Eif2b2 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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311 records found for search term Eif2b2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11548303	CV255062	single nucleotide variant	NM_014239.4(EIF2B2):c.*3G>C	Lynch syndrome [RCV000367065]\|Vanishing white matter disease [RCV000356744]\|not provided [RCV004703547]\|not specified [RCV000248911]	likely benign	14	75009191	75009191	Human	3	name
11665490	CV321363	single nucleotide variant	NM_014239.4(EIF2B2):c.*56C>T	Lynch syndrome [RCV000275001]\|Vanishing white matter disease [RCV000331175]	likely benign	14	75009244	75009244	Human	3	name
11621423	CV330581	single nucleotide variant	NM_014239.4(EIF2B2):c.-60A>G	Vanishing white matter disease [RCV000348608]	uncertain significance	14	75002931	75002931	Human	2	name
11612693	CV337216	single nucleotide variant	NM_014239.4(EIF2B2):c.*48A>C	Vanishing white matter disease [RCV000261871]	uncertain significance	14	75009236	75009236	Human	2	name
11624952	CV339139	single nucleotide variant	NM_014239.4(EIF2B2):c.-56T>C	Vanishing white matter disease [RCV000392573]\|not provided [RCV004693191]	uncertain significance	14	75002935	75002935	Human	2	name
28892805	CV872623	single nucleotide variant	NM_014239.4(EIF2B2):c.-30C>G	Vanishing white matter disease [RCV001121471]	uncertain significance	14	75002961	75002961	Human	2	name
11606466	CV321372	single nucleotide variant	NM_014239.4(EIF2B2):c.*388C>T	Vanishing white matter disease [RCV000332100]	uncertain significance	14	75009576	75009576	Human	2	name
11624392	CV330598	single nucleotide variant	NM_014239.4(EIF2B2):c.*169C>T	Vanishing white matter disease [RCV000385646]	uncertain significance	14	75009357	75009357	Human	2	name
11665812	CV339147	single nucleotide variant	NM_014239.4(EIF2B2):c.*180G>C	Lynch syndrome [RCV000299748]\|Vanishing white matter disease [RCV000295805]\|not provided [RCV001613003]	benign\|likely benign	14	75009368	75009368	Human	3	name
28887227	CV872630	single nucleotide variant	NM_014239.4(EIF2B2):c.*241C>T	Vanishing white matter disease [RCV001119565]	uncertain significance	14	75009429	75009429	Human	2	name
28887232	CV872631	single nucleotide variant	NM_014239.4(EIF2B2):c.*283T>C	Vanishing white matter disease [RCV001119566]	uncertain significance	14	75009471	75009471	Human	2	name
150406374	CV1194869	single nucleotide variant	NM_014239.4(EIF2B2):c.285-1G>A	Leukoencephalopathy with vanishing white matter 2 [RCV005005970]\|Vanishing white matter disease [RCV003235589]\|not provided [RCV001572007]	likely pathogenic	14	75003550	75003550	Human	3	name
150544119	CV1313117	single nucleotide variant	NM_014239.4(EIF2B2):c.694-1G>C	Vanishing white matter disease [RCV001783195]	pathogenic	14	75006576	75006576	Human		name
156410011	CV1962069	single nucleotide variant	NM_014239.4(EIF2B2):c.285-7T>A	not provided [RCV002587018]	likely benign	14	75003544	75003544	Human		name
156323723	CV1976394	single nucleotide variant	NM_014239.4(EIF2B2):c.284+6G>A	not provided [RCV002600397]	uncertain significance	14	75003401	75003401	Human		name
156166701	CV1993315	single nucleotide variant	NM_014239.4(EIF2B2):c.832-2A>T	not provided [RCV002642599]	likely pathogenic	14	75007720	75007720	Human		name
156011167	CV2016622	single nucleotide variant	NM_014239.4(EIF2B2):c.433+9C>A	not provided [RCV002734902]	likely benign	14	75003708	75003708	Human		name
156290697	CV2055185	single nucleotide variant	NM_014239.4(EIF2B2):c.284+8T>C	not provided [RCV002833192]	likely benign	14	75003403	75003403	Human		name
405134032	CV2950017	single nucleotide variant	NM_014239.4(EIF2B2):c.285-5T>A	not provided [RCV003672505]	likely benign	14	75003546	75003546	Human		name
405121642	CV2952520	single nucleotide variant	NM_014239.4(EIF2B2):c.832-2A>G	Leukoencephalopathy with vanishing white matter 2 [RCV005013084]\|not provided [RCV003671534]	likely pathogenic	14	75007720	75007720	Human	1	name
404988441	CV2998439	single nucleotide variant	NM_014239.4(EIF2B2):c.598-8C>T	not provided [RCV003692014]	likely benign	14	75005858	75005858	Human		name
405210274	CV3034259	single nucleotide variant	NM_014239.4(EIF2B2):c.163+1G>A	not provided [RCV003708467]	likely pathogenic	14	75003154	75003154	Human		name
405246400	CV3051764	single nucleotide variant	NM_014239.4(EIF2B2):c.285-4A>T	not provided [RCV003720449]	likely benign	14	75003547	75003547	Human		name
405163200	CV3062634	single nucleotide variant	NM_014239.4(EIF2B2):c.694-4A>C	not provided [RCV003727156]	likely benign	14	75006573	75006573	Human		name
405151775	CV3063747	single nucleotide variant	NM_014239.4(EIF2B2):c.433+8G>T	not provided [RCV003726413]	likely benign	14	75003707	75003707	Human		name
405177913	CV3123487	single nucleotide variant	NM_014239.4(EIF2B2):c.164-4G>C	not provided [RCV003819696]	likely benign	14	75003271	75003271	Human		name
405160801	CV3125066	single nucleotide variant	NM_014239.4(EIF2B2):c.164-4G>A	not provided [RCV003818337]	likely benign	14	75003271	75003271	Human		name
405115499	CV3134184	single nucleotide variant	NM_014239.4(EIF2B2):c.694-5C>T	not provided [RCV003836786]	likely benign	14	75006572	75006572	Human		name
405076632	CV3140829	single nucleotide variant	NM_014239.4(EIF2B2):c.163+8C>T	not provided [RCV003833792]	likely benign	14	75003161	75003161	Human		name
405169967	CV3149896	single nucleotide variant	NM_014239.4(EIF2B2):c.899-8C>T	not provided [RCV003841367]	likely benign	14	75009023	75009023	Human		name
405201567	CV3164909	single nucleotide variant	NM_014239.4(EIF2B2):c.434-7C>G	not provided [RCV003860770]	likely benign	14	75004730	75004730	Human		name
150452556	CV1219727	single nucleotide variant	NM_014239.4(EIF2B2):c.434-35T>A	not provided [RCV001612108]	benign	14	75004702	75004702	Human		name
150467855	CV1220086	single nucleotide variant	NM_014239.4(EIF2B2):c.434-46T>A	not provided [RCV001614577]	benign	14	75004691	75004691	Human		name
150444193	CV1232981	single nucleotide variant	NM_014239.4(EIF2B2):c.434-37T>A	not provided [RCV001645653]	benign	14	75004700	75004700	Human		name
150473134	CV1235176	single nucleotide variant	NM_014239.4(EIF2B2):c.434-40T>A	not provided [RCV001651545]	benign	14	75004697	75004697	Human		name
150459009	CV1236024	single nucleotide variant	NM_014239.4(EIF2B2):c.434-39T>A	not provided [RCV001648995]	benign	14	75004698	75004698	Human		name
150456441	CV1249617	single nucleotide variant	NM_014239.4(EIF2B2):c.434-41T>A	not provided [RCV001668832]	benign	14	75004696	75004696	Human		name
150450126	CV1260917	single nucleotide variant	NM_014239.4(EIF2B2):c.434-38T>A	not provided [RCV001680586]	benign	14	75004699	75004699	Human		name
150484958	CV1261995	single nucleotide variant	NM_014239.4(EIF2B2):c.434-42T>A	not provided [RCV001686686]	benign	14	75004695	75004695	Human		name
150465265	CV1268581	single nucleotide variant	NM_014239.4(EIF2B2):c.434-43T>A	not provided [RCV001694277]	benign	14	75004694	75004694	Human		name
