Eif2b5 Variant Search Result - Rat Genome Database

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772 records found for search term Eif2b5

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405289381	CV3218181	single nucleotide variant	NM_003907.3(EIF2B5):c.-6A>G	EIF2B5-related disorder [RCV003983583]	likely benign	3	184135380	184135380	Human		name , trait , alternate_id
28883960	CV888471	single nucleotide variant	NM_003907.3(EIF2B5):c.*90T>C	Vanishing white matter disease [RCV001150413]	uncertain significance	3	184145033	184145033	Human	2	name
11660629	CV289649	single nucleotide variant	NM_003907.2(EIF2B5):c.-203C>A	Vanishing white matter disease [RCV000368919]	uncertain significance	3	184135183	184135183	Human	2	name
11591961	CV290378	single nucleotide variant	NM_003907.2(EIF2B5):c.-153T>G	Vanishing white matter disease [RCV000334073]	uncertain significance	3	184135233	184135233	Human	2	name
11591353	CV290384	single nucleotide variant	NM_003907.2(EIF2B5):c.-103C>G	Vanishing white matter disease [RCV000328087]\|not provided [RCV004694729]	uncertain significance	3	184135283	184135283	Human	2	name
11594932	CV290387	single nucleotide variant	NM_003907.3(EIF2B5):c.*128T>C	Vanishing white matter disease [RCV000364925]\|not provided [RCV004716052]	benign\|likely benign	3	184145071	184145071	Human	2	name
11589651	CV293471	single nucleotide variant	NM_003907.2(EIF2B5):c.-313A>G	Vanishing white matter disease [RCV000311854]\|not provided [RCV001691986]	benign	3	184135073	184135073	Human	2	name
11659948	CV293485	single nucleotide variant	NM_003907.2(EIF2B5):c.-150G>C	Vanishing white matter disease [RCV000362892]	uncertain significance	3	184135236	184135236	Human	2	name
11583970	CV293488	single nucleotide variant	NM_003907.2(EIF2B5):c.-117C>T	Vanishing white matter disease [RCV000270616]	uncertain significance	3	184135269	184135269	Human	2	name
11584812	CV294002	single nucleotide variant	NM_003907.2(EIF2B5):c.-155T>C	Vanishing white matter disease [RCV000276695]	uncertain significance	3	184135231	184135231	Human	2	name
11646731	CV294057	single nucleotide variant	NM_003907.3(EIF2B5):c.*192G>A	Vanishing white matter disease [RCV000272621]	uncertain significance	3	184145135	184145135	Human	2	name
28883963	CV888472	single nucleotide variant	NM_003907.3(EIF2B5):c.*136C>T	Vanishing white matter disease [RCV001150414]	uncertain significance	3	184145079	184145079	Human	2	name
28904121	CV888473	single nucleotide variant	NM_003907.3(EIF2B5):c.*253T>C	Vanishing white matter disease [RCV001144332]	uncertain significance	3	184145196	184145196	Human	2	name
127235509	CV1070588	single nucleotide variant	NM_003907.3(EIF2B5):c.506+9G>A	not provided [RCV001414477]	likely benign	3	184137814	184137814	Human		name
127231256	CV1070593	single nucleotide variant	NM_003907.3(EIF2B5):c.766-9C>G	not provided [RCV001395208]	likely benign	3	184140071	184140071	Human		name
127238913	CV1092280	single nucleotide variant	NM_003907.3(EIF2B5):c.507-6T>A	not provided [RCV001423024]	likely benign	3	184137892	184137892	Human		name
127305553	CV1113814	single nucleotide variant	NM_003907.3(EIF2B5):c.195+7G>T	not provided [RCV001462510]	likely benign	3	184135587	184135587	Human		name
127307948	CV1113819	single nucleotide variant	NM_003907.3(EIF2B5):c.843+9A>G	not provided [RCV001463203]	likely benign	3	184140166	184140166	Human		name
127332114	CV1113820	single nucleotide variant	NM_003907.3(EIF2B5):c.844-5T>C	not provided [RCV001472026]	likely benign	3	184140413	184140413	Human		name
127337950	CV1134701	single nucleotide variant	NM_003907.3(EIF2B5):c.321-4T>G	not provided [RCV001493307]	likely benign	3	184137616	184137616	Human		name
127315153	CV1134709	single nucleotide variant	NM_003907.3(EIF2B5):c.844-6A>G	not provided [RCV001482456]	likely benign	3	184140412	184140412	Human		name
151779525	CV1352341	single nucleotide variant	NM_003907.3(EIF2B5):c.843+1G>A	not provided [RCV002009605]	likely pathogenic	3	184140158	184140158	Human		name
152087303	CV1574048	single nucleotide variant	NM_003907.3(EIF2B5):c.320+7C>A	not provided [RCV002150110]	likely benign	3	184136743	184136743	Human		name
152171651	CV1575566	single nucleotide variant	NM_003907.3(EIF2B5):c.843+8A>T	not provided [RCV002183570]	likely benign	3	184140165	184140165	Human		name
152090472	CV1580833	single nucleotide variant	NM_003907.3(EIF2B5):c.766-6C>T	not provided [RCV002094102]	likely benign	3	184140074	184140074	Human		name
152174410	CV1601898	single nucleotide variant	NM_003907.3(EIF2B5):c.685-4A>G	not provided [RCV002144428]	likely benign	3	184138162	184138162	Human		name
152156678	CV1615815	single nucleotide variant	NM_003907.3(EIF2B5):c.195+9C>A	not provided [RCV002158945]	likely benign	3	184135589	184135589	Human		name
155944728	CV2032614	single nucleotide variant	NM_003907.3(EIF2B5):c.684+7G>A	not provided [RCV002730336]	likely benign	3	184138082	184138082	Human		name
156216512	CV2176673	single nucleotide variant	NM_003907.3(EIF2B5):c.196-8T>C	not provided [RCV003025022]	likely benign	3	184136604	184136604	Human		name
156096112	CV2183565	single nucleotide variant	NM_003907.3(EIF2B5):c.685-4A>C	not provided [RCV003054547]	likely benign	3	184138162	184138162	Human		name
405135422	CV2896921	single nucleotide variant	NM_003907.3(EIF2B5):c.844-6A>T	not provided [RCV003560405]	likely benign	3	184140412	184140412	Human		name
405118454	CV2997452	single nucleotide variant	NM_003907.3(EIF2B5):c.196-9A>G	not provided [RCV003723615]	likely benign	3	184136603	184136603	Human		name
405000667	CV3005316	single nucleotide variant	NM_003907.3(EIF2B5):c.844-9C>T	not provided [RCV003693090]	likely benign	3	184140409	184140409	Human		name
405236109	CV3168975	single nucleotide variant	NM_003907.3(EIF2B5):c.506+7A>G	not provided [RCV003866254]	likely benign	3	184137812	184137812	Human		name
597716023	CV3721204	single nucleotide variant	NM_003907.3(EIF2B5):c.320+2T>C	Leukoencephalopathy with vanishing white matter 5 [RCV005035197]	likely pathogenic	3	184136738	184136738	Human	1	name
597842792	CV3779753	single nucleotide variant	NM_003907.3(EIF2B5):c.195+2T>G	not provided [RCV005116282]	likely pathogenic	3	184135582	184135582	Human		name
15153703	CV759257	single nucleotide variant	NM_003907.3(EIF2B5):c.320+9C>T	Vanishing white matter disease [RCV001825864]\|not provided [RCV000924109]	benign\|likely benign	3	184136745	184136745	Human	2	name
15137017	CV774945	single nucleotide variant	NM_003907.3(EIF2B5):c.844-7C>T	not provided [RCV000943169]	likely benign	3	184140411	184140411	Human		name
15119097	CV787257	single nucleotide variant	NM_003907.3(EIF2B5):c.196-9A>C	Vanishing white matter disease [RCV001832265]\|not provided [RCV000979061]	likely benign	3	184136603	184136603	Human	2	name
28903826	CV891625	single nucleotide variant	NM_003907.3(EIF2B5):c.506+6G>C	Vanishing white matter disease [RCV001144204]	uncertain significance	3	184137811	184137811	Human	2	name
28872023	CV891626	single nucleotide variant	NM_003907.3(EIF2B5):c.684+3G>A	Vanishing white matter disease [RCV001146099]	uncertain significance	3	184138078	184138078	Human	2	name
38486540	CV939934	single nucleotide variant	NM_003907.3(EIF2B5):c.195+1G>T	not provided [RCV001208938]	likely pathogenic	3	184135581	184135581	Human		name
127230142	CV1070597	single nucleotide variant	NM_003907.3(EIF2B5):c.1302+8C>T	EIF2B5-related disorder [RCV004756233]\|not provided [RCV001394590]	likely benign	3	184142078	184142078	Human	1	name , trait , alternate_id
127276950	CV1070600	single nucleotide variant	NM_003907.3(EIF2B5):c.1445-6T>C	not provided [RCV001407469]	likely benign	3	184142496	184142496	Human		name
127234162	CV1070606	single nucleotide variant	NM_003907.3(EIF2B5):c.1995+9G>T	not provided [RCV001396378]	likely benign	3	184144233	184144233	Human		name
127264863	CV1070607	single nucleotide variant	NM_003907.3(EIF2B5):c.2106+7C>T	not provided [RCV001403429]	likely benign	3	184144714	184144714	Human		name
127263401	CV1092288	single nucleotide variant	NM_003907.3(EIF2B5):c.1870-4A>C	not provided [RCV001428554]	likely benign	3	184144095	184144095	Human		name
127331688	CV1113825	single nucleotide variant	NM_003907.3(EIF2B5):c.1445-4C>G	not provided [RCV001471730]	likely benign	3	184142498	184142498	Human		name
127304639	CV1113828	single nucleotide variant	NM_003907.3(EIF2B5):c.1869+9A>G	not provided [RCV001462309]	likely benign	3	184143574	184143574	Human		name
127301361	CV1113833	single nucleotide variant	NM_003907.3(EIF2B5):c.2107-9T>G	not provided [RCV001461381]	likely benign	3	184144875	184144875	Human		name
127312667	CV1134706	single nucleotide variant	NM_003907.3(EIF2B5):c.685-10C>T	not provided [RCV001481732]	likely benign	3	184138156	184138156	Human		name
127296848	CV1134713	single nucleotide variant	NM_003907.3(EIF2B5):c.1156+8C>T	not provided [RCV001497620]	likely benign	3	184140738	184140738	Human		name
127297838	CV1134714	single nucleotide variant	NM_003907.3(EIF2B5):c.1156+9A>T	not provided [RCV001497860]	likely benign	3	184140739	184140739	Human		name
127289195	CV1134716	single nucleotide variant	NM_003907.3(EIF2B5):c.1303-9T>C	not provided [RCV001495552]	likely benign	3	184142228	184142228	Human		name
150486794	CV1251415	single nucleotide variant	NM_003907.3(EIF2B5):c.843+86A>G	not provided [RCV001674086]	benign	3	184140243	184140243	Human		name
150453974	CV1276922	single nucleotide variant	NM_003907.3(EIF2B5):c.196-82G>T	not provided [RCV001708713]	benign	3	184136530	184136530	Human		name
151880093	CV1359977	single nucleotide variant	NM_003907.3(EIF2B5):c.1654+1G>T	not provided [RCV002036747]	likely pathogenic	3	184142887	184142887	Human		name
151886130	CV1367276	single nucleotide variant	NM_003907.3(EIF2B5):c.2106+4C>T	not provided [RCV002000623]	uncertain significance	3	184144711	184144711	Human		name
152128596	CV1549069	single nucleotide variant	NM_003907.3(EIF2B5):c.1655-9T>C	not provided [RCV002099173]	likely benign	3	184143043	184143043	Human		name
152067867	CV1588936	single nucleotide variant	NM_003907.3(EIF2B5):c.1870-9C>T	not provided [RCV002209589]	likely benign	3	184144090	184144090	Human		name
152087594	CV1601270	single nucleotide variant	NM_003907.3(EIF2B5):c.766-15A>G	not provided [RCV002093712]	likely benign	3	184140065	184140065	Human		name
152084472	CV1617057	single nucleotide variant	NM_003907.3(EIF2B5):c.1547-7T>C	not provided [RCV002076803]	likely benign	3	184142772	184142772	Human		name
152136198	CV1624818	single nucleotide variant	NM_003907.3(EIF2B5):c.1996-7T>C	not provided [RCV002177451]	likely benign	3	184144590	184144590	Human		name
156005045	CV1873750	duplication	NM_003907.3(EIF2B5):c.1303-9dup	not provided [RCV003076779]	benign	3	184142220	184142221	Human		name
156387016	CV1875100	single nucleotide variant	NM_003907.3(EIF2B5):c.321-16C>T	not provided [RCV003050945]	likely benign	3	184137604	184137604	Human		name
156277707	CV1880740	single nucleotide variant	NM_003907.3(EIF2B5):c.1547-9G>A	not provided [RCV003060953]	likely benign	3	184142770	184142770	Human		name
156291194	CV1881853	single nucleotide variant	NM_003907.3(EIF2B5):c.844-15T>C	not provided [RCV003061467]	likely benign	3	184140403	184140403	Human		name
156292082	CV1887115	deletion	NM_003907.3(EIF2B5):c.843+18del	not provided [RCV003087527]	likely benign	3	184140174	184140174	Human		name
156281935	CV1896848	single nucleotide variant	NM_003907.3(EIF2B5):c.1445-5T>C	not provided [RCV003087148]	likely benign	3	184142497	184142497	Human		name
156380367	CV1899690	single nucleotide variant	NM_003907.3(EIF2B5):c.2106+5G>A	not provided [RCV003093222]	uncertain significance	3	184144712	184144712	Human		name
156058140	CV1974668	single nucleotide variant	NM_003907.3(EIF2B5):c.1444+9C>T	not provided [RCV002590883]	likely benign	3	184142387	184142387	Human		name
156288863	CV1998048	single nucleotide variant	NM_003907.3(EIF2B5):c.766-14C>T	not provided [RCV002647113]	likely benign	3	184140066	184140066	Human		name
156038948	CV1998921	single nucleotide variant	NM_003907.3(EIF2B5):c.1870-3T>C	not provided [RCV002658958]	uncertain significance	3	184144096	184144096	Human		name
156195475	CV2018190	single nucleotide variant	NM_003907.3(EIF2B5):c.1745+6A>G	not provided [RCV002700097]	uncertain significance	3	184143148	184143148	Human		name
156133231	CV2022830	single nucleotide variant	NM_003907.3(EIF2B5):c.321-10C>A	not provided [RCV002740641]	likely benign	3	184137610	184137610	Human		name
156173459	CV2053469	single nucleotide variant	NM_003907.3(EIF2B5):c.1156+7A>G	not provided [RCV002802020]	likely benign	3	184140737	184140737	Human		name
156302514	CV2070011	single nucleotide variant	NM_003907.3(EIF2B5):c.843+10G>C	not provided [RCV002833689]	likely benign	3	184140167	184140167	Human		name
155941363	CV2075962	single nucleotide variant	NM_003907.3(EIF2B5):c.843+10G>A	not provided [RCV002861803]	likely benign	3	184140167	184140167	Human		name
156312960	CV2087524	single nucleotide variant	NM_003907.3(EIF2B5):c.1302+7C>A	not provided [RCV002857773]	likely benign	3	184142077	184142077	Human		name
156040862	CV2187916	single nucleotide variant	NM_003907.3(EIF2B5):c.1445-9C>T	not provided [RCV003036563]	likely benign	3	184142493	184142493	Human		name
401907865	CV2805421	single nucleotide variant	NM_003907.3(EIF2B5):c.320+68C>G	Leukoencephalopathy with vanishing white matter 5 [RCV003412552]	uncertain significance	3	184136804	184136804	Human	1	name
402492790	CV2863025	single nucleotide variant	NM_003907.3(EIF2B5):c.1870-5C>T	not provided [RCV003573061]	likely benign	3	184144094	184144094	Human		name
405080928	CV2864738	single nucleotide variant	NM_003907.3(EIF2B5):c.1745+7G>A	not provided [RCV003549225]	likely benign	3	184143149	184143149	Human		name
405225268	CV2885643	single nucleotide variant	NM_003907.3(EIF2B5):c.685-12T>C	not provided [RCV003554471]	likely benign	3	184138154	184138154	Human		name
405228964	CV2894509	single nucleotide variant	NM_003907.3(EIF2B5):c.684+14T>C	not provided [RCV003555045]	likely benign	3	184138089	184138089	Human		name
405163241	CV2895576	single nucleotide variant	NM_003907.3(EIF2B5):c.843+15C>T	not provided [RCV003562543]	likely benign	3	184140172	184140172	Human		name
11590593	CV289663	microsatellite	NM_003907.3(EIF2B5):c.*354AG[3]	Vanishing white matter disease [RCV000320739]	benign	3	184145297	184145298	Human		name
405231079	CV2899894	deletion	NM_003907.3(EIF2B5):c.1303-9del	not provided [RCV003555529]	benign	3	184142221	184142221	Human		name
402523192	CV2900251	single nucleotide variant	NM_003907.3(EIF2B5):c.1745+8C>A	EIF2B5-related disorder [RCV004731549]\|not provided [RCV003576017]	likely benign	3	184143150	184143150	Human	1	name , trait , alternate_id
405174450	CV2907868	single nucleotide variant	NM_003907.3(EIF2B5):c.507-15T>C	not provided [RCV003563367]	likely benign	3	184137883	184137883	Human		name
405202619	CV2915046	single nucleotide variant	NM_003907.3(EIF2B5):c.195+14A>C	not provided [RCV003566099]	likely benign	3	184135594	184135594	Human		name
405193292	CV2925520	single nucleotide variant	NM_003907.3(EIF2B5):c.684+17G>A	not provided [RCV003565110]	likely benign	3	184138092	184138092	Human		name
402485767	CV2931497	single nucleotide variant	NM_003907.3(EIF2B5):c.685-20C>T	not provided [RCV003572427]	likely benign	3	184138146	184138146	Human		name
405100428	CV2938243	single nucleotide variant	NM_003907.3(EIF2B5):c.195+20G>A	not provided [RCV003665874]	likely benign	3	184135600	184135600	Human		name
405113400	CV2939168	single nucleotide variant	NM_003907.3(EIF2B5):c.1546+1G>A	not provided [RCV003666610]	likely pathogenic	3	184142604	184142604	Human		name
405072055	CV2941105	single nucleotide variant	NM_003907.3(EIF2B5):c.195+14A>T	not provided [RCV003664038]	likely benign	3	184135594	184135594	Human		name
402513649	CV2943007	single nucleotide variant	NM_003907.3(EIF2B5):c.1444+2T>C	not provided [RCV003662768]	likely pathogenic	3	184142380	184142380	Human		name
405083906	CV2946421	single nucleotide variant	NM_003907.3(EIF2B5):c.766-20A>C	not provided [RCV003664815]	likely benign	3	184140060	184140060	Human		name
405114616	CV2956876	single nucleotide variant	NM_003907.3(EIF2B5):c.1655-7A>C	not provided [RCV003666765]	likely benign	3	184143045	184143045	Human		name
405172196	CV2961445	single nucleotide variant	NM_003907.3(EIF2B5):c.684+15G>A	not provided [RCV003675509]	likely benign	3	184138090	184138090	Human		name
405242737	CV2967428	single nucleotide variant	NM_003907.3(EIF2B5):c.507-18C>T	not provided [RCV003684424]	likely benign	3	184137880	184137880	Human		name
405192018	CV2984922	single nucleotide variant	NM_003907.3(EIF2B5):c.1546+9G>C	not provided [RCV003706552]	likely benign	3	184142612	184142612	Human		name
404984013	CV2989528	single nucleotide variant	NM_003907.3(EIF2B5):c.766-16C>T	not provided [RCV003691510]	likely benign	3	184140064	184140064	Human		name
405116880	CV2992890	single nucleotide variant	NM_003907.3(EIF2B5):c.765+20G>A	not provided [RCV003723456]	likely benign	3	184138266	184138266	Human		name
404990971	CV2995121	single nucleotide variant	NM_003907.3(EIF2B5):c.1546+2T>C	not provided [RCV003692280]	likely pathogenic	3	184142605	184142605	Human		name
