Eif2b4 Variant Search Result - Rat Genome Database

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464 records found for search term Eif2b4

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8630288	CV85443	single nucleotide variant	EIF2B4:c.-967G>A	Malignant melanoma [RCV000065526]	not provided	2	27371281	27371281	Human		name
28893095	CV884583	single nucleotide variant	NM_015636.3(EIF2B4):c.-43G>A	Vanishing white matter disease [RCV001140005]	uncertain significance	2	27370357	27370357	Human	2	name
28893099	CV884584	single nucleotide variant	NM_015636.3(EIF2B4):c.-90G>T	Vanishing white matter disease [RCV001140006]	uncertain significance	2	27370404	27370404	Human	2	name
28893102	CV884585	single nucleotide variant	NM_015636.3(EIF2B4):c.-116G>C	Vanishing white matter disease [RCV001140007]	uncertain significance	2	27370430	27370430	Human	2	name
11594644	CV285828	single nucleotide variant	NM_001034116.2(EIF2B4):c.*1C>T	EIF2B4-related disorder [RCV003972419]\|Vanishing white matter disease [RCV000361335]\|not provided [RCV004708587]	benign\|uncertain significance	2	27364399	27364399	Human	3	name , trait , alternate_id
28893091	CV884582	single nucleotide variant	NM_001034116.2(EIF2B4):c.-2C>T	Vanishing white matter disease [RCV001140004]	uncertain significance	2	27370316	27370316	Human	2	name
11590577	CV286563	single nucleotide variant	NM_001034116.2(EIF2B4):c.*39C>T	Vanishing white matter disease [RCV000320634]	uncertain significance	2	27364361	27364361	Human	2	name
8642651	CV101635	single nucleotide variant	NM_001034116.2(EIF2B4):c.76-7G>A	Vanishing white matter disease [RCV000320226]\|not provided [RCV000711606]\|not specified [RCV000081780]	benign	2	27369556	27369556	Human	2	name
153305696	CV1688743	single nucleotide variant	NM_001034116.2(EIF2B4):c.32-1G>T	Vanishing white matter disease [RCV002266482]\|not provided [RCV003774846]	likely pathogenic	2	27369920	27369920	Human	2	name
402473900	CV2919560	single nucleotide variant	NM_001034116.2(EIF2B4):c.31+1G>A	not provided [RCV003571094]	likely pathogenic	2	27370283	27370283	Human		name
405157393	CV2960997	single nucleotide variant	NM_001034116.2(EIF2B4):c.32-9C>T	not provided [RCV003670485]	likely benign	2	27369928	27369928	Human		name
405174115	CV3026889	single nucleotide variant	NM_001034116.2(EIF2B4):c.32-6A>G	not provided [RCV003704890]	likely benign	2	27369925	27369925	Human		name
405219236	CV3045835	single nucleotide variant	NM_001034116.2(EIF2B4):c.32-9C>G	not provided [RCV003733047]	likely benign	2	27369928	27369928	Human		name
405168488	CV3122326	single nucleotide variant	NM_001034116.2(EIF2B4):c.76-5C>G	not provided [RCV003818915]	likely benign	2	27369554	27369554	Human		name
405016337	CV3139088	single nucleotide variant	NM_001034116.2(EIF2B4):c.31+7G>A	not provided [RCV003829425]	likely benign	2	27370277	27370277	Human		name
405046937	CV3150674	single nucleotide variant	NM_001034116.2(EIF2B4):c.32-7G>A	not provided [RCV003849277]	likely benign	2	27369926	27369926	Human		name
126726430	CV1016056	single nucleotide variant	NM_001034116.2(EIF2B4):c.32-55C>T	Vanishing white matter disease [RCV001331965]	uncertain significance	2	27369974	27369974	Human	2	name
152045588	CV1561277	single nucleotide variant	NM_001034116.2(EIF2B4):c.885+8G>C	not provided [RCV002108306]	likely benign	2	27367449	27367449	Human		name
156320259	CV1896784	single nucleotide variant	NM_001034116.2(EIF2B4):c.706-3T>C	not provided [RCV003088958]	uncertain significance	2	27367825	27367825	Human		name
156295229	CV2153044	single nucleotide variant	NM_001034116.2(EIF2B4):c.498+4G>C	not provided [RCV003010134]	uncertain significance	2	27368650	27368650	Human		name
11546957	CV250714	single nucleotide variant	NM_001034116.2(EIF2B4):c.32-40A>C	not specified [RCV000247136]	likely benign	2	27369959	27369959	Human		name
405128961	CV2894902	single nucleotide variant	NM_001034116.2(EIF2B4):c.76-20A>C	not provided [RCV003559852]	likely benign	2	27369569	27369569	Human		name
402502422	CV2923185	single nucleotide variant	NM_001034116.2(EIF2B4):c.32-14G>A	not provided [RCV003573988]	likely benign	2	27369933	27369933	Human		name
405100568	CV2947972	single nucleotide variant	NM_001034116.2(EIF2B4):c.32-17C>T	not provided [RCV003666016]	likely benign	2	27369936	27369936	Human		name
405229929	CV2964253	single nucleotide variant	NM_001034116.2(EIF2B4):c.499-6G>C	not provided [RCV003682081]	likely benign	2	27368469	27368469	Human		name
405236856	CV2973372	single nucleotide variant	NM_001034116.2(EIF2B4):c.31+14C>T	not provided [RCV003683122]	likely benign	2	27370270	27370270	Human		name
405232146	CV2974703	single nucleotide variant	NM_001034116.2(EIF2B4):c.782+7A>G	not provided [RCV003682439]	likely benign	2	27367739	27367739	Human		name
405254823	CV2988869	single nucleotide variant	NM_001034116.2(EIF2B4):c.32-14G>C	not provided [RCV003723187]	likely benign	2	27369933	27369933	Human		name
405172365	CV3026644	single nucleotide variant	NM_001034116.2(EIF2B4):c.706-8C>A	not provided [RCV003704786]	likely benign	2	27367830	27367830	Human		name
405061783	CV3030121	single nucleotide variant	NM_001034116.2(EIF2B4):c.76-11C>A	not provided [RCV003697737]	likely benign	2	27369560	27369560	Human		name
405219014	CV3034832	single nucleotide variant	NM_001034116.2(EIF2B4):c.75+20C>T	not provided [RCV003709594]	likely benign	2	27369856	27369856	Human		name
405219362	CV3035062	single nucleotide variant	NM_001034116.2(EIF2B4):c.418+9C>T	not provided [RCV003709740]	likely benign	2	27368997	27368997	Human		name
402501350	CV3035449	single nucleotide variant	NM_001034116.2(EIF2B4):c.706-8C>T	not provided [RCV003714771]	likely benign	2	27367830	27367830	Human		name
405040310	CV3063884	single nucleotide variant	NM_001034116.2(EIF2B4):c.783-7A>G	not provided [RCV003739865]	likely benign	2	27367566	27367566	Human		name
404984169	CV3121687	single nucleotide variant	NM_001034116.2(EIF2B4):c.31+17G>A	not provided [RCV003826486]	likely benign	2	27370267	27370267	Human		name
405114206	CV3133848	single nucleotide variant	NM_001034116.2(EIF2B4):c.31+13C>T	not provided [RCV003836643]	likely benign	2	27370271	27370271	Human		name
405095641	CV3135012	single nucleotide variant	NM_001034116.2(EIF2B4):c.499-4C>T	not provided [RCV003835164]	likely benign	2	27368467	27368467	Human		name
405088998	CV3138160	single nucleotide variant	NM_001034116.2(EIF2B4):c.705+8C>A	not provided [RCV003834678]	likely benign	2	27368017	27368017	Human		name
405139863	CV3155092	single nucleotide variant	NM_001034116.2(EIF2B4):c.31+12G>A	not provided [RCV003855330]	likely benign	2	27370272	27370272	Human		name
405231374	CV3157301	single nucleotide variant	NM_001034116.2(EIF2B4):c.419-7C>G	not provided [RCV003865251]	likely benign	2	27368740	27368740	Human		name
405224678	CV3158822	single nucleotide variant	NM_001034116.2(EIF2B4):c.706-4A>T	not provided [RCV003864124]	likely benign	2	27367826	27367826	Human		name
405205759	CV3165720	single nucleotide variant	NM_001034116.2(EIF2B4):c.76-17C>T	not provided [RCV003861386]	likely benign	2	27369566	27369566	Human		name
405276718	CV3207757	single nucleotide variant	NM_001034116.2(EIF2B4):c.32-86C>A	EIF2B4-related disorder [RCV003917262]	likely benign	2	27370005	27370005	Human		name , trait , alternate_id
597836178	CV3828378	single nucleotide variant	NM_001034116.2(EIF2B4):c.782+2T>C	not provided [RCV005171270]	likely pathogenic	2	27367744	27367744	Human		name
597838739	CV3828928	single nucleotide variant	NM_001034116.2(EIF2B4):c.31+15G>A	not provided [RCV005171621]	likely benign	2	27370269	27370269	Human		name
15143314	CV787278	single nucleotide variant	NM_001034116.2(EIF2B4):c.705+7C>T	not provided [RCV000983307]	likely benign	2	27368018	27368018	Human		name
8642649	CV101633	single nucleotide variant	NM_001034116.2(EIF2B4):c.1014-7A>G	Vanishing white matter disease [RCV000296534]\|not provided [RCV000711605]\|not specified [RCV000081778]	benign	2	27366943	27366943	Human	2	name
150337709	CV1170950	single nucleotide variant	NM_001034116.2(EIF2B4):c.419-73C>T	not provided [RCV001541813]	benign	2	27368806	27368806	Human		name
150460137	CV1231290	single nucleotide variant	NM_001034116.2(EIF2B4):c.418+69A>G	not provided [RCV001640854]	benign	2	27368937	27368937	Human	41	name
150460137	CV1231290	single nucleotide variant	NM_001034116.2(EIF2B4):c.418+69A>G	not provided [RCV001640854]	benign	2	27368937	27368938	Human	41	name
151888643	CV1512921	single nucleotide variant	NM_001034116.2(EIF2B4):c.419-19C>G	not provided [RCV001888008]	likely benign\|uncertain significance	2	27368752	27368752	Human		name
152166350	CV1524336	single nucleotide variant	NM_001034116.2(EIF2B4):c.418+13C>T	not provided [RCV002141907]	likely benign	2	27368993	27368993	Human		name
152065364	CV1525959	single nucleotide variant	NM_001034116.2(EIF2B4):c.499-16C>T	not provided [RCV002128898]	likely benign	2	27368479	27368479	Human		name
152106688	CV1527413	single nucleotide variant	NM_001034116.2(EIF2B4):c.591-16A>G	not provided [RCV002079701]	likely benign	2	27368155	27368155	Human		name
152059843	CV1539356	single nucleotide variant	NM_001034116.2(EIF2B4):c.783-17T>C	not provided [RCV002073541]	likely benign	2	27367576	27367576	Human		name
152165005	CV1543670	single nucleotide variant	NM_001034116.2(EIF2B4):c.1013+8C>T	not provided [RCV002123924]	likely benign	2	27367066	27367066	Human		name
152040636	CV1561800	deletion	NM_001034116.2(EIF2B4):c.211+12del	not provided [RCV002188207]	benign	2	27369402	27369402	Human		name
152069748	CV1569995	duplication	NM_001034116.2(EIF2B4):c.212-12dup	not provided [RCV002191626]	benign	2	27369223	27369224	Human		name
152098797	CV1595473	single nucleotide variant	NM_001034116.2(EIF2B4):c.783-18A>G	not provided [RCV002213726]	likely benign	2	27367577	27367577	Human		name
152162712	CV1635785	single nucleotide variant	NM_001034116.2(EIF2B4):c.211+12G>A	not provided [RCV002203711]	likely benign	2	27369402	27369402	Human		name
152173891	CV1659991	deletion	NM_001034116.2(EIF2B4):c.212-12del	not provided [RCV002162961]	benign	2	27369224	27369224	Human		name
152152585	CV1664516	single nucleotide variant	NM_001034116.2(EIF2B4):c.418+10C>T	not provided [RCV002158412]	likely benign	2	27368996	27368996	Human		name
