000272280]	uncertain significance	1	173857571	173857571	Human	1	name
11579790	CV278546	single nucleotide variant	NM_018122.5(DARS2):c.1558A>C (p.Lys520Gln)	Inborn genetic diseases [RCV003243056]\|Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000313004]\|not provided [RCV001850499]	likely benign\|uncertain significance	1	173853562	173853562	Human	2	name
11657134	CV278586	single nucleotide variant	NM_018122.5(DARS2):c.1063T>A (p.Phe355Ile)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000338785]	uncertain significance	1	173840908	173840908	Human	1	name
11654724	CV278590	single nucleotide variant	NM_018122.5(DARS2):c.1829G>C (p.Gly610Ala)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000320285]	uncertain significance	1	173857596	173857596	Human	1	name
401877215	CV2790090	single nucleotide variant	NM_018122.5(DARS2):c.1633A>T (p.Asn545Tyr)	Inborn genetic diseases [RCV003383682]	uncertain significance	1	173853864	173853864	Human	1	name
401961488	CV2843807	single nucleotide variant	NM_018122.5(DARS2):c.1440G>A (p.Trp480Ter)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005254812]\|not provided [RCV003481646]	likely pathogenic	1	173853444	173853444	Human	1	name
402481935	CV2864154	single nucleotide variant	NM_018122.5(DARS2):c.1668A>C (p.Leu556Phe)	not provided [RCV003544034]	uncertain significance	1	173853899	173853899	Human		name
405181803	CV2914125	single nucleotide variant	NM_018122.5(DARS2):c.1079T>A (p.Leu360His)	not provided [RCV003563984]	uncertain significance	1	173840924	173840924	Human		name
405130333	CV3050974	single nucleotide variant	NM_018122.5(DARS2):c.1552G>T (p.Glu518Ter)	not provided [RCV003724769]	pathogenic	1	173853556	173853556	Human		name
405157456	CV3152590	single nucleotide variant	NM_018122.5(DARS2):c.1333C>T (p.His445Tyr)	not provided [RCV003840517]	uncertain significance	1	173850468	173850468	Human		name
405251500	CV3181344	single nucleotide variant	NM_018122.5(DARS2):c.1366C>T (p.Arg456Ter)	not provided [RCV003870346]	pathogenic	1	173853370	173853370	Human		name
405269802	CV3187494	single nucleotide variant	NM_018122.5(DARS2):c.1367G>T (p.Arg456Leu)	not provided [RCV003887578]	uncertain significance	1	173853371	173853371	Human		name
405688935	CV3246370	single nucleotide variant	NM_018122.5(DARS2):c.1420A>G (p.Thr474Ala)	Inborn genetic diseases [RCV004372940]	likely benign	1	173853424	173853424	Human	1	name
405688945	CV3246372	single nucleotide variant	NM_018122.5(DARS2):c.1625G>A (p.Arg542Gln)	Inborn genetic diseases [RCV004372942]	uncertain significance	1	173853856	173853856	Human	1	name
405853905	CV3393713	single nucleotide variant	NM_018122.5(DARS2):c.1333C>A (p.His445Asn)	not provided [RCV004546939]	uncertain significance	1	173850468	173850468	Human		name
407427684	CV3411994	single nucleotide variant	NM_018122.5(DARS2):c.1726C>T (p.Pro576Ser)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005254922]\|not provided [RCV004592165]	uncertain significance	1	173856717	173856717	Human	1	name
407453042	CV3430135	single nucleotide variant	NM_018122.5(DARS2):c.1862T>C (p.Val621Ala)	Inborn genetic diseases [RCV004608803]	uncertain significance	1	173857629	173857629	Human	1	name
8601225	CV34398	single nucleotide variant	NM_018122.5(DARS2):c.1013G>A (p.Gly338Glu)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000300335]\|not provided [RCV000676396]	benign\|likely benign	1	173839539	173839539	Human	3	name
8601225	CV34398	single nucleotide variant	NM_018122.5(DARS2):c.1013G>A (p.Gly338Glu)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000300335]\|not provided [RCV000676396]	benign\|likely benign	1	173839539	173839540	Human	3	name
