Eprs Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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414 records found for search term Eprs

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8624895	CV80011	single nucleotide variant	NM_004446.2(EPRS):c.163C>T (p.Leu55Phe)	Malignant melanoma [RCV000060087]	not provided	1	220034982	220034982	Human		name
156268305	CV2026745	single nucleotide variant	NM_004446.3(EPRS1):c.46+9C>T	not provided [RCV002746550]	likely benign	1	220046334	220046334	Human		name
127316589	CV1153504	single nucleotide variant	NM_004446.3(EPRS1):c.231+5G>A	not provided [RCV001520562]	benign\|likely benign	1	220034909	220034909	Human		name
152984147	CV1672905	single nucleotide variant	NM_004446.3(EPRS1):c.750+7A>G	not provided [RCV002238501]	likely benign	1	220025125	220025125	Human		name
152984150	CV1672908	single nucleotide variant	NM_004446.3(EPRS1):c.624-8T>C	not provided [RCV002238504]	likely benign	1	220025266	220025266	Human		name
152984155	CV1672913	single nucleotide variant	NM_004446.3(EPRS1):c.388+5C>T	not provided [RCV002238509]	uncertain significance	1	220033497	220033497	Human		name
152984924	CV1672916	single nucleotide variant	NM_004446.3(EPRS1):c.231+6C>T	not provided [RCV002239529]	uncertain significance	1	220034908	220034908	Human		name
156021543	CV1882362	single nucleotide variant	NM_004446.3(EPRS1):c.231+7A>C	not provided [RCV003077645]	likely benign	1	220034907	220034907	Human		name
156046338	CV1978058	single nucleotide variant	NM_004446.3(EPRS1):c.46+18A>G	not provided [RCV002590508]	likely benign	1	220046325	220046325	Human		name
156394186	CV1984338	single nucleotide variant	NM_004446.3(EPRS1):c.231+8A>G	not provided [RCV002635297]	likely benign	1	220034906	220034906	Human		name
404981897	CV3121170	single nucleotide variant	NM_004446.3(EPRS1):c.47-19C>A	not provided [RCV003826162]	likely benign	1	220040288	220040288	Human		name
405722932	CV3249227	single nucleotide variant	NM_004446.3(EPRS1):c.623+6A>G	Inborn genetic diseases [RCV004378232]	uncertain significance	1	220030380	220030380	Human	1	name
597963772	CV3792030	single nucleotide variant	NM_004446.3(EPRS1):c.944-3T>C	not provided [RCV005139586]	uncertain significance	1	220022521	220022521	Human		name
597961963	CV3795323	single nucleotide variant	NM_004446.3(EPRS1):c.131+3A>G	not provided [RCV005139015]	uncertain significance	1	220040182	220040182	Human		name
126739682	CV1015651	single nucleotide variant	NM_004446.3(EPRS1):c.4244+3A>C	Leukodystrophy, hypomyelinating, 15 [RCV001329256]\|not provided [RCV002242301]	uncertain significance	1	219973235	219973235	Human	1	name
127296399	CV1153501	single nucleotide variant	NM_004446.3(EPRS1):c.1115+7A>G	EPRS1-related disorder [RCV003980500]\|not provided [RCV001512502]	benign	1	220022340	220022340	Human	1	name , trait , alternate_id
127303950	CV1153503	single nucleotide variant	NM_004446.3(EPRS1):c.232-17G>A	Leukodystrophy, hypomyelinating, 15 [RCV001664933]\|not provided [RCV001515681]	benign	1	220033675	220033675	Human	1	name
152984053	CV1672776	single nucleotide variant	NM_004446.3(EPRS1):c.3301-5A>C	not provided [RCV002238406]	likely benign	1	219982849	219982849	Human		name
152984070	CV1672799	single nucleotide variant	NM_004446.3(EPRS1):c.3091-9T>G	not provided [RCV002238423]	likely benign	1	219983407	219983407	Human		name
152984074	CV1672803	single nucleotide variant	NM_004446.3(EPRS1):c.3039-4G>T	not provided [RCV002238427]	likely benign	1	219984261	219984261	Human		name
152984916	CV1672884	single nucleotide variant	NM_004446.3(EPRS1):c.1743-6A>G	not provided [RCV002239521]	likely benign	1	220006319	220006319	Human		name
152984143	CV1672896	single nucleotide variant	NM_004446.3(EPRS1):c.1116-4C>G	not provided [RCV002238497]	likely benign	1	220020225	220020225	Human		name
152984153	CV1672911	duplication	NM_004446.3(EPRS1):c.528+14dup	not provided [RCV002238507]	benign	1	220032372	220032373	Human		name
152984154	CV1672912	single nucleotide variant	NM_004446.3(EPRS1):c.388+18T>C	not provided [RCV002238508]	likely benign	1	220033484	220033484	Human		name
152984159	CV1672921	single nucleotide variant	NM_004446.3(EPRS1):c.132-18C>T	not provided [RCV002238513]	benign	1	220035031	220035031	Human		name
156201532	CV1925622	single nucleotide variant	NM_004446.3(EPRS1):c.1951-8C>G	not provided [RCV002643649]	likely benign	1	220005368	220005368	Human		name
156262733	CV1960722	single nucleotide variant	NM_004446.3(EPRS1):c.3910-8G>A	not provided [RCV002576900]	likely benign	1	219978727	219978727	Human		name
156092154	CV1963357	single nucleotide variant	NM_004446.3(EPRS1):c.388+20A>G	not provided [RCV002570262]	likely benign	1	220033482	220033482	Human		name
156264330	CV1977680	single nucleotide variant	NM_004446.3(EPRS1):c.132-15G>A	not provided [RCV002597884]	likely benign	1	220035028	220035028	Human		name
156357787	CV2020205	single nucleotide variant	NM_004446.3(EPRS1):c.3556-5T>C	not provided [RCV002720654]	likely benign	1	219980245	219980245	Human		name
156204053	CV2034865	single nucleotide variant	NM_004446.3(EPRS1):c.1494+1G>T	not provided [RCV002766348]	likely pathogenic\|uncertain significance	1	220018448	220018448	Human		name
156347828	CV2052017	deletion	NM_004446.3(EPRS1):c.1116-5del	not provided [RCV002811564]	benign	1	220020226	220020226	Human		name
156331024	CV2065358	single nucleotide variant	NM_004446.3(EPRS1):c.2541+7A>C	not provided [RCV002835299]	likely benign	1	219996976	219996976	Human		name
156024280	CV2077919	single nucleotide variant	NM_004446.3(EPRS1):c.1434+8A>C	not provided [RCV002866756]	likely benign	1	220018987	220018987	Human		name
155989649	CV2105651	deletion	NM_004446.3(EPRS1):c.3374-4del	EPRS1-related disorder [RCV003916635]\|not provided [RCV002947270]	likely benign	1	219981461	219981461	Human	1	name , trait , alternate_id
156222545	CV2115200	single nucleotide variant	NM_004446.3(EPRS1):c.2775+5G>A	EPRS1-related disorder [RCV003943575]\|not provided [RCV002932514]	likely benign	1	219988585	219988585	Human	1	name , trait , alternate_id
156189901	CV2160786	single nucleotide variant	NM_004446.3(EPRS1):c.3910-3T>C	not provided [RCV003024097]	uncertain significance	1	219978722	219978722	Human		name
156374089	CV2190787	single nucleotide variant	NM_004446.3(EPRS1):c.623+11G>A	not provided [RCV003049950]	likely benign	1	220030375	220030375	Human		name
404993862	CV3132471	single nucleotide variant	NM_004446.3(EPRS1):c.3301-6T>C	not provided [RCV003827410]	likely benign	1	219982850	219982850	Human		name
405217166	CV3153745	single nucleotide variant	NM_004446.3(EPRS1):c.2776-8A>T	not provided [RCV003846628]	likely benign	1	219987412	219987412	Human		name
405266771	CV3220136	single nucleotide variant	NM_004446.3(EPRS1):c.1743-8A>C	EPRS1-related disorder [RCV003969405]	likely benign	1	220006321	220006321	Human		name , trait , alternate_id
405722841	CV3249215	single nucleotide variant	NM_004446.3(EPRS1):c.3711+4T>C	EPRS1-related disorder [RCV004758292]\|Inborn genetic diseases [RCV004378220]	likely benign\|uncertain significance	1	219980081	219980081	Human	2	name , trait , alternate_id
405722887	CV3249221	single nucleotide variant	NM_004446.3(EPRS1):c.4389-5T>G	Inborn genetic diseases [RCV004378226]	uncertain significance	1	219968961	219968961	Human	1	name
408380785	CV3501698	single nucleotide variant	NM_004446.3(EPRS1):c.4084-1G>A	not provided [RCV004729226]	uncertain significance	1	219973399	219973399	Human		name
597831871	CV3863969	single nucleotide variant	NM_004446.3(EPRS1):c.1434+5G>A	Leukodystrophy, hypomyelinating, 15 [RCV005208383]	uncertain significance	1	220018990	220018990	Human	1	name
15173938	CV778799	single nucleotide variant	NM_004446.3(EPRS1):c.2775+3T>C	not provided [RCV000972670]	benign	1	219988587	219988587	Human		name
127294646	CV1153498	duplication	NM_004446.3(EPRS1):c.1951-18dup	Leukodystrophy, hypomyelinating, 15 [RCV001664911]\|not provided [RCV001511839]	benign	1	220005375	220005376	Human	1	name
150512241	CV1245320	single nucleotide variant	NM_004446.3(EPRS1):c.3373+24A>G	Leukodystrophy, hypomyelinating, 15 [RCV001661287]\|not provided [RCV004714291]	benign	1	219982748	219982748	Human	1	name
152984041	CV1672759	single nucleotide variant	NM_004446.3(EPRS1):c.4245-16T>C	not provided [RCV002238394]	likely benign	1	219972163	219972163	Human		name
152984050	CV1672773	single nucleotide variant	NM_004446.3(EPRS1):c.3374-11G>A	not provided [RCV002238403]	likely benign	1	219981468	219981468	Human		name
152984120	CV1672869	single nucleotide variant	NM_004446.3(EPRS1):c.2181+19A>G	not provided [RCV002238474]	likely benign	1	220001119	220001119	Human		name
152984124	CV1672873	single nucleotide variant	NM_004446.3(EPRS1):c.2181+14C>T	not provided [RCV002238478]	benign	1	220001124	220001124	Human		name
152984128	CV1672877	single nucleotide variant	NM_004446.3(EPRS1):c.2064-17C>T	not provided [RCV002238482]	likely benign	1	220001272	220001272	Human		name
152984132	CV1672885	single nucleotide variant	NM_004446.3(EPRS1):c.1742+11T>C	not provided [RCV002238486]	likely benign	1	220007191	220007191	Human		name
152984134	CV1672887	single nucleotide variant	NM_004446.3(EPRS1):c.1605+10A>G	not provided [RCV002238488]	likely benign	1	220010936	220010936	Human		name
152984135	CV1672888	single nucleotide variant	NM_004446.3(EPRS1):c.1495-10T>C	not provided [RCV002238489]	benign	1	220011066	220011066	Human		name