405015940	CV2995276	single nucleotide variant	NM_003907.3(EIF2B5):c.2106+8A>G	not provided [RCV003694340]	likely benign	3	184144715	184144715	Human		name
402520799	CV3002412	single nucleotide variant	NM_003907.3(EIF2B5):c.320+20C>T	not provided [RCV003690186]	likely benign	3	184136756	184136756	Human		name
404978510	CV3013081	single nucleotide variant	NM_003907.3(EIF2B5):c.2107-5T>C	not provided [RCV003690825]	likely benign	3	184144879	184144879	Human		name
405242770	CV3042825	single nucleotide variant	NM_003907.3(EIF2B5):c.765+18G>A	not provided [RCV003719495]	likely benign	3	184138264	184138264	Human		name
405089945	CV3044728	duplication	NM_003907.3(EIF2B5):c.843+18dup	not provided [RCV003717747]	likely benign	3	184140173	184140174	Human		name
405244961	CV3054839	single nucleotide variant	NM_003907.3(EIF2B5):c.765+16C>T	not provided [RCV003720146]	likely benign	3	184138262	184138262	Human		name
405254348	CV3055263	single nucleotide variant	NM_003907.3(EIF2B5):c.766-18T>G	not provided [RCV003722971]	likely benign	3	184140062	184140062	Human		name
405222865	CV3056949	single nucleotide variant	NM_003907.3(EIF2B5):c.507-11G>A	not provided [RCV003733502]	likely benign	3	184137887	184137887	Human		name
405224616	CV3058172	single nucleotide variant	NM_003907.3(EIF2B5):c.195+14A>G	not provided [RCV003733830]	likely benign	3	184135594	184135594	Human		name
405160694	CV3062467	single nucleotide variant	NM_003907.3(EIF2B5):c.321-18C>T	not provided [RCV003727076]	likely benign	3	184137602	184137602	Human		name
405232023	CV3070742	single nucleotide variant	NM_003907.3(EIF2B5):c.195+16G>T	not provided [RCV003735005]	likely benign	3	184135596	184135596	Human		name
405046461	CV3071651	single nucleotide variant	NM_003907.3(EIF2B5):c.844-13C>T	not provided [RCV003740286]	likely benign	3	184140405	184140405	Human		name
405231087	CV3073422	single nucleotide variant	NM_003907.3(EIF2B5):c.684+18G>A	not provided [RCV003734866]	likely benign	3	184138093	184138093	Human		name
405002104	CV3120604	single nucleotide variant	NM_003907.3(EIF2B5):c.1303-5C>G	not provided [RCV003828206]	likely benign	3	184142232	184142232	Human		name
405064386	CV3139709	single nucleotide variant	NM_003907.3(EIF2B5):c.766-11C>T	not provided [RCV003833056]	likely benign	3	184140069	184140069	Human		name
405222964	CV3155015	single nucleotide variant	NM_003907.3(EIF2B5):c.684+12T>A	not provided [RCV003847511]	likely benign	3	184138087	184138087	Human		name
405192517	CV3157198	single nucleotide variant	NM_003907.3(EIF2B5):c.196-11G>A	not provided [RCV003859886]	likely benign	3	184136601	184136601	Human		name
405251586	CV3177415	single nucleotide variant	NM_003907.3(EIF2B5):c.507-19T>A	not provided [RCV003870373]	likely benign	3	184137879	184137879	Human		name
597637839	CV3721208	single nucleotide variant	NM_003907.3(EIF2B5):c.1746-1G>T	Leukoencephalopathy with vanishing white matter 5 [RCV005024549]	likely pathogenic	3	184143441	184143441	Human	1	name
597874118	CV3747423	single nucleotide variant	NM_003907.3(EIF2B5):c.1157-4C>T	not provided [RCV005069107]	likely benign	3	184141921	184141921	Human		name
597942214	CV3757492	single nucleotide variant	NM_003907.3(EIF2B5):c.506+17G>A	not provided [RCV005077678]	likely benign	3	184137822	184137822	Human		name
597840844	CV3765041	single nucleotide variant	NM_003907.3(EIF2B5):c.320+17T>C	not provided [RCV005115057]	likely benign	3	184136753	184136753	Human		name
597854692	CV3778903	single nucleotide variant	NM_003907.3(EIF2B5):c.1746-8C>A	not provided [RCV005129248]	uncertain significance	3	184143434	184143434	Human		name
597877682	CV3796728	single nucleotide variant	NM_003907.3(EIF2B5):c.684+19T>C	not provided [RCV005152811]	likely benign	3	184138094	184138094	Human		name
597868429	CV3801183	single nucleotide variant	NM_003907.3(EIF2B5):c.1156+1G>A	not provided [RCV005143378]	likely pathogenic	3	184140731	184140731	Human		name
597899634	CV3822086	single nucleotide variant	NM_003907.3(EIF2B5):c.1995+7A>G	not provided [RCV005174384]	likely benign	3	184144231	184144231	Human		name
597904065	CV3834960	single nucleotide variant	NM_003907.3(EIF2B5):c.1303-6C>G	not provided [RCV005178684]	likely benign	3	184142231	184142231	Human		name
15184729	CV730198	single nucleotide variant	NM_003907.3(EIF2B5):c.1870-5C>A	Vanishing white matter disease [RCV001273459]\|not provided [RCV000886513]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	184144094	184144094	Human	2	name
15165321	CV759234	single nucleotide variant	NM_003907.3(EIF2B5):c.1303-8C>T	not provided [RCV000926595]	likely benign	3	184142229	184142229	Human		name
15125388	CV787154	single nucleotide variant	NM_003907.3(EIF2B5):c.1870-4A>G	not provided [RCV000980189]	likely benign	3	184144095	184144095	Human		name
38497411	CV960509	single nucleotide variant	NM_003907.3(EIF2B5):c.1302+1G>T	not provided [RCV001243155]	likely pathogenic	3	184142071	184142071	Human		name
8641298	CV100282	single nucleotide variant	NM_003907.3(EIF2B5):c.2106+31T>C	not provided [RCV000080354]	uncertain significance	3	184144738	184144738	Human		name
127289439	CV1113824	single nucleotide variant	NM_003907.3(EIF2B5):c.1445-10C>G	not provided [RCV001450905]	likely benign\|conflicting interpretations of pathogenicity	3	184142492	184142492	Human		name
150426326	CV1186560	single nucleotide variant	NM_003907.3(EIF2B5):c.1302+11A>T	not provided [RCV001559431]	likely benign	3	184142081	184142081	Human		name
150470269	CV1259796	single nucleotide variant	NM_003907.3(EIF2B5):c.766-235A>G	not provided [RCV001684098]	benign	3	184139845	184139845	Human		name
151743061	CV1431014	single nucleotide variant	NM_003907.3(EIF2B5):c.1546+11C>T	not provided [RCV001893463]	likely benign\|uncertain significance	3	184142614	184142614	Human		name
152055909	CV1522949	single nucleotide variant	NM_003907.3(EIF2B5):c.1745+10G>A	not provided [RCV002167429]	likely benign	3	184143152	184143152	Human		name
152036228	CV1553202	single nucleotide variant	NM_003907.3(EIF2B5):c.1870-13C>G	not provided [RCV002187543]	likely benign	3	184144086	184144086	Human		name
152067543	CV1566882	single nucleotide variant	NM_003907.3(EIF2B5):c.2107-10T>C	not provided [RCV002091134]	likely benign	3	184144874	184144874	Human		name
152108213	CV1623393	single nucleotide variant	NM_003907.3(EIF2B5):c.1655-18T>C	not provided [RCV002215108]	likely benign	3	184143034	184143034	Human		name
152098294	CV1627047	single nucleotide variant	NM_003907.3(EIF2B5):c.2107-12G>C	not provided [RCV002095163]	likely benign	3	184144872	184144872	Human		name
152099053	CV1627186	single nucleotide variant	NM_003907.3(EIF2B5):c.2106+10G>A	not provided [RCV002095267]	likely benign	3	184144717	184144717	Human		name
156220649	CV1879240	single nucleotide variant	NM_003907.3(EIF2B5):c.1655-11T>C	not provided [RCV003058922]	likely benign	3	184143041	184143041	Human		name
156386464	CV1891877	single nucleotide variant	NM_003907.3(EIF2B5):c.1995+19C>T	not provided [RCV003067600]	likely benign	3	184144243	184144243	Human		name
156363383	CV1901411	single nucleotide variant	NM_003907.3(EIF2B5):c.1547-12A>C	not provided [RCV002602653]	likely benign	3	184142767	184142767	Human		name
156317279	CV1910468	single nucleotide variant	NM_003907.3(EIF2B5):c.1995+20C>T	not provided [RCV002600020]	likely benign	3	184144244	184144244	Human		name
156302331	CV1934479	single nucleotide variant	NM_003907.3(EIF2B5):c.1445-11G>A	not provided [RCV002647705]	likely benign	3	184142491	184142491	Human		name
156334104	CV1966727	single nucleotide variant	NM_003907.3(EIF2B5):c.1445-18G>A	not provided [RCV002600944]	likely benign	3	184142484	184142484	Human		name
156253702	CV1967320	single nucleotide variant	NM_003907.3(EIF2B5):c.1157-15C>T	not provided [RCV002597554]	likely benign\|uncertain significance	3	184141910	184141910	Human		name
156337623	CV1988449	single nucleotide variant	NM_003907.3(EIF2B5):c.1745+12C>G	not provided [RCV002631267]	likely benign	3	184143154	184143154	Human		name
156401943	CV1992276	single nucleotide variant	NM_003907.3(EIF2B5):c.1746-17C>T	not provided [RCV002605691]	likely benign	3	184143425	184143425	Human		name
156175941	CV2000392	single nucleotide variant	NM_003907.3(EIF2B5):c.2106+20T>C	not provided [RCV002642871]	likely benign	3	184144727	184144727	Human		name
156032198	CV2078934	single nucleotide variant	NM_003907.3(EIF2B5):c.1745+11C>G	not provided [RCV002867100]	likely benign	3	184143153	184143153	Human		name
405084705	CV2865833	single nucleotide variant	NM_003907.3(EIF2B5):c.1302+14T>A	not provided [RCV003549483]	likely benign	3	184142084	184142084	Human		name
405231164	CV2895668	deletion	NM_003907.3(EIF2B5):c.1995+21del	not provided [RCV003555544]	likely benign	3	184144242	184144242	Human		name
405231960	CV2896206	single nucleotide variant	NM_003907.3(EIF2B5):c.1547-13T>A	not provided [RCV003555667]	likely benign	3	184142766	184142766	Human		name
405232830	CV2906461	single nucleotide variant	NM_003907.3(EIF2B5):c.1303-15T>C	not provided [RCV003555791]	likely benign	3	184142222	184142222	Human		name
405208169	CV2909169	single nucleotide variant	NM_003907.3(EIF2B5):c.1547-12A>G	not provided [RCV003566753]	likely benign	3	184142767	184142767	Human		name
405175989	CV2915649	single nucleotide variant	NM_003907.3(EIF2B5):c.1444+11C>T	not provided [RCV003563540]	likely benign	3	184142389	184142389	Human		name
405174696	CV2919335	single nucleotide variant	NM_003907.3(EIF2B5):c.1547-17C>A	not provided [RCV003563435]	likely benign	3	184142762	184142762	Human		name
11598234	CV293489	single nucleotide variant	NM_003907.3(EIF2B5):c.2107-15T>C	Vanishing white matter disease [RCV000403221]\|not provided [RCV002061230]	likely benign\|uncertain significance	3	184144869	184144869	Human	2	name
11589051	CV293490	single nucleotide variant	NM_003907.3(EIF2B5):c.2107-14C>T	Vanishing white matter disease [RCV000307960]\|not provided [RCV002520115]	likely benign\|uncertain significance	3	184144870	184144870	Human	2	name
405155767	CV2949528	single nucleotide variant	NM_003907.3(EIF2B5):c.1546+14G>C	not provided [RCV003674323]	likely benign	3	184142617	184142617	Human		name
405132959	CV2950131	single nucleotide variant	NM_003907.3(EIF2B5):c.1156+17A>T	not provided [RCV003672570]	likely benign	3	184140747	184140747	Human		name
405135685	CV2958080	single nucleotide variant	NM_003907.3(EIF2B5):c.1995+11C>T	not provided [RCV003672796]	likely benign	3	184144235	184144235	Human		name
405131560	CV2959096	single nucleotide variant	NM_003907.3(EIF2B5):c.1654+13G>A	not provided [RCV003668424]	likely benign	3	184142899	184142899	Human		name
404986644	CV2979659	single nucleotide variant	NM_003907.3(EIF2B5):c.1654+20T>C	not provided [RCV003691732]	likely benign	3	184142906	184142906	Human		name
405240169	CV2993653	single nucleotide variant	NM_003907.3(EIF2B5):c.1996-17T>G	not provided [RCV003719028]	likely benign	3	184144580	184144580	Human		name
405165324	CV3022549	single nucleotide variant	NM_003907.3(EIF2B5):c.2107-19C>T	not provided [RCV003704220]	likely benign	3	184144865	184144865	Human		name
405252382	CV3047197	single nucleotide variant	NM_003907.3(EIF2B5):c.1654+16G>A	not provided [RCV003722193]	likely benign	3	184142902	184142902	Human		name
405202958	CV3052781	single nucleotide variant	NM_003907.3(EIF2B5):c.1547-20C>T	not provided [RCV003730969]	likely benign	3	184142759	184142759	Human		name
405240368	CV3060762	single nucleotide variant	NM_003907.3(EIF2B5):c.1157-20G>A	not provided [RCV003737136]	likely benign	3	184141905	184141905	Human		name
405160553	CV3062443	single nucleotide variant	NM_003907.3(EIF2B5):c.1745+19T>C	not provided [RCV003727065]	likely benign	3	184143161	184143161	Human		name
405042127	CV3064173	single nucleotide variant	NM_003907.3(EIF2B5):c.1654+11G>A	not provided [RCV003740003]	likely benign	3	184142897	184142897	Human		name
405243772	CV3074809	single nucleotide variant	NM_003907.3(EIF2B5):c.1303-11T>C	not provided [RCV003737748]	likely benign	3	184142226	184142226	Human		name
405246082	CV3075724	single nucleotide variant	NM_003907.3(EIF2B5):c.1746-15C>G	not provided [RCV003738636]	likely benign	3	184143427	184143427	Human		name
405024869	CV3075969	single nucleotide variant	NM_003907.3(EIF2B5):c.1746-19C>T	not provided [RCV003738704]	likely benign	3	184143423	184143423	Human		name
405033620	CV3077691	single nucleotide variant	NM_003907.3(EIF2B5):c.1547-17C>T	not provided [RCV003739202]	likely benign	3	184142762	184142762	Human		name
405026402	CV3079312	single nucleotide variant	NM_003907.3(EIF2B5):c.1745+13C>T	not provided [RCV003738819]	likely benign	3	184143155	184143155	Human		name
405235876	CV3079436	single nucleotide variant	NM_003907.3(EIF2B5):c.1995+14C>G	not provided [RCV003735827]	likely benign	3	184144238	184144238	Human		name
405062448	CV3148420	single nucleotide variant	NM_003907.3(EIF2B5):c.1445-14A>G	not provided [RCV003850376]	likely benign	3	184142488	184142488	Human		name
405172037	CV3151754	single nucleotide variant	NM_003907.3(EIF2B5):c.1869+12T>C	not provided [RCV003857905]	likely benign	3	184143577	184143577	Human		name
405234605	CV3155552	single nucleotide variant	NM_003907.3(EIF2B5):c.1546+18C>G	not provided [RCV003853530]	likely benign	3	184142621	184142621	Human		name
405129982	CV3163390	deletion	NM_003907.3(EIF2B5):c.1745+14del	not provided [RCV003854571]	benign	3	184143153	184143153	Human		name
402468417	CV3174332	duplication	NM_003907.3(EIF2B5):c.1654+14dup	not provided [RCV003873615]	benign	3	184142896	184142897	Human		name
597844931	CV3771832	single nucleotide variant	NM_003907.3(EIF2B5):c.1157-18C>G	not provided [RCV005120358]	likely benign	3	184141907	184141907	Human		name
597871399	CV3816619	single nucleotide variant	NM_003907.3(EIF2B5):c.1302+18C>T	not provided [RCV005146192]	likely benign	3	184142088	184142088	Human		name
597896889	CV3824971	single nucleotide variant	NM_003907.3(EIF2B5):c.1303-20T>C	not provided [RCV005171835]	likely benign	3	184142217	184142217	Human		name
597894269	CV3832327	single nucleotide variant	NM_003907.3(EIF2B5):c.1302+20G>C	not provided [RCV005169064]	likely benign	3	184142090	184142090	Human		name
597914850	CV3846868	single nucleotide variant	NM_003907.3(EIF2B5):c.1445-20T>C	not provided [RCV005190039]	likely benign	3	184142482	184142482	Human		name
28883956	CV891627	single nucleotide variant	NM_003907.3(EIF2B5):c.2107-12G>A	Vanishing white matter disease [RCV001150412]\|not provided [RCV002559448]	likely benign\|uncertain significance	3	184144872	184144872	Human	2	name
150507341	CV1211152	single nucleotide variant	NM_003907.3(EIF2B5):c.1745+134A>G	not provided [RCV001596270]	benign	3	184143276	184143276	Human		name
150454301	CV1219955	single nucleotide variant	NM_003907.3(EIF2B5):c.1156+197T>C	not provided [RCV001612337]	benign	3	184140927	184140927	Human		name
150471873	CV1252152	single nucleotide variant	NM_003907.3(EIF2B5):c.1870-137A>C	not provided [RCV001671353]	benign	3	184143962	184143962	Human		name
150458311	CV1259024	single nucleotide variant	NM_003907.3(EIF2B5):c.1746-143C>T	not provided [RCV001681743]	benign	3	184143299	184143299	Human		name
152138131	CV1525437	microsatellite	NM_003907.3(EIF2B5):c.321-7_321-4del	not provided [RCV002137823]	likely benign	3	184137609	184137612	Human		name
402493710	CV2887149	single nucleotide variant	NM_003907.3(EIF2B5):c.6G>A (p.Ala2=)	not provided [RCV003573275]	likely benign	3	184135391	184135391	Human		name
405250527	CV3052938	deletion	NM_003907.3(EIF2B5):c.196-5_196-4del	not provided [RCV003721644]	likely benign	3	184136607	184136608	Human		name
127275135	CV1092273	single nucleotide variant	NM_003907.3(EIF2B5):c.12T>C (p.Pro4=)	not provided [RCV001432190]	likely benign	3	184135397	184135397	Human		name
127239156	CV1092274	single nucleotide variant	NM_003907.3(EIF2B5):c.27T>G (p.Pro9=)	not provided [RCV001423069]	likely benign	3	184135412	184135412	Human		name
152092254	CV1596094	single nucleotide variant	NM_003907.3(EIF2B5):c.24G>T (p.Pro8=)	not provided [RCV002077868]	likely benign	3	184135409	184135409	Human		name
156140458	CV1921775	single nucleotide variant	NM_003907.3(EIF2B5):c.15A>G (p.Val5=)	not provided [RCV002623641]	likely benign	3	184135400	184135400	Human		name
155956718	CV2033457	single nucleotide variant	NM_003907.3(EIF2B5):c.21G>C (p.Ala7=)	not provided [RCV002730965]	likely benign	3	184135406	184135406	Human		name
156039272	CV2150427	single nucleotide variant	NM_003907.3(EIF2B5):c.18G>A (p.Val6=)	not provided [RCV003018994]	likely benign	3	184135403	184135403	Human		name
402476027	CV2857175	single nucleotide variant	NM_003907.3(EIF2B5):c.21G>A (p.Ala7=)	not provided [RCV003543387]	likely benign	3	184135406	184135406	Human		name
405202786	CV2915084	deletion	NM_003907.3(EIF2B5):c.1868_1869+10del	not provided [RCV003566117]	likely pathogenic	3	184143564	184143575	Human		name
405163178	CV2960492	single nucleotide variant	NM_003907.3(EIF2B5):c.24G>A (p.Pro8=)	not provided [RCV003674832]	likely benign	3	184135409	184135409	Human		name
127251917	CV1055324	single nucleotide variant	NM_003907.3(EIF2B5):c.3G>C (p.Met1Ile)	not provided [RCV001378649]	likely pathogenic	3	184135388	184135388	Human		name