150473794	CV1272229	single nucleotide variant	NM_014239.4(EIF2B2):c.434-44T>A	not provided [RCV001695767]	benign	14	75004693	75004693	Human		name
150509163	CV1284467	single nucleotide variant	NM_014239.4(EIF2B2):c.434-32T>A	not provided [RCV001720575]	benign	14	75004705	75004705	Human		name
150511839	CV1284796	single nucleotide variant	NM_014239.4(EIF2B2):c.434-36T>A	not provided [RCV001721665]	benign	14	75004701	75004701	Human		name
151822637	CV1466135	single nucleotide variant	NM_014239.4(EIF2B2):c.285-19G>A	not provided [RCV001879362]	uncertain significance	14	75003532	75003532	Human		name
152126364	CV1533776	single nucleotide variant	NM_014239.4(EIF2B2):c.831+11C>G	not provided [RCV002136369]	likely benign	14	75006725	75006725	Human		name
152158973	CV1544312	single nucleotide variant	NM_014239.4(EIF2B2):c.284+16T>A	not provided [RCV002122856]	benign	14	75003411	75003411	Human		name
152029834	CV1568701	single nucleotide variant	NM_014239.4(EIF2B2):c.898+13T>C	not provided [RCV002186290]	likely benign	14	75007801	75007801	Human		name
152154273	CV1593008	single nucleotide variant	NM_014239.4(EIF2B2):c.832-17A>C	not provided [RCV002202447]	likely benign	14	75007705	75007705	Human		name
152033794	CV1610452	single nucleotide variant	NM_014239.4(EIF2B2):c.434-16A>G	not provided [RCV002124995]	benign	14	75004721	75004721	Human		name
152168916	CV1626425	single nucleotide variant	NM_014239.4(EIF2B2):c.285-10G>A	not provided [RCV002182612]	likely benign	14	75003541	75003541	Human		name
152079882	CV1632537	deletion	NM_014239.4(EIF2B2):c.434-11del	not provided [RCV002130693]	likely benign	14	75004725	75004725	Human		name
152067759	CV1647233	single nucleotide variant	NM_014239.4(EIF2B2):c.598-18C>T	not provided [RCV002129199]	likely benign	14	75005848	75005848	Human		name
152115241	CV1653499	single nucleotide variant	NM_014239.4(EIF2B2):c.164-16C>T	not provided [RCV002153570]	benign	14	75003259	75003259	Human		name
156396567	CV1985210	single nucleotide variant	NM_014239.4(EIF2B2):c.163+19C>T	not provided [RCV002635534]	likely benign	14	75003172	75003172	Human		name
156204307	CV2004353	single nucleotide variant	NM_014239.4(EIF2B2):c.832-15T>G	not provided [RCV002666608]	likely benign	14	75007707	75007707	Human		name
156146704	CV2128225	single nucleotide variant	NM_014239.4(EIF2B2):c.434-10G>A	not provided [RCV002928759]	likely benign	14	75004727	75004727	Human		name
11552209	CV255061	single nucleotide variant	NM_014239.4(EIF2B2):c.433+44C>A	not provided [RCV001640547]\|not specified [RCV000254066]	benign	14	75003743	75003743	Human		name
405171578	CV2854282	single nucleotide variant	NM_014239.4(EIF2B2):c.831+18T>C	not provided [RCV003542097]	likely benign	14	75006732	75006732	Human		name
405241386	CV2889232	single nucleotide variant	NM_014239.4(EIF2B2):c.163+16C>T	not provided [RCV003557331]	likely benign	14	75003169	75003169	Human		name
405004587	CV2929284	single nucleotide variant	NM_014239.4(EIF2B2):c.163+10G>C	not provided [RCV003576209]	likely benign	14	75003163	75003163	Human		name
405113419	CV2939171	single nucleotide variant	NM_014239.4(EIF2B2):c.164-13T>G	not provided [RCV003666612]	likely benign	14	75003262	75003262	Human		name
402507956	CV2944449	single nucleotide variant	NM_014239.4(EIF2B2):c.285-12T>C	not provided [RCV003662199]	likely benign	14	75003539	75003539	Human		name
402512000	CV2948317	single nucleotide variant	NM_014239.4(EIF2B2):c.433+16G>A	not provided [RCV003662594]	likely benign	14	75003715	75003715	Human		name
405138646	CV2954490	single nucleotide variant	NM_014239.4(EIF2B2):c.433+12G>A	not provided [RCV003672968]	likely benign	14	75003711	75003711	Human		name
405195433	CV2982197	single nucleotide variant	NM_014239.4(EIF2B2):c.694-14G>T	not provided [RCV003706802]	likely benign	14	75006563	75006563	Human		name
405019300	CV2991937	single nucleotide variant	NM_014239.4(EIF2B2):c.284+20C>T	not provided [RCV003694619]	likely benign	14	75003415	75003415	Human		name
402516353	CV2992091	single nucleotide variant	NM_014239.4(EIF2B2):c.832-16A>T	not provided [RCV003689904]	likely benign	14	75007706	75007706	Human		name
405115593	CV3000021	single nucleotide variant	NM_014239.4(EIF2B2):c.831+17C>T	not provided [RCV003723223]	likely benign	14	75006731	75006731	Human		name
404979590	CV3009660	single nucleotide variant	NM_014239.4(EIF2B2):c.285-10G>T	not provided [RCV003691005]	likely benign	14	75003541	75003541	Human		name
405179519	CV3027563	single nucleotide variant	NM_014239.4(EIF2B2):c.433+17C>T	not provided [RCV003705304]	likely benign	14	75003716	75003716	Human		name
402484545	CV3036684	single nucleotide variant	NM_014239.4(EIF2B2):c.831+17C>G	not provided [RCV003713082]	likely benign	14	75006731	75006731	Human		name
402485861	CV3036878	single nucleotide variant	NM_014239.4(EIF2B2):c.285-19G>T	not provided [RCV003713192]	likely benign	14	75003532	75003532	Human		name
405184295	CV3040214	single nucleotide variant	NM_014239.4(EIF2B2):c.164-12T>A	not provided [RCV003705862]	likely benign	14	75003263	75003263	Human		name
405086322	CV3122003	single nucleotide variant	NM_014239.4(EIF2B2):c.898+16G>T	not provided [RCV003810758]	likely benign	14	75007804	75007804	Human		name
405148663	CV3123191	single nucleotide variant	NM_014239.4(EIF2B2):c.163+16C>G	not provided [RCV003817424]	likely benign	14	75003169	75003169	Human		name
405162066	CV3125104	single nucleotide variant	NM_014239.4(EIF2B2):c.433+16G>T	not provided [RCV003818375]	likely benign	14	75003715	75003715	Human		name
405196428	CV3128711	single nucleotide variant	NM_014239.4(EIF2B2):c.832-11T>A	not provided [RCV003821449]	likely benign	14	75007711	75007711	Human		name
405142374	CV3131254	single nucleotide variant	NM_014239.4(EIF2B2):c.832-19T>C	not provided [RCV003839294]	likely benign	14	75007703	75007703	Human		name
405167117	CV3149408	single nucleotide variant	NM_014239.4(EIF2B2):c.434-18G>T	not provided [RCV003841070]	likely benign	14	75004719	75004719	Human		name
405157764	CV3152505	single nucleotide variant	NM_014239.4(EIF2B2):c.832-11T>C	not provided [RCV003840432]	likely benign	14	75007711	75007711	Human		name
405236279	CV3166378	single nucleotide variant	NM_014239.4(EIF2B2):c.899-18T>C	not provided [RCV003853827]	likely benign	14	75009013	75009013	Human		name
405237468	CV3166891	single nucleotide variant	NM_014239.4(EIF2B2):c.164-17T>C	not provided [RCV003854145]	likely benign	14	75003258	75003258	Human		name
405087112	CV3167359	single nucleotide variant	NM_014239.4(EIF2B2):c.899-20C>T	not provided [RCV003851940]	likely benign	14	75009011	75009011	Human		name
404985290	CV3183755	single nucleotide variant	NM_014239.4(EIF2B2):c.163+18C>T	not provided [RCV003881032]	likely benign	14	75003171	75003171	Human		name
11607561	CV321350	single nucleotide variant	NM_014239.4(EIF2B2):c.433+15C>T	Vanishing white matter disease [RCV000345113]\|not provided [RCV002522331]	likely benign\|uncertain significance	14	75003714	75003714	Human	2	name