152984136	CV1672889	single nucleotide variant	NM_004446.3(EPRS1):c.1494+20G>A	not provided [RCV002238490]	benign	1	220018429	220018429	Human		name
152984137	CV1672890	single nucleotide variant	NM_004446.3(EPRS1):c.1350-10A>G	not provided [RCV002238491]	likely benign	1	220019089	220019089	Human		name
152984138	CV1672891	single nucleotide variant	NM_004446.3(EPRS1):c.1349+11T>G	not provided [RCV002238492]	uncertain significance	1	220019977	220019977	Human		name
156101986	CV1907169	single nucleotide variant	NM_004446.3(EPRS1):c.1495-10T>A	EPRS1-related disorder [RCV004758249]\|not provided [RCV003080636]	benign\|likely benign	1	220011066	220011066	Human	1	name , trait , alternate_id
156174563	CV1968534	single nucleotide variant	NM_004446.3(EPRS1):c.1950+18C>G	not provided [RCV002594875]	likely benign	1	220006088	220006088	Human		name
156386791	CV1979818	single nucleotide variant	NM_004446.3(EPRS1):c.3555+20A>C	not provided [RCV002604345]	likely benign	1	219980736	219980736	Human		name
156197673	CV2014567	single nucleotide variant	NM_004446.3(EPRS1):c.3556-16A>G	not provided [RCV002700168]	likely benign	1	219980256	219980256	Human		name
156136145	CV2048094	single nucleotide variant	NM_004446.3(EPRS1):c.3712-15C>G	not provided [RCV002800790]	benign	1	219979630	219979630	Human		name
155940694	CV2068103	single nucleotide variant	NM_004446.3(EPRS1):c.3712-13C>T	not provided [RCV002839386]	likely benign	1	219979628	219979628	Human		name
155955853	CV2086969	single nucleotide variant	NM_004446.3(EPRS1):c.3090+14C>T	not provided [RCV002862599]	likely benign	1	219984192	219984192	Human		name
405146518	CV2949949	single nucleotide variant	NM_004446.3(EPRS1):c.4388+10A>T	not provided [RCV003669666]	likely benign	1	219969048	219969048	Human		name
405135410	CV3115620	single nucleotide variant	NM_004446.3(EPRS1):c.1950+14G>T	not provided [RCV003816277]	likely benign	1	220006092	220006092	Human		name
405041283	CV3141064	single nucleotide variant	NM_004446.3(EPRS1):c.3373+19G>A	not provided [RCV003831357]	likely benign	1	219982753	219982753	Human		name
405179515	CV3151081	single nucleotide variant	NM_004446.3(EPRS1):c.1495-11A>G	not provided [RCV003842165]	likely benign	1	220011067	220011067	Human		name
597904306	CV3738276	single nucleotide variant	NM_004446.3(EPRS1):c.4244+19T>C	not provided [RCV005072698]	likely benign	1	219973219	219973219	Human		name
597861910	CV3745134	single nucleotide variant	NM_004446.3(EPRS1):c.2775+19T>G	not provided [RCV005067490]	likely benign	1	219988571	219988571	Human		name
597949219	CV3772301	single nucleotide variant	NM_004446.3(EPRS1):c.1605+12A>G	not provided [RCV005120620]	likely benign	1	220010934	220010934	Human		name
597961124	CV3794826	deletion	NM_004446.3(EPRS1):c.3909+10del	not provided [RCV005138731]	benign	1	219979408	219979408	Human		name
597976155	CV3829164	single nucleotide variant	NM_004446.3(EPRS1):c.2064-19C>T	not provided [RCV005169613]	likely benign	1	220001274	220001274	Human		name
597834898	CV3831961	single nucleotide variant	NM_004446.3(EPRS1):c.3091-17A>G	not provided [RCV005170964]	likely benign	1	219983415	219983415	Human		name
597893330	CV3857068	single nucleotide variant	NM_004446.3(EPRS1):c.3556-12A>G	not provided [RCV005200931]	likely benign	1	219980252	219980252	Human		name
156028122	CV2004732	microsatellite	NM_004446.3(EPRS1):c.4323+4AG[2]	not provided [RCV002658541]	likely benign	1	219972060	219972061	Human		name
156417718	CV1910016	microsatellite	NM_004446.3(EPRS1):c.3712-15CT[2]	not provided [RCV002610879]	likely benign	1	219979623	219979626	Human		name
156234668	CV1982370	microsatellite	NM_004446.3(EPRS1):c.1494+14CT[2]	not provided [RCV002626924]	likely benign	1	220018430	220018431	Human		name
597864592	CV3814195	microsatellite	NM_004446.3(EPRS1):c.3453+18_3453+19del	not provided [RCV005147264]	likely benign	1	219981359	219981360	Human		name
126739673	CV1015653	single nucleotide variant	NM_004446.3(EPRS1):c.3215G>A (p.Gly1072Asp)	EPRS1-related disorder [RCV004758161]\|Inborn genetic diseases [RCV004035666]\|Leukodystrophy, hypomyelinating, 15 [RCV001329254]\|not provided [RCV001443524]	likely benign\|uncertain significance	1	219983274	219983274	Human	2	name , trait , alternate_id
127319098	CV1153490	single nucleotide variant	NM_004446.3(EPRS1):c.4008T>C (p.Ser1336=)	EPRS1-related disorder [RCV004758188]\|not provided [RCV001521951]	benign\|likely benign	1	219978621	219978621	Human	1	name , trait , alternate_id
127315316	CV1153494	single nucleotide variant	NM_004446.3(EPRS1):c.2991C>G (p.Leu997=)	EPRS1-related disorder [RCV003940953]\|not provided [RCV001519957]	benign\|likely benign	1	219987189	219987189	Human	1	name , trait , alternate_id
127296391	CV1153496	single nucleotide variant	NM_004446.3(EPRS1):c.2678C>A (p.Pro893His)	EPRS1-related disorder [RCV003966075]\|not provided [RCV001512501]	benign	1	219988687	219988687	Human	1	name , trait , alternate_id
127302294	CV1153497	single nucleotide variant	NM_004446.3(EPRS1):c.2085C>T (p.Ala695=)	EPRS1-related disorder [RCV003931083]\|not provided [RCV001515007]	benign\|likely benign	1	220001234	220001234	Human	1	name , trait , alternate_id
127308158	CV1153499	single nucleotide variant	NM_004446.3(EPRS1):c.1638T>C (p.Tyr546=)	EPRS1-related disorder [RCV003908847]\|not provided [RCV001517401]	benign\|likely benign	1	220007306	220007306	Human	1	name , trait , alternate_id
152984884	CV1672763	single nucleotide variant	NM_004446.3(EPRS1):c.4077G>A (p.Glu1359=)	EPRS1-related disorder [RCV003973352]\|not provided [RCV002239489]	benign\|likely benign	1	219978552	219978552	Human	1	name , trait , alternate_id
152984048	CV1672771	single nucleotide variant	NM_004446.3(EPRS1):c.3633G>A (p.Thr1211=)	EPRS1-related disorder [RCV003971203]\|not provided [RCV002238401]	benign\|likely benign	1	219980163	219980163	Human	1	name , trait , alternate_id
152984051	CV1672774	single nucleotide variant	NM_004446.3(EPRS1):c.3334C>T (p.Leu1112=)	EPRS1-related disorder [RCV003916396]\|not provided [RCV002238404]	benign	1	219982811	219982811	Human	1	name , trait , alternate_id
152984887	CV1672777	single nucleotide variant	NM_004446.3(EPRS1):c.3246G>A (p.Val1082=)	EPRS1-related disorder [RCV003903623]\|not provided [RCV002239492]	benign	1	219983243	219983243	Human	1	name , trait , alternate_id
152984089	CV1672825	single nucleotide variant	NM_004446.3(EPRS1):c.2773A>C (p.Lys925Gln)	EPRS1-related disorder [RCV003960949]\|Inborn genetic diseases [RCV004047320]\|not provided [RCV002238443]	benign\|likely benign	1	219988592	219988592	Human	2	name , trait , alternate_id
152984913	CV1672881	single nucleotide variant	NM_004446.3(EPRS1):c.1888A>G (p.Ile630Val)	EPRS1-related disorder [RCV003973353]\|not provided [RCV002239518]	likely benign	1	220006168	220006168	Human	1	name , trait , alternate_id
152984146	CV1672904	single nucleotide variant	NM_004446.3(EPRS1):c.795A>G (p.Gln265=)	EPRS1-related disorder [RCV003960950]\|not provided [RCV002238500]	likely benign	1	220024412	220024412	Human	1	name , trait , alternate_id
156404715	CV1898376	single nucleotide variant	NM_004446.3(EPRS1):c.804T>C (p.Tyr268=)	EPRS1-related disorder [RCV003936577]\|not provided [RCV002585472]	likely benign	1	220024403	220024403	Human	1	name , trait , alternate_id
405146238	CV2885271	single nucleotide variant	NM_004446.3(EPRS1):c.4309C>T (p.Leu1437=)	EPRS1-related disorder [RCV003946703]\|not provided [RCV003561360]	likely benign	1	219972083	219972083	Human	1	name , trait , alternate_id
405271982	CV3203025	single nucleotide variant	NM_004446.3(EPRS1):c.3008G>A (p.Gly1003Glu)	EPRS1-related disorder [RCV003914077]	likely benign	1	219987172	219987172	Human		name , trait , alternate_id
405294826	CV3212104	single nucleotide variant	NM_004446.3(EPRS1):c.2142G>A (p.Gly714=)	EPRS1-related disorder [RCV003934732]	likely benign	1	220001177	220001177	Human		name , trait , alternate_id
405270867	CV3212129	single nucleotide variant	NM_004446.3(EPRS1):c.591G>A (p.Lys197=)	EPRS1-related disorder [RCV003949497]\|not provided [RCV005101873]	likely benign	1	220030418	220030418	Human	1	name , trait , alternate_id
408383269	CV3503749	single nucleotide variant	NM_004446.3(EPRS1):c.8C>A (p.Thr3Lys)	EPRS1-related disorder [RCV004730544]	uncertain significance	1	220046381	220046381	Human		name , trait , alternate_id
15173954	CV707099	single nucleotide variant	NM_004446.3(EPRS1):c.886G>C (p.Ala296Pro)	EPRS1-related disorder [RCV003936149]\|not provided [RCV000972671]	benign	1	220024321	220024321	Human	1	name , trait , alternate_id
15192336	CV718665	single nucleotide variant	NM_004446.3(EPRS1):c.3785C>T (p.Pro1262Leu)	EPRS1-related disorder [RCV003955952]\|not provided [RCV000888635]	benign\|likely benign	1	219979542	219979542	Human	1	name , trait , alternate_id
15191673	CV718666	single nucleotide variant	NM_004446.3(EPRS1):c.1481C>T (p.Ala494Val)	EPRS1-related disorder [RCV003920714]\|not provided [RCV000888445]	benign	1	220018462	220018462	Human	1	name , trait , alternate_id
15161677	CV732158	single nucleotide variant	NM_004446.3(EPRS1):c.2575T>A (p.Ser859Thr)	EPRS1-related disorder [RCV003910788]\|Inborn genetic diseases [RCV004973151]\|not provided [RCV000903395]	likely benign	1	219988790	219988790	Human	2	name , trait , alternate_id
152984160	CV1672922	single nucleotide variant	NM_004446.3(EPRS1):c.93C>T (p.Ser31=)	not provided [RCV002238514]	likely benign	1	220040223	220040223	Human		name
