Rars2 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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957 records found for search term Rars2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
10398661	CV204466	single nucleotide variant	RARS2, -2A-G	Pontocerebellar hypoplasia type 6 [RCV000190402]	pathogenic				Human		name
150420928	CV1197598	single nucleotide variant	NM_020320.5(RARS2):c.-1C>G	not provided [RCV001577823]	uncertain significance	6	87589958	87589958	Human		name
8692629	CV142596	single nucleotide variant	NM_020320.5(RARS2):c.-8A>C	Pontocerebellar hypoplasia type 6 [RCV000397282]\|RARS2-related disorder [RCV003965065]\|not specified [RCV000193180]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	87589965	87589965	Human	1	name , trait , alternate_id
21071534	CV790667	single nucleotide variant	NM_020320.5(RARS2):c.-2A>G	Pontocerebellar hypoplasia type 6 [RCV000987753]\|not provided [RCV000118121]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	6	87589959	87589959	Human	1	name
150426563	CV1187143	single nucleotide variant	NM_020320.5(RARS2):c.*55G>T	not provided [RCV001559735]	likely benign	6	87514358	87514358	Human		name
8692628	CV142595	single nucleotide variant	NM_020320.4(RARS2):c.-34T>G	not specified [RCV000127723]	benign	6	87589991	87589991	Human		name
11604348	CV304374	single nucleotide variant	NM_020320.5(RARS2):c.-13C>T	Pontocerebellar hypoplasia type 6 [RCV000308701]\|not specified [RCV000442454]	benign\|likely benign\|uncertain significance	6	87589970	87589970	Human	1	name
12840385	CV368791	single nucleotide variant	NM_020320.5(RARS2):c.-12G>A	not specified [RCV000430606]	likely benign	6	87589969	87589969	Human		name
127282957	CV1074108	single nucleotide variant	NM_020320.5(RARS2):c.36+9C>A	not provided [RCV001411481]	likely benign	6	87589913	87589913	Human		name
127279233	CV1074109	single nucleotide variant	NM_020320.5(RARS2):c.36+8T>C	not provided [RCV001408957]	likely benign	6	87589914	87589914	Human		name
127291772	CV1138175	single nucleotide variant	NM_020320.5(RARS2):c.36+7A>G	not provided [RCV001496360]	likely benign	6	87589915	87589915	Human		name
150504802	CV1211466	duplication	NM_020320.5(RARS2):c.*101dup	RARS2-related disorder [RCV003980737]\|not provided [RCV001595631]	benign	6	87514311	87514312	Human	1	name , trait , alternate_id
150445473	CV1248309	single nucleotide variant	NM_020320.5(RARS2):c.*241C>T	not provided [RCV001667015]	benign	6	87514172	87514172	Human		name
150497493	CV1281388	deletion	NM_020320.5(RARS2):c.*101del	not provided [RCV001717860]	benign	6	87514312	87514312	Human		name
150493595	CV1282077	single nucleotide variant	NM_020320.5(RARS2):c.36+4T>C	Inborn genetic diseases [RCV002538659]\|not provided [RCV001717040]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	87589918	87589918	Human	1	name
150488331	CV1283998	single nucleotide variant	NM_020320.5(RARS2):c.*115G>A	not provided [RCV001716084]	benign	6	87514298	87514298	Human		name
152040526	CV1644151	single nucleotide variant	NM_020320.5(RARS2):c.36+9C>G	not provided [RCV002126024]	likely benign	6	87589913	87589913	Human		name
156437643	CV1940976	single nucleotide variant	NM_020320.5(RARS2):c.36+9C>T	not provided [RCV003107183]	likely benign	6	87589913	87589913	Human		name
243051557	CV2415948	single nucleotide variant	NM_020320.5(RARS2):c.36+1G>T	Pontocerebellar hypoplasia type 6 [RCV003148572]\|not provided [RCV003679162]	likely pathogenic	6	87589921	87589921	Human	1	name
401947970	CV2833287	single nucleotide variant	NM_020320.5(RARS2):c.36+2T>A	Pontocerebellar hypoplasia type 6 [RCV003471804]\|not provided [RCV003779094]	likely pathogenic	6	87589920	87589920	Human	1	name
405211239	CV2917207	single nucleotide variant	NM_020320.5(RARS2):c.37-4T>C	not provided [RCV003567197]	likely benign	6	87569594	87569594	Human		name
597847877	CV3792873	deletion	NM_020320.5(RARS2):c.37-3del	not provided [RCV005145009]	benign	6	87569593	87569593	Human		name
598129517	CV3886932	single nucleotide variant	NM_020320.5(RARS2):c.*110G>A	not provided [RCV005244992]	likely benign	6	87514303	87514303	Human		name
38492043	CV960615	single nucleotide variant	NM_020320.5(RARS2):c.36+1G>A	not provided [RCV001239856]	likely pathogenic	6	87589921	87589921	Human		name
126727156	CV1016801	single nucleotide variant	NM_020320.5(RARS2):c.536-5G>A	Pontocerebellar hypoplasia type 6 [RCV001332321]\|not specified [RCV001586133]	uncertain significance	6	87541999	87541999	Human	1	name
127254340	CV1055639	single nucleotide variant	NM_020320.5(RARS2):c.879-1G>C	Pontocerebellar hypoplasia type 6 [RCV003462959]\|not provided [RCV001379135]	pathogenic\|likely pathogenic	6	87524653	87524653	Human	1	name
127251928	CV1055640	single nucleotide variant	NM_020320.5(RARS2):c.771+1G>T	not provided [RCV001378651]	likely pathogenic	6	87530783	87530783	Human		name
127250594	CV1055642	single nucleotide variant	NM_020320.5(RARS2):c.297+1G>A	not provided [RCV001378388]	pathogenic\|likely pathogenic	6	87562701	87562701	Human		name
127265603	CV1060919	deletion	NM_020320.5(RARS2):c.297+1del	not provided [RCV001388495]	pathogenic	6	87562701	87562701	Human		name
127251503	CV1074107	single nucleotide variant	NM_020320.5(RARS2):c.396-9T>C	not provided [RCV001417797]	likely benign	6	87548655	87548655	Human		name
127277156	CV1095672	single nucleotide variant	NM_020320.5(RARS2):c.771+7G>T	not provided [RCV001444224]	likely benign	6	87530777	87530777	Human		name
127233688	CV1095679	single nucleotide variant	NM_020320.5(RARS2):c.298-4T>G	not provided [RCV001421839]	likely benign	6	87555509	87555509	Human		name
127312294	CV1117261	single nucleotide variant	NM_020320.5(RARS2):c.613-7C>T	not provided [RCV001457113]	likely benign	6	87530949	87530949	Human		name
127325495	CV1138165	single nucleotide variant	NM_020320.5(RARS2):c.613-9T>C	not provided [RCV001485819]	likely benign	6	87530951	87530951	Human		name
150424772	CV1183892	single nucleotide variant	NM_020320.5(RARS2):c.213+5G>A	not provided [RCV001557108]	likely benign\|conflicting interpretations of pathogenicity	6	87564125	87564125	Human		name
150411884	CV1197596	single nucleotide variant	NM_020320.5(RARS2):c.37-89A>G	not provided [RCV001574171]	likely benign	6	87569679	87569679	Human		name
151776273	CV1413736	deletion	NM_020320.5(RARS2):c.879-2del	Pontocerebellar hypoplasia type 6 [RCV005042635]\|not provided [RCV001971657]	likely pathogenic	6	87524654	87524654	Human	1	name
151724974	CV1437184	single nucleotide variant	NM_020320.5(RARS2):c.771+2T>G	Pontocerebellar hypoplasia type 6 [RCV003464384]\|not provided [RCV002004151]	likely pathogenic	6	87530782	87530782	Human	1	name
151801069	CV1442234	single nucleotide variant	NM_020320.5(RARS2):c.771+1G>A	not provided [RCV002011576]	likely pathogenic	6	87530783	87530783	Human		name
151738721	CV1455102	single nucleotide variant	NM_020320.5(RARS2):c.772-1G>A	Pontocerebellar hypoplasia type 6 [RCV002492238]\|not provided [RCV002005600]	likely pathogenic	6	87529649	87529649	Human	1	name
152144646	CV1582549	single nucleotide variant	NM_020320.5(RARS2):c.111-6C>T	not provided [RCV002201050]	likely benign	6	87564238	87564238	Human		name
8555856	CV15930	single nucleotide variant	NM_020320.5(RARS2):c.110+5A>G	Pontocerebellar hypoplasia type 6 [RCV000000939]\|not provided [RCV001093189]	pathogenic	6	87569512	87569512	Human	1	name
152037832	CV1596511	single nucleotide variant	NM_020320.5(RARS2):c.535+8C>T	not provided [RCV002125635]	likely benign	6	87545608	87545608	Human		name
152036541	CV1605330	single nucleotide variant	NM_020320.5(RARS2):c.36+10C>T	not provided [RCV002087303]	likely benign	6	87589912	87589912	Human		name
152074814	CV1611120	single nucleotide variant	NM_020320.5(RARS2):c.213+9G>C	not provided [RCV002130073]	likely benign	6	87564121	87564121	Human		name
152039423	CV1617141	single nucleotide variant	NM_020320.5(RARS2):c.535+9A>G	not provided [RCV002087734]	likely benign	6	87545607	87545607	Human		name
152069761	CV1640229	single nucleotide variant	NM_020320.5(RARS2):c.612+9G>T	not provided [RCV002147915]	likely benign	6	87541909	87541909	Human		name
155733771	CV1781109	single nucleotide variant	NM_020320.5(RARS2):c.612+2T>A	not provided [RCV002308897]	likely pathogenic	6	87541916	87541916	Human		name
156361068	CV1874230	single nucleotide variant	NM_020320.5(RARS2):c.974+8G>A	not provided [RCV003065619]	likely benign	6	87524549	87524549	Human		name
156056532	CV1892092	single nucleotide variant	NM_020320.5(RARS2):c.878+5G>T	Pontocerebellar hypoplasia type 6 [RCV003465947]\|not provided [RCV003079068]	likely pathogenic	6	87529537	87529537	Human	1	name
156106003	CV1917214	single nucleotide variant	NM_020320.5(RARS2):c.395+9G>A	not provided [RCV002592450]	likely benign	6	87555399	87555399	Human		name
156050707	CV1931867	single nucleotide variant	NM_020320.5(RARS2):c.974+1G>A	not provided [RCV002620595]	likely pathogenic	6	87524556	87524556	Human		name
156269728	CV1970894	single nucleotide variant	NM_020320.5(RARS2):c.395+2T>C	not provided [RCV002598051]	likely pathogenic	6	87555406	87555406	Human		name
156331165	CV2061350	deletion	NM_020320.5(RARS2):c.395+1del	not provided [RCV002810687]	pathogenic	6	87555407	87555407	Human		name
156115413	CV2065776	single nucleotide variant	NM_020320.5(RARS2):c.395+3G>T	not provided [RCV002871057]	uncertain significance	6	87555405	87555405	Human		name
156111120	CV2069015	single nucleotide variant	NM_020320.5(RARS2):c.396-8T>C	not provided [RCV002870901]	likely benign	6	87548654	87548654	Human		name
156044890	CV2094302	single nucleotide variant	NM_020320.5(RARS2):c.297+7A>G	not provided [RCV002885956]	likely benign	6	87562695	87562695	Human		name
10409608	CV211285	deletion	NM_020320.5(RARS2):c.772-3del	Pontocerebellar hypoplasia type 6 [RCV001273125]\|not provided [RCV001556648]\|not specified [RCV000196463]	pathogenic\|likely pathogenic\|likely benign\|uncertain significance\|no classifications from unflagged records	6	87529651	87529651	Human	1	name
156338242	CV2188182	single nucleotide variant	NM_020320.5(RARS2):c.613-7C>G	not provided [RCV003064088]	uncertain significance	6	87530949	87530949	Human		name
401720618	CV2737282	single nucleotide variant	NM_020320.5(RARS2):c.536-1G>A	Pontocerebellar hypoplasia type 6 [RCV003314221]	likely pathogenic	6	87541995	87541995	Human	1	name
401948090	CV2833268	single nucleotide variant	NM_020320.5(RARS2):c.452-1G>A	Pontocerebellar hypoplasia type 6 [RCV003471794]	likely pathogenic	6	87545700	87545700	Human	1	name
401948084	CV2833271	single nucleotide variant	NM_020320.5(RARS2):c.297+1G>T	Pontocerebellar hypoplasia type 6 [RCV003471796]\|not provided [RCV003689097]	pathogenic\|likely pathogenic	6	87562701	87562701	Human	1	name
401948081	CV2833272	single nucleotide variant	NM_020320.5(RARS2):c.395+1G>A	Pontocerebellar hypoplasia type 6 [RCV003471797]\|not provided [RCV003661063]	likely pathogenic	6	87555407	87555407	Human	1	name
401948076	CV2833275	single nucleotide variant	NM_020320.5(RARS2):c.297+1G>C	Pontocerebellar hypoplasia type 6 [RCV003471799]\|Pontoneocerebellar hypoplasia [RCV003492880]\|not provided [RCV003779093]	pathogenic\|likely pathogenic	6	87562701	87562701	Human	3	name
401947979	CV2833294	single nucleotide variant	NM_020320.5(RARS2):c.535+2T>G	Pontocerebellar hypoplasia type 6 [RCV003471808]	likely pathogenic	6	87545614	87545614	Human	1	name
401943963	CV2833299	single nucleotide variant	NM_020320.5(RARS2):c.111-2A>G	Pontocerebellar hypoplasia type 6 [RCV003463479]\|not provided [RCV003779095]	likely pathogenic	6	87564234	87564234	Human	1	name
404993257	CV2852663	single nucleotide variant	NM_020320.5(RARS2):c.213+4C>T	RARS2-related disorder [RCV003954226]\|not specified [RCV003490843]	likely benign\|uncertain significance	6	87564126	87564126	Human	1	name , trait , alternate_id
402514506	CV2855572	single nucleotide variant	NM_020320.5(RARS2):c.396-1G>A	not provided [RCV003547291]	likely pathogenic	6	87548647	87548647	Human		name
402492248	CV2863190	single nucleotide variant	NM_020320.5(RARS2):c.613-1G>A	not provided [RCV003573132]	likely pathogenic	6	87530943	87530943	Human		name
405237364	CV2881157	single nucleotide variant	NM_020320.5(RARS2):c.396-2A>G	not provided [RCV003556661]	likely pathogenic	6	87548648	87548648	Human		name
402464648	CV2916368	deletion	NM_020320.5(RARS2):c.396-5del	not provided [RCV003569061]	benign	6	87548651	87548651	Human		name
405185278	CV2921215	single nucleotide variant	NM_020320.5(RARS2):c.37-19T>G	not provided [RCV003564394]	likely benign	6	87569609	87569609	Human		name
402503459	CV2933379	single nucleotide variant	NM_020320.5(RARS2):c.37-13T>A	not provided [RCV003574233]	likely benign	6	87569603	87569603	Human		name
402521344	CV2940155	single nucleotide variant	NM_020320.5(RARS2):c.36+16C>T	not provided [RCV003663328]	likely benign	6	87589906	87589906	Human		name
405087491	CV2943219	single nucleotide variant	NM_020320.5(RARS2):c.37-15C>G	not provided [RCV003664980]	likely benign	6	87569605	87569605	Human		name
405069156	CV2944734	single nucleotide variant	NM_020320.5(RARS2):c.536-6T>C	not provided [RCV003663875]	likely benign	6	87542000	87542000	Human		name
405172294	CV2961456	single nucleotide variant	NM_020320.5(RARS2):c.110+9T>C	not provided [RCV003675517]	likely benign	6	87569508	87569508	Human		name
405233264	CV2965474	single nucleotide variant	NM_020320.5(RARS2):c.37-16T>C	not provided [RCV003682606]	likely benign	6	87569606	87569606	Human		name
405226684	CV2967178	single nucleotide variant	NM_020320.5(RARS2):c.612+8G>A	not provided [RCV003681541]	likely benign	6	87541910	87541910	Human		name
405212104	CV2974445	duplication	NM_020320.5(RARS2):c.613-3dup	not provided [RCV003679544]	benign	6	87530944	87530945	Human		name
405248587	CV2990269	single nucleotide variant	NM_020320.5(RARS2):c.535+9A>T	not provided [RCV003685954]	likely benign	6	87545607	87545607	Human		name
404993487	CV2995916	single nucleotide variant	NM_020320.5(RARS2):c.37-19T>C	not provided [RCV003692513]	likely benign	6	87569609	87569609	Human		name
405154099	CV3027969	single nucleotide variant	NM_020320.5(RARS2):c.36+16C>A	not provided [RCV003703492]	likely benign	6	87589906	87589906	Human		name
405086575	CV3028517	single nucleotide variant	NM_020320.5(RARS2):c.535+1G>C	not provided [RCV003699443]	likely pathogenic	6	87545615	87545615	Human		name
405182728	CV3031874	single nucleotide variant	NM_020320.5(RARS2):c.36+13G>A	not provided [RCV003705702]	likely benign	6	87589909	87589909	Human		name
11600138	CV304366	single nucleotide variant	NM_020320.5(RARS2):c.879-6T>C	Pontocerebellar hypoplasia type 6 [RCV000271469]\|RARS2-related disorder [RCV003902394]\|not provided [RCV000876768]	benign\|uncertain significance	6	87524658	87524658	Human	1	name , trait , alternate_id
405216944	CV3055773	single nucleotide variant	NM_020320.5(RARS2):c.36+16C>G	not provided [RCV003732775]	likely benign	6	87589906	87589906	Human		name
405194457	CV3062823	single nucleotide variant	NM_020320.5(RARS2):c.36+20C>T	not provided [RCV003730038]	likely benign	6	87589902	87589902	Human		name
405032892	CV3075104	single nucleotide variant	NM_020320.5(RARS2):c.536-8C>T	not provided [RCV003739281]	likely benign	6	87542002	87542002	Human		name
405119499	CV3131099	single nucleotide variant	NM_020320.5(RARS2):c.36+17G>C	not provided [RCV003837155]	likely benign	6	87589905	87589905	Human		name
404986105	CV3135420	single nucleotide variant	NM_020320.5(RARS2):c.772-4T>C	not provided [RCV003826715]	likely benign	6	87529652	87529652	Human		name
405083544	CV3137591	single nucleotide variant	NM_020320.5(RARS2):c.36+15G>A	not provided [RCV003834300]	likely benign	6	87589907	87589907	Human		name
405251796	CV3181358	single nucleotide variant	NM_020320.5(RARS2):c.36+11C>T	not provided [RCV003870360]	likely benign	6	87589911	87589911	Human		name
405281045	CV3223840	single nucleotide variant	NM_020320.5(RARS2):c.878+3A>G	not specified [RCV003988218]	uncertain significance	6	87529539	87529539	Human		name
405867838	CV3396663	single nucleotide variant	NM_020320.5(RARS2):c.612+2T>G	Pontocerebellar hypoplasia type 6 [RCV004560535]	likely pathogenic	6	87541916	87541916	Human	1	name
405871167	CV3399266	single nucleotide variant	NM_020320.5(RARS2):c.298-1G>A	Pontocerebellar hypoplasia type 6 [RCV004574697]	pathogenic	6	87555506	87555506	Human	1	name
405871168	CV3399267	single nucleotide variant	NM_020320.5(RARS2):c.613-2A>C	Pontocerebellar hypoplasia type 6 [RCV004574698]	likely pathogenic	6	87530944	87530944	Human	1	name
405871179	CV3399273	single nucleotide variant	NM_020320.5(RARS2):c.451+1G>A	Pontocerebellar hypoplasia type 6 [RCV004574704]	likely pathogenic	6	87548590	87548590	Human	1	name
596931323	CV3531659	deletion	NM_020320.5(RARS2):c.878+5del	not provided [RCV004781221]	uncertain significance	6	87529537	87529537	Human		name
12835080	CV368782	single nucleotide variant	NM_020320.5(RARS2):c.451+9T>C	not specified [RCV000421070]	likely benign	6	87548582	87548582	Human		name
12840438	CV369334	single nucleotide variant	NM_020320.5(RARS2):c.536-7A>G	not provided [RCV002063466]\|not specified [RCV000430710]	likely benign	6	87542001	87542001	Human		name
597686006	CV3718704	single nucleotide variant	NM_020320.5(RARS2):c.214-2A>G	Pontocerebellar hypoplasia type 6 [RCV005045875]	likely pathogenic	6	87562787	87562787	Human	1	name
597686017	CV3718705	single nucleotide variant	NM_020320.5(RARS2):c.110+2T>G	Pontocerebellar hypoplasia type 6 [RCV005045876]	likely pathogenic	6	87569515	87569515	Human	1	name
13526854	CV502117	single nucleotide variant	NM_020320.5(RARS2):c.772-4T>G	not specified [RCV000604695]	likely benign	6	87529652	87529652	Human		name
15132470	CV775108	single nucleotide variant	NM_020320.5(RARS2):c.878+7T>C	not provided [RCV000942405]	likely benign	6	87529535	87529535	Human		name
15127042	CV775225	single nucleotide variant	NM_020320.5(RARS2):c.974+8G>T	not provided [RCV000941482]	likely benign	6	87524549	87524549	Human		name
15106118	CV787484	single nucleotide variant	NM_020320.5(RARS2):c.110+8A>G	not provided [RCV000976572]	likely benign	6	87569509	87569509	Human		name
38487323	CV940053	single nucleotide variant	NM_020320.5(RARS2):c.297+2T>G	Pontocerebellar hypoplasia type 6 [RCV002491637]\|not provided [RCV001209269]	pathogenic\|likely pathogenic	6	87562700	87562700	Human	1	name
127247185	CV1074097	single nucleotide variant	NM_020320.5(RARS2):c.1416-6G>C	not provided [RCV001416864]	likely benign	6	87518270	87518270	Human		name
127238735	CV1074105	single nucleotide variant	NM_020320.5(RARS2):c.771+10G>A	not provided [RCV001392526]	likely benign	6	87530774	87530774	Human		name
127257774	CV1095667	single nucleotide variant	NM_020320.5(RARS2):c.1587-9C>G	not provided [RCV001437957]	likely benign	6	87515029	87515029	Human		name
127280753	CV1095677	single nucleotide variant	NM_020320.5(RARS2):c.451+10T>C	not provided [RCV001446707]	likely benign	6	87548581	87548581	Human		name
127308685	CV1117243	single nucleotide variant	NM_020320.5(RARS2):c.1651-8T>C	not provided [RCV001456139]	likely benign	6	87514507	87514507	Human		name
127298986	CV1117246	single nucleotide variant	NM_020320.5(RARS2):c.1512-7C>A	not provided [RCV001460683]	likely benign	6	87516887	87516887	Human		name
127332382	CV1117251	single nucleotide variant	NM_020320.5(RARS2):c.1237+9A>C	not provided [RCV001472182]	likely benign	6	87519574	87519574	Human		name
127321965	CV1117253	single nucleotide variant	NM_020320.5(RARS2):c.1113-7C>T	not provided [RCV001467420]	likely benign	6	87519714	87519714	Human		name
127315229	CV1138163	single nucleotide variant	NM_020320.5(RARS2):c.878+10G>A	not provided [RCV001502660]	likely benign	6	87529532	87529532	Human		name
127308152	CV1138169	single nucleotide variant	NM_020320.5(RARS2):c.395+10C>T	not provided [RCV001500722]	likely benign	6	87555398	87555398	Human		name
127311602	CV1138172	single nucleotide variant	NM_020320.5(RARS2):c.213+10C>T	not provided [RCV001501647]	likely benign	6	87564120	87564120	Human		name
127328613	CV1138173	single nucleotide variant	NM_020320.5(RARS2):c.110+10A>T	not provided [RCV001486868]	likely benign	6	87569507	87569507	Human		name
127320194	CV1155512	duplication	NM_020320.5(RARS2):c.396-12dup	not provided [RCV001522512]	benign	6	87548650	87548651	Human		name
150409155	CV1175149	single nucleotide variant	NM_020320.5(RARS2):c.111-21C>T	Pontocerebellar hypoplasia type 6 [RCV001543860]\|not provided [RCV001638144]	benign	6	87564253	87564253	Human	1	name
150416394	CV1180239	single nucleotide variant	NM_020320.5(RARS2):c.613-48A>G	not provided [RCV001549604]	likely benign	6	87530990	87530990	Human		name
150428444	CV1187144	single nucleotide variant	NM_020320.5(RARS2):c.111-41T>A	not provided [RCV001562277]	likely benign	6	87564273	87564273	Human		name
150405808	CV1190566	single nucleotide variant	NM_020320.5(RARS2):c.396-13A>T	not provided [RCV001564452]	benign\|likely benign	6	87548659	87548659	Human		name
150420608	CV1193842	single nucleotide variant	NM_020320.5(RARS2):c.111-50C>A	not provided [RCV001570196]	likely benign	6	87564282	87564282	Human		name