11625955	CV330587	single nucleotide variant	NM_014239.4(EIF2B2):c.434-11C>T	Vanishing white matter disease [RCV000404754]\|not provided [RCV002061166]	benign\|uncertain significance	14	75004726	75004726	Human	2	name
11622426	CV337214	single nucleotide variant	NM_014239.4(EIF2B2):c.899-13G>A	Vanishing white matter disease [RCV000360328]\|not provided [RCV003765828]	likely benign\|uncertain significance	14	75009018	75009018	Human	2	name
11612581	CV339143	single nucleotide variant	NM_014239.4(EIF2B2):c.899-11T>G	Vanishing white matter disease [RCV000260828]\|not provided [RCV001513438]	benign\|likely benign\|uncertain significance	14	75009020	75009020	Human	2	name
597943513	CV3765828	single nucleotide variant	NM_014239.4(EIF2B2):c.164-10T>G	not provided [RCV005119206]	likely benign	14	75003265	75003265	Human		name
597945908	CV3787018	single nucleotide variant	NM_014239.4(EIF2B2):c.694-16T>C	not provided [RCV005119838]	likely benign	14	75006561	75006561	Human		name
597971183	CV3832620	single nucleotide variant	NM_014239.4(EIF2B2):c.597+20T>C	not provided [RCV005166699]	likely benign	14	75004920	75004920	Human		name
150484172	CV1245242	single nucleotide variant	NM_014239.4(EIF2B2):c.597+200G>A	not provided [RCV001653419]	benign	14	75005100	75005100	Human		name
150475751	CV1251761	single nucleotide variant	NM_014239.4(EIF2B2):c.597+199C>T	not provided [RCV001671959]	benign	14	75005099	75005099	Human		name
405148956	CV2960259	microsatellite	NM_014239.4(EIF2B2):c.164-20CT[3]	not provided [RCV003669913]	likely benign	14	75003255	75003256	Human		name
402468123	CV2910636	deletion	NM_014239.4(EIF2B2):c.421_433+19del	not provided [RCV003569748]	likely pathogenic	14	75003683	75003714	Human		name
156118366	CV2055184	deletion	NM_014239.4(EIF2B2):c.284+5_284+7del	not provided [RCV002825201]	uncertain significance	14	75003400	75003402	Human		name
405241598	CV2970808	single nucleotide variant	NM_014239.4(EIF2B2):c.6G>A (p.Pro2=)	not provided [RCV003684154]	likely benign	14	75002996	75002996	Human		name
405095968	CV3055485	single nucleotide variant	NM_014239.4(EIF2B2):c.9A>T (p.Gly3=)	not provided [RCV003718093]	likely benign	14	75002999	75002999	Human		name
405112912	CV2939066	single nucleotide variant	NM_014239.4(EIF2B2):c.12C>G (p.Ser4=)	not provided [RCV003666548]	likely benign	14	75003002	75003002	Human		name
597953713	CV3808912	single nucleotide variant	NM_014239.4(EIF2B2):c.24C>T (p.Gly8=)	not provided [RCV005161830]	likely benign	14	75003014	75003014	Human		name
15112917	CV754159	single nucleotide variant	NM_014239.4(EIF2B2):c.15A>C (p.Ala5=)	not provided [RCV000917000]	likely benign	14	75003005	75003005	Human		name
155799846	CV1862653	single nucleotide variant	NM_014239.4(EIF2B2):c.1A>G (p.Met1Val)	Leukoencephalopathy with vanishing white matter 1 [RCV004786720]	uncertain significance	14	75002991	75002991	Human	1	name
156284078	CV2012648	single nucleotide variant	NM_014239.4(EIF2B2):c.81G>A (p.Gly27=)	not provided [RCV002715396]	likely benign	14	75003071	75003071	Human		name
156228661	CV2019564	single nucleotide variant	NM_014239.4(EIF2B2):c.63C>T (p.Thr21=)	not provided [RCV002701275]	likely benign	14	75003053	75003053	Human		name
156120677	CV2128511	deletion	NM_014239.4(EIF2B2):c.434-18_434-10del	not provided [RCV002953485]	likely benign	14	75004719	75004727	Human		name
156232321	CV2227674	single nucleotide variant	NM_014239.4(EIF2B2):c.5C>T (p.Pro2Leu)	Inborn genetic diseases [RCV002712841]	uncertain significance	14	75002995	75002995	Human	1	name
11577991	CV264604	single nucleotide variant	NM_014239.4(EIF2B2):c.3G>T (p.Met1Ile)	Leukoencephalopathy with vanishing white matter 2 [RCV005008231]\|not provided [RCV000271978]	pathogenic\|likely pathogenic	14	75002993	75002993	Human	1	name
402511539	CV2858931	single nucleotide variant	NM_014239.4(EIF2B2):c.72G>C (p.Arg24=)	not provided [RCV003547065]	likely benign	14	75003062	75003062	Human		name
405216427	CV2911278	deletion	NM_014239.4(EIF2B2):c.694-21_694-19del	not provided [RCV003567787]	likely benign	14	75006556	75006558	Human		name
402516854	CV2936449	deletion	NM_014239.4(EIF2B2):c.434-24_434-18del	not provided [RCV003663014]	likely benign	14	75004713	75004719	Human		name
405219997	CV2969575	deletion	NM_014239.4(EIF2B2):c.832-21_832-18del	not provided [RCV003680536]	likely benign	14	75007701	75007704	Human		name
405000472	CV3005383	single nucleotide variant	NM_014239.4(EIF2B2):c.66G>T (p.Leu22=)	not provided [RCV003693124]	likely benign	14	75003056	75003056	Human		name
405061502	CV3030084	single nucleotide variant	NM_014239.4(EIF2B2):c.39G>A (p.Glu13=)	not provided [RCV003697719]	likely benign	14	75003029	75003029	Human		name
402480603	CV3041479	single nucleotide variant	NM_014239.4(EIF2B2):c.48G>A (p.Glu16=)	not provided [RCV003712803]	likely benign	14	75003038	75003038	Human		name
405117130	CV3134381	single nucleotide variant	NM_014239.4(EIF2B2):c.84G>C (p.Pro28=)	not provided [RCV003836983]	likely benign	14	75003074	75003074	Human		name
405201074	CV3147248	single nucleotide variant	NM_014239.4(EIF2B2):c.51C>T (p.Ser17=)	not provided [RCV003844408]	likely benign	14	75003041	75003041	Human		name
15180483	CV739329	single nucleotide variant	NM_014239.4(EIF2B2):c.64C>T (p.Leu22=)	not provided [RCV000907364]	benign	14	75003054	75003054	Human		name
28892807	CV872624	single nucleotide variant	NM_014239.4(EIF2B2):c.96G>A (p.Glu32=)	Vanishing white matter disease [RCV001121472]\|not provided [RCV002069973]	benign\|uncertain significance	14	75003086	75003086	Human	2	name
40887918	CV973034	single nucleotide variant	NM_014239.4(EIF2B2):c.3G>A (p.Met1Ile)	Vanishing white matter disease [RCV001265581]	likely pathogenic	14	75002993	75002993	Human	2	name
150555036	CV1310036	single nucleotide variant	NM_014239.4(EIF2B2):c.165G>A (p.Gly55=)	not provided [RCV002541034]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	75003276	75003276	Human		name
151852225	CV1348969	single nucleotide variant	NM_014239.4(EIF2B2):c.23G>C (p.Gly8Ala)	not provided [RCV001922949]	uncertain significance	14	75003013	75003013	Human		name
152168599	CV1626269	single nucleotide variant	NM_014239.4(EIF2B2):c.120G>A (p.Gly40=)	not provided [RCV002182501]	likely benign	14	75003110	75003110	Human		name
156377121	CV2024830	single nucleotide variant	NM_014239.4(EIF2B2):c.138C>T (p.Ile46=)	not provided [RCV002722014]	likely benign	14	75003128	75003128	Human		name
156157187	CV2033624	single nucleotide variant	NM_014239.4(EIF2B2):c.186C>T (p.Arg62=)	not provided [RCV002741418]	likely benign	14	75003297	75003297	Human		name
156311597	CV2120046	single nucleotide variant	NM_014239.4(EIF2B2):c.189A>G (p.Arg63=)	not provided [RCV002962652]	likely benign	14	75003300	75003300	Human		name