156355549	CV2008953	single nucleotide variant	NM_004446.3(EPRS1):c.99A>G (p.Glu33=)	not provided [RCV002720501]	likely benign	1	220040217	220040217	Human		name
405241035	CV3061011	single nucleotide variant	NM_004446.3(EPRS1):c.36C>T (p.Asp12=)	not provided [RCV003737262]	likely benign	1	220046353	220046353	Human		name
405202833	CV3067052	single nucleotide variant	NM_004446.3(EPRS1):c.69C>T (p.His23=)	not provided [RCV003730903]	likely benign	1	220040247	220040247	Human		name
405722926	CV3249226	single nucleotide variant	NM_004446.3(EPRS1):c.4G>T (p.Ala2Ser)	Inborn genetic diseases [RCV004378231]	uncertain significance	1	220046385	220046385	Human	1	name
152984156	CV1672918	single nucleotide variant	NM_004446.3(EPRS1):c.189T>C (p.Thr63=)	not provided [RCV002238510]	likely benign	1	220034956	220034956	Human		name
152984157	CV1672919	single nucleotide variant	NM_004446.3(EPRS1):c.189T>A (p.Thr63=)	not provided [RCV002238511]	likely benign	1	220034956	220034956	Human		name
156038016	CV1998868	single nucleotide variant	NM_004446.3(EPRS1):c.117T>C (p.Ile39=)	not provided [RCV002658925]	likely benign	1	220040199	220040199	Human		name
155992298	CV2116452	single nucleotide variant	NM_004446.3(EPRS1):c.10C>T (p.Leu4Phe)	not provided [RCV002947386]	benign	1	220046379	220046379	Human		name
405195845	CV3146495	single nucleotide variant	NM_004446.3(EPRS1):c.270T>G (p.Ser90=)	not provided [RCV003843850]	likely benign	1	220033620	220033620	Human		name
597890765	CV3805016	single nucleotide variant	NM_004446.3(EPRS1):c.186A>G (p.Ala62=)	not provided [RCV005151278]	likely benign	1	220034959	220034959	Human		name
152984920	CV1672900	single nucleotide variant	NM_004446.3(EPRS1):c.900A>G (p.Lys300=)	not provided [RCV002239525]	likely benign	1	220024307	220024307	Human		name
152984144	CV1672902	single nucleotide variant	NM_004446.3(EPRS1):c.873G>A (p.Val291=)	not provided [RCV002238498]	likely benign	1	220024334	220024334	Human		name
152984148	CV1672906	single nucleotide variant	NM_004446.3(EPRS1):c.732A>G (p.Glu244=)	not provided [RCV002238502]	likely benign	1	220025150	220025150	Human		name
152984151	CV1672909	single nucleotide variant	NM_004446.3(EPRS1):c.579G>A (p.Ala193=)	not provided [RCV002238505]	likely benign	1	220030430	220030430	Human		name
152984922	CV1672914	single nucleotide variant	NM_004446.3(EPRS1):c.345C>T (p.Asn115=)	not provided [RCV002239527]	likely benign	1	220033545	220033545	Human		name
152984161	CV1672923	single nucleotide variant	NM_004446.3(EPRS1):c.79G>A (p.Asp27Asn)	Inborn genetic diseases [RCV004047326]\|not provided [RCV002238515]	likely benign\|uncertain significance	1	220040237	220040237	Human	1	name
152984162	CV1672924	single nucleotide variant	NM_004446.3(EPRS1):c.58G>A (p.Ala20Thr)	not provided [RCV002238516]	uncertain significance	1	220040258	220040258	Human		name
155939837	CV1913531	single nucleotide variant	NM_004446.3(EPRS1):c.94G>A (p.Val32Ile)	Inborn genetic diseases [RCV004621726]\|not provided [RCV002615556]	likely benign\|uncertain significance	1	220040222	220040222	Human	1	name
156298096	CV1919798	single nucleotide variant	NM_004446.3(EPRS1):c.960A>G (p.Leu320=)	not provided [RCV002599038]	benign	1	220022502	220022502	Human		name
156407813	CV1957615	single nucleotide variant	NM_004446.3(EPRS1):c.534T>G (p.Pro178=)	not provided [RCV002586334]	likely benign	1	220030475	220030475	Human		name
156160480	CV2009473	single nucleotide variant	NM_004446.3(EPRS1):c.61G>A (p.Val21Ile)	not provided [RCV002710152]	uncertain significance	1	220040255	220040255	Human		name
405722814	CV3249211	single nucleotide variant	NM_004446.3(EPRS1):c.29C>T (p.Ser10Leu)	Inborn genetic diseases [RCV004378216]	uncertain significance	1	220046360	220046360	Human	1	name
405722830	CV3249213	single nucleotide variant	NM_004446.3(EPRS1):c.32G>T (p.Gly11Val)	Inborn genetic diseases [RCV004378218]	uncertain significance	1	220046357	220046357	Human	1	name
405722964	CV3249231	single nucleotide variant	NM_004446.3(EPRS1):c.88A>G (p.Ile30Val)	Inborn genetic diseases [RCV004378236]	uncertain significance	1	220040228	220040228	Human	1	name
597675983	CV3671282	single nucleotide variant	NM_004446.3(EPRS1):c.34G>A (p.Asp12Asn)	Inborn genetic diseases [RCV004981997]\|not provided [RCV005110225]	uncertain significance	1	220046355	220046355	Human	1	name
597898395	CV3826624	single nucleotide variant	NM_004446.3(EPRS1):c.987G>A (p.Gly329=)	not provided [RCV005180757]	likely benign	1	220022475	220022475	Human		name
597870916	CV3849234	single nucleotide variant	NM_004446.3(EPRS1):c.516C>T (p.Thr172=)	not provided [RCV005197415]	likely benign	1	220032399	220032399	Human		name
597939483	CV3852908	single nucleotide variant	NM_004446.3(EPRS1):c.516C>A (p.Thr172=)	not provided [RCV005187309]	likely benign	1	220032399	220032399	Human		name
152984081	CV1672815	single nucleotide variant	NM_004446.3(EPRS1):c.2949T>C (p.Asp983=)	not provided [RCV002238435]	likely benign	1	219987231	219987231	Human		name
152984898	CV1672819	single nucleotide variant	NM_004446.3(EPRS1):c.2859G>C (p.Val953=)	not provided [RCV002239503]	likely benign	1	219987321	219987321	Human		name
152984092	CV1672832	single nucleotide variant	NM_004446.3(EPRS1):c.2703G>A (p.Ala901=)	not provided [RCV002238446]	benign	1	219988662	219988662	Human		name
152984907	CV1672846	single nucleotide variant	NM_004446.3(EPRS1):c.2598A>G (p.Glu866=)	not provided [RCV002239512]	likely benign	1	219988767	219988767	Human		name
152984127	CV1672876	single nucleotide variant	NM_004446.3(EPRS1):c.2088G>A (p.Pro696=)	not provided [RCV002238481]	likely benign	1	220001231	220001231	Human		name
152984131	CV1672880	single nucleotide variant	NM_004446.3(EPRS1):c.1914C>T (p.Asp638=)	not provided [RCV002238485]	likely benign	1	220006142	220006142	Human		name
152984915	CV1672883	single nucleotide variant	NM_004446.3(EPRS1):c.1749A>G (p.Ala583=)	not provided [RCV002239520]	benign	1	220006307	220006307	Human		name
152984140	CV1672893	single nucleotide variant	NM_004446.3(EPRS1):c.1296G>A (p.Val432=)	not provided [RCV002238494]	likely benign	1	220020041	220020041	Human		name
152984142	CV1672895	single nucleotide variant	NM_004446.3(EPRS1):c.1128A>G (p.Thr376=)	not provided [RCV002238496]	likely benign\|uncertain significance	1	220020209	220020209	Human		name
152984923	CV1672915	single nucleotide variant	NM_004446.3(EPRS1):c.234T>G (p.Ile78Met)	not provided [RCV002239528]	uncertain significance	1	220033656	220033656	Human		name
152984925	CV1672917	single nucleotide variant	NM_004446.3(EPRS1):c.227C>T (p.Thr76Ile)	not provided [RCV002239530]	uncertain significance	1	220034918	220034918	Human		name
152984158	CV1672920	single nucleotide variant	NM_004446.3(EPRS1):c.142T>A (p.Phe48Ile)	not provided [RCV002238512]	uncertain significance	1	220035003	220035003	Human		name
156284212	CV1897002	single nucleotide variant	NM_004446.3(EPRS1):c.2619A>T (p.Ile873=)	not provided [RCV003087225]	likely benign	1	219988746	219988746	Human		name
156410753	CV1929077	single nucleotide variant	NM_004446.3(EPRS1):c.2703G>C (p.Ala901=)	not provided [RCV002607968]	likely benign	1	219988662	219988662	Human		name
156408774	CV1954512	single nucleotide variant	NM_004446.3(EPRS1):c.1128A>C (p.Thr376=)	not provided [RCV002586611]	likely benign	1	220020209	220020209	Human		name
156204959	CV1959221	single nucleotide variant	NM_004446.3(EPRS1):c.181G>C (p.Val61Leu)	not provided [RCV002574922]	uncertain significance	1	220034964	220034964	Human		name
156267824	CV1970817	single nucleotide variant	NM_004446.3(EPRS1):c.1371G>A (p.Thr457=)	not provided [RCV002597992]	likely benign	1	220019058	220019058	Human		name
156085826	CV1987601	single nucleotide variant	NM_004446.3(EPRS1):c.2877G>A (p.Glu959=)	not provided [RCV002621693]	likely benign	1	219987303	219987303	Human		name
155992685	CV2027110	single nucleotide variant	NM_004446.3(EPRS1):c.2778T>C (p.Asp926=)	not provided [RCV002755820]	likely benign	1	219987402	219987402	Human		name
156230871	CV2048677	single nucleotide variant	NM_004446.3(EPRS1):c.1371G>T (p.Thr457=)	not provided [RCV002790993]	likely benign	1	220019058	220019058	Human		name
156014035	CV2076486	single nucleotide variant	NM_004446.3(EPRS1):c.2241T>C (p.Ser747=)	not provided [RCV002866257]	likely benign	1	219997283	219997283	Human		name
155987279	CV2109100	single nucleotide variant	NM_004446.3(EPRS1):c.2049T>C (p.Pro683=)	not provided [RCV002947159]	likely benign	1	220005262	220005262	Human		name
156323463	CV2173674	single nucleotide variant	NM_004446.3(EPRS1):c.208T>G (p.Ser70Ala)	not provided [RCV003046773]	uncertain significance	1	220034937	220034937	Human		name
401763467	CV2714563	single nucleotide variant	NM_004446.3(EPRS1):c.223C>T (p.His75Tyr)	Inborn genetic diseases [RCV003258219]	uncertain significance	1	220034922	220034922	Human	1	name
401936767	CV2816051	single nucleotide variant	NM_004446.3(EPRS1):c.1683G>A (p.Ser561=)	not provided [RCV003414777]	likely benign	1	220007261	220007261	Human		name
405085642	CV2946434	single nucleotide variant	NM_004446.3(EPRS1):c.1506A>G (p.Pro502=)	not provided [RCV003664822]	likely benign	1	220011045	220011045	Human		name
402514068	CV2948547	single nucleotide variant	NM_004446.3(EPRS1):c.1938C>T (p.Asn646=)	not provided [RCV003662733]	likely benign	1	220006118	220006118	Human		name
405046839	CV3141696	single nucleotide variant	NM_004446.3(EPRS1):c.2703G>T (p.Ala901=)	not provided [RCV003831797]	likely benign	1	219988662	219988662	Human		name