8596301	CV19158	single nucleotide variant	NM_001034116.2(EIF2B4):c.1191+1G>A	Leukoencephalopathy with vanishing white matter 4 [RCV003221395]	pathogenic	2	27366758	27366758	Human	1	name
156392684	CV1987716	single nucleotide variant	NM_001034116.2(EIF2B4):c.591-14C>T	not provided [RCV002635143]	likely benign\|uncertain significance	2	27368153	27368153	Human		name
156074378	CV1989341	single nucleotide variant	NM_001034116.2(EIF2B4):c.419-15A>T	not provided [RCV002638697]	likely benign	2	27368748	27368748	Human		name
156027257	CV2004674	single nucleotide variant	NM_001034116.2(EIF2B4):c.419-14T>C	not provided [RCV002658508]	likely benign	2	27368747	27368747	Human		name
156218791	CV2047779	single nucleotide variant	NM_001034116.2(EIF2B4):c.590+11A>G	not provided [RCV002790551]	likely benign	2	27368361	27368361	Human		name
156047756	CV2059920	single nucleotide variant	NM_001034116.2(EIF2B4):c.1192-9G>A	not provided [RCV002796663]	likely benign	2	27364907	27364907	Human		name
11550937	CV250712	single nucleotide variant	NM_001034116.2(EIF2B4):c.782+26C>A	not specified [RCV000252394]	likely benign	2	27367720	27367720	Human		name
11549479	CV250713	single nucleotide variant	NM_001034116.2(EIF2B4):c.498+37T>C	not specified [RCV000250479]	likely benign	2	27368617	27368617	Human		name
405016272	CV2855729	single nucleotide variant	NM_001034116.2(EIF2B4):c.783-12G>A	not provided [RCV003577157]	likely benign	2	27367571	27367571	Human		name
11661334	CV285835	single nucleotide variant	NM_001034116.2(EIF2B4):c.1373-4G>A	Vanishing white matter disease [RCV000375500]	uncertain significance	2	27364603	27364603	Human	2	name
405204468	CV2858591	single nucleotide variant	NM_001034116.2(EIF2B4):c.706-18A>T	not provided [RCV003551765]	likely benign	2	27367840	27367840	Human		name
405170667	CV2911867	single nucleotide variant	NM_001034116.2(EIF2B4):c.418+19A>C	not provided [RCV003563033]	likely benign	2	27368987	27368987	Human		name
405221316	CV2912724	single nucleotide variant	NM_001034116.2(EIF2B4):c.591-17C>T	not provided [RCV003568398]	likely benign	2	27368156	27368156	Human		name
405030094	CV2926122	single nucleotide variant	NM_001034116.2(EIF2B4):c.1372+9G>A	not provided [RCV003578295]	likely benign	2	27364709	27364709	Human		name
405124659	CV2942608	single nucleotide variant	NM_001034116.2(EIF2B4):c.782+15A>T	not provided [RCV003671751]	likely benign	2	27367731	27367731	Human		name
402492394	CV2945699	single nucleotide variant	NM_001034116.2(EIF2B4):c.419-18A>G	not provided [RCV003660594]	likely benign	2	27368751	27368751	Human		name
405092595	CV2947078	single nucleotide variant	NM_001034116.2(EIF2B4):c.783-16T>C	not provided [RCV003665389]	likely benign	2	27367575	27367575	Human		name
405127755	CV2954797	single nucleotide variant	NM_001034116.2(EIF2B4):c.782+19G>A	not provided [RCV003668090]	likely benign	2	27367727	27367727	Human		name
405136877	CV2958015	single nucleotide variant	NM_001034116.2(EIF2B4):c.782+20T>C	not provided [RCV003672754]	likely benign	2	27367726	27367726	Human		name
405133800	CV2959339	single nucleotide variant	NM_001034116.2(EIF2B4):c.212-11A>T	not provided [RCV003668570]	likely benign	2	27369223	27369223	Human		name
405140605	CV2961984	single nucleotide variant	NM_001034116.2(EIF2B4):c.885+14G>C	not provided [RCV003673190]	likely benign	2	27367443	27367443	Human		name
405229786	CV2977382	single nucleotide variant	NM_001034116.2(EIF2B4):c.783-15G>A	not provided [RCV003711318]	likely benign	2	27367574	27367574	Human		name
405238690	CV2983101	single nucleotide variant	NM_001034116.2(EIF2B4):c.1013+1G>T	not provided [RCV003683563]	likely pathogenic	2	27367073	27367073	Human		name
405116938	CV2992899	single nucleotide variant	NM_001034116.2(EIF2B4):c.783-20G>A	not provided [RCV003723462]	likely benign	2	27367579	27367579	Human		name
405015180	CV2995251	duplication	NM_001034116.2(EIF2B4):c.706-10dup	not provided [RCV003694327]	likely benign	2	27367831	27367832	Human		name
405238388	CV2996707	single nucleotide variant	NM_001034116.2(EIF2B4):c.1192-5A>C	not provided [RCV003718657]	likely benign	2	27364903	27364903	Human		name
405239118	CV2996989	single nucleotide variant	NM_001034116.2(EIF2B4):c.590+20T>C	not provided [RCV003718792]	likely benign	2	27368352	27368352	Human		name
405020336	CV3002008	single nucleotide variant	NM_001034116.2(EIF2B4):c.498+10G>A	not provided [RCV003694769]	likely benign	2	27368644	27368644	Human		name
402503571	CV3007184	single nucleotide variant	NM_001034116.2(EIF2B4):c.782+12A>G	not provided [RCV003688749]	likely benign	2	27367734	27367734	Human		name
404980247	CV3009849	single nucleotide variant	NM_001034116.2(EIF2B4):c.418+12T>G	not provided [RCV003691100]	likely benign	2	27368994	27368994	Human		name
405005625	CV3016431	single nucleotide variant	NM_001034116.2(EIF2B4):c.499-11G>A	not provided [RCV003693434]	likely benign	2	27368474	27368474	Human		name
405093003	CV3022566	single nucleotide variant	NM_001034116.2(EIF2B4):c.498+20C>A	not provided [RCV003699867]	likely benign	2	27368634	27368634	Human		name
405199564	CV3032874	single nucleotide variant	NM_001034116.2(EIF2B4):c.706-16C>T	not provided [RCV003707234]	likely benign	2	27367838	27367838	Human		name
402507461	CV3036102	single nucleotide variant	NM_001034116.2(EIF2B4):c.1373-7A>T	not provided [RCV003715342]	likely benign	2	27364606	27364606	Human		name
402498450	CV3038229	single nucleotide variant	NM_001034116.2(EIF2B4):c.886-11A>G	not provided [RCV003714493]	likely benign	2	27367212	27367212	Human		name
405211189	CV3117775	single nucleotide variant	NM_001034116.2(EIF2B4):c.499-16C>G	not provided [RCV003823374]	likely benign	2	27368479	27368479	Human		name
405113409	CV3118690	single nucleotide variant	NM_001034116.2(EIF2B4):c.212-12T>A	not provided [RCV003813918]	likely benign	2	27369224	27369224	Human		name
405214020	CV3128275	single nucleotide variant	NM_001034116.2(EIF2B4):c.498+14T>G	not provided [RCV003823699]	likely benign	2	27368640	27368640	Human		name
405186952	CV3156469	single nucleotide variant	NM_001034116.2(EIF2B4):c.591-13G>A	not provided [RCV003859347]	likely benign	2	27368152	27368152	Human		name
405231957	CV3157499	single nucleotide variant	NM_001034116.2(EIF2B4):c.591-12C>A	not provided [RCV003865449]	likely benign	2	27368151	27368151	Human		name
402499434	CV3170422	single nucleotide variant	NM_001034116.2(EIF2B4):c.498+10G>C	not provided [RCV003877794]	likely benign	2	27368644	27368644	Human		name
405241167	CV3176812	single nucleotide variant	NM_001034116.2(EIF2B4):c.590+17T>C	not provided [RCV003867250]	likely benign	2	27368355	27368355	Human		name
597965089	CV3830686	single nucleotide variant	NM_001034116.2(EIF2B4):c.419-13G>A	not provided [RCV005164826]	likely benign	2	27368746	27368746	Human		name
597842669	CV3831064	single nucleotide variant	NM_001034116.2(EIF2B4):c.499-11G>C	not provided [RCV005172445]	likely benign	2	27368474	27368474	Human		name
597832572	CV3831305	single nucleotide variant	NM_001034116.2(EIF2B4):c.705+12C>T	not provided [RCV005170508]	likely benign	2	27368013	27368013	Human		name
13831549	CV582047	single nucleotide variant	NM_001034116.2(EIF2B4):c.1191+2T>C	not provided [RCV000722229]	likely pathogenic\|uncertain significance	2	27366757	27366757	Human		name
28886294	CV887348	single nucleotide variant	NM_001034116.2(EIF2B4):c.211+11G>A	Vanishing white matter disease [RCV001137762]	uncertain significance	2	27369403	27369403	Human	2	name
150479572	CV1221527	single nucleotide variant	NM_001034116.2(EIF2B4):c.591-103G>A	not provided [RCV001616606]	benign	2	27368242	27368242	Human		name
150456860	CV1248710	single nucleotide variant	NM_001034116.2(EIF2B4):c.419-108C>T	not provided [RCV001668886]	benign	2	27368841	27368841	Human		name
152111607	CV1550347	single nucleotide variant	NM_001034116.2(EIF2B4):c.1014-12C>A	not provided [RCV002153126]	likely benign	2	27366948	27366948	Human		name
152092913	CV1571368	deletion	NM_001034116.2(EIF2B4):c.1014-20del	not provided [RCV002150822]	likely benign	2	27366956	27366956	Human		name
152059693	CV1596115	single nucleotide variant	NM_001034116.2(EIF2B4):c.1373-15C>T	not provided [RCV002090104]	likely benign	2	27364614	27364614	Human		name
152087152	CV1625808	single nucleotide variant	NM_001034116.2(EIF2B4):c.1192-16T>C	not provided [RCV002131569]	likely benign	2	27364914	27364914	Human		name
152056275	CV1662859	single nucleotide variant	NM_001034116.2(EIF2B4):c.1192-20C>A	not provided [RCV002146273]	likely benign	2	27364918	27364918	Human		name
9688657	CV177695	single nucleotide variant	NM_001034116.2(EIF2B4):c.1372+13A>C	Vanishing white matter disease [RCV000281030]\|not provided [RCV001518917]\|not specified [RCV000153194]	benign\|likely benign	2	27364705	27364705	Human	2	name
156205002	CV1959226	single nucleotide variant	NM_001034116.2(EIF2B4):c.1373-19G>A	not provided [RCV002574924]	likely benign	2	27364618	27364618	Human		name
156170846	CV1968310	single nucleotide variant	NM_001034116.2(EIF2B4):c.1191+17A>T	not provided [RCV002594766]	likely benign	2	27366742	27366742	Human		name
402505554	CV2927745	single nucleotide variant	NM_001034116.2(EIF2B4):c.1372+19A>G	not provided [RCV003574419]	likely benign	2	27364699	27364699	Human		name
402485045	CV2937564	single nucleotide variant	NM_001034116.2(EIF2B4):c.1192-19C>T	not provided [RCV003659834]	likely benign	2	27364917	27364917	Human		name
405157004	CV2949516	single nucleotide variant	NM_001034116.2(EIF2B4):c.1192-20C>T	not provided [RCV003674314]	likely benign	2	27364918	27364918	Human		name
405126073	CV2958431	single nucleotide variant	NM_001034116.2(EIF2B4):c.1014-12C>T	not provided [RCV003667933]	likely benign	2	27366948	27366948	Human		name
405140969	CV2962035	deletion	NM_001034116.2(EIF2B4):c.1191+19del	not provided [RCV003673219]	likely benign	2	27366740	27366740	Human		name
405221039	CV2969636	single nucleotide variant	NM_001034116.2(EIF2B4):c.1014-17C>T	not provided [RCV003680568]	likely benign	2	27366953	27366953	Human		name
405238702	CV2983105	single nucleotide variant	NM_001034116.2(EIF2B4):c.1191+20A>C	not provided [RCV003683565]	likely benign	2	27366739	27366739	Human		name