156076673	CV2141784	single nucleotide variant	NM_014239.4(EIF2B2):c.16G>C (p.Ala6Pro)	not provided [RCV002979114]	uncertain significance	14	75003006	75003006	Human		name
156220477	CV2222311	single nucleotide variant	NM_014239.4(EIF2B2):c.22G>A (p.Gly8Ser)	Inborn genetic diseases [RCV002767003]	uncertain significance	14	75003012	75003012	Human	1	name
405077267	CV2948628	single nucleotide variant	NM_014239.4(EIF2B2):c.201G>A (p.Arg67=)	not provided [RCV003664280]	likely benign	14	75003312	75003312	Human		name
405123002	CV2954231	single nucleotide variant	NM_014239.4(EIF2B2):c.129C>G (p.Arg43=)	not provided [RCV003667647]	likely benign	14	75003119	75003119	Human		name
405231043	CV2964546	single nucleotide variant	NM_014239.4(EIF2B2):c.228C>T (p.Thr76=)	not provided [RCV003682262]	likely benign	14	75003339	75003339	Human		name
405223507	CV2982707	single nucleotide variant	NM_014239.4(EIF2B2):c.267C>T (p.Ile89=)	not provided [RCV003681050]	likely benign	14	75003378	75003378	Human		name
402486396	CV2999030	single nucleotide variant	NM_014239.4(EIF2B2):c.195C>G (p.Gly65=)	not provided [RCV003687097]	likely benign	14	75003306	75003306	Human		name
404977745	CV3015231	single nucleotide variant	NM_014239.4(EIF2B2):c.234G>A (p.Val78=)	not provided [RCV003690601]	likely benign	14	75003345	75003345	Human		name
405200903	CV3143494	single nucleotide variant	NM_014239.4(EIF2B2):c.282C>A (p.Gly94=)	not provided [RCV003844480]	likely benign	14	75003393	75003393	Human		name
405245539	CV3161860	single nucleotide variant	NM_014239.4(EIF2B2):c.117A>G (p.Leu39=)	not provided [RCV003868573]	likely benign	14	75003107	75003107	Human		name
597962932	CV3753822	single nucleotide variant	NM_014239.4(EIF2B2):c.162G>C (p.Ala54=)	not provided [RCV005082126]	uncertain significance	14	75003152	75003152	Human		name
597866459	CV3802837	single nucleotide variant	NM_014239.4(EIF2B2):c.276G>A (p.Glu92=)	not provided [RCV005147624]	likely benign	14	75003387	75003387	Human		name
15101143	CV754160	single nucleotide variant	NM_014239.4(EIF2B2):c.213T>A (p.Ala71=)	not provided [RCV000914727]	likely benign	14	75003324	75003324	Human		name
15151421	CV754161	single nucleotide variant	NM_014239.4(EIF2B2):c.222C>T (p.Ser74=)	not provided [RCV000923672]	likely benign	14	75003333	75003333	Human		name
15099524	CV769915	single nucleotide variant	NM_014239.4(EIF2B2):c.183C>T (p.Ile61=)	not provided [RCV000936494]	likely benign	14	75003294	75003294	Human		name
40887923	CV973035	deletion	NM_014239.4(EIF2B2):c.42del (p.Ile15fs)	Vanishing white matter disease [RCV001265582]	pathogenic	14	75003031	75003031	Human	2	name
126726195	CV1017830	single nucleotide variant	NM_014239.4(EIF2B2):c.94G>T (p.Glu32Ter)	Vanishing white matter disease [RCV001331833]	pathogenic	14	75003084	75003084	Human	2	name
151720663	CV1496883	single nucleotide variant	NM_014239.4(EIF2B2):c.384A>G (p.Gln128=)	not provided [RCV001909672]	likely benign\|uncertain significance	14	75003650	75003650	Human		name
151792293	CV1515571	single nucleotide variant	NM_014239.4(EIF2B2):c.34T>C (p.Ser12Pro)	not provided [RCV002027340]	uncertain significance	14	75003024	75003024	Human		name
152141793	CV1538108	single nucleotide variant	NM_014239.4(EIF2B2):c.858T>C (p.His286=)	not provided [RCV002219472]	likely benign	14	75007748	75007748	Human		name
152086156	CV1608312	single nucleotide variant	NM_014239.4(EIF2B2):c.672C>T (p.Ala224=)	Vanishing white matter disease [RCV002486827]\|not provided [RCV002212068]	likely benign	14	75005940	75005940	Human	2	name
156333206	CV1905740	single nucleotide variant	NM_014239.4(EIF2B2):c.714C>T (p.Thr238=)	not provided [RCV003089919]	likely benign	14	75006597	75006597	Human		name
156416762	CV1969985	single nucleotide variant	NM_014239.4(EIF2B2):c.921C>T (p.Ser307=)	not provided [RCV002589862]	uncertain significance	14	75009053	75009053	Human		name
156247742	CV1988262	single nucleotide variant	NM_014239.4(EIF2B2):c.459C>T (p.Ala153=)	not provided [RCV002645795]	likely benign	14	75004762	75004762	Human		name
156390431	CV1998736	single nucleotide variant	NM_014239.4(EIF2B2):c.528C>T (p.Ala176=)	not provided [RCV002680709]	likely benign	14	75004831	75004831	Human		name
156169216	CV2019921	single nucleotide variant	NM_014239.4(EIF2B2):c.762G>C (p.Leu254=)	not provided [RCV002710433]	likely benign	14	75006645	75006645	Human		name
156209125	CV2042465	single nucleotide variant	NM_014239.4(EIF2B2):c.984T>C (p.Ile328=)	not provided [RCV002766529]	likely benign	14	75009116	75009116	Human		name
156227867	CV2146069	single nucleotide variant	NM_014239.4(EIF2B2):c.89G>T (p.Ser30Ile)	not provided [RCV003025530]	uncertain significance	14	75003079	75003079	Human		name
401768519	CV2716642	single nucleotide variant	NM_014239.4(EIF2B2):c.32T>C (p.Leu11Ser)	Inborn genetic diseases [RCV003283217]	uncertain significance	14	75003022	75003022	Human	1	name
402487058	CV2865330	single nucleotide variant	NM_014239.4(EIF2B2):c.747A>G (p.Thr249=)	not provided [RCV003544520]	likely benign	14	75006630	75006630	Human		name
405210650	CV2867794	single nucleotide variant	NM_014239.4(EIF2B2):c.624C>T (p.Ser208=)	not provided [RCV003552526]	likely benign	14	75005892	75005892	Human		name
405193029	CV2872242	single nucleotide variant	NM_014239.4(EIF2B2):c.948T>C (p.Val316=)	not provided [RCV003550584]	likely benign	14	75009080	75009080	Human		name
405022789	CV2877569	single nucleotide variant	NM_014239.4(EIF2B2):c.907C>T (p.Leu303=)	not provided [RCV003577747]	likely benign	14	75009039	75009039	Human		name
405205546	CV2916286	single nucleotide variant	NM_014239.4(EIF2B2):c.795C>A (p.Leu265=)	not provided [RCV003566453]	likely benign	14	75006678	75006678	Human		name
405069607	CV2933251	single nucleotide variant	NM_014239.4(EIF2B2):c.561C>T (p.Phe187=)	not provided [RCV003581035]	likely benign	14	75004864	75004864	Human		name
405068824	CV2936890	single nucleotide variant	NM_014239.4(EIF2B2):c.420G>T (p.Leu140=)	not provided [RCV003659294]	likely benign	14	75003686	75003686	Human		name
402520085	CV2943904	single nucleotide variant	NM_014239.4(EIF2B2):c.945C>T (p.Tyr315=)	not provided [RCV003663238]	likely benign	14	75009077	75009077	Human		name
402498702	CV2946684	single nucleotide variant	NM_014239.4(EIF2B2):c.354A>G (p.Leu118=)	not provided [RCV003661315]	likely benign	14	75003620	75003620	Human		name
405149312	CV2959577	single nucleotide variant	NM_014239.4(EIF2B2):c.450C>T (p.Asn150=)	not provided [RCV003673886]	likely benign	14	75004753	75004753	Human		name
405244673	CV2968345	single nucleotide variant	NM_014239.4(EIF2B2):c.430C>T (p.Leu144=)	not provided [RCV003684915]	likely benign	14	75003696	75003696	Human		name
405227715	CV2980522	single nucleotide variant	NM_014239.4(EIF2B2):c.567C>A (p.Val189=)	not provided [RCV003710991]	likely benign	14	75004870	75004870	Human		name
405223294	CV2982621	single nucleotide variant	NM_014239.4(EIF2B2):c.942C>T (p.Asp314=)	not provided [RCV003681020]	likely benign	14	75009074	75009074	Human		name