597675946	CV3671277	single nucleotide variant	NM_004446.3(EPRS1):c.102A>C (p.Glu34Asp)	Inborn genetic diseases [RCV004981992]	uncertain significance	1	220040214	220040214	Human	1	name
597835842	CV3739585	single nucleotide variant	NM_004446.3(EPRS1):c.2652T>C (p.Asp884=)	not provided [RCV005063804]	likely benign	1	219988713	219988713	Human		name
597914880	CV3740662	single nucleotide variant	NM_004446.3(EPRS1):c.2184C>T (p.Thr728=)	not provided [RCV005073999]	likely benign	1	219997340	219997340	Human		name
597846576	CV3746259	single nucleotide variant	NM_004446.3(EPRS1):c.2862G>A (p.Ser954=)	not provided [RCV005060077]	likely benign	1	219987318	219987318	Human		name
597856848	CV3758852	single nucleotide variant	NM_004446.3(EPRS1):c.1902G>T (p.Val634=)	not provided [RCV005088812]	likely benign	1	220006154	220006154	Human		name
597900379	CV3771215	single nucleotide variant	NM_004446.3(EPRS1):c.193G>A (p.Ala65Thr)	not provided [RCV005112180]	likely benign	1	220034952	220034952	Human		name
597905517	CV3846557	single nucleotide variant	NM_004446.3(EPRS1):c.2328T>C (p.Asp776=)	not provided [RCV005181984]	likely benign	1	219997196	219997196	Human		name
127302284	CV1153491	single nucleotide variant	NM_004446.3(EPRS1):c.3405G>A (p.Gln1135=)	Leukodystrophy, hypomyelinating, 15 [RCV001664927]\|not provided [RCV001515005]	benign	1	219981426	219981426	Human	1	name
127302288	CV1153493	single nucleotide variant	NM_004446.3(EPRS1):c.3102G>A (p.Lys1034=)	not provided [RCV001515006]	benign	1	219983387	219983387	Human		name
127302297	CV1153502	single nucleotide variant	NM_004446.3(EPRS1):c.924C>A (p.Asp308Glu)	Leukodystrophy, hypomyelinating, 15 [RCV001664928]\|not provided [RCV001515008]	benign	1	220024283	220024283	Human	1	name
152984036	CV1672754	single nucleotide variant	NM_004446.3(EPRS1):c.4488C>T (p.Val1496=)	not provided [RCV002238389]	likely benign	1	219968857	219968857	Human		name
152984038	CV1672756	single nucleotide variant	NM_004446.3(EPRS1):c.4428T>C (p.Ala1476=)	not provided [RCV002238391]	likely benign	1	219968917	219968917	Human		name
152984042	CV1672760	single nucleotide variant	NM_004446.3(EPRS1):c.4206A>G (p.Gln1402=)	not provided [RCV002238395]	likely benign	1	219973276	219973276	Human		name
152984883	CV1672762	single nucleotide variant	NM_004446.3(EPRS1):c.4143C>T (p.Ala1381=)	not provided [RCV002239488]	likely benign	1	219973339	219973339	Human		name
152984886	CV1672765	single nucleotide variant	NM_004446.3(EPRS1):c.4020C>T (p.Arg1340=)	not provided [RCV002239491]	likely benign	1	219978609	219978609	Human		name
152984061	CV1672787	single nucleotide variant	NM_004446.3(EPRS1):c.3183G>A (p.Lys1061=)	not provided [RCV002238414]	likely benign	1	219983306	219983306	Human		name
152984918	CV1672898	single nucleotide variant	NM_004446.3(EPRS1):c.970G>A (p.Glu324Lys)	not provided [RCV002239523]	uncertain significance	1	220022492	220022492	Human		name
152984919	CV1672899	single nucleotide variant	NM_004446.3(EPRS1):c.964A>G (p.Met322Val)	not provided [RCV002239524]	uncertain significance	1	220022498	220022498	Human		name
152984921	CV1672901	single nucleotide variant	NM_004446.3(EPRS1):c.883C>T (p.Pro295Ser)	not provided [RCV002239526]	uncertain significance	1	220024324	220024324	Human		name
152984145	CV1672903	single nucleotide variant	NM_004446.3(EPRS1):c.859G>A (p.Gly287Arg)	not provided [RCV002238499]	uncertain significance	1	220024348	220024348	Human		name
152984149	CV1672907	single nucleotide variant	NM_004446.3(EPRS1):c.700A>G (p.Met234Val)	not provided [RCV002238503]	uncertain significance	1	220025182	220025182	Human		name
152984152	CV1672910	single nucleotide variant	NM_004446.3(EPRS1):c.561T>A (p.Phe187Leu)	Inborn genetic diseases [RCV003269136]\|not provided [RCV002238506]	uncertain significance	1	220030448	220030448	Human	1	name
156435654	CV1695398	single nucleotide variant	NM_004446.3(EPRS1):c.635T>C (p.Ile212Thr)	Global developmental delay [RCV003126215]	pathogenic	1	220025247	220025247	Human	2	name
156311116	CV1913530	single nucleotide variant	NM_004446.3(EPRS1):c.3933T>C (p.Ile1311=)	not provided [RCV002599662]	likely benign	1	219978696	219978696	Human		name
156299374	CV1919870	single nucleotide variant	NM_004446.3(EPRS1):c.4092C>T (p.Pro1364=)	not provided [RCV002599094]	likely benign	1	219973390	219973390	Human		name
155964196	CV1931820	single nucleotide variant	NM_004446.3(EPRS1):c.3189T>C (p.Phe1063=)	not provided [RCV002616877]	likely benign	1	219983300	219983300	Human		name
155949270	CV1935957	single nucleotide variant	NM_004446.3(EPRS1):c.3279T>C (p.His1093=)	not provided [RCV002511609]	likely benign	1	219983210	219983210	Human		name
156444213	CV1937741	single nucleotide variant	NM_004446.3(EPRS1):c.901G>A (p.Ala301Thr)	Inborn genetic diseases [RCV004244594]\|not provided [RCV003115135]	uncertain significance	1	220024306	220024306	Human	1	name
156374783	CV1963435	single nucleotide variant	NM_004446.3(EPRS1):c.943C>T (p.Pro315Ser)	not provided [RCV002582711]	uncertain significance	1	220024264	220024264	Human		name
155979901	CV1972361	single nucleotide variant	NM_004446.3(EPRS1):c.830T>C (p.Met277Thr)	not provided [RCV002617552]	uncertain significance	1	220024377	220024377	Human		name
156001065	CV1987177	single nucleotide variant	NM_004446.3(EPRS1):c.520G>A (p.Ala174Thr)	Inborn genetic diseases [RCV005333281]\|not provided [RCV002618449]	uncertain significance	1	220032395	220032395	Human	1	name
156403397	CV1989397	single nucleotide variant	NM_004446.3(EPRS1):c.3651A>G (p.Ala1217=)	not provided [RCV002657842]	likely benign	1	219980145	219980145	Human		name
156286911	CV2001777	single nucleotide variant	NM_004446.3(EPRS1):c.3858T>A (p.Val1286=)	not provided [RCV002647043]	likely benign	1	219979469	219979469	Human		name
156379116	CV2050755	single nucleotide variant	NM_004446.3(EPRS1):c.3252A>G (p.Gln1084=)	not provided [RCV002814948]	likely benign	1	219983237	219983237	Human		name
155938590	CV2071700	single nucleotide variant	NM_004446.3(EPRS1):c.732A>C (p.Glu244Asp)	not provided [RCV002839256]	uncertain significance	1	220025150	220025150	Human		name
156303442	CV2079639	single nucleotide variant	NM_004446.3(EPRS1):c.408A>C (p.Glu136Asp)	not provided [RCV002857291]	uncertain significance	1	220032507	220032507	Human		name
156301361	CV2083355	single nucleotide variant	NM_004446.3(EPRS1):c.3513A>G (p.Glu1171=)	not provided [RCV002857187]	likely benign	1	219980798	219980798	Human		name
156095946	CV2087749	single nucleotide variant	NM_004446.3(EPRS1):c.368G>A (p.Cys123Tyr)	not provided [RCV002847896]	uncertain significance	1	220033522	220033522	Human		name
156343024	CV2123957	single nucleotide variant	NM_004446.3(EPRS1):c.4233C>T (p.Thr1411=)	not provided [RCV002939001]	likely benign	1	219973249	219973249	Human		name
156239654	CV2129466	single nucleotide variant	NM_004446.3(EPRS1):c.4230C>T (p.Val1410=)	not provided [RCV002958822]	likely benign	1	219973252	219973252	Human		name
156229087	CV2140856	single nucleotide variant	NM_004446.3(EPRS1):c.3261A>G (p.Leu1087=)	not provided [RCV003007673]	likely benign	1	219983228	219983228	Human		name
155932066	CV2156771	single nucleotide variant	NM_004446.3(EPRS1):c.3396A>G (p.Lys1132=)	not provided [RCV003013689]	likely benign	1	219981435	219981435	Human		name
156026452	CV2185607	single nucleotide variant	NM_004446.3(EPRS1):c.3060A>G (p.Lys1020=)	not provided [RCV003035987]	likely benign	1	219984236	219984236	Human		name
156402527	CV2191578	single nucleotide variant	NM_004446.3(EPRS1):c.907C>T (p.Arg303Cys)	not provided [RCV003052443]	uncertain significance	1	220024300	220024300	Human		name
401740962	CV2702716	single nucleotide variant	NM_004446.3(EPRS1):c.676G>A (p.Val226Ile)	Inborn genetic diseases [RCV003292491]	uncertain significance	1	220025206	220025206	Human	1	name
401940287	CV2832536	single nucleotide variant	NM_004446.3(EPRS1):c.641A>G (p.His214Arg)	Leukodystrophy, hypomyelinating, 15 [RCV003448516]	uncertain significance	1	220025241	220025241	Human	1	name
401940288	CV2832537	single nucleotide variant	NM_004446.3(EPRS1):c.619A>T (p.Ser207Cys)	Leukodystrophy, hypomyelinating, 15 [RCV003448517]	uncertain significance	1	220030390	220030390	Human	1	name
402485642	CV3002098	single nucleotide variant	NM_004446.3(EPRS1):c.3942A>C (p.Ala1314=)	not provided [RCV003686948]	likely benign	1	219978687	219978687	Human		name
404982810	CV3121437	single nucleotide variant	NM_004446.3(EPRS1):c.4149A>G (p.Arg1383=)	not provided [RCV003826236]	likely benign	1	219973333	219973333	Human		name
402517863	CV3135875	single nucleotide variant	NM_004446.3(EPRS1):c.4299T>C (p.Phe1433=)	not provided [RCV003824501]	likely benign	1	219972093	219972093	Human		name
405074760	CV3156101	single nucleotide variant	NM_004446.3(EPRS1):c.349T>A (p.Leu117Met)	not provided [RCV003851159]	uncertain significance	1	220033541	220033541	Human		name
405722918	CV3249225	single nucleotide variant	NM_004446.3(EPRS1):c.460C>T (p.Leu154Phe)	Inborn genetic diseases [RCV004378230]	uncertain significance	1	220032455	220032455	Human	1	name
405722941	CV3249228	single nucleotide variant	NM_004446.3(EPRS1):c.634A>G (p.Ile212Val)	Inborn genetic diseases [RCV004378233]	uncertain significance	1	220025248	220025248	Human	1	name
405722948	CV3249229	single nucleotide variant	NM_004446.3(EPRS1):c.812A>G (p.Asp271Gly)	Inborn genetic diseases [RCV004378234]	uncertain significance	1	220024395	220024395	Human	1	name