150420915	CV1197597	single nucleotide variant	NM_020320.5(RARS2):c.36+193T>A	not provided [RCV001577818]	likely benign	6	87589729	87589729	Human		name
150495305	CV1204979	deletion	NM_020320.5(RARS2):c.37-304del	not provided [RCV001593471]	likely benign	6	87569894	87569894	Human		name
150467159	CV1207049	single nucleotide variant	NM_020320.5(RARS2):c.36+283G>C	not provided [RCV001587841]	likely benign	6	87589639	87589639	Human		name
150492523	CV1225491	single nucleotide variant	NM_020320.5(RARS2):c.37-336A>G	not provided [RCV001619006]	benign	6	87569926	87569926	Human		name
150544808	CV1315256	single nucleotide variant	NM_020320.5(RARS2):c.1416-2A>C	Pontocerebellar hypoplasia type 6 [RCV001783670]	likely pathogenic	6	87518266	87518266	Human	1	name
151785589	CV1369425	single nucleotide variant	NM_020320.5(RARS2):c.1511+2T>C	not provided [RCV002046571]	likely pathogenic	6	87518167	87518167	Human		name
8692626	CV142593	single nucleotide variant	NM_020320.5(RARS2):c.111-20G>A	not provided [RCV002055769]\|not specified [RCV000127719]	benign	6	87564252	87564252	Human		name
8692630	CV142597	single nucleotide variant	NM_020320.5(RARS2):c.878+17A>G	not provided [RCV002055770]\|not specified [RCV000127726]	benign	6	87529525	87529525	Human		name
8692631	CV142598	single nucleotide variant	NM_020320.5(RARS2):c.878+19T>G	not provided [RCV002055771]\|not specified [RCV000127727]	benign	6	87529523	87529523	Human		name
8692633	CV142600	single nucleotide variant	NM_020320.5(RARS2):c.975-14C>T	Pontocerebellar hypoplasia type 6 [RCV000306525]\|not provided [RCV002055772]\|not specified [RCV000127729]	benign\|likely benign\|uncertain significance	6	87521538	87521538	Human	1	name
151873231	CV1429686	single nucleotide variant	NM_020320.5(RARS2):c.1587-1G>C	not provided [RCV001998618]	likely pathogenic	6	87515021	87515021	Human		name
151849424	CV1451923	single nucleotide variant	NM_020320.5(RARS2):c.1415+2T>C	Pontocerebellar hypoplasia type 6 [RCV002486675]\|not provided [RCV002016372]	likely pathogenic	6	87518628	87518628	Human	1	name
151716192	CV1472758	single nucleotide variant	NM_020320.5(RARS2):c.1238-2A>G	Pontocerebellar hypoplasia type 6 [RCV003464161]\|not provided [RCV002039374]	likely pathogenic	6	87518893	87518893	Human	1	name
151734677	CV1501267	single nucleotide variant	NM_020320.5(RARS2):c.1511+1G>A	Pontoneocerebellar hypoplasia [RCV003317564]\|not provided [RCV002005150]	likely pathogenic	6	87518168	87518168	Human	2	name
152142314	CV1586627	single nucleotide variant	NM_020320.5(RARS2):c.1036-4C>A	not provided [RCV002178220]	likely benign	6	87520260	87520260	Human		name
152068006	CV1600459	single nucleotide variant	NM_020320.5(RARS2):c.297+16T>C	not provided [RCV002111060]	likely benign	6	87562686	87562686	Human		name
152054281	CV1633028	single nucleotide variant	NM_020320.5(RARS2):c.1416-9T>C	not provided [RCV002127584]	likely benign	6	87518273	87518273	Human		name
152043753	CV1637737	single nucleotide variant	NM_020320.5(RARS2):c.1511+7T>C	not provided [RCV002144842]	likely benign	6	87518162	87518162	Human		name
152138149	CV1657790	single nucleotide variant	NM_020320.5(RARS2):c.1036-5C>T	not provided [RCV002177694]	likely benign	6	87520261	87520261	Human		name
155803730	CV1858296	single nucleotide variant	NM_020320.5(RARS2):c.1237+1G>C	Pontocerebellar hypoplasia type 6 [RCV003465770]\|not provided [RCV002462605]	likely pathogenic	6	87519582	87519582	Human	1	name
156173726	CV1881487	single nucleotide variant	NM_020320.5(RARS2):c.975-18A>C	not provided [RCV003083319]	likely benign	6	87521542	87521542	Human		name
156363423	CV1881511	single nucleotide variant	NM_020320.5(RARS2):c.214-18G>A	not provided [RCV003065786]	likely benign	6	87562803	87562803	Human		name
156403201	CV1885681	single nucleotide variant	NM_020320.5(RARS2):c.1650+4C>T	not provided [RCV003069424]\|not specified [RCV004765663]	uncertain significance	6	87514953	87514953	Human		name
156361843	CV1899056	single nucleotide variant	NM_020320.5(RARS2):c.879-17C>G	not provided [RCV003091764]	likely benign	6	87524669	87524669	Human		name
156214935	CV1903250	single nucleotide variant	NM_020320.5(RARS2):c.1415+6A>G	not provided [RCV003084757]	uncertain significance	6	87518624	87518624	Human		name
156129014	CV1924532	single nucleotide variant	NM_020320.5(RARS2):c.536-16C>T	not provided [RCV002640638]	likely benign	6	87542010	87542010	Human		name
156354111	CV1962241	single nucleotide variant	NM_020320.5(RARS2):c.1586+8A>G	not provided [RCV002581268]	likely benign	6	87516798	87516798	Human		name
155902402	CV1999263	single nucleotide variant	NM_020320.5(RARS2):c.1416-8T>C	not provided [RCV002681184]	likely benign	6	87518272	87518272	Human		name
156308320	CV1999943	single nucleotide variant	NM_020320.5(RARS2):c.111-16C>T	not provided [RCV002671493]	likely benign	6	87564248	87564248	Human		name
156232412	CV2024532	single nucleotide variant	NM_020320.5(RARS2):c.1113-4T>G	not provided [RCV002745357]	likely benign	6	87519711	87519711	Human		name
156371509	CV2031154	single nucleotide variant	NM_020320.5(RARS2):c.536-10A>G	not provided [RCV002721552]	likely benign	6	87542004	87542004	Human		name
156373451	CV2052594	single nucleotide variant	NM_020320.5(RARS2):c.1415+8G>T	not provided [RCV002814485]	likely benign	6	87518622	87518622	Human		name
155958728	CV2087173	single nucleotide variant	NM_020320.5(RARS2):c.1416-1G>A	not provided [RCV002862752]	likely pathogenic	6	87518265	87518265	Human		name
155969287	CV2139636	single nucleotide variant	NM_020320.5(RARS2):c.1511+4T>G	Inborn genetic diseases [RCV002995545]\|not provided [RCV002995546]\|not specified [RCV005239587]	uncertain significance	6	87518165	87518165	Human	1	name
156082863	CV2144560	single nucleotide variant	NM_020320.5(RARS2):c.1512-1G>A	Pontocerebellar hypoplasia type 6 [RCV003464650]\|not provided [RCV003020408]	likely pathogenic	6	87516881	87516881	Human	1	name
156025708	CV2145667	single nucleotide variant	NM_020320.5(RARS2):c.1650+8A>T	not provided [RCV003018447]	likely benign	6	87514949	87514949	Human		name
156372008	CV2174673	single nucleotide variant	NM_020320.5(RARS2):c.1112+2T>A	not provided [RCV003049780]	likely pathogenic	6	87520178	87520178	Human		name
11548039	CV252542	single nucleotide variant	NM_020320.5(RARS2):c.111-19T>G	Pontocerebellar hypoplasia type 6 [RCV001543859]\|not provided [RCV001711825]\|not specified [RCV000248561]	benign	6	87564251	87564251	Human	1	name
401943894	CV2833261	single nucleotide variant	NM_020320.5(RARS2):c.1306-1G>A	Pontocerebellar hypoplasia type 6 [RCV003463457]	likely pathogenic	6	87518740	87518740	Human	1	name
401948074	CV2833277	single nucleotide variant	NM_020320.5(RARS2):c.1650+1G>T	Pontocerebellar hypoplasia type 6 [RCV003471800]\|not provided [RCV003738472]	pathogenic\|likely pathogenic	6	87514956	87514956	Human	1	name
401943937	CV2833284	single nucleotide variant	NM_020320.5(RARS2):c.1305+2T>C	Pontocerebellar hypoplasia type 6 [RCV003463470]	likely pathogenic	6	87518822	87518822	Human	1	name
401943948	CV2833292	single nucleotide variant	NM_020320.5(RARS2):c.1035+2T>G	Pontocerebellar hypoplasia type 6 [RCV003463474]\|not provided [RCV003689098]	likely pathogenic	6	87521462	87521462	Human	1	name
401943955	CV2833296	single nucleotide variant	NM_020320.5(RARS2):c.1415+1G>A	Pontocerebellar hypoplasia type 6 [RCV003463476]\|not provided [RCV003553965]	likely pathogenic	6	87518629	87518629	Human	1	name
401943960	CV2833298	single nucleotide variant	NM_020320.5(RARS2):c.1113-2A>G	Pontocerebellar hypoplasia type 6 [RCV003463478]\|not provided [RCV003679224]	likely pathogenic	6	87519709	87519709	Human	1	name
402475717	CV2857045	single nucleotide variant	NM_020320.5(RARS2):c.298-19A>G	not provided [RCV003543337]	likely benign	6	87555524	87555524	Human		name
405083127	CV2865025	deletion	NM_020320.5(RARS2):c.772-15del	not provided [RCV003549380]	likely benign	6	87529663	87529663	Human		name
405195927	CV2868816	single nucleotide variant	NM_020320.5(RARS2):c.613-15C>T	not provided [RCV003550829]	likely benign	6	87530957	87530957	Human		name
405219439	CV2870119	single nucleotide variant	NM_020320.5(RARS2):c.1512-8T>A	not provided [RCV003553656]	likely benign	6	87516888	87516888	Human		name
402499423	CV2872004	deletion	NM_020320.5(RARS2):c.1587-9del	not provided [RCV003545746]	likely benign	6	87515029	87515029	Human		name
405194609	CV2872395	single nucleotide variant	NM_020320.5(RARS2):c.1035+1G>T	not provided [RCV003550671]	likely pathogenic	6	87521463	87521463	Human		name
402521562	CV2899981	single nucleotide variant	NM_020320.5(RARS2):c.772-16T>A	not provided [RCV003575897]	likely benign	6	87529664	87529664	Human		name
402521665	CV2900003	single nucleotide variant	NM_020320.5(RARS2):c.771+19T>G	not provided [RCV003575905]	likely benign	6	87530765	87530765	Human		name
405112079	CV2900389	single nucleotide variant	NM_020320.5(RARS2):c.613-13A>G	not provided [RCV003558022]	likely benign	6	87530955	87530955	Human		name
402473168	CV2908828	single nucleotide variant	NM_020320.5(RARS2):c.613-10G>A	not provided [RCV003570931]	likely benign	6	87530952	87530952	Human		name
405180355	CV2913967	single nucleotide variant	NM_020320.5(RARS2):c.1587-7G>A	not provided [RCV003563905]	likely benign	6	87515027	87515027	Human		name
405202519	CV2915031	single nucleotide variant	NM_020320.5(RARS2):c.1650+8A>G	not provided [RCV003566089]	likely benign	6	87514949	87514949	Human		name
402474535	CV2919535	single nucleotide variant	NM_020320.5(RARS2):c.110+11A>T	not provided [RCV003571081]	likely benign	6	87569506	87569506	Human		name
405070136	CV2933313	single nucleotide variant	NM_020320.5(RARS2):c.395+11A>G	not provided [RCV003581064]	likely benign	6	87555397	87555397	Human		name
402525331	CV2937127	single nucleotide variant	NM_020320.5(RARS2):c.612+12A>G	not provided [RCV003663609]	likely benign	6	87541906	87541906	Human		name
405100652	CV2948115	single nucleotide variant	NM_020320.5(RARS2):c.1587-7G>C	not provided [RCV003666101]	likely benign	6	87515027	87515027	Human		name
405175839	CV2951870	single nucleotide variant	NM_020320.5(RARS2):c.213+15T>G	not provided [RCV003675820]	likely benign	6	87564115	87564115	Human		name
405121196	CV2952316	single nucleotide variant	NM_020320.5(RARS2):c.298-18C>T	not provided [RCV003671415]	likely benign	6	87555523	87555523	Human		name
405130238	CV2953646	single nucleotide variant	NM_020320.5(RARS2):c.536-18T>C	not provided [RCV003672344]	likely benign	6	87542012	87542012	Human		name
405173868	CV2955377	single nucleotide variant	NM_020320.5(RARS2):c.297+18T>C	not provided [RCV003675603]	likely benign	6	87562684	87562684	Human		name
405118333	CV2955717	single nucleotide variant	NM_020320.5(RARS2):c.395+15C>A	not provided [RCV003671120]	likely benign	6	87555393	87555393	Human		name
405151218	CV2957072	single nucleotide variant	NM_020320.5(RARS2):c.395+19T>G	not provided [RCV003670072]	likely benign	6	87555389	87555389	Human		name
405214415	CV2971335	single nucleotide variant	NM_020320.5(RARS2):c.771+19T>A	not provided [RCV003679730]	likely benign	6	87530765	87530765	Human		name
405236046	CV2973320	single nucleotide variant	NM_020320.5(RARS2):c.1036-5C>A	not provided [RCV003683099]	uncertain significance	6	87520261	87520261	Human		name
402496755	CV2988604	single nucleotide variant	NM_020320.5(RARS2):c.771+18C>G	not provided [RCV003714258]	likely benign	6	87530766	87530766	Human		name
402478870	CV2990308	duplication	NM_020320.5(RARS2):c.878+17dup	not provided [RCV003686382]	likely benign	6	87529524	87529525	Human		name
405016649	CV2991659	single nucleotide variant	NM_020320.5(RARS2):c.975-15G>A	not provided [RCV003694464]	likely benign	6	87521539	87521539	Human		name
404996570	CV2992566	single nucleotide variant	NM_020320.5(RARS2):c.395+14C>G	not provided [RCV003692759]	likely benign	6	87555394	87555394	Human		name
402497129	CV3006015	single nucleotide variant	NM_020320.5(RARS2):c.772-16T>C	not provided [RCV003688121]	likely benign	6	87529664	87529664	Human		name
405032976	CV3009253	single nucleotide variant	NM_020320.5(RARS2):c.395+12C>T	not provided [RCV003695711]	likely benign	6	87555396	87555396	Human		name
404978603	CV3012269	deletion	NM_020320.5(RARS2):c.1650+1del	not provided [RCV003690756]	pathogenic	6	87514956	87514956	Human		name
402524526	CV3015108	single nucleotide variant	NM_020320.5(RARS2):c.111-15G>C	not provided [RCV003690543]	likely benign	6	87564247	87564247	Human		name
405161105	CV3021456	single nucleotide variant	NM_020320.5(RARS2):c.213+14A>C	not provided [RCV003703908]	likely benign	6	87564116	87564116	Human		name
405161977	CV3021667	single nucleotide variant	NM_020320.5(RARS2):c.396-16C>T	not provided [RCV003704028]	likely benign	6	87548662	87548662	Human		name
405060994	CV3029970	deletion	NM_020320.5(RARS2):c.297+18del	not provided [RCV003697659]	likely benign	6	87562684	87562684	Human		name
405118340	CV3030448	duplication	NM_020320.5(RARS2):c.110+13dup	not provided [RCV003700481]	likely benign	6	87569503	87569504	Human		name
405183699	CV3032015	single nucleotide variant	NM_020320.5(RARS2):c.1650+9T>C	not provided [RCV003705799]	likely benign	6	87514948	87514948	Human		name
402486927	CV3034029	deletion	NM_020320.5(RARS2):c.879-12del	not provided [RCV003713389]	benign	6	87524664	87524664	Human		name
405156331	CV3037392	single nucleotide variant	NM_020320.5(RARS2):c.974+14G>C	not provided [RCV003703645]	likely benign	6	87524543	87524543	Human		name
405195371	CV3037555	single nucleotide variant	NM_020320.5(RARS2):c.1306-4T>G	not provided [RCV003706856]	likely benign	6	87518743	87518743	Human		name
405242439	CV3042803	single nucleotide variant	NM_020320.5(RARS2):c.878+16T>C	not provided [RCV003719491]	likely benign	6	87529526	87529526	Human		name
405252968	CV3044142	single nucleotide variant	NM_020320.5(RARS2):c.396-12T>A	not provided [RCV003722369]	likely benign	6	87548658	87548658	Human		name
405132282	CV3051265	single nucleotide variant	NM_020320.5(RARS2):c.298-13C>G	not provided [RCV003724933]	likely benign	6	87555518	87555518	Human		name
405250788	CV3053134	single nucleotide variant	NM_020320.5(RARS2):c.396-13A>G	not provided [RCV003721718]	likely benign	6	87548659	87548659	Human		name
405180547	CV3060359	single nucleotide variant	NM_020320.5(RARS2):c.536-17A>G	not provided [RCV003728612]	likely benign	6	87542011	87542011	Human		name
405158277	CV3061554	single nucleotide variant	NM_020320.5(RARS2):c.213+18T>C	not provided [RCV003726914]	likely benign	6	87564112	87564112	Human		name
405209598	CV3062092	single nucleotide variant	NM_020320.5(RARS2):c.451+12G>A	not provided [RCV003731805]	likely benign	6	87548579	87548579	Human		name
405212353	CV3063043	single nucleotide variant	NM_020320.5(RARS2):c.974+18G>A	not provided [RCV003732105]	likely benign	6	87524539	87524539	Human		name
405043336	CV3064170	single nucleotide variant	NM_020320.5(RARS2):c.613-18G>A	not provided [RCV003740002]	likely benign	6	87530960	87530960	Human		name
405190132	CV3069244	single nucleotide variant	NM_020320.5(RARS2):c.110+18T>C	not provided [RCV003729539]	likely benign	6	87569499	87569499	Human		name
405241624	CV3070379	single nucleotide variant	NM_020320.5(RARS2):c.297+15A>G	not provided [RCV003737401]	likely benign	6	87562687	87562687	Human		name
405031826	CV3077700	single nucleotide variant	NM_020320.5(RARS2):c.772-11A>C	not provided [RCV003739206]	likely benign	6	87529659	87529659	Human		name
405235815	CV3079367	single nucleotide variant	NM_020320.5(RARS2):c.213+19C>T	not provided [RCV003735810]	likely benign	6	87564111	87564111	Human		name
405236956	CV3080656	single nucleotide variant	NM_020320.5(RARS2):c.975-13C>T	not provided [RCV003736064]	likely benign	6	87521537	87521537	Human		name
11648124	CV308982	single nucleotide variant	NM_020320.5(RARS2):c.1511+3A>G	Pontocerebellar hypoplasia type 6 [RCV000280406]	uncertain significance	6	87518166	87518166	Human	1	name
11660703	CV308999	single nucleotide variant	NM_020320.5(RARS2):c.1036-9C>T	Pontocerebellar hypoplasia type 6 [RCV000369663]\|not provided [RCV003565414]	likely benign\|uncertain significance	6	87520265	87520265	Human	1	name
405136339	CV3115737	single nucleotide variant	NM_020320.5(RARS2):c.772-20T>C	not provided [RCV003816394]	likely benign	6	87529668	87529668	Human		name
404983831	CV3121570	single nucleotide variant	NM_020320.5(RARS2):c.395+13C>A	not provided [RCV003826369]	likely benign	6	87555395	87555395	Human		name
405167735	CV3122270	single nucleotide variant	NM_020320.5(RARS2):c.879-17C>A	not provided [RCV003818859]	likely benign	6	87524669	87524669	Human		name
405135876	CV3130581	single nucleotide variant	NM_020320.5(RARS2):c.395+11A>T	not provided [RCV003838814]	likely benign	6	87555397	87555397	Human		name
405141591	CV3131257	single nucleotide variant	NM_020320.5(RARS2):c.771+11A>G	not provided [RCV003839297]	likely benign	6	87530773	87530773	Human		name
405107081	CV3136227	deletion	NM_020320.5(RARS2):c.110+19del	not provided [RCV003835573]	likely benign	6	87569498	87569498	Human		name
405105552	CV3139908	single nucleotide variant	NM_020320.5(RARS2):c.111-14A>G	not provided [RCV003835319]	likely benign	6	87564246	87564246	Human		name
405068946	CV3145231	single nucleotide variant	NM_020320.5(RARS2):c.771+14C>T	not provided [RCV003850816]	likely benign	6	87530770	87530770	Human		name
405165582	CV3149388	single nucleotide variant	NM_020320.5(RARS2):c.878+17A>C	not provided [RCV003841050]	likely benign	6	87529525	87529525	Human		name
405175074	CV3152224	single nucleotide variant	NM_020320.5(RARS2):c.213+19C>G	not provided [RCV003858179]	likely benign	6	87564111	87564111	Human		name
405151374	CV3162936	single nucleotide variant	NM_020320.5(RARS2):c.536-19T>C	not provided [RCV003856379]	likely benign	6	87542013	87542013	Human		name
405134298	CV3163969	single nucleotide variant	NM_020320.5(RARS2):c.536-12T>C	not provided [RCV003854957]	likely benign	6	87542006	87542006	Human		name
405234434	CV3168423	single nucleotide variant	NM_020320.5(RARS2):c.214-14T>C	not provided [RCV003865897]	likely benign	6	87562799	87562799	Human		name
405255608	CV3172589	single nucleotide variant	NM_020320.5(RARS2):c.612+11A>G	not provided [RCV003872527]	likely benign	6	87541907	87541907	Human		name
405254410	CV3175117	single nucleotide variant	NM_020320.5(RARS2):c.451+19A>G	not provided [RCV003871569]	likely benign	6	87548572	87548572	Human		name
404990543	CV3176228	single nucleotide variant	NM_020320.5(RARS2):c.879-11C>T	not provided [RCV003881553]	likely benign	6	87524663	87524663	Human		name
402510762	CV3178327	single nucleotide variant	NM_020320.5(RARS2):c.771+11A>C	not provided [RCV003878944]	likely benign	6	87530773	87530773	Human		name
405229357	CV3180425	single nucleotide variant	NM_020320.5(RARS2):c.214-15A>T	not provided [RCV003864846]	likely benign	6	87562800	87562800	Human		name
405249713	CV3180522	single nucleotide variant	NM_020320.5(RARS2):c.452-19A>G	not provided [RCV003869799]	likely benign	6	87545718	87545718	Human		name
405871159	CV3399261	single nucleotide variant	NM_020320.5(RARS2):c.1416-1G>C	Pontocerebellar hypoplasia type 6 [RCV004574692]	likely pathogenic	6	87518265	87518265	Human	1	name
405871160	CV3399262	single nucleotide variant	NM_020320.5(RARS2):c.1651-2A>G	Pontocerebellar hypoplasia type 6 [RCV004574693]	pathogenic	6	87514501	87514501	Human	1	name
12834274	CV369098	single nucleotide variant	NM_020320.5(RARS2):c.395+14C>T	not provided [RCV003558381]\|not specified [RCV000420079]	likely benign	6	87555394	87555394	Human		name
12841307	CV369329	single nucleotide variant	NM_020320.5(RARS2):c.879-10G>A	not provided [RCV000885447]	likely benign	6	87524662	87524662	Human		name
597685903	CV3718694	single nucleotide variant	NM_020320.5(RARS2):c.1586+3A>T	Pontocerebellar hypoplasia type 6 [RCV005045865]	likely pathogenic	6	87516803	87516803	Human	1	name
597685915	CV3718695	single nucleotide variant	NM_020320.5(RARS2):c.1586+1G>T	Pontocerebellar hypoplasia type 6 [RCV005045866]\|not provided [RCV005105277]	likely pathogenic	6	87516805	87516805	Human	1	name
597685952	CV3718699	single nucleotide variant	NM_020320.5(RARS2):c.1415+1G>T	Pontocerebellar hypoplasia type 6 [RCV005045870]	likely pathogenic	6	87518629	87518629	Human	1	name
597845697	CV3736321	single nucleotide variant	NM_020320.5(RARS2):c.878+12T>C	not provided [RCV005065669]	likely benign	6	87529530	87529530	Human		name
597949905	CV3746045	single nucleotide variant	NM_020320.5(RARS2):c.297+11G>A	not provided [RCV005079229]	likely benign	6	87562691	87562691	Human		name
597961362	CV3753230	single nucleotide variant	NM_020320.5(RARS2):c.111-12G>A	not provided [RCV005081730]	likely benign	6	87564244	87564244	Human		name
597953978	CV3757124	single nucleotide variant	NM_020320.5(RARS2):c.974+10C>G	not provided [RCV005079985]	likely benign	6	87524547	87524547	Human		name
597926962	CV3819811	single nucleotide variant	NM_020320.5(RARS2):c.1512-2A>C	not provided [RCV005156511]	likely pathogenic	6	87516882	87516882	Human		name
597930719	CV3837610	single nucleotide variant	NM_020320.5(RARS2):c.451+12G>C	not provided [RCV005185770]	likely benign	6	87548579	87548579	Human		name