402478929	CV2990324	single nucleotide variant	NM_001034116.2(EIF2B4):c.1192-14C>T	not provided [RCV003686388]	likely benign	2	27364912	27364912	Human		name
405249932	CV2997132	single nucleotide variant	NM_001034116.2(EIF2B4):c.1191+20A>G	not provided [RCV003721478]	likely benign	2	27366739	27366739	Human		name
405122649	CV3020929	single nucleotide variant	NM_001034116.2(EIF2B4):c.1373-14G>T	not provided [RCV003700925]	likely benign	2	27364613	27364613	Human		name
405224764	CV3035945	duplication	NM_001034116.2(EIF2B4):c.1014-17dup	not provided [RCV003710434]	likely benign	2	27366952	27366953	Human		name
405088757	CV3122255	single nucleotide variant	NM_001034116.2(EIF2B4):c.1373-14G>A	not provided [RCV003811010]	likely benign	2	27364613	27364613	Human		name
405194748	CV3128416	single nucleotide variant	NM_001034116.2(EIF2B4):c.1013+16T>C	not provided [RCV003821153]	likely benign	2	27367058	27367058	Human		name
405101482	CV3144332	single nucleotide variant	NM_001034116.2(EIF2B4):c.1373-18G>A	not provided [RCV003852785]	likely benign	2	27364617	27364617	Human		name
405159840	CV3159819	single nucleotide variant	NM_001034116.2(EIF2B4):c.1372+10C>G	not provided [RCV003856890]	likely benign	2	27364708	27364708	Human		name
405236233	CV3168694	single nucleotide variant	NM_001034116.2(EIF2B4):c.1372+12A>G	not provided [RCV003866168]	likely benign	2	27364706	27364706	Human		name
405225619	CV3169281	single nucleotide variant	NM_001034116.2(EIF2B4):c.1192-12C>T	not provided [RCV003864304]	likely benign	2	27364910	27364910	Human		name
404980057	CV3183301	single nucleotide variant	NM_001034116.2(EIF2B4):c.1013+13C>T	not provided [RCV003880324]	likely benign	2	27367061	27367061	Human		name
597926283	CV3748884	single nucleotide variant	NM_001034116.2(EIF2B4):c.1191+19G>A	not provided [RCV005075340]	likely benign	2	27366740	27366740	Human		name
597954401	CV3786679	deletion	NM_001034116.2(EIF2B4):c.1372+14del	not provided [RCV005121770]	benign	2	27364704	27364704	Human		name
597959727	CV3811453	single nucleotide variant	NM_001034116.2(EIF2B4):c.1014-10T>C	not provided [RCV005163299]	likely benign	2	27366946	27366946	Human		name
28892722	CV887347	single nucleotide variant	NM_001034116.2(EIF2B4):c.1191+13G>A	Vanishing white matter disease [RCV001139873]\|not provided [RCV002070663]	likely benign\|uncertain significance	2	27366746	27366746	Human	2	name
150481582	CV1222188	deletion	NM_001034116.2(EIF2B4):c.1192-158del	not provided [RCV001616986]	benign	2	27365056	27365056	Human		name
405228787	CV2980862	deletion	NM_001034116.2(EIF2B4):c.66_75+18del	not provided [RCV003711160]	likely pathogenic	2	27369858	27369885	Human		name
126741632	CV1019638	deletion	NM_001034116.2(EIF2B4):c.32-16_32-15del	not provided [RCV003864808]	pathogenic\|likely benign	2	27369934	27369935	Human		name
152049561	CV1618501	single nucleotide variant	NM_001034116.2(EIF2B4):c.9T>C (p.Ala3=)	not provided [RCV002166695]	likely benign	2	27370306	27370306	Human		name
401860171	CV2748865	deletion	NM_001034116.2(EIF2B4):c.498+2_498+5del	Vanishing white matter disease [RCV003331687]	likely pathogenic	2	27368649	27368652	Human	2	name
405172278	CV2897649	deletion	NM_001034116.2(EIF2B4):c.76-15_76-14del	not provided [RCV003563221]	likely benign	2	27369563	27369564	Human		name
405208131	CV2909161	single nucleotide variant	NM_001034116.2(EIF2B4):c.9T>A (p.Ala3=)	not provided [RCV003566748]	likely benign	2	27370306	27370306	Human		name
402481120	CV3000971	deletion	NM_001034116.2(EIF2B4):c.31+15_31+19del	not provided [RCV003686570]	likely benign	2	27370265	27370269	Human		name
152029203	CV1653080	single nucleotide variant	NM_001034116.2(EIF2B4):c.24T>C (p.Val8=)	not provided [RCV002085722]	likely benign	2	27370291	27370291	Human		name
405182150	CV2909605	deletion	NM_001034116.2(EIF2B4):c.1013+67_1169del	not provided [RCV003564083]	pathogenic	2	27366781	27367007	Human		name
405228993	CV3153428	single nucleotide variant	NM_001034116.2(EIF2B4):c.21T>C (p.Ala7=)	not provided [RCV003848492]	likely benign	2	27370294	27370294	Human		name
402513770	CV3178752	single nucleotide variant	NM_001034116.2(EIF2B4):c.15C>T (p.Ala5=)	not provided [RCV003879185]	likely benign	2	27370300	27370300	Human		name
15111646	CV719817	single nucleotide variant	NM_001034116.2(EIF2B4):c.27C>T (p.Arg9=)	EIF2B4-related disorder [RCV003922826]\|Vanishing white matter disease [RCV001140003]\|not provided [RCV000894307]	benign	2	27370288	27370288	Human	3	name , trait , alternate_id
150509671	CV1284611	deletion	NM_001034116.2(EIF2B4):c.211+66_211+76del	not provided [RCV001720719]	benign	2	27369338	27369348	Human		name
152048103	CV1527332	microsatellite	NM_001034116.2(EIF2B4):c.705+20_705+23del	not provided [RCV002071835]	likely benign	2	27368002	27368005	Human		name
152077828	CV1564744	single nucleotide variant	NM_001034116.2(EIF2B4):c.54G>A (p.Ala18=)	not provided [RCV002192649]	likely benign	2	27369897	27369897	Human		name
152163328	CV1635884	inversion	NM_001034116.2(EIF2B4):c.1014-8_1014-7inv	not provided [RCV002203811]	likely benign	2	27366943	27366944	Human		name
152107626	CV1657346	single nucleotide variant	NM_001034116.2(EIF2B4):c.36G>A (p.Ser12=)	not provided [RCV002215032]	likely benign	2	27369915	27369915	Human		name
156270066	CV1970909	microsatellite	NM_001034116.2(EIF2B4):c.419-13_419-11del	not provided [RCV002598062]	likely benign	2	27368744	27368746	Human		name
156009543	CV1989630	single nucleotide variant	NM_001034116.2(EIF2B4):c.30G>A (p.Glu10=)	not provided [RCV002636149]	uncertain significance	2	27370285	27370285	Human		name
11594171	CV286594	single nucleotide variant	NM_001034116.2(EIF2B4):c.69G>T (p.Gly23=)	Vanishing white matter disease [RCV000356299]\|not provided [RCV003765961]	likely benign\|uncertain significance	2	27369882	27369882	Human	2	name
405109588	CV2898828	deletion	NM_001034116.2(EIF2B4):c.782+18_782+30del	not provided [RCV003557707]	likely benign	2	27367716	27367728	Human		name
405211642	CV2917332	microsatellite	NM_001034116.2(EIF2B4):c.782+16_782+17del	not provided [RCV003567252]	likely benign	2	27367729	27367730	Human		name
405072562	CV2941161	single nucleotide variant	NM_001034116.2(EIF2B4):c.36G>C (p.Ser12=)	not provided [RCV003664069]	likely benign	2	27369915	27369915	Human		name
405175959	CV2951888	deletion	NM_001034116.2(EIF2B4):c.212-13_212-12del	not provided [RCV003675830]	benign	2	27369224	27369225	Human		name
405121192	CV3003992	single nucleotide variant	NM_001034116.2(EIF2B4):c.60T>C (p.Leu20=)	not provided [RCV003723908]	likely benign	2	27369891	27369891	Human		name
402485820	CV3033875	duplication	NM_001034116.2(EIF2B4):c.212-13_212-12dup	not provided [RCV003713283]	benign	2	27369223	27369224	Human		name
405029498	CV3080566	single nucleotide variant	NM_001034116.2(EIF2B4):c.63C>T (p.Pro21=)	not provided [RCV003739035]	likely benign	2	27369888	27369888	Human		name
405205767	CV3165721	deletion	NM_001034116.2(EIF2B4):c.418+16_418+36del	not provided [RCV003861387]	likely benign	2	27368970	27368990	Human		name
152149935	CV1545483	single nucleotide variant	NM_001034116.2(EIF2B4):c.291G>A (p.Lys97=)	not provided [RCV002121599]	likely benign	2	27369133	27369133	Human		name
155947112	CV1921677	single nucleotide variant	NM_001034116.2(EIF2B4):c.20C>T (p.Ala7Val)	not provided [RCV002616008]	uncertain significance	2	27370295	27370295	Human		name
155910257	CV1980089	single nucleotide variant	NM_001034116.2(EIF2B4):c.204A>G (p.Gln68=)	not provided [RCV002613935]	likely benign	2	27369421	27369421	Human		name
155991605	CV2379219	single nucleotide variant	NM_001034116.2(EIF2B4):c.20C>G (p.Ala7Gly)	Inborn genetic diseases [RCV002689262]	uncertain significance	2	27370295	27370295	Human	1	name
401860399	CV2749915	single nucleotide variant	NM_001034116.2(EIF2B4):c.10G>C (p.Val4Leu)	Inborn genetic diseases [RCV004621774]\|Vanishing white matter disease [RCV003333320]	uncertain significance	2	27370305	27370305	Human	3	name
402481641	CV2864141	single nucleotide variant	NM_001034116.2(EIF2B4):c.189T>A (p.Ala63=)	not provided [RCV003544030]	likely benign	2	27369436	27369436	Human		name
11588575	CV288827	single nucleotide variant	NM_001034116.2(EIF2B4):c.219A>C (p.Pro73=)	Vanishing white matter disease [RCV000303952]\|not provided [RCV002057689]	likely benign\|uncertain significance	2	27369205	27369205	Human	2	name
405067963	CV2944528	duplication	NM_001034116.2(EIF2B4):c.84dup (p.Arg29fs)	not provided [RCV003663735]	pathogenic	2	27369540	27369541	Human		name
405082724	CV2946312	single nucleotide variant	NM_001034116.2(EIF2B4):c.255C>T (p.Gly85=)	not provided [RCV003664736]	likely benign	2	27369169	27369169	Human		name
405159155	CV2950136	single nucleotide variant	NM_001034116.2(EIF2B4):c.288T>C (p.Ser96=)	not provided [RCV003674558]	likely benign	2	27369136	27369136	Human		name
405176655	CV2951984	single nucleotide variant	NM_001034116.2(EIF2B4):c.147A>G (p.Lys49=)	not provided [RCV003675889]	likely benign	2	27369478	27369478	Human		name
405143130	CV2958915	single nucleotide variant	NM_001034116.2(EIF2B4):c.180T>A (p.Thr60=)	not provided [RCV003673411]	likely benign	2	27369445	27369445	Human		name
405118278	CV2993035	single nucleotide variant	NM_001034116.2(EIF2B4):c.267G>A (p.Glu89=)	not provided [RCV003723538]	likely benign	2	27369157	27369157	Human		name
402503805	CV3007230	single nucleotide variant	NM_001034116.2(EIF2B4):c.162G>A (p.Lys54=)	not provided [RCV003688772]	likely benign	2	27369463	27369463	Human		name
405077317	CV3031750	single nucleotide variant	NM_001034116.2(EIF2B4):c.129G>A (p.Lys43=)	not provided [RCV003698678]	likely benign	2	27369496	27369496	Human		name
405251821	CV3046262	single nucleotide variant	NM_001034116.2(EIF2B4):c.279T>C (p.Ala93=)	not provided [RCV003722005]	likely benign	2	27369145	27369145	Human		name
405184542	CV3061859	single nucleotide variant	NM_001034116.2(EIF2B4):c.144G>A (p.Lys48=)	not provided [RCV003729135]	likely benign	2	27369481	27369481	Human		name
405181529	CV3119968	single nucleotide variant	NM_001034116.2(EIF2B4):c.123G>A (p.Lys41=)	not provided [RCV003820061]	likely benign	2	27369502	27369502	Human		name
405147446	CV3126600	single nucleotide variant	NM_001034116.2(EIF2B4):c.273T>G (p.Val91=)	not provided [RCV003817327]	likely benign	2	27369151	27369151	Human		name