127238830	CV1070583	single nucleotide variant	NM_003907.3(EIF2B5):c.66G>T (p.Ala22=)	not provided [RCV001392543]	likely benign	3	184135451	184135451	Human		name
127260635	CV1092275	single nucleotide variant	NM_003907.3(EIF2B5):c.57C>T (p.Arg19=)	not provided [RCV001427906]	likely benign	3	184135442	184135442	Human		name
127336838	CV1113811	single nucleotide variant	NM_003907.3(EIF2B5):c.75A>G (p.Gly25=)	not provided [RCV001475252]	likely benign	3	184135460	184135460	Human		name
127330548	CV1113812	single nucleotide variant	NM_003907.3(EIF2B5):c.84T>A (p.Gly28=)	not provided [RCV001470922]	likely benign	3	184135469	184135469	Human		name
152149111	CV1616712	single nucleotide variant	NM_003907.3(EIF2B5):c.87C>A (p.Gly29=)	not provided [RCV002201691]	likely benign	3	184135472	184135472	Human		name
152052156	CV1617351	microsatellite	NM_003907.3(EIF2B5):c.2107-8_2107-6del	not provided [RCV002072514]	likely benign	3	184144873	184144875	Human		name
152131417	CV1650666	single nucleotide variant	NM_003907.3(EIF2B5):c.45G>A (p.Arg15=)	not provided [RCV002176849]	likely benign	3	184135430	184135430	Human		name
152147654	CV1653747	single nucleotide variant	NM_003907.3(EIF2B5):c.69G>A (p.Gly23=)	not provided [RCV002139042]	likely benign	3	184135454	184135454	Human		name
156191656	CV1974485	single nucleotide variant	NM_003907.3(EIF2B5):c.87C>T (p.Gly29=)	not provided [RCV002625439]	likely benign	3	184135472	184135472	Human		name
156328195	CV1982422	single nucleotide variant	NM_003907.3(EIF2B5):c.81C>T (p.Ser27=)	EIF2B5-related disorder [RCV004731281]\|not provided [RCV002649673]	likely benign	3	184135466	184135466	Human	1	name , trait , alternate_id
156013007	CV2051552	single nucleotide variant	NM_003907.3(EIF2B5):c.69G>T (p.Gly23=)	not provided [RCV002820225]	likely benign	3	184135454	184135454	Human		name
156081291	CV2158531	single nucleotide variant	NM_003907.3(EIF2B5):c.7G>A (p.Ala3Thr)	not provided [RCV003037892]	uncertain significance	3	184135392	184135392	Human		name
405204163	CV2858526	single nucleotide variant	NM_003907.3(EIF2B5):c.42T>C (p.Ser14=)	not provided [RCV003551728]	likely benign	3	184135427	184135427	Human		name
405109251	CV2898755	single nucleotide variant	NM_003907.3(EIF2B5):c.60C>T (p.Ser20=)	not provided [RCV003557663]	likely benign	3	184135445	184135445	Human		name
405009055	CV2990046	single nucleotide variant	NM_003907.3(EIF2B5):c.84T>C (p.Gly28=)	not provided [RCV003693824]	likely benign	3	184135469	184135469	Human		name
405170344	CV3025727	deletion	NM_003907.3(EIF2B5):c.843+14_843+15del	not provided [RCV003704632]	likely benign	3	184140171	184140172	Human		name
405170356	CV3025728	deletion	NM_003907.3(EIF2B5):c.843+18_843+20del	not provided [RCV003704633]	likely benign	3	184140175	184140177	Human		name
405224513	CV3058138	single nucleotide variant	NM_003907.3(EIF2B5):c.78C>T (p.Gly26=)	not provided [RCV003733814]	likely benign	3	184135463	184135463	Human		name
405129614	CV3133295	single nucleotide variant	NM_003907.3(EIF2B5):c.33G>A (p.Val11=)	not provided [RCV003838265]	likely benign	3	184135418	184135418	Human		name
597889201	CV3830281	single nucleotide variant	NM_003907.3(EIF2B5):c.69G>C (p.Gly23=)	not provided [RCV005164421]	likely benign	3	184135454	184135454	Human		name
15162057	CV748125	single nucleotide variant	NM_003907.3(EIF2B5):c.72G>A (p.Pro24=)	not provided [RCV000925813]	likely benign\|conflicting interpretations of pathogenicity	3	184135457	184135457	Human		name
15132907	CV781622	single nucleotide variant	NM_003907.3(EIF2B5):c.66G>A (p.Ala22=)	not provided [RCV000981466]	likely benign	3	184135451	184135451	Human		name
38461221	CV918815	single nucleotide variant	NM_003907.3(EIF2B5):c.5C>T (p.Ala2Val)	Vanishing white matter disease [RCV001197221]\|not provided [RCV001859189]	likely pathogenic\|uncertain significance	3	184135390	184135390	Human	2	name
127259177	CV1092276	single nucleotide variant	NM_003907.3(EIF2B5):c.139C>T (p.Leu47=)	not provided [RCV001427547]	likely benign	3	184135524	184135524	Human		name
127257360	CV1092277	single nucleotide variant	NM_003907.3(EIF2B5):c.261T>C (p.Gly87=)	not provided [RCV001437891]	likely benign	3	184136677	184136677	Human		name
127247599	CV1092278	single nucleotide variant	NM_003907.3(EIF2B5):c.261T>G (p.Gly87=)	not provided [RCV001435654]	likely benign	3	184136677	184136677	Human		name
127306873	CV1113813	single nucleotide variant	NM_003907.3(EIF2B5):c.105G>C (p.Ala35=)	not provided [RCV001455665]	likely benign	3	184135490	184135490	Human		name
127328256	CV1134699	single nucleotide variant	NM_003907.3(EIF2B5):c.102G>A (p.Gly34=)	not provided [RCV001506963]	likely benign	3	184135487	184135487	Human		name
127321184	CV1134700	single nucleotide variant	NM_003907.3(EIF2B5):c.135A>G (p.Ala45=)	not provided [RCV001504684]	likely benign	3	184135520	184135520	Human		name
152112514	CV1573331	single nucleotide variant	NM_003907.3(EIF2B5):c.108G>A (p.Glu36=)	not provided [RCV002215687]	likely benign	3	184135493	184135493	Human		name
152026925	CV1593637	single nucleotide variant	NM_003907.3(EIF2B5):c.114A>G (p.Glu38=)	not provided [RCV002104720]	likely benign	3	184135499	184135499	Human		name
152095293	CV1603933	single nucleotide variant	NM_003907.3(EIF2B5):c.213C>G (p.Ala71=)	not provided [RCV002213277]	likely benign	3	184136629	184136629	Human		name
152130420	CV1630963	single nucleotide variant	NM_003907.3(EIF2B5):c.279C>T (p.Val93=)	not provided [RCV002119016]	likely benign	3	184136695	184136695	Human		name
152132044	CV1631220	single nucleotide variant	NM_003907.3(EIF2B5):c.135A>C (p.Ala45=)	not provided [RCV002119212]	likely benign	3	184135520	184135520	Human		name
152064705	CV1654319	single nucleotide variant	NM_003907.3(EIF2B5):c.198C>T (p.Val66=)	not provided [RCV002190992]	likely benign	3	184136614	184136614	Human		name
152052848	CV1659213	single nucleotide variant	NM_003907.3(EIF2B5):c.129A>G (p.Leu43=)	not provided [RCV002189622]	likely benign	3	184135514	184135514	Human		name
156282164	CV1896860	single nucleotide variant	NM_003907.3(EIF2B5):c.10C>T (p.Pro4Ser)	not provided [RCV003087155]	uncertain significance	3	184135395	184135395	Human		name
156308416	CV1999947	single nucleotide variant	NM_003907.3(EIF2B5):c.252T>C (p.Thr84=)	not provided [RCV002671497]	likely benign	3	184136668	184136668	Human		name
156137362	CV2097419	single nucleotide variant	NM_003907.3(EIF2B5):c.273A>G (p.Thr91=)	not provided [RCV002890171]	likely benign	3	184136689	184136689	Human		name
155945412	CV2154705	single nucleotide variant	NM_003907.3(EIF2B5):c.127C>T (p.Leu43=)	not provided [RCV003014530]	likely benign	3	184135512	184135512	Human		name
155965977	CV2156021	single nucleotide variant	NM_003907.3(EIF2B5):c.231C>T (p.Asp77=)	not provided [RCV003015701]	likely benign	3	184136647	184136647	Human		name
405239522	CV2885852	single nucleotide variant	NM_003907.3(EIF2B5):c.252T>G (p.Thr84=)	not provided [RCV003556955]	likely benign	3	184136668	184136668	Human		name
11654958	CV294035	single nucleotide variant	NM_003907.3(EIF2B5):c.216T>C (p.Asn72=)	Vanishing white matter disease [RCV000322202]\|not provided [RCV001407221]	likely benign\|uncertain significance	3	184136632	184136632	Human	2	name
405242845	CV2974750	single nucleotide variant	NM_003907.3(EIF2B5):c.105G>T (p.Ala35=)	not provided [RCV003684449]	likely benign	3	184135490	184135490	Human		name
404984054	CV2986667	single nucleotide variant	NM_003907.3(EIF2B5):c.204G>A (p.Leu68=)	not provided [RCV003691614]	likely benign	3	184136620	184136620	Human		name
405241357	CV3004642	single nucleotide variant	NM_003907.3(EIF2B5):c.258A>G (p.Thr86=)	not provided [RCV003719208]	likely benign	3	184136674	184136674	Human		name
405115906	CV3019297	single nucleotide variant	NM_003907.3(EIF2B5):c.165C>T (p.Arg55=)	not provided [RCV003700140]	likely benign	3	184135550	184135550	Human		name
402504253	CV3032465	single nucleotide variant	NM_003907.3(EIF2B5):c.123G>A (p.Pro41=)	not provided [RCV003714877]	likely benign	3	184135508	184135508	Human		name
405088106	CV3044502	single nucleotide variant	NM_003907.3(EIF2B5):c.177C>T (p.Ile59=)	not provided [RCV003717620]	likely benign	3	184135562	184135562	Human		name
405242176	CV3078640	single nucleotide variant	NM_003907.3(EIF2B5):c.150T>C (p.Asp50=)	not provided [RCV003737514]	likely benign	3	184135535	184135535	Human		name
405211580	CV3117834	single nucleotide variant	NM_003907.3(EIF2B5):c.247C>T (p.Leu83=)	not provided [RCV003823433]	likely benign	3	184136663	184136663	Human		name
405231444	CV3157403	single nucleotide variant	NM_003907.3(EIF2B5):c.171C>T (p.Phe57=)	not provided [RCV003865353]	likely benign	3	184135556	184135556	Human		name
597666995	CV3674408	single nucleotide variant	NM_003907.3(EIF2B5):c.26C>G (p.Pro9Arg)	Inborn genetic diseases [RCV004979617]	uncertain significance	3	184135411	184135411	Human	1	name
597848440	CV3783537	single nucleotide variant	NM_003907.3(EIF2B5):c.105G>A (p.Ala35=)	not provided [RCV005124033]	likely benign	3	184135490	184135490	Human		name
127240245	CV1070584	single nucleotide variant	NM_003907.3(EIF2B5):c.336C>T (p.Cys112=)	not provided [RCV001415521]	likely benign	3	184137635	184137635	Human		name
127243850	CV1070585	single nucleotide variant	NM_003907.3(EIF2B5):c.369T>A (p.Ile123=)	not provided [RCV001398478]	likely benign	3	184137668	184137668	Human		name
127236673	CV1070586	single nucleotide variant	NM_003907.3(EIF2B5):c.399T>C (p.Asp133=)	not provided [RCV001396941]	likely benign	3	184137698	184137698	Human		name
127275494	CV1070587	single nucleotide variant	NM_003907.3(EIF2B5):c.417T>C (p.Asp139=)	not provided [RCV001406746]	likely benign	3	184137716	184137716	Human		name
127240865	CV1070589	single nucleotide variant	NM_003907.3(EIF2B5):c.540G>A (p.Val180=)	not provided [RCV001392998]	likely benign	3	184137931	184137931	Human		name
127248765	CV1070590	single nucleotide variant	NM_003907.3(EIF2B5):c.609G>T (p.Val203=)	not provided [RCV001417209]	likely benign	3	184138000	184138000	Human		name
127238692	CV1070591	single nucleotide variant	NM_003907.3(EIF2B5):c.729T>C (p.Asp243=)	not provided [RCV001415151]	likely benign	3	184138210	184138210	Human		name
127231915	CV1070592	single nucleotide variant	NM_003907.3(EIF2B5):c.762T>C (p.Pro254=)	not provided [RCV001395492]	likely benign	3	184138243	184138243	Human		name
127232042	CV1070594	single nucleotide variant	NM_003907.3(EIF2B5):c.894C>T (p.Ala298=)	not provided [RCV001413294]	likely benign	3	184140468	184140468	Human		name
127253160	CV1070595	single nucleotide variant	NM_003907.3(EIF2B5):c.975G>A (p.Ala325=)	not provided [RCV001418222]	likely benign	3	184140549	184140549	Human		name
127271276	CV1092279	single nucleotide variant	NM_003907.3(EIF2B5):c.381C>G (p.Leu127=)	not provided [RCV001441773]	likely benign	3	184137680	184137680	Human		name
127243116	CV1092281	single nucleotide variant	NM_003907.3(EIF2B5):c.714G>A (p.Val238=)	not provided [RCV001434767]	likely benign	3	184138195	184138195	Human		name
127295387	CV1113815	single nucleotide variant	NM_003907.3(EIF2B5):c.339C>T (p.Arg113=)	not provided [RCV001452498]	likely benign	3	184137638	184137638	Human		name
127315798	CV1113816	single nucleotide variant	NM_003907.3(EIF2B5):c.714G>C (p.Val238=)	not provided [RCV001458061]	likely benign	3	184138195	184138195	Human		name
127297615	CV1113817	single nucleotide variant	NM_003907.3(EIF2B5):c.831A>G (p.Leu277=)	not provided [RCV001460289]	likely benign	3	184140145	184140145	Human		name
127330175	CV1113818	single nucleotide variant	NM_003907.3(EIF2B5):c.840G>A (p.Glu280=)	Vanishing white matter disease [RCV001832616]\|not provided [RCV001470722]	likely benign	3	184140154	184140154	Human	2	name
127321120	CV1134702	single nucleotide variant	NM_003907.3(EIF2B5):c.450G>C (p.Leu150=)	not provided [RCV001484439]	likely benign	3	184137749	184137749	Human		name
127327559	CV1134703	single nucleotide variant	NM_003907.3(EIF2B5):c.600T>C (p.Asn200=)	Vanishing white matter disease [RCV001826348]\|not provided [RCV001506678]	likely benign	3	184137991	184137991	Human	2	name
127337604	CV1134704	single nucleotide variant	NM_003907.3(EIF2B5):c.636T>A (p.Val212=)	not provided [RCV001492941]	likely benign	3	184138027	184138027	Human		name
127317863	CV1134705	single nucleotide variant	NM_003907.3(EIF2B5):c.642T>C (p.His214=)	not provided [RCV001503508]	likely benign	3	184138033	184138033	Human		name
127309597	CV1134707	single nucleotide variant	NM_003907.3(EIF2B5):c.690G>A (p.Leu230=)	not provided [RCV001501114]	likely benign	3	184138171	184138171	Human		name
127324116	CV1134708	single nucleotide variant	NM_003907.3(EIF2B5):c.744T>C (p.His248=)	not provided [RCV001485405]	likely benign	3	184138225	184138225	Human		name
127302649	CV1134710	single nucleotide variant	NM_003907.3(EIF2B5):c.873A>G (p.Val291=)	not provided [RCV001499120]	likely benign	3	184140447	184140447	Human		name
151763198	CV1425616	single nucleotide variant	NM_003907.3(EIF2B5):c.990C>T (p.Ser330=)	not provided [RCV001928764]	likely benign	3	184140564	184140564	Human		name
151875953	CV1461320	single nucleotide variant	NM_003907.3(EIF2B5):c.95C>G (p.Ala32Gly)	not provided [RCV001925818]	uncertain significance	3	184135480	184135480	Human		name
152109509	CV1520282	single nucleotide variant	NM_003907.3(EIF2B5):c.618T>C (p.Asp206=)	not provided [RCV002134301]	likely benign	3	184138009	184138009	Human		name
152166328	CV1524330	single nucleotide variant	NM_003907.3(EIF2B5):c.597C>T (p.Asp199=)	not provided [RCV002141903]	likely benign	3	184137988	184137988	Human		name
152115676	CV1526258	single nucleotide variant	NM_003907.3(EIF2B5):c.987C>T (p.Asp329=)	not provided [RCV002174894]	likely benign	3	184140561	184140561	Human		name
152169944	CV1529428	single nucleotide variant	NM_003907.3(EIF2B5):c.378G>A (p.Glu126=)	not provided [RCV002161608]	likely benign	3	184137677	184137677	Human		name
152059053	CV1532679	single nucleotide variant	NM_003907.3(EIF2B5):c.411T>C (p.Asp137=)	not provided [RCV002208433]	likely benign	3	184137710	184137710	Human		name
152129855	CV1539036	single nucleotide variant	NM_003907.3(EIF2B5):c.963C>T (p.Leu321=)	not provided [RCV002217918]	likely benign	3	184140537	184140537	Human		name
152083175	CV1554673	single nucleotide variant	NM_003907.3(EIF2B5):c.771A>C (p.Ala257=)	not provided [RCV002211686]	likely benign	3	184140085	184140085	Human		name
152047377	CV1556388	single nucleotide variant	NM_003907.3(EIF2B5):c.591C>T (p.His197=)	not provided [RCV002207080]	likely benign	3	184137982	184137982	Human		name
152165797	CV1557065	single nucleotide variant	NM_003907.3(EIF2B5):c.783A>G (p.Thr261=)	not provided [RCV002181810]	likely benign	3	184140097	184140097	Human		name
152091666	CV1567647	single nucleotide variant	NM_003907.3(EIF2B5):c.849A>G (p.Leu283=)	not provided [RCV002212811]	likely benign	3	184140423	184140423	Human		name
152054277	CV1574257	single nucleotide variant	NM_003907.3(EIF2B5):c.759T>C (p.Ser253=)	not provided [RCV002189772]	likely benign	3	184138240	184138240	Human		name
152105408	CV1574975	single nucleotide variant	NM_003907.3(EIF2B5):c.65C>T (p.Ala22Val)	not provided [RCV002096092]	likely benign	3	184135450	184135450	Human		name
152045191	CV1588743	single nucleotide variant	NM_003907.3(EIF2B5):c.939C>T (p.Val313=)	not provided [RCV002188754]	likely benign	3	184140513	184140513	Human		name
152136818	CV1603630	single nucleotide variant	NM_003907.3(EIF2B5):c.552C>T (p.Ile184=)	not provided [RCV002218832]	likely benign	3	184137943	184137943	Human		name
152101571	CV1606900	single nucleotide variant	NM_003907.3(EIF2B5):c.837T>C (p.Asn279=)	not provided [RCV002195617]	likely benign	3	184140151	184140151	Human		name
152161932	CV1619570	single nucleotide variant	NM_003907.3(EIF2B5):c.303A>G (p.Gln101=)	not provided [RCV002159791]	likely benign	3	184136719	184136719	Human		name
152105367	CV1622885	single nucleotide variant	NM_003907.3(EIF2B5):c.730T>C (p.Leu244=)	not provided [RCV002214733]	likely benign	3	184138211	184138211	Human		name
152143117	CV1636577	single nucleotide variant	NM_003907.3(EIF2B5):c.420C>T (p.Ala140=)	not provided [RCV002120648]	likely benign	3	184137719	184137719	Human		name
152028425	CV1642784	single nucleotide variant	NM_003907.3(EIF2B5):c.450G>T (p.Leu150=)	not provided [RCV002185831]	likely benign	3	184137749	184137749	Human		name
152101854	CV1645922	single nucleotide variant	NM_003907.3(EIF2B5):c.486C>T (p.Thr162=)	not provided [RCV002173207]	likely benign	3	184137785	184137785	Human		name
152115624	CV1653594	single nucleotide variant	NM_003907.3(EIF2B5):c.807A>G (p.Arg269=)	not provided [RCV002153617]	likely benign	3	184140121	184140121	Human		name
155694377	CV1771912	single nucleotide variant	NM_003907.3(EIF2B5):c.74G>T (p.Gly25Val)	not provided [RCV002299499]	uncertain significance	3	184135459	184135459	Human		name
156053510	CV1878753	single nucleotide variant	NM_003907.3(EIF2B5):c.44G>T (p.Arg15Leu)	Inborn genetic diseases [RCV004617163]\|not provided [RCV003053085]	uncertain significance	3	184135429	184135429	Human	1	name