13508834	CV481454	single nucleotide variant	NM_020320.5(RARS2):c.1237+1G>A	Pontocerebellar hypoplasia type 6 [RCV000578404]	pathogenic	6	87519582	87519582	Human	1	name
13527300	CV502118	single nucleotide variant	NM_020320.5(RARS2):c.111-15G>A	not provided [RCV003558460]\|not specified [RCV000605123]	likely benign	6	87564247	87564247	Human		name
14689513	CV621039	single nucleotide variant	NM_020320.5(RARS2):c.1650+5G>A	Congenital cerebellar hypoplasia [RCV001258002]\|Pontocerebellar hypoplasia type 6 [RCV000779648]\|not provided [RCV003319421]\|not specified [RCV003230590]	likely pathogenic\|uncertain significance	6	87514952	87514952	Human	3	name
14731665	CV662015	single nucleotide variant	NM_020320.5(RARS2):c.974+90T>C	Pontocerebellar hypoplasia type 6 [RCV001543855]\|not provided [RCV000836236]	benign	6	87524467	87524467	Human	1	name
14724503	CV662402	single nucleotide variant	NM_020320.5(RARS2):c.535+60T>C	Pontocerebellar hypoplasia type 6 [RCV001543857]\|not provided [RCV000833014]	likely benign	6	87545556	87545556	Human	1	name
14719467	CV662404	single nucleotide variant	NM_020320.5(RARS2):c.452-21A>G	Pontocerebellar hypoplasia type 6 [RCV001543856]\|not provided [RCV000830791]	benign	6	87545720	87545720	Human	1	name
14723929	CV662430	single nucleotide variant	NM_020320.5(RARS2):c.975-43G>A	Pontocerebellar hypoplasia type 6 [RCV001543854]\|not provided [RCV000832756]	benign	6	87521567	87521567	Human	1	name
14709857	CV662435	single nucleotide variant	NM_020320.5(RARS2):c.878+94C>T	not provided [RCV000827535]	likely benign	6	87529448	87529448	Human		name
15117526	CV695333	single nucleotide variant	NM_020320.5(RARS2):c.1512-6T>C	Inborn genetic diseases [RCV002539170]\|Pontocerebellar hypoplasia type 6 [RCV001830917]\|not provided [RCV000873516]	likely benign\|uncertain significance	6	87516886	87516886	Human	2	name
15113098	CV695334	single nucleotide variant	NM_020320.5(RARS2):c.613-10G>T	not provided [RCV000872665]	likely benign	6	87530952	87530952	Human		name
15188907	CV730441	single nucleotide variant	NM_020320.5(RARS2):c.1306-7G>A	not provided [RCV000887673]	likely benign	6	87518746	87518746	Human		name
15117747	CV759506	single nucleotide variant	NM_020320.5(RARS2):c.1512-4T>C	Pontocerebellar hypoplasia type 6 [RCV001273124]\|not provided [RCV000917851]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	87516884	87516884	Human	1	name
15200700	CV759674	single nucleotide variant	NM_020320.5(RARS2):c.1306-8C>T	Pontocerebellar hypoplasia type 6 [RCV001160818]\|RARS2-related disorder [RCV003950771]\|not provided [RCV000912920]	likely benign\|uncertain significance	6	87518747	87518747	Human	1	name , trait , alternate_id
15124868	CV775227	single nucleotide variant	NM_020320.5(RARS2):c.772-10A>T	not provided [RCV000941111]	likely benign	6	87529658	87529658	Human		name
28868353	CV900277	single nucleotide variant	NM_020320.5(RARS2):c.879-13T>C	Pontocerebellar hypoplasia type 6 [RCV001162443]	uncertain significance	6	87524665	87524665	Human	1	name
38463421	CV920230	single nucleotide variant	NM_020320.5(RARS2):c.1305+1G>A	Pontocerebellar hypoplasia type 6 [RCV001199065]	pathogenic	6	87518823	87518823	Human	1	name
127238356	CV1074102	single nucleotide variant	NM_020320.5(RARS2):c.1035+10C>T	RARS2-related disorder [RCV003963317]\|not provided [RCV001415087]	likely benign	6	87521454	87521454	Human	1	name , trait , alternate_id
150340142	CV1168097	single nucleotide variant	NM_020320.5(RARS2):c.1651-31A>G	not provided [RCV001535033]	likely benign	6	87514530	87514530	Human		name
150409152	CV1175148	single nucleotide variant	NM_020320.5(RARS2):c.451+140G>A	Pontocerebellar hypoplasia type 6 [RCV001543858]\|not provided [RCV001676041]	benign	6	87548451	87548451	Human	1	name
150405543	CV1176828	duplication	NM_020320.5(RARS2):c.1237+36dup	not provided [RCV001544908]	likely benign	6	87519546	87519547	Human		name
150411220	CV1176829	single nucleotide variant	NM_020320.5(RARS2):c.452-299G>A	not provided [RCV001547047]	likely benign	6	87545998	87545998	Human		name
150421644	CV1180237	single nucleotide variant	NM_020320.5(RARS2):c.1238-43C>T	not provided [RCV001552112]	likely benign	6	87518934	87518934	Human		name
150422813	CV1180238	single nucleotide variant	NM_020320.5(RARS2):c.975-212C>G	not provided [RCV001553156]	likely benign	6	87521736	87521736	Human		name
150416171	CV1180241	single nucleotide variant	NM_020320.5(RARS2):c.111-118A>G	not provided [RCV001549472]	likely benign	6	87564350	87564350	Human		name
150429338	CV1187145	single nucleotide variant	NM_020320.5(RARS2):c.111-195T>G	not provided [RCV001563468]	likely benign	6	87564427	87564427	Human		name
150421548	CV1193841	single nucleotide variant	NM_020320.5(RARS2):c.396-105A>G	not provided [RCV001570590]	likely benign	6	87548751	87548751	Human		name
150412782	CV1197595	single nucleotide variant	NM_020320.5(RARS2):c.536-105A>G	not provided [RCV001574434]	likely benign	6	87542099	87542099	Human		name
150437869	CV1201323	duplication	NM_020320.5(RARS2):c.975-178dup	not provided [RCV001583135]	likely benign	6	87521697	87521698	Human		name
150430866	CV1204034	single nucleotide variant	NM_020320.5(RARS2):c.1651-87G>A	not provided [RCV001580809]	likely benign	6	87514586	87514586	Human		name
150508818	CV1214141	single nucleotide variant	NM_020320.5(RARS2):c.214-122G>A	not provided [RCV001596662]	likely benign	6	87562907	87562907	Human		name
150446207	CV1215623	single nucleotide variant	NM_020320.5(RARS2):c.879-173G>A	not provided [RCV001611216]	benign	6	87524825	87524825	Human		name
150486283	CV1225719	single nucleotide variant	NM_020320.5(RARS2):c.975-201T>C	not provided [RCV001617880]	benign	6	87521725	87521725	Human		name
150501953	CV1241089	single nucleotide variant	NM_020320.5(RARS2):c.612+199C>T	not provided [RCV001656985]	benign	6	87541719	87541719	Human		name
150445020	CV1249505	single nucleotide variant	NM_020320.5(RARS2):c.771+300T>G	not provided [RCV001666938]	benign	6	87530484	87530484	Human		name
150485322	CV1250204	single nucleotide variant	NM_020320.5(RARS2):c.396-288G>T	not provided [RCV001673817]	benign	6	87548934	87548934	Human		name
150475659	CV1251748	deletion	NM_020320.5(RARS2):c.535+130del	not provided [RCV001671946]	benign	6	87545486	87545486	Human		name
150462621	CV1273036	single nucleotide variant	NM_020320.5(RARS2):c.111-303C>A	not provided [RCV001693793]	benign	6	87564535	87564535	Human		name
150487820	CV1283900	deletion	NM_020320.5(RARS2):c.772-251del	not provided [RCV001716011]	benign	6	87529899	87529899	Human		name
150514597	CV1285256	single nucleotide variant	NM_020320.5(RARS2):c.536-157A>T	not provided [RCV001722709]	benign	6	87542151	87542151	Human		name
150521118	CV1290854	single nucleotide variant	NM_020320.5(RARS2):c.535+129T>C	not provided [RCV001732498]	benign	6	87545487	87545487	Human		name
150539124	CV1299847	single nucleotide variant	NM_020320.5(RARS2):c.1651-12T>G	not provided [RCV001765316]	uncertain significance	6	87514511	87514511	Human		name
152139165	CV1562774	single nucleotide variant	NM_020320.5(RARS2):c.1587-10C>T	not provided [RCV002100530]	likely benign	6	87515030	87515030	Human		name
152058713	CV1597261	single nucleotide variant	NM_020320.5(RARS2):c.1651-16T>A	not provided [RCV002128089]	likely benign	6	87514515	87514515	Human		name
152095247	CV1603914	single nucleotide variant	NM_020320.5(RARS2):c.1415+10G>C	not provided [RCV002213272]	likely benign	6	87518620	87518620	Human		name
156284721	CV1884734	single nucleotide variant	NM_020320.5(RARS2):c.1112+12A>C	not provided [RCV003061199]	likely benign	6	87520168	87520168	Human		name
156374055	CV1902003	single nucleotide variant	NM_020320.5(RARS2):c.1112+12A>G	not provided [RCV003092709]	likely benign	6	87520168	87520168	Human		name
156416942	CV1970119	single nucleotide variant	NM_020320.5(RARS2):c.1036-16A>G	not provided [RCV002589956]	likely benign	6	87520272	87520272	Human		name
156194519	CV1994828	deletion	NM_020320.5(RARS2):c.1587-18del	not provided [RCV002643419]	likely benign	6	87515038	87515038	Human		name
156308805	CV1999965	single nucleotide variant	NM_020320.5(RARS2):c.1035+11A>G	not provided [RCV002671515]	likely benign	6	87521453	87521453	Human		name
156023442	CV2040833	single nucleotide variant	NM_020320.5(RARS2):c.1415+18G>A	not provided [RCV002795695]	likely benign	6	87518612	87518612	Human		name
156322966	CV2166874	single nucleotide variant	NM_020320.5(RARS2):c.1512-10C>T	not provided [RCV003029300]	likely benign	6	87516890	87516890	Human		name
156325478	CV2184277	single nucleotide variant	NM_020320.5(RARS2):c.1306-11T>A	not provided [RCV003046908]	uncertain significance	6	87518750	87518750	Human		name
11551506	CV252541	single nucleotide variant	NM_020320.5(RARS2):c.1305+18C>T	Pontocerebellar hypoplasia type 6 [RCV001543852]\|not provided [RCV001636810]\|not specified [RCV000253136]	benign	6	87518806	87518806	Human	1	name
405016499	CV2855784	deletion	NM_020320.5(RARS2):c.1587-17del	not provided [RCV003577180]	likely benign	6	87515037	87515037	Human		name
405165538	CV2905898	duplication	NM_020320.5(RARS2):c.1113-11dup	not provided [RCV003562711]	likely benign	6	87519717	87519718	Human		name
402497204	CV2906014	single nucleotide variant	NM_020320.5(RARS2):c.1112+11C>G	not provided [RCV003573623]	likely benign	6	87520169	87520169	Human		name
402479652	CV2909954	single nucleotide variant	NM_020320.5(RARS2):c.1113-10A>G	not provided [RCV003571819]	likely benign	6	87519717	87519717	Human		name
405170062	CV2911726	single nucleotide variant	NM_020320.5(RARS2):c.1512-18G>A	not provided [RCV003562972]	likely benign	6	87516898	87516898	Human		name
405213061	CV2918261	single nucleotide variant	NM_020320.5(RARS2):c.1511+18G>A	not provided [RCV003567409]	likely benign	6	87518151	87518151	Human		name
402485090	CV2931547	single nucleotide variant	NM_020320.5(RARS2):c.1306-12C>G	not provided [RCV003572451]	likely benign	6	87518751	87518751	Human		name
402504363	CV2947456	single nucleotide variant	NM_020320.5(RARS2):c.1113-14G>T	not provided [RCV003661921]	likely benign	6	87519721	87519721	Human		name
405153290	CV2950610	single nucleotide variant	NM_020320.5(RARS2):c.1305+17A>C	not provided [RCV003670203]	likely benign	6	87518807	87518807	Human		name
405163834	CV2960583	single nucleotide variant	NM_020320.5(RARS2):c.1587-12T>C	not provided [RCV003674880]	likely benign	6	87515032	87515032	Human		name
405212605	CV2974406	single nucleotide variant	NM_020320.5(RARS2):c.1305+14C>T	not provided [RCV003679526]	likely benign	6	87518810	87518810	Human		name
402494479	CV2982145	single nucleotide variant	NM_020320.5(RARS2):c.1415+17G>C	not provided [RCV003714049]	likely benign	6	87518613	87518613	Human		name
404983861	CV2986543	single nucleotide variant	NM_020320.5(RARS2):c.1415+12C>G	not provided [RCV003691595]	likely benign	6	87518618	87518618	Human		name
405249024	CV2987128	single nucleotide variant	NM_020320.5(RARS2):c.1035+18A>T	not provided [RCV003686035]	likely benign	6	87521446	87521446	Human		name
404991437	CV2999334	single nucleotide variant	NM_020320.5(RARS2):c.1306-18T>C	not provided [RCV003692320]	likely benign	6	87518757	87518757	Human		name
404987092	CV3001449	single nucleotide variant	NM_020320.5(RARS2):c.1416-18C>T	not provided [RCV003691826]	likely benign	6	87518282	87518282	Human		name
405121775	CV3004145	single nucleotide variant	NM_020320.5(RARS2):c.1651-19T>G	not provided [RCV003723966]	likely benign	6	87514518	87514518	Human		name
405005882	CV3009924	single nucleotide variant	NM_020320.5(RARS2):c.1512-14C>G	not provided [RCV003693515]	likely benign	6	87516894	87516894	Human		name
404978266	CV3012206	single nucleotide variant	NM_020320.5(RARS2):c.1511+18G>C	not provided [RCV003690721]	likely benign	6	87518151	87518151	Human		name
405158673	CV3014423	single nucleotide variant	NM_020320.5(RARS2):c.1112+16T>C	not provided [RCV003703731]	likely benign	6	87520164	87520164	Human		name
405177364	CV3049618	single nucleotide variant	NM_020320.5(RARS2):c.1586+11A>G	not provided [RCV003728460]	likely benign	6	87516795	87516795	Human		name
405252150	CV3050835	single nucleotide variant	NM_020320.5(RARS2):c.1415+16A>C	not provided [RCV003722092]	likely benign	6	87518614	87518614	Human		name
405244116	CV3054147	single nucleotide variant	NM_020320.5(RARS2):c.1113-16A>C	not provided [RCV003719902]	likely benign	6	87519723	87519723	Human		name
405254435	CV3055360	single nucleotide variant	NM_020320.5(RARS2):c.1238-19C>A	not provided [RCV003723010]	likely benign	6	87518910	87518910	Human		name
405180713	CV3057192	single nucleotide variant	NM_020320.5(RARS2):c.1238-20G>A	not provided [RCV003728745]	likely benign	6	87518911	87518911	Human		name
405241376	CV3060986	single nucleotide variant	NM_020320.5(RARS2):c.1305+17A>G	not provided [RCV003737250]	likely benign	6	87518807	87518807	Human		name
405161916	CV3062511	single nucleotide variant	NM_020320.5(RARS2):c.1036-18A>G	not provided [RCV003727097]	likely benign	6	87520274	87520274	Human		name
405205916	CV3068280	single nucleotide variant	NM_020320.5(RARS2):c.1305+12C>T	not provided [RCV003731307]	likely benign	6	87518812	87518812	Human		name
405226744	CV3069377	single nucleotide variant	NM_020320.5(RARS2):c.1512-19T>C	not provided [RCV003734183]	likely benign	6	87516899	87516899	Human		name
405025287	CV3073279	single nucleotide variant	NM_020320.5(RARS2):c.1305+19C>T	not provided [RCV003738736]	likely benign	6	87518805	87518805	Human		name
405242991	CV3074589	single nucleotide variant	NM_020320.5(RARS2):c.1035+11A>C	not provided [RCV003737696]	likely benign	6	87521453	87521453	Human		name
405025981	CV3079229	single nucleotide variant	NM_020320.5(RARS2):c.1036-14A>G	not provided [RCV003738789]	likely benign	6	87520270	87520270	Human		name
405134331	CV3115569	single nucleotide variant	NM_020320.5(RARS2):c.1237+19T>C	not provided [RCV003816226]	likely benign	6	87519564	87519564	Human		name
405136277	CV3115732	single nucleotide variant	NM_020320.5(RARS2):c.1587-20T>C	not provided [RCV003816389]	likely benign	6	87515040	87515040	Human		name
405213239	CV3127609	deletion	NM_020320.5(RARS2):c.1512-14del	not provided [RCV003823657]	likely benign	6	87516894	87516894	Human		name
404989340	CV3131822	single nucleotide variant	NM_020320.5(RARS2):c.1238-17G>T	not provided [RCV003826950]	likely benign	6	87518908	87518908	Human		name
405050018	CV3138000	duplication	NM_020320.5(RARS2):c.1586+11dup	not provided [RCV003832038]	likely benign	6	87516794	87516795	Human		name
405068053	CV3140138	single nucleotide variant	NM_020320.5(RARS2):c.1651-12T>C	not provided [RCV003833293]	likely benign	6	87514511	87514511	Human		name
405045085	CV3141594	single nucleotide variant	NM_020320.5(RARS2):c.1415+20A>G	not provided [RCV003831695]	likely benign	6	87518610	87518610	Human		name
405225192	CV3142316	single nucleotide variant	NM_020320.5(RARS2):c.1113-19T>C	not provided [RCV003847855]	likely benign	6	87519726	87519726	Human		name
405228188	CV3143015	single nucleotide variant	NM_020320.5(RARS2):c.1586+16C>T	not provided [RCV003848358]	likely benign	6	87516790	87516790	Human		name
405230319	CV3153859	single nucleotide variant	NM_020320.5(RARS2):c.1035+16A>C	not provided [RCV003848727]	likely benign	6	87521448	87521448	Human		name
405246171	CV3162244	single nucleotide variant	NM_020320.5(RARS2):c.1512-13T>C	not provided [RCV003868763]	likely benign	6	87516893	87516893	Human		name
402470070	CV3171057	single nucleotide variant	NM_020320.5(RARS2):c.1512-15C>T	not provided [RCV003874020]	likely benign	6	87516895	87516895	Human		name
402468096	CV3174251	single nucleotide variant	NM_020320.5(RARS2):c.1650+13G>C	not provided [RCV003873534]	likely benign	6	87514944	87514944	Human		name
405250719	CV3180823	single nucleotide variant	NM_020320.5(RARS2):c.1415+16A>G	not provided [RCV003870101]	likely benign	6	87518614	87518614	Human		name
402503836	CV3181411	single nucleotide variant	NM_020320.5(RARS2):c.1306-11T>C	not provided [RCV003878245]	likely benign	6	87518750	87518750	Human		name
402489451	CV3181983	single nucleotide variant	NM_020320.5(RARS2):c.1113-21A>C	not provided [RCV003876652]	likely pathogenic	6	87519728	87519728	Human		name
12741098	CV359789	single nucleotide variant	NM_020320.5(RARS2):c.1305+20T>C	not specified [RCV000414081]	uncertain significance	6	87518804	87518804	Human		name
597921877	CV3738436	single nucleotide variant	NM_020320.5(RARS2):c.1586+19G>A	not provided [RCV005074843]	likely benign	6	87516787	87516787	Human		name
597938481	CV3775101	duplication	NM_020320.5(RARS2):c.1237+16dup	not provided [RCV005117927]	benign	6	87519566	87519567	Human		name
597887324	CV3804280	single nucleotide variant	NM_020320.5(RARS2):c.1415+14G>T	not provided [RCV005150731]	likely benign	6	87518616	87518616	Human		name
14735314	CV662028	single nucleotide variant	NM_020320.5(RARS2):c.396-243C>G	not provided [RCV000837950]	benign	6	87548889	87548889	Human		name
14741917	CV662392	single nucleotide variant	NM_020320.5(RARS2):c.1587-10C>G	Pontocerebellar hypoplasia type 6 [RCV001830854]\|not provided [RCV000841018]	likely benign	6	87515030	87515030	Human	1	name
14726206	CV662397	single nucleotide variant	NM_020320.5(RARS2):c.536-115C>T	not provided [RCV000833768]	benign	6	87542109	87542109	Human		name
14711037	CV662416	single nucleotide variant	NM_020320.5(RARS2):c.110+294C>T	not provided [RCV000827903]	likely benign	6	87569223	87569223	Human		name
14719505	CV662427	single nucleotide variant	NM_020320.5(RARS2):c.1512-43T>C	Pontocerebellar hypoplasia type 6 [RCV001543851]\|not provided [RCV000830808]	benign	6	87516923	87516923	Human	1	name
14723932	CV662428	single nucleotide variant	NM_020320.5(RARS2):c.1237+38G>A	Pontocerebellar hypoplasia type 6 [RCV001543853]\|not provided [RCV000832757]	benign	6	87519545	87519545	Human	1	name
15131568	CV775259	single nucleotide variant	NM_020320.5(RARS2):c.1035+10C>A	not provided [RCV000942246]	likely benign	6	87521454	87521454	Human		name
15113381	CV787518	single nucleotide variant	NM_020320.5(RARS2):c.1237+10G>T	not provided [RCV000978008]	likely benign	6	87519573	87519573	Human		name
127246278	CV1055641	single nucleotide variant	NM_020320.5(RARS2):c.613-3927C>T	Pontocerebellar hypoplasia type 6 [RCV003469627]\|Pontoneocerebellar hypoplasia [RCV003226466]\|not provided [RCV001377571]	pathogenic\|likely pathogenic	6	87534869	87534869	Human	3	name
150415046	CV1190565	single nucleotide variant	NM_020320.5(RARS2):c.1512-253G>A	not provided [RCV001567810]	likely benign	6	87517133	87517133	Human		name
150421965	CV1193840	single nucleotide variant	NM_020320.5(RARS2):c.1035+295T>C	not provided [RCV001570763]	likely benign	6	87521169	87521169	Human		name
150415003	CV1197593	single nucleotide variant	NM_020320.5(RARS2):c.1416-152C>A	not provided [RCV001575206]	likely benign	6	87518416	87518416	Human		name
150432080	CV1200527	duplication	NM_020320.5(RARS2):c.1415+143dup	not provided [RCV001581250]	likely benign	6	87518475	87518476	Human		name
150511344	CV1212716	single nucleotide variant	NM_020320.5(RARS2):c.613-4137C>T	not provided [RCV001597947]	benign	6	87535079	87535079	Human		name
150488900	CV1237553	single nucleotide variant	NM_020320.5(RARS2):c.1650+208C>T	not provided [RCV001654402]	benign	6	87514749	87514749	Human		name
150491799	CV1238060	single nucleotide variant	NM_020320.5(RARS2):c.1650+180A>G	not provided [RCV001654906]	benign	6	87514777	87514777	Human		name
150462104	CV1253325	single nucleotide variant	NM_020320.5(RARS2):c.1237+169T>C	not provided [RCV001669654]	benign	6	87519414	87519414	Human		name
150455380	CV1277785	single nucleotide variant	NM_020320.5(RARS2):c.1238-293T>C	not provided [RCV001708962]	benign	6	87519184	87519184	Human		name
156022177	CV2184634	microsatellite	NM_020320.5(RARS2):c.110+13AC[3]	not provided [RCV003035784]	likely benign	6	87569500	87569501	Human		name
401915855	CV2820548	single nucleotide variant	NM_020320.5(RARS2):c.1586+893T>A	not provided [RCV003428891]	likely benign	6	87515913	87515913	Human		name
402503446	CV2933378	deletion	NM_020320.5(RARS2):c.37-12_44del	not provided [RCV003574232]	likely pathogenic	6	87569583	87569602	Human		name
405263974	CV3185268	single nucleotide variant	NM_020320.5(RARS2):c.1586+873C>G	not provided [RCV003885832]	likely benign\|uncertain significance	6	87515933	87515933	Human		name
12902456	CV406943	microsatellite	NM_020320.5(RARS2):c.452-22TA[2]	not provided [RCV002526523]\|not specified [RCV000487132]	benign\|likely benign	6	87545716	87545717	Human		name
14726252	CV662390	single nucleotide variant	NM_020320.5(RARS2):c.1036-153T>A	not provided [RCV000833788]	likely benign	6	87520409	87520409	Human		name
14745861	CV662396	single nucleotide variant	NM_020320.5(RARS2):c.613-3988G>A	not provided [RCV000843825]	benign	6	87534930	87534930	Human		name
14733881	CV662429	single nucleotide variant	NM_020320.5(RARS2):c.1036-136T>C	not provided [RCV000837301]	likely benign	6	87520392	87520392	Human		name
243053670	CV2405576	deletion	NM_020320.5(RARS2):c.610_612+2del	Pontocerebellar hypoplasia type 6 [RCV003131293]	likely pathogenic	6	87541916	87541920	Human	1	name