404985986	CV3135385	single nucleotide variant	NM_001034116.2(EIF2B4):c.189T>G (p.Ala63=)	not provided [RCV003826680]	likely benign	2	27369436	27369436	Human		name
405174919	CV3150590	single nucleotide variant	NM_001034116.2(EIF2B4):c.159A>G (p.Glu53=)	not provided [RCV003841864]	likely benign	2	27369466	27369466	Human		name
405230695	CV3157258	single nucleotide variant	NM_001034116.2(EIF2B4):c.250T>C (p.Leu84=)	not provided [RCV003865208]	likely benign	2	27369174	27369174	Human		name
405235701	CV3166341	single nucleotide variant	NM_001034116.2(EIF2B4):c.183C>T (p.Gly61=)	not provided [RCV003853790]	likely benign	2	27369442	27369442	Human		name
405236076	CV3168970	single nucleotide variant	NM_001034116.2(EIF2B4):c.240G>A (p.Ser80=)	not provided [RCV003866249]	likely benign	2	27369184	27369184	Human		name
404998560	CV3173069	single nucleotide variant	NM_001034116.2(EIF2B4):c.294C>T (p.Ala98=)	not provided [RCV003882352]	likely benign	2	27369130	27369130	Human		name
402476789	CV3173865	single nucleotide variant	NM_001034116.2(EIF2B4):c.243C>T (p.Gly81=)	not provided [RCV003875403]	likely benign	2	27369181	27369181	Human		name
597921014	CV3765207	single nucleotide variant	NM_001034116.2(EIF2B4):c.207T>C (p.Cys69=)	not provided [RCV005115224]	likely benign	2	27369418	27369418	Human		name
598178985	CV3961328	single nucleotide variant	NM_001034116.2(EIF2B4):c.25C>T (p.Arg9Cys)	Inborn genetic diseases [RCV005332430]	uncertain significance	2	27370290	27370290	Human	1	name
15139880	CV747555	single nucleotide variant	NM_001034116.2(EIF2B4):c.270A>G (p.Lys90=)	not provided [RCV000921586]	likely benign	2	27369154	27369154	Human		name
15106557	CV781295	single nucleotide variant	NM_001034116.2(EIF2B4):c.165G>A (p.Gly55=)	not provided [RCV000976654]	likely benign	2	27369460	27369460	Human		name
126738218	CV1016055	single nucleotide variant	NM_001034116.2(EIF2B4):c.90A>C (p.Glu30Asp)	Vanishing white matter disease [RCV001328915]	uncertain significance	2	27369535	27369535	Human	2	name
151858959	CV1343878	single nucleotide variant	NM_001034116.2(EIF2B4):c.726A>G (p.Thr242=)	not provided [RCV002034127]	likely benign	2	27367802	27367802	Human		name
8659501	CV134436	single nucleotide variant	NM_001034116.2(EIF2B4):c.729G>A (p.Pro243=)	Vanishing white matter disease [RCV001142529]\|not provided [RCV001519623]\|not specified [RCV000116971]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	27367799	27367799	Human	8	name
8659501	CV134436	single nucleotide variant	NM_001034116.2(EIF2B4):c.729G>A (p.Pro243=)	Vanishing white matter disease [RCV001142529]\|not provided [RCV001519623]\|not specified [RCV000116971]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	27367799	27367800	Human	8	name
151760889	CV1404223	single nucleotide variant	NM_001034116.2(EIF2B4):c.58C>G (p.Leu20Val)	not provided [RCV002007847]	uncertain significance	2	27369893	27369893	Human		name
151868655	CV1438121	single nucleotide variant	NM_001034116.2(EIF2B4):c.74G>T (p.Gly25Val)	not provided [RCV001906190]	uncertain significance	2	27369877	27369877	Human		name
151847439	CV1484000	single nucleotide variant	NM_001034116.2(EIF2B4):c.35C>T (p.Ser12Leu)	not provided [RCV001903626]	uncertain significance	2	27369916	27369916	Human		name
152037442	CV1534470	single nucleotide variant	NM_001034116.2(EIF2B4):c.630C>T (p.Leu210=)	not provided [RCV002107228]	likely benign	2	27368100	27368100	Human		name
152156203	CV1561136	single nucleotide variant	NM_001034116.2(EIF2B4):c.891G>A (p.Lys297=)	not provided [RCV002102988]	likely benign	2	27367196	27367196	Human		name
156407063	CV1963885	single nucleotide variant	NM_001034116.2(EIF2B4):c.972C>T (p.Tyr324=)	not provided [RCV002586109]	likely benign	2	27367115	27367115	Human		name
156280687	CV2054969	single nucleotide variant	NM_001034116.2(EIF2B4):c.74G>C (p.Gly25Ala)	not provided [RCV002832829]	uncertain significance	2	27369877	27369877	Human		name
156290385	CV2068824	single nucleotide variant	NM_001034116.2(EIF2B4):c.31G>C (p.Asp11His)	not provided [RCV002856727]	uncertain significance	2	27370284	27370284	Human		name
155948941	CV2069016	single nucleotide variant	NM_001034116.2(EIF2B4):c.41C>T (p.Ser14Phe)	not provided [RCV002862240]	uncertain significance	2	27369910	27369910	Human		name
11547421	CV250711	single nucleotide variant	NM_001034116.2(EIF2B4):c.930G>A (p.Glu310=)	not provided [RCV002519893]\|not specified [RCV000247737]	benign\|likely benign	2	27367157	27367157	Human		name
401761465	CV2699316	single nucleotide variant	NM_001034116.2(EIF2B4):c.83G>A (p.Gly28Glu)	Inborn genetic diseases [RCV003280878]	uncertain significance	2	27369542	27369542	Human	1	name
405167511	CV2857747	single nucleotide variant	NM_001034116.2(EIF2B4):c.711T>C (p.Ile237=)	not provided [RCV003541905]	likely benign	2	27367817	27367817	Human		name
405087497	CV2862387	single nucleotide variant	NM_001034116.2(EIF2B4):c.768A>C (p.Leu256=)	not provided [RCV003549667]	likely benign	2	27367760	27367760	Human		name
405218698	CV2869888	single nucleotide variant	NM_001034116.2(EIF2B4):c.969T>C (p.Ala323=)	not provided [RCV003553559]	likely benign	2	27367118	27367118	Human		name
405126312	CV2882769	single nucleotide variant	NM_001034116.2(EIF2B4):c.546C>T (p.His182=)	not provided [RCV003559603]	likely benign	2	27368416	27368416	Human		name
405151292	CV2888516	single nucleotide variant	NM_001034116.2(EIF2B4):c.657C>T (p.Val219=)	EIF2B4-related disorder [RCV003946707]\|not provided [RCV003561752]	likely benign	2	27368073	27368073	Human	1	name , trait , alternate_id
405119777	CV2891661	single nucleotide variant	NM_001034116.2(EIF2B4):c.483A>G (p.Lys161=)	not provided [RCV003558963]	likely benign	2	27368669	27368669	Human		name
11659398	CV289223	single nucleotide variant	NM_001034116.2(EIF2B4):c.342G>C (p.Leu114=)	Vanishing white matter disease [RCV000357596]\|not provided [RCV003765960]	likely benign\|uncertain significance	2	27369082	27369082	Human	2	name
11644451	CV289225	single nucleotide variant	NM_001034116.2(EIF2B4):c.95C>A (p.Thr32Asn)	Vanishing white matter disease [RCV000260246]	uncertain significance	2	27369530	27369530	Human	2	name
405216746	CV2897190	single nucleotide variant	NM_001034116.2(EIF2B4):c.579C>G (p.Thr193=)	not provided [RCV003567878]	likely benign	2	27368383	27368383	Human		name
405113546	CV2900793	single nucleotide variant	NM_001034116.2(EIF2B4):c.414C>A (p.Pro138=)	not provided [RCV003558214]	likely benign	2	27369010	27369010	Human		name
402474508	CV2919757	single nucleotide variant	NM_001034116.2(EIF2B4):c.940C>T (p.Leu314=)	not provided [RCV003571192]	likely benign	2	27367147	27367147	Human		name
402464437	CV2920075	single nucleotide variant	NM_001034116.2(EIF2B4):c.348G>A (p.Gln116=)	not provided [RCV003568965]	likely benign	2	27369076	27369076	Human		name
402501803	CV2932405	single nucleotide variant	NM_001034116.2(EIF2B4):c.504T>C (p.Pro168=)	not provided [RCV003574070]	likely benign	2	27368458	27368458	Human		name
405069425	CV2933234	single nucleotide variant	NM_001034116.2(EIF2B4):c.618C>G (p.Ala206=)	not provided [RCV003581025]	likely benign	2	27368112	27368112	Human		name
405100318	CV2938008	single nucleotide variant	NM_001034116.2(EIF2B4):c.690T>C (p.Leu230=)	not provided [RCV003665763]	likely benign	2	27368040	27368040	Human		name
405101519	CV2948234	single nucleotide variant	NM_001034116.2(EIF2B4):c.828C>T (p.Ala276=)	not provided [RCV003666180]	likely benign	2	27367514	27367514	Human		name
405075479	CV2948566	single nucleotide variant	NM_001034116.2(EIF2B4):c.519T>C (p.Tyr173=)	not provided [RCV003664235]	likely benign	2	27368443	27368443	Human		name
405113999	CV2948814	single nucleotide variant	NM_001034116.2(EIF2B4):c.879A>G (p.Glu293=)	not provided [RCV003666689]	likely benign	2	27367463	27367463	Human		name
405145961	CV2949963	single nucleotide variant	NM_001034116.2(EIF2B4):c.549A>G (p.Leu183=)	not provided [RCV003669678]	likely benign	2	27368413	27368413	Human		name
405151720	CV2950431	single nucleotide variant	NM_001034116.2(EIF2B4):c.336G>T (p.Arg112=)	not provided [RCV003670104]	likely benign	2	27369088	27369088	Human		name
405120512	CV2952329	single nucleotide variant	NM_001034116.2(EIF2B4):c.777C>T (p.Tyr259=)	not provided [RCV003671423]	likely benign	2	27367751	27367751	Human		name
405172776	CV2955316	single nucleotide variant	NM_001034116.2(EIF2B4):c.798C>T (p.Cys266=)	not provided [RCV003675560]	likely benign	2	27367544	27367544	Human		name
405171229	CV2961311	single nucleotide variant	NM_001034116.2(EIF2B4):c.375A>G (p.Pro125=)	not provided [RCV003675435]	likely benign	2	27369049	27369049	Human		name
405147141	CV2962785	single nucleotide variant	NM_001034116.2(EIF2B4):c.720C>T (p.Tyr240=)	not provided [RCV003673728]	likely benign	2	27367808	27367808	Human		name
405227983	CV2963726	single nucleotide variant	NM_001034116.2(EIF2B4):c.438G>A (p.Glu146=)	not provided [RCV003681759]	likely benign	2	27368714	27368714	Human		name
404997418	CV3008628	single nucleotide variant	NM_001034116.2(EIF2B4):c.457C>T (p.Leu153=)	not provided [RCV003692831]	likely benign	2	27368695	27368695	Human		name
402524402	CV3011441	single nucleotide variant	NM_001034116.2(EIF2B4):c.459A>G (p.Leu153=)	not provided [RCV003716594]	likely benign	2	27368693	27368693	Human		name
404977424	CV3015266	single nucleotide variant	NM_001034116.2(EIF2B4):c.334C>A (p.Arg112=)	not provided [RCV003690624]	likely benign	2	27369090	27369090	Human		name
405083360	CV3017162	single nucleotide variant	NM_001034116.2(EIF2B4):c.787C>T (p.Leu263=)	not provided [RCV003699207]	likely benign	2	27367555	27367555	Human		name
405135638	CV3018511	single nucleotide variant	NM_001034116.2(EIF2B4):c.543T>C (p.Ser181=)	not provided [RCV003701984]	likely benign	2	27368419	27368419	Human		name
405092592	CV3026094	single nucleotide variant	NM_001034116.2(EIF2B4):c.873G>A (p.Lys291=)	not provided [RCV003699836]	likely benign	2	27367469	27367469	Human		name
405196147	CV3037682	single nucleotide variant	NM_001034116.2(EIF2B4):c.927A>G (p.Gln309=)	not provided [RCV003706933]	likely benign	2	27367160	27367160	Human		name
405234972	CV3040750	single nucleotide variant	NM_001034116.2(EIF2B4):c.492T>C (p.Arg164=)	not provided [RCV003712175]	likely benign	2	27368660	27368660	Human		name