156352082	CV1883280	single nucleotide variant	NM_003907.3(EIF2B5):c.603G>A (p.Val201=)	not provided [RCV003091057]	likely benign	3	184137994	184137994	Human		name
156364470	CV1897214	single nucleotide variant	NM_003907.3(EIF2B5):c.480T>C (p.Asn160=)	not provided [RCV002581962]	likely benign	3	184137779	184137779	Human		name
156375990	CV1917611	single nucleotide variant	NM_003907.3(EIF2B5):c.630C>T (p.Asn210=)	not provided [RCV002603585]	likely benign	3	184138021	184138021	Human		name
155953516	CV1918243	single nucleotide variant	NM_003907.3(EIF2B5):c.996C>T (p.Thr332=)	not provided [RCV002616352]	likely benign	3	184140570	184140570	Human		name
156443959	CV1941237	single nucleotide variant	NM_003907.3(EIF2B5):c.88G>T (p.Gly30Trp)	not provided [RCV003114872]	uncertain significance	3	184135473	184135473	Human		name
156329901	CV1969880	single nucleotide variant	NM_003907.3(EIF2B5):c.61G>A (p.Gly21Ser)	not provided [RCV002600736]	uncertain significance	3	184135446	184135446	Human		name
156194121	CV1970838	single nucleotide variant	NM_003907.3(EIF2B5):c.891T>C (p.Gly297=)	not provided [RCV002625511]	likely benign	3	184140465	184140465	Human		name
156337347	CV1997289	single nucleotide variant	NM_003907.3(EIF2B5):c.975G>C (p.Ala325=)	not provided [RCV002650137]	likely benign	3	184140549	184140549	Human		name
156335318	CV2000962	single nucleotide variant	NM_003907.3(EIF2B5):c.873A>C (p.Val291=)	not provided [RCV002650040]	likely benign	3	184140447	184140447	Human		name
156320768	CV2025340	single nucleotide variant	NM_003907.3(EIF2B5):c.721C>A (p.Arg241=)	not provided [RCV002717073]	likely benign	3	184138202	184138202	Human		name
156219473	CV2028832	single nucleotide variant	NM_003907.3(EIF2B5):c.945C>A (p.Arg315=)	not provided [RCV002712084]	likely benign	3	184140519	184140519	Human		name
155940240	CV2071575	single nucleotide variant	NM_003907.3(EIF2B5):c.846C>A (p.Ile282=)	not provided [RCV002861726]	likely benign	3	184140420	184140420	Human		name
156310586	CV2076261	single nucleotide variant	NM_003907.3(EIF2B5):c.789C>T (p.Asn263=)	not provided [RCV002857638]	likely benign	3	184140103	184140103	Human		name
156226586	CV2081131	single nucleotide variant	NM_003907.3(EIF2B5):c.648G>A (p.Gln216=)	not provided [RCV002853411]	likely benign	3	184138039	184138039	Human		name
156258769	CV2090168	single nucleotide variant	NM_003907.3(EIF2B5):c.540G>T (p.Val180=)	not provided [RCV002877196]	likely benign	3	184137931	184137931	Human		name
156135793	CV2113312	single nucleotide variant	NM_003907.3(EIF2B5):c.966C>T (p.Thr322=)	not provided [RCV002928372]	likely benign	3	184140540	184140540	Human		name
155934668	CV2138659	single nucleotide variant	NM_003907.3(EIF2B5):c.381C>T (p.Leu127=)	not provided [RCV002993626]	likely benign	3	184137680	184137680	Human		name
156043277	CV2147072	deletion	NM_003907.3(EIF2B5):c.250del (p.Thr84fs)	not provided [RCV003019141]	pathogenic	3	184136666	184136666	Human		name
155919792	CV2148824	single nucleotide variant	NM_003907.3(EIF2B5):c.59G>A (p.Ser20Asn)	not provided [RCV002991844]	uncertain significance	3	184135444	184135444	Human		name
156294820	CV2152966	single nucleotide variant	NM_003907.3(EIF2B5):c.402C>T (p.Val134=)	not provided [RCV003010116]	likely benign	3	184137701	184137701	Human		name
155966959	CV2180156	single nucleotide variant	NM_003907.3(EIF2B5):c.43C>T (p.Arg15Trp)	not provided [RCV003033213]	uncertain significance	3	184135428	184135428	Human		name
401917540	CV2829903	single nucleotide variant	NM_003907.3(EIF2B5):c.56G>T (p.Arg19Leu)	Inborn genetic diseases [RCV004364682]\|not provided [RCV003443947]	uncertain significance	3	184135441	184135441	Human	1	name
405084992	CV2865877	single nucleotide variant	NM_003907.3(EIF2B5):c.654C>T (p.Thr218=)	not provided [RCV003549504]	likely benign	3	184138045	184138045	Human		name
405093027	CV2878331	single nucleotide variant	NM_003907.3(EIF2B5):c.984T>C (p.Thr328=)	not provided [RCV003550040]	likely benign	3	184140558	184140558	Human		name
11592151	CV289651	single nucleotide variant	NM_003907.3(EIF2B5):c.465C>T (p.Val155=)	Vanishing white matter disease [RCV000335800]\|not provided [RCV002057871]	likely benign\|uncertain significance	3	184137764	184137764	Human	2	name
405187361	CV2917670	single nucleotide variant	NM_003907.3(EIF2B5):c.907C>T (p.Leu303=)	not provided [RCV003564559]	likely benign	3	184140481	184140481	Human		name
402497158	CV2942866	single nucleotide variant	NM_003907.3(EIF2B5):c.444T>C (p.Phe148=)	not provided [RCV003661195]	likely benign	3	184137743	184137743	Human		name
405175749	CV2951860	single nucleotide variant	NM_003907.3(EIF2B5):c.520C>T (p.Leu174=)	not provided [RCV003675813]	likely benign	3	184137911	184137911	Human		name
405189925	CV2964667	single nucleotide variant	NM_003907.3(EIF2B5):c.612T>A (p.Ala204=)	not provided [RCV003677109]	likely benign	3	184138003	184138003	Human		name
402493164	CV2981972	single nucleotide variant	NM_003907.3(EIF2B5):c.579A>G (p.Pro193=)	not provided [RCV003713975]	likely benign	3	184137970	184137970	Human		name
405230318	CV2987410	single nucleotide variant	NM_003907.3(EIF2B5):c.324G>A (p.Lys108=)	not provided [RCV003711407]	likely benign	3	184137623	184137623	Human		name
404983428	CV2989700	single nucleotide variant	NM_003907.3(EIF2B5):c.702T>C (p.Ser234=)	not provided [RCV003691549]	likely benign	3	184138183	184138183	Human		name
405042353	CV3007637	single nucleotide variant	NM_003907.3(EIF2B5):c.906C>T (p.Asn302=)	not provided [RCV003696422]	likely benign	3	184140480	184140480	Human		name
405141226	CV3026303	single nucleotide variant	NM_003907.3(EIF2B5):c.514C>A (p.Arg172=)	not provided [RCV003702524]	likely benign	3	184137905	184137905	Human		name
405141298	CV3026321	single nucleotide variant	NM_003907.3(EIF2B5):c.733C>T (p.Leu245=)	not provided [RCV003702532]	likely benign	3	184138214	184138214	Human		name
405173943	CV3026981	single nucleotide variant	NM_003907.3(EIF2B5):c.633G>A (p.Arg211=)	not provided [RCV003704929]	likely benign	3	184138024	184138024	Human		name
405219798	CV3035155	single nucleotide variant	NM_003907.3(EIF2B5):c.780T>C (p.Phe260=)	not provided [RCV003709799]	likely benign	3	184140094	184140094	Human		name
405085843	CV3047741	microsatellite	NM_003907.3(EIF2B5):c.1303-17_1303-16del	not provided [RCV003717464]	likely benign	3	184142217	184142218	Human		name
405150846	CV3123356	microsatellite	NM_003907.3(EIF2B5):c.2106+19_2106+21del	not provided [RCV003817589]	likely benign	3	184144721	184144723	Human		name
405106114	CV3139912	single nucleotide variant	NM_003907.3(EIF2B5):c.609G>A (p.Val203=)	not provided [RCV003835323]	likely benign	3	184138000	184138000	Human		name
405174502	CV3148160	single nucleotide variant	NM_003907.3(EIF2B5):c.699C>T (p.Gly233=)	not provided [RCV003858132]	likely benign	3	184138180	184138180	Human		name
405129154	CV3163223	single nucleotide variant	NM_003907.3(EIF2B5):c.805C>A (p.Arg269=)	not provided [RCV003854404]	likely benign	3	184140119	184140119	Human		name
405090113	CV3163614	single nucleotide variant	NM_003907.3(EIF2B5):c.948A>C (p.Arg316=)	not provided [RCV003852122]	likely benign	3	184140522	184140522	Human		name
405718955	CV3238543	single nucleotide variant	NM_003907.3(EIF2B5):c.82G>A (p.Gly28Ser)	Inborn genetic diseases [RCV004377738]	uncertain significance	3	184135467	184135467	Human	1	name
597865954	CV3742332	single nucleotide variant	NM_003907.3(EIF2B5):c.828C>G (p.Leu276=)	not provided [RCV005067948]	likely benign	3	184140142	184140142	Human		name
597939819	CV3760559	single nucleotide variant	NM_003907.3(EIF2B5):c.930T>C (p.Cys310=)	not provided [RCV005077286]	likely benign	3	184140504	184140504	Human		name
597840362	CV3771471	single nucleotide variant	NM_003907.3(EIF2B5):c.372A>C (p.Thr124=)	not provided [RCV005114402]	likely benign	3	184137671	184137671	Human		name
598179015	CV3961334	single nucleotide variant	NM_003907.3(EIF2B5):c.68G>A (p.Gly23Glu)	Inborn genetic diseases [RCV005332436]	uncertain significance	3	184135453	184135453	Human	1	name
13809414	CV576724	single nucleotide variant	NM_003907.3(EIF2B5):c.37G>A (p.Val13Ile)	not provided [RCV000711608]	uncertain significance	3	184135422	184135422	Human		name
15197562	CV720319	single nucleotide variant	NM_003907.3(EIF2B5):c.900C>T (p.Val300=)	Vanishing white matter disease [RCV001273454]\|not provided [RCV000890094]	likely benign\|uncertain significance	3	184140474	184140474	Human	2	name
15196272	CV748126	single nucleotide variant	NM_003907.3(EIF2B5):c.936C>T (p.Asp312=)	Vanishing white matter disease [RCV001832052]\|not provided [RCV000911650]	likely benign	3	184140510	184140510	Human	2	name
15131586	CV763752	single nucleotide variant	NM_003907.3(EIF2B5):c.453G>A (p.Val151=)	EIF2B5-related disorder [RCV003933217]\|Vanishing white matter disease [RCV001144203]\|not provided [RCV000942249]	likely benign\|uncertain significance	3	184137752	184137752	Human	3	name , trait , alternate_id
15195583	CV763753	single nucleotide variant	NM_003907.3(EIF2B5):c.468C>T (p.Ile156=)	not provided [RCV000933977]	likely benign	3	184137767	184137767	Human		name
15138562	CV763754	single nucleotide variant	NM_003907.3(EIF2B5):c.822A>C (p.Arg274=)	not provided [RCV000943416]	likely benign	3	184140136	184140136	Human		name
15181643	CV763755	single nucleotide variant	NM_003907.3(EIF2B5):c.870C>T (p.His290=)	not provided [RCV000930175]	likely benign	3	184140444	184140444	Human		name
15148755	CV763756	single nucleotide variant	NM_003907.3(EIF2B5):c.924T>C (p.Ala308=)	not provided [RCV000945176]	likely benign	3	184140498	184140498	Human		name
15199688	CV763757	single nucleotide variant	NM_003907.3(EIF2B5):c.966C>G (p.Thr322=)	Vanishing white matter disease [RCV001275520]\|not provided [RCV000935174]	likely benign	3	184140540	184140540	Human	2	name
28903830	CV888464	single nucleotide variant	NM_003907.3(EIF2B5):c.546G>A (p.Thr182=)	Vanishing white matter disease [RCV001144205]\|not provided [RCV001452254]	likely benign\|uncertain significance	3	184137937	184137937	Human	2	name
127239513	CV1070596	single nucleotide variant	NM_003907.3(EIF2B5):c.1048C>T (p.Leu350=)	not provided [RCV001392740]	likely benign	3	184140622	184140622	Human		name
127260361	CV1070598	single nucleotide variant	NM_003907.3(EIF2B5):c.1327C>T (p.Leu443=)	not provided [RCV001402168]	likely benign	3	184142261	184142261	Human		name
127279010	CV1070599	single nucleotide variant	NM_003907.3(EIF2B5):c.1428C>T (p.Asp476=)	not provided [RCV001408848]	likely benign	3	184142362	184142362	Human		name
127274130	CV1070601	single nucleotide variant	NM_003907.3(EIF2B5):c.1530G>A (p.Leu510=)	not provided [RCV001406249]	likely benign	3	184142587	184142587	Human		name
127260391	CV1070602	single nucleotide variant	NM_003907.3(EIF2B5):c.1590G>A (p.Glu530=)	not provided [RCV001402173]	likely benign	3	184142822	184142822	Human		name
127275527	CV1070603	single nucleotide variant	NM_003907.3(EIF2B5):c.1797G>A (p.Val599=)	not provided [RCV001406759]	likely benign	3	184143493	184143493	Human		name
127239963	CV1070604	single nucleotide variant	NM_003907.3(EIF2B5):c.1801C>T (p.Leu601=)	not provided [RCV001397677]	likely benign	3	184143497	184143497	Human		name
127253788	CV1070605	single nucleotide variant	NM_003907.3(EIF2B5):c.1833G>A (p.Pro611=)	not provided [RCV001400644]	likely benign	3	184143529	184143529	Human		name
127262615	CV1092282	single nucleotide variant	NM_003907.3(EIF2B5):c.1143C>T (p.Pro381=)	Vanishing white matter disease [RCV001836405]\|not provided [RCV001439029]	likely benign	3	184140717	184140717	Human	2	name
127284093	CV1092283	single nucleotide variant	NM_003907.3(EIF2B5):c.1218A>G (p.Ala406=)	not provided [RCV001448964]	likely benign	3	184141986	184141986	Human		name
127257575	CV1092284	single nucleotide variant	NM_003907.3(EIF2B5):c.1221G>A (p.Gln407=)	not provided [RCV001437923]	likely benign	3	184141989	184141989	Human		name
127272049	CV1092285	single nucleotide variant	NM_003907.3(EIF2B5):c.1230G>A (p.Gln410=)	not provided [RCV001442027]	likely benign	3	184141998	184141998	Human		name
127251825	CV1092286	single nucleotide variant	NM_003907.3(EIF2B5):c.1449C>T (p.Tyr483=)	not provided [RCV001425703]	likely benign	3	184142506	184142506	Human		name
127253249	CV1092287	single nucleotide variant	NM_003907.3(EIF2B5):c.1854T>C (p.Cys618=)	not provided [RCV001436973]	likely benign	3	184143550	184143550	Human		name
127236679	CV1092289	single nucleotide variant	NM_003907.3(EIF2B5):c.1923C>T (p.Asp641=)	not provided [RCV001422573]	likely benign	3	184144152	184144152	Human		name
127284510	CV1092290	single nucleotide variant	NM_003907.3(EIF2B5):c.2079G>A (p.Lys693=)	not provided [RCV001449527]	likely benign	3	184144680	184144680	Human		name
127276122	CV1092291	single nucleotide variant	NM_003907.3(EIF2B5):c.2103A>G (p.Gln701=)	not provided [RCV001432633]	likely benign	3	184144704	184144704	Human		name
127259867	CV1092292	single nucleotide variant	NM_003907.3(EIF2B5):c.2115G>A (p.Arg705=)	not provided [RCV001438430]	likely benign	3	184144892	184144892	Human		name
127330388	CV1113821	single nucleotide variant	NM_003907.3(EIF2B5):c.1014C>T (p.Ser338=)	not provided [RCV001470837]	likely benign	3	184140588	184140588	Human		name
127294027	CV1113822	single nucleotide variant	NM_003907.3(EIF2B5):c.1083C>T (p.Leu361=)	not provided [RCV001476707]	likely benign	3	184140657	184140657	Human		name
127311520	CV1113823	single nucleotide variant	NM_003907.3(EIF2B5):c.1215A>G (p.Gly405=)	not provided [RCV001464176]	likely benign	3	184141983	184141983	Human		name
127327443	CV1113826	single nucleotide variant	NM_003907.3(EIF2B5):c.1527A>G (p.Glu509=)	not provided [RCV001469085]	likely benign	3	184142584	184142584	Human		name
127330793	CV1113829	single nucleotide variant	NM_003907.3(EIF2B5):c.1935G>A (p.Ala645=)	not provided [RCV001471155]	likely benign	3	184144164	184144164	Human		name
127297955	CV1113830	single nucleotide variant	NM_003907.3(EIF2B5):c.1998A>T (p.Val666=)	not provided [RCV001453177]	likely benign	3	184144599	184144599	Human		name
127305408	CV1113831	single nucleotide variant	NM_003907.3(EIF2B5):c.2013C>T (p.Tyr671=)	not provided [RCV001462476]	likely benign	3	184144614	184144614	Human		name
127327241	CV1113832	single nucleotide variant	NM_003907.3(EIF2B5):c.2097G>A (p.Lys699=)	not provided [RCV001469013]	likely benign	3	184144698	184144698	Human		name
127310660	CV1134711	single nucleotide variant	NM_003907.3(EIF2B5):c.1041G>A (p.Glu347=)	not provided [RCV001481193]	likely benign	3	184140615	184140615	Human		name
127312516	CV1134712	single nucleotide variant	NM_003907.3(EIF2B5):c.1107C>T (p.Gly369=)	not provided [RCV001481698]	likely benign	3	184140681	184140681	Human		name
127317267	CV1134715	single nucleotide variant	NM_003907.3(EIF2B5):c.1164C>T (p.Asn388=)	not provided [RCV001483111]	likely benign	3	184141932	184141932	Human		name
127306871	CV1134717	single nucleotide variant	NM_003907.3(EIF2B5):c.1812C>G (p.Pro604=)	not provided [RCV001500335]	likely benign	3	184143508	184143508	Human		name
151710594	CV1365572	single nucleotide variant	NM_003907.3(EIF2B5):c.170T>C (p.Phe57Ser)	Vanishing white matter disease [RCV002482583]\|not provided [RCV001907916]	uncertain significance	3	184135555	184135555	Human	2	name
151730462	CV1413125	single nucleotide variant	NM_003907.3(EIF2B5):c.1308C>G (p.Val436=)	not provided [RCV002004722]	likely benign	3	184142242	184142242	Human		name
151810150	CV1417310	single nucleotide variant	NM_003907.3(EIF2B5):c.1236G>T (p.Leu412=)	not provided [RCV002028891]	likely benign	3	184142004	184142004	Human		name
151883571	CV1451303	single nucleotide variant	NM_003907.3(EIF2B5):c.203T>C (p.Leu68Ser)	EIF2B5-related disorder [RCV003418251]\|Leukoencephalopathy with vanishing white matter 5 [RCV005031995]\|not provided [RCV001941541]	pathogenic\|likely pathogenic	3	184136619	184136619	Human	1	name , trait , alternate_id
151814712	CV1463080	single nucleotide variant	NM_003907.3(EIF2B5):c.1572G>A (p.Glu524=)	not provided [RCV002049194]	likely benign	3	184142804	184142804	Human		name
152038171	CV1524124	single nucleotide variant	NM_003907.3(EIF2B5):c.1308C>T (p.Val436=)	not provided [RCV002125683]	likely benign	3	184142242	184142242	Human		name
152084500	CV1537565	single nucleotide variant	NM_003907.3(EIF2B5):c.1899G>A (p.Arg633=)	not provided [RCV002149743]	likely benign	3	184144128	184144128	Human		name
152142419	CV1538229	single nucleotide variant	NM_003907.3(EIF2B5):c.1215A>C (p.Gly405=)	not provided [RCV002219550]	likely benign	3	184141983	184141983	Human		name
152147479	CV1558840	single nucleotide variant	NM_003907.3(EIF2B5):c.1827T>C (p.Asp609=)	not provided [RCV002157654]	likely benign	3	184143523	184143523	Human		name
152095463	CV1559437	single nucleotide variant	NM_003907.3(EIF2B5):c.1008T>G (p.Thr336=)	not provided [RCV002213299]	likely benign	3	184140582	184140582	Human		name
152027315	CV1562722	single nucleotide variant	NM_003907.3(EIF2B5):c.1014C>G (p.Ser338=)	not provided [RCV002104852]	likely benign	3	184140588	184140588	Human		name
152076961	CV1564597	single nucleotide variant	NM_003907.3(EIF2B5):c.1974T>C (p.Ala658=)	not provided [RCV002192538]	likely benign	3	184144203	184144203	Human		name