405295261	CV3211167	duplication	NM_020320.5(RARS2):c.100_101dup	RARS2-related disorder [RCV003937153]	likely benign	6	87514311	87514312	Human		name , trait , alternate_id
150503674	CV1257843	microsatellite	NM_020320.5(RARS2):c.1238-285TA[7]	not provided [RCV001677531]	benign	6	87519164	87519165	Human		name
127271910	CV1095682	single nucleotide variant	NM_020320.5(RARS2):c.6G>C (p.Ala2=)	not provided [RCV001441988]	likely benign	6	87589952	87589952	Human		name
127290570	CV1117264	single nucleotide variant	NM_020320.5(RARS2):c.6G>T (p.Ala2=)	not provided [RCV001458474]	likely benign	6	87589952	87589952	Human		name
10410180	CV211284	deletion	NM_020320.5(RARS2):c.772-4_772-3del	Pontocerebellar hypoplasia type 6 [RCV001833151]\|not provided [RCV002517255]\|not specified [RCV000197657]	likely benign\|uncertain significance	6	87529651	87529652	Human	1	name
405177581	CV3049468	deletion	NM_020320.5(RARS2):c.395+1_395+9del	not provided [RCV003728405]	likely pathogenic	6	87555399	87555407	Human		name
405123743	CV3126403	deletion	NM_020320.5(RARS2):c.36+17_36+39del	not provided [RCV003815155]	likely benign	6	87589883	87589905	Human		name
402518305	CV3179113	deletion	NM_020320.5(RARS2):c.37-15_37-14del	not provided [RCV003879546]	likely benign	6	87569604	87569605	Human		name
12838969	CV368786	single nucleotide variant	NM_020320.5(RARS2):c.9C>T (p.Cys3=)	not provided [RCV000913522]\|not specified [RCV000427942]	likely benign	6	87589949	87589949	Human		name
597947019	CV3771594	deletion	NM_020320.5(RARS2):c.37-20_37-19del	not provided [RCV005120119]	likely benign	6	87569609	87569610	Human		name
15101195	CV782686	single nucleotide variant	NM_020320.5(RARS2):c.6G>A (p.Ala2=)	Pontocerebellar hypoplasia type 6 [RCV001275000]\|not provided [RCV000975542]	likely benign	6	87589952	87589952	Human	1	name
127292783	CV1117263	single nucleotide variant	NM_020320.5(RARS2):c.24T>C (p.Ala8=)	not provided [RCV001451824]	likely benign	6	87589934	87589934	Human		name
127308728	CV1138176	single nucleotide variant	NM_020320.5(RARS2):c.21C>A (p.Arg7=)	not provided [RCV001500853]	likely benign	6	87589937	87589937	Human		name
152120759	CV1547446	single nucleotide variant	NM_020320.5(RARS2):c.21C>G (p.Arg7=)	not provided [RCV002081518]	likely benign	6	87589937	87589937	Human		name
152106990	CV1577765	single nucleotide variant	NM_020320.5(RARS2):c.12C>G (p.Gly4=)	not provided [RCV002096309]	likely benign	6	87589946	87589946	Human		name
155996614	CV1875908	single nucleotide variant	NM_020320.5(RARS2):c.18C>G (p.Arg6=)	not provided [RCV003076375]	likely benign	6	87589940	87589940	Human		name
156352236	CV1997928	single nucleotide variant	NM_020320.5(RARS2):c.21C>T (p.Arg7=)	not provided [RCV002675675]	likely benign	6	87589937	87589937	Human		name
405131299	CV3011037	single nucleotide variant	NM_020320.5(RARS2):c.27T>A (p.Ile9=)	not provided [RCV003701666]	likely benign	6	87589931	87589931	Human		name
402468040	CV3174238	single nucleotide variant	NM_020320.5(RARS2):c.12C>T (p.Gly4=)	not provided [RCV003873521]	likely benign	6	87589946	87589946	Human		name
597859498	CV3769959	single nucleotide variant	NM_020320.5(RARS2):c.15T>C (p.Phe5=)	not provided [RCV005105810]	likely benign	6	87589943	87589943	Human		name
127269294	CV1060924	single nucleotide variant	NM_020320.5(RARS2):c.9C>A (p.Cys3Ter)	Pontocerebellar hypoplasia type 6 [RCV003463029]\|not provided [RCV001389477]	pathogenic\|likely pathogenic	6	87589949	87589949	Human	1	name
127238104	CV1060925	single nucleotide variant	NM_020320.5(RARS2):c.3G>A (p.Met1Ile)	Pontoneocerebellar hypoplasia [RCV001797837]\|not provided [RCV001382953]	pathogenic	6	87589955	87589955	Human	2	name
127262100	CV1095680	single nucleotide variant	NM_020320.5(RARS2):c.96A>G (p.Pro32=)	not provided [RCV001438867]	likely benign	6	87569531	87569531	Human		name
127267254	CV1095681	single nucleotide variant	NM_020320.5(RARS2):c.60A>G (p.Pro20=)	not provided [RCV001440508]	likely benign	6	87569567	87569567	Human		name
127320919	CV1138153	deletion	NM_020320.5(RARS2):c.1512-9_1512-7del	not provided [RCV001484384]	likely benign	6	87516887	87516889	Human		name
127319943	CV1138174	single nucleotide variant	NM_020320.5(RARS2):c.69C>T (p.Asn23=)	not provided [RCV001504251]	likely benign	6	87569558	87569558	Human		name
150521488	CV1289148	single nucleotide variant	NM_020320.5(RARS2):c.7T>C (p.Cys3Arg)	not provided [RCV001725913]	uncertain significance	6	87589951	87589951	Human		name
150554965	CV1309955	single nucleotide variant	NM_020320.5(RARS2):c.9C>G (p.Cys3Trp)	not provided [RCV003237693]	uncertain significance	6	87589949	87589949	Human		name
8660495	CV135543	single nucleotide variant	NM_020320.5(RARS2):c.63A>G (p.Pro21=)	Pontocerebellar hypoplasia type 6 [RCV000295839]\|not provided [RCV000676837]\|not specified [RCV000118125]	benign\|likely benign	6	87569564	87569564	Human	1	name
151882867	CV1364394	single nucleotide variant	NM_020320.5(RARS2):c.2T>C (p.Met1Thr)	Pontocerebellar hypoplasia type 6 [RCV005042591]\|not provided [RCV001999931]	pathogenic	6	87589956	87589956	Human	1	name
151786711	CV1393302	single nucleotide variant	NM_020320.5(RARS2):c.1A>C (p.Met1Leu)	Pontocerebellar hypoplasia type 6 [RCV005042600]\|not provided [RCV001972623]	pathogenic\|likely pathogenic	6	87589957	87589957	Human	1	name
151730999	CV1425718	single nucleotide variant	NM_020320.5(RARS2):c.3G>T (p.Met1Ile)	Pontocerebellar hypoplasia type 6 [RCV005042584]\|not provided [RCV002004774]	pathogenic	6	87589955	87589955	Human	1	name
151736341	CV1464604	single nucleotide variant	NM_020320.5(RARS2):c.2T>A (p.Met1Lys)	not provided [RCV001946619]	pathogenic	6	87589956	87589956	Human		name
152035619	CV1545781	single nucleotide variant	NM_020320.5(RARS2):c.70T>C (p.Leu24=)	not provided [RCV002164890]	likely benign	6	87569557	87569557	Human		name
155800450	CV1863599	single nucleotide variant	NM_020320.5(RARS2):c.4G>A (p.Ala2Thr)	not provided [RCV002474022]	uncertain significance	6	87589954	87589954	Human		name
10050836	CV192515	single nucleotide variant	NM_020320.5(RARS2):c.78A>C (p.Thr26=)	Pontocerebellar hypoplasia type 6 [RCV001159553]\|not provided [RCV000676836]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	87569549	87569549	Human	1	name
11060102	CV226903	single nucleotide variant	NM_020320.5(RARS2):c.1A>G (p.Met1Val)	Inborn genetic diseases [RCV000210553]\|Pontocerebellar hypoplasia type 6 [RCV000680147]\|not provided [RCV000657931]	pathogenic\|likely pathogenic	6	87589957	87589957	Human	2	name
402494452	CV2978455	single nucleotide variant	NM_020320.5(RARS2):c.78A>G (p.Thr26=)	not provided [RCV003714104]	likely benign	6	87569549	87569549	Human		name
402509120	CV2989400	single nucleotide variant	NM_020320.5(RARS2):c.45A>G (p.Arg15=)	not provided [RCV003689306]	likely benign	6	87569582	87569582	Human		name
402492034	CV3008229	deletion	NM_020320.5(RARS2):c.1416-8_1416-7del	not provided [RCV003687628]	likely benign	6	87518271	87518272	Human		name
408389343	CV3529342	deletion	NM_020320.5(RARS2):c.111-201_111-8del	not provided [RCV004774164]	uncertain significance	6	87564240	87564433	Human		name
597686029	CV3718706	single nucleotide variant	NM_020320.5(RARS2):c.3G>C (p.Met1Ile)	Pontocerebellar hypoplasia type 6 [RCV005045877]	likely pathogenic	6	87589955	87589955	Human	1	name
15116828	CV787388	microsatellite	NM_020320.5(RARS2):c.1511+6_1511+8del	not provided [RCV000978656]	likely benign	6	87518161	87518163	Human		name
26902565	CV857621	single nucleotide variant	NM_020320.5(RARS2):c.5C>T (p.Ala2Val)	Pontocerebellar hypoplasia type 6 [RCV001089497]\|not provided [RCV002051916]\|not specified [RCV005236591]	uncertain significance	6	87589953	87589953	Human	1	name
28904220	CV859566	single nucleotide variant	NM_020320.5(RARS2):c.2T>G (p.Met1Arg)	Pontocerebellar hypoplasia type 6 [RCV002482168]\|Pontoneocerebellar hypoplasia [RCV001806024]\|not provided [RCV001093190]	pathogenic\|likely pathogenic	6	87589956	87589956	Human	3	name
38597470	CV963143	single nucleotide variant	NM_020320.5(RARS2):c.1A>T (p.Met1Leu)	Pontocerebellar hypoplasia type 6 [RCV001251132]\|not provided [RCV001310929]	pathogenic\|likely pathogenic	6	87589957	87589957	Human	1	name
127317851	CV1155513	single nucleotide variant	NM_020320.5(RARS2):c.13T>C (p.Phe5Leu)	Inborn genetic diseases [RCV002568039]\|not provided [RCV001521342]	benign\|uncertain significance	6	87589945	87589945	Human	1	name
150421224	CV1180240	deletion	NM_020320.5(RARS2):c.395+98_395+105del	not provided [RCV001551914]	likely benign	6	87555303	87555310	Human		name
151885877	CV1428473	deletion	NM_020320.5(RARS2):c.68del (p.Asn23fs)	not provided [RCV002037852]	pathogenic	6	87569559	87569559	Human		name
152114721	CV1552425	single nucleotide variant	NM_020320.5(RARS2):c.264A>G (p.Val88=)	not provided [RCV002153507]	likely benign	6	87562735	87562735	Human		name
152123890	CV1587323	single nucleotide variant	NM_020320.5(RARS2):c.102C>T (p.Ser34=)	not provided [RCV002136065]	likely benign	6	87569525	87569525	Human		name
155797324	CV1863273	single nucleotide variant	NM_020320.5(RARS2):c.25A>G (p.Ile9Val)	Pontocerebellar hypoplasia type 6 [RCV002470547]\|not specified [RCV004782939]	conflicting interpretations of pathogenicity\|uncertain significance	6	87589933	87589933	Human	1	name
156357180	CV1877596	single nucleotide variant	NM_020320.5(RARS2):c.22G>T (p.Ala8Ser)	not provided [RCV003065336]	uncertain significance	6	87589936	87589936	Human		name
155996135	CV1986901	single nucleotide variant	NM_020320.5(RARS2):c.204A>G (p.Leu68=)	not provided [RCV002618240]	likely benign	6	87564139	87564139	Human		name
156163950	CV2056522	single nucleotide variant	NM_020320.5(RARS2):c.288C>T (p.Leu96=)	not provided [RCV002801735]	likely benign	6	87562711	87562711	Human		name
156355061	CV2062570	deletion	NM_020320.5(RARS2):c.1511+8_1511+10del	not provided [RCV002812070]	uncertain significance	6	87518159	87518161	Human		name
10409577	CV211293	single nucleotide variant	NM_020320.5(RARS2):c.19C>T (p.Arg7Cys)	Inborn genetic diseases [RCV004955332]\|Pontocerebellar hypoplasia type 6 [RCV001833149]\|not provided [RCV001705131]	uncertain significance	6	87589939	87589939	Human	2	name
155911258	CV2141653	single nucleotide variant	NM_020320.5(RARS2):c.16C>T (p.Arg6Cys)	Pontocerebellar hypoplasia type 6 [RCV004572492]\|not provided [RCV002968067]	likely pathogenic\|uncertain significance	6	87589942	87589942	Human	1	name
243064083	CV2413691	single nucleotide variant	NM_020320.5(RARS2):c.19C>A (p.Arg7Ser)	Pontocerebellar hypoplasia type 6 [RCV003142699]	uncertain significance	6	87589939	87589939	Human	1	name
402491817	CV2877786	single nucleotide variant	NM_020320.5(RARS2):c.180T>C (p.Asp60=)	not provided [RCV003545018]	likely benign	6	87564163	87564163	Human		name
405128738	CV2883908	single nucleotide variant	NM_020320.5(RARS2):c.217A>C (p.Arg73=)	not provided [RCV003559831]	likely benign	6	87562782	87562782	Human		name
405169736	CV2911853	deletion	NM_020320.5(RARS2):c.31del (p.Cys11fs)	not provided [RCV003563023]	pathogenic	6	87589927	87589927	Human		name
405100372	CV2937965	insertion	NM_020320.5(RARS2):c.395+11_395+12insT	not provided [RCV003665734]	likely benign	6	87555396	87555397	Human		name
405242530	CV2971036	duplication	NM_020320.5(RARS2):c.1586+5_1586+12dup	not provided [RCV003684298]	likely benign	6	87516793	87516794	Human		name
402484186	CV2998234	single nucleotide variant	NM_020320.5(RARS2):c.132T>C (p.Leu44=)	not provided [RCV003686901]	likely benign	6	87564211	87564211	Human		name
404979838	CV3009728	single nucleotide variant	NM_020320.5(RARS2):c.153A>G (p.Glu51=)	not provided [RCV003691041]	likely benign	6	87564190	87564190	Human		name
402490070	CV3011687	single nucleotide variant	NM_020320.5(RARS2):c.132T>G (p.Leu44=)	not provided [RCV003687448]	likely benign	6	87564211	87564211	Human		name
11592958	CV301229	single nucleotide variant	NM_020320.5(RARS2):c.26T>C (p.Ile9Thr)	Pontocerebellar hypoplasia type 6 [RCV000343741]\|not provided [RCV002524510]	uncertain significance	6	87589932	87589932	Human	1	name
404978848	CV3013163	single nucleotide variant	NM_020320.5(RARS2):c.177A>G (p.Pro59=)	not provided [RCV003690862]	likely benign	6	87564166	87564166	Human		name
405131766	CV3021875	single nucleotide variant	NM_020320.5(RARS2):c.105A>G (p.Gln35=)	not provided [RCV003701760]	likely benign	6	87569522	87569522	Human		name
11608020	CV309108	single nucleotide variant	NM_020320.5(RARS2):c.207A>G (p.Ala69=)	Pontocerebellar hypoplasia type 6 [RCV000350296]\|RARS2-related disorder [RCV003972507]\|not provided [RCV000943541]\|not specified [RCV000431672]	benign\|likely benign\|uncertain significance	6	87564136	87564136	Human	1	name , trait , alternate_id
405179882	CV3148832	single nucleotide variant	NM_020320.5(RARS2):c.159C>T (p.Asp53=)	not provided [RCV003858610]	likely benign	6	87564184	87564184	Human		name
405871441	CV3399260	deletion	NM_020320.5(RARS2):c.59del (p.Pro20fs)	Pontocerebellar hypoplasia type 6 [RCV004574691]	likely pathogenic	6	87569568	87569568	Human	1	name
408373115	CV3502125	single nucleotide variant	NM_020320.5(RARS2):c.16C>G (p.Arg6Gly)	not provided [RCV004725712]	uncertain significance	6	87589942	87589942	Human		name
12840331	CV369339	single nucleotide variant	NM_020320.5(RARS2):c.201A>G (p.Arg67=)	not provided [RCV000923119]	likely benign	6	87564142	87564142	Human		name
597862002	CV3766432	single nucleotide variant	NM_020320.5(RARS2):c.117A>C (p.Val39=)	not provided [RCV005106157]	likely benign	6	87564226	87564226	Human		name
598125895	CV3883338	single nucleotide variant	NM_020320.5(RARS2):c.23C>G (p.Ala8Gly)	Pontocerebellar hypoplasia type 6 [RCV005233209]	likely pathogenic	6	87589935	87589935	Human	1	name
617153257	CV4018617	single nucleotide variant	NM_020320.5(RARS2):c.14T>C (p.Phe5Ser)	not specified [RCV005418879]	uncertain significance	6	87589944	87589944	Human		name
12913509	CV421606	deletion	NM_020320.5(RARS2):c.42del (p.Arg15fs)	Mitochondrial disease [RCV005355996]\|Pontocerebellar hypoplasia type 6 [RCV002489215]\|not provided [RCV000493905]	pathogenic\|likely pathogenic	6	87569585	87569585	Human	2	name
13527330	CV501493	single nucleotide variant	NM_020320.5(RARS2):c.294A>C (p.Thr98=)	not specified [RCV000599716]	likely benign	6	87562705	87562705	Human		name
14723927	CV662406	insertion	NM_020320.5(RARS2):c.452-83_452-82insC	not provided [RCV000832755]	benign	6	87545781	87545782	Human		name
15131462	CV765908	single nucleotide variant	NM_020320.5(RARS2):c.234G>T (p.Val78=)	not provided [RCV000942228]	likely benign	6	87562765	87562765	Human		name
15104456	CV782685	single nucleotide variant	NM_020320.5(RARS2):c.15T>A (p.Phe5Leu)	Pontocerebellar hypoplasia type 6 [RCV001832231]\|not provided [RCV000976226]	likely benign\|conflicting interpretations of pathogenicity	6	87589943	87589943	Human	1	name
126732617	CV1020303	single nucleotide variant	NM_020320.5(RARS2):c.340T>C (p.Leu114=)	Pontocerebellar hypoplasia type 6 [RCV001334070]	uncertain significance	6	87555463	87555463	Human	1	name
127236396	CV1074103	single nucleotide variant	NM_020320.5(RARS2):c.903C>A (p.Leu301=)	not provided [RCV001414664]	likely benign	6	87524628	87524628	Human		name
127273186	CV1074104	single nucleotide variant	NM_020320.5(RARS2):c.885A>G (p.Gly295=)	Pontocerebellar hypoplasia type 6 [RCV001831438]\|not provided [RCV001405931]	likely benign	6	87524646	87524646	Human	1	name
127254004	CV1074106	single nucleotide variant	NM_020320.5(RARS2):c.433T>C (p.Leu145=)	not provided [RCV001418463]	likely benign	6	87548609	87548609	Human		name
127264201	CV1095671	single nucleotide variant	NM_020320.5(RARS2):c.867A>G (p.Leu289=)	not provided [RCV001439574]	likely benign	6	87529553	87529553	Human		name
127284382	CV1095673	single nucleotide variant	NM_020320.5(RARS2):c.645T>C (p.Asp215=)	not provided [RCV001449386]	likely benign	6	87530910	87530910	Human		name
127271294	CV1095674	single nucleotide variant	NM_020320.5(RARS2):c.621A>G (p.Val207=)	not provided [RCV001430894]	likely benign	6	87530934	87530934	Human		name
127237658	CV1095675	single nucleotide variant	NM_020320.5(RARS2):c.594T>A (p.Pro198=)	not provided [RCV001422738]	likely benign	6	87541936	87541936	Human		name
127284321	CV1095676	single nucleotide variant	NM_020320.5(RARS2):c.525C>A (p.Gly175=)	not provided [RCV001449309]	likely benign	6	87545626	87545626	Human		name
127239033	CV1095678	single nucleotide variant	NM_020320.5(RARS2):c.426T>C (p.Val142=)	not provided [RCV001423046]	likely benign	6	87548616	87548616	Human		name
127294142	CV1117255	single nucleotide variant	NM_020320.5(RARS2):c.972C>T (p.Thr324=)	not provided [RCV001476728]	likely benign	6	87524559	87524559	Human		name
127326322	CV1117256	single nucleotide variant	NM_020320.5(RARS2):c.864C>T (p.Leu288=)	not provided [RCV001468715]	likely benign	6	87529556	87529556	Human		name
127295785	CV1117257	single nucleotide variant	NM_020320.5(RARS2):c.739T>C (p.Leu247=)	not provided [RCV001459816]	likely benign	6	87530816	87530816	Human		name
127326749	CV1117258	single nucleotide variant	NM_020320.5(RARS2):c.717A>T (p.Ser239=)	not provided [RCV001468861]	likely benign	6	87530838	87530838	Human		name
127313585	CV1117259	single nucleotide variant	NM_020320.5(RARS2):c.657A>G (p.Val219=)	not provided [RCV001457496]	likely benign	6	87530898	87530898	Human		name
127288804	CV1117260	single nucleotide variant	NM_020320.5(RARS2):c.648T>C (p.Asp216=)	not provided [RCV001450633]	likely benign	6	87530907	87530907	Human		name
127294033	CV1117262	single nucleotide variant	NM_020320.5(RARS2):c.336T>C (p.Tyr112=)	not provided [RCV001476708]	likely benign	6	87555467	87555467	Human		name
127301639	CV1138162	single nucleotide variant	NM_020320.5(RARS2):c.966T>C (p.Tyr322=)	not provided [RCV001498897]	likely benign	6	87524565	87524565	Human		name
127319609	CV1138164	single nucleotide variant	NM_020320.5(RARS2):c.732T>C (p.Phe244=)	not provided [RCV001483936]	likely benign	6	87530823	87530823	Human		name
127308769	CV1138166	single nucleotide variant	NM_020320.5(RARS2):c.588C>G (p.Ser196=)	not provided [RCV001480688]	likely benign	6	87541942	87541942	Human		name
127310109	CV1138167	single nucleotide variant	NM_020320.5(RARS2):c.489T>C (p.His163=)	not provided [RCV001501230]	likely benign	6	87545662	87545662	Human		name
127309750	CV1138168	single nucleotide variant	NM_020320.5(RARS2):c.414A>G (p.Lys138=)	not provided [RCV001501148]	likely benign	6	87548628	87548628	Human		name
127319265	CV1138170	single nucleotide variant	NM_020320.5(RARS2):c.357C>T (p.Phe119=)	not provided [RCV001483789]	likely benign	6	87555446	87555446	Human		name
127323650	CV1138171	single nucleotide variant	NM_020320.5(RARS2):c.339A>T (p.Gly113=)	not provided [RCV001485295]	likely benign	6	87555464	87555464	Human		name
150423324	CV1183891	deletion	NM_020320.5(RARS2):c.298-262_298-259del	not provided [RCV001555165]	likely benign	6	87555764	87555767	Human		name
150414302	CV1190567	single nucleotide variant	NM_020320.5(RARS2):c.28G>A (p.Ala10Thr)	Inborn genetic diseases [RCV002569039]\|Pontocerebellar hypoplasia type 6 [RCV001832774]\|RARS2-related disorder [RCV003931200]\|not provided [RCV001567474]	uncertain significance	6	87589930	87589930	Human	2	name , trait , alternate_id
150542627	CV1302656	single nucleotide variant	NM_020320.5(RARS2):c.34C>G (p.Gln12Glu)	not provided [RCV001761346]	uncertain significance	6	87589924	87589924	Human		name
8660494	CV135542	single nucleotide variant	NM_020320.5(RARS2):c.606C>T (p.Leu202=)	Pontocerebellar hypoplasia type 6 [RCV000999763]\|not provided [RCV000676833]\|not specified [RCV000118124]	benign\|likely benign\|conflicting interpretations of pathogenicity	6	87541924	87541924	Human	1	name
8692627	CV142594	single nucleotide variant	NM_020320.5(RARS2):c.456T>C (p.Asn152=)	Pontocerebellar hypoplasia type 6 [RCV001164483]\|not provided [RCV000676834]\|not specified [RCV000127721]	benign\|likely benign\|uncertain significance	6	87545695	87545695	Human	1	name
8692632	CV142599	single nucleotide variant	NM_020320.5(RARS2):c.888G>C (p.Thr296=)	Pontocerebellar hypoplasia type 6 [RCV000363564]\|not provided [RCV000872919]\|not specified [RCV000193629]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	87524643	87524643	Human	1	name
152106027	CV1527279	single nucleotide variant	NM_020320.5(RARS2):c.555C>T (p.Phe185=)	not provided [RCV002079621]	likely benign	6	87541975	87541975	Human		name
152070551	CV1535386	single nucleotide variant	NM_020320.5(RARS2):c.561G>C (p.Leu187=)	not provided [RCV002111390]	likely benign	6	87541969	87541969	Human		name
152060006	CV1536213	single nucleotide variant	NM_020320.5(RARS2):c.495A>G (p.Val165=)	not provided [RCV002146661]	likely benign	6	87545656	87545656	Human		name
152060773	CV1540679	single nucleotide variant	NM_020320.5(RARS2):c.804A>G (p.Gly268=)	not provided [RCV002110085]	likely benign	6	87529616	87529616	Human		name
152074257	CV1557480	single nucleotide variant	NM_020320.5(RARS2):c.558G>A (p.Gln186=)	not provided [RCV002130004]	likely benign	6	87541972	87541972	Human		name