405225386	CV3042161	single nucleotide variant	NM_001034116.2(EIF2B4):c.340C>T (p.Leu114=)	not provided [RCV003710608]	likely benign	2	27369084	27369084	Human		name
405193808	CV3066346	single nucleotide variant	NM_001034116.2(EIF2B4):c.825C>T (p.Asn275=)	not provided [RCV003729973]	likely benign	2	27367517	27367517	Human		name
405113738	CV3118798	single nucleotide variant	NM_001034116.2(EIF2B4):c.570C>T (p.Asn190=)	not provided [RCV003814026]	likely benign	2	27368392	27368392	Human		name
405087407	CV3122072	single nucleotide variant	NM_001034116.2(EIF2B4):c.600C>T (p.Ser200=)	EIF2B4-related disorder [RCV003893418]\|not provided [RCV003810827]	likely benign	2	27368130	27368130	Human	1	name , trait , alternate_id
405029839	CV3129934	single nucleotide variant	NM_001034116.2(EIF2B4):c.552C>T (p.Pro184=)	not provided [RCV003830532]	likely benign	2	27368410	27368410	Human		name
405106901	CV3136197	deletion	NM_001034116.2(EIF2B4):c.1192-12_1192-10del	not provided [RCV003835543]	likely benign	2	27364908	27364910	Human		name
405107369	CV3136274	single nucleotide variant	NM_001034116.2(EIF2B4):c.672C>T (p.Ala224=)	not provided [RCV003835620]	likely benign	2	27368058	27368058	Human		name
405224912	CV3142267	single nucleotide variant	NM_001034116.2(EIF2B4):c.330C>T (p.Ala110=)	not provided [RCV003847806]	likely benign	2	27369094	27369094	Human		name
405187422	CV3149161	single nucleotide variant	NM_001034116.2(EIF2B4):c.804C>G (p.Pro268=)	not provided [RCV003843087]	likely benign	2	27367538	27367538	Human		name
405243821	CV3161112	single nucleotide variant	NM_001034116.2(EIF2B4):c.813G>A (p.Ala271=)	not provided [RCV003868021]	likely benign	2	27367529	27367529	Human		name
402501324	CV3170555	single nucleotide variant	NM_001034116.2(EIF2B4):c.951G>A (p.Gln317=)	not provided [RCV003877928]	likely benign	2	27367136	27367136	Human		name
597928761	CV3749178	single nucleotide variant	NM_001034116.2(EIF2B4):c.804C>A (p.Pro268=)	not provided [RCV005075634]	likely benign	2	27367538	27367538	Human		name
597922555	CV3775713	single nucleotide variant	NM_001034116.2(EIF2B4):c.945A>G (p.Ala315=)	not provided [RCV005115428]	likely benign	2	27367142	27367142	Human		name
597913976	CV3833864	single nucleotide variant	NM_001034116.2(EIF2B4):c.441C>T (p.Tyr147=)	not provided [RCV005183223]	likely benign	2	27368711	27368711	Human		name
13809407	CV576678	single nucleotide variant	NM_001034116.2(EIF2B4):c.372A>G (p.Gly124=)	Vanishing white matter disease [RCV001142532]\|not provided [RCV000711603]	benign\|likely benign\|uncertain significance	2	27369052	27369052	Human	2	name
15198146	CV719816	single nucleotide variant	NM_001034116.2(EIF2B4):c.429T>C (p.Arg143=)	not provided [RCV000890268]	benign	2	27368723	27368723	Human		name
15202827	CV747554	single nucleotide variant	NM_001034116.2(EIF2B4):c.600C>G (p.Ser200=)	not provided [RCV000913565]	likely benign	2	27368130	27368130	Human		name
15111370	CV747556	single nucleotide variant	NM_001034116.2(EIF2B4):c.51G>C (p.Lys17Asn)	not provided [RCV000916718]	benign\|conflicting interpretations of pathogenicity	2	27369900	27369900	Human		name
28899860	CV884578	single nucleotide variant	NM_001034116.2(EIF2B4):c.360G>A (p.Gly120=)	Vanishing white matter disease [RCV001142533]\|not provided [RCV003769680]	likely benign\|uncertain significance	2	27369064	27369064	Human	2	name
28893088	CV884581	single nucleotide variant	NM_001034116.2(EIF2B4):c.61C>T (p.Pro21Ser)	Vanishing white matter disease [RCV001140002]	uncertain significance	2	27369890	27369890	Human	2	name
8642650	CV101634	single nucleotide variant	NM_001034116.2(EIF2B4):c.1233C>T (p.Asn411=)	Vanishing white matter disease [RCV001139872]\|not provided [RCV001519223]\|not specified [RCV000081779]	benign	2	27364857	27364857	Human	2	name
126741625	CV1019637	single nucleotide variant	NM_001034116.2(EIF2B4):c.295G>A (p.Glu99Lys)	Vanishing white matter disease [RCV001336301]	uncertain significance	2	27369129	27369129	Human	2	name
151854186	CV1390797	single nucleotide variant	NM_001034116.2(EIF2B4):c.196G>A (p.Ala66Thr)	Inborn genetic diseases [RCV002562934]\|not provided [RCV001958389]	uncertain significance	2	27369429	27369429	Human	1	name
151857941	CV1406232	single nucleotide variant	NM_001034116.2(EIF2B4):c.1551A>C (p.Arg517=)	not provided [RCV001958842]	likely benign	2	27364421	27364421	Human		name
151824495	CV1421121	single nucleotide variant	NM_001034116.2(EIF2B4):c.249G>T (p.Gln83His)	Inborn genetic diseases [RCV005330934]\|not provided [RCV001869937]	uncertain significance	2	27369175	27369175	Human	1	name
152035053	CV1584770	single nucleotide variant	NM_001034116.2(EIF2B4):c.1218T>C (p.His406=)	not provided [RCV002125195]	likely benign	2	27364872	27364872	Human		name
152050995	CV1607009	single nucleotide variant	NM_001034116.2(EIF2B4):c.1155C>T (p.Tyr385=)	not provided [RCV002108967]	likely benign	2	27366795	27366795	Human		name
152146366	CV1631626	single nucleotide variant	NM_001034116.2(EIF2B4):c.1470T>C (p.Asp490=)	not provided [RCV002157497]	likely benign	2	27364502	27364502	Human		name
152143825	CV1636760	single nucleotide variant	NM_001034116.2(EIF2B4):c.1017A>G (p.Ser339=)	not provided [RCV002120736]	likely benign	2	27366933	27366933	Human		name
156383965	CV1870619	single nucleotide variant	NM_001034116.2(EIF2B4):c.1506G>A (p.Thr502=)	not provided [RCV003067399]	likely benign	2	27364466	27364466	Human		name
155956503	CV1915474	single nucleotide variant	NM_001034116.2(EIF2B4):c.134A>G (p.Gln45Arg)	not provided [RCV002616504]	uncertain significance	2	27369491	27369491	Human		name
156416260	CV1976491	single nucleotide variant	NM_001034116.2(EIF2B4):c.263G>A (p.Arg88Gln)	not provided [RCV002589607]	uncertain significance	2	27369161	27369161	Human		name
156216888	CV2015291	single nucleotide variant	NM_001034116.2(EIF2B4):c.283C>T (p.Arg95Trp)	not provided [RCV002700851]	uncertain significance	2	27369141	27369141	Human		name
156350368	CV2018689	single nucleotide variant	NM_001034116.2(EIF2B4):c.284G>A (p.Arg95Gln)	not provided [RCV002720139]	uncertain significance	2	27369140	27369140	Human		name
156254563	CV2025884	single nucleotide variant	NM_001034116.2(EIF2B4):c.1204C>T (p.Leu402=)	not provided [RCV002746105]	likely benign	2	27364886	27364886	Human		name
156035496	CV2059377	single nucleotide variant	NM_001034116.2(EIF2B4):c.1236G>A (p.Gly412=)	not provided [RCV002796234]	likely benign	2	27364854	27364854	Human		name
156210973	CV2074233	single nucleotide variant	NM_001034116.2(EIF2B4):c.1117C>T (p.Leu373=)	not provided [RCV002829295]	likely benign	2	27366833	27366833	Human		name
156112376	CV2088256	single nucleotide variant	NM_001034116.2(EIF2B4):c.193T>G (p.Ser65Ala)	not provided [RCV002889241]	uncertain significance	2	27369432	27369432	Human		name
155941670	CV2119900	single nucleotide variant	NM_001034116.2(EIF2B4):c.1440A>G (p.Ala480=)	not provided [RCV002971325]	likely benign	2	27364532	27364532	Human		name
155961142	CV2183498	deletion	NM_001034116.2(EIF2B4):c.806del (p.Leu269fs)	not provided [RCV003032943]	pathogenic	2	27367536	27367536	Human		name
156403202	CV2189824	single nucleotide variant	NM_001034116.2(EIF2B4):c.1311C>T (p.Cys437=)	not provided [RCV003052546]	likely benign	2	27364779	27364779	Human		name
11590122	CV286584	single nucleotide variant	NM_001034116.2(EIF2B4):c.1383T>C (p.Asp461=)	Vanishing white matter disease [RCV000316266]\|not provided [RCV002519964]	benign\|uncertain significance	2	27364589	27364589	Human	2	name
402491796	CV2866790	deletion	NM_001034116.2(EIF2B4):c.325del (p.Glu109fs)	not provided [RCV003573021]	pathogenic	2	27369099	27369099	Human		name
405190825	CV2871319	single nucleotide variant	NM_001034116.2(EIF2B4):c.1230C>T (p.Ala410=)	not provided [RCV003550360]	likely benign	2	27364860	27364860	Human		name
405198940	CV2876869	single nucleotide variant	NM_001034116.2(EIF2B4):c.1152C>T (p.Ser384=)	not provided [RCV003551188]	likely benign	2	27366798	27366798	Human		name
11582601	CV289218	single nucleotide variant	NM_001034116.2(EIF2B4):c.1392A>G (p.Gln464=)	EIF2B4-related disorder [RCV003972420]\|Vanishing white matter disease [RCV000261087]\|not provided [RCV000958286]\|not specified [RCV000516265]	benign\|likely benign\|uncertain significance	2	27364580	27364580	Human	3	name , trait , alternate_id
11659122	CV289224	single nucleotide variant	NM_001034116.2(EIF2B4):c.158A>G (p.Glu53Gly)	Vanishing white matter disease [RCV000355150]	uncertain significance	2	27369467	27369467	Human	2	name
405024350	CV2893396	single nucleotide variant	NM_001034116.2(EIF2B4):c.1389G>A (p.Leu463=)	not provided [RCV003577881]	likely benign	2	27364583	27364583	Human		name
405222010	CV2908321	single nucleotide variant	NM_001034116.2(EIF2B4):c.1302G>T (p.Val434=)	not provided [RCV003568577]	likely benign	2	27364788	27364788	Human		name
402472354	CV2912274	single nucleotide variant	NM_001034116.2(EIF2B4):c.1476T>G (p.Thr492=)	not provided [RCV003570779]	likely benign	2	27364496	27364496	Human		name
402469832	CV2931199	single nucleotide variant	NM_001034116.2(EIF2B4):c.1374T>C (p.Asp458=)	not provided [RCV003570218]	likely benign	2	27364598	27364598	Human		name
402497229	CV2946582	single nucleotide variant	NM_001034116.2(EIF2B4):c.1008T>C (p.Tyr336=)	not provided [RCV003661248]	likely benign	2	27367079	27367079	Human		name
405170280	CV2951249	single nucleotide variant	NM_001034116.2(EIF2B4):c.1119A>G (p.Leu373=)	not provided [RCV003675364]	likely benign	2	27366831	27366831	Human		name
405138062	CV2954514	single nucleotide variant	NM_001034116.2(EIF2B4):c.1173C>G (p.Ala391=)	not provided [RCV003672986]	likely benign	2	27366777	27366777	Human		name
405138193	CV2954532	single nucleotide variant	NM_001034116.2(EIF2B4):c.1207T>C (p.Leu403=)	not provided [RCV003672998]	likely benign	2	27364883	27364883	Human		name
405157022	CV2956571	single nucleotide variant	NM_001034116.2(EIF2B4):c.1293T>C (p.Asn431=)	not provided [RCV003674414]	likely benign	2	27364797	27364797	Human		name
405178521	CV2959865	single nucleotide variant	NM_001034116.2(EIF2B4):c.1116A>G (p.Thr372=)	not provided [RCV003676049]	likely benign	2	27366834	27366834	Human		name