405722955	CV3249230	single nucleotide variant	NM_004446.3(EPRS1):c.884C>A (p.Pro295His)	Inborn genetic diseases [RCV004378235]	uncertain significance	1	220024323	220024323	Human	1	name
407479205	CV3431816	single nucleotide variant	NM_004446.3(EPRS1):c.721C>G (p.Pro241Ala)	Inborn genetic diseases [RCV004617716]	uncertain significance	1	220025161	220025161	Human	1	name
408381118	CV3501821	single nucleotide variant	NM_004446.3(EPRS1):c.578C>T (p.Ala193Val)	not provided [RCV004729349]	uncertain significance	1	220030431	220030431	Human		name
597675939	CV3671276	single nucleotide variant	NM_004446.3(EPRS1):c.871G>A (p.Val291Met)	Inborn genetic diseases [RCV004981991]	uncertain significance	1	220024336	220024336	Human	1	name
597935906	CV3807558	single nucleotide variant	NM_004446.3(EPRS1):c.4458C>G (p.Leu1486=)	not provided [RCV005157936]	likely benign	1	219968887	219968887	Human		name
598169667	CV3965482	single nucleotide variant	NM_004446.3(EPRS1):c.814C>T (p.His272Tyr)	Inborn genetic diseases [RCV005330490]	uncertain significance	1	220024393	220024393	Human	1	name
126739670	CV1015654	single nucleotide variant	NM_004446.3(EPRS1):c.2789T>C (p.Ile930Thr)	Leukodystrophy, hypomyelinating, 15 [RCV001329253]	uncertain significance	1	219987391	219987391	Human	1	name
126739666	CV1015655	single nucleotide variant	NM_004446.3(EPRS1):c.2702C>T (p.Ala901Val)	Leukodystrophy, hypomyelinating, 15 [RCV001329252]\|not provided [RCV002546310]	uncertain significance	1	219988663	219988663	Human	1	name
126739661	CV1015656	single nucleotide variant	NM_004446.3(EPRS1):c.2372A>G (p.Tyr791Cys)	Leukodystrophy, hypomyelinating, 15 [RCV001329251]	uncertain significance	1	219997152	219997152	Human	1	name
127278752	CV1066982	single nucleotide variant	NM_004446.3(EPRS1):c.2677C>A (p.Pro893Thr)	not provided [RCV001408672]	likely benign\|conflicting interpretations of pathogenicity	1	219988688	219988688	Human		name
127300923	CV1153495	single nucleotide variant	NM_004446.3(EPRS1):c.2738A>G (p.Glu913Gly)	not provided [RCV001514445]	benign	1	219988627	219988627	Human		name
127294384	CV1153500	single nucleotide variant	NM_004446.3(EPRS1):c.1256A>G (p.Tyr419Cys)	not provided [RCV001511726]	benign	1	220020081	220020081	Human		name
151349462	CV1325395	single nucleotide variant	NM_004446.3(EPRS1):c.1745A>G (p.Asn582Ser)	not provided [RCV001814680]	uncertain significance	1	220006311	220006311	Human		name
152984083	CV1672817	single nucleotide variant	NM_004446.3(EPRS1):c.2927A>G (p.Asn976Ser)	Inborn genetic diseases [RCV004973367]\|not provided [RCV002238437]	uncertain significance	1	219987253	219987253	Human	1	name
152984899	CV1672820	single nucleotide variant	NM_004446.3(EPRS1):c.2797C>G (p.Gln933Glu)	Inborn genetic diseases [RCV004047319]\|not provided [RCV002239504]	uncertain significance	1	219987383	219987383	Human	1	name
152984901	CV1672828	single nucleotide variant	NM_004446.3(EPRS1):c.2747G>A (p.Arg916Gln)	Leukodystrophy, hypomyelinating, 15 [RCV002471261]\|not provided [RCV002239506]	conflicting interpretations of pathogenicity\|uncertain significance	1	219988618	219988618	Human	1	name
152984102	CV1672842	single nucleotide variant	NM_004446.3(EPRS1):c.2648C>T (p.Ser883Leu)	not provided [RCV002238456]	uncertain significance	1	219988717	219988717	Human		name
152984104	CV1672848	single nucleotide variant	NM_004446.3(EPRS1):c.2584G>C (p.Ala862Pro)	not provided [RCV002238458]	likely benign	1	219988781	219988781	Human		name
152984107	CV1672851	single nucleotide variant	NM_004446.3(EPRS1):c.2425G>A (p.Gly809Arg)	not provided [RCV002238461]	uncertain significance	1	219997099	219997099	Human		name
152984109	CV1672853	single nucleotide variant	NM_004446.3(EPRS1):c.2405G>T (p.Gly802Val)	not provided [RCV002238463]	uncertain significance	1	219997119	219997119	Human		name
152984110	CV1672854	single nucleotide variant	NM_004446.3(EPRS1):c.2387G>T (p.Gly796Val)	not provided [RCV002238464]	uncertain significance	1	219997137	219997137	Human		name
152984909	CV1672856	single nucleotide variant	NM_004446.3(EPRS1):c.2317C>A (p.Pro773Thr)	not provided [RCV002239514]	uncertain significance	1	219997207	219997207	Human		name
152984115	CV1672861	single nucleotide variant	NM_004446.3(EPRS1):c.2229T>G (p.Asn743Lys)	not provided [RCV002238469]	uncertain significance	1	219997295	219997295	Human		name
152984117	CV1672863	single nucleotide variant	NM_004446.3(EPRS1):c.2228A>G (p.Asn743Ser)	not provided [RCV002238471]	uncertain significance	1	219997296	219997296	Human		name
152984910	CV1672866	single nucleotide variant	NM_004446.3(EPRS1):c.2210C>T (p.Thr737Ile)	not provided [RCV002239515]	uncertain significance	1	219997314	219997314	Human		name
152984125	CV1672874	single nucleotide variant	NM_004446.3(EPRS1):c.2141G>A (p.Gly714Glu)	Inborn genetic diseases [RCV004973368]\|not provided [RCV002238479]	uncertain significance	1	220001178	220001178	Human	1	name
152984126	CV1672875	single nucleotide variant	NM_004446.3(EPRS1):c.2135C>T (p.Thr712Ile)	Inborn genetic diseases [RCV004047323]\|not provided [RCV002238480]	uncertain significance	1	220001184	220001184	Human	1	name
152984129	CV1672878	single nucleotide variant	NM_004446.3(EPRS1):c.2003A>G (p.Asp668Gly)	not provided [RCV002238483]	uncertain significance	1	220005308	220005308	Human		name
152984130	CV1672879	single nucleotide variant	NM_004446.3(EPRS1):c.1940A>G (p.Lys647Arg)	Inborn genetic diseases [RCV004047324]\|not provided [RCV002238484]	uncertain significance	1	220006116	220006116	Human	1	name
152984914	CV1672882	single nucleotide variant	NM_004446.3(EPRS1):c.1819G>C (p.Val607Leu)	not provided [RCV002239519]	uncertain significance	1	220006237	220006237	Human		name
152984133	CV1672886	single nucleotide variant	NM_004446.3(EPRS1):c.1637A>G (p.Tyr546Cys)	Inborn genetic diseases [RCV004047325]\|not provided [RCV002238487]	uncertain significance	1	220007307	220007307	Human	1	name
152984139	CV1672892	single nucleotide variant	NM_004446.3(EPRS1):c.1328A>G (p.Asn443Ser)	Inborn genetic diseases [RCV004973369]\|not provided [RCV002238493]	uncertain significance	1	220020009	220020009	Human	1	name
152984141	CV1672894	single nucleotide variant	NM_004446.3(EPRS1):c.1134T>A (p.Asp378Glu)	not provided [RCV002238495]	uncertain significance	1	220020203	220020203	Human		name
152984917	CV1672897	single nucleotide variant	NM_004446.3(EPRS1):c.1084C>G (p.Gln362Glu)	not provided [RCV002239522]	uncertain significance	1	220022378	220022378	Human		name
152999685	CV1683256	single nucleotide variant	NM_004446.3(EPRS1):c.2950G>A (p.Gly984Ser)	See cases [RCV002252440]	likely benign	1	219987230	219987230	Human		name
156435656	CV1695399	single nucleotide variant	NM_004446.3(EPRS1):c.1459A>G (p.Met487Val)	Intellectual disability [RCV003126216]	pathogenic	1	220018484	220018484	Human	2	name
156377252	CV1878782	single nucleotide variant	NM_004446.3(EPRS1):c.2606G>T (p.Gly869Val)	Inborn genetic diseases [RCV004617164]\|not provided [RCV003066844]	uncertain significance	1	219988759	219988759	Human	1	name
156417397	CV1909660	single nucleotide variant	NM_004446.3(EPRS1):c.1726A>C (p.Ile576Leu)	Inborn genetic diseases [RCV004068960]\|not provided [RCV002610695]	uncertain significance	1	220007218	220007218	Human	1	name
156418366	CV1911010	single nucleotide variant	NM_004446.3(EPRS1):c.1549C>A (p.Pro517Thr)	not provided [RCV002611551]	likely benign	1	220011002	220011002	Human		name
155960699	CV1912108	single nucleotide variant	NM_004446.3(EPRS1):c.1033A>G (p.Ser345Gly)	not provided [RCV002616718]	uncertain significance	1	220022429	220022429	Human		name
156407672	CV1915035	single nucleotide variant	NM_004446.3(EPRS1):c.1840A>G (p.Thr614Ala)	not provided [RCV002606966]	uncertain significance	1	220006216	220006216	Human		name
156295287	CV1923062	single nucleotide variant	NM_004446.3(EPRS1):c.2140G>T (p.Gly714Trp)	not provided [RCV002647376]	uncertain significance	1	220001179	220001179	Human		name
156447042	CV1944674	single nucleotide variant	NM_004446.3(EPRS1):c.2747G>C (p.Arg916Pro)	not provided [RCV003118568]	uncertain significance	1	219988618	219988618	Human		name
156445190	CV1945187	single nucleotide variant	NM_004446.3(EPRS1):c.2293C>T (p.Arg765Cys)	Inborn genetic diseases [RCV003162170]\|not provided [RCV003116128]	uncertain significance	1	219997231	219997231	Human	1	name
156384228	CV1971752	single nucleotide variant	NM_004446.3(EPRS1):c.2548A>T (p.Ile850Leu)	Inborn genetic diseases [RCV004065742]\|not provided [RCV002604185]	uncertain significance	1	219988817	219988817	Human	1	name
156403500	CV1989476	single nucleotide variant	NM_004446.3(EPRS1):c.1744A>G (p.Asn582Asp)	Inborn genetic diseases [RCV005333299]\|not provided [RCV002657859]	uncertain significance	1	220006312	220006312	Human	1	name
156390576	CV1996228	single nucleotide variant	NM_004446.3(EPRS1):c.2405G>A (p.Gly802Glu)	Inborn genetic diseases [RCV003167610]\|not provided [RCV002654339]	uncertain significance	1	219997119	219997119	Human	1	name
156288724	CV1998032	single nucleotide variant	NM_004446.3(EPRS1):c.1189A>G (p.Thr397Ala)	Inborn genetic diseases [RCV004973544]\|not provided [RCV002647108]	uncertain significance	1	220020148	220020148	Human	1	name
156384040	CV2001548	single nucleotide variant	NM_004446.3(EPRS1):c.1126A>G (p.Thr376Ala)	not provided [RCV002653861]	uncertain significance	1	220020211	220020211	Human		name