152148983	CV1569192	single nucleotide variant	NM_003907.3(EIF2B5):c.1929G>A (p.Leu643=)	not provided [RCV002220497]	likely benign	3	184144158	184144158	Human		name
152080663	CV1580059	single nucleotide variant	NM_003907.3(EIF2B5):c.1962A>C (p.Leu654=)	not provided [RCV002076322]	likely benign	3	184144191	184144191	Human		name
152042917	CV1581501	single nucleotide variant	NM_003907.3(EIF2B5):c.1863G>A (p.Leu621=)	not provided [RCV002071248]	likely benign	3	184143559	184143559	Human		name
152123316	CV1587228	single nucleotide variant	NM_003907.3(EIF2B5):c.2082C>A (p.Gly694=)	not provided [RCV002135990]	likely benign	3	184144683	184144683	Human		name
152068150	CV1588980	single nucleotide variant	NM_003907.3(EIF2B5):c.1017G>T (p.Arg339=)	not provided [RCV002209625]	likely benign	3	184140591	184140591	Human		name
152135995	CV1595068	single nucleotide variant	NM_003907.3(EIF2B5):c.1620C>T (p.Ser540=)	not provided [RCV002199948]	likely benign	3	184142852	184142852	Human		name
152128660	CV1596582	single nucleotide variant	NM_003907.3(EIF2B5):c.1242T>C (p.Cys414=)	not provided [RCV002118786]	likely benign	3	184142010	184142010	Human		name
152027829	CV1607436	single nucleotide variant	NM_003907.3(EIF2B5):c.1146C>G (p.Gly382=)	not provided [RCV002105027]	likely benign	3	184140720	184140720	Human		name
152034421	CV1621565	single nucleotide variant	NM_003907.3(EIF2B5):c.1704C>T (p.Asn568=)	not provided [RCV002205344]	likely benign	3	184143101	184143101	Human		name
152108456	CV1623436	single nucleotide variant	NM_003907.3(EIF2B5):c.1455A>C (p.Pro485=)	not provided [RCV002215140]	likely benign	3	184142512	184142512	Human		name
152071057	CV1628560	single nucleotide variant	NM_003907.3(EIF2B5):c.1293C>T (p.Leu431=)	not provided [RCV002169295]	likely benign	3	184142061	184142061	Human		name
152108145	CV1634774	single nucleotide variant	NM_003907.3(EIF2B5):c.1713T>C (p.Cys571=)	not provided [RCV002079882]	likely benign	3	184143110	184143110	Human		name
152057022	CV1635131	single nucleotide variant	NM_003907.3(EIF2B5):c.1698G>A (p.Glu566=)	not provided [RCV002089828]	likely benign	3	184143095	184143095	Human		name
152073939	CV1638097	single nucleotide variant	NM_003907.3(EIF2B5):c.1299C>T (p.Ser433=)	not provided [RCV002192163]	likely benign	3	184142067	184142067	Human		name
152113465	CV1644640	single nucleotide variant	NM_003907.3(EIF2B5):c.1485C>T (p.Tyr495=)	not provided [RCV002174622]	likely benign	3	184142542	184142542	Human		name
152093893	CV1648761	single nucleotide variant	NM_003907.3(EIF2B5):c.2148G>A (p.Glu716=)	not provided [RCV002078078]	likely benign	3	184144925	184144925	Human		name
152165129	CV1658600	single nucleotide variant	NM_003907.3(EIF2B5):c.1623G>A (p.Arg541=)	not provided [RCV002160387]	likely benign	3	184142855	184142855	Human		name
156391101	CV1872775	single nucleotide variant	NM_003907.3(EIF2B5):c.1356C>T (p.His452=)	not provided [RCV003051326]	likely benign	3	184142290	184142290	Human		name
155997107	CV1875994	single nucleotide variant	NM_003907.3(EIF2B5):c.139C>A (p.Leu47Met)	Inborn genetic diseases [RCV003294426]\|not provided [RCV003076399]	uncertain significance	3	184135524	184135524	Human	1	name
156236929	CV1882169	single nucleotide variant	NM_003907.3(EIF2B5):c.2091G>A (p.Leu697=)	not provided [RCV003085600]	likely benign	3	184144692	184144692	Human		name
156224858	CV1896294	single nucleotide variant	NM_003907.3(EIF2B5):c.1818A>G (p.Gln606=)	not provided [RCV003085134]	likely benign	3	184143514	184143514	Human		name
156371866	CV1905502	single nucleotide variant	NM_003907.3(EIF2B5):c.179C>T (p.Ser60Phe)	not provided [RCV003092505]	uncertain significance	3	184135564	184135564	Human		name
156163174	CV1934758	single nucleotide variant	NM_003907.3(EIF2B5):c.218T>G (p.Val73Gly)	not provided [RCV002664327]	pathogenic	3	184136634	184136634	Human		name
156449055	CV1944308	single nucleotide variant	NM_003907.3(EIF2B5):c.2067T>C (p.Asp689=)	not provided [RCV003121166]	likely benign	3	184144668	184144668	Human		name
156437459	CV1947468	single nucleotide variant	NM_003907.3(EIF2B5):c.1089C>T (p.Gly363=)	not provided [RCV003106997]	likely benign	3	184140663	184140663	Human		name
156332101	CV1966589	single nucleotide variant	NM_003907.3(EIF2B5):c.278T>C (p.Val93Ala)	not provided [RCV002600851]	uncertain significance	3	184136694	184136694	Human		name
156416287	CV1984158	single nucleotide variant	NM_003907.3(EIF2B5):c.1170G>A (p.Val390=)	not provided [RCV002610089]	likely benign	3	184141938	184141938	Human		name
156112332	CV1988852	single nucleotide variant	NM_003907.3(EIF2B5):c.1273C>T (p.Leu425=)	not provided [RCV002622628]	likely benign	3	184142041	184142041	Human		name
156037020	CV2030070	single nucleotide variant	NM_003907.3(EIF2B5):c.1794C>T (p.His598=)	not provided [RCV002736036]	likely benign	3	184143490	184143490	Human		name
156130773	CV2037423	single nucleotide variant	NM_003907.3(EIF2B5):c.121C>T (p.Pro41Ser)	not provided [RCV002800604]	uncertain significance	3	184135506	184135506	Human		name
156280012	CV2054892	single nucleotide variant	NM_003907.3(EIF2B5):c.133G>A (p.Ala45Thr)	not provided [RCV002832808]	uncertain significance	3	184135518	184135518	Human		name
155915981	CV2063156	single nucleotide variant	NM_003907.3(EIF2B5):c.1476C>T (p.Gly492=)	not provided [RCV002838060]	likely benign	3	184142533	184142533	Human		name
156300811	CV2083318	single nucleotide variant	NM_003907.3(EIF2B5):c.2058C>T (p.Ser686=)	not provided [RCV002857160]	likely benign	3	184144659	184144659	Human		name
156218105	CV2084569	single nucleotide variant	NM_003907.3(EIF2B5):c.1455A>G (p.Pro485=)	not provided [RCV002853102]	likely benign	3	184142512	184142512	Human		name
156219058	CV2084619	single nucleotide variant	NM_003907.3(EIF2B5):c.224T>C (p.Leu75Ser)	not provided [RCV002853138]	uncertain significance	3	184136640	184136640	Human		name
156331497	CV2094838	single nucleotide variant	NM_003907.3(EIF2B5):c.1788G>A (p.Leu596=)	not provided [RCV002899951]	likely benign	3	184143484	184143484	Human		name
8596966	CV20981	single nucleotide variant	NM_003907.3(EIF2B5):c.271A>G (p.Thr91Ala)	Leukoencephalopathy with vanishing white matter 5 [RCV003221408]\|Vanishing white matter disease [RCV000006305]\|not provided [RCV000255738]	pathogenic\|likely pathogenic	3	184136687	184136687	Human	3	name
8596975	CV20990	single nucleotide variant	NM_003907.3(EIF2B5):c.166T>G (p.Phe56Val)	Leukoencephalopathy with vanishing white matter 5 [RCV003221417]\|not provided [RCV001851695]\|not specified [RCV004700193]	pathogenic\|likely pathogenic\|uncertain significance	3	184135551	184135551	Human	1	name
8596976	CV20991	single nucleotide variant	NM_003907.3(EIF2B5):c.167T>G (p.Phe56Cys)	Leukoencephalopathy with vanishing white matter 5 [RCV003221418]	pathogenic	3	184135552	184135552	Human	1	name
155998314	CV2106607	single nucleotide variant	NM_003907.3(EIF2B5):c.1728G>A (p.Leu576=)	not provided [RCV002947665]	likely benign	3	184143125	184143125	Human		name
156307184	CV2123182	single nucleotide variant	NM_003907.3(EIF2B5):c.1764T>C (p.Ser588=)	not provided [RCV002962422]	likely benign	3	184143460	184143460	Human		name
156278476	CV2137407	single nucleotide variant	NM_003907.3(EIF2B5):c.1503C>T (p.Gly501=)	not provided [RCV003009513]	uncertain significance	3	184142560	184142560	Human		name
155945216	CV2154689	single nucleotide variant	NM_003907.3(EIF2B5):c.1290C>A (p.Val430=)	not provided [RCV003014517]	likely benign	3	184142058	184142058	Human		name
156139369	CV2162074	single nucleotide variant	NM_003907.3(EIF2B5):c.1248T>C (p.Asn416=)	not provided [RCV003022466]	likely benign	3	184142016	184142016	Human		name
156053998	CV2165433	single nucleotide variant	NM_003907.3(EIF2B5):c.1839C>T (p.Asp613=)	not provided [RCV003019494]	likely benign	3	184143535	184143535	Human		name
243051201	CV2415705	single nucleotide variant	NM_003907.3(EIF2B5):c.185A>T (p.Asp62Val)	Vanishing white matter disease [RCV003148312]	uncertain significance	3	184135570	184135570	Human	2	name
11546810	CV251045	single nucleotide variant	NM_003907.3(EIF2B5):c.1614G>A (p.Pro538=)	not provided [RCV000898973]\|not specified [RCV000246950]	benign\|likely benign	3	184142846	184142846	Human		name
11550402	CV251046	single nucleotide variant	NM_003907.3(EIF2B5):c.1686G>A (p.Gln562=)	Vanishing white matter disease [RCV001148890]\|not provided [RCV000971873]\|not specified [RCV000251712]	benign\|likely benign	3	184143083	184143083	Human	2	name
11578441	CV269353	single nucleotide variant	NM_003907.3(EIF2B5):c.241G>A (p.Glu81Lys)	Vanishing white matter disease [RCV001833341]\|not provided [RCV000281339]	pathogenic\|likely pathogenic	3	184136657	184136657	Human	2	name
402477160	CV2853669	single nucleotide variant	NM_003907.3(EIF2B5):c.1857C>G (p.Ala619=)	not provided [RCV003543569]	likely benign	3	184143553	184143553	Human		name
402483916	CV2857482	single nucleotide variant	NM_003907.3(EIF2B5):c.1122C>T (p.Ile374=)	not provided [RCV003544291]	likely benign	3	184140696	184140696	Human		name
402482816	CV2860643	single nucleotide variant	NM_003907.3(EIF2B5):c.1551C>G (p.Leu517=)	not provided [RCV003544168]	likely benign	3	184142783	184142783	Human		name
405211128	CV2867974	single nucleotide variant	NM_003907.3(EIF2B5):c.1353G>A (p.Leu451=)	not provided [RCV003552614]	likely benign	3	184142287	184142287	Human		name
405221912	CV2880955	single nucleotide variant	NM_003907.3(EIF2B5):c.1407T>C (p.Ser469=)	not provided [RCV003554058]	likely benign	3	184142341	184142341	Human		name
11585584	CV289662	single nucleotide variant	NM_003907.3(EIF2B5):c.1341G>A (p.Ser447=)	Vanishing white matter disease [RCV000281968]\|not provided [RCV000946776]	benign\|likely benign	3	184142275	184142275	Human	2	name
405216847	CV2897207	single nucleotide variant	NM_003907.3(EIF2B5):c.1029C>T (p.Tyr343=)	not provided [RCV003567889]	likely benign	3	184140603	184140603	Human		name
405199859	CV2901237	single nucleotide variant	NM_003907.3(EIF2B5):c.1351T>C (p.Leu451=)	not provided [RCV003565782]	likely benign	3	184142285	184142285	Human		name
402483704	CV2922217	single nucleotide variant	NM_003907.3(EIF2B5):c.1422A>G (p.Glu474=)	not provided [RCV003572330]	likely benign	3	184142356	184142356	Human		name
405033222	CV2922440	single nucleotide variant	NM_003907.3(EIF2B5):c.1725C>T (p.Val575=)	not provided [RCV003578378]	likely benign	3	184143122	184143122	Human		name
405191581	CV2924721	single nucleotide variant	NM_003907.3(EIF2B5):c.1992C>T (p.Ala664=)	not provided [RCV003564846]	likely benign	3	184144221	184144221	Human		name
405030178	CV2926142	single nucleotide variant	NM_003907.3(EIF2B5):c.1233T>C (p.Ser411=)	not provided [RCV003578301]	likely benign	3	184142001	184142001	Human		name
405058027	CV2928896	duplication	NM_003907.3(EIF2B5):c.872dup (p.Thr292fs)	not provided [RCV003580265]	pathogenic	3	184140445	184140446	Human		name
11662306	CV294006	single nucleotide variant	NM_003907.3(EIF2B5):c.115C>G (p.Pro39Ala)	Vanishing white matter disease [RCV000384990]	uncertain significance	3	184135500	184135500	Human	2	name
11585849	CV294009	single nucleotide variant	NM_003907.3(EIF2B5):c.182A>G (p.Lys61Arg)	Vanishing white matter disease [RCV000283577]	uncertain significance	3	184135567	184135567	Human	2	name
405068912	CV2944710	single nucleotide variant	NM_003907.3(EIF2B5):c.2001G>C (p.Leu667=)	not provided [RCV003663860]	likely benign	3	184144602	184144602	Human		name
405116804	CV2953390	single nucleotide variant	NM_003907.3(EIF2B5):c.1065C>A (p.Ile355=)	not provided [RCV003667008]	likely benign	3	184140639	184140639	Human		name
405129711	CV2953456	single nucleotide variant	NM_003907.3(EIF2B5):c.1131T>C (p.Ser377=)	not provided [RCV003672229]	likely benign	3	184140705	184140705	Human		name
405137006	CV2954365	single nucleotide variant	NM_003907.3(EIF2B5):c.2133A>G (p.Lys711=)	not provided [RCV003672900]	likely benign	3	184144910	184144910	Human		name
405118899	CV2955820	single nucleotide variant	NM_003907.3(EIF2B5):c.1983T>C (p.Ile661=)	not provided [RCV003671189]	likely benign	3	184144212	184144212	Human		name
405130180	CV2962342	single nucleotide variant	NM_003907.3(EIF2B5):c.1236G>A (p.Leu412=)	not provided [RCV003668307]	likely benign	3	184142004	184142004	Human		name
402518660	CV2992311	single nucleotide variant	NM_003907.3(EIF2B5):c.1848C>T (p.Arg616=)	not provided [RCV003690026]	likely benign	3	184143544	184143544	Human		name
405025532	CV2999824	single nucleotide variant	NM_003907.3(EIF2B5):c.1608G>A (p.Glu536=)	not provided [RCV003695182]	likely benign	3	184142840	184142840	Human		name
405027485	CV2999957	single nucleotide variant	NM_003907.3(EIF2B5):c.1224C>T (p.Ile408=)	not provided [RCV003695247]	likely benign	3	184141992	184141992	Human		name
405122642	CV3003979	single nucleotide variant	NM_003907.3(EIF2B5):c.1863G>C (p.Leu621=)	not provided [RCV003723904]	likely benign	3	184143559	184143559	Human		name
405167690	CV3019102	single nucleotide variant	NM_003907.3(EIF2B5):c.1110C>T (p.Ser370=)	not provided [RCV003704437]	likely benign	3	184140684	184140684	Human		name
405094099	CV3022559	single nucleotide variant	NM_003907.3(EIF2B5):c.1786C>T (p.Leu596=)	not provided [RCV003699863]	likely benign	3	184143482	184143482	Human		name
405084509	CV3028199	single nucleotide variant	NM_003907.3(EIF2B5):c.2136G>A (p.Glu712=)	not provided [RCV003699280]	likely benign	3	184144913	184144913	Human		name
405076298	CV3031675	single nucleotide variant	NM_003907.3(EIF2B5):c.1905C>T (p.Tyr635=)	not provided [RCV003698616]	likely benign	3	184144134	184144134	Human		name
402513760	CV3039890	single nucleotide variant	NM_003907.3(EIF2B5):c.1917A>G (p.Ala639=)	not provided [RCV003715897]	likely benign	3	184144146	184144146	Human		name
405222324	CV3056950	single nucleotide variant	NM_003907.3(EIF2B5):c.1149C>T (p.Cys383=)	not provided [RCV003733503]	likely benign	3	184140723	184140723	Human		name
405227694	CV3065598	single nucleotide variant	NM_003907.3(EIF2B5):c.1644T>C (p.Asp548=)	not provided [RCV003734341]	likely benign	3	184142876	184142876	Human		name
405084226	CV3121936	single nucleotide variant	NM_003907.3(EIF2B5):c.2028G>A (p.Leu676=)	not provided [RCV003810691]	likely benign	3	184144629	184144629	Human		name
405091708	CV3122648	single nucleotide variant	NM_003907.3(EIF2B5):c.173C>G (p.Pro58Arg)	not provided [RCV003811213]	uncertain significance	3	184135558	184135558	Human		name
405009893	CV3127976	single nucleotide variant	NM_003907.3(EIF2B5):c.1999C>T (p.Leu667=)	not provided [RCV003828856]	likely benign	3	184144600	184144600	Human		name
405155252	CV3135237	single nucleotide variant	NM_003907.3(EIF2B5):c.1470T>C (p.Ala490=)	not provided [RCV003840349]	likely benign	3	184142527	184142527	Human		name
405207161	CV3162081	single nucleotide variant	NM_003907.3(EIF2B5):c.1234C>T (p.Leu412=)	not provided [RCV003861575]	likely benign	3	184142002	184142002	Human		name
405242854	CV3164645	single nucleotide variant	NM_003907.3(EIF2B5):c.1425G>A (p.Lys475=)	not provided [RCV003867726]	likely benign	3	184142359	184142359	Human		name
596943599	CV3544300	single nucleotide variant	NM_003907.3(EIF2B5):c.235A>C (p.Thr79Pro)	not specified [RCV004800780]	uncertain significance	3	184136651	184136651	Human		name
597965083	CV3751084	single nucleotide variant	NM_003907.3(EIF2B5):c.1902C>T (p.Asn634=)	not provided [RCV005082646]	likely benign	3	184144131	184144131	Human		name
597960877	CV3753137	single nucleotide variant	NM_003907.3(EIF2B5):c.1084C>T (p.Leu362=)	not provided [RCV005081637]	likely benign	3	184140658	184140658	Human		name
597837911	CV3763103	single nucleotide variant	NM_003907.3(EIF2B5):c.1095C>T (p.Gly365=)	not provided [RCV005110875]	likely benign	3	184140669	184140669	Human		name
597878170	CV3803909	single nucleotide variant	NM_003907.3(EIF2B5):c.1815G>A (p.Leu605=)	not provided [RCV005153454]	likely benign	3	184143511	184143511	Human		name
597878993	CV3806657	single nucleotide variant	NM_003907.3(EIF2B5):c.1680A>G (p.Thr560=)	not provided [RCV005154224]	likely benign	3	184143077	184143077	Human		name
598228164	CV3894597	single nucleotide variant	NM_003907.3(EIF2B5):c.1977T>G (p.Leu659=)	not provided [RCV005257841]	likely benign	3	184144206	184144206	Human		name
598179003	CV3961332	single nucleotide variant	NM_003907.3(EIF2B5):c.116C>G (p.Pro39Arg)	Inborn genetic diseases [RCV005332434]	uncertain significance	3	184135501	184135501	Human	1	name
617151507	CV4018037	single nucleotide variant	NM_003907.3(EIF2B5):c.236C>T (p.Thr79Ile)	not specified [RCV005417827]	uncertain significance	3	184136652	184136652	Human		name
15178495	CV708698	single nucleotide variant	NM_003907.3(EIF2B5):c.1329G>A (p.Leu443=)	Vanishing white matter disease [RCV001277567]\|not provided [RCV000973679]	likely benign	3	184142263	184142263	Human	2	name
15106718	CV708699	single nucleotide variant	NM_003907.3(EIF2B5):c.1956C>T (p.Phe652=)	EIF2B5-related disorder [RCV003905813]\|Vanishing white matter disease [RCV001150411]\|not provided [RCV000960138]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	184144185	184144185	Human	3	name , trait , alternate_id