152137136	CV1580365	single nucleotide variant	NM_020320.5(RARS2):c.984A>G (p.Ala328=)	not provided [RCV002156283]	likely benign	6	87521515	87521515	Human		name
152125594	CV1580926	single nucleotide variant	NM_020320.5(RARS2):c.447C>T (p.Ile149=)	not provided [RCV002082171]	likely benign	6	87548595	87548595	Human		name
152049785	CV1585606	single nucleotide variant	NM_020320.5(RARS2):c.423T>C (p.His141=)	not provided [RCV002145537]	likely benign	6	87548619	87548619	Human		name
152039787	CV1592845	single nucleotide variant	NM_020320.5(RARS2):c.585G>A (p.Gln195=)	not provided [RCV002188082]	likely benign	6	87541945	87541945	Human		name
152099237	CV1611856	single nucleotide variant	NM_020320.5(RARS2):c.801A>G (p.Ser267=)	not provided [RCV002172879]	likely benign	6	87529619	87529619	Human		name
152134533	CV1638409	single nucleotide variant	NM_020320.5(RARS2):c.309A>G (p.Gln103=)	not provided [RCV002083324]	likely benign	6	87555494	87555494	Human		name
152126436	CV1646351	single nucleotide variant	NM_020320.5(RARS2):c.720G>C (p.Leu240=)	not provided [RCV002217470]	likely benign	6	87530835	87530835	Human		name
152067597	CV1647210	single nucleotide variant	NM_020320.5(RARS2):c.369C>A (p.Pro123=)	not provided [RCV002129181]	likely benign	6	87555434	87555434	Human		name
152074574	CV1647545	single nucleotide variant	NM_020320.5(RARS2):c.762G>C (p.Arg254=)	not provided [RCV002210424]	likely benign	6	87530793	87530793	Human		name
152064831	CV1652443	single nucleotide variant	NM_020320.5(RARS2):c.531G>A (p.Gln177=)	not provided [RCV002090750]	likely benign	6	87545620	87545620	Human		name
156394077	CV1876302	single nucleotide variant	NM_020320.5(RARS2):c.516C>T (p.Gly172=)	not provided [RCV003068376]	uncertain significance	6	87545635	87545635	Human		name
156308758	CV1912804	single nucleotide variant	NM_020320.5(RARS2):c.59C>T (p.Pro20Leu)	not provided [RCV002599533]	uncertain significance	6	87569568	87569568	Human		name
156392940	CV1965088	single nucleotide variant	NM_020320.5(RARS2):c.43A>G (p.Arg15Gly)	not provided [RCV002584047]	uncertain significance	6	87569584	87569584	Human		name
156118054	CV1982611	single nucleotide variant	NM_020320.5(RARS2):c.360T>C (p.Ser120=)	not provided [RCV002622837]	likely benign	6	87555443	87555443	Human		name
156355919	CV2062771	single nucleotide variant	NM_020320.5(RARS2):c.696G>C (p.Leu232=)	not provided [RCV002812126]	likely benign	6	87530859	87530859	Human		name
156314099	CV2063635	single nucleotide variant	NM_020320.5(RARS2):c.685C>A (p.Arg229=)	not provided [RCV002834293]	likely benign	6	87530870	87530870	Human		name
156302080	CV2069980	single nucleotide variant	NM_020320.5(RARS2):c.868C>T (p.Leu290=)	not provided [RCV002833668]	likely benign	6	87529552	87529552	Human		name
155988726	CV2070550	single nucleotide variant	NM_020320.5(RARS2):c.705G>A (p.Val235=)	not provided [RCV002842866]	likely benign	6	87530850	87530850	Human		name
10403472	CV207425	single nucleotide variant	NM_020320.5(RARS2):c.726A>G (p.Gln242=)	Pontocerebellar hypoplasia type 6 [RCV001164481]\|not provided [RCV000872362]\|not specified [RCV000192607]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	87530829	87530829	Human	1	name
155982105	CV2078532	single nucleotide variant	NM_020320.5(RARS2):c.600G>A (p.Gln200=)	not provided [RCV002863819]	likely benign	6	87541930	87541930	Human		name
156295070	CV2162617	single nucleotide variant	NM_020320.5(RARS2):c.912T>C (p.Asn304=)	not provided [RCV003045299]	likely benign	6	87524619	87524619	Human		name
156215128	CV2171194	single nucleotide variant	NM_020320.5(RARS2):c.933T>C (p.Cys311=)	not provided [RCV003042489]	likely benign	6	87524598	87524598	Human		name
12907410	CV227304	deletion	NM_020320.5(RARS2):c.189del (p.Gln64fs)	Pontocerebellar hypoplasia type 6 [RCV000490434]	uncertain significance	6	87564154	87564154	Human	1	name
401740670	CV2702583	single nucleotide variant	NM_020320.5(RARS2):c.85T>A (p.Ser29Thr)	Inborn genetic diseases [RCV003292425]	uncertain significance	6	87569542	87569542	Human	1	name
401761172	CV2706243	single nucleotide variant	NM_020320.5(RARS2):c.62C>T (p.Pro21Leu)	Inborn genetic diseases [RCV003257464]	uncertain significance	6	87569565	87569565	Human	1	name
11638386	CV273972	single nucleotide variant	NM_020320.5(RARS2):c.888G>A (p.Thr296=)	Pontocerebellar hypoplasia type 6 [RCV001162442]\|not provided [RCV000726374]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	87524643	87524643	Human	1	name
401877058	CV2767811	single nucleotide variant	NM_020320.5(RARS2):c.47T>C (p.Val16Ala)	Inborn genetic diseases [RCV003348287]	uncertain significance	6	87569580	87569580	Human	1	name
401947975	CV2833290	duplication	NM_020320.5(RARS2):c.156dup (p.Asp53fs)	Pontocerebellar hypoplasia type 6 [RCV003471806]	likely pathogenic	6	87564186	87564187	Human	1	name
405085505	CV2865937	single nucleotide variant	NM_020320.5(RARS2):c.759T>C (p.Ile253=)	not provided [RCV003549537]	likely benign	6	87530796	87530796	Human		name
402522775	CV2867428	deletion	NM_020320.5(RARS2):c.103del (p.Gln35fs)	not provided [RCV003547792]	pathogenic	6	87569524	87569524	Human		name
405164951	CV2905615	single nucleotide variant	NM_020320.5(RARS2):c.333A>G (p.Lys111=)	not provided [RCV003562593]	likely benign	6	87555470	87555470	Human		name
402497194	CV2906013	microsatellite	NM_020320.5(RARS2):c.1036-23_1036-19del	not provided [RCV003573622]	likely benign	6	87520275	87520279	Human		name
402466619	CV2914871	single nucleotide variant	NM_020320.5(RARS2):c.762G>T (p.Arg254=)	not provided [RCV003569492]	likely benign	6	87530793	87530793	Human		name
405187217	CV2917646	single nucleotide variant	NM_020320.5(RARS2):c.552C>T (p.Gly184=)	not provided [RCV003564547]	likely benign	6	87541978	87541978	Human		name
405223195	CV2919016	single nucleotide variant	NM_020320.5(RARS2):c.924C>G (p.Ser308=)	not provided [RCV003568746]	likely benign	6	87524607	87524607	Human		name
402482589	CV2921810	single nucleotide variant	NM_020320.5(RARS2):c.453A>G (p.Gly151=)	not provided [RCV003572230]	likely benign	6	87545698	87545698	Human		name
405061495	CV2926361	single nucleotide variant	NM_020320.5(RARS2):c.543G>A (p.Leu181=)	not provided [RCV003580507]	likely benign	6	87541987	87541987	Human		name
402469358	CV2930953	single nucleotide variant	NM_020320.5(RARS2):c.672G>A (p.Gln224=)	not provided [RCV003570088]	likely benign	6	87530883	87530883	Human		name
405037092	CV2932790	single nucleotide variant	NM_020320.5(RARS2):c.441T>C (p.Ser147=)	not provided [RCV003578762]	likely benign	6	87548601	87548601	Human		name
405012559	CV2933949	single nucleotide variant	NM_020320.5(RARS2):c.300A>G (p.Thr100=)	not provided [RCV003576862]	likely benign	6	87555503	87555503	Human		name
405121034	CV2957664	single nucleotide variant	NM_020320.5(RARS2):c.369C>T (p.Pro123=)	not provided [RCV003667366]	likely benign	6	87555434	87555434	Human		name
405142664	CV2958848	single nucleotide variant	NM_020320.5(RARS2):c.582G>A (p.Leu194=)	not provided [RCV003673372]	likely benign	6	87541948	87541948	Human		name
405139524	CV2970383	single nucleotide variant	NM_020320.5(RARS2):c.861A>T (p.Gly287=)	not provided [RCV003669076]	likely benign	6	87529559	87529559	Human		name
405014459	CV2994554	deletion	NM_020320.5(RARS2):c.1305+17_1305+20del	not provided [RCV003694265]	likely benign	6	87518804	87518807	Human		name
402486731	CV2999088	single nucleotide variant	NM_020320.5(RARS2):c.312A>G (p.Gln104=)	not provided [RCV003687129]	likely benign	6	87555491	87555491	Human		name
402495790	CV3005767	single nucleotide variant	NM_020320.5(RARS2):c.756C>T (p.Tyr252=)	not provided [RCV003687998]	likely benign	6	87530799	87530799	Human		name
11590960	CV301228	single nucleotide variant	NM_020320.5(RARS2):c.783A>G (p.Val261=)	Pontocerebellar hypoplasia type 6 [RCV000324358]\|not provided [RCV001428875]	likely benign\|uncertain significance	6	87529637	87529637	Human	1	name
405236916	CV3032917	single nucleotide variant	NM_020320.5(RARS2):c.621A>C (p.Val207=)	not provided [RCV003712518]	likely benign	6	87530934	87530934	Human		name
405234714	CV3073980	single nucleotide variant	NM_020320.5(RARS2):c.684A>G (p.Gln228=)	not provided [RCV003735634]	likely benign	6	87530871	87530871	Human		name
405236787	CV3076790	single nucleotide variant	NM_020320.5(RARS2):c.34C>T (p.Gln12Ter)	not provided [RCV003736037]	pathogenic	6	87589924	87589924	Human		name
405041514	CV3141149	single nucleotide variant	NM_020320.5(RARS2):c.804A>C (p.Gly268=)	not provided [RCV003831442]	likely benign	6	87529616	87529616	Human		name
405157107	CV3152563	single nucleotide variant	NM_020320.5(RARS2):c.702T>C (p.Asp234=)	not provided [RCV003840490]	likely benign	6	87530853	87530853	Human		name
405221554	CV3158141	single nucleotide variant	NM_020320.5(RARS2):c.660A>G (p.Ala220=)	not provided [RCV003863636]	likely benign	6	87530895	87530895	Human		name
405129223	CV3163321	single nucleotide variant	NM_020320.5(RARS2):c.865C>T (p.Leu289=)	not provided [RCV003854502]	likely benign	6	87529555	87529555	Human		name
405131803	CV3163747	single nucleotide variant	NM_020320.5(RARS2):c.699C>T (p.Gly233=)	not provided [RCV003854735]	likely benign	6	87530856	87530856	Human		name
405871174	CV3399270	single nucleotide variant	NM_020320.5(RARS2):c.71T>A (p.Leu24Ter)	Pontocerebellar hypoplasia type 6 [RCV004574701]	likely pathogenic	6	87569556	87569556	Human	1	name
12843092	CV368781	single nucleotide variant	NM_020320.5(RARS2):c.660A>C (p.Ala220=)	Pontocerebellar hypoplasia type 6 [RCV001164482]\|not provided [RCV000878762]\|not specified [RCV000435603]	benign\|likely benign	6	87530895	87530895	Human	1	name
12846161	CV369331	single nucleotide variant	NM_020320.5(RARS2):c.588C>T (p.Ser196=)	not provided [RCV002063455]\|not specified [RCV000441131]	likely benign	6	87541942	87541942	Human		name
12837525	CV369336	single nucleotide variant	NM_020320.5(RARS2):c.318T>A (p.Ile106=)	not provided [RCV000872100]\|not specified [RCV000425318]	likely benign	6	87555485	87555485	Human		name
597922036	CV3808120	deletion	NM_020320.5(RARS2):c.1416-18_1416-13del	not provided [RCV005155828]	likely benign	6	87518277	87518282	Human		name
597857931	CV3822335	single nucleotide variant	NM_020320.5(RARS2):c.384G>A (p.Val128=)	not provided [RCV005174633]	likely benign	6	87555419	87555419	Human		name
597872127	CV3849441	single nucleotide variant	NM_020320.5(RARS2):c.687A>G (p.Arg229=)	not provided [RCV005197622]	likely benign	6	87530868	87530868	Human		name
8568670	CV39869	single nucleotide variant	NM_020320.5(RARS2):c.35A>G (p.Gln12Arg)	Inborn genetic diseases [RCV000623258]\|Pontocerebellar hypoplasia type 6 [RCV000023899]\|not provided [RCV000816795]	pathogenic\|likely pathogenic\|drug response\|uncertain significance\|no classifications from unflagged records	6	87589923	87589923	Human	2	name
13540356	CV501485	single nucleotide variant	NM_020320.5(RARS2):c.688T>C (p.Leu230=)	not provided [RCV000917466]\|not specified [RCV000614584]	likely benign	6	87530867	87530867	Human		name
13525432	CV502115	deletion	NM_020320.5(RARS2):c.1651-14_1651-10del	not provided [RCV001425773]\|not specified [RCV000603160]	likely benign	6	87514509	87514513	Human		name
15190641	CV699684	single nucleotide variant	NM_020320.5(RARS2):c.582G>T (p.Leu194=)	not provided [RCV000954537]	likely benign	6	87541948	87541948	Human		name
15175564	CV735809	single nucleotide variant	NM_020320.5(RARS2):c.735G>A (p.Arg245=)	Pontocerebellar hypoplasia type 6 [RCV001273126]\|not provided [RCV000906245]	likely benign\|uncertain significance	6	87530820	87530820	Human	1	name
15173831	CV765906	single nucleotide variant	NM_020320.5(RARS2):c.999A>G (p.Arg333=)	not provided [RCV000928368]	likely benign	6	87521500	87521500	Human		name
15121380	CV765907	single nucleotide variant	NM_020320.5(RARS2):c.444C>T (p.Thr148=)	Pontocerebellar hypoplasia type 6 [RCV001273018]\|not provided [RCV000940513]	likely benign	6	87548598	87548598	Human	1	name
15134822	CV782684	single nucleotide variant	NM_020320.5(RARS2):c.580C>T (p.Leu194=)	not provided [RCV000981816]	likely benign	6	87541950	87541950	Human		name
38598395	CV965415	single nucleotide variant	NM_020320.5(RARS2):c.29C>T (p.Ala10Val)	Pontocerebellar hypoplasia type 6 [RCV001254879]	likely pathogenic\|uncertain significance	6	87589929	87589929	Human	1	name
127271400	CV1060916	duplication	NM_020320.5(RARS2):c.928dup (p.Ile310fs)	Pontocerebellar hypoplasia type 6 [RCV002499819]\|not provided [RCV001390148]	pathogenic\|likely pathogenic	6	87524602	87524603	Human	1	name
127269155	CV1060918	deletion	NM_020320.5(RARS2):c.437del (p.Arg146fs)	not provided [RCV001382327]	pathogenic	6	87548605	87548605	Human		name
127261184	CV1060923	single nucleotide variant	NM_020320.5(RARS2):c.184C>T (p.Gln62Ter)	not provided [RCV001380481]	pathogenic	6	87564159	87564159	Human		name
127247766	CV1074094	single nucleotide variant	NM_020320.5(RARS2):c.1677C>T (p.Val559=)	not provided [RCV001394317]	likely benign	6	87514473	87514473	Human		name
127281560	CV1074095	single nucleotide variant	NM_020320.5(RARS2):c.1629T>C (p.Asp543=)	not provided [RCV001410571]	likely benign	6	87514978	87514978	Human		name
127272653	CV1074096	single nucleotide variant	NM_020320.5(RARS2):c.1617A>G (p.Leu539=)	not provided [RCV001405771]	likely benign	6	87514990	87514990	Human		name
127249500	CV1074098	single nucleotide variant	NM_020320.5(RARS2):c.1326A>G (p.Leu442=)	not provided [RCV001417334]	likely benign	6	87518719	87518719	Human		name
127235939	CV1074099	single nucleotide variant	NM_020320.5(RARS2):c.1284G>T (p.Gly428=)	not provided [RCV001414574]	likely benign	6	87518845	87518845	Human		name
127235806	CV1074100	single nucleotide variant	NM_020320.5(RARS2):c.1167T>C (p.Asp389=)	not provided [RCV001391956]	likely benign	6	87519653	87519653	Human		name
127254908	CV1074101	single nucleotide variant	NM_020320.5(RARS2):c.1095A>C (p.Gly365=)	not provided [RCV001400888]	likely benign	6	87520197	87520197	Human		name
127240267	CV1095666	single nucleotide variant	NM_020320.5(RARS2):c.1602G>A (p.Val534=)	not provided [RCV001434195]	likely benign	6	87515005	87515005	Human		name
127281688	CV1095668	single nucleotide variant	NM_020320.5(RARS2):c.1578A>T (p.Leu526=)	not provided [RCV001447302]	likely benign	6	87516814	87516814	Human		name
127266353	CV1095669	single nucleotide variant	NM_020320.5(RARS2):c.1521G>A (p.Glu507=)	not provided [RCV001440221]	likely benign	6	87516871	87516871	Human		name
127277565	CV1095670	single nucleotide variant	NM_020320.5(RARS2):c.1368C>T (p.Arg456=)	not provided [RCV001444498]	likely benign	6	87518677	87518677	Human		name
127299809	CV1117244	single nucleotide variant	NM_020320.5(RARS2):c.1581T>G (p.Thr527=)	not provided [RCV001453672]	likely benign	6	87516811	87516811	Human		name
127324806	CV1117245	single nucleotide variant	NM_020320.5(RARS2):c.1515C>T (p.Phe505=)	not provided [RCV001468285]	likely benign	6	87516877	87516877	Human		name
127314487	CV1117247	single nucleotide variant	NM_020320.5(RARS2):c.1404C>G (p.Ala468=)	not provided [RCV001464987]	likely benign	6	87518641	87518641	Human		name
127293467	CV1117248	single nucleotide variant	NM_020320.5(RARS2):c.1371G>A (p.Gly457=)	not provided [RCV001476600]	likely benign	6	87518674	87518674	Human		name
127318149	CV1117249	single nucleotide variant	NM_020320.5(RARS2):c.1368C>A (p.Arg456=)	not provided [RCV001466090]	likely benign	6	87518677	87518677	Human		name
127336768	CV1117250	single nucleotide variant	NM_020320.5(RARS2):c.1276A>C (p.Arg426=)	not provided [RCV001475210]	likely benign	6	87518853	87518853	Human		name
127298695	CV1117252	single nucleotide variant	NM_020320.5(RARS2):c.1155T>G (p.Thr385=)	not provided [RCV001460617]	likely benign	6	87519665	87519665	Human		name
127333048	CV1117254	single nucleotide variant	NM_020320.5(RARS2):c.1044A>G (p.Lys348=)	not provided [RCV001472643]	likely benign	6	87520248	87520248	Human		name
127310193	CV1138152	single nucleotide variant	NM_020320.5(RARS2):c.1596A>G (p.Ala532=)	not provided [RCV001501249]	likely benign	6	87515011	87515011	Human		name
127316421	CV1138154	single nucleotide variant	NM_020320.5(RARS2):c.1503T>C (p.His501=)	not provided [RCV001503015]	likely benign	6	87518177	87518177	Human		name
127318896	CV1138155	single nucleotide variant	NM_020320.5(RARS2):c.1446G>C (p.Leu482=)	not provided [RCV001483650]	likely benign	6	87518234	87518234	Human		name
127330320	CV1138156	single nucleotide variant	NM_020320.5(RARS2):c.1401C>T (p.His467=)	not provided [RCV001488052]	likely benign	6	87518644	87518644	Human		name
127320734	CV1138157	single nucleotide variant	NM_020320.5(RARS2):c.1377A>G (p.Thr459=)	not provided [RCV001484335]	likely benign	6	87518668	87518668	Human		name
127326468	CV1138158	single nucleotide variant	NM_020320.5(RARS2):c.1296C>T (p.Leu432=)	not provided [RCV001506317]	likely benign	6	87518833	87518833	Human		name
127287466	CV1138159	single nucleotide variant	NM_020320.5(RARS2):c.1281C>T (p.Val427=)	not provided [RCV001494928]	likely benign	6	87518848	87518848	Human		name
127330385	CV1138160	single nucleotide variant	NM_020320.5(RARS2):c.1143G>A (p.Gln381=)	not provided [RCV001488127]	likely benign	6	87519677	87519677	Human		name
150437074	CV1200921	single nucleotide variant	NM_020320.5(RARS2):c.1077A>G (p.Gln359=)	not provided [RCV001583001]	likely benign	6	87520215	87520215	Human		name
8660492	CV135540	single nucleotide variant	NM_020320.5(RARS2):c.155A>T (p.Lys52Ile)	Pontocerebellar hypoplasia type 6 [RCV000388565]\|not provided [RCV000676835]\|not specified [RCV000118122]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	87564188	87564188	Human	1	name
8660493	CV135541	single nucleotide variant	NM_020320.5(RARS2):c.1704A>G (p.Lys568=)	Congenital disorder of glycosylation [RCV000272477]\|Pontocerebellar hypoplasia type 6 [RCV001159447]\|Pontoneocerebellar hypoplasia [RCV000334377]\|not provided [RCV000676829]\|not specified [RCV000118123]	benign\|likely benign	6	87514446	87514446	Human	4	name
151762361	CV1393590	duplication	NM_020320.5(RARS2):c.940dup (p.Met314fs)	not provided [RCV001949299]	pathogenic	6	87524590	87524591	Human		name
151721391	CV1421021	single nucleotide variant	NM_020320.5(RARS2):c.136G>T (p.Val46Leu)	not provided [RCV002040133]	uncertain significance	6	87564207	87564207	Human		name
8692634	CV142601	single nucleotide variant	NM_020320.5(RARS2):c.1410C>A (p.Leu470=)	Pontocerebellar hypoplasia type 6 [RCV001160816]\|RARS2-related disorder [RCV003925263]\|not provided [RCV000872079]\|not specified [RCV000127731]	benign\|likely benign	6	87518635	87518635	Human	1	name , trait , alternate_id
151873361	CV1470167	deletion	NM_020320.5(RARS2):c.996del (p.Arg333fs)	not provided [RCV001885556]	pathogenic	6	87521503	87521503	Human		name
152159076	CV1521908	single nucleotide variant	NM_020320.5(RARS2):c.1470A>G (p.Leu490=)	not provided [RCV002180602]	likely benign	6	87518210	87518210	Human		name
152051716	CV1538794	single nucleotide variant	NM_020320.5(RARS2):c.1674T>C (p.Ala558=)	not provided [RCV002189492]	likely benign	6	87514476	87514476	Human		name
152158161	CV1541934	single nucleotide variant	NM_020320.5(RARS2):c.1458C>T (p.Asn486=)	not provided [RCV002103272]	likely benign	6	87518222	87518222	Human		name
152105271	CV1572449	single nucleotide variant	NM_020320.5(RARS2):c.1615C>T (p.Leu539=)	not provided [RCV002152317]	likely benign	6	87514992	87514992	Human		name
152025680	CV1586478	single nucleotide variant	NM_020320.5(RARS2):c.1284G>A (p.Gly428=)	not provided [RCV002184901]	likely benign	6	87518845	87518845	Human		name
152164916	CV1595678	single nucleotide variant	NM_020320.5(RARS2):c.1308C>T (p.Asp436=)	not provided [RCV002204133]	likely benign	6	87518737	87518737	Human		name
152078768	CV1602186	single nucleotide variant	NM_020320.5(RARS2):c.1164A>G (p.Gly388=)	not provided [RCV002149031]	likely benign	6	87519656	87519656	Human		name
152048541	CV1623007	single nucleotide variant	NM_020320.5(RARS2):c.1203A>G (p.Gln401=)	not provided [RCV002126941]	likely benign	6	87519617	87519617	Human		name
152032621	CV1629468	single nucleotide variant	NM_020320.5(RARS2):c.1464T>C (p.Ala488=)	not provided [RCV002106402]	likely benign	6	87518216	87518216	Human		name
152156863	CV1630444	single nucleotide variant	NM_020320.5(RARS2):c.1215A>C (p.Leu405=)	not provided [RCV002122539]	likely benign	6	87519605	87519605	Human		name
152126664	CV1641957	single nucleotide variant	NM_020320.5(RARS2):c.1387C>T (p.Leu463=)	not provided [RCV002176262]	likely benign	6	87518658	87518658	Human		name
152047246	CV1656734	single nucleotide variant	NM_020320.5(RARS2):c.1260A>T (p.Pro420=)	not provided [RCV002126791]	likely benign	6	87518869	87518869	Human		name
152164051	CV1662569	single nucleotide variant	NM_020320.5(RARS2):c.1213C>T (p.Leu405=)	not provided [RCV002141441]	likely benign	6	87519607	87519607	Human		name
155645851	CV1709207	single nucleotide variant	NM_020320.5(RARS2):c.212A>G (p.Lys71Arg)	not provided [RCV002292083]	uncertain significance	6	87564131	87564131	Human		name