404984620	CV2983169	single nucleotide variant	NM_014239.4(EIF2B2):c.531C>T (p.Phe177=)	not provided [RCV003691680]	likely benign	14	75004834	75004834	Human		name
405009535	CV2990272	single nucleotide variant	NM_014239.4(EIF2B2):c.639G>A (p.Glu213=)	not provided [RCV003693863]	likely benign	14	75005907	75005907	Human		name
405021035	CV2992722	single nucleotide variant	NM_014239.4(EIF2B2):c.393C>A (p.Ser131=)	not provided [RCV003694831]	likely benign	14	75003659	75003659	Human		name
402516019	CV3003117	single nucleotide variant	NM_014239.4(EIF2B2):c.933T>C (p.Pro311=)	not provided [RCV003716073]	likely benign	14	75009065	75009065	Human		name
405035305	CV3006752	single nucleotide variant	NM_014239.4(EIF2B2):c.687C>T (p.Val229=)	not provided [RCV003695818]	likely benign	14	75005955	75005955	Human		name
405076428	CV3007965	single nucleotide variant	NM_014239.4(EIF2B2):c.603T>C (p.His201=)	not provided [RCV003716784]	likely benign	14	75005871	75005871	Human		name
402493904	CV3008515	single nucleotide variant	NM_014239.4(EIF2B2):c.729G>C (p.Gly243=)	not provided [RCV003687751]	likely benign	14	75006612	75006612	Human		name
405062568	CV3020549	single nucleotide variant	NM_014239.4(EIF2B2):c.930C>T (p.Cys310=)	not provided [RCV003697792]	likely benign	14	75009062	75009062	Human		name
405131780	CV3021876	single nucleotide variant	NM_014239.4(EIF2B2):c.615G>A (p.Val205=)	not provided [RCV003701761]	likely benign	14	75005883	75005883	Human		name
405049664	CV3028980	single nucleotide variant	NM_014239.4(EIF2B2):c.351C>G (p.Gly117=)	not provided [RCV003696805]	likely benign	14	75003617	75003617	Human		name
402507821	CV3036164	single nucleotide variant	NM_014239.4(EIF2B2):c.435A>G (p.Glu145=)	not provided [RCV003715377]	likely benign	14	75004738	75004738	Human		name
405205715	CV3041868	single nucleotide variant	NM_014239.4(EIF2B2):c.372C>T (p.Phe124=)	not provided [RCV003707977]	likely benign	14	75003638	75003638	Human		name
405240929	CV3060973	single nucleotide variant	NM_014239.4(EIF2B2):c.960C>T (p.Leu320=)	not provided [RCV003737241]	likely benign	14	75009092	75009092	Human		name
405157109	CV3064771	single nucleotide variant	NM_014239.4(EIF2B2):c.954A>C (p.Pro318=)	not provided [RCV003726707]	likely benign	14	75009086	75009086	Human		name
404985178	CV3121736	single nucleotide variant	NM_014239.4(EIF2B2):c.801C>T (p.Val267=)	not provided [RCV003826535]	likely benign	14	75006684	75006684	Human		name
405012031	CV3128155	single nucleotide variant	NM_014239.4(EIF2B2):c.798C>T (p.Ile266=)	not provided [RCV003829035]	likely benign	14	75006681	75006681	Human		name
405199108	CV3128790	single nucleotide variant	NM_014239.4(EIF2B2):c.555G>A (p.Arg185=)	not provided [RCV003821833]	likely benign	14	75004858	75004858	Human		name
405064196	CV3139696	single nucleotide variant	NM_014239.4(EIF2B2):c.324C>G (p.Ser108=)	not provided [RCV003833043]	likely benign	14	75003590	75003590	Human		name
405162916	CV3160032	single nucleotide variant	NM_014239.4(EIF2B2):c.423A>G (p.Leu141=)	not provided [RCV003857103]	likely benign	14	75003689	75003689	Human		name
405250900	CV3181154	single nucleotide variant	NM_014239.4(EIF2B2):c.786C>T (p.Ser262=)	not provided [RCV003870155]	likely benign	14	75006669	75006669	Human		name
402504710	CV3181491	single nucleotide variant	NM_014239.4(EIF2B2):c.690C>T (p.Asn230=)	not provided [RCV003878325]	likely benign	14	75005958	75005958	Human		name
402510100	CV3182231	single nucleotide variant	NM_014239.4(EIF2B2):c.405G>A (p.Glu135=)	not provided [RCV003878885]	likely benign	14	75003671	75003671	Human		name
11618047	CV330593	single nucleotide variant	NM_014239.4(EIF2B2):c.462G>A (p.Gln154=)	Vanishing white matter disease [RCV000310222]\|not provided [RCV002056421]	likely benign\|uncertain significance	14	75004765	75004765	Human	2	name
11617535	CV339142	single nucleotide variant	NM_014239.4(EIF2B2):c.708G>A (p.Thr236=)	Vanishing white matter disease [RCV000305622]\|not provided [RCV002056422]	likely benign\|uncertain significance	14	75006591	75006591	Human	2	name
597893897	CV3763550	single nucleotide variant	NM_014239.4(EIF2B2):c.636T>C (p.Ile212=)	not provided [RCV005111131]	likely benign	14	75005904	75005904	Human		name
597961571	CV3812181	single nucleotide variant	NM_014239.4(EIF2B2):c.390G>A (p.Gln130=)	not provided [RCV005163834]	likely benign	14	75003656	75003656	Human		name
597976163	CV3829173	single nucleotide variant	NM_014239.4(EIF2B2):c.744G>A (p.Val248=)	not provided [RCV005169622]	likely benign	14	75006627	75006627	Human		name
597910346	CV3830065	single nucleotide variant	NM_014239.4(EIF2B2):c.387C>G (p.Leu129=)	not provided [RCV005182634]	likely benign	14	75003653	75003653	Human		name
598123188	CV3885054	single nucleotide variant	NM_014239.4(EIF2B2):c.76G>A (p.Gly26Ser)	not specified [RCV005238663]	uncertain significance	14	75003066	75003066	Human		name
598178954	CV3961322	single nucleotide variant	NM_014239.4(EIF2B2):c.38A>G (p.Glu13Gly)	Inborn genetic diseases [RCV005332424]	uncertain significance	14	75003028	75003028	Human	1	name
15098898	CV725810	single nucleotide variant	NM_014239.4(EIF2B2):c.735G>A (p.Leu245=)	not provided [RCV000891839]	likely benign	14	75006618	75006618	Human		name
15176329	CV739330	single nucleotide variant	NM_014239.4(EIF2B2):c.325C>T (p.Leu109=)	not provided [RCV000906406]	likely benign	14	75003591	75003591	Human		name
15134779	CV754162	single nucleotide variant	NM_014239.4(EIF2B2):c.927T>C (p.His309=)	not provided [RCV000920744]	likely benign	14	75009059	75009059	Human		name
15181875	CV769914	single nucleotide variant	NM_014239.4(EIF2B2):c.76G>C (p.Gly26Arg)	not provided [RCV000930232]	benign	14	75003066	75003066	Human		name
15194307	CV769916	single nucleotide variant	NM_014239.4(EIF2B2):c.999T>A (p.Pro333=)	Vanishing white matter disease [RCV001118030]\|not provided [RCV000933606]	likely benign\|uncertain significance	14	75009131	75009131	Human	2	name
15138266	CV784788	single nucleotide variant	NM_014239.4(EIF2B2):c.342A>T (p.Thr114=)	not provided [RCV000982444]	likely benign	14	75003608	75003608	Human		name
151761838	CV1346579	single nucleotide variant	NM_014239.4(EIF2B2):c.127C>T (p.Arg43Cys)	Inborn genetic diseases [RCV003170235]\|not provided [RCV001970282]	uncertain significance	14	75003117	75003117	Human	1	name
151722197	CV1497952	single nucleotide variant	NM_014239.4(EIF2B2):c.151T>C (p.Trp51Arg)	not provided [RCV001983252]	uncertain significance	14	75003141	75003141	Human		name
152131514	CV1604488	single nucleotide variant	NM_014239.4(EIF2B2):c.1047T>C (p.His349=)	not provided [RCV002099551]	likely benign	14	75009179	75009179	Human		name
156448522	CV1950805	single nucleotide variant	NM_014239.4(EIF2B2):c.182T>C (p.Ile61Thr)	not provided [RCV003120084]	uncertain significance	14	75003293	75003293	Human		name