15193521	CV720320	single nucleotide variant	NM_003907.3(EIF2B5):c.1914C>T (p.Arg638=)	Vanishing white matter disease [RCV001148895]\|not provided [RCV000888970]	likely benign\|uncertain significance	3	184144143	184144143	Human	2	name
15146407	CV733930	single nucleotide variant	NM_003907.3(EIF2B5):c.1044C>T (p.Val348=)	Vanishing white matter disease [RCV001273455]\|not provided [RCV000900319]	likely benign	3	184140618	184140618	Human	2	name
15195913	CV748127	single nucleotide variant	NM_003907.3(EIF2B5):c.1167G>A (p.Val389=)	Leukoencephalopathy with vanishing white matter 5 [RCV003492187]\|Vanishing white matter disease [RCV001836009]\|not provided [RCV000911549]	benign\|likely benign\|uncertain significance	3	184141935	184141935	Human	3	name
15179609	CV763758	single nucleotide variant	NM_003907.3(EIF2B5):c.1005C>T (p.Cys335=)	not provided [RCV000929683]	likely benign	3	184140579	184140579	Human		name
15187127	CV763759	single nucleotide variant	NM_003907.3(EIF2B5):c.1056T>C (p.His352=)	Vanishing white matter disease [RCV001146100]\|not provided [RCV000931565]	likely benign\|uncertain significance	3	184140630	184140630	Human	2	name
15190564	CV763760	single nucleotide variant	NM_003907.3(EIF2B5):c.1209G>A (p.Ala403=)	Vanishing white matter disease [RCV001273456]\|not provided [RCV000932554]	likely benign\|uncertain significance	3	184141977	184141977	Human	2	name
15202312	CV763761	single nucleotide variant	NM_003907.3(EIF2B5):c.1326G>A (p.Thr442=)	not provided [RCV000935910]	likely benign	3	184142260	184142260	Human		name
15176380	CV763762	single nucleotide variant	NM_003907.3(EIF2B5):c.1494A>G (p.Lys498=)	not provided [RCV000928904]	likely benign	3	184142551	184142551	Human		name
15144104	CV763763	single nucleotide variant	NM_003907.3(EIF2B5):c.1680A>T (p.Thr560=)	not provided [RCV000944355]	likely benign	3	184143077	184143077	Human		name
15127940	CV763764	single nucleotide variant	NM_003907.3(EIF2B5):c.1722C>T (p.Leu574=)	Vanishing white matter disease [RCV001273458]\|not provided [RCV000941630]	likely benign\|uncertain significance	3	184143119	184143119	Human	2	name
15132458	CV763765	single nucleotide variant	NM_003907.3(EIF2B5):c.1830C>T (p.Ser610=)	Vanishing white matter disease [RCV001826999]\|not provided [RCV000942403]	likely benign	3	184143526	184143526	Human	2	name
15143384	CV763766	single nucleotide variant	NM_003907.3(EIF2B5):c.1920C>T (p.Ala640=)	Vanishing white matter disease [RCV001275521]\|not provided [RCV000944236]	likely benign	3	184144149	184144149	Human	2	name
15137886	CV781623	single nucleotide variant	NM_003907.3(EIF2B5):c.1476C>A (p.Gly492=)	not provided [RCV000982378]	likely benign	3	184142533	184142533	Human		name
15126299	CV781624	single nucleotide variant	NM_003907.3(EIF2B5):c.1726C>T (p.Leu576=)	not provided [RCV000980346]	likely benign	3	184143123	184143123	Human		name
15130648	CV781625	single nucleotide variant	NM_003907.3(EIF2B5):c.1860G>A (p.Leu620=)	not provided [RCV000981077]	likely benign	3	184143556	184143556	Human		name
15137328	CV781626	single nucleotide variant	NM_003907.3(EIF2B5):c.1960C>T (p.Leu654=)	not provided [RCV000982271]	likely benign	3	184144189	184144189	Human		name
26890755	CV827769	single nucleotide variant	NM_003907.3(EIF2B5):c.291G>A (p.Trp97Ter)	not provided [RCV001059688]	pathogenic	3	184136707	184136707	Human		name
38598686	CV888462	single nucleotide variant	NM_003907.3(EIF2B5):c.134C>G (p.Ala45Gly)	Vanishing white matter disease [RCV001253969]\|not provided [RCV002570549]	uncertain significance	3	184135519	184135519	Human	2	name
126759271	CV1004620	single nucleotide variant	NM_003907.3(EIF2B5):c.858G>C (p.Gln286His)	Vanishing white matter disease [RCV001836297]\|not provided [RCV001318017]	uncertain significance	3	184140432	184140432	Human	2	name
127238115	CV1059696	single nucleotide variant	NM_003907.3(EIF2B5):c.361C>T (p.Arg121Ter)	not provided [RCV001382955]	pathogenic	3	184137660	184137660	Human		name
127268460	CV1059698	deletion	NM_003907.3(EIF2B5):c.1196del (p.Gly399fs)	not provided [RCV001382166]	pathogenic	3	184141962	184141962	Human		name
127248106	CV1059700	deletion	NM_003907.3(EIF2B5):c.1487del (p.Leu496fs)	not provided [RCV001384846]	pathogenic	3	184142544	184142544	Human		name
127230440	CV1087038	single nucleotide variant	NM_003907.3(EIF2B5):c.862C>G (p.His288Asp)	See cases [RCV001420330]	likely pathogenic	3	184140436	184140436	Human		name
150339509	CV1174803	single nucleotide variant	NM_003907.3(EIF2B5):c.913A>T (p.Met305Leu)	Leukoencephalopathy with vanishing white matter 5 [RCV005023189]\|Vanishing white matter disease [RCV002246422]\|not provided [RCV001543546]	pathogenic\|likely pathogenic	3	184140487	184140487	Human	3	name
150404277	CV1189281	single nucleotide variant	NM_003907.3(EIF2B5):c.385C>G (p.Arg129Gly)	Vanishing white matter disease [RCV001563912]	uncertain significance	3	184137684	184137684	Human	2	name
150404275	CV1189282	single nucleotide variant	NM_003907.3(EIF2B5):c.920C>T (p.Ser307Leu)	Vanishing white matter disease [RCV001563911]	uncertain significance	3	184140494	184140494	Human	2	name
150450970	CV1200400	deletion	NM_003907.3(EIF2B5):c.2090del (p.Leu697fs)	Vanishing white matter disease [RCV001580696]	uncertain significance	3	184144690	184144690	Human	2	name
150533296	CV1294162	single nucleotide variant	NM_003907.3(EIF2B5):c.965C>T (p.Thr322Ile)	not provided [RCV001758180]	uncertain significance	3	184140539	184140539	Human		name
150540472	CV1314597	single nucleotide variant	NM_003907.3(EIF2B5):c.385C>T (p.Arg129Ter)	Vanishing white matter disease [RCV001781030]	likely pathogenic	3	184137684	184137684	Human		name
151355807	CV1326991	single nucleotide variant	NM_003907.3(EIF2B5):c.820C>T (p.Arg274Ter)	not provided [RCV001822160]	pathogenic	3	184140134	184140134	Human		name
151862154	CV1354062	single nucleotide variant	NM_003907.3(EIF2B5):c.550A>T (p.Ile184Phe)	not provided [RCV001959357]	uncertain significance	3	184137941	184137941	Human		name
151791908	CV1354128	single nucleotide variant	NM_003907.3(EIF2B5):c.353A>G (p.Asn118Ser)	not provided [RCV001876591]	uncertain significance	3	184137652	184137652	Human		name
151880262	CV1360006	single nucleotide variant	NM_003907.3(EIF2B5):c.915G>T (p.Met305Ile)	not provided [RCV002036769]	likely pathogenic	3	184140489	184140489	Human		name
151802480	CV1369038	single nucleotide variant	NM_003907.3(EIF2B5):c.896G>T (p.Arg299Leu)	not provided [RCV002028228]	likely pathogenic	3	184140470	184140470	Human		name
151758700	CV1375510	single nucleotide variant	NM_003907.3(EIF2B5):c.905A>G (p.Asn302Ser)	not provided [RCV001969929]	uncertain significance	3	184140479	184140479	Human		name
151764470	CV1403152	single nucleotide variant	NM_003907.3(EIF2B5):c.805C>T (p.Arg269Ter)	not provided [RCV001914359]	pathogenic	3	184140119	184140119	Human		name
151801073	CV1404066	single nucleotide variant	NM_003907.3(EIF2B5):c.953T>C (p.Val318Ala)	not provided [RCV001973913]	uncertain significance	3	184140527	184140527	Human		name
151795667	CV1404442	single nucleotide variant	NM_003907.3(EIF2B5):c.722G>A (p.Arg241Gln)	not provided [RCV002011101]\|not specified [RCV004801126]	likely pathogenic\|uncertain significance	3	184138203	184138203	Human		name
151730304	CV1420482	single nucleotide variant	NM_003907.3(EIF2B5):c.664C>T (p.Arg222Trp)	Leukoencephalopathy with vanishing white matter 5 [RCV003493906]\|not provided [RCV002041126]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	184138055	184138055	Human	1	name
151827128	CV1426193	single nucleotide variant	NM_003907.3(EIF2B5):c.946C>T (p.Arg316Ter)	not provided [RCV001993342]	pathogenic	3	184140520	184140520	Human		name
151754021	CV1429427	single nucleotide variant	NM_003907.3(EIF2B5):c.406C>T (p.Arg136Cys)	not provided [RCV002007148]	pathogenic	3	184137705	184137705	Human		name
151725474	CV1437819	duplication	NM_003907.3(EIF2B5):c.702dup (p.Ser235Ter)	not provided [RCV001891661]	pathogenic	3	184138182	184138183	Human		name
151801279	CV1439289	single nucleotide variant	NM_003907.3(EIF2B5):c.805C>G (p.Arg269Gly)	not provided [RCV001990979]	likely pathogenic	3	184140119	184140119	Human		name
151756629	CV1449381	single nucleotide variant	NM_003907.3(EIF2B5):c.313C>T (p.His105Tyr)	not provided [RCV001986812]	uncertain significance	3	184136729	184136729	Human		name
151867716	CV1451466	deletion	NM_003907.3(EIF2B5):c.1129del (p.Ser377fs)	not provided [RCV001939374]	pathogenic	3	184140703	184140703	Human		name
151736246	CV1461673	single nucleotide variant	NM_003907.3(EIF2B5):c.412G>A (p.Val138Ile)	not provided [RCV001967653]	uncertain significance	3	184137711	184137711	Human		name
151870695	CV1466562	single nucleotide variant	NM_003907.3(EIF2B5):c.581C>T (p.Thr194Ile)	not provided [RCV001906437]	uncertain significance	3	184137972	184137972	Human		name
151718461	CV1469340	single nucleotide variant	NM_003907.3(EIF2B5):c.965C>G (p.Thr322Ser)	not provided [RCV002039700]	uncertain significance	3	184140539	184140539	Human		name
151793537	CV1482618	deletion	NM_003907.3(EIF2B5):c.1182del (p.Tyr395fs)	not provided [RCV002047330]	pathogenic	3	184141949	184141949	Human		name
151755408	CV1483985	deletion	NM_003907.3(EIF2B5):c.1590del (p.Glu530fs)	not provided [RCV001927929]	pathogenic	3	184142822	184142822	Human		name
151879688	CV1490916	single nucleotide variant	NM_003907.3(EIF2B5):c.383A>G (p.Tyr128Cys)	not provided [RCV001940837]	uncertain significance	3	184137682	184137682	Human		name
151874131	CV1493499	single nucleotide variant	NM_003907.3(EIF2B5):c.925G>A (p.Val309Ile)	not provided [RCV001906856]	uncertain significance	3	184140499	184140499	Human		name
152076819	CV1591973	single nucleotide variant	NM_003907.3(EIF2B5):c.445C>A (p.Leu149Ile)	Inborn genetic diseases [RCV003007097]\|not provided [RCV002112217]	likely benign\|uncertain significance	3	184137744	184137744	Human	1	name
152111189	CV1626139	single nucleotide variant	NM_003907.3(EIF2B5):c.700A>G (p.Ser234Gly)	not provided [RCV002153074]	likely benign	3	184138181	184138181	Human		name
152982928	CV1677779	single nucleotide variant	NM_003907.3(EIF2B5):c.889G>A (p.Gly297Ser)	Vanishing white matter disease [RCV002249932]	pathogenic	3	184140463	184140463	Human	2	name
155268686	CV1705513	single nucleotide variant	NM_003907.3(EIF2B5):c.799C>T (p.Gln267Ter)	not provided [RCV002286119]	pathogenic	3	184140113	184140113	Human		name
155642553	CV1707474	single nucleotide variant	NM_003907.3(EIF2B5):c.514C>T (p.Arg172Trp)	Vanishing white matter disease [RCV002288404]	uncertain significance	3	184137905	184137905	Human	2	name
155642554	CV1707475	single nucleotide variant	NM_003907.3(EIF2B5):c.667C>T (p.Arg223Cys)	Inborn genetic diseases [RCV004617032]\|Vanishing white matter disease [RCV002288405]	uncertain significance	3	184138058	184138058	Human	3	name
155946526	CV1872164	single nucleotide variant	NM_003907.3(EIF2B5):c.336C>G (p.Cys112Trp)	not provided [RCV003073881]	uncertain significance	3	184137635	184137635	Human		name
156197174	CV1889803	single nucleotide variant	NM_003907.3(EIF2B5):c.547A>G (p.Met183Val)	not provided [RCV003084080]	uncertain significance	3	184137938	184137938	Human		name
156029236	CV1893480	single nucleotide variant	NM_003907.3(EIF2B5):c.386G>T (p.Arg129Leu)	not provided [RCV003078019]	uncertain significance	3	184137685	184137685	Human		name
156354433	CV1894645	single nucleotide variant	NM_003907.3(EIF2B5):c.871G>A (p.Val291Ile)	not provided [RCV003091233]	uncertain significance	3	184140445	184140445	Human		name
156297920	CV1901071	single nucleotide variant	NM_003907.3(EIF2B5):c.601G>A (p.Val201Met)	not provided [RCV002599030]	uncertain significance	3	184137992	184137992	Human		name
10048151	CV192364	single nucleotide variant	NM_003907.3(EIF2B5):c.318A>T (p.Leu106Phe)	EIF2B5-related disorder [RCV004755790]\|Inborn genetic diseases [RCV000624816]\|Leukoencephalopathy with vanishing white matter 1 [RCV004576925]\|Leukoencephalopathy with vanishing white matter 5 [RCV005031708]\|Vanishing white matter disease [RCV000175759]\|not prov ... (more) ided [RCV000724783]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	184136734	184136734	Human	5	name , trait , alternate_id
156067950	CV1927967	single nucleotide variant	NM_003907.3(EIF2B5):c.515G>A (p.Arg172Gln)	Inborn genetic diseases [RCV004978733]\|Leukoencephalopathy with vanishing white matter 5 [RCV003492804]\|not provided [RCV002638505]	uncertain significance	3	184137906	184137906	Human	2	name
155912048	CV1935288	single nucleotide variant	NM_003907.3(EIF2B5):c.655C>G (p.Gln219Glu)	Vanishing white matter disease [RCV002510617]	uncertain significance	3	184138046	184138046	Human	2	name
156361815	CV2003244	single nucleotide variant	NM_003907.3(EIF2B5):c.625A>G (p.Thr209Ala)	not provided [RCV002676295]	uncertain significance	3	184138016	184138016	Human		name
156258305	CV2056964	single nucleotide variant	NM_003907.3(EIF2B5):c.521T>C (p.Leu174Pro)	not provided [RCV002791928]	uncertain significance	3	184137912	184137912	Human		name
156183183	CV2068591	single nucleotide variant	NM_003907.3(EIF2B5):c.765G>T (p.Gln255His)	not provided [RCV002851899]	uncertain significance	3	184138246	184138246	Human		name
156216795	CV2084504	deletion	NM_003907.3(EIF2B5):c.1484del (p.Tyr495fs)	not provided [RCV002853052]	pathogenic	3	184142541	184142541	Human		name
155984738	CV2094713	single nucleotide variant	NM_003907.3(EIF2B5):c.434G>A (p.Arg145His)	not provided [RCV002907870]	uncertain significance	3	184137733	184137733	Human		name
8596969	CV20984	single nucleotide variant	NM_003907.3(EIF2B5):c.338G>A (p.Arg113His)	EIF2B5-related disorder [RCV004755715]\|Inborn genetic diseases [RCV004018575]\|Leukoencephalopathy with vanishing white matter 5 [RCV003221411]\|See cases [RCV001420331]\|Vanishing white matter disease [RCV000006308]\|not provided [RCV000254893]	pathogenic	3	184137637	184137637	Human	4	name , trait , alternate_id
8596970	CV20985	single nucleotide variant	NM_003907.3(EIF2B5):c.584G>A (p.Arg195His)	Leukoencephalopathy with vanishing white matter 5 [RCV003221412]\|Vanishing white matter disease [RCV000006310]\|not provided [RCV001064868]	pathogenic	3	184137975	184137975	Human	3	name
8596971	CV20986	single nucleotide variant	NM_003907.3(EIF2B5):c.925G>C (p.Val309Leu)	Leukoencephalopathy with vanishing white matter 5 [RCV003221413]\|Vanishing white matter disease [RCV000006311]	pathogenic\|likely pathogenic\|not provided	3	184140499	184140499	Human	3	name
8596972	CV20987	single nucleotide variant	NM_003907.3(EIF2B5):c.583C>T (p.Arg195Cys)	Leukoencephalopathy with vanishing white matter 5 [RCV003221414]\|not provided [RCV002512827]	pathogenic\|likely pathogenic	3	184137974	184137974	Human	1	name
8596973	CV20988	single nucleotide variant	NM_003907.3(EIF2B5):c.545C>T (p.Thr182Met)	Leukoencephalopathy with vanishing white matter 5 [RCV003221415]\|Vanishing white matter disease [RCV003485519]\|not provided [RCV000416181]	pathogenic\|likely pathogenic	3	184137936	184137936	Human	3	name
8596974	CV20989	single nucleotide variant	NM_003907.3(EIF2B5):c.944G>A (p.Arg315His)	Leukoencephalopathy with vanishing white matter 5 [RCV003221416]\|Vanishing white matter disease [RCV000006314]\|not provided [RCV001070077]	pathogenic\|likely pathogenic	3	184140518	184140518	Human	3	name
156225195	CV2144449	single nucleotide variant	NM_003907.3(EIF2B5):c.722G>T (p.Arg241Leu)	not provided [RCV003007533]	likely pathogenic	3	184138203	184138203	Human		name
156232634	CV2153168	single nucleotide variant	NM_003907.3(EIF2B5):c.632G>C (p.Arg211Thr)	not provided [RCV003025702]	uncertain significance	3	184138023	184138023	Human		name
156124082	CV2185480	single nucleotide variant	NM_003907.3(EIF2B5):c.530A>G (p.Asn177Ser)	not provided [RCV003055582]	uncertain significance	3	184137921	184137921	Human		name
156261296	CV2216438	single nucleotide variant	NM_003907.3(EIF2B5):c.974C>T (p.Ala325Val)	Inborn genetic diseases [RCV002703040]	uncertain significance	3	184140548	184140548	Human	1	name
156002069	CV2287913	single nucleotide variant	NM_003907.3(EIF2B5):c.865A>G (p.Met289Val)	Inborn genetic diseases [RCV002865447]	uncertain significance	3	184140439	184140439	Human	1	name
155945732	CV2301299	single nucleotide variant	NM_003907.3(EIF2B5):c.661C>T (p.Leu221Phe)	Inborn genetic diseases [RCV002880185]	uncertain significance	3	184138052	184138052	Human	1	name
243053008	CV2418073	single nucleotide variant	NM_003907.3(EIF2B5):c.955T>C (p.Tyr319His)	Vanishing white matter disease [RCV003153138]	uncertain significance	3	184140529	184140529	Human	2	name
401856589	CV2752578	single nucleotide variant	NM_003907.3(EIF2B5):c.633G>C (p.Arg211Ser)	Leukoencephalopathy with vanishing white matter 1 [RCV003340916]	uncertain significance	3	184138024	184138024	Human	1	name
401899109	CV2783660	single nucleotide variant	NM_003907.3(EIF2B5):c.303A>C (p.Gln101His)	Inborn genetic diseases [RCV003377293]	uncertain significance	3	184136719	184136719	Human	1	name
401962576	CV2845222	single nucleotide variant	NM_003907.3(EIF2B5):c.386G>A (p.Arg129Gln)	not provided [RCV003482683]	uncertain significance	3	184137685	184137685	Human		name