156056755	CV2003497	single nucleotide variant	NM_004446.3(EPRS1):c.1655T>C (p.Ile552Thr)	not provided [RCV002659548]	uncertain significance	1	220007289	220007289	Human		name
156173786	CV2016278	single nucleotide variant	NM_004446.3(EPRS1):c.2881A>G (p.Lys961Glu)	not provided [RCV002710563]	uncertain significance	1	219987299	219987299	Human		name
156018837	CV2120758	single nucleotide variant	NM_004446.3(EPRS1):c.1724A>G (p.Asn575Ser)	not provided [RCV002976047]	uncertain significance	1	220007220	220007220	Human		name
156000153	CV2122819	single nucleotide variant	NM_004446.3(EPRS1):c.2279A>G (p.Gln760Arg)	not provided [RCV002975144]	uncertain significance	1	219997245	219997245	Human		name
156145119	CV2134440	single nucleotide variant	NM_004446.3(EPRS1):c.1912G>A (p.Asp638Asn)	Inborn genetic diseases [RCV004978421]\|not provided [RCV002982453]	uncertain significance	1	220006144	220006144	Human	1	name
156184650	CV2152075	single nucleotide variant	NM_004446.3(EPRS1):c.2338G>T (p.Ala780Ser)	not provided [RCV003005816]	uncertain significance	1	219997186	219997186	Human		name
156155007	CV2190777	single nucleotide variant	NM_004446.3(EPRS1):c.2552A>G (p.Asn851Ser)	not provided [RCV003040500]	uncertain significance	1	219988813	219988813	Human		name
243059054	CV2409929	single nucleotide variant	NM_004446.3(EPRS1):c.2929A>G (p.Lys977Glu)	Leukodystrophy, hypomyelinating, 15 [RCV003147103]	uncertain significance	1	219987251	219987251	Human	1	name
243051101	CV2415651	single nucleotide variant	NM_004446.3(EPRS1):c.1399A>G (p.Thr467Ala)	Leukodystrophy, hypomyelinating, 15 [RCV003148252]	uncertain significance	1	220019030	220019030	Human	1	name
329396177	CV2451939	single nucleotide variant	NM_004446.3(EPRS1):c.2314G>C (p.Ala772Pro)	Inborn genetic diseases [RCV003194829]	uncertain significance	1	219997210	219997210	Human	1	name
329371957	CV2455009	single nucleotide variant	NM_004446.3(EPRS1):c.2430G>C (p.Gln810His)	Inborn genetic diseases [RCV003209961]	uncertain significance	1	219997094	219997094	Human	1	name
329383091	CV2465525	single nucleotide variant	NM_004446.3(EPRS1):c.2611G>A (p.Glu871Lys)	Inborn genetic diseases [RCV003213645]	uncertain significance	1	219988754	219988754	Human	1	name
401766811	CV2721331	single nucleotide variant	NM_004446.3(EPRS1):c.2472A>C (p.Lys824Asn)	Inborn genetic diseases [RCV003282678]	uncertain significance	1	219997052	219997052	Human	1	name
401865401	CV2757465	single nucleotide variant	NM_004446.3(EPRS1):c.1783A>G (p.Asn595Asp)	Inborn genetic diseases [RCV003344529]	uncertain significance	1	220006273	220006273	Human	1	name
405214362	CV2925155	single nucleotide variant	NM_004446.3(EPRS1):c.1878T>G (p.Tyr626Ter)	not provided [RCV003567593]	pathogenic	1	220006178	220006178	Human		name
405228388	CV2980727	single nucleotide variant	NM_004446.3(EPRS1):c.1124C>T (p.Pro375Leu)	not provided [RCV003711097]	uncertain significance	1	220020213	220020213	Human		name
405174342	CV3023443	single nucleotide variant	NM_004446.3(EPRS1):c.2953C>T (p.Gln985Ter)	not provided [RCV003704961]	pathogenic	1	219987227	219987227	Human		name
405233633	CV3145095	single nucleotide variant	NM_004446.3(EPRS1):c.1445G>A (p.Arg482His)	Inborn genetic diseases [RCV004369460]\|not provided [RCV003853352]	uncertain significance	1	220018498	220018498	Human	1	name
405722696	CV3249194	single nucleotide variant	NM_004446.3(EPRS1):c.1211A>G (p.Glu404Gly)	Inborn genetic diseases [RCV004378199]	uncertain significance	1	220020126	220020126	Human	1	name
405722703	CV3249195	single nucleotide variant	NM_004446.3(EPRS1):c.1333G>A (p.Gly445Arg)	Inborn genetic diseases [RCV004378200]	uncertain significance	1	220020004	220020004	Human	1	name
405722711	CV3249196	single nucleotide variant	NM_004446.3(EPRS1):c.1370C>T (p.Thr457Met)	Inborn genetic diseases [RCV004378201]	uncertain significance	1	220019059	220019059	Human	1	name
405722716	CV3249197	single nucleotide variant	NM_004446.3(EPRS1):c.1375C>T (p.Arg459Cys)	Inborn genetic diseases [RCV004378202]	uncertain significance	1	220019054	220019054	Human	1	name
405722724	CV3249198	single nucleotide variant	NM_004446.3(EPRS1):c.1384C>G (p.Leu462Val)	Inborn genetic diseases [RCV004378203]	uncertain significance	1	220019045	220019045	Human	1	name
405722732	CV3249199	single nucleotide variant	NM_004446.3(EPRS1):c.1543G>A (p.Val515Met)	Inborn genetic diseases [RCV004378204]	uncertain significance	1	220011008	220011008	Human	1	name
405722739	CV3249200	single nucleotide variant	NM_004446.3(EPRS1):c.1700C>T (p.Thr567Ile)	Inborn genetic diseases [RCV004378205]	uncertain significance	1	220007244	220007244	Human	1	name
405722746	CV3249201	single nucleotide variant	NM_004446.3(EPRS1):c.1719C>A (p.Asn573Lys)	Inborn genetic diseases [RCV004378206]	uncertain significance	1	220007225	220007225	Human	1	name
405722753	CV3249202	single nucleotide variant	NM_004446.3(EPRS1):c.1732A>G (p.Lys578Glu)	Inborn genetic diseases [RCV004378207]	uncertain significance	1	220007212	220007212	Human	1	name
405722761	CV3249203	single nucleotide variant	NM_004446.3(EPRS1):c.1910A>G (p.Lys637Arg)	Inborn genetic diseases [RCV004378208]	uncertain significance	1	220006146	220006146	Human	1	name
405722766	CV3249204	single nucleotide variant	NM_004446.3(EPRS1):c.2290G>T (p.Val764Phe)	Inborn genetic diseases [RCV004378209]	uncertain significance	1	219997234	219997234	Human	1	name
405722773	CV3249205	single nucleotide variant	NM_004446.3(EPRS1):c.2564A>G (p.Glu855Gly)	Inborn genetic diseases [RCV004378210]	uncertain significance	1	219988801	219988801	Human	1	name
405722781	CV3249206	single nucleotide variant	NM_004446.3(EPRS1):c.2632C>G (p.Pro878Ala)	Inborn genetic diseases [RCV004378211]	uncertain significance	1	219988733	219988733	Human	1	name
405722788	CV3249207	single nucleotide variant	NM_004446.3(EPRS1):c.2642A>G (p.Gln881Arg)	Inborn genetic diseases [RCV004378212]	uncertain significance	1	219988723	219988723	Human	1	name
405722793	CV3249208	single nucleotide variant	NM_004446.3(EPRS1):c.2807T>G (p.Leu936Arg)	Inborn genetic diseases [RCV004378213]	uncertain significance	1	219987373	219987373	Human	1	name
405722799	CV3249209	single nucleotide variant	NM_004446.3(EPRS1):c.2822A>C (p.Gln941Pro)	Inborn genetic diseases [RCV004378214]	uncertain significance	1	219987358	219987358	Human	1	name
405722806	CV3249210	single nucleotide variant	NM_004446.3(EPRS1):c.2861C>T (p.Ser954Leu)	Inborn genetic diseases [RCV004378215]	uncertain significance	1	219987319	219987319	Human	1	name
407479174	CV3431807	single nucleotide variant	NM_004446.3(EPRS1):c.2542G>C (p.Ala848Pro)	Inborn genetic diseases [RCV004617706]	uncertain significance	1	219988823	219988823	Human	1	name
407479186	CV3431810	single nucleotide variant	NM_004446.3(EPRS1):c.1912G>C (p.Asp638His)	Inborn genetic diseases [RCV004617710]	uncertain significance	1	220006144	220006144	Human	1	name
407479189	CV3431811	single nucleotide variant	NM_004446.3(EPRS1):c.2107C>T (p.Pro703Ser)	Inborn genetic diseases [RCV004617711]	uncertain significance	1	220001212	220001212	Human	1	name
407479195	CV3431813	single nucleotide variant	NM_004446.3(EPRS1):c.1762A>G (p.Ile588Val)	Inborn genetic diseases [RCV004617713]	likely benign	1	220006294	220006294	Human	1	name
407479197	CV3431814	single nucleotide variant	NM_004446.3(EPRS1):c.1352A>G (p.Asp451Gly)	Inborn genetic diseases [RCV004617714]	uncertain significance	1	220019077	220019077	Human	1	name
407479201	CV3431815	single nucleotide variant	NM_004446.3(EPRS1):c.1741A>G (p.Lys581Glu)	Inborn genetic diseases [RCV004617715]	uncertain significance	1	220007203	220007203	Human	1	name
597675913	CV3671271	single nucleotide variant	NM_004446.3(EPRS1):c.2785G>T (p.Asp929Tyr)	Inborn genetic diseases [RCV004981988]	uncertain significance	1	219987395	219987395	Human	1	name
597675920	CV3671272	single nucleotide variant	NM_004446.3(EPRS1):c.1751A>G (p.Asp584Gly)	Inborn genetic diseases [RCV004981989]	uncertain significance	1	220006305	220006305	Human	1	name
597675954	CV3671278	single nucleotide variant	NM_004446.3(EPRS1):c.1042A>G (p.Asn348Asp)	Inborn genetic diseases [RCV004981993]	uncertain significance	1	220022420	220022420	Human	1	name
597675961	CV3671279	single nucleotide variant	NM_004446.3(EPRS1):c.1280A>G (p.Asn427Ser)	Inborn genetic diseases [RCV004981994]	uncertain significance	1	220020057	220020057	Human	1	name
597675976	CV3671281	single nucleotide variant	NM_004446.3(EPRS1):c.1619G>C (p.Gly540Ala)	Inborn genetic diseases [RCV004981996]	uncertain significance	1	220007325	220007325	Human	1	name
597675987	CV3671283	single nucleotide variant	NM_004446.3(EPRS1):c.1802A>G (p.Tyr601Cys)	Inborn genetic diseases [RCV004981998]	uncertain significance	1	220006254	220006254	Human	1	name
597675996	CV3671284	single nucleotide variant	NM_004446.3(EPRS1):c.1060C>T (p.Pro354Ser)	Inborn genetic diseases [RCV004981999]	uncertain significance	1	220022402	220022402	Human	1	name
597676000	CV3671285	single nucleotide variant	NM_004446.3(EPRS1):c.2282G>C (p.Gly761Ala)	Inborn genetic diseases [RCV004982000]\|not provided [RCV005110226]	uncertain significance	1	219997242	219997242	Human	1	name
597676009	CV3671287	single nucleotide variant	NM_004446.3(EPRS1):c.2107C>G (p.Pro703Ala)	Inborn genetic diseases [RCV004982001]	uncertain significance	1	220001212	220001212	Human	1	name