156025053	CV1896112	duplication	NM_020320.5(RARS2):c.839dup (p.Leu280fs)	Pontocerebellar hypoplasia type 6 [RCV005045286]\|not provided [RCV003100387]	pathogenic\|likely pathogenic	6	87529580	87529581	Human	1	name
156416864	CV1970062	single nucleotide variant	NM_020320.5(RARS2):c.162T>A (p.Asn54Lys)	not provided [RCV002589915]	uncertain significance	6	87564181	87564181	Human		name
156038607	CV2052652	single nucleotide variant	NM_020320.5(RARS2):c.1554C>T (p.Pro518=)	not provided [RCV002796350]	likely benign	6	87516838	87516838	Human		name
156257289	CV2056891	single nucleotide variant	NM_020320.5(RARS2):c.1722T>A (p.Pro574=)	not provided [RCV002791895]	likely benign	6	87514428	87514428	Human		name
155956485	CV2087012	deletion	NM_020320.5(RARS2):c.638del (p.Ala213fs)	not provided [RCV002862632]	pathogenic	6	87530917	87530917	Human		name
10411075	CV211279	duplication	NM_020320.5(RARS2):c.898dup (p.Asp300fs)	Pontocerebellar hypoplasia type 6 [RCV004567404]\|not provided [RCV000199506]	pathogenic\|likely pathogenic	6	87524632	87524633	Human	1	name
10410307	CV211290	single nucleotide variant	NM_020320.5(RARS2):c.196A>G (p.Lys66Glu)	not specified [RCV000197915]	likely benign	6	87564147	87564147	Human		name
10411103	CV211291	single nucleotide variant	NM_020320.5(RARS2):c.155A>G (p.Lys52Arg)	not specified [RCV000199562]	likely benign	6	87564188	87564188	Human		name
10411523	CV211292	single nucleotide variant	NM_020320.5(RARS2):c.152A>G (p.Glu51Gly)	Pontocerebellar hypoplasia type 6 [RCV001273019]\|not provided [RCV000200441]	likely pathogenic\|uncertain significance	6	87564191	87564191	Human	1	name
155903147	CV2127083	single nucleotide variant	NM_020320.5(RARS2):c.1281C>G (p.Val427=)	not provided [RCV002967543]	likely benign	6	87518848	87518848	Human		name
156212228	CV2127802	single nucleotide variant	NM_020320.5(RARS2):c.259A>T (p.Thr87Ser)	not provided [RCV002957793]	uncertain significance	6	87562740	87562740	Human		name
156071407	CV2172639	single nucleotide variant	NM_020320.5(RARS2):c.1713A>C (p.Gly571=)	not provided [RCV003053727]	likely benign	6	87514437	87514437	Human		name
156122212	CV2175002	single nucleotide variant	NM_020320.5(RARS2):c.1248A>G (p.Glu416=)	not provided [RCV003055512]	likely benign	6	87518881	87518881	Human		name
329349813	CV2421597	single nucleotide variant	NM_020320.5(RARS2):c.122A>G (p.Asp41Gly)	Pontocerebellar hypoplasia type 6 [RCV003159087]	uncertain significance	6	87564221	87564221	Human	1	name
401943913	CV2833267	deletion	NM_020320.5(RARS2):c.998del (p.Arg333fs)	Pontocerebellar hypoplasia type 6 [RCV003463463]	likely pathogenic	6	87521501	87521501	Human	1	name
401943931	CV2833281	deletion	NM_020320.5(RARS2):c.795del (p.Glu265fs)	Pontocerebellar hypoplasia type 6 [RCV003463468]	pathogenic	6	87529625	87529625	Human	1	name
401943943	CV2833286	deletion	NM_020320.5(RARS2):c.617del (p.Tyr206fs)	Pontocerebellar hypoplasia type 6 [RCV003463472]	likely pathogenic	6	87530938	87530938	Human	1	name
401947984	CV2833301	deletion	NM_020320.5(RARS2):c.333del (p.Lys111fs)	Pontocerebellar hypoplasia type 6 [RCV003471811]	likely pathogenic	6	87555470	87555470	Human	1	name
401944770	CV2840591	single nucleotide variant	NM_020320.5(RARS2):c.185A>T (p.Gln62Leu)	not provided [RCV003457477]	uncertain significance	6	87564158	87564158	Human		name
402477445	CV2853763	deletion	NM_020320.5(RARS2):c.349del (p.Glu117fs)	not provided [RCV003543611]	pathogenic	6	87555454	87555454	Human		name
405176449	CV2864568	single nucleotide variant	NM_020320.5(RARS2):c.1272A>T (p.Ala424=)	not provided [RCV003542716]	likely benign	6	87518857	87518857	Human		name
405020884	CV2866418	deletion	NM_020320.5(RARS2):c.914del (p.Gly305fs)	not provided [RCV003577567]	pathogenic	6	87524617	87524617	Human		name
405175231	CV2915546	duplication	NM_020320.5(RARS2):c.958dup (p.Ser320fs)	not provided [RCV003563478]	pathogenic	6	87524572	87524573	Human		name
402496435	CV2942842	single nucleotide variant	NM_020320.5(RARS2):c.253C>T (p.Gln85Ter)	not provided [RCV003661177]	pathogenic\|likely pathogenic	6	87562746	87562746	Human		name
402501636	CV2943765	single nucleotide variant	NM_020320.5(RARS2):c.170C>G (p.Ser57Ter)	Pontocerebellar hypoplasia type 6 [RCV004574151]\|not provided [RCV003661672]	pathogenic\|likely pathogenic	6	87564173	87564173	Human	1	name
402489986	CV2948936	single nucleotide variant	NM_020320.5(RARS2):c.190C>T (p.Gln64Ter)	not provided [RCV003660455]	pathogenic	6	87564153	87564153	Human		name
405156723	CV2960910	single nucleotide variant	NM_020320.5(RARS2):c.1155T>C (p.Thr385=)	not provided [RCV003670437]	likely benign	6	87519665	87519665	Human		name
405196126	CV2965928	single nucleotide variant	NM_020320.5(RARS2):c.1299T>C (p.Ile433=)	not provided [RCV003677575]	likely benign	6	87518830	87518830	Human		name
405242862	CV2967376	single nucleotide variant	NM_020320.5(RARS2):c.1413C>T (p.His471=)	not provided [RCV003684392]	likely benign	6	87518632	87518632	Human		name
405198543	CV2972986	single nucleotide variant	NM_020320.5(RARS2):c.1260A>G (p.Pro420=)	not provided [RCV003677874]	likely benign	6	87518869	87518869	Human		name
405213662	CV2984993	single nucleotide variant	NM_020320.5(RARS2):c.1410C>T (p.Leu470=)	not provided [RCV003709011]	likely benign	6	87518635	87518635	Human		name
404996852	CV2992604	single nucleotide variant	NM_020320.5(RARS2):c.1554C>G (p.Pro518=)	not provided [RCV003692782]	likely benign	6	87516838	87516838	Human		name
402520569	CV3000222	duplication	NM_020320.5(RARS2):c.524dup (p.Met176fs)	not provided [RCV003716330]	pathogenic	6	87545626	87545627	Human		name
404980707	CV3006198	deletion	NM_020320.5(RARS2):c.459del (p.Phe153fs)	not provided [RCV003691189]	pathogenic	6	87545692	87545692	Human		name
405078223	CV3008131	single nucleotide variant	NM_020320.5(RARS2):c.1539T>G (p.Ser513=)	not provided [RCV003716852]	likely benign	6	87516853	87516853	Human		name
405205013	CV3033627	single nucleotide variant	NM_020320.5(RARS2):c.1569T>C (p.Ser523=)	not provided [RCV003707891]	likely benign	6	87516823	87516823	Human		name
402486196	CV3033928	single nucleotide variant	NM_020320.5(RARS2):c.1686C>T (p.Val562=)	not provided [RCV003713318]	likely benign	6	87514464	87514464	Human		name
402482098	CV3041719	single nucleotide variant	NM_020320.5(RARS2):c.1374C>T (p.Asp458=)	not provided [RCV003712958]	likely benign	6	87518671	87518671	Human		name
11602700	CV309012	single nucleotide variant	NM_020320.5(RARS2):c.245G>A (p.Ser82Asn)	Pontocerebellar hypoplasia type 6 [RCV000292981]\|not provided [RCV000941300]	likely benign\|uncertain significance	6	87562754	87562754	Human	1	name
405048971	CV3150813	single nucleotide variant	NM_020320.5(RARS2):c.149T>C (p.Leu50Ser)	not provided [RCV003849417]	uncertain significance	6	87564194	87564194	Human		name
405185166	CV3160111	single nucleotide variant	NM_020320.5(RARS2):c.127C>T (p.Gln43Ter)	not provided [RCV003859166]	pathogenic	6	87564216	87564216	Human		name
402469225	CV3174703	single nucleotide variant	NM_020320.5(RARS2):c.1128C>G (p.Pro376=)	not provided [RCV003873813]	likely benign	6	87519692	87519692	Human		name
405867786	CV3396605	single nucleotide variant	NM_020320.5(RARS2):c.124T>A (p.Phe42Ile)	Pontocerebellar hypoplasia type 6 [RCV004560476]\|not provided [RCV004767570]	uncertain significance	6	87564219	87564219	Human	1	name
597707993	CV3592932	single nucleotide variant	NM_020320.5(RARS2):c.1035G>A (p.Val345=)	Inborn genetic diseases [RCV004957612]	uncertain significance	6	87521464	87521464	Human	1	name
12841093	CV368778	single nucleotide variant	NM_020320.5(RARS2):c.1263A>G (p.Gln421=)	not provided [RCV001461037]\|not specified [RCV000431971]	likely benign	6	87518866	87518866	Human		name
597962422	CV3753700	single nucleotide variant	NM_020320.5(RARS2):c.1575T>C (p.Leu525=)	not provided [RCV005082004]	likely benign	6	87516817	87516817	Human		name
597893062	CV3763419	single nucleotide variant	NM_020320.5(RARS2):c.295A>G (p.Lys99Glu)	not provided [RCV005110999]	uncertain significance	6	87562704	87562704	Human		name
597949984	CV3818886	single nucleotide variant	NM_020320.5(RARS2):c.1473A>G (p.Gln491=)	not provided [RCV005160956]	uncertain significance	6	87518207	87518207	Human		name
597863861	CV3823065	single nucleotide variant	NM_020320.5(RARS2):c.1071A>G (p.Val357=)	not provided [RCV005175415]	likely benign	6	87520221	87520221	Human		name
617152619	CV4020837	single nucleotide variant	NM_020320.5(RARS2):c.265A>C (p.Asn89His)	not provided [RCV005428590]	uncertain significance	6	87562734	87562734	Human		name
13215227	CV428634	deletion	NM_020320.5(RARS2):c.370del (p.Gln124fs)	Pontocerebellar hypoplasia type 6 [RCV000502246]	likely pathogenic	6	87555433	87555433	Human	1	name
13531691	CV501482	single nucleotide variant	NM_020320.5(RARS2):c.1287C>T (p.Leu429=)	not provided [RCV001431017]\|not specified [RCV000606558]	likely benign	6	87518842	87518842	Human		name
13794657	CV552109	single nucleotide variant	NM_020320.5(RARS2):c.214C>G (p.Leu72Val)	Pontocerebellar hypoplasia type 6 [RCV000680081]	uncertain significance	6	87562785	87562785	Human	1	name
15116109	CV692076	single nucleotide variant	NM_020320.5(RARS2):c.1518C>T (p.Asp506=)	Pontocerebellar hypoplasia type 6 [RCV001273123]\|not provided [RCV000873266]	likely benign\|uncertain significance	6	87516874	87516874	Human	1	name
15156878	CV750271	single nucleotide variant	NM_020320.5(RARS2):c.1692C>G (p.Ala564=)	Pontocerebellar hypoplasia type 6 [RCV001273121]\|not provided [RCV000924752]	likely benign\|uncertain significance	6	87514458	87514458	Human	1	name
15134195	CV765902	single nucleotide variant	NM_020320.5(RARS2):c.1563C>T (p.Ile521=)	not provided [RCV000942703]	likely benign	6	87516829	87516829	Human		name
15184830	CV765903	single nucleotide variant	NM_020320.5(RARS2):c.1170C>T (p.Val390=)	Pontocerebellar hypoplasia type 6 [RCV001273017]\|not provided [RCV000930898]	likely benign	6	87519650	87519650	Human	1	name
15100924	CV765904	single nucleotide variant	NM_020320.5(RARS2):c.1152G>A (p.Lys384=)	not provided [RCV000936704]	likely benign	6	87519668	87519668	Human		name
15128019	CV765905	single nucleotide variant	NM_020320.5(RARS2):c.1122C>T (p.His374=)	not provided [RCV000941644]	likely benign	6	87519698	87519698	Human		name
15145780	CV782680	single nucleotide variant	NM_020320.5(RARS2):c.1736A>G (p.Ter579=)	not provided [RCV000983726]	likely benign	6	87514414	87514414	Human		name
15127165	CV782681	single nucleotide variant	NM_020320.5(RARS2):c.1635T>A (p.Pro545=)	not provided [RCV000980500]	likely benign	6	87514972	87514972	Human		name
15110267	CV782682	single nucleotide variant	NM_020320.5(RARS2):c.1545C>T (p.Asp515=)	not provided [RCV000977403]	likely benign	6	87516847	87516847	Human		name
15114367	CV782683	single nucleotide variant	NM_020320.5(RARS2):c.1095A>T (p.Gly365=)	not provided [RCV000978205]	likely benign	6	87520197	87520197	Human		name
40904945	CV978369	single nucleotide variant	NM_020320.5(RARS2):c.262G>A (p.Val88Ile)	Pontocerebellar hypoplasia type 6 [RCV001278031]	uncertain significance	6	87562737	87562737	Human	1	name
40904946	CV978370	single nucleotide variant	NM_020320.5(RARS2):c.110A>G (p.Glu37Gly)	Pontocerebellar hypoplasia type 6 [RCV001278032]	uncertain significance	6	87569517	87569517	Human	1	name
150447779	CV1015202	single nucleotide variant	NM_020320.5(RARS2):c.517G>A (p.Asp173Asn)	Pontocerebellar hypoplasia type 6 [RCV001647235]\|not provided [RCV002546250]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	6	87545634	87545634	Human	1	name
126727154	CV1016802	single nucleotide variant	NM_020320.5(RARS2):c.488A>G (p.His163Arg)	Pontocerebellar hypoplasia type 6 [RCV001332320]\|not specified [RCV001586132]	uncertain significance	6	87545663	87545663	Human	1	name
126732613	CV1020301	deletion	NM_020320.5(RARS2):c.1554del (p.Arg519fs)	Pontocerebellar hypoplasia type 6 [RCV002486337]\|not provided [RCV001382857]	pathogenic\|likely pathogenic	6	87516838	87516838	Human	1	name
127259410	CV1060914	duplication	NM_020320.5(RARS2):c.1376dup (p.Gly460fs)	not provided [RCV001380143]	pathogenic	6	87518668	87518669	Human		name
127257603	CV1060917	single nucleotide variant	NM_020320.5(RARS2):c.670C>T (p.Gln224Ter)	not provided [RCV001386778]	pathogenic	6	87530885	87530885	Human		name
127321737	CV1138161	single nucleotide variant	NM_020320.5(RARS2):c.968C>T (p.Ala323Val)	not provided [RCV001504841]	likely benign	6	87524563	87524563	Human		name
150496969	CV1219328	deletion	NM_020320.5(RARS2):c.1238-250_1238-249del	not provided [RCV001619997]	benign	6	87519140	87519141	Human		name
150505682	CV1255535	deletion	NM_020320.5(RARS2):c.1238-262_1238-258del	not provided [RCV001677982]	benign	6	87519149	87519153	Human		name
150545106	CV1293005	single nucleotide variant	NM_020320.5(RARS2):c.775C>G (p.Leu259Val)	not provided [RCV001762791]	uncertain significance	6	87529645	87529645	Human		name
150549435	CV1295177	single nucleotide variant	NM_020320.5(RARS2):c.323A>G (p.Asp108Gly)	not provided [RCV001765138]	uncertain significance	6	87555480	87555480	Human		name
150550780	CV1305152	single nucleotide variant	NM_020320.5(RARS2):c.887C>T (p.Thr296Met)	not provided [RCV001765932]	uncertain significance	6	87524644	87524644	Human		name
150544809	CV1315257	deletion	NM_020320.5(RARS2):c.1533del (p.Lys511fs)	Pontocerebellar hypoplasia type 6 [RCV001783671]	likely pathogenic	6	87516859	87516859	Human	1	name
8660496	CV135544	single nucleotide variant	NM_020320.5(RARS2):c.703G>A (p.Val235Met)	Pontocerebellar hypoplasia type 6 [RCV000999762]\|RARS2-related disorder [RCV003964988]\|not provided [RCV000676832]\|not specified [RCV000118126]	benign\|likely benign	6	87530852	87530852	Human	1	name , trait , alternate_id
8660497	CV135545	single nucleotide variant	NM_020320.5(RARS2):c.872A>G (p.Lys291Arg)	Pontocerebellar hypoplasia type 6 [RCV000328822]\|not provided [RCV000676831]\|not specified [RCV000118127]	benign\|likely benign	6	87529548	87529548	Human	1	name
8660498	CV135546	single nucleotide variant	NM_020320.5(RARS2):c.991A>G (p.Ile331Val)	Pontocerebellar hypoplasia type 6 [RCV000399916]\|not provided [RCV000676830]\|not specified [RCV000118128]	benign\|likely benign	6	87521508	87521508	Human	1	name
151824409	CV1373270	single nucleotide variant	NM_020320.5(RARS2):c.716C>G (p.Ser239Ter)	Pontocerebellar hypoplasia type 6 [RCV003464181]\|not provided [RCV001934457]	pathogenic\|likely pathogenic	6	87530839	87530839	Human	1	name
151842368	CV1418234	single nucleotide variant	NM_020320.5(RARS2):c.654T>A (p.Ser218Arg)	not provided [RCV001903002]	uncertain significance	6	87530901	87530901	Human		name
151826947	CV1426154	single nucleotide variant	NM_020320.5(RARS2):c.622C>T (p.Gln208Ter)	Pontocerebellar hypoplasia type 6 [RCV003471122]\|not provided [RCV001993325]	pathogenic	6	87530933	87530933	Human	1	name
151885938	CV1445142	single nucleotide variant	NM_020320.5(RARS2):c.722G>A (p.Trp241Ter)	not provided [RCV001942060]	pathogenic	6	87530833	87530833	Human		name
151865485	CV1477519	deletion	NM_020320.5(RARS2):c.1570del (p.Tyr524fs)	not provided [RCV001939108]	pathogenic	6	87516822	87516822	Human		name
151769885	CV1481703	single nucleotide variant	NM_020320.5(RARS2):c.997C>G (p.Arg333Gly)	not provided [RCV002008743]	likely pathogenic	6	87521502	87521502	Human		name
151734667	CV1497890	single nucleotide variant	NM_020320.5(RARS2):c.997C>T (p.Arg333Ter)	Pontocerebellar hypoplasia type 6 [RCV003464260]\|not provided [RCV001984567]	pathogenic\|likely pathogenic	6	87521502	87521502	Human	1	name
152983308	CV1678131	single nucleotide variant	NM_020320.5(RARS2):c.422A>G (p.His141Arg)	Pontocerebellar hypoplasia type 6 [RCV002250287]	pathogenic	6	87548620	87548620	Human	1	name
155645786	CV1709141	single nucleotide variant	NM_020320.5(RARS2):c.613G>T (p.Val205Phe)	not provided [RCV002292017]	uncertain significance	6	87530942	87530942	Human		name
155699221	CV1777400	single nucleotide variant	NM_020320.5(RARS2):c.769A>C (p.Lys257Gln)	not provided [RCV002295516]	uncertain significance	6	87530786	87530786	Human		name
155747097	CV1778319	single nucleotide variant	NM_020320.5(RARS2):c.718C>G (p.Leu240Val)	not provided [RCV002303606]	uncertain significance	6	87530837	87530837	Human		name
155798102	CV1860591	single nucleotide variant	NM_020320.5(RARS2):c.736G>T (p.Asp246Tyr)	not provided [RCV002467233]	uncertain significance	6	87530819	87530819	Human		name
155937677	CV1867918	single nucleotide variant	NM_020320.5(RARS2):c.734G>A (p.Arg245Gln)	Inborn genetic diseases [RCV002571584]\|RARS2-related disorder [RCV003408294]\|not provided [RCV002574729]\|not specified [RCV002510253]	pathogenic\|likely pathogenic\|uncertain significance	6	87530821	87530821	Human	2	name , trait , alternate_id
156387577	CV1875667	single nucleotide variant	NM_020320.5(RARS2):c.686G>A (p.Arg229Gln)	not provided [RCV003050991]	uncertain significance	6	87530869	87530869	Human		name
156394219	CV1876332	single nucleotide variant	NM_020320.5(RARS2):c.403A>G (p.Asn135Asp)	Inborn genetic diseases [RCV005264330]\|not provided [RCV003068393]	uncertain significance	6	87548639	87548639	Human	1	name
156246618	CV1890444	single nucleotide variant	NM_020320.5(RARS2):c.394A>G (p.Ser132Gly)	not provided [RCV003085949]	uncertain significance	6	87555409	87555409	Human		name
156413018	CV1891523	single nucleotide variant	NM_020320.5(RARS2):c.817C>T (p.Arg273Cys)	not provided [RCV003073123]	uncertain significance	6	87529603	87529603	Human		name
156071636	CV1893532	single nucleotide variant	NM_020320.5(RARS2):c.700G>A (p.Asp234Asn)	not provided [RCV003079559]	uncertain significance	6	87530855	87530855	Human		name
156208674	CV1906120	single nucleotide variant	NM_020320.5(RARS2):c.653G>A (p.Ser218Asn)	not provided [RCV003084505]	uncertain significance	6	87530902	87530902	Human		name
156418921	CV1918987	single nucleotide variant	NM_020320.5(RARS2):c.587C>T (p.Ser196Phe)	not provided [RCV002612132]	uncertain significance	6	87541943	87541943	Human		name
156380051	CV1927468	single nucleotide variant	NM_020320.5(RARS2):c.965A>G (p.Tyr322Cys)	Pontocerebellar hypoplasia type 6 [RCV004572805]\|not provided [RCV002634198]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	6	87524566	87524566	Human	1	name
156447228	CV1944944	single nucleotide variant	NM_020320.5(RARS2):c.829C>T (p.Gln277Ter)	Pontocerebellar hypoplasia type 6 [RCV003459778]\|not provided [RCV003118755]	pathogenic\|likely pathogenic	6	87529591	87529591	Human	1	name
156247554	CV1969609	single nucleotide variant	NM_020320.5(RARS2):c.935C>T (p.Thr312Ile)	not provided [RCV002597359]	uncertain significance	6	87524596	87524596	Human		name
156136487	CV1977281	single nucleotide variant	NM_020320.5(RARS2):c.919C>A (p.Pro307Thr)	not provided [RCV002593677]	uncertain significance	6	87524612	87524612	Human		name
156414500	CV1986691	single nucleotide variant	NM_020320.5(RARS2):c.425T>C (p.Val142Ala)	not provided [RCV002609231]	uncertain significance	6	87548617	87548617	Human		name
156226081	CV2009477	single nucleotide variant	NM_020320.5(RARS2):c.405T>A (p.Asn135Lys)	not provided [RCV002701187]	uncertain significance	6	87548637	87548637	Human		name
156078450	CV2011894	single nucleotide variant	NM_020320.5(RARS2):c.914G>A (p.Gly305Asp)	not provided [RCV002705909]	uncertain significance	6	87524617	87524617	Human		name
156022763	CV2025514	duplication	NM_020320.5(RARS2):c.1055dup (p.His353fs)	Pontocerebellar hypoplasia type 6 [RCV003464590]\|not provided [RCV002735453]	pathogenic	6	87520236	87520237	Human	1	name
155993088	CV2049916	single nucleotide variant	NM_020320.5(RARS2):c.809C>G (p.Ser270Ter)	not provided [RCV002819296]	pathogenic	6	87529611	87529611	Human		name
156159271	CV2073971	deletion	NM_020320.5(RARS2):c.1274del (p.Glu425fs)	not provided [RCV002851148]	pathogenic	6	87518855	87518855	Human		name
156028382	CV2096853	single nucleotide variant	NM_020320.5(RARS2):c.649A>T (p.Lys217Ter)	not provided [RCV002885288]	pathogenic	6	87530906	87530906	Human		name
156215732	CV2107042	single nucleotide variant	NM_020320.5(RARS2):c.362G>T (p.Gly121Val)	not provided [RCV002918355]	uncertain significance	6	87555441	87555441	Human		name
10410617	CV211263	duplication	NM_020320.5(RARS2):c.1724dup (p.Cys576fs)	Pontocerebellar hypoplasia type 6 [RCV001833152]\|not specified [RCV000198541]	uncertain significance	6	87514425	87514426	Human	1	name
10410858	CV211275	single nucleotide variant	NM_020320.5(RARS2):c.970A>G (p.Thr324Ala)	Pontocerebellar hypoplasia type 6 [RCV001828030]\|not provided [RCV000199049]	uncertain significance	6	87524561	87524561	Human	1	name
10409947	CV211276	single nucleotide variant	NM_020320.5(RARS2):c.953G>A (p.Gly318Glu)	not provided [RCV000197178]	likely pathogenic	6	87524578	87524578	Human		name
10411650	CV211277	single nucleotide variant	NM_020320.5(RARS2):c.943C>T (p.Arg315Ter)	Pontocerebellar hypoplasia type 6 [RCV000995853]\|not provided [RCV000200708]	pathogenic\|likely pathogenic	6	87524588	87524588	Human	1	name
10410417	CV211278	single nucleotide variant	NM_020320.5(RARS2):c.916G>A (p.Asp306Asn)	not provided [RCV000198135]	conflicting interpretations of pathogenicity\|uncertain significance	6	87524615	87524615	Human		name