407574636	CV3499647	single nucleotide variant	NM_018122.5(DARS2):c.1456C>T (p.Leu486Phe)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005254932]\|not provided [RCV004720140]	uncertain significance	1	173853460	173853460	Human	1	name
596926263	CV3536184	single nucleotide variant	NM_018122.5(DARS2):c.1841T>C (p.Met614Thr)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV004788614]	uncertain significance	1	173857608	173857608	Human	1	name
597650223	CV3551873	single nucleotide variant	NM_018122.5(DARS2):c.1490T>C (p.Leu497Pro)	not provided [RCV004820586]	uncertain significance	1	173853494	173853494	Human		name
597631986	CV3552758	single nucleotide variant	NM_018122.5(DARS2):c.1694C>T (p.Ser565Phe)	not provided [RCV004823586]	uncertain significance	1	173856685	173856685	Human		name
12849814	CV364641	single nucleotide variant	NM_018122.5(DARS2):c.1355T>G (p.Leu452Ter)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005252894]\|not provided [RCV000436360]	likely pathogenic	1	173853359	173853359	Human	1	name
597673014	CV3655261	single nucleotide variant	NM_018122.5(DARS2):c.1058T>C (p.Ile353Thr)	Inborn genetic diseases [RCV004981579]	uncertain significance	1	173840903	173840903	Human	1	name
597673022	CV3655264	single nucleotide variant	NM_018122.5(DARS2):c.1067T>G (p.Leu356Arg)	Inborn genetic diseases [RCV004981581]	uncertain significance	1	173840912	173840912	Human	1	name
597673029	CV3655265	single nucleotide variant	NM_018122.5(DARS2):c.1679A>C (p.Asp560Ala)	Inborn genetic diseases [RCV004981582]	uncertain significance	1	173856670	173856670	Human	1	name
597846242	CV3880599	single nucleotide variant	NM_018122.5(DARS2):c.1864C>T (p.Pro622Ser)	not provided [RCV005227487]	uncertain significance	1	173857631	173857631	Human		name
598225919	CV3892966	single nucleotide variant	NM_018122.5(DARS2):c.1007G>A (p.Arg336His)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005255293]	uncertain significance	1	173839533	173839533	Human	1	name
598225955	CV3892971	single nucleotide variant	NM_018122.5(DARS2):c.1619C>G (p.Ser540Ter)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005255298]	likely pathogenic	1	173853850	173853850	Human	1	name
598225962	CV3892972	single nucleotide variant	NM_018122.5(DARS2):c.1679A>T (p.Asp560Val)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005255299]	uncertain significance	1	173856670	173856670	Human	1	name
598225969	CV3892973	single nucleotide variant	NM_018122.5(DARS2):c.1789A>G (p.Ser597Gly)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005255300]	uncertain significance	1	173857556	173857556	Human	1	name
598225976	CV3892974	single nucleotide variant	NM_018122.5(DARS2):c.1886A>G (p.Tyr629Cys)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005255301]	uncertain significance	1	173857653	173857653	Human	1	name
8602344	CV39820	single nucleotide variant	NM_018122.5(DARS2):c.1825C>T (p.Arg609Trp)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV000023848]\|not provided [RCV001762056]	pathogenic\|uncertain significance	1	173857592	173857592	Human	1	name
12894521	CV404988	single nucleotide variant	NM_018122.5(DARS2):c.1501C>T (p.His501Tyr)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005252903]\|not provided [RCV000483129]	likely pathogenic\|uncertain significance	1	173853505	173853505	Human	1	name
12905796	CV413256	single nucleotide variant	NM_018122.5(DARS2):c.1568G>A (p.Arg523His)	not provided [RCV000488006]	uncertain significance	1	173853799	173853799	Human		name
12906816	CV414746	single nucleotide variant	NM_018122.5(DARS2):c.1762C>G (p.Leu588Val)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV001662476]\|not provided [RCV000489689]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	173857529	173857529	Human	1	name