597676018	CV3671288	single nucleotide variant	NM_004446.3(EPRS1):c.2479T>A (p.Tyr827Asn)	Inborn genetic diseases [RCV004982002]	uncertain significance	1	219997045	219997045	Human	1	name
597676025	CV3671289	single nucleotide variant	NM_004446.3(EPRS1):c.2423T>C (p.Ile808Thr)	Inborn genetic diseases [RCV004982003]	uncertain significance	1	219997101	219997101	Human	1	name
597830748	CV3743287	single nucleotide variant	NM_004446.3(EPRS1):c.1660G>A (p.Gly554Ser)	not provided [RCV005062295]	uncertain significance	1	220007284	220007284	Human		name
597949342	CV3818543	single nucleotide variant	NM_004446.3(EPRS1):c.2267G>A (p.Arg756Lys)	not provided [RCV005160804]	uncertain significance	1	219997257	219997257	Human		name
598169658	CV3965479	single nucleotide variant	NM_004446.3(EPRS1):c.2861C>G (p.Ser954Trp)	Inborn genetic diseases [RCV005330487]	uncertain significance	1	219987319	219987319	Human	1	name
598169661	CV3965480	single nucleotide variant	NM_004446.3(EPRS1):c.1928A>C (p.Gln643Pro)	Inborn genetic diseases [RCV005330488]	uncertain significance	1	220006128	220006128	Human	1	name
598169665	CV3965481	single nucleotide variant	NM_004446.3(EPRS1):c.2222A>G (p.Asn741Ser)	Inborn genetic diseases [RCV005330489]	uncertain significance	1	219997302	219997302	Human	1	name
598169670	CV3965483	single nucleotide variant	NM_004446.3(EPRS1):c.1273C>G (p.Arg425Gly)	Inborn genetic diseases [RCV005330491]	uncertain significance	1	220020064	220020064	Human	1	name
598169674	CV3965484	single nucleotide variant	NM_004446.3(EPRS1):c.2377G>A (p.Glu793Lys)	Inborn genetic diseases [RCV005330492]	uncertain significance	1	219997147	219997147	Human	1	name
598169676	CV3965485	single nucleotide variant	NM_004446.3(EPRS1):c.2036T>C (p.Ile679Thr)	Inborn genetic diseases [RCV005330493]	uncertain significance	1	220005275	220005275	Human	1	name
598169679	CV3965486	single nucleotide variant	NM_004446.3(EPRS1):c.2488G>A (p.Val830Ile)	Inborn genetic diseases [RCV005330494]	uncertain significance	1	219997036	219997036	Human	1	name
13607469	CV513760	single nucleotide variant	NM_004446.3(EPRS1):c.1015C>T (p.Arg339Ter)	Leukodystrophy, hypomyelinating, 15 [RCV000626407]	pathogenic	1	220022447	220022447	Human	1	name
13607458	CV513762	deletion	NM_004446.3(EPRS1):c.3667del (p.Thr1223fs)	Leukodystrophy, hypomyelinating, 15 [RCV000626409]	pathogenic	1	219980129	219980129	Human	1	name
21068776	CV788734	single nucleotide variant	NM_004446.3(EPRS1):c.2513G>A (p.Arg838His)	Inborn genetic diseases [RCV004030094]\|Leukodystrophy, hypomyelinating, 15 [RCV000984958]\|not provided [RCV002550585]	uncertain significance	1	219997011	219997011	Human	2	name
8629312	CV84457	single nucleotide variant	NM_004446.3(EPRS1):c.2746C>T (p.Arg916Trp)	Inborn genetic diseases [RCV004617709]	uncertain significance\|not provided	1	219988619	219988619	Human	1	name
28904602	CV858913	single nucleotide variant	NM_004446.3(EPRS1):c.1043A>G (p.Asn348Ser)	not provided [RCV001093209]	uncertain significance	1	220022419	220022419	Human		name
126739678	CV1015652	single nucleotide variant	NM_004446.3(EPRS1):c.3972T>G (p.Ile1324Met)	Inborn genetic diseases [RCV004035667]\|Leukodystrophy, hypomyelinating, 15 [RCV001329255]\|not provided [RCV002242178]	uncertain significance	1	219978657	219978657	Human	2	name
126729788	CV1019303	single nucleotide variant	NM_004446.3(EPRS1):c.3782T>C (p.Ile1261Thr)	Leukodystrophy, hypomyelinating, 15 [RCV001333246]	uncertain significance	1	219979545	219979545	Human	1	name
127312873	CV1153492	single nucleotide variant	NM_004446.3(EPRS1):c.3127A>G (p.Ile1043Val)	not provided [RCV001519092]	benign	1	219983362	219983362	Human		name
151350111	CV1325526	single nucleotide variant	NM_004446.3(EPRS1):c.3832C>T (p.Arg1278Ter)	Leukodystrophy, hypomyelinating, 15 [RCV001814812]\|not provided [RCV002541499]	pathogenic\|likely pathogenic\|uncertain significance	1	219979495	219979495	Human	1	name
152984037	CV1672755	single nucleotide variant	NM_004446.3(EPRS1):c.4439G>A (p.Cys1480Tyr)	not provided [RCV002238390]	uncertain significance	1	219968906	219968906	Human		name
152984040	CV1672758	single nucleotide variant	NM_004446.3(EPRS1):c.4250C>T (p.Ser1417Phe)	not provided [RCV002238393]	uncertain significance	1	219972142	219972142	Human		name
152984882	CV1672761	single nucleotide variant	NM_004446.3(EPRS1):c.4151G>A (p.Arg1384Gln)	not provided [RCV002239487]	uncertain significance	1	219973331	219973331	Human		name
152984885	CV1672764	single nucleotide variant	NM_004446.3(EPRS1):c.4033T>A (p.Leu1345Ile)	not provided [RCV002239490]	uncertain significance	1	219978596	219978596	Human		name
152984043	CV1672766	single nucleotide variant	NM_004446.3(EPRS1):c.4018C>T (p.Arg1340Cys)	not provided [RCV002238396]	uncertain significance	1	219978611	219978611	Human		name
152984044	CV1672767	single nucleotide variant	NM_004446.3(EPRS1):c.3806A>G (p.Tyr1269Cys)	not provided [RCV002238397]	likely benign	1	219979521	219979521	Human		name
152984045	CV1672768	single nucleotide variant	NM_004446.3(EPRS1):c.3781A>G (p.Ile1261Val)	not provided [RCV002238398]	uncertain significance	1	219979546	219979546	Human		name
152984046	CV1672769	single nucleotide variant	NM_004446.3(EPRS1):c.3776C>G (p.Pro1259Arg)	not provided [RCV002238399]	uncertain significance	1	219979551	219979551	Human		name
152984047	CV1672770	single nucleotide variant	NM_004446.3(EPRS1):c.3763G>A (p.Val1255Ile)	not provided [RCV002238400]	uncertain significance	1	219979564	219979564	Human		name
152984049	CV1672772	single nucleotide variant	NM_004446.3(EPRS1):c.3548C>T (p.Ala1183Val)	Inborn genetic diseases [RCV004047316]\|not provided [RCV002238402]	uncertain significance	1	219980763	219980763	Human	1	name
152984052	CV1672775	single nucleotide variant	NM_004446.3(EPRS1):c.3331G>A (p.Glu1111Lys)	not provided [RCV002238405]	uncertain significance	1	219982814	219982814	Human		name
152984055	CV1672781	single nucleotide variant	NM_004446.3(EPRS1):c.3188T>C (p.Phe1063Ser)	not provided [RCV002238408]	uncertain significance	1	219983301	219983301	Human		name
152984892	CV1672793	single nucleotide variant	NM_004446.3(EPRS1):c.3121C>T (p.His1041Tyr)	Inborn genetic diseases [RCV004047317]\|not provided [RCV002239497]	likely benign\|uncertain significance	1	219983368	219983368	Human	1	name
155800078	CV1862789	single nucleotide variant	NM_004446.3(EPRS1):c.3404A>C (p.Gln1135Pro)	Leukodystrophy, hypomyelinating, 15 [RCV002472196]	uncertain significance	1	219981427	219981427	Human	1	name
156413113	CV1887668	single nucleotide variant	NM_004446.3(EPRS1):c.3992G>A (p.Arg1331Gln)	not provided [RCV003073162]	uncertain significance	1	219978637	219978637	Human		name
155988944	CV1894164	single nucleotide variant	NM_004446.3(EPRS1):c.4456C>T (p.Leu1486Phe)	Inborn genetic diseases [RCV004071934]\|not provided [RCV003076022]	uncertain significance	1	219968889	219968889	Human	1	name
156416509	CV1901366	single nucleotide variant	NM_004446.3(EPRS1):c.4067A>G (p.Asn1356Ser)	Inborn genetic diseases [RCV003250779]\|Leukodystrophy, hypomyelinating, 15 [RCV003989805]\|not provided [RCV002610212]	uncertain significance	1	219978562	219978562	Human	2	name
156025419	CV1918640	single nucleotide variant	NM_004446.3(EPRS1):c.4528C>T (p.Arg1510Cys)	Inborn genetic diseases [RCV004070526]\|not provided [RCV002636917]	uncertain significance	1	219968817	219968817	Human	1	name
155932499	CV1919662	single nucleotide variant	NM_004446.3(EPRS1):c.4238T>G (p.Phe1413Cys)	not provided [RCV002615080]	uncertain significance	1	219973244	219973244	Human		name
156334195	CV1954318	single nucleotide variant	NM_004446.3(EPRS1):c.4529G>A (p.Arg1510His)	Inborn genetic diseases [RCV004973452]\|not provided [RCV002580163]	uncertain significance	1	219968816	219968816	Human	1	name
156336637	CV1988357	single nucleotide variant	NM_004446.3(EPRS1):c.3632C>T (p.Thr1211Met)	not provided [RCV002631217]	uncertain significance	1	219980164	219980164	Human		name
156072721	CV1989136	single nucleotide variant	NM_004446.3(EPRS1):c.3830C>T (p.Thr1277Ile)	not provided [RCV002638648]	uncertain significance	1	219979497	219979497	Human		name
156124313	CV1992846	single nucleotide variant	NM_004446.3(EPRS1):c.4206A>C (p.Gln1402His)	not provided [RCV002623065]	uncertain significance	1	219973276	219973276	Human		name
156332430	CV2000674	single nucleotide variant	NM_004446.3(EPRS1):c.3746C>T (p.Ser1249Phe)	not provided [RCV002649893]	uncertain significance	1	219979581	219979581	Human		name
156349698	CV2001128	single nucleotide variant	NM_004446.3(EPRS1):c.3974C>A (p.Ala1325Glu)	not provided [RCV002675503]	uncertain significance	1	219978655	219978655	Human		name
156135006	CV2022907	single nucleotide variant	NM_004446.3(EPRS1):c.4241C>A (p.Thr1414Lys)	not provided [RCV002740698]	uncertain significance	1	219973241	219973241	Human		name
156304339	CV2079692	single nucleotide variant	NM_004446.3(EPRS1):c.3229T>G (p.Tyr1077Asp)	not provided [RCV002857331]	uncertain significance	1	219983260	219983260	Human		name
156118048	CV2086668	single nucleotide variant	NM_004446.3(EPRS1):c.3856G>C (p.Val1286Leu)	not provided [RCV002871153]	uncertain significance	1	219979471	219979471	Human		name
156040298	CV2094089	single nucleotide variant	NM_004446.3(EPRS1):c.3775C>G (p.Pro1259Ala)	not provided [RCV002885786]	uncertain significance	1	219979552	219979552	Human		name
156258247	CV2102664	single nucleotide variant	NM_004446.3(EPRS1):c.4144G>A (p.Val1382Ile)	not provided [RCV002895487]	uncertain significance	1	219973338	219973338	Human		name