156351356	CV2018982	single nucleotide variant	NM_014239.4(EIF2B2):c.156C>A (p.Ser52Arg)	not provided [RCV002720206]	uncertain significance	14	75003146	75003146	Human		name
156017081	CV2044151	single nucleotide variant	NM_014239.4(EIF2B2):c.163G>A (p.Gly55Arg)	not provided [RCV002795400]	uncertain significance	14	75003153	75003153	Human		name
156159290	CV2136675	single nucleotide variant	NM_014239.4(EIF2B2):c.229A>C (p.Thr77Pro)	not provided [RCV003005001]	uncertain significance	14	75003340	75003340	Human		name
156180418	CV2167467	single nucleotide variant	NM_014239.4(EIF2B2):c.128G>A (p.Arg43His)	not provided [RCV003023808]	uncertain significance	14	75003118	75003118	Human		name
401937972	CV2797244	deletion	NM_014239.4(EIF2B2):c.607del (p.Met203fs)	EIF2B2-related disorder [RCV003417036]	pathogenic	14	75005873	75005873	Human		name , trait , alternate_id
405110463	CV2894822	duplication	NM_014239.4(EIF2B2):c.551dup (p.Arg185fs)	not provided [RCV003557827]	pathogenic	14	75004851	75004852	Human		name
405225890	CV2986462	deletion	NM_014239.4(EIF2B2):c.710del (p.Lys237fs)	not provided [RCV003681413]	pathogenic	14	75006592	75006592	Human		name
405239595	CV2993420	deletion	NM_014239.4(EIF2B2):c.365del (p.Phe122fs)	not provided [RCV003718905]	pathogenic	14	75003629	75003629	Human		name
405058108	CV3019590	single nucleotide variant	NM_014239.4(EIF2B2):c.1032C>T (p.Tyr344=)	not provided [RCV003697422]	likely benign	14	75009164	75009164	Human		name
405205457	CV3033716	single nucleotide variant	NM_014239.4(EIF2B2):c.1041T>C (p.Asp347=)	not provided [RCV003707945]	likely benign	14	75009173	75009173	Human		name
405718882	CV3238534	single nucleotide variant	NM_014239.4(EIF2B2):c.109G>A (p.Glu37Lys)	Inborn genetic diseases [RCV004377729]	uncertain significance	14	75003099	75003099	Human	1	name
405718889	CV3238535	single nucleotide variant	NM_014239.4(EIF2B2):c.131A>G (p.Gln44Arg)	Inborn genetic diseases [RCV004377730]	likely benign	14	75003121	75003121	Human	1	name
11650787	CV339140	single nucleotide variant	NM_014239.4(EIF2B2):c.271G>C (p.Glu91Gln)	Vanishing white matter disease [RCV000294887]	uncertain significance	14	75003382	75003382	Human	2	name
597666934	CV3674396	single nucleotide variant	NM_014239.4(EIF2B2):c.166G>A (p.Glu56Lys)	Inborn genetic diseases [RCV004979605]	uncertain significance	14	75003277	75003277	Human	1	name
597870684	CV3799845	single nucleotide variant	NM_014239.4(EIF2B2):c.223G>A (p.Glu75Lys)	not provided [RCV005148259]	uncertain significance	14	75003334	75003334	Human		name
598123769	CV3884706	duplication	NM_014239.4(EIF2B2):c.877dup (p.Glu293fs)	Vanishing white matter disease [RCV005238312]	pathogenic	14	75007766	75007767	Human	2	name
598178959	CV3961323	single nucleotide variant	NM_014239.4(EIF2B2):c.153G>C (p.Trp51Cys)	Inborn genetic diseases [RCV005332425]	uncertain significance	14	75003143	75003143	Human	1	name
8570742	CV48677	single nucleotide variant	NM_014239.4(EIF2B2):c.254T>A (p.Val85Glu)	Abnormality of the nervous system [RCV001814020]\|Leukoencephalopathy with vanishing white matter 2 [RCV003221421]\|Vanishing white matter disease [RCV003230375]\|not provided [RCV001852667]	pathogenic\|likely pathogenic	14	75003365	75003365	Human	5	name
14693530	CV620489	deletion	NM_014239.4(EIF2B2):c.570del (p.Ile190fs)	Leukoencephalopathy with vanishing white matter 2 [RCV005012302]\|Vanishing white matter disease [RCV000779144]\|not provided [RCV003727823]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	14	75004872	75004872	Human	3	name
14693531	CV620490	deletion	NM_014239.4(EIF2B2):c.890del (p.Phe297fs)	not provided [RCV001873180]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	14	75007779	75007779	Human		name
15176403	CV739332	single nucleotide variant	NM_014239.4(EIF2B2):c.1008C>T (p.Ile336=)	not provided [RCV000906422]	likely benign	14	75009140	75009140	Human		name
28877454	CV872625	single nucleotide variant	NM_014239.4(EIF2B2):c.119G>C (p.Gly40Ala)	Vanishing white matter disease [RCV001116577]\|not provided [RCV002069879]	likely benign\|uncertain significance	14	75003109	75003109	Human	2	name
28877458	CV872626	single nucleotide variant	NM_014239.4(EIF2B2):c.159C>G (p.Asn53Lys)	Vanishing white matter disease [RCV001116578]	uncertain significance	14	75003149	75003149	Human	2	name
28877462	CV872627	single nucleotide variant	NM_014239.4(EIF2B2):c.229A>G (p.Thr77Ala)	Vanishing white matter disease [RCV001116579]\|not provided [RCV002556466]	uncertain significance	14	75003340	75003340	Human	2	name
126768111	CV1031704	single nucleotide variant	NM_014239.4(EIF2B2):c.367A>G (p.Ser123Gly)	Inborn genetic diseases [RCV002546982]\|not provided [RCV001343152]	uncertain significance	14	75003633	75003633	Human	1	name
150553033	CV1298045	single nucleotide variant	NM_014239.4(EIF2B2):c.922G>T (p.Val308Leu)	not provided [RCV001768658]	uncertain significance	14	75009054	75009054	Human		name
151779015	CV1342908	single nucleotide variant	NM_014239.4(EIF2B2):c.569T>C (p.Ile190Thr)	not provided [RCV001988960]	uncertain significance	14	75004872	75004872	Human		name
151736634	CV1351504	single nucleotide variant	NM_014239.4(EIF2B2):c.484A>G (p.Asn162Asp)	not provided [RCV002021885]	uncertain significance	14	75004787	75004787	Human		name
151872941	CV1359410	single nucleotide variant	NM_014239.4(EIF2B2):c.298A>T (p.Ser100Cys)	not provided [RCV002019183]	uncertain significance	14	75003564	75003564	Human		name
151782991	CV1369929	single nucleotide variant	NM_014239.4(EIF2B2):c.818A>T (p.Lys273Ile)	not provided [RCV001930616]	uncertain significance	14	75006701	75006701	Human		name
151781707	CV1446736	single nucleotide variant	NM_014239.4(EIF2B2):c.937T>G (p.Phe313Val)	not provided [RCV002046228]	uncertain significance	14	75009069	75009069	Human		name
151828920	CV1462250	single nucleotide variant	NM_014239.4(EIF2B2):c.485A>G (p.Asn162Ser)	not provided [RCV001993513]	uncertain significance	14	75004788	75004788	Human		name
151778634	CV1463358	single nucleotide variant	NM_014239.4(EIF2B2):c.950C>T (p.Pro317Leu)	not provided [RCV001875147]	uncertain significance	14	75009082	75009082	Human		name
151740461	CV1492444	single nucleotide variant	NM_014239.4(EIF2B2):c.659C>G (p.Ala220Gly)	not provided [RCV002042180]	uncertain significance	14	75005927	75005927	Human		name
151854444	CV1511223	single nucleotide variant	NM_014239.4(EIF2B2):c.310G>A (p.Asp104Asn)	not provided [RCV001979354]	uncertain significance	14	75003576	75003576	Human		name
153349948	CV1693628	single nucleotide variant	NM_014239.4(EIF2B2):c.664A>G (p.Ile222Val)	Inborn genetic diseases [RCV003096204]\|not provided [RCV002276384]	uncertain significance	14	75005932	75005932	Human	1	name
153349949	CV1693629	single nucleotide variant	NM_014239.4(EIF2B2):c.816C>G (p.Phe272Leu)	not provided [RCV002276385]	uncertain significance	14	75006699	75006699	Human		name
155686826	CV1777682	single nucleotide variant	NM_014239.4(EIF2B2):c.967C>T (p.Leu323Phe)	not provided [RCV002299058]	uncertain significance	14	75009099	75009099	Human		name