10409847	CV211280	single nucleotide variant	NM_020320.5(RARS2):c.818G>T (p.Arg273Leu)	Inborn genetic diseases [RCV004020417]\|Pontocerebellar hypoplasia type 6 [RCV000765896]\|not provided [RCV000196972]	conflicting interpretations of pathogenicity\|uncertain significance	6	87529602	87529602	Human	2	name
10411580	CV211281	single nucleotide variant	NM_020320.5(RARS2):c.818G>C (p.Arg273Pro)	Pontocerebellar hypoplasia type 6 [RCV000266998]\|not provided [RCV002054339]	likely pathogenic\|likely benign\|uncertain significance	6	87529602	87529602	Human	1	name
10410702	CV211282	single nucleotide variant	NM_020320.5(RARS2):c.773G>A (p.Arg258His)	Pontocerebellar hypoplasia type 6 [RCV000765897]\|not provided [RCV000727871]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	6	87529647	87529647	Human	1	name
10409458	CV211283	single nucleotide variant	NM_020320.5(RARS2):c.772C>T (p.Arg258Cys)	Pontocerebellar hypoplasia type 6 [RCV004577946]\|not provided [RCV000196151]	pathogenic\|likely pathogenic	6	87529648	87529648	Human	1	name
10410486	CV211286	single nucleotide variant	NM_020320.5(RARS2):c.757A>G (p.Ile253Val)	Pontocerebellar hypoplasia type 6 [RCV001833150]\|not provided [RCV000198271]	uncertain significance	6	87530798	87530798	Human	1	name
10411196	CV211287	single nucleotide variant	NM_020320.5(RARS2):c.641C>T (p.Ala214Val)	not provided [RCV002517252]\|not specified [RCV000199759]	likely benign\|uncertain significance	6	87530914	87530914	Human		name
10411311	CV211289	single nucleotide variant	NM_020320.5(RARS2):c.419T>G (p.Phe140Cys)	Inborn genetic diseases [RCV000210707]\|Pontocerebellar hypoplasia type 6 [RCV000626035]\|Pontoneocerebellar hypoplasia [RCV002228881]\|not provided [RCV000200004]	pathogenic\|likely pathogenic	6	87548623	87548623	Human	4	name
156378973	CV2207852	single nucleotide variant	NM_020320.5(RARS2):c.697G>A (p.Gly233Ser)	Inborn genetic diseases [RCV002678324]	uncertain significance	6	87530858	87530858	Human	1	name
156127854	CV2223852	deletion	NM_020320.5(RARS2):c.1163del (p.Gly388fs)	Inborn genetic diseases [RCV002708266]	pathogenic	6	87519657	87519657	Human	1	name
156154107	CV2242242	single nucleotide variant	NM_020320.5(RARS2):c.790G>A (p.Asp264Asn)	Inborn genetic diseases [RCV002787080]	uncertain significance	6	87529630	87529630	Human	1	name
156173933	CV2326895	single nucleotide variant	NM_020320.5(RARS2):c.638C>G (p.Ala213Gly)	Inborn genetic diseases [RCV002929997]	uncertain significance	6	87530917	87530917	Human	1	name
329355644	CV2445559	single nucleotide variant	NM_020320.5(RARS2):c.413A>G (p.Lys138Arg)	Inborn genetic diseases [RCV003202941]	uncertain significance	6	87548629	87548629	Human	1	name
401720612	CV2737281	single nucleotide variant	NM_020320.5(RARS2):c.761G>C (p.Arg254Pro)	not provided [RCV003314220]	uncertain significance	6	87530794	87530794	Human		name
401892527	CV2782141	single nucleotide variant	NM_020320.5(RARS2):c.763G>T (p.Val255Phe)	Inborn genetic diseases [RCV003370132]	uncertain significance	6	87530792	87530792	Human	1	name
401948087	CV2833269	deletion	NM_020320.5(RARS2):c.70_77del (p.Leu24fs)	Pontocerebellar hypoplasia type 6 [RCV003471795]\|not provided [RCV003779092]	pathogenic\|likely pathogenic	6	87569550	87569557	Human	1	name
401943916	CV2833270	microsatellite	NM_020320.5(RARS2):c.45_46del (p.Arg15fs)	Pontocerebellar hypoplasia type 6 [RCV003463464]	likely pathogenic	6	87569581	87569582	Human		name
401948078	CV2833274	single nucleotide variant	NM_020320.5(RARS2):c.723G>A (p.Trp241Ter)	Pontocerebellar hypoplasia type 6 [RCV003471798]	likely pathogenic	6	87530832	87530832	Human	1	name
401943922	CV2833276	deletion	NM_020320.5(RARS2):c.53_60del (p.Asn18fs)	Pontocerebellar hypoplasia type 6 [RCV003463466]	likely pathogenic	6	87569567	87569574	Human	1	name
401943934	CV2833283	duplication	NM_020320.5(RARS2):c.1583dup (p.Leu528fs)	Pontocerebellar hypoplasia type 6 [RCV003463469]	likely pathogenic	6	87516808	87516809	Human	1	name
401943946	CV2833288	single nucleotide variant	NM_020320.5(RARS2):c.598C>T (p.Gln200Ter)	Pontocerebellar hypoplasia type 6 [RCV003463473]	likely pathogenic	6	87541932	87541932	Human	1	name
401943957	CV2833297	single nucleotide variant	NM_020320.5(RARS2):c.798T>A (p.Tyr266Ter)	Pontocerebellar hypoplasia type 6 [RCV003463477]	likely pathogenic	6	87529622	87529622	Human	1	name
401961649	CV2843971	single nucleotide variant	NM_020320.5(RARS2):c.569A>G (p.Tyr190Cys)	not provided [RCV003481810]	uncertain significance	6	87541961	87541961	Human		name
402467602	CV2910561	single nucleotide variant	NM_020320.5(RARS2):c.398C>A (p.Ser133Ter)	not provided [RCV003569711]	pathogenic	6	87548644	87548644	Human		name
405179729	CV2959899	single nucleotide variant	NM_020320.5(RARS2):c.427G>T (p.Gly143Ter)	not provided [RCV003676073]	pathogenic	6	87548615	87548615	Human		name
11609742	CV309010	single nucleotide variant	NM_020320.5(RARS2):c.754T>A (p.Tyr252Asn)	Pontocerebellar hypoplasia type 6 [RCV000372032]\|not provided [RCV001723960]\|not specified [RCV000501102]	uncertain significance	6	87530801	87530801	Human	1	name
11609998	CV309107	single nucleotide variant	NM_020320.5(RARS2):c.442A>G (p.Thr148Ala)	Pontocerebellar hypoplasia type 6 [RCV000765898]\|not provided [RCV000489086]\|not specified [RCV004586690]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	6	87548600	87548600	Human	1	name
402477693	CV3170159	single nucleotide variant	NM_020320.5(RARS2):c.583C>T (p.Gln195Ter)	not provided [RCV003875547]	pathogenic	6	87541947	87541947	Human		name
405871442	CV3399264	single nucleotide variant	NM_020320.5(RARS2):c.529C>T (p.Gln177Ter)	Pontocerebellar hypoplasia type 6 [RCV004574695]	likely pathogenic	6	87545622	87545622	Human	1	name
405871165	CV3399265	deletion	NM_020320.5(RARS2):c.1522del (p.Val508fs)	Pontocerebellar hypoplasia type 6 [RCV004574696]	likely pathogenic	6	87516870	87516870	Human	1	name
405871170	CV3399268	single nucleotide variant	NM_020320.5(RARS2):c.740T>A (p.Leu247Ter)	Pontocerebellar hypoplasia type 6 [RCV004574699]	likely pathogenic	6	87530815	87530815	Human	1	name
405871172	CV3399269	single nucleotide variant	NM_020320.5(RARS2):c.475G>T (p.Glu159Ter)	Pontocerebellar hypoplasia type 6 [RCV004574700]	likely pathogenic	6	87545676	87545676	Human	1	name
407428164	CV3412365	single nucleotide variant	NM_020320.5(RARS2):c.733C>T (p.Arg245Trp)	Pontocerebellar hypoplasia type 6 [RCV004787138]\|not provided [RCV004593533]	likely pathogenic\|uncertain significance	6	87530822	87530822	Human	1	name
407500662	CV3472422	single nucleotide variant	NM_020320.5(RARS2):c.655G>A (p.Val219Ile)	Inborn genetic diseases [RCV004669604]	likely benign	6	87530900	87530900	Human	1	name
407574435	CV3499446	single nucleotide variant	NM_020320.5(RARS2):c.761G>A (p.Arg254Gln)	not provided [RCV004719440]	uncertain significance	6	87530794	87530794	Human		name
408382083	CV3523995	single nucleotide variant	NM_020320.5(RARS2):c.437G>A (p.Arg146His)	not provided [RCV004766393]	uncertain significance	6	87548605	87548605	Human		name
408383830	CV3525862	single nucleotide variant	NM_020320.5(RARS2):c.760C>T (p.Arg254Trp)	not specified [RCV004766772]	uncertain significance	6	87530795	87530795	Human		name
408384126	CV3525919	single nucleotide variant	NM_020320.5(RARS2):c.601C>G (p.His201Asp)	not specified [RCV004766829]	uncertain significance	6	87541929	87541929	Human		name
408394076	CV3526336	single nucleotide variant	NM_020320.5(RARS2):c.602A>G (p.His201Arg)	Pontocerebellar hypoplasia type 6 [RCV004771768]	uncertain significance	6	87541928	87541928	Human	1	name
597650090	CV3551861	single nucleotide variant	NM_020320.5(RARS2):c.431A>T (p.His144Leu)	not provided [RCV004820574]	uncertain significance	6	87548611	87548611	Human		name
597707986	CV3592931	single nucleotide variant	NM_020320.5(RARS2):c.590A>G (p.Asn197Ser)	Inborn genetic diseases [RCV004957611]	uncertain significance	6	87541940	87541940	Human	1	name
12741669	CV361128	single nucleotide variant	NM_020320.5(RARS2):c.407T>C (p.Val136Ala)	Pontocerebellar hypoplasia type 6 [RCV002248649]\|Severe intellectual deficiency [RCV000414873]\|not provided [RCV001764348]	pathogenic\|uncertain significance	6	87548635	87548635	Human	2	name
597685934	CV3718696	deletion	NM_020320.5(RARS2):c.1548del (p.Gln517fs)	Pontocerebellar hypoplasia type 6 [RCV005045868]	likely pathogenic	6	87516844	87516844	Human	1	name
597685962	CV3718700	duplication	NM_020320.5(RARS2):c.1325dup (p.Leu442fs)	Pontocerebellar hypoplasia type 6 [RCV005045871]	likely pathogenic	6	87518719	87518720	Human	1	name
597685996	CV3718702	single nucleotide variant	NM_020320.5(RARS2):c.944G>A (p.Arg315Gln)	Pontocerebellar hypoplasia type 6 [RCV005045874]\|not provided [RCV005105278]	likely pathogenic	6	87524587	87524587	Human	1	name
597950898	CV3769370	single nucleotide variant	NM_020320.5(RARS2):c.398C>G (p.Ser133Ter)	not provided [RCV005120929]	pathogenic	6	87548644	87548644	Human		name
597847285	CV3823978	single nucleotide variant	NM_020320.5(RARS2):c.715T>C (p.Ser239Pro)	not provided [RCV005173217]	uncertain significance	6	87530840	87530840	Human		name
597939360	CV3836427	single nucleotide variant	NM_020320.5(RARS2):c.731T>A (p.Phe244Tyr)	not provided [RCV005187448]	uncertain significance	6	87530824	87530824	Human		name
597940155	CV3836619	single nucleotide variant	NM_020320.5(RARS2):c.998G>A (p.Arg333Gln)	not provided [RCV005187640]	uncertain significance	6	87521501	87521501	Human		name
598183769	CV3905502	single nucleotide variant	NM_020320.5(RARS2):c.555C>A (p.Phe185Leu)	Inborn genetic diseases [RCV005265654]	uncertain significance	6	87541975	87541975	Human	1	name
617150475	CV4018978	single nucleotide variant	NM_020320.5(RARS2):c.695T>C (p.Leu232Pro)	not provided [RCV005423386]	uncertain significance	6	87530860	87530860	Human		name
13472539	CV444022	single nucleotide variant	NM_020320.5(RARS2):c.473A>G (p.Lys158Arg)	not provided [RCV000519153]	uncertain significance	6	87545678	87545678	Human		name
13528564	CV513424	deletion	NM_020320.5(RARS2):c.1612del (p.Thr538fs)	Pontocerebellar hypoplasia type 6 [RCV000626036]\|not provided [RCV003718273]	pathogenic\|likely pathogenic	6	87514995	87514995	Human	1	name
14395865	CV611666	single nucleotide variant	NM_020320.5(RARS2):c.685C>T (p.Arg229Ter)	Pontocerebellar hypoplasia type 6 [RCV003465679]\|not provided [RCV000760580]	pathogenic\|likely pathogenic	6	87530870	87530870	Human	1	name
14689514	CV621024	single nucleotide variant	NM_020320.5(RARS2):c.848T>A (p.Leu283Gln)	Congenital cerebellar hypoplasia [RCV001258003]\|Pontocerebellar hypoplasia type 6 [RCV000779649]\|Pontoneocerebellar hypoplasia [RCV001553691]\|not provided [RCV001869150]	pathogenic\|likely pathogenic	6	87529572	87529572	Human	5	name
14703633	CV635325	deletion	NM_020320.5(RARS2):c.1387del (p.Leu463fs)	not provided [RCV000794571]	pathogenic	6	87518658	87518658	Human		name
21071531	CV790666	single nucleotide variant	NM_020320.5(RARS2):c.449T>C (p.Ile150Thr)	Pontocerebellar hypoplasia type 6 [RCV000987752]	likely pathogenic	6	87548593	87548593	Human	1	name
26895806	CV832597	single nucleotide variant	NM_020320.5(RARS2):c.839T>G (p.Leu280Ter)	Pontocerebellar hypoplasia type 6 [RCV003467822]\|not provided [RCV001064292]	pathogenic\|likely pathogenic	6	87529581	87529581	Human	1	name
38494491	CV924523	single nucleotide variant	NM_020320.5(RARS2):c.809C>A (p.Ser270Ter)	not provided [RCV001225014]	pathogenic	6	87529611	87529611	Human		name
40904943	CV978367	single nucleotide variant	NM_020320.5(RARS2):c.709G>A (p.Ala237Thr)	Inborn genetic diseases [RCV002541671]\|Pontocerebellar hypoplasia type 6 [RCV001278029]	uncertain significance	6	87530846	87530846	Human	2	name
40904944	CV978368	single nucleotide variant	NM_020320.5(RARS2):c.637G>A (p.Ala213Thr)	Pontocerebellar hypoplasia type 6 [RCV001278030]	uncertain significance	6	87530918	87530918	Human	1	name
41408069	CV980693	single nucleotide variant	NM_020320.5(RARS2):c.901C>T (p.Leu301Phe)	Pontocerebellar hypoplasia type 6 [RCV004799575]\|not provided [RCV002537914]	uncertain significance	6	87524630	87524630	Human	1	name
150447774	CV1015201	single nucleotide variant	NM_020320.5(RARS2):c.1037C>T (p.Thr346Ile)	Pontocerebellar hypoplasia type 6 [RCV001647234]\|not provided [RCV004590332]\|not specified [RCV002298932]	likely pathogenic\|uncertain significance	6	87520255	87520255	Human	1	name
126732607	CV1020302	single nucleotide variant	NM_020320.5(RARS2):c.1168G>A (p.Val390Ile)	Pontocerebellar hypoplasia type 6 [RCV001334068]	uncertain significance	6	87519652	87519652	Human	1	name
150338473	CV1174133	single nucleotide variant	NM_020320.5(RARS2):c.1312A>T (p.Lys438Ter)	Pontocerebellar hypoplasia type 6 [RCV001542407]\|not provided [RCV003708605]	pathogenic\|likely pathogenic	6	87518733	87518733	Human	1	name
150416768	CV1197594	single nucleotide variant	NM_020320.5(RARS2):c.1108G>C (p.Glu370Gln)	Pontocerebellar hypoplasia type 6 [RCV001827507]\|not provided [RCV001576021]	uncertain significance	6	87520184	87520184	Human	1	name
150469972	CV1209238	single nucleotide variant	NM_020320.5(RARS2):c.1413C>G (p.His471Gln)	Inborn genetic diseases [RCV004039523]\|Pontocerebellar hypoplasia type 6 [RCV001827539]\|not provided [RCV001588349]	conflicting interpretations of pathogenicity\|uncertain significance	6	87518632	87518632	Human	2	name
150516617	CV1287449	single nucleotide variant	NM_020320.5(RARS2):c.1519G>A (p.Glu507Lys)	not provided [RCV001723428]	uncertain significance	6	87516873	87516873	Human		name
150521156	CV1290908	single nucleotide variant	NM_020320.5(RARS2):c.1253A>G (p.Lys418Arg)	not provided [RCV001732536]	uncertain significance	6	87518876	87518876	Human		name
150556163	CV1296706	single nucleotide variant	NM_020320.5(RARS2):c.1567A>G (p.Ser523Gly)	not provided [RCV001773996]	uncertain significance	6	87516825	87516825	Human		name
151235265	CV1318527	single nucleotide variant	NM_020320.5(RARS2):c.1654A>G (p.Arg552Gly)	not provided [RCV001794850]	uncertain significance	6	87514496	87514496	Human		name
151355818	CV1327002	single nucleotide variant	NM_020320.5(RARS2):c.1246G>T (p.Glu416Ter)	Pontocerebellar hypoplasia type 6 [RCV005040394]\|not provided [RCV001822171]	pathogenic\|likely pathogenic	6	87518883	87518883	Human	1	name
151663140	CV1330953	single nucleotide variant	NM_020320.5(RARS2):c.1718C>T (p.Thr573Ile)	not provided [RCV005095291]\|not specified [RCV001825131]	likely benign\|uncertain significance	6	87514432	87514432	Human		name
151781299	CV1418980	single nucleotide variant	NM_020320.5(RARS2):c.1079T>C (p.Met360Thr)	not provided [RCV001915905]	uncertain significance	6	87520213	87520213	Human		name
151729707	CV1440958	single nucleotide variant	NM_020320.5(RARS2):c.1432G>T (p.Gly478Ter)	not provided [RCV001945913]	pathogenic	6	87518248	87518248	Human		name
151768087	CV1445358	single nucleotide variant	NM_020320.5(RARS2):c.1313A>G (p.Lys438Arg)	not provided [RCV002025094]	uncertain significance	6	87518732	87518732	Human		name
151709203	CV1476229	single nucleotide variant	NM_020320.5(RARS2):c.1080G>C (p.Met360Ile)	not provided [RCV001907626]	uncertain significance	6	87520212	87520212	Human		name
151847736	CV1502368	single nucleotide variant	NM_020320.5(RARS2):c.1616T>A (p.Leu539Gln)	not provided [RCV001882183]	uncertain significance	6	87514991	87514991	Human		name
152152740	CV1623273	single nucleotide variant	NM_020320.5(RARS2):c.1642G>T (p.Val548Leu)	not provided [RCV002221068]	likely benign	6	87514965	87514965	Human		name
152981787	CV1677081	single nucleotide variant	NM_020320.5(RARS2):c.1257C>A (p.Asn419Lys)	not specified [RCV002248150]	uncertain significance	6	87518872	87518872	Human		name
152983307	CV1678130	single nucleotide variant	NM_020320.5(RARS2):c.1390C>T (p.Gln464Ter)	Pontocerebellar hypoplasia type 6 [RCV002250286]\|not provided [RCV003094037]	pathogenic\|likely pathogenic	6	87518655	87518655	Human	1	name
156260374	CV1872316	single nucleotide variant	NM_020320.5(RARS2):c.1176C>A (p.Phe392Leu)	Inborn genetic diseases [RCV003171011]\|not provided [RCV003060337]	uncertain significance	6	87519644	87519644	Human	1	name
156212069	CV1872471	single nucleotide variant	NM_020320.5(RARS2):c.1231A>G (p.Ile411Val)	not provided [RCV003058566]	uncertain significance	6	87519589	87519589	Human		name
156205873	CV1905903	single nucleotide variant	NM_020320.5(RARS2):c.1621A>G (p.Ile541Val)	not provided [RCV003084398]	uncertain significance	6	87514986	87514986	Human		name
156266354	CV1910387	single nucleotide variant	NM_020320.5(RARS2):c.1352G>A (p.Arg451His)	Inborn genetic diseases [RCV003250792]\|not provided [RCV002627942]	uncertain significance	6	87518693	87518693	Human	1	name
156418857	CV1918861	single nucleotide variant	NM_020320.5(RARS2):c.1057C>T (p.His353Tyr)	not provided [RCV002612067]	uncertain significance	6	87520235	87520235	Human		name
156445097	CV1945092	single nucleotide variant	NM_020320.5(RARS2):c.1013A>G (p.Asn338Ser)	not provided [RCV003116033]	uncertain significance	6	87521486	87521486	Human		name
156020726	CV2040588	single nucleotide variant	NM_020320.5(RARS2):c.1421A>G (p.Glu474Gly)	not provided [RCV002795571]	uncertain significance	6	87518259	87518259	Human		name
156141522	CV2040842	single nucleotide variant	NM_020320.5(RARS2):c.1577T>C (p.Leu526Pro)	not provided [RCV002786540]	uncertain significance	6	87516815	87516815	Human		name
156169377	CV2041469	single nucleotide variant	NM_020320.5(RARS2):c.1145G>A (p.Gly382Glu)	not provided [RCV002741812]	uncertain significance	6	87519675	87519675	Human		name
155989249	CV2053116	single nucleotide variant	NM_020320.5(RARS2):c.1319T>G (p.Leu440Ter)	Pontocerebellar hypoplasia type 6 [RCV003464602]\|not provided [RCV002819127]	pathogenic\|likely pathogenic	6	87518726	87518726	Human	1	name
156025058	CV2106051	single nucleotide variant	NM_020320.5(RARS2):c.1123G>A (p.Val375Met)	not provided [RCV002923250]	uncertain significance	6	87519697	87519697	Human		name
10410235	CV211264	single nucleotide variant	NM_020320.5(RARS2):c.1679G>A (p.Arg560His)	Pontocerebellar hypoplasia type 6 [RCV000765895]\|not provided [RCV000197761]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	6	87514471	87514471	Human	1	name
10409338	CV211265	single nucleotide variant	NM_020320.4(RARS2):c.1657C>A (p.Leu553Ile)	not provided [RCV000195917]	likely pathogenic	6	87514493	87514493	Human		name
10410742	CV211266	single nucleotide variant	NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu)	Inborn genetic diseases [RCV002517253]\|Pontocerebellar hypoplasia type 6 [RCV000404282]\|not provided [RCV000876202]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	87514970	87514970	Human	2	name
10411397	CV211268	single nucleotide variant	NM_020320.5(RARS2):c.1439G>A (p.Gly480Glu)	Inborn genetic diseases [RCV002517254]\|Pontoneocerebellar hypoplasia [RCV000397935]\|not provided [RCV000200173]	uncertain significance	6	87518241	87518241	Human	3	name
10410129	CV211269	single nucleotide variant	NM_020320.5(RARS2):c.1366C>T (p.Arg456Cys)	Inborn genetic diseases [RCV004020418]\|Pontocerebellar hypoplasia type 6 [RCV000312542]\|not provided [RCV000197557]\|not specified [RCV002271456]	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	87518679	87518679	Human	2	name
10409233	CV211270	single nucleotide variant	NM_020320.5(RARS2):c.1334A>G (p.Tyr445Cys)	not provided [RCV000195702]	likely pathogenic	6	87518711	87518711	Human		name
10409483	CV211271	single nucleotide variant	NM_020320.5(RARS2):c.1221C>A (p.Asn407Lys)	not specified [RCV000196204]	likely benign	6	87519599	87519599	Human		name
10410965	CV211272	single nucleotide variant	NM_020320.5(RARS2):c.1211T>A (p.Met404Lys)	not provided [RCV000199270]	pathogenic\|likely pathogenic	6	87519609	87519609	Human		name
10410027	CV211273	single nucleotide variant	NM_020320.5(RARS2):c.1086G>T (p.Lys362Asn)	Pontocerebellar hypoplasia type 6 [RCV001828031]\|not provided [RCV000197332]	uncertain significance	6	87520206	87520206	Human	1	name
10409109	CV211274	single nucleotide variant	NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)	Pontocerebellar hypoplasia type 6 [RCV000987751]\|Pontoneocerebellar hypoplasia [RCV001290636]\|not provided [RCV000195456]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	6	87521473	87521473	Human	3	name
155933113	CV2153170	single nucleotide variant	NM_020320.5(RARS2):c.1347G>C (p.Trp449Cys)	not provided [RCV003013750]	uncertain significance	6	87518698	87518698	Human		name
156225278	CV2176378	single nucleotide variant	NM_020320.5(RARS2):c.1241C>G (p.Thr414Ser)	not provided [RCV003059103]	uncertain significance	6	87518888	87518888	Human		name
156054420	CV2192614	single nucleotide variant	NM_020320.5(RARS2):c.1679G>T (p.Arg560Leu)	not provided [RCV003037026]	uncertain significance	6	87514471	87514471	Human		name
156388019	CV2221689	single nucleotide variant	NM_020320.5(RARS2):c.1126C>T (p.Pro376Ser)	Inborn genetic diseases [RCV002724020]	uncertain significance	6	87519694	87519694	Human	1	name
156041235	CV2261366	single nucleotide variant	NM_020320.5(RARS2):c.1733T>C (p.Met578Thr)	Inborn genetic diseases [RCV002821753]	uncertain significance	6	87514417	87514417	Human	1	name