156018329	CV2121538	single nucleotide variant	NM_004446.3(EPRS1):c.4472C>T (p.Pro1491Leu)	not provided [RCV002948647]	uncertain significance	1	219968873	219968873	Human		name
155960025	CV2133749	single nucleotide variant	NM_004446.3(EPRS1):c.4019G>A (p.Arg1340His)	not provided [RCV003015417]	uncertain significance	1	219978610	219978610	Human		name
155964924	CV2142474	single nucleotide variant	NM_004446.3(EPRS1):c.4441A>G (p.Ile1481Val)	not provided [RCV002995335]	uncertain significance	1	219968904	219968904	Human		name
156185474	CV2152158	single nucleotide variant	NM_004446.3(EPRS1):c.3256G>A (p.Ala1086Thr)	not provided [RCV003005839]	uncertain significance	1	219983233	219983233	Human		name
156360728	CV2158771	single nucleotide variant	NM_004446.3(EPRS1):c.3662A>C (p.Tyr1221Ser)	not provided [RCV003031546]	uncertain significance	1	219980134	219980134	Human		name
156125957	CV2185636	single nucleotide variant	NM_004446.3(EPRS1):c.4292A>G (p.Glu1431Gly)	not provided [RCV003055652]	uncertain significance	1	219972100	219972100	Human		name
156399379	CV2187728	single nucleotide variant	NM_004446.3(EPRS1):c.3853A>G (p.Met1285Val)	not provided [RCV003052171]	uncertain significance	1	219979474	219979474	Human		name
243059052	CV2409928	single nucleotide variant	NM_004446.3(EPRS1):c.4361A>G (p.Glu1454Gly)	Leukodystrophy, hypomyelinating, 15 [RCV003147102]	uncertain significance	1	219969085	219969085	Human	1	name
401756331	CV2687094	single nucleotide variant	NM_004446.3(EPRS1):c.3109A>G (p.Met1037Val)	Inborn genetic diseases [RCV003255596]\|not provided [RCV004725702]	uncertain significance	1	219983380	219983380	Human	1	name
401733912	CV2713262	single nucleotide variant	NM_004446.3(EPRS1):c.4147A>G (p.Arg1383Gly)	Inborn genetic diseases [RCV003272465]\|not provided [RCV005061193]	uncertain significance	1	219973335	219973335	Human	1	name
401724365	CV2735710	single nucleotide variant	NM_004446.3(EPRS1):c.4015A>T (p.Ile1339Phe)	not provided [RCV003312153]	uncertain significance	1	219978614	219978614	Human		name
401875939	CV2777592	single nucleotide variant	NM_004446.3(EPRS1):c.4130G>A (p.Cys1377Tyr)	Inborn genetic diseases [RCV003347876]\|not provided [RCV005425141]	uncertain significance	1	219973352	219973352	Human	1	name
402474153	CV2919652	single nucleotide variant	NM_004446.3(EPRS1):c.3155G>A (p.Trp1052Ter)	not provided [RCV003571136]	pathogenic	1	219983334	219983334	Human		name
405228383	CV2980726	single nucleotide variant	NM_004446.3(EPRS1):c.3317G>C (p.Arg1106Thr)	not provided [RCV003711096]	uncertain significance	1	219982828	219982828	Human		name
402488713	CV2984341	single nucleotide variant	NM_004446.3(EPRS1):c.4058G>A (p.Trp1353Ter)	not provided [RCV003713561]	pathogenic	1	219978571	219978571	Human		name
405174252	CV3150533	single nucleotide variant	NM_004446.3(EPRS1):c.3161A>C (p.Tyr1054Ser)	Inborn genetic diseases [RCV004366949]\|not provided [RCV003841807]	uncertain significance	1	219983328	219983328	Human	1	name
405249554	CV3180163	single nucleotide variant	NM_004446.3(EPRS1):c.4047T>G (p.Tyr1349Ter)	not provided [RCV003869623]	pathogenic	1	219978582	219978582	Human		name
405281432	CV3224117	single nucleotide variant	NM_004446.3(EPRS1):c.3271A>G (p.Lys1091Glu)	not specified [RCV003988499]	uncertain significance	1	219983218	219983218	Human		name
405281434	CV3224119	single nucleotide variant	NM_004446.3(EPRS1):c.3586G>T (p.Val1196Leu)	not specified [RCV003988501]	uncertain significance	1	219980210	219980210	Human		name
405706941	CV3225239	single nucleotide variant	NM_004446.3(EPRS1):c.3289T>G (p.Phe1097Val)	Leukodystrophy, hypomyelinating, 15 [RCV003990293]	uncertain significance	1	219983200	219983200	Human	1	name
405692455	CV3227633	single nucleotide variant	NM_004446.3(EPRS1):c.3370A>G (p.Thr1124Ala)	Leukodystrophy, hypomyelinating, 15 [RCV003991979]	uncertain significance	1	219982775	219982775	Human	1	name
405688324	CV3228500	single nucleotide variant	NM_004446.3(EPRS1):c.4444C>A (p.Pro1482Thr)	Leukodystrophy, hypomyelinating, 15 [RCV004006233]	likely pathogenic	1	219968901	219968901	Human	1	name
405722823	CV3249212	single nucleotide variant	NM_004446.3(EPRS1):c.3055A>G (p.Lys1019Glu)	Inborn genetic diseases [RCV004378217]	uncertain significance	1	219984241	219984241	Human	1	name
405722836	CV3249214	single nucleotide variant	NM_004446.3(EPRS1):c.3352A>G (p.Ile1118Val)	Inborn genetic diseases [RCV004378219]	likely benign	1	219982793	219982793	Human	1	name
405722850	CV3249216	single nucleotide variant	NM_004446.3(EPRS1):c.3998G>A (p.Arg1333Gln)	Inborn genetic diseases [RCV004378221]	uncertain significance	1	219978631	219978631	Human	1	name
405722857	CV3249217	single nucleotide variant	NM_004446.3(EPRS1):c.4003C>T (p.Leu1335Phe)	Inborn genetic diseases [RCV004378222]	uncertain significance	1	219978626	219978626	Human	1	name
405722865	CV3249218	single nucleotide variant	NM_004446.3(EPRS1):c.4019G>T (p.Arg1340Leu)	Inborn genetic diseases [RCV004378223]	uncertain significance	1	219978610	219978610	Human	1	name
405722872	CV3249219	single nucleotide variant	NM_004446.3(EPRS1):c.4028C>A (p.Ala1343Asp)	Inborn genetic diseases [RCV004378224]	uncertain significance	1	219978601	219978601	Human	1	name
405722880	CV3249220	single nucleotide variant	NM_004446.3(EPRS1):c.4150C>T (p.Arg1384Ter)	Inborn genetic diseases [RCV004378225]	pathogenic	1	219973332	219973332	Human	1	name
405722894	CV3249222	single nucleotide variant	NM_004446.3(EPRS1):c.4414C>T (p.Pro1472Ser)	Inborn genetic diseases [RCV004378227]	uncertain significance	1	219968931	219968931	Human	1	name
405722903	CV3249223	single nucleotide variant	NM_004446.3(EPRS1):c.4519T>A (p.Leu1507Ile)	Inborn genetic diseases [RCV004378228]	uncertain significance	1	219968826	219968826	Human	1	name
407479178	CV3431808	single nucleotide variant	NM_004446.3(EPRS1):c.3283G>T (p.Ala1095Ser)	Inborn genetic diseases [RCV004617707]	uncertain significance	1	219983206	219983206	Human	1	name
407479192	CV3431812	single nucleotide variant	NM_004446.3(EPRS1):c.4470G>T (p.Gln1490His)	Inborn genetic diseases [RCV004617712]	uncertain significance	1	219968875	219968875	Human	1	name
408381425	CV3523863	single nucleotide variant	NM_004446.3(EPRS1):c.3797A>G (p.Gln1266Arg)	not provided [RCV004766261]	uncertain significance	1	219979530	219979530	Human		name
597675928	CV3671275	single nucleotide variant	NM_004446.3(EPRS1):c.4115G>A (p.Arg1372His)	Inborn genetic diseases [RCV004981990]	uncertain significance	1	219973367	219973367	Human	1	name
597675968	CV3671280	single nucleotide variant	NM_004446.3(EPRS1):c.3296C>G (p.Pro1099Arg)	Inborn genetic diseases [RCV004981995]	uncertain significance	1	219983193	219983193	Human	1	name
597913169	CV3740460	single nucleotide variant	NM_004446.3(EPRS1):c.3149G>A (p.Arg1050His)	not provided [RCV005073797]	uncertain significance	1	219983340	219983340	Human		name
597924922	CV3863378	single nucleotide variant	NM_004446.3(EPRS1):c.4201C>T (p.Leu1401Phe)	not provided [RCV005205702]	uncertain significance	1	219973281	219973281	Human		name
13607468	CV513759	single nucleotide variant	NM_004446.3(EPRS1):c.3344C>G (p.Pro1115Arg)	Leukodystrophy, hypomyelinating, 15 [RCV000626406]\|not provided [RCV002533152]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	219982801	219982801	Human	1	name
13607411	CV513761	single nucleotide variant	NM_004446.3(EPRS1):c.3478C>T (p.Pro1160Ser)	Leukodystrophy, hypomyelinating, 15 [RCV000626408]	pathogenic	1	219980833	219980833	Human	1	name
13607413	CV513763	single nucleotide variant	NM_004446.3(EPRS1):c.3377T>C (p.Met1126Thr)	Leukodystrophy, hypomyelinating, 15 [RCV000626410]	pathogenic	1	219981454	219981454	Human	1	name
21069727	CV789345	single nucleotide variant	NM_004446.3(EPRS1):c.3148C>T (p.Arg1050Cys)	Leukodystrophy, hypomyelinating, 15 [RCV000984871]\|not provided [RCV002549632]	uncertain significance	1	219983341	219983341	Human	1	name
21069728	CV789346	single nucleotide variant	NM_004446.3(EPRS1):c.3344C>T (p.Pro1115Leu)	Leukodystrophy, hypomyelinating, 15 [RCV000984872]	uncertain significance	1	219982801	219982801	Human	1	name
28904586	CV858912	single nucleotide variant	NM_004446.3(EPRS1):c.4309C>G (p.Leu1437Val)	Inborn genetic diseases [RCV004978007]\|not provided [RCV001093208]	uncertain significance	1	219972083	219972083	Human	1	name
152984084	CV1672818	deletion	NM_004446.3(EPRS1):c.2905_2908del (p.Glu969fs)	not provided [RCV002238438]	pathogenic\|uncertain significance	1	219987272	219987275	Human		name
155939395	CV2146550	indel	NM_004446.3(EPRS1):c.2716_2717delinsT (p.Asp906fs)	not provided [RCV003014164]	pathogenic\|uncertain significance	1	219988648	219988649	Human		name
407572721	CV3497210	deletion	NM_004446.3(EPRS1):c.667_675del (p.His223_Gln225del)	not provided [RCV004699030]	uncertain significance	1	220025207	220025215	Human		name
152984039	CV1672757	indel	NM_004446.3(EPRS1):c.4300_4301delinsTT (p.Gln1434Leu)	not provided [RCV002238392]	uncertain significance	1	219972091	219972092	Human		name
152984896	CV1672807	indel	NM_004446.3(EPRS1):c.3014_3015delinsTA (p.Gly1005Val)	not provided [RCV002239501]	uncertain significance	1	219987165	219987166	Human		name
405083063	CV2864929	deletion	NM_004446.3(EPRS1):c.3318_3329del (p.Arg1106_Thr1110delinsSer)	not provided [RCV003549325]	uncertain significance	1	219982816	219982827	Human		name

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