155796365	CV1861810	single nucleotide variant	NM_014239.4(EIF2B2):c.829C>T (p.Gln277Ter)	Vanishing white matter disease [RCV002470092]	likely pathogenic	14	75006712	75006712	Human	2	name
156314278	CV1874725	single nucleotide variant	NM_014239.4(EIF2B2):c.682A>G (p.Arg228Gly)	not provided [RCV003062645]\|not specified [RCV004690350]	uncertain significance	14	75005950	75005950	Human		name
156316182	CV1901241	single nucleotide variant	NM_014239.4(EIF2B2):c.452T>C (p.Ile151Thr)	Inborn genetic diseases [RCV004073423]\|not provided [RCV002578965]	uncertain significance	14	75004755	75004755	Human	1	name
156027217	CV1918914	single nucleotide variant	NM_014239.4(EIF2B2):c.835C>T (p.Pro279Ser)	Inborn genetic diseases [RCV003161989]\|not provided [RCV002637001]	uncertain significance	14	75007725	75007725	Human	1	name
8558030	CV19375	single nucleotide variant	NM_014239.4(EIF2B2):c.638A>G (p.Glu213Gly)	EIF2B2-related disorder [RCV003904806]\|Leukoencephalopathy with vanishing white matter 1 [RCV004766978]\|Leukoencephalopathy with vanishing white matter 2 [RCV003221399]\|See cases [RCV002251875]\|Vanishing white matter disease [RCV000004583]\|not provided [RCV00184 ... (more) 7578]	pathogenic\|likely pathogenic	14	75005906	75005906	Human	5	name , trait , alternate_id
8558031	CV19376	single nucleotide variant	NM_014239.4(EIF2B2):c.947T>A (p.Val316Asp)	Leukoencephalopathy with vanishing white matter 2 [RCV003221400]\|Vanishing white matter disease [RCV000004585]\|not provided [RCV000995207]	pathogenic\|likely pathogenic	14	75009079	75009079	Human	3	name
8558032	CV19377	single nucleotide variant	NM_014239.4(EIF2B2):c.547C>T (p.Arg183Ter)	Leukoencephalopathy with vanishing white matter 2 [RCV003221401]\|not provided [RCV003555915]	pathogenic\|likely pathogenic	14	75004850	75004850	Human	1	name
8558033	CV19378	single nucleotide variant	NM_014239.4(EIF2B2):c.512C>T (p.Ser171Phe)	Leukoencephalopathy with vanishing white matter 2 [RCV003221402]\|Vanishing white matter disease [RCV004700188]	pathogenic\|likely pathogenic	14	75004815	75004815	Human	3	name
156295314	CV1958720	single nucleotide variant	NM_014239.4(EIF2B2):c.823T>G (p.Ser275Ala)	not provided [RCV002577987]	uncertain significance	14	75006706	75006706	Human		name
156398594	CV1965932	single nucleotide variant	NM_014239.4(EIF2B2):c.742G>A (p.Val248Met)	Inborn genetic diseases [RCV004973471]\|not provided [RCV002584628]	uncertain significance	14	75006625	75006625	Human	1	name
156412666	CV1968765	single nucleotide variant	NM_014239.4(EIF2B2):c.808C>T (p.Pro270Ser)	not provided [RCV002608606]	uncertain significance	14	75006691	75006691	Human		name
156414764	CV1982985	single nucleotide variant	NM_014239.4(EIF2B2):c.865G>A (p.Val289Met)	not provided [RCV002609354]	uncertain significance	14	75007755	75007755	Human		name
156082409	CV2012053	single nucleotide variant	NM_014239.4(EIF2B2):c.691A>C (p.Lys231Gln)	not provided [RCV002706031]	uncertain significance	14	75005959	75005959	Human		name
156054156	CV2027511	single nucleotide variant	NM_014239.4(EIF2B2):c.380C>G (p.Ala127Gly)	not provided [RCV002736608]	uncertain significance	14	75003646	75003646	Human		name
10401404	CV205176	single nucleotide variant	NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val)	EIF2B2-related disorder [RCV003422090]\|Inborn genetic diseases [RCV002517906]\|Leukoencephalopathy with vanishing white matter 2 [RCV003491935]\|See cases [RCV002252039]\|Vanishing white matter disease [RCV000190580]\|not provided [RCV000255470]	pathogenic\|likely pathogenic	14	75005867	75005867	Human	4	name , trait , alternate_id
156166818	CV2075315	single nucleotide variant	NM_014239.4(EIF2B2):c.805G>A (p.Ala269Thr)	not provided [RCV002851409]	uncertain significance	14	75006688	75006688	Human		name
155982830	CV2098269	single nucleotide variant	NM_014239.4(EIF2B2):c.863T>C (p.Phe288Ser)	not provided [RCV002907787]	uncertain significance	14	75007753	75007753	Human		name
156310689	CV2119979	single nucleotide variant	NM_014239.4(EIF2B2):c.799G>A (p.Val267Ile)	not provided [RCV002962601]	uncertain significance	14	75006682	75006682	Human		name
156251564	CV2130174	single nucleotide variant	NM_014239.4(EIF2B2):c.541G>T (p.Ala181Ser)	not provided [RCV002959227]	uncertain significance	14	75004844	75004844	Human		name
155948099	CV2136623	single nucleotide variant	NM_014239.4(EIF2B2):c.857A>G (p.His286Arg)	Inborn genetic diseases [RCV002994464]\|not provided [RCV003009315]	uncertain significance	14	75007747	75007747	Human	1	name
156079836	CV2138128	single nucleotide variant	NM_014239.4(EIF2B2):c.707C>T (p.Thr236Met)	not provided [RCV002979221]	uncertain significance	14	75006590	75006590	Human		name
156111983	CV2154210	single nucleotide variant	NM_014239.4(EIF2B2):c.711G>C (p.Lys237Asn)	not provided [RCV003021452]	uncertain significance	14	75006594	75006594	Human		name
156346835	CV2172703	single nucleotide variant	NM_014239.4(EIF2B2):c.869C>T (p.Ala290Val)	not provided [RCV003030606]	uncertain significance	14	75007759	75007759	Human		name
329372873	CV2451700	single nucleotide variant	NM_014239.4(EIF2B2):c.803G>T (p.Cys268Phe)	Inborn genetic diseases [RCV003210254]	uncertain significance	14	75006686	75006686	Human	1	name
401767654	CV2727233	single nucleotide variant	NM_014239.4(EIF2B2):c.562C>T (p.His188Tyr)	Inborn genetic diseases [RCV003282934]	uncertain significance	14	75004865	75004865	Human	1	name
401879497	CV2785171	single nucleotide variant	NM_014239.4(EIF2B2):c.593G>A (p.Cys198Tyr)	Inborn genetic diseases [RCV003384681]	uncertain significance	14	75004896	75004896	Human	1	name
402499395	CV2852484	single nucleotide variant	NM_014239.4(EIF2B2):c.871C>T (p.Pro291Ser)	Vanishing white matter disease [RCV003486507]\|not provided [RCV003554000]	pathogenic	14	75007761	75007761	Human	2	name
402481434	CV2911065	duplication	NM_014239.4(EIF2B2):c.939dup (p.Asp314Ter)	not provided [RCV003572077]	pathogenic	14	75009068	75009069	Human		name
11609188	CV321352	single nucleotide variant	NM_014239.4(EIF2B2):c.570T>G (p.Ile190Met)	Inborn genetic diseases [RCV002520922]\|Vanishing white matter disease [RCV000364921]	uncertain significance	14	75004873	75004873	Human	3	name
405718896	CV3238536	single nucleotide variant	NM_014239.4(EIF2B2):c.312T>A (p.Asp104Glu)	Inborn genetic diseases [RCV004377731]	uncertain significance	14	75003578	75003578	Human	1	name
407426681	CV3411481	single nucleotide variant	NM_014239.4(EIF2B2):c.586C>T (p.Pro196Ser)	not provided [RCV004590659]	likely pathogenic	14	75004889	75004889	Human		name
408382862	CV3525669	single nucleotide variant	NM_014239.4(EIF2B2):c.496A>G (p.Met166Val)	not specified [RCV004766579]	uncertain significance	14	75004799	75004799	Human		name
597666905	CV3674390	single nucleotide variant	NM_014239.4(EIF2B2):c.815T>C (p.Phe272Ser)	Inborn genetic diseases [RCV004979599]	uncertain significance	14	75006698	75006698	Human	1	name