156272774	CV2277590	single nucleotide variant	NM_020320.5(RARS2):c.1072T>C (p.Phe358Leu)	Inborn genetic diseases [RCV002877694]	uncertain significance	6	87520220	87520220	Human	1	name
156011496	CV2291147	single nucleotide variant	NM_020320.5(RARS2):c.1255A>G (p.Asn419Asp)	Inborn genetic diseases [RCV002884149]	uncertain significance	6	87518874	87518874	Human	1	name
243051549	CV2413689	single nucleotide variant	NM_020320.5(RARS2):c.1535C>T (p.Ser512Leu)	Pontocerebellar hypoplasia type 6 [RCV003130389]	uncertain significance	6	87516857	87516857	Human	1	name
243059712	CV2413690	single nucleotide variant	NM_020320.5(RARS2):c.1363A>G (p.Ser455Gly)	Pontocerebellar hypoplasia type 6 [RCV003135210]	uncertain significance	6	87518682	87518682	Human	1	name
329350830	CV2421839	single nucleotide variant	NM_020320.5(RARS2):c.1261C>T (p.Gln421Ter)	Pontocerebellar hypoplasia type 6 [RCV003159541]\|not provided [RCV003548998]	pathogenic\|likely pathogenic	6	87518868	87518868	Human	1	name
329847047	CV2524128	single nucleotide variant	NM_020320.5(RARS2):c.1490C>G (p.Ser497Ter)	Pontoneocerebellar hypoplasia [RCV003226834]	likely pathogenic	6	87518190	87518190	Human	2	name
11633871	CV264299	single nucleotide variant	NM_020320.5(RARS2):c.1423G>T (p.Glu475Ter)	Pontocerebellar hypoplasia type 6 [RCV003463739]\|not provided [RCV000374729]	pathogenic\|likely pathogenic	6	87518257	87518257	Human	1	name
401828783	CV2743118	single nucleotide variant	NM_020320.5(RARS2):c.1516G>A (p.Asp506Asn)	not provided [RCV003325827]	uncertain significance	6	87516876	87516876	Human		name
401881441	CV2783835	single nucleotide variant	NM_020320.5(RARS2):c.1133G>T (p.Gly378Val)	Inborn genetic diseases [RCV003385356]	uncertain significance	6	87519687	87519687	Human	1	name
401943908	CV2833265	single nucleotide variant	NM_020320.5(RARS2):c.1471C>T (p.Gln491Ter)	Pontocerebellar hypoplasia type 6 [RCV003463461]	likely pathogenic	6	87518209	87518209	Human	1	name
401943911	CV2833266	single nucleotide variant	NM_020320.5(RARS2):c.1210A>G (p.Met404Val)	Pontocerebellar hypoplasia type 6 [RCV003463462]\|not provided [RCV003720923]	likely pathogenic	6	87519610	87519610	Human	1	name
401948068	CV2833280	single nucleotide variant	NM_020320.5(RARS2):c.1549C>T (p.Gln517Ter)	Pontocerebellar hypoplasia type 6 [RCV003471802]	likely pathogenic	6	87516843	87516843	Human	1	name
402464135	CV2919991	single nucleotide variant	NM_020320.5(RARS2):c.1426A>C (p.Thr476Pro)	not provided [RCV003568935]	uncertain significance	6	87518254	87518254	Human		name
405154425	CV2950609	insertion	NM_020320.5(RARS2):c.1305+18_1305+19insTAT	not provided [RCV003670202]	likely benign	6	87518805	87518806	Human		name
405245728	CV2969342	single nucleotide variant	NM_020320.5(RARS2):c.1032T>G (p.Tyr344Ter)	not provided [RCV003685247]	pathogenic	6	87521467	87521467	Human		name
405236039	CV2973319	single nucleotide variant	NM_020320.5(RARS2):c.1130T>C (p.Phe377Ser)	not provided [RCV003683098]	uncertain significance	6	87519690	87519690	Human		name
402502892	CV3010531	single nucleotide variant	NM_020320.5(RARS2):c.1216C>T (p.Gln406Ter)	not provided [RCV003688510]	pathogenic	6	87519604	87519604	Human		name
11592335	CV301222	single nucleotide variant	NM_020320.5(RARS2):c.1492A>G (p.Ile498Val)	Pontocerebellar hypoplasia type 6 [RCV000337832]\|not provided [RCV001861295]\|not specified [RCV000507727]	uncertain significance	6	87518188	87518188	Human	1	name
405251502	CV3050013	insertion	NM_020320.5(RARS2):c.1306-15_1306-14insAAT	not provided [RCV003721924]	likely benign	6	87518753	87518754	Human		name
405180481	CV3060599	single nucleotide variant	NM_020320.5(RARS2):c.1141C>T (p.Gln381Ter)	not provided [RCV003728724]	pathogenic	6	87519679	87519679	Human		name
405187810	CV3149201	single nucleotide variant	NM_020320.5(RARS2):c.1138G>A (p.Val380Ile)	not provided [RCV003843127]	uncertain significance	6	87519682	87519682	Human		name
405871177	CV3399272	single nucleotide variant	NM_020320.5(RARS2):c.1093G>T (p.Gly365Ter)	Pontocerebellar hypoplasia type 6 [RCV004574703]	likely pathogenic	6	87520199	87520199	Human	1	name
405866597	CV3401009	single nucleotide variant	NM_020320.5(RARS2):c.1152G>T (p.Lys384Asn)	Pontocerebellar hypoplasia type 6 [RCV004577125]	uncertain significance	6	87519668	87519668	Human	1	name
407427349	CV3410619	single nucleotide variant	NM_020320.5(RARS2):c.1157G>A (p.Arg386Gln)	not specified [RCV004586266]	uncertain significance	6	87519663	87519663	Human		name
407475327	CV3414345	single nucleotide variant	NM_020320.5(RARS2):c.1588C>T (p.His530Tyr)	Pontocerebellar hypoplasia type 6 [RCV004596681]\|not provided [RCV004697349]	likely pathogenic	6	87515019	87515019	Human	1	name
408381743	CV3502016	single nucleotide variant	NM_020320.5(RARS2):c.1282G>C (p.Gly428Arg)	not provided [RCV004729544]	uncertain significance	6	87518847	87518847	Human		name
408389891	CV3524813	single nucleotide variant	NM_020320.5(RARS2):c.1481A>T (p.Gln494Leu)	not provided [RCV004769708]	uncertain significance	6	87518199	87518199	Human		name
596931350	CV3531686	single nucleotide variant	NM_020320.5(RARS2):c.1331A>C (p.Asp444Ala)	not provided [RCV004781248]	uncertain significance	6	87518714	87518714	Human		name
597632003	CV3552761	single nucleotide variant	NM_020320.5(RARS2):c.1318T>G (p.Leu440Val)	not provided [RCV004823589]	uncertain significance	6	87518727	87518727	Human		name
597707978	CV3592930	single nucleotide variant	NM_020320.5(RARS2):c.1187T>C (p.Val396Ala)	Inborn genetic diseases [RCV004957610]	uncertain significance	6	87519633	87519633	Human	1	name
12848770	CV369096	single nucleotide variant	NM_020320.5(RARS2):c.1616T>C (p.Leu539Pro)	not provided [RCV000417917]	likely pathogenic	6	87514991	87514991	Human		name
12837830	CV370620	single nucleotide variant	NM_020320.5(RARS2):c.1338G>C (p.Lys446Asn)	not specified [RCV000425841]	likely benign	6	87518707	87518707	Human		name
597685944	CV3718698	single nucleotide variant	NM_020320.5(RARS2):c.1535C>A (p.Ser512Ter)	Pontocerebellar hypoplasia type 6 [RCV005045869]	likely pathogenic	6	87516857	87516857	Human	1	name
597887016	CV3787498	single nucleotide variant	NM_020320.5(RARS2):c.1427C>T (p.Thr476Ile)	not provided [RCV005125064]	uncertain significance	6	87518253	87518253	Human		name
12858964	CV389132	single nucleotide variant	NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro)	Abnormal brain morphology [RCV000454292]\|Inborn genetic diseases [RCV002522741]\|Pontocerebellar hypoplasia type 6 [RCV003463833]\|Pontoneocerebellar hypoplasia [RCV002282147]\|RARS2-related disorder [RCV003418144]\|not provided [RCV002225614]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	6	87518718	87518718	Human	5	name , trait , alternate_id
598183765	CV3905501	single nucleotide variant	NM_020320.5(RARS2):c.1022C>T (p.Thr341Ile)	Inborn genetic diseases [RCV005265653]	uncertain significance	6	87521477	87521477	Human	1	name
598183776	CV3905503	single nucleotide variant	NM_020320.5(RARS2):c.1416T>G (p.Ser472Arg)	Inborn genetic diseases [RCV005265655]	uncertain significance	6	87518264	87518264	Human	1	name
8568669	CV39868	single nucleotide variant	NM_020320.5(RARS2):c.1024A>G (p.Met342Val)	Pontocerebellar hypoplasia type 6 [RCV000023898]\|not specified [RCV002468977]	pathogenic\|uncertain significance	6	87521475	87521475	Human	1	name
12902518	CV406941	single nucleotide variant	NM_020320.5(RARS2):c.1442A>G (p.Tyr481Cys)	Pontocerebellar hypoplasia type 6 [RCV001829392]\|not provided [RCV000487313]	uncertain significance	6	87518238	87518238	Human	1	name
13211767	CV425716	single nucleotide variant	NM_020320.5(RARS2):c.1555A>G (p.Arg519Gly)	Pontocerebellar hypoplasia type 6 [RCV005044748]\|not provided [RCV000497887]	uncertain significance	6	87516837	87516837	Human	1	name
13217029	CV428633	single nucleotide variant	NM_020320.5(RARS2):c.1438G>A (p.Gly480Arg)	not specified [RCV000504501]	uncertain significance	6	87518242	87518242	Human		name
13508831	CV481453	single nucleotide variant	NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly)	Pontocerebellar hypoplasia type 6 [RCV000578317]\|not provided [RCV001312080]	pathogenic\|likely pathogenic	6	87516848	87516848	Human	1	name
13532998	CV511690	single nucleotide variant	NM_020320.5(RARS2):c.1708C>T (p.Leu570Phe)	Inborn genetic diseases [RCV000624766]\|Pontocerebellar hypoplasia type 6 [RCV001273016]\|not provided [RCV001821757]	likely pathogenic\|uncertain significance	6	87514442	87514442	Human	2	name
13705500	CV536721	single nucleotide variant	NM_020320.5(RARS2):c.1518C>A (p.Asp506Glu)	not provided [RCV000658050]	uncertain significance	6	87516874	87516874	Human		name
13704834	CV539005	single nucleotide variant	NM_020320.5(RARS2):c.1405C>T (p.Arg469Cys)	Pontocerebellar hypoplasia type 6 [RCV000662082]\|not provided [RCV001855398]\|not specified [RCV003323664]	likely pathogenic\|uncertain significance	6	87518640	87518640	Human	1	name
14394372	CV609634	single nucleotide variant	NM_020320.5(RARS2):c.1406G>A (p.Arg469His)	Pontocerebellar hypoplasia type 6 [RCV002500978]\|Pontoneocerebellar hypoplasia [RCV002282353]\|not provided [RCV000757711]	pathogenic\|likely pathogenic	6	87518639	87518639	Human	3	name
14709897	CV635326	single nucleotide variant	NM_020320.5(RARS2):c.1156C>T (p.Arg386Ter)	Inborn genetic diseases [RCV004028669]\|Pontocerebellar hypoplasia type 6 [RCV003461186]\|not provided [RCV000809462]	pathogenic\|likely pathogenic	6	87519664	87519664	Human	2	name
15139735	CV692077	single nucleotide variant	NM_020320.5(RARS2):c.1236G>C (p.Lys412Asn)	Pontocerebellar hypoplasia type 6 [RCV001280524]\|not provided [RCV000877366]	benign\|conflicting interpretations of pathogenicity	6	87519584	87519584	Human	1	name
15148733	CV765901	single nucleotide variant	NM_020320.5(RARS2):c.1678C>T (p.Arg560Cys)	Pontocerebellar hypoplasia type 6 [RCV001273122]\|not provided [RCV000945172]	benign\|likely benign\|conflicting interpretations of pathogenicity	6	87514472	87514472	Human	1	name
21071528	CV790665	single nucleotide variant	NM_020320.5(RARS2):c.1282G>A (p.Gly428Arg)	Pontocerebellar hypoplasia type 6 [RCV000987750]\|not specified [RCV004526054]	likely pathogenic\|uncertain significance	6	87518847	87518847	Human	1	name
26902568	CV857620	single nucleotide variant	NM_020320.5(RARS2):c.1564G>A (p.Val522Ile)	Pontocerebellar hypoplasia type 6 [RCV001089498]\|not provided [RCV001862656]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	6	87516828	87516828	Human	1	name
28909712	CV897008	single nucleotide variant	NM_020320.5(RARS2):c.1367G>A (p.Arg456His)	Pontocerebellar hypoplasia type 6 [RCV001160817]\|not provided [RCV002558525]	uncertain significance	6	87518678	87518678	Human	1	name
38598899	CV964915	single nucleotide variant	NM_020320.5(RARS2):c.1369G>A (p.Gly457Arg)	Pontocerebellar hypoplasia type 6 [RCV001254170]	uncertain significance	6	87518676	87518676	Human	1	name
40907043	CV978366	single nucleotide variant	NM_020320.5(RARS2):c.1675G>A (p.Val559Ile)	Pontocerebellar hypoplasia type 6 [RCV001280523]	uncertain significance	6	87514475	87514475	Human	1	name
127266535	CV1060920	microsatellite	NM_020320.5(RARS2):c.282_285del (p.Arg94fs)	Pontocerebellar hypoplasia type 6 [RCV003462979]\|not provided [RCV001381726]	pathogenic\|likely pathogenic	6	87562714	87562717	Human		name
127262304	CV1060921	microsatellite	NM_020320.5(RARS2):c.284_285del (p.Glu95fs)	Pontocerebellar hypoplasia type 6 [RCV003463019]\|not provided [RCV001387682]	pathogenic\|likely pathogenic	6	87562714	87562715	Human		name
127238068	CV1060922	duplication	NM_020320.5(RARS2):c.259_262dup (p.Val88fs)	not provided [RCV001382948]	pathogenic	6	87562736	87562737	Human		name
151772516	CV1357252	deletion	NM_020320.5(RARS2):c.277_280del (p.Asn93fs)	Pontocerebellar hypoplasia type 6 [RCV003470964]\|not provided [RCV001864211]	pathogenic\|likely pathogenic	6	87562719	87562722	Human	1	name
401943940	CV2833285	deletion	NM_020320.5(RARS2):c.176_177del (p.Pro59fs)	Pontocerebellar hypoplasia type 6 [RCV003463471]	likely pathogenic	6	87564166	87564167	Human	1	name
14704603	CV635328	deletion	NM_020320.5(RARS2):c.233_234del (p.Val78fs)	Pontocerebellar hypoplasia type 6 [RCV003461173]\|not provided [RCV000807811]	pathogenic\|likely pathogenic	6	87562765	87562766	Human	1	name
126738400	CV1000555	microsatellite	NM_020320.5(RARS2):c.307CAA[1] (p.Gln104del)	not provided [RCV001312081]	uncertain significance	6	87555491	87555493	Human		name
151815600	CV1486021	microsatellite	NM_020320.5(RARS2):c.473AAG[1] (p.Glu159del)	not provided [RCV002049276]	uncertain significance	6	87545673	87545675	Human		name
156203211	CV2011042	deletion	NM_020320.5(RARS2):c.965_966del (p.Tyr322fs)	Pontocerebellar hypoplasia type 6 [RCV004571211]\|not provided [RCV002700351]	pathogenic\|likely pathogenic	6	87524565	87524566	Human	1	name
156297255	CV2017124	deletion	NM_020320.5(RARS2):c.830_831del (p.Gln277fs)	Pontocerebellar hypoplasia type 6 [RCV004571214]\|not provided [RCV002715898]	pathogenic\|likely pathogenic	6	87529589	87529590	Human	1	name
401948071	CV2833278	deletion	NM_020320.5(RARS2):c.379_385del (p.Ile127fs)	Pontocerebellar hypoplasia type 6 [RCV003471801]	likely pathogenic	6	87555418	87555424	Human	1	name
405222289	CV2976250	duplication	NM_020320.5(RARS2):c.757_760dup (p.Arg254fs)	Pontocerebellar hypoplasia type 6 [RCV004574246]\|not provided [RCV003680866]	pathogenic\|likely pathogenic	6	87530794	87530795	Human	1	name
405063148	CV3020618	deletion	NM_020320.5(RARS2):c.697_703del (p.Gly233fs)	not provided [RCV003697833]	pathogenic	6	87530852	87530858	Human		name
405181022	CV3147520	duplication	NM_020320.5(RARS2):c.788_789dup (p.Asp264fs)	not provided [RCV003842422]	pathogenic	6	87529630	87529631	Human		name
405871181	CV3399274	deletion	NM_020320.5(RARS2):c.348_349del (p.Ser116fs)	Pontocerebellar hypoplasia type 6 [RCV004574705]	likely pathogenic	6	87555454	87555455	Human	1	name
597832162	CV3751267	microsatellite	NM_020320.5(RARS2):c.721_722del (p.Trp241fs)	not provided [RCV005084813]	pathogenic	6	87530833	87530834	Human		name
597878417	CV3763261	indel	NM_020320.5(RARS2):c.1_2delinsCC (p.Met1Pro)	not provided [RCV005108856]	pathogenic	6	87589956	87589957	Human		name
14714624	CV635327	microsatellite	NM_020320.5(RARS2):c.963_964del (p.Tyr322fs)	Pontocerebellar hypoplasia type 6 [RCV003133604]\|not provided [RCV000794491]	pathogenic\|likely pathogenic	6	87524567	87524568	Human		name
26918127	CV832598	deletion	NM_020320.5(RARS2):c.474_477del (p.Glu159fs)	Pontocerebellar hypoplasia type 6 [RCV001784586]\|not provided [RCV001042995]	pathogenic\|likely pathogenic	6	87545674	87545677	Human	1	name
38492659	CV924524	deletion	NM_020320.5(RARS2):c.633_636del (p.Glu212fs)	Pontocerebellar hypoplasia type 6 [RCV003462761]\|Pontoneocerebellar hypoplasia [RCV002469355]\|not provided [RCV001223741]	pathogenic\|likely pathogenic	6	87530919	87530922	Human	3	name
40886944	CV973563	deletion	NM_020320.5(RARS2):c.500_503del (p.Arg167fs)	Inborn genetic diseases [RCV001266271]	pathogenic	6	87545648	87545651	Human	1	name
126727150	CV1016800	microsatellite	NM_020320.5(RARS2):c.1297ATT[1] (p.Ile434del)	Pontocerebellar hypoplasia type 6 [RCV001332318]	uncertain significance	6	87518827	87518829	Human		name
10411142	CV211288	deletion	NM_020320.5(RARS2):c.472_474del (p.Lys158del)	Pontocerebellar hypoplasia type 6 [RCV000850512]\|Pontoneocerebellar hypoplasia [RCV002271457]\|not provided [RCV000199643]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	6	87545677	87545679	Human	3	name
151729599	CV1335395	deletion	NM_020320.5(RARS2):c.1628_1631del (p.Asp543fs)	Pontocerebellar hypoplasia type 6 [RCV004571121]\|Pontoneocerebellar hypoplasia [RCV001844713]	likely pathogenic	6	87514976	87514979	Human	3	name
10406807	CV207424	deletion	NM_020320.5(RARS2):c.1054_1055del (p.Lys352fs)	Pontocerebellar hypoplasia type 6 [RCV000194218]\|not provided [RCV002517124]	pathogenic\|likely pathogenic	6	87520237	87520238	Human	1	name
10409684	CV211267	duplication	NM_020320.5(RARS2):c.1582_1583dup (p.Leu528fs)	Pontocerebellar hypoplasia type 6 [RCV003462310]\|RARS2-related disorder [RCV003401073]\|not provided [RCV000196620]	pathogenic\|likely pathogenic	6	87516808	87516809	Human	1	name , trait , alternate_id
156024627	CV2175111	deletion	NM_020320.5(RARS2):c.1381_1385del (p.Val461fs)	Pontocerebellar hypoplasia type 6 [RCV003459716]\|not provided [RCV003035903]	pathogenic\|likely pathogenic	6	87518660	87518664	Human	1	name
401943901	CV2833263	deletion	NM_020320.5(RARS2):c.1629_1630del (p.Asp543fs)	Pontocerebellar hypoplasia type 6 [RCV003463459]	likely pathogenic	6	87514977	87514978	Human	1	name
401948066	CV2833282	deletion	NM_020320.5(RARS2):c.1357_1358del (p.Phe453fs)	Pontocerebellar hypoplasia type 6 [RCV003471803]	likely pathogenic	6	87518687	87518688	Human	1	name
401943952	CV2833293	deletion	NM_020320.5(RARS2):c.1315_1318del (p.Gly439fs)	Pontocerebellar hypoplasia type 6 [RCV003463475]	likely pathogenic	6	87518727	87518730	Human	1	name
401947982	CV2833300	microsatellite	NM_020320.5(RARS2):c.1425_1426del (p.Glu475fs)	Pontocerebellar hypoplasia type 6 [RCV003471810]	likely pathogenic	6	87518254	87518255	Human		name
405033187	CV3012683	deletion	NM_020320.5(RARS2):c.1484_1485del (p.Ser495fs)	not provided [RCV003695522]	pathogenic	6	87518195	87518196	Human		name
405871176	CV3399271	deletion	NM_020320.5(RARS2):c.1226_1233del (p.Ala409fs)	Pontocerebellar hypoplasia type 6 [RCV004574702]	likely pathogenic	6	87519587	87519594	Human	1	name
12894736	CV406942	deletion	NM_020320.5(RARS2):c.1340_1365del (p.Phe447fs)	Pontocerebellar hypoplasia type 6 [RCV003464019]\|not provided [RCV000483947]	pathogenic\|likely pathogenic	6	87518680	87518705	Human	1	name
14704334	CV635324	deletion	NM_020320.5(RARS2):c.1430_1431del (p.Phe477fs)	Pontocerebellar hypoplasia type 6 [RCV004569645]\|not provided [RCV000807726]	pathogenic\|likely pathogenic	6	87518249	87518250	Human	1	name
14745860	CV662019	insertion	NM_020320.5(RARS2):c.613-4111_613-4110insGATAA	not provided [RCV000843824]	benign	6	87535052	87535053	Human		name
38464417	CV933538	microsatellite	NM_020320.5(RARS2):c.1480_1481del (p.Gln494fs)	Pontocerebellar hypoplasia type 6 [RCV003469355]\|not provided [RCV001212482]	pathogenic\|likely pathogenic	6	87518199	87518200	Human		name
405871161	CV3399263	indel	NM_020320.5(RARS2):c.122_129delinsT (p.Asp41fs)	Pontocerebellar hypoplasia type 6 [RCV004574694]	likely pathogenic	6	87564214	87564221	Human		name
38456681	CV954935	indel	NM_020320.5(RARS2):c.1144delinsATT (p.Gly382fs)	not provided [RCV001245853]	pathogenic	6	87519676	87519676	Human		name
401943898	CV2833262	indel	NM_020320.5(RARS2):c.436_437delinsA (p.Arg146fs)	Pontocerebellar hypoplasia type 6 [RCV003463458]\|Pontoneocerebellar hypoplasia [RCV003988120]	pathogenic\|likely pathogenic	6	87548605	87548606	Human		name
405082596	CV3017043	deletion	NM_020320.5(RARS2):c.80del (p.Thr26_Ser27insTer)	not provided [RCV003699156]	pathogenic	6	87569547	87569547	Human		name
151835042	CV1408553	insertion	NM_020320.5(RARS2):c.699_700insACATC (p.Asp234fs)	Pontocerebellar hypoplasia type 6 [RCV003464224]\|not provided [RCV001935460]	pathogenic\|likely pathogenic	6	87530855	87530856	Human	1	name
401947980	CV2833295	indel	NM_020320.5(RARS2):c.1568_1569delinsC (p.Ser523fs)	Pontocerebellar hypoplasia type 6 [RCV003471809]	likely pathogenic	6	87516823	87516824	Human		name
38490972	CV924525	deletion	NM_020320.5(RARS2):c.160_161del (p.Asp53_Asn54insTer)	Pontocerebellar hypoplasia type 6 [RCV003462757]\|Pontoneocerebellar hypoplasia [RCV005057118]\|not provided [RCV001222539]	pathogenic\|likely pathogenic	6	87564182	87564183	Human	3	name
156415937	CV1983817	microsatellite	NM_020320.5(RARS2):c.1097_1098del (p.Gly365_Tyr366insTer)	Pontocerebellar hypoplasia type 6 [RCV004571194]\|not provided [RCV002609914]	pathogenic\|likely pathogenic	6	87520194	87520195	Human		name
597685984	CV3718701	deletion	NM_020320.5(RARS2):c.1229_1233del (p.Ala409_Ser410insTer)	Pontocerebellar hypoplasia type 6 [RCV005045873]	likely pathogenic	6	87519587	87519591	Human	1	name
151763648	CV1499365	insertion	NM_020320.5(RARS2):c.226_227insAGTGAAAT (p.Thr76delinsLysTer)	not provided [RCV001863382]	pathogenic	6	87562772	87562773	Human		name
401947977	CV2833291	duplication	NM_020320.5(RARS2):c.826_842dup (p.Lys281delinsAsnLeuLysArgSerTer)	Pontocerebellar hypoplasia type 6 [RCV003471807]	pathogenic	6	87529577	87529578	Human	1	name
401943926	CV2833279	indel	NM_020320.5(RARS2):c.347_348delinsCTTATTAA (p.Ser116delinsThrTyrTer)	Pontocerebellar hypoplasia type 6 [RCV003463467]	likely pathogenic	6	87555455	87555456	Human		name
156143481	CV2134240	indel	NM_020320.5(RARS2):c.1405delinsTCGCCCGATGTGTAGGAAGAGGCAGATAAAGAATATTGAGGCGCCATTGGCGTGAAGGTAGCGGATGATTCAGCCATAATTTACGTCTCGAGTGATGTGGGCGATTGATGAAAAGGCGGTTGAGGCGTCTGGTGAGTAGTGCATGGCTAGGAATAGTCCTGTGGTGATTTGGAGGATCAGGCAG (p.Arg469delinsSerProAspValTer)	not provided [RCV002982399]	pathogenic	6	87518640	87518640	Human		name

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