405163847	CV2960585	single nucleotide variant	NM_001034116.2(EIF2B4):c.1248A>G (p.Ser416=)	not provided [RCV003674881]	likely benign	2	27364842	27364842	Human		name
405186606	CV2964065	single nucleotide variant	NM_001034116.2(EIF2B4):c.1206A>G (p.Leu402=)	not provided [RCV003676809]	likely benign	2	27364884	27364884	Human		name
405225122	CV2979373	single nucleotide variant	NM_001034116.2(EIF2B4):c.1510C>T (p.Leu504=)	not provided [RCV003681205]	likely benign	2	27364462	27364462	Human		name
402491832	CV2980938	single nucleotide variant	NM_001034116.2(EIF2B4):c.1459C>T (p.Leu487=)	not provided [RCV003713763]	likely benign	2	27364513	27364513	Human		name
405191101	CV2984754	single nucleotide variant	NM_001034116.2(EIF2B4):c.1569G>A (p.Gln523=)	not provided [RCV003706469]	likely benign	2	27364403	27364403	Human		name
405017023	CV2995400	single nucleotide variant	NM_001034116.2(EIF2B4):c.1035T>C (p.Ile345=)	not provided [RCV003694418]	likely benign	2	27366915	27366915	Human		name
405250061	CV2997237	single nucleotide variant	NM_001034116.2(EIF2B4):c.1566C>T (p.Asp522=)	not provided [RCV003721517]	likely benign	2	27364406	27364406	Human		name
402490763	CV3011837	single nucleotide variant	NM_001034116.2(EIF2B4):c.1146A>G (p.Pro382=)	not provided [RCV003687510]	likely benign	2	27366804	27366804	Human		name
405038443	CV3013487	single nucleotide variant	NM_001034116.2(EIF2B4):c.1536A>G (p.Val512=)	not provided [RCV003696135]	likely benign	2	27364436	27364436	Human		name
405134374	CV3018453	single nucleotide variant	NM_001034116.2(EIF2B4):c.1159C>T (p.Leu387=)	not provided [RCV003701974]	likely benign	2	27366791	27366791	Human		name
405121503	CV3024499	single nucleotide variant	NM_001034116.2(EIF2B4):c.1305G>A (p.Leu435=)	not provided [RCV003700728]	likely benign	2	27364785	27364785	Human		name
405180326	CV3027783	single nucleotide variant	NM_001034116.2(EIF2B4):c.1143C>T (p.Val381=)	not provided [RCV003705464]	likely benign	2	27366807	27366807	Human		name
402513080	CV3039812	single nucleotide variant	NM_001034116.2(EIF2B4):c.1257G>A (p.Gly419=)	not provided [RCV003715846]	likely benign	2	27364833	27364833	Human		name
405252391	CV3047203	single nucleotide variant	NM_001034116.2(EIF2B4):c.1533T>C (p.Ser511=)	not provided [RCV003722197]	likely benign	2	27364439	27364439	Human		name
405085696	CV3047729	single nucleotide variant	NM_001034116.2(EIF2B4):c.1422T>C (p.Ala474=)	not provided [RCV003717454]	likely benign	2	27364550	27364550	Human		name
405251560	CV3050053	single nucleotide variant	NM_001034116.2(EIF2B4):c.1060C>A (p.Arg354=)	not provided [RCV003721940]	likely benign	2	27366890	27366890	Human		name
405253525	CV3054289	single nucleotide variant	NM_001034116.2(EIF2B4):c.1491G>A (p.Val497=)	not provided [RCV003722571]	likely benign	2	27364481	27364481	Human		name
405245944	CV3075647	single nucleotide variant	NM_001034116.2(EIF2B4):c.1398G>A (p.Lys466=)	not provided [RCV003738600]	likely benign	2	27364574	27364574	Human		name
405114480	CV3115441	single nucleotide variant	NM_001034116.2(EIF2B4):c.1275G>A (p.Leu425=)	not provided [RCV003814123]	likely benign	2	27364815	27364815	Human		name
405114635	CV3115462	insertion	NM_001034116.2(EIF2B4):c.705+19_705+20insGAA	not provided [RCV003814144]	likely benign	2	27368005	27368006	Human		name
404998767	CV3120107	single nucleotide variant	NM_001034116.2(EIF2B4):c.1221A>G (p.Ala407=)	not provided [RCV003827897]	likely benign	2	27364869	27364869	Human		name
404977527	CV3127221	duplication	NM_001034116.2(EIF2B4):c.752dup (p.Asp251fs)	not provided [RCV003825444]	pathogenic	2	27367775	27367776	Human		name
405212046	CV3146354	deletion	NM_001034116.2(EIF2B4):c.868del (p.Ser290fs)	not provided [RCV003845885]	pathogenic	2	27367474	27367474	Human		name
405079928	CV3166741	single nucleotide variant	NM_001034116.2(EIF2B4):c.1188A>G (p.Pro396=)	not provided [RCV003851515]	likely benign	2	27366762	27366762	Human		name
405196015	CV3168100	single nucleotide variant	NM_001034116.2(EIF2B4):c.1437C>T (p.His479=)	not provided [RCV003860232]	likely benign	2	27364535	27364535	Human		name
402466475	CV3173608	single nucleotide variant	NM_001034116.2(EIF2B4):c.1021C>T (p.Leu341=)	not provided [RCV003873082]	likely benign	2	27366929	27366929	Human		name
402466703	CV3177697	single nucleotide variant	NM_001034116.2(EIF2B4):c.1095A>G (p.Pro365=)	not provided [RCV003873135]	likely benign	2	27366855	27366855	Human		name
405269609	CV3187410	single nucleotide variant	NM_001034116.2(EIF2B4):c.1173C>T (p.Ala391=)	not provided [RCV003887494]	likely benign	2	27366777	27366777	Human		name
597879286	CV3744497	single nucleotide variant	NM_001034116.2(EIF2B4):c.1350T>C (p.Asp450=)	not provided [RCV005069711]	likely benign	2	27364740	27364740	Human		name
597919703	CV3765023	single nucleotide variant	NM_001034116.2(EIF2B4):c.1320A>G (p.Thr440=)	not provided [RCV005115038]	likely benign	2	27364770	27364770	Human		name
597918726	CV3768529	single nucleotide variant	NM_001034116.2(EIF2B4):c.1035T>A (p.Ile345=)	not provided [RCV005114892]	likely benign	2	27366915	27366915	Human		name
597948754	CV3772177	single nucleotide variant	NM_001034116.2(EIF2B4):c.1450T>C (p.Leu484=)	not provided [RCV005120496]	likely benign	2	27364522	27364522	Human		name
597927083	CV3772703	single nucleotide variant	NM_001034116.2(EIF2B4):c.1131C>G (p.Val377=)	not provided [RCV005115853]	likely benign	2	27366819	27366819	Human		name
597961782	CV3808986	single nucleotide variant	NM_001034116.2(EIF2B4):c.1125T>C (p.Ser375=)	not provided [RCV005163888]	likely benign	2	27366825	27366825	Human		name
598178972	CV3961326	single nucleotide variant	NM_001034116.2(EIF2B4):c.242G>A (p.Gly81Asp)	Inborn genetic diseases [RCV005332428]	uncertain significance	2	27369182	27369182	Human	1	name
15170837	CV733420	single nucleotide variant	NM_001034116.2(EIF2B4):c.1416G>A (p.Ala472=)	not provided [RCV000905344]	likely benign	2	27364556	27364556	Human		name
15097570	CV763161	single nucleotide variant	NM_001034116.2(EIF2B4):c.1143C>A (p.Val381=)	not provided [RCV000936078]	likely benign	2	27366807	27366807	Human		name
15127381	CV781294	single nucleotide variant	NM_001034116.2(EIF2B4):c.1303C>T (p.Leu435=)	not provided [RCV000980537]	likely benign	2	27364787	27364787	Human		name
28885904	CV884572	single nucleotide variant	NM_001034116.2(EIF2B4):c.1488T>C (p.Leu496=)	Vanishing white matter disease [RCV001137649]	uncertain significance	2	27364484	27364484	Human	2	name
28886290	CV884580	single nucleotide variant	NM_001034116.2(EIF2B4):c.239C>T (p.Ser80Leu)	Vanishing white matter disease [RCV001137761]	uncertain significance	2	27369185	27369185	Human	2	name
38463119	CV918767	duplication	NM_001034116.2(EIF2B4):c.414dup (p.Ser139fs)	Vanishing white matter disease [RCV001198840]	likely pathogenic	2	27369009	27369010	Human	2	name
126730225	CV1024351	single nucleotide variant	NM_001034116.2(EIF2B4):c.566A>G (p.Gln189Arg)	Inborn genetic diseases [RCV004036576]\|not provided [RCV001349231]	uncertain significance	2	27368396	27368396	Human	1	name
150443080	CV1264541	insertion	NM_001034116.2(EIF2B4):c.1191+81_1191+82insAA	not provided [RCV001679525]	benign	2	27366677	27366678	Human		name
150543498	CV1309489	single nucleotide variant	NM_001034116.2(EIF2B4):c.904G>A (p.Ala302Thr)	not provided [RCV003238545]	uncertain significance	2	27367183	27367183	Human		name
8659502	CV134437	single nucleotide variant	NM_001034116.2(EIF2B4):c.916C>G (p.Arg306Gly)	Vanishing white matter disease [RCV000288347]\|not provided [RCV000711604]\|not specified [RCV000116972]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	27367171	27367171	Human	2	name
151856794	CV1363683	single nucleotide variant	NM_001034116.2(EIF2B4):c.826G>A (p.Ala276Thr)	not provided [RCV001904788]	uncertain significance	2	27367516	27367516	Human		name
151712040	CV1374357	single nucleotide variant	NM_001034116.2(EIF2B4):c.481A>T (p.Lys161Ter)	not provided [RCV001908211]	pathogenic	2	27368671	27368671	Human		name
151829850	CV1384327	single nucleotide variant	NM_001034116.2(EIF2B4):c.880G>A (p.Glu294Lys)	Inborn genetic diseases [RCV002562861]\|not provided [RCV001955572]	uncertain significance	2	27367462	27367462	Human	1	name
151769585	CV1410681	single nucleotide variant	NM_001034116.2(EIF2B4):c.410C>G (p.Thr137Ser)	not provided [RCV001971047]	uncertain significance	2	27369014	27369014	Human		name
151810414	CV1417344	single nucleotide variant	NM_001034116.2(EIF2B4):c.955A>G (p.Ile319Val)	Leukoencephalopathy with vanishing white matter 4 [RCV003448918]\|not provided [RCV002028917]	pathogenic\|uncertain significance	2	27367132	27367132	Human	1	name
151716741	CV1464925	single nucleotide variant	NM_001034116.2(EIF2B4):c.902G>A (p.Arg301Gln)	not provided [RCV002003043]	uncertain significance	2	27367185	27367185	Human		name
151716285	CV1472776	single nucleotide variant	NM_001034116.2(EIF2B4):c.692G>A (p.Arg231His)	not provided [RCV002039390]	uncertain significance	2	27368038	27368038	Human		name
151817440	CV1485837	single nucleotide variant	NM_001034116.2(EIF2B4):c.825C>A (p.Asn275Lys)	not provided [RCV002029560]	uncertain significance	2	27367517	27367517	Human		name
151720959	CV1494602	single nucleotide variant	NM_001034116.2(EIF2B4):c.433C>T (p.Pro145Ser)	not provided [RCV001965968]	likely benign	2	27368719	27368719	Human		name
151754838	CV1498825	single nucleotide variant	NM_001034116.2(EIF2B4):c.682G>A (p.Ala228Thr)	Inborn genetic diseases [RCV003161256]\|not provided [RCV002023751]	uncertain significance	2	27368048	27368048	Human	1	name
152101886	CV1667156	single nucleotide variant	NM_001034116.2(EIF2B4):c.346C>G (p.Gln116Glu)	not provided [RCV002214142]	uncertain significance	2	27369078	27369078	Human		name
152980552	CV1676004	single nucleotide variant	NM_001034116.2(EIF2B4):c.691C>T (p.Arg231Cys)	not provided [RCV002244593]	uncertain significance	2	27368039	27368039	Human		name
153346426	CV1691707	single nucleotide variant	NM_001034116.2(EIF2B4):c.631G>T (p.Gly211Cys)	Leukoencephalopathy with vanishing white matter 1 [RCV004785557]	likely pathogenic	2	27368099	27368099	Human	1	name
156331131	CV1877499	single nucleotide variant	NM_001034116.2(EIF2B4):c.700C>G (p.Gln234Glu)	not provided [RCV003063704]	uncertain significance	2	27368030	27368030	Human		name