597666910	CV3674391	single nucleotide variant	NM_014239.4(EIF2B2):c.544G>A (p.Ala182Thr)	Inborn genetic diseases [RCV004979600]	uncertain significance	14	75004847	75004847	Human	1	name
597666915	CV3674392	single nucleotide variant	NM_014239.4(EIF2B2):c.704G>C (p.Gly235Ala)	Inborn genetic diseases [RCV004979601]	uncertain significance	14	75006587	75006587	Human	1	name
597666925	CV3674394	single nucleotide variant	NM_014239.4(EIF2B2):c.496A>C (p.Met166Leu)	Inborn genetic diseases [RCV004979603]	uncertain significance	14	75004799	75004799	Human	1	name
597940682	CV3789048	single nucleotide variant	NM_014239.4(EIF2B2):c.598G>T (p.Gly200Cys)	not provided [RCV005133511]	uncertain significance	14	75005866	75005866	Human		name
598228210	CV3892429	single nucleotide variant	NM_014239.4(EIF2B2):c.973A>G (p.Ile325Val)	Leukoencephalopathy with vanishing white matter 2 [RCV005254264]	uncertain significance	14	75009105	75009105	Human	1	name
598178963	CV3961324	single nucleotide variant	NM_014239.4(EIF2B2):c.382C>A (p.Gln128Lys)	Inborn genetic diseases [RCV005332426]	uncertain significance	14	75003648	75003648	Human	1	name
598208898	CV4007792	single nucleotide variant	NM_014239.4(EIF2B2):c.677T>G (p.Met226Arg)	Leukoencephalopathy with vanishing white matter 2 [RCV005400106]	uncertain significance	14	75005945	75005945	Human	1	name
616934021	CV4011997	single nucleotide variant	NM_014239.4(EIF2B2):c.819A>C (p.Lys273Asn)	not specified [RCV005408547]	uncertain significance	14	75006702	75006702	Human		name
617152027	CV4018247	single nucleotide variant	NM_014239.4(EIF2B2):c.598G>A (p.Gly200Ser)	not specified [RCV005418507]	uncertain significance	14	75005866	75005866	Human		name
12912701	CV421993	single nucleotide variant	NM_014239.4(EIF2B2):c.581G>A (p.Cys194Tyr)	not provided [RCV000492914]	likely pathogenic	14	75004884	75004884	Human		name
13462668	CV438614	single nucleotide variant	NM_014239.4(EIF2B2):c.380C>T (p.Ala127Val)	EIF2B2-related disorder [RCV004755945]\|Vanishing white matter disease [RCV001116580]\|not provided [RCV000514586]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	75003646	75003646	Human	2	name , trait , alternate_id
13519081	CV486109	single nucleotide variant	NM_014239.4(EIF2B2):c.826C>T (p.Pro276Ser)	Inborn genetic diseases [RCV002530835]\|not provided [RCV000585351]	uncertain significance	14	75006709	75006709	Human	1	name
13613020	CV486604	single nucleotide variant	NM_014239.4(EIF2B2):c.514C>T (p.Arg172Ter)	Premature ovarian insufficiency [RCV000656226]\|not provided [RCV003727762]	pathogenic\|uncertain significance	14	75004817	75004817	Human	2	name
13613021	CV486605	single nucleotide variant	NM_014239.4(EIF2B2):c.818A>G (p.Lys273Arg)	Leukoencephalopathy with vanishing white matter 2 [RCV005010559]\|Osteogenesis imperfecta [RCV004543299]\|Premature ovarian insufficiency [RCV000656227]\|Vanishing white matter disease [RCV004526710]\|not provided [RCV002508235]	pathogenic\|likely pathogenic	14	75006701	75006701	Human	7	name
13527838	CV513345	single nucleotide variant	NM_014239.4(EIF2B2):c.922G>A (p.Val308Met)	Abnormality of the nervous system [RCV001814200]\|EIF2B2-related disorder [RCV004755992]\|Leukoencephalopathy with vanishing white matter 2 [RCV005010597]\|Vanishing white matter disease [RCV000625780]\|not provided [RCV001578122]	pathogenic\|likely pathogenic	14	75009054	75009054	Human	5	name , trait , alternate_id
15116179	CV739331	single nucleotide variant	NM_014239.4(EIF2B2):c.982A>G (p.Ile328Val)	Vanishing white matter disease [RCV001118029]\|not provided [RCV000895155]	benign	14	75009114	75009114	Human	2	name
21068970	CV788883	single nucleotide variant	NM_014239.4(EIF2B2):c.591C>G (p.Phe197Leu)	Vanishing white matter disease [RCV000985192]	likely pathogenic	14	75004894	75004894	Human	2	name
21074776	CV798681	single nucleotide variant	NM_014239.4(EIF2B2):c.946G>T (p.Val316Phe)	Vanishing white matter disease [RCV000995538]	likely pathogenic	14	75009078	75009078	Human	2	name
28882098	CV872628	single nucleotide variant	NM_014239.4(EIF2B2):c.498G>A (p.Met166Ile)	Vanishing white matter disease [RCV001118027]	uncertain significance	14	75004801	75004801	Human	2	name
28882103	CV872629	single nucleotide variant	NM_014239.4(EIF2B2):c.946G>A (p.Val316Ile)	Vanishing white matter disease [RCV001118028]	uncertain significance	14	75009078	75009078	Human	2	name
39457146	CV965853	single nucleotide variant	NM_014239.4(EIF2B2):c.910G>T (p.Glu304Ter)	Vanishing white matter disease [RCV001255548]\|not provided [RCV003558765]	pathogenic\|likely pathogenic	14	75009042	75009042	Human	2	name
156446495	CV1937976	single nucleotide variant	NM_014239.4(EIF2B2):c.1031A>G (p.Tyr344Cys)	not provided [RCV003118002]	uncertain significance	14	75009163	75009163	Human		name
405291506	CV3205787	single nucleotide variant	NM_014239.4(EIF2B2):c.1052T>C (p.Leu351Ser)	EIF2B2-related disorder [RCV003963919]	uncertain significance	14	75009184	75009184	Human		name , trait , alternate_id
597666919	CV3674393	single nucleotide variant	NM_014239.4(EIF2B2):c.1035T>A (p.His345Gln)	Inborn genetic diseases [RCV004979602]	uncertain significance	14	75009167	75009167	Human	1	name
597666929	CV3674395	single nucleotide variant	NM_014239.4(EIF2B2):c.1043A>G (p.Asp348Gly)	Inborn genetic diseases [RCV004979604]	uncertain significance	14	75009175	75009175	Human	1	name
405238188	CV2986659	deletion	NM_014239.4(EIF2B2):c.488_507del (p.Glu163fs)	not provided [RCV003683469]	pathogenic	14	75004791	75004810	Human		name
405202078	CV3038473	deletion	NM_014239.4(EIF2B2):c.932_933del (p.Pro311fs)	not provided [RCV003707542]	pathogenic	14	75009064	75009065	Human		name
151842657	CV1408648	duplication	NM_014239.4(EIF2B2):c.583_585dup (p.Ala195dup)	not provided [RCV002015526]	uncertain significance	14	75004884	75004885	Human		name
243063757	CV2405163	deletion	NM_014239.4(EIF2B2):c.913_915del (p.Lys305del)	Vanishing white matter disease [RCV003142295]	likely pathogenic	14	75009043	75009045	Human		name
597689930	CV3710971	insertion	NM_014239.4(EIF2B2):c.544_545insA (p.Ala182fs)	Leukoencephalopathy with vanishing white matter 2 [RCV005007295]	likely pathogenic	14	75004847	75004848	Human	1	name
11654247	CV339146	deletion	NM_014239.4(EIF2B2):c.1045_1047del (p.His349del)	Vanishing white matter disease [RCV000316104]	uncertain significance	14	75009175	75009177	Human	2	name
8558034	CV19379	indel	NM_014239.4(EIF2B2):c.607_612delinsTG (p.Met203fs)	Leukoencephalopathy with vanishing white matter 2 [RCV003221403]\|Vanishing white matter disease [RCV000779145]\|not provided [RCV000627430]	pathogenic	14	75005875	75005880	Human		name
405240769	CV2974022	microsatellite	NM_014239.4(EIF2B2):c.936_937del (p.Val312_Phe313insTer)	not provided [RCV003684019]	pathogenic	14	75009065	75009066	Human		name

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