405228626	CV2894624	single nucleotide variant	NM_003907.3(EIF2B5):c.915G>A (p.Met305Ile)	not provided [RCV003555114]	pathogenic	3	184140489	184140489	Human		name
405228654	CV2894629	deletion	NM_003907.3(EIF2B5):c.1813del (p.Leu605fs)	Leukoencephalopathy with vanishing white matter 5 [RCV005030112]\|not provided [RCV003555118]	pathogenic	3	184143505	184143505	Human	1	name
405110479	CV2894825	single nucleotide variant	NM_003907.3(EIF2B5):c.470C>G (p.Ser157Ter)	not provided [RCV003557829]	pathogenic	3	184137769	184137769	Human		name
11596151	CV294049	single nucleotide variant	NM_003907.3(EIF2B5):c.299C>T (p.Ala100Val)	Vanishing white matter disease [RCV000379117]\|not provided [RCV000998166]	conflicting interpretations of pathogenicity\|uncertain significance	3	184136715	184136715	Human	2	name
405133608	CV2959385	single nucleotide variant	NM_003907.3(EIF2B5):c.721C>T (p.Arg241Ter)	not provided [RCV003668600]	pathogenic	3	184138202	184138202	Human		name
405085774	CV3028392	single nucleotide variant	NM_003907.3(EIF2B5):c.655C>T (p.Gln219Ter)	not provided [RCV003699388]	pathogenic	3	184138046	184138046	Human		name
405245492	CV3051548	deletion	NM_003907.3(EIF2B5):c.1000del (p.Ser334fs)	not provided [RCV003720317]	pathogenic	3	184140574	184140574	Human		name
405229115	CV3075475	single nucleotide variant	NM_003907.3(EIF2B5):c.956A>G (p.Tyr319Cys)	not provided [RCV003734587]	uncertain significance	3	184140530	184140530	Human		name
405718948	CV3238542	single nucleotide variant	NM_003907.3(EIF2B5):c.518A>G (p.Lys173Arg)	Inborn genetic diseases [RCV004377737]	uncertain significance	3	184137909	184137909	Human	1	name
407498826	CV3438099	single nucleotide variant	NM_003907.3(EIF2B5):c.391C>G (p.Leu131Val)	Inborn genetic diseases [RCV004622586]	uncertain significance	3	184137690	184137690	Human	1	name
407572959	CV3498759	single nucleotide variant	NM_003907.3(EIF2B5):c.806G>C (p.Arg269Pro)	Vanishing white matter disease [RCV004699729]	likely pathogenic	3	184140120	184140120	Human	2	name
408389451	CV3524588	single nucleotide variant	NM_003907.3(EIF2B5):c.325T>G (p.Ser109Ala)	not provided [RCV004769483]	uncertain significance	3	184137624	184137624	Human		name
12742822	CV359499	single nucleotide variant	NM_003907.3(EIF2B5):c.895C>T (p.Arg299Cys)	not provided [RCV000414622]	likely pathogenic	3	184140469	184140469	Human		name
12742155	CV359528	single nucleotide variant	NM_003907.3(EIF2B5):c.896G>A (p.Arg299His)	Leukoencephalopathy with vanishing white matter 1 [RCV003338578]\|Vanishing white matter disease [RCV001275519]\|not provided [RCV000412998]	pathogenic\|likely pathogenic	3	184140470	184140470	Human	4	name
12848836	CV363644	single nucleotide variant	NM_003907.3(EIF2B5):c.613G>A (p.Val205Met)	Vanishing white matter disease [RCV001828391]\|not provided [RCV000419089]	uncertain significance	3	184138004	184138004	Human	2	name
12849985	CV367274	single nucleotide variant	NM_003907.3(EIF2B5):c.380T>C (p.Leu127Pro)	not provided [RCV000439475]	likely pathogenic	3	184137679	184137679	Human		name
597666990	CV3674407	single nucleotide variant	NM_003907.3(EIF2B5):c.367A>T (p.Ile123Phe)	Inborn genetic diseases [RCV004979616]	uncertain significance	3	184137666	184137666	Human	1	name
597716032	CV3721203	microsatellite	NM_003907.3(EIF2B5):c.-8AGA[2] (p.Met1del)	Leukoencephalopathy with vanishing white matter 5 [RCV005035196]	likely pathogenic	3	184135378	184135380	Human		name
597637833	CV3721205	single nucleotide variant	NM_003907.3(EIF2B5):c.913A>G (p.Met305Val)	Leukoencephalopathy with vanishing white matter 5 [RCV005024548]	likely pathogenic	3	184140487	184140487	Human	1	name
598178993	CV3961330	single nucleotide variant	NM_003907.3(EIF2B5):c.592G>A (p.Glu198Lys)	Inborn genetic diseases [RCV005332432]	uncertain significance	3	184137983	184137983	Human	1	name
598179035	CV3961338	single nucleotide variant	NM_003907.3(EIF2B5):c.760C>T (p.Pro254Ser)	Inborn genetic diseases [RCV005332440]	uncertain significance	3	184138241	184138241	Human	1	name
8604437	CV48675	single nucleotide variant	NM_003907.3(EIF2B5):c.808G>C (p.Asp270His)	Leukoencephalopathy with vanishing white matter 5 [RCV003221419]	pathogenic	3	184140122	184140122	Human	1	name
13797768	CV551286	single nucleotide variant	NM_003907.3(EIF2B5):c.349C>G (p.Leu117Val)	Vanishing white matter disease [RCV000678338]\|not provided [RCV001766454]	uncertain significance	3	184137648	184137648	Human	2	name
13832643	CV590049	single nucleotide variant	NM_003907.3(EIF2B5):c.943C>T (p.Arg315Cys)	Vanishing white matter disease [RCV002283510]\|not provided [RCV002535429]	pathogenic	3	184140517	184140517	Human	2	name
15015255	CV679861	single nucleotide variant	NM_003907.3(EIF2B5):c.337C>T (p.Arg113Cys)	Vanishing white matter disease [RCV000853414]\|not provided [RCV001377730]	pathogenic\|likely pathogenic	3	184137636	184137636	Human	2	name
21071276	CV790369	single nucleotide variant	NM_003907.3(EIF2B5):c.407G>A (p.Arg136His)	EIF2B5-related disorder [RCV003928634]\|Vanishing white matter disease [RCV000987370]\|not provided [RCV001385130]	pathogenic	3	184137706	184137706	Human	3	name , trait , alternate_id
28903823	CV888463	single nucleotide variant	NM_003907.3(EIF2B5):c.362G>A (p.Arg121Gln)	Vanishing white matter disease [RCV001144202]\|not provided [RCV002557078]	uncertain significance	3	184137661	184137661	Human	2	name
28872019	CV888465	single nucleotide variant	NM_003907.3(EIF2B5):c.662T>C (p.Leu221Pro)	Inborn genetic diseases [RCV004032744]\|Vanishing white matter disease [RCV001146098]	uncertain significance	3	184138053	184138053	Human	3	name
38462082	CV931855	single nucleotide variant	NM_003907.3(EIF2B5):c.806G>A (p.Arg269Gln)	Hereditary breast ovarian cancer syndrome [RCV004526089]\|Leukoencephalopathy with vanishing white matter 1 [RCV003389333]\|Leukoencephalopathy with vanishing white matter 5 [RCV005029769]\|Vanishing white matter disease [RCV002471047]\|not provided [RCV001212143]	pathogenic\|likely pathogenic	3	184140120	184140120	Human	5	name
38598288	CV964219	single nucleotide variant	NM_003907.3(EIF2B5):c.812A>G (p.Asp271Gly)	Vanishing white matter disease [RCV001253525]	likely pathogenic	3	184140126	184140126	Human	2	name
41408133	CV980775	single nucleotide variant	NM_003907.3(EIF2B5):c.468C>G (p.Ile156Met)	not provided [RCV001281613]	pathogenic\|likely pathogenic	3	184137767	184137767	Human		name
8641297	CV100281	single nucleotide variant	NM_003907.3(EIF2B5):c.1759A>G (p.Ile587Val)	Vanishing white matter disease [RCV000313724]\|not provided [RCV000711607]\|not specified [RCV000080353]	benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	3	184143455	184143455	Human	2	name
126741780	CV1016209	single nucleotide variant	NM_003907.3(EIF2B5):c.1485C>G (p.Tyr495Ter)	Vanishing white matter disease [RCV001329782]	pathogenic	3	184142542	184142542	Human	2	name
127265560	CV1059699	single nucleotide variant	NM_003907.3(EIF2B5):c.1201C>T (p.Arg401Ter)	not provided [RCV001381493]	pathogenic	3	184141969	184141969	Human		name
150404279	CV1189283	single nucleotide variant	NM_003907.3(EIF2B5):c.1325C>T (p.Thr442Met)	Vanishing white matter disease [RCV001563913]\|not provided [RCV002070394]\|not specified [RCV005408963]	likely benign\|uncertain significance	3	184142259	184142259	Human	2	name
150404273	CV1189284	single nucleotide variant	NM_003907.3(EIF2B5):c.1723G>A (p.Val575Ile)	Inborn genetic diseases [RCV004616755]\|Vanishing white matter disease [RCV001563910]	uncertain significance	3	184143120	184143120	Human	3	name
150420152	CV1197043	single nucleotide variant	NM_003907.3(EIF2B5):c.1280C>T (p.Pro427Leu)	Leukoencephalopathy with vanishing white matter 5 [RCV003883470]\|Vanishing white matter disease [RCV001827511]\|not provided [RCV001577488]	pathogenic\|likely pathogenic	3	184142048	184142048	Human	3	name
150534916	CV1311688	single nucleotide variant	NM_003907.3(EIF2B5):c.1153A>G (p.Ile385Val)	Vanishing white matter disease [RCV002482300]\|not provided [RCV004793517]\|not specified [RCV001779498]	uncertain significance	3	184140727	184140727	Human	2	name
151351569	CV1323575	single nucleotide variant	NM_003907.3(EIF2B5):c.2018T>C (p.Leu673Pro)	Vanishing white matter disease [RCV001806431]	likely pathogenic	3	184144619	184144619	Human	2	name
151818653	CV1337666	single nucleotide variant	NM_003907.3(EIF2B5):c.1150C>A (p.His384Asn)	not provided [RCV001919341]	uncertain significance	3	184140724	184140724	Human		name
151851972	CV1346121	single nucleotide variant	NM_003907.3(EIF2B5):c.1912C>T (p.Arg638Cys)	not provided [RCV001958117]	uncertain significance	3	184144141	184144141	Human		name
151799498	CV1347586	single nucleotide variant	NM_003907.3(EIF2B5):c.1063A>G (p.Ile355Val)	not provided [RCV002027956]	uncertain significance	3	184140637	184140637	Human		name
151786232	CV1348891	single nucleotide variant	NM_003907.3(EIF2B5):c.1942G>A (p.Ala648Thr)	not provided [RCV001897719]	uncertain significance	3	184144171	184144171	Human		name
151710744	CV1377094	single nucleotide variant	NM_003907.3(EIF2B5):c.1795G>A (p.Val599Met)	not provided [RCV001889329]	uncertain significance	3	184143491	184143491	Human		name
151733555	CV1386759	single nucleotide variant	NM_003907.3(EIF2B5):c.1714G>A (p.Asp572Asn)	not provided [RCV001911124]	uncertain significance	3	184143111	184143111	Human		name
151865455	CV1406117	single nucleotide variant	NM_003907.3(EIF2B5):c.1625G>C (p.Gly542Ala)	not provided [RCV001959769]	uncertain significance	3	184142857	184142857	Human		name
151752393	CV1407154	single nucleotide variant	NM_003907.3(EIF2B5):c.1886G>A (p.Ser629Asn)	not provided [RCV002023520]	uncertain significance	3	184144115	184144115	Human		name
151852394	CV1409266	single nucleotide variant	NM_003907.3(EIF2B5):c.1358C>T (p.Pro453Leu)	not provided [RCV001937534]	uncertain significance	3	184142292	184142292	Human		name
151719360	CV1421977	single nucleotide variant	NM_003907.3(EIF2B5):c.1655T>C (p.Val552Ala)	not provided [RCV001909484]	uncertain significance	3	184143052	184143052	Human		name
151892164	CV1422959	single nucleotide variant	NM_003907.3(EIF2B5):c.1041G>T (p.Glu347Asp)	Inborn genetic diseases [RCV004044112]\|not provided [RCV001943828]	uncertain significance	3	184140615	184140615	Human	1	name
151783424	CV1424539	single nucleotide variant	NM_003907.3(EIF2B5):c.1774G>A (p.Val592Met)	not provided [RCV001865173]	uncertain significance	3	184143470	184143470	Human		name
151871551	CV1451306	single nucleotide variant	NM_003907.3(EIF2B5):c.1884G>A (p.Trp628Ter)	not provided [RCV001960495]	pathogenic	3	184144113	184144113	Human		name
151787931	CV1471496	single nucleotide variant	NM_003907.3(EIF2B5):c.1289T>C (p.Val430Ala)	Vanishing white matter disease [RCV005406233]\|not provided [RCV001972751]	pathogenic\|likely pathogenic	3	184142057	184142057	Human	2	name
151857630	CV1500460	single nucleotide variant	NM_003907.3(EIF2B5):c.1013C>T (p.Ser338Phe)	not provided [RCV001938145]	uncertain significance	3	184140587	184140587	Human		name
151858433	CV1503614	single nucleotide variant	NM_003907.3(EIF2B5):c.2015A>G (p.Gln672Arg)	not provided [RCV001996822]	uncertain significance	3	184144616	184144616	Human		name
151757555	CV1514233	single nucleotide variant	NM_003907.3(EIF2B5):c.2030C>G (p.Ala677Gly)	not provided [RCV001948774]	uncertain significance	3	184144631	184144631	Human		name
152043113	CV1522338	single nucleotide variant	NM_003907.3(EIF2B5):c.1428C>G (p.Asp476Glu)	Inborn genetic diseases [RCV004045733]\|not provided [RCV002088217]	likely benign	3	184142362	184142362	Human	1	name
152089028	CV1563030	single nucleotide variant	NM_003907.3(EIF2B5):c.1613C>T (p.Pro538Leu)	not provided [RCV002113813]	likely benign	3	184142845	184142845	Human		name
153349304	CV1694187	single nucleotide variant	NM_003907.3(EIF2B5):c.1484A>G (p.Tyr495Cys)	Vanishing white matter disease [RCV002275696]	not provided	3	184142541	184142541	Human		name
155749133	CV1770891	single nucleotide variant	NM_003907.3(EIF2B5):c.2039C>T (p.Thr680Ile)	not provided [RCV002304330]	uncertain significance	3	184144640	184144640	Human		name
155797140	CV1863193	single nucleotide variant	NM_003907.3(EIF2B5):c.1264C>T (p.Arg422Ter)	Vanishing white matter disease [RCV002470467]	pathogenic	3	184142032	184142032	Human	2	name
156408825	CV1870335	single nucleotide variant	NM_003907.3(EIF2B5):c.1597A>G (p.Met533Val)	Inborn genetic diseases [RCV005333460]\|not provided [RCV003071421]	uncertain significance	3	184142829	184142829	Human	1	name
156344007	CV1871551	single nucleotide variant	NM_003907.3(EIF2B5):c.1283G>A (p.Arg428His)	not provided [RCV003064409]	uncertain significance	3	184142051	184142051	Human		name
155958704	CV1873559	single nucleotide variant	NM_003907.3(EIF2B5):c.2092C>T (p.Arg698Cys)	not provided [RCV003074570]	uncertain significance	3	184144693	184144693	Human		name
155954759	CV1876627	single nucleotide variant	NM_003907.3(EIF2B5):c.1807T>A (p.Phe603Ile)	not provided [RCV003074352]	uncertain significance	3	184143503	184143503	Human		name
156220678	CV1879241	single nucleotide variant	NM_003907.3(EIF2B5):c.1945A>G (p.Ile649Val)	not provided [RCV003058923]	uncertain significance	3	184144174	184144174	Human		name
156352026	CV1883264	single nucleotide variant	NM_003907.3(EIF2B5):c.1832C>G (p.Pro611Arg)	Inborn genetic diseases [RCV004071828]\|not provided [RCV003091053]	uncertain significance	3	184143528	184143528	Human	1	name
156403210	CV1885683	single nucleotide variant	NM_003907.3(EIF2B5):c.2093G>A (p.Arg698His)	Leukoencephalopathy with vanishing white matter 1 [RCV004577029]\|not provided [RCV003069426]	uncertain significance	3	184144694	184144694	Human	1	name
155975893	CV1886012	single nucleotide variant	NM_003907.3(EIF2B5):c.1921G>A (p.Asp641Asn)	not provided [RCV003075413]	uncertain significance	3	184144150	184144150	Human		name
155992396	CV1894461	single nucleotide variant	NM_003907.3(EIF2B5):c.1781A>G (p.Gln594Arg)	not provided [RCV003076175]	uncertain significance	3	184143477	184143477	Human		name
156356511	CV1894965	single nucleotide variant	NM_003907.3(EIF2B5):c.1375G>A (p.Asp459Asn)	not provided [RCV003091396]	uncertain significance	3	184142309	184142309	Human		name
156056769	CV1928795	single nucleotide variant	NM_003907.3(EIF2B5):c.1873C>G (p.Leu625Val)	not provided [RCV002620798]	uncertain significance	3	184144102	184144102	Human		name
156362968	CV1934759	single nucleotide variant	NM_003907.3(EIF2B5):c.1160A>G (p.Asp387Gly)	not provided [RCV002651766]	likely pathogenic	3	184141928	184141928	Human		name
156446569	CV1947913	single nucleotide variant	NM_003907.3(EIF2B5):c.1712G>A (p.Cys571Tyr)	not provided [RCV003118078]	uncertain significance	3	184143109	184143109	Human		name
156204952	CV2004405	single nucleotide variant	NM_003907.3(EIF2B5):c.1556T>A (p.Ile519Asn)	not provided [RCV002666630]	uncertain significance	3	184142788	184142788	Human		name
156158277	CV2009317	single nucleotide variant	NM_003907.3(EIF2B5):c.1778T>C (p.Met593Thr)	not provided [RCV002710074]	uncertain significance	3	184143474	184143474	Human		name
156123856	CV2012239	single nucleotide variant	NM_003907.3(EIF2B5):c.1988T>C (p.Met663Thr)	not provided [RCV002696143]	uncertain significance	3	184144217	184144217	Human		name
156012215	CV2016852	single nucleotide variant	NM_003907.3(EIF2B5):c.1593A>C (p.Gln531His)	not provided [RCV002734955]	uncertain significance	3	184142825	184142825	Human		name
155979106	CV2028703	single nucleotide variant	NM_003907.3(EIF2B5):c.1428C>A (p.Asp476Glu)	not provided [RCV002755242]	uncertain significance	3	184142362	184142362	Human		name
156035389	CV2029984	single nucleotide variant	NM_003907.3(EIF2B5):c.1309G>A (p.Val437Met)	not provided [RCV002735973]	uncertain significance	3	184142243	184142243	Human		name
156122410	CV2035973	single nucleotide variant	NM_003907.3(EIF2B5):c.1633C>T (p.Pro545Ser)	not provided [RCV002800280]	uncertain significance	3	184142865	184142865	Human		name
156142191	CV2040886	single nucleotide variant	NM_003907.3(EIF2B5):c.1462G>A (p.Val488Ile)	not provided [RCV002786563]	uncertain significance	3	184142519	184142519	Human		name
156261092	CV2057165	single nucleotide variant	NM_003907.3(EIF2B5):c.2161G>T (p.Asp721Tyr)	not provided [RCV002792020]	uncertain significance	3	184144938	184144938	Human		name
8596967	CV20982	single nucleotide variant	NM_003907.3(EIF2B5):c.1882T>C (p.Trp628Arg)	Leukoencephalopathy with vanishing white matter 5 [RCV003221409]	pathogenic	3	184144111	184144111	Human	1	name
8596968	CV20983	single nucleotide variant	NM_003907.3(EIF2B5):c.1157G>T (p.Gly386Val)	Leukoencephalopathy with vanishing white matter 5 [RCV003221410]	pathogenic\|likely pathogenic	3	184141925	184141925	Human	1	name
156095404	CV2102886	single nucleotide variant	NM_003907.3(EIF2B5):c.1832C>T (p.Pro611Leu)	Inborn genetic diseases [RCV004617106]\|Leukoencephalopathy with vanishing white matter 1 [RCV003340549]\|not provided [RCV002913196]	uncertain significance	3	184143528	184143528	Human	2	name
156103508	CV2132405	single nucleotide variant	NM_003907.3(EIF2B5):c.1622G>A (p.Arg541Gln)	Inborn genetic diseases [RCV004978442]\|not provided [RCV003002306]	uncertain significance	3	184142854	184142854	Human	1	name