155956228	CV1907315	single nucleotide variant	NM_001034116.2(EIF2B4):c.427C>T (p.Arg143Cys)	Inborn genetic diseases [RCV003095600]\|not provided [RCV003080715]	uncertain significance	2	27368725	27368725	Human	1	name
8596302	CV19159	single nucleotide variant	NM_001034116.2(EIF2B4):c.683C>T (p.Ala228Val)	Leukoencephalopathy with vanishing white matter 4 [RCV003221396]	pathogenic	2	27368047	27368047	Human	1	name
155997406	CV1986977	single nucleotide variant	NM_001034116.2(EIF2B4):c.583T>A (p.Phe195Ile)	Inborn genetic diseases [RCV003365758]\|not provided [RCV002618291]	uncertain significance	2	27368379	27368379	Human	1	name
156218094	CV2028762	single nucleotide variant	NM_001034116.2(EIF2B4):c.829A>T (p.Ile277Phe)	not provided [RCV002712031]	uncertain significance	2	27367513	27367513	Human		name
156349030	CV2069320	single nucleotide variant	NM_001034116.2(EIF2B4):c.460C>T (p.Leu154Phe)	not provided [RCV002811641]	uncertain significance	2	27368692	27368692	Human		name
156239421	CV2154718	single nucleotide variant	NM_001034116.2(EIF2B4):c.902G>C (p.Arg301Pro)	not provided [RCV003025949]	uncertain significance	2	27367185	27367185	Human		name
156328814	CV2216275	single nucleotide variant	NM_001034116.2(EIF2B4):c.641A>C (p.Tyr214Ser)	Inborn genetic diseases [RCV002717742]	uncertain significance	2	27368089	27368089	Human	1	name
156087428	CV2241324	single nucleotide variant	NM_001034116.2(EIF2B4):c.413C>T (p.Pro138Leu)	Inborn genetic diseases [RCV002738274]	uncertain significance	2	27369011	27369011	Human	1	name
156139945	CV2250632	single nucleotide variant	NM_001034116.2(EIF2B4):c.820C>T (p.His274Tyr)	Inborn genetic diseases [RCV002826124]	likely benign	2	27367522	27367522	Human	1	name
11350655	CV237466	single nucleotide variant	NM_001034116.2(EIF2B4):c.302G>T (p.Arg101Leu)	Inborn genetic diseases [RCV003258708]\|not provided [RCV000224152]	uncertain significance	2	27369122	27369122	Human	1	name
156434479	CV2402924	single nucleotide variant	NM_001034116.2(EIF2B4):c.639G>C (p.Gln213His)	Leukoencephalopathy with vanishing white matter 1 [RCV004765755]\|not provided [RCV003126362]	likely pathogenic\|uncertain significance	2	27368091	27368091	Human	1	name
401940302	CV2839105	single nucleotide variant	NM_001034116.2(EIF2B4):c.620T>C (p.Met207Thr)	Leukoencephalopathy with vanishing white matter 4 [RCV003448662]	pathogenic	2	27368110	27368110	Human	1	name
11593687	CV285837	single nucleotide variant	NM_001034116.2(EIF2B4):c.961C>T (p.Arg321Cys)	Inborn genetic diseases [RCV002523130]\|Vanishing white matter disease [RCV000351370]\|not provided [RCV002263608]	uncertain significance	2	27367126	27367126	Human	3	name
11598318	CV286585	single nucleotide variant	NM_001034116.2(EIF2B4):c.311G>A (p.Arg104His)	Vanishing white matter disease [RCV000403918]	uncertain significance	2	27369113	27369113	Human	2	name
11598117	CV288818	single nucleotide variant	NM_001034116.2(EIF2B4):c.724A>G (p.Thr242Ala)	Vanishing white matter disease [RCV000401908]	uncertain significance	2	27367804	27367804	Human	2	name
11598564	CV289220	single nucleotide variant	NM_001034116.2(EIF2B4):c.938T>C (p.Val313Ala)	EIF2B4-related disorder [RCV003922449]\|Vanishing white matter disease [RCV000407563]\|not provided [RCV000883611]	benign\|likely benign\|uncertain significance	2	27367149	27367149	Human	3	name , trait , alternate_id
11593357	CV289221	single nucleotide variant	NM_001034116.2(EIF2B4):c.812C>T (p.Ala271Val)	Vanishing white matter disease [RCV000348019]	uncertain significance	2	27367530	27367530	Human	2	name
11652060	CV289222	single nucleotide variant	NM_001034116.2(EIF2B4):c.515A>C (p.Asp172Ala)	Vanishing white matter disease [RCV000302824]	uncertain significance	2	27368447	27368447	Human	2	name
405211319	CV2917234	single nucleotide variant	NM_001034116.2(EIF2B4):c.662G>A (p.Gly221Asp)	not provided [RCV003567208]	uncertain significance	2	27368068	27368068	Human		name
405080693	CV2945619	single nucleotide variant	NM_001034116.2(EIF2B4):c.508C>T (p.Arg170Ter)	not provided [RCV003664569]	pathogenic	2	27368454	27368454	Human		name
405185878	CV2963943	single nucleotide variant	NM_001034116.2(EIF2B4):c.887C>T (p.Ala296Val)	not provided [RCV003676743]	uncertain significance	2	27367200	27367200	Human		name
405223900	CV2982906	single nucleotide variant	NM_001034116.2(EIF2B4):c.637C>T (p.Gln213Ter)	not provided [RCV003681104]	pathogenic	2	27368093	27368093	Human		name
405192407	CV2989020	single nucleotide variant	NM_001034116.2(EIF2B4):c.658A>G (p.Ser220Gly)	not provided [RCV003706588]	uncertain significance	2	27368072	27368072	Human		name
405080772	CV3137135	single nucleotide variant	NM_001034116.2(EIF2B4):c.947C>G (p.Ala316Gly)	not provided [RCV003834034]	benign	2	27367140	27367140	Human		name
405259970	CV3186498	single nucleotide variant	NM_001034116.2(EIF2B4):c.310C>G (p.Arg104Gly)	not provided [RCV003884257]	uncertain significance	2	27369114	27369114	Human		name
405290415	CV3220078	single nucleotide variant	NM_001034116.2(EIF2B4):c.905C>T (p.Ala302Val)	EIF2B4-related disorder [RCV003962312]\|Inborn genetic diseases [RCV004369883]	uncertain significance	2	27367182	27367182	Human	2	name , trait , alternate_id
405718904	CV3238537	single nucleotide variant	NM_001034116.2(EIF2B4):c.314G>A (p.Arg105Gln)	Inborn genetic diseases [RCV004377732]	uncertain significance	2	27369110	27369110	Human	1	name
407428128	CV3410080	single nucleotide variant	NM_001034116.2(EIF2B4):c.818T>C (p.Met273Thr)	not specified [RCV004587688]	uncertain significance	2	27367524	27367524	Human		name
407427127	CV3410464	single nucleotide variant	NM_001034116.2(EIF2B4):c.631G>A (p.Gly211Ser)	not specified [RCV004586111]	uncertain significance	2	27368099	27368099	Human		name
407498817	CV3438096	single nucleotide variant	NM_001034116.2(EIF2B4):c.668A>G (p.Asn223Ser)	Inborn genetic diseases [RCV004622583]	uncertain significance	2	27368062	27368062	Human	1	name
408392919	CV3525397	single nucleotide variant	NM_001034116.2(EIF2B4):c.673C>T (p.Arg225Trp)	not provided [RCV004771283]	uncertain significance	2	27368057	27368057	Human		name
596943568	CV3544286	single nucleotide variant	NM_001034116.2(EIF2B4):c.731C>T (p.Pro244Leu)	Vanishing white matter disease [RCV004800766]	pathogenic	2	27367797	27367797	Human	2	name
597666960	CV3674401	single nucleotide variant	NM_001034116.2(EIF2B4):c.376C>A (p.Pro126Thr)	Inborn genetic diseases [RCV004979610]	uncertain significance	2	27369048	27369048	Human	1	name
597666968	CV3674403	single nucleotide variant	NM_001034116.2(EIF2B4):c.302G>C (p.Arg101Pro)	Inborn genetic diseases [RCV004979612]	uncertain significance	2	27369122	27369122	Human	1	name
598125930	CV3883360	single nucleotide variant	NM_001034116.2(EIF2B4):c.613C>G (p.Pro205Ala)	Leukoencephalopathy with vanishing white matter 4 [RCV005233231]	likely pathogenic	2	27368117	27368117	Human	1	name
598178989	CV3961329	single nucleotide variant	NM_001034116.2(EIF2B4):c.467G>A (p.Arg156Lys)	Inborn genetic diseases [RCV005332431]	uncertain significance	2	27368685	27368685	Human	1	name
12894291	CV405710	single nucleotide variant	NM_001034116.2(EIF2B4):c.728C>T (p.Pro243Leu)	Leukoencephalopathy with vanishing white matter 1 [RCV004787777]\|Leukoencephalopathy with vanishing white matter 4 [RCV003492070]\|Vanishing white matter disease [RCV001782965]\|not provided [RCV000482195]	pathogenic\|likely pathogenic	2	27367800	27367800	Human	5	name
12895338	CV405711	single nucleotide variant	NM_001034116.2(EIF2B4):c.626G>A (p.Arg209Gln)	Inborn genetic diseases [RCV002525826]\|Leukoencephalopathy with vanishing white matter 1 [RCV004767292]\|Leukoencephalopathy with vanishing white matter 4 [RCV005027544]\|Vanishing white matter disease [RCV000985031]\|not provided [RCV000486128]	pathogenic\|likely pathogenic\|uncertain significance	2	27368104	27368104	Human	6	name
13831715	CV582212	single nucleotide variant	NM_001034116.2(EIF2B4):c.670G>T (p.Ala224Ser)	not provided [RCV000722396]	uncertain significance	2	27368060	27368060	Human		name
40813807	CV861142	single nucleotide variant	NM_001034116.2(EIF2B4):c.866G>A (p.Ser289Asn)	Vanishing white matter disease [RCV001260956]	uncertain significance	2	27367476	27367476	Human	2	name
28894834	CV884575	single nucleotide variant	NM_001034116.2(EIF2B4):c.791C>A (p.Thr264Asn)	Vanishing white matter disease [RCV001140652]\|not provided [RCV002070685]	likely benign	2	27367551	27367551	Human	2	name
28899853	CV884576	single nucleotide variant	NM_001034116.2(EIF2B4):c.491G>A (p.Arg164His)	Vanishing white matter disease [RCV001142530]	uncertain significance	2	27368661	27368661	Human	2	name
28899857	CV884577	single nucleotide variant	NM_001034116.2(EIF2B4):c.428G>A (p.Arg143His)	Vanishing white matter disease [RCV001142531]\|not provided [RCV001858934]	uncertain significance	2	27368724	27368724	Human	2	name
28886286	CV884579	single nucleotide variant	NM_001034116.2(EIF2B4):c.335G>A (p.Arg112Gln)	Inborn genetic diseases [RCV002556934]\|Vanishing white matter disease [RCV001137760]\|not provided [RCV001300135]	uncertain significance	2	27369089	27369089	Human	3	name
39457658	CV966394	single nucleotide variant	NM_001034116.2(EIF2B4):c.551C>T (p.Pro184Leu)	Vanishing white matter disease [RCV001256671]	likely pathogenic	2	27368411	27368411	Human	2	name
41408046	CV980592	single nucleotide variant	NM_001034116.2(EIF2B4):c.866G>T (p.Ser289Ile)	Vanishing white matter disease [RCV001281377]	likely pathogenic	2	27367476	27367476	Human	2	name
151817328	CV1337419	single nucleotide variant	NM_001034116.2(EIF2B4):c.1339G>A (p.Val447Met)	not provided [RCV001919219]	uncertain significance	2	27364751	27364751	Human		name
151854191	CV1344293	single nucleotide variant	NM_001034116.2(EIF2B4):c.1438G>A (p.Ala480Thr)	not provided [RCV001923186]	uncertain significance	2	27364534	27364534	Human		name
151811367	CV1350491	single nucleotide variant	NM_001034116.2(EIF2B4):c.1448G>A (p.Arg483Gln)	Inborn genetic diseases [RCV005331159]\|not provided [RCV002048885]	uncertain significance	2	27364524	27364524	Human	1	name
151857015	CV1377534	single nucleotide variant	NM_001034116.2(EIF2B4):c.1249C>T (p.Arg417Trp)	not provided [RCV001923523]	uncertain significance	2	27364841	27364841	Human		name