13474932	CV442671	single nucleotide variant	NM_018122.5(DARS2):c.1504C>G (p.His502Asp)	not provided [RCV000519764]	uncertain significance	1	173853508	173853508	Human		name
13488219	CV442672	single nucleotide variant	NM_018122.5(DARS2):c.1567C>T (p.Arg523Cys)	not provided [RCV000523497]	uncertain significance	1	173853798	173853798	Human		name
13788626	CV549863	indel	NM_018122.5(DARS2):c.227+28_227+29delinsTT	not provided [RCV000676384]	benign	1	173826814	173826815	Human		name
28889666	CV862831	single nucleotide variant	NM_018122.5(DARS2):c.1241T>C (p.Val414Ala)	Inborn genetic diseases [RCV003339502]\|Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV001099514]\|not provided [RCV001303578]	uncertain significance	1	173850376	173850376	Human	2	name
28894669	CV862832	single nucleotide variant	NM_018122.5(DARS2):c.1305A>T (p.Glu435Asp)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV001101496]	uncertain significance	1	173850440	173850440	Human	1	name
28894673	CV862833	single nucleotide variant	NM_018122.5(DARS2):c.1390G>C (p.Glu464Gln)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV001101497]	uncertain significance	1	173853394	173853394	Human	1	name
28894677	CV862834	single nucleotide variant	NM_018122.5(DARS2):c.1588G>A (p.Val530Ile)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV001101498]	uncertain significance	1	173853819	173853819	Human	1	name
407428693	CV3410356	microsatellite	NM_018122.5(DARS2):c.119_120dup (p.Ile41fs)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV004587963]	pathogenic	1	173825345	173825346	Human		name
13517865	CV493319	deletion	NM_018122.5(DARS2):c.159_160del (p.Cys54fs)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005252987]\|not provided [RCV000596893]	pathogenic\|likely pathogenic	1	173826718	173826719	Human	1	name
598225910	CV3892965	microsatellite	NM_018122.5(DARS2):c.822_825del (p.Arg274fs)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005255292]	likely pathogenic	1	173838234	173838237	Human		name
150540358	CV1314483	deletion	NM_018122.5(DARS2):c.1173_1179del (p.Ala392fs)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005253888]\|not provided [RCV002034584]	pathogenic\|likely pathogenic	1	173845272	173845278	Human	1	name
151887081	CV1464446	deletion	NM_018122.5(DARS2):c.1395_1396del (p.Gly467fs)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005253975]\|not provided [RCV001942313]	pathogenic	1	173853399	173853400	Human	1	name
156053207	CV2137166	deletion	NM_018122.5(DARS2):c.1083_1086del (p.Lys362fs)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV005254659]\|not provided [RCV002999943]	pathogenic\|likely pathogenic	1	173840926	173840929	Human	1	name
151804879	CV1429798	deletion	NM_018122.5(DARS2):c.1386_1388del (p.Leu463del)	not provided [RCV001974246]	uncertain significance	1	173853388	173853390	Human		name
150332696	CV1170625	insertion	NM_018122.5(DARS2):c.127+92_127+93insTATTATTATTAT	not provided [RCV001539153]	likely benign	1	173825448	173825449	Human		name
13520994	CV495205	indel	NM_018122.5(DARS2):c.1272_1273delinsC (p.Glu425fs)	not provided [RCV000599088]	pathogenic	1	173850407	173850408	Human		name
150428801	CV1186078	insertion	NM_018122.5(DARS2):c.127+92_127+93insTATTATTATTATTAT	not provided [RCV001562746]	likely benign	1	173825448	173825449	Human		name
405262125	CV3184871	indel	NM_018122.5(DARS2):c.1675-1256_*115delinsGCAACATTTCGGCAACATTCCAACC	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [RCV003885438]	pathogenic	1	173855410	173857820	Human		name

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