156123095	CV2148151	single nucleotide variant	NM_003907.3(EIF2B5):c.2093G>T (p.Arg698Leu)	not provided [RCV003003059]	uncertain significance	3	184144694	184144694	Human		name
156115646	CV2209018	single nucleotide variant	NM_003907.3(EIF2B5):c.1561A>G (p.Met521Val)	Inborn genetic diseases [RCV002707494]	uncertain significance	3	184142793	184142793	Human	1	name
156340386	CV2268104	single nucleotide variant	NM_003907.3(EIF2B5):c.1498G>A (p.Ala500Thr)	Inborn genetic diseases [RCV002836227]	uncertain significance	3	184142555	184142555	Human	1	name
156224620	CV2399450	single nucleotide variant	NM_003907.3(EIF2B5):c.1588G>A (p.Glu530Lys)	Inborn genetic diseases [RCV002804959]	uncertain significance	3	184142820	184142820	Human	1	name
243058573	CV2409858	single nucleotide variant	NM_003907.3(EIF2B5):c.2049C>G (p.Ser683Arg)	Leukoencephalopathy with vanishing white matter 5 [RCV003492837]	uncertain significance	3	184144650	184144650	Human	1	name
243053198	CV2418149	single nucleotide variant	NM_003907.3(EIF2B5):c.1937T>C (p.Leu646Ser)	Vanishing white matter disease [RCV003153215]	uncertain significance	3	184144166	184144166	Human	2	name
243056744	CV2418921	single nucleotide variant	NM_003907.3(EIF2B5):c.2059C>T (p.Gln687Ter)	not specified [RCV003155889]	uncertain significance	3	184144660	184144660	Human		name
329392711	CV2471528	single nucleotide variant	NM_003907.3(EIF2B5):c.1357C>G (p.Pro453Ala)	Inborn genetic diseases [RCV003217937]	uncertain significance	3	184142291	184142291	Human	1	name
401829660	CV2747505	single nucleotide variant	NM_003907.3(EIF2B5):c.1646A>C (p.Asp549Ala)	not provided [RCV003328971]	uncertain significance	3	184142878	184142878	Human		name
401867583	CV2748937	single nucleotide variant	NM_003907.3(EIF2B5):c.1543T>G (p.Trp515Gly)	not specified [RCV003331759]	uncertain significance	3	184142600	184142600	Human		name
401856666	CV2749013	single nucleotide variant	NM_003907.3(EIF2B5):c.1360C>T (p.Pro454Ser)	Leukoencephalopathy with vanishing white matter 5 [RCV005036748]\|Vanishing white matter disease [RCV003331837]\|not provided [RCV003334088]	pathogenic\|likely pathogenic\|uncertain significance	3	184142294	184142294	Human	3	name
401856498	CV2752544	single nucleotide variant	NM_003907.3(EIF2B5):c.2065G>A (p.Asp689Asn)	Leukoencephalopathy with vanishing white matter 1 [RCV003340882]	uncertain significance	3	184144666	184144666	Human	1	name
401884527	CV2761821	single nucleotide variant	NM_003907.3(EIF2B5):c.1596T>G (p.Ser532Arg)	Inborn genetic diseases [RCV003366217]	uncertain significance	3	184142828	184142828	Human	1	name
404978183	CV2852311	single nucleotide variant	NM_003907.3(EIF2B5):c.1930G>T (p.Glu644Ter)	Vanishing white matter disease [RCV003486489]	pathogenic	3	184144159	184144159	Human	2	name
405229435	CV2894626	single nucleotide variant	NM_003907.3(EIF2B5):c.1274T>G (p.Leu425Arg)	not provided [RCV003555116]	uncertain significance	3	184142042	184142042	Human		name
405228647	CV2894627	single nucleotide variant	NM_003907.3(EIF2B5):c.1684C>T (p.Gln562Ter)	not provided [RCV003555117]	pathogenic	3	184143081	184143081	Human		name
11593435	CV290385	single nucleotide variant	NM_003907.3(EIF2B5):c.1529T>G (p.Leu510Arg)	Inborn genetic diseases [RCV002523254]\|Vanishing white matter disease [RCV000348605]	uncertain significance	3	184142586	184142586	Human	3	name
11598559	CV290386	single nucleotide variant	NM_003907.3(EIF2B5):c.1621C>T (p.Arg541Trp)	Vanishing white matter disease [RCV000407492]\|not provided [RCV002520114]	uncertain significance	3	184142853	184142853	Human	2	name
11664604	CV294051	single nucleotide variant	NM_003907.3(EIF2B5):c.1159G>C (p.Asp387His)	Vanishing white matter disease [RCV000407514]	uncertain significance	3	184141927	184141927	Human	2	name
11595441	CV294054	single nucleotide variant	NM_003907.3(EIF2B5):c.2002A>G (p.Met668Val)	Vanishing white matter disease [RCV000370751]\|not provided [RCV001861214]	uncertain significance	3	184144603	184144603	Human	2	name
405261832	CV3184872	single nucleotide variant	NM_003907.3(EIF2B5):c.1841C>G (p.Ser614Ter)	Leukoencephalopathy with vanishing white matter 5 [RCV003883483]	pathogenic	3	184143537	184143537	Human	1	name
405718911	CV3238538	single nucleotide variant	NM_003907.3(EIF2B5):c.1687C>T (p.Arg563Trp)	Inborn genetic diseases [RCV004377733]	uncertain significance	3	184143084	184143084	Human	1	name
405718920	CV3238539	single nucleotide variant	NM_003907.3(EIF2B5):c.1769A>G (p.Lys590Arg)	Inborn genetic diseases [RCV004377734]	uncertain significance	3	184143465	184143465	Human	1	name
405718930	CV3238540	single nucleotide variant	NM_003907.3(EIF2B5):c.1828T>C (p.Ser610Pro)	Inborn genetic diseases [RCV004377735]	uncertain significance	3	184143524	184143524	Human	1	name
405718939	CV3238541	single nucleotide variant	NM_003907.3(EIF2B5):c.1846C>T (p.Arg616Cys)	Inborn genetic diseases [RCV004377736]	uncertain significance	3	184143542	184143542	Human	1	name
405852928	CV3393356	single nucleotide variant	NM_003907.3(EIF2B5):c.2090T>G (p.Leu697Trp)	not provided [RCV004546086]	uncertain significance	3	184144691	184144691	Human		name
407498828	CV3438100	single nucleotide variant	NM_003907.3(EIF2B5):c.1099G>A (p.Val367Ile)	Inborn genetic diseases [RCV004622587]	uncertain significance	3	184140673	184140673	Human	1	name
407472216	CV3495231	single nucleotide variant	NM_003907.3(EIF2B5):c.1022A>G (p.Asn341Ser)	not specified [RCV004689506]	uncertain significance	3	184140596	184140596	Human		name
407573273	CV3499075	single nucleotide variant	NM_003907.3(EIF2B5):c.1003T>C (p.Cys335Arg)	not specified [RCV004700046]	uncertain significance	3	184140577	184140577	Human		name
596941948	CV3543847	single nucleotide variant	NM_003907.3(EIF2B5):c.1154T>C (p.Ile385Thr)	not specified [RCV004799836]	uncertain significance	3	184140728	184140728	Human		name
596943597	CV3544299	single nucleotide variant	NM_003907.3(EIF2B5):c.1688G>A (p.Arg563Gln)	not specified [RCV004800779]	uncertain significance	3	184143085	184143085	Human		name
12742991	CV361473	single nucleotide variant	NM_003907.3(EIF2B5):c.1077T>A (p.Asn359Lys)	not provided [RCV000415850]	uncertain significance	3	184140651	184140651	Human		name
12848975	CV367277	single nucleotide variant	NM_003907.3(EIF2B5):c.1016G>A (p.Arg339Gln)	Vanishing white matter disease [RCV000853416]\|not provided [RCV000421811]	pathogenic\|likely pathogenic\|not provided	3	184140590	184140590	Human	2	name
597666975	CV3674404	single nucleotide variant	NM_003907.3(EIF2B5):c.1981A>G (p.Ile661Val)	Inborn genetic diseases [RCV004979613]	uncertain significance	3	184144210	184144210	Human	1	name
597666981	CV3674405	single nucleotide variant	NM_003907.3(EIF2B5):c.1090T>C (p.Ser364Pro)	Inborn genetic diseases [RCV004979614]	likely benign	3	184140664	184140664	Human	1	name
597666986	CV3674406	single nucleotide variant	NM_003907.3(EIF2B5):c.1912C>A (p.Arg638Ser)	Inborn genetic diseases [RCV004979615]	uncertain significance	3	184144141	184144141	Human	1	name
597716013	CV3721206	single nucleotide variant	NM_003907.3(EIF2B5):c.1491G>A (p.Trp497Ter)	Leukoencephalopathy with vanishing white matter 5 [RCV005035198]	likely pathogenic	3	184142548	184142548	Human	1	name
597716001	CV3721207	single nucleotide variant	NM_003907.3(EIF2B5):c.1546G>T (p.Gly516Ter)	Leukoencephalopathy with vanishing white matter 5 [RCV005035199]	likely pathogenic	3	184142603	184142603	Human	1	name
597637844	CV3721209	single nucleotide variant	NM_003907.3(EIF2B5):c.1909A>T (p.Lys637Ter)	Leukoencephalopathy with vanishing white matter 5 [RCV005024550]	likely pathogenic	3	184144138	184144138	Human	1	name
597715991	CV3721210	single nucleotide variant	NM_003907.3(EIF2B5):c.2052G>A (p.Trp684Ter)	Leukoencephalopathy with vanishing white matter 5 [RCV005035200]	likely pathogenic	3	184144653	184144653	Human	1	name
597854700	CV3778904	single nucleotide variant	NM_003907.3(EIF2B5):c.2052G>C (p.Trp684Cys)	not provided [RCV005129249]	uncertain significance	3	184144653	184144653	Human		name
597846532	CV3787294	single nucleotide variant	NM_003907.3(EIF2B5):c.1261G>T (p.Glu421Ter)	not provided [RCV005122179]	pathogenic	3	184142029	184142029	Human		name
597878235	CV3803953	single nucleotide variant	NM_003907.3(EIF2B5):c.1847G>A (p.Arg616His)	not provided [RCV005153498]	uncertain significance	3	184143543	184143543	Human		name
598178998	CV3961331	single nucleotide variant	NM_003907.3(EIF2B5):c.1046G>T (p.Ser349Ile)	Inborn genetic diseases [RCV005332433]	uncertain significance	3	184140620	184140620	Human	1	name
598179009	CV3961333	single nucleotide variant	NM_003907.3(EIF2B5):c.1555A>G (p.Ile519Val)	Inborn genetic diseases [RCV005332435]	uncertain significance	3	184142787	184142787	Human	1	name
598179018	CV3961335	single nucleotide variant	NM_003907.3(EIF2B5):c.2005G>A (p.Ala669Thr)	Inborn genetic diseases [RCV005332437]	uncertain significance	3	184144606	184144606	Human	1	name
12895153	CV406160	single nucleotide variant	NM_003907.3(EIF2B5):c.1345A>T (p.Ile449Phe)	not provided [RCV000485403]	likely pathogenic	3	184142279	184142279	Human		name
12894504	CV406161	single nucleotide variant	NM_003907.3(EIF2B5):c.1946T>C (p.Ile649Thr)	Leukoencephalopathy with vanishing white matter 5 [RCV005034016]\|Vanishing white matter disease [RCV000763510]\|not provided [RCV000483052]	pathogenic\|likely pathogenic	3	184144175	184144175	Human	3	name
13518829	CV486342	single nucleotide variant	NM_003907.3(EIF2B5):c.1144G>A (p.Gly382Ser)	not provided [RCV000585146]	uncertain significance	3	184140718	184140718	Human		name
13612210	CV513941	single nucleotide variant	NM_003907.3(EIF2B5):c.2152T>C (p.Ser718Pro)	Leukoencephalopathy [RCV000626852]	uncertain significance	3	184144929	184144929	Human	2	name
13797765	CV551287	single nucleotide variant	NM_003907.3(EIF2B5):c.1265G>A (p.Arg422Gln)	Inborn genetic diseases [RCV002532178]\|Vanishing white matter disease [RCV000678339]\|not provided [RCV002544688]	likely benign\|uncertain significance	3	184142033	184142033	Human	3	name
13794531	CV552071	single nucleotide variant	NM_003907.3(EIF2B5):c.1268T>C (p.Val423Ala)	Vanishing white matter disease [RCV000679975]	uncertain significance	3	184142036	184142036	Human	2	name
13827393	CV581882	single nucleotide variant	NM_003907.3(EIF2B5):c.1030C>T (p.Arg344Ter)	Vanishing white matter disease [RCV000722109]\|not provided [RCV003558552]	pathogenic\|likely pathogenic	3	184140604	184140604	Human	2	name
13827406	CV581915	single nucleotide variant	NM_003907.3(EIF2B5):c.1010A>G (p.His337Arg)	Vanishing white matter disease [RCV000722142]\|not specified [RCV004702373]	likely pathogenic\|uncertain significance	3	184140584	184140584	Human	2	name
13832900	CV584125	single nucleotide variant	NM_003907.3(EIF2B5):c.1934C>T (p.Ala645Val)	EIF2B5-related disorder [RCV003918183]\|Vanishing white matter disease [RCV001825445]\|not provided [RCV000884486]\|not specified [RCV000727993]	likely benign	3	184144163	184144163	Human	3	name , trait , alternate_id
13835459	CV586718	single nucleotide variant	NM_003907.3(EIF2B5):c.1915G>A (p.Ala639Thr)	Inborn genetic diseases [RCV004972922]\|not provided [RCV000731275]	uncertain significance	3	184144144	184144144	Human	1	name
14745333	CV631109	single nucleotide variant	NM_003907.3(EIF2B5):c.1015C>T (p.Arg339Trp)	Leukoencephalopathy with vanishing white matter 5 [RCV003325978]\|Vanishing white matter disease [RCV000853415]\|not provided [RCV000824637]	pathogenic\|likely pathogenic\|not provided	3	184140589	184140589	Human	3	name
15015256	CV679862	single nucleotide variant	NM_003907.3(EIF2B5):c.1016G>C (p.Arg339Pro)	Vanishing white matter disease [RCV000853417]\|not provided [RCV001593061]	pathogenic	3	184140590	184140590	Human	2	name
15195916	CV748128	single nucleotide variant	NM_003907.3(EIF2B5):c.1608G>C (p.Glu536Asp)	Leukoencephalopathy with vanishing white matter 5 [RCV003492188]\|Vanishing white matter disease [RCV001273457]\|not provided [RCV000911550]	likely benign\|uncertain significance	3	184142840	184142840	Human	3	name
21071278	CV790370	single nucleotide variant	NM_003907.3(EIF2B5):c.1030C>G (p.Arg344Gly)	Vanishing white matter disease [RCV000987371]	likely pathogenic	3	184140604	184140604	Human	2	name
21068695	CV795369	single nucleotide variant	NM_003907.3(EIF2B5):c.1396A>C (p.Ser466Arg)	not provided [RCV000998167]	uncertain significance	3	184142330	184142330	Human		name
21404110	CV801606	single nucleotide variant	NM_003907.3(EIF2B5):c.1340C>T (p.Ser447Leu)	Vanishing white matter disease [RCV001004169]\|not provided [RCV001390107]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	3	184142274	184142274	Human	2	name
28905552	CV859241	single nucleotide variant	NM_003907.3(EIF2B5):c.1208C>T (p.Ala403Val)	Leukoencephalopathy with vanishing white matter 5 [RCV003493800]\|Vanishing white matter disease [RCV001833698]\|not provided [RCV001093263]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	3	184141976	184141976	Human	3	name
28872028	CV888466	single nucleotide variant	NM_003907.3(EIF2B5):c.1592A>G (p.Gln531Arg)	Vanishing white matter disease [RCV001146101]	uncertain significance	3	184142824	184142824	Human	2	name
28879098	CV888467	single nucleotide variant	NM_003907.3(EIF2B5):c.1709C>T (p.Ser570Phe)	Vanishing white matter disease [RCV001148891]	uncertain significance	3	184143106	184143106	Human	2	name
28879104	CV888468	single nucleotide variant	NM_003907.3(EIF2B5):c.1712G>T (p.Cys571Phe)	Vanishing white matter disease [RCV001148892]\|not provided [RCV002559432]	uncertain significance	3	184143109	184143109	Human	2	name
28879106	CV888469	single nucleotide variant	NM_003907.3(EIF2B5):c.1880C>T (p.Ala627Val)	Vanishing white matter disease [RCV001148893]	uncertain significance	3	184144109	184144109	Human	2	name
28879208	CV888470	single nucleotide variant	NM_003907.3(EIF2B5):c.1913G>A (p.Arg638His)	Inborn genetic diseases [RCV004032767]\|Vanishing white matter disease [RCV001148894]\|not provided [RCV002557198]	likely benign\|uncertain significance	3	184144142	184144142	Human	3	name
38463929	CV920516	single nucleotide variant	NM_003907.3(EIF2B5):c.2009T>C (p.Phe670Ser)	Vanishing white matter disease [RCV001199402]	pathogenic	3	184144610	184144610	Human	2	name
38487960	CV923111	single nucleotide variant	NM_003907.3(EIF2B5):c.1459G>A (p.Glu487Lys)	not provided [RCV001220962]	uncertain significance	3	184142516	184142516	Human		name
38485008	CV923112	single nucleotide variant	NM_003907.3(EIF2B5):c.1884G>T (p.Trp628Cys)	not provided [RCV001219682]	uncertain significance	3	184144113	184144113	Human		name
40904525	CV977838	single nucleotide variant	NM_003907.3(EIF2B5):c.1451A>G (p.Asn484Ser)	Vanishing white matter disease [RCV001277568]	uncertain significance	3	184142508	184142508	Human	2	name
41408134	CV980776	single nucleotide variant	NM_003907.3(EIF2B5):c.1165G>A (p.Val389Met)	not provided [RCV001281614]	likely pathogenic	3	184141933	184141933	Human		name
405066942	CV3030868	deletion	NM_003907.3(EIF2B5):c.200_206del (p.Leu67fs)	not provided [RCV003698085]	pathogenic	3	184136614	184136620	Human		name
127240498	CV1059697	duplication	NM_003907.3(EIF2B5):c.416_417dup (p.Ala140fs)	Leukoencephalopathy with vanishing white matter 5 [RCV005038186]\|not provided [RCV001383469]	pathogenic\|likely pathogenic	3	184137714	184137715	Human	1	name
156269175	CV2059748	microsatellite	NM_003907.3(EIF2B5):c.350_351del (p.Leu117fs)	not provided [RCV002806599]	pathogenic	3	184137645	184137646	Human		name
402481965	CV2940845	deletion	NM_003907.3(EIF2B5):c.439_442del (p.Asp147fs)	not provided [RCV003659730]	pathogenic	3	184137736	184137739	Human		name
127244587	CV1059701	microsatellite	NM_003907.3(EIF2B5):c.1543_1544del (p.Trp515fs)	not provided [RCV001384209]	pathogenic	3	184142598	184142599	Human		name
405067535	CV2944595	indel	NM_003907.3(EIF2B5):c.792delinsACA (p.Phe264fs)	not provided [RCV003663780]	pathogenic	3	184140106	184140106	Human		name
127336387	CV1113827	inversion	NM_003907.3(EIF2B5):c.1758_1759inv (p.Ile587Val)	not provided [RCV001474918]	likely benign	3	184143454	184143455	Human		name
13521437	CV495166	indel	NM_003907.3(EIF2B5):c.1590_1592delinsCC (p.Glu530fs)	not provided [RCV000599452]	pathogenic	3	184142822	184142824	Human		name
156149711	CV2052896	deletion	NM_003907.3(EIF2B5):c.487_492del (p.Arg163_Ala164del)	not provided [RCV002801251]	uncertain significance	3	184137784	184137789	Human		name
156280156	CV2053782	deletion	NM_003907.3(EIF2B5):c.1960del (p.Phe653_Leu654insTer)	Leukoencephalopathy with vanishing white matter 5 [RCV005027970]\|not provided [RCV002806962]	pathogenic\|likely pathogenic	3	184144188	184144188	Human	1	name
405006323	CV2929564	deletion	NM_003907.3(EIF2B5):c.692_702del (p.Leu230_Phe231insTer)	not provided [RCV003576364]	pathogenic	3	184138171	184138181	Human		name
156037169	CV2150280	indel	NM_003907.3(EIF2B5):c.1694delinsTTTCTTGTGCATCTCCACTACAGAGGAGCGGGGCATCTCCACTAC (p.Lys565fs)	Vanishing white matter disease [RCV003223440]\|not provided [RCV003018917]	pathogenic	3	184143091	184143091	Human		name

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