151717680	CV1380546	single nucleotide variant	NM_001034116.2(EIF2B4):c.1098G>T (p.Trp366Cys)	not provided [RCV002003165]	uncertain significance	2	27366852	27366852	Human		name
151716604	CV1470678	single nucleotide variant	NM_001034116.2(EIF2B4):c.1322A>G (p.Tyr441Cys)	not provided [RCV001909062]\|not specified [RCV004770272]	uncertain significance	2	27364768	27364768	Human		name
151712406	CV1489596	single nucleotide variant	NM_001034116.2(EIF2B4):c.1201G>A (p.Val401Met)	not provided [RCV001889651]	uncertain significance	2	27364889	27364889	Human		name
152101881	CV1667155	single nucleotide variant	NM_001034116.2(EIF2B4):c.1052C>T (p.Thr351Ile)	Inborn genetic diseases [RCV004617011]\|not provided [RCV002214141]	uncertain significance	2	27366898	27366898	Human	1	name
153305697	CV1688744	single nucleotide variant	NM_001034116.2(EIF2B4):c.1346C>T (p.Thr449Ile)	not specified [RCV002266483]	uncertain significance	2	27364744	27364744	Human		name
155267429	CV1699621	single nucleotide variant	NM_001034116.2(EIF2B4):c.1567C>T (p.Gln523Ter)	not provided [RCV003774933]\|not specified [RCV002283414]	uncertain significance	2	27364405	27364405	Human		name
155719847	CV1775600	single nucleotide variant	NM_001034116.2(EIF2B4):c.1480C>T (p.Pro494Ser)	not provided [RCV002301242]	uncertain significance	2	27364492	27364492	Human		name
155800720	CV1860204	single nucleotide variant	NM_001034116.2(EIF2B4):c.1291A>G (p.Asn431Asp)	Vanishing white matter disease [RCV002466845]	uncertain significance	2	27364799	27364799	Human	2	name
156017234	CV1912921	single nucleotide variant	NM_001034116.2(EIF2B4):c.1060C>T (p.Arg354Trp)	Inborn genetic diseases [RCV004068908]\|not provided [RCV002619206]	uncertain significance	2	27366890	27366890	Human	1	name
156310565	CV1913474	single nucleotide variant	NM_001034116.2(EIF2B4):c.1061G>A (p.Arg354Gln)	not provided [RCV002599631]	uncertain significance	2	27366889	27366889	Human		name
8596299	CV19156	single nucleotide variant	NM_001034116.2(EIF2B4):c.1070G>A (p.Arg357Gln)	Leukoencephalopathy with vanishing white matter 4 [RCV003221393]\|Vanishing white matter disease [RCV005417412]	pathogenic\|likely pathogenic\|uncertain significance	2	27366880	27366880	Human	3	name
8596300	CV19157	single nucleotide variant	NM_001034116.2(EIF2B4):c.1120C>T (p.Arg374Cys)	Leukoencephalopathy with vanishing white matter 4 [RCV003221394]\|not provided [RCV001650827]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	2	27366830	27366830	Human	1	name
8596303	CV19160	single nucleotide variant	NM_001034116.2(EIF2B4):c.1393T>C (p.Cys465Arg)	Leukoencephalopathy with vanishing white matter 4 [RCV003221397]	pathogenic	2	27364579	27364579	Human	1	name
8596304	CV19161	single nucleotide variant	NM_001034116.2(EIF2B4):c.1465T>C (p.Tyr489His)	Leukoencephalopathy with vanishing white matter 4 [RCV003221398]\|Vanishing white matter disease [RCV004585985]	pathogenic\|likely pathogenic	2	27364507	27364507	Human	3	name
156358254	CV1925259	single nucleotide variant	NM_001034116.2(EIF2B4):c.1337G>A (p.Arg446His)	Vanishing white matter disease [RCV003485821]\|not provided [RCV002651445]	likely pathogenic\|uncertain significance	2	27364753	27364753	Human	2	name
156358268	CV1925260	single nucleotide variant	NM_001034116.2(EIF2B4):c.1069C>T (p.Arg357Trp)	Leukoencephalopathy with vanishing white matter 4 [RCV005028320]\|not provided [RCV002651446]	likely pathogenic\|uncertain significance	2	27366881	27366881	Human	1	name
156354100	CV2012007	single nucleotide variant	NM_001034116.2(EIF2B4):c.1072G>T (p.Val358Leu)	not provided [RCV002720399]	uncertain significance	2	27366878	27366878	Human		name
155940452	CV2038031	single nucleotide variant	NM_001034116.2(EIF2B4):c.1412T>A (p.Val471Asp)	not provided [RCV002775156]	uncertain significance	2	27364560	27364560	Human		name
156133582	CV2069274	single nucleotide variant	NM_001034116.2(EIF2B4):c.1298C>T (p.Pro433Leu)	not provided [RCV002825760]	uncertain significance	2	27364792	27364792	Human		name
155989377	CV2090634	single nucleotide variant	NM_001034116.2(EIF2B4):c.1180G>A (p.Val394Met)	not provided [RCV002882317]	uncertain significance	2	27366770	27366770	Human		name
156220878	CV2124357	single nucleotide variant	NM_001034116.2(EIF2B4):c.1165C>G (p.Pro389Ala)	Inborn genetic diseases [RCV002958137]\|not provided [RCV002958136]	uncertain significance	2	27366785	27366785	Human	1	name
156051141	CV2237922	single nucleotide variant	NM_001034116.2(EIF2B4):c.1411G>T (p.Val471Phe)	Inborn genetic diseases [RCV002782027]\|Leukoencephalopathy with vanishing white matter 4 [RCV003492812]	uncertain significance	2	27364561	27364561	Human	2	name
156074585	CV2247867	single nucleotide variant	NM_001034116.2(EIF2B4):c.1415C>A (p.Ala472Glu)	Inborn genetic diseases [RCV002797594]	uncertain significance	2	27364557	27364557	Human	1	name
155998804	CV2261020	single nucleotide variant	NM_001034116.2(EIF2B4):c.1145C>T (p.Pro382Leu)	Inborn genetic diseases [RCV002794329]	uncertain significance	2	27366805	27366805	Human	1	name
156156624	CV2314392	single nucleotide variant	NM_001034116.2(EIF2B4):c.1462G>A (p.Val488Ile)	Inborn genetic diseases [RCV002915719]	uncertain significance	2	27364510	27364510	Human	1	name
156434476	CV2402922	single nucleotide variant	NM_001034116.2(EIF2B4):c.1457A>G (p.Asn486Ser)	not provided [RCV003126360]	uncertain significance	2	27364515	27364515	Human		name
329397747	CV2456544	single nucleotide variant	NM_001034116.2(EIF2B4):c.1564G>A (p.Asp522Asn)	Inborn genetic diseases [RCV003195728]	uncertain significance	2	27364408	27364408	Human	1	name
11640479	CV271696	single nucleotide variant	NM_001034116.2(EIF2B4):c.1399C>T (p.Arg467Trp)	Leukoencephalopathy with vanishing white matter 4 [RCV005025428]\|Vanishing white matter disease [RCV000765662]\|not provided [RCV000339634]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	2	27364573	27364573	Human	3	name
401941692	CV2839103	single nucleotide variant	NM_001034116.2(EIF2B4):c.1447C>T (p.Arg483Trp)	Leukoencephalopathy with vanishing white matter 4 [RCV003448660]	pathogenic	2	27364525	27364525	Human	1	name
401941693	CV2839104	single nucleotide variant	NM_001034116.2(EIF2B4):c.1172C>A (p.Ala391Asp)	Leukoencephalopathy with vanishing white matter 4 [RCV003448661]	pathogenic	2	27366778	27366778	Human	1	name
11656176	CV288808	single nucleotide variant	NM_001034116.2(EIF2B4):c.1310G>T (p.Cys437Phe)	Vanishing white matter disease [RCV000331589]\|not provided [RCV002519965]	uncertain significance	2	27364780	27364780	Human	2	name
11662428	CV288811	single nucleotide variant	NM_001034116.2(EIF2B4):c.1136C>T (p.Ala379Val)	Vanishing white matter disease [RCV000386106]	uncertain significance	2	27366814	27366814	Human	2	name
402520108	CV3000296	single nucleotide variant	NM_001034116.2(EIF2B4):c.1030C>T (p.Arg344Ter)	not provided [RCV003716363]	pathogenic	2	27366920	27366920	Human		name
407498824	CV3438098	single nucleotide variant	NM_001034116.2(EIF2B4):c.1088G>C (p.Ser363Thr)	Inborn genetic diseases [RCV004622585]	uncertain significance	2	27366862	27366862	Human	1	name
407573073	CV3498874	single nucleotide variant	NM_001034116.2(EIF2B4):c.1183C>T (p.Leu395Phe)	Vanishing white matter disease [RCV004699843]	likely pathogenic	2	27366767	27366767	Human	2	name
597944329	CV3754991	single nucleotide variant	NM_001034116.2(EIF2B4):c.1344G>T (p.Gln448His)	not provided [RCV005078180]	uncertain significance	2	27364746	27364746	Human		name
13832301	CV582795	single nucleotide variant	NM_001034116.2(EIF2B4):c.1365T>A (p.Asn455Lys)	not provided [RCV000722988]	uncertain significance	2	27364725	27364725	Human		name
14693203	CV620082	single nucleotide variant	NM_001034116.2(EIF2B4):c.1505C>T (p.Thr502Met)	not provided [RCV004588240]	likely pathogenic\|uncertain significance	2	27364467	27364467	Human		name
28892810	CV884573	single nucleotide variant	NM_001034116.2(EIF2B4):c.1400G>A (p.Arg467Gln)	Vanishing white matter disease [RCV001139871]\|not provided [RCV001856793]\|not specified [RCV003323799]	likely benign\|uncertain significance	2	27364572	27364572	Human	2	name
28894830	CV884574	single nucleotide variant	NM_001034116.2(EIF2B4):c.1129G>C (p.Val377Leu)	Vanishing white matter disease [RCV001140651]	uncertain significance	2	27366821	27366821	Human	2	name
402481145	CV2910773	deletion	NM_001034116.2(EIF2B4):c.104_108del (p.Glu35fs)	not provided [RCV003571929]	pathogenic	2	27369517	27369521	Human		name
38457168	CV918768	microsatellite	NM_001034116.2(EIF2B4):c.138GAA[2] (p.Lys49del)	Vanishing white matter disease [RCV001196440]\|not provided [RCV001859184]	uncertain significance	2	27369479	27369481	Human		name
156408946	CV1922122	deletion	NM_001034116.2(EIF2B4):c.805_806del (p.Leu269fs)	not provided [RCV002607406]	pathogenic	2	27367536	27367537	Human		name
405204460	CV2858590	insertion	NM_001034116.2(EIF2B4):c.706-18_706-17insTGTGTAC	not provided [RCV003551764]	likely benign	2	27367839	27367840	Human		name
402474732	CV2863592	deletion	NM_001034116.2(EIF2B4):c.1331_1344del (p.Cys444fs)	not provided [RCV003543179]	pathogenic	2	27364746	27364759	Human		name
126741622	CV1019636	insertion	NM_001034116.2(EIF2B4):c.1079_1080insA (p.Val361fs)	Leukoencephalopathy with vanishing white matter [RCV001336300]	pathogenic	2	27366870	27366871	Human		name
156210698	CV1983349	deletion	NM_001034116.2(EIF2B4):c.163_177del (p.Gly55_Glu59del)	Inborn genetic diseases [RCV002604855]\|not provided [RCV002626067]	uncertain significance	2	27369448	27369462	Human	1	name
156225932	CV2097434	indel	NM_001034116.2(EIF2B4):c.1561delinsTC (p.Ser521_Asp522insTer)	not provided [RCV002894367]	uncertain significance	2	27364411	27364411	Human		name
21066931	CV795219	deletion	NM_001034116.2(EIF2B4):c.398_406del (p.Thr133_Glu136delinsLys)	Inborn genetic diseases [RCV002549961]\|Vanishing white matter disease [RCV001198435]\|not provided [RCV000997100]	uncertain significance	2	27369018	27369026	Human	3	name
405052989	CV3025718	microsatellite	NM_001034116.2(EIF2B4):c.418+18_418+19insCTTCCCTTCATTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACC	not provided [RCV003697053]	uncertain significance	2	27368987	27368988	Human		name

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