3259[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 154514	GRCh38/hg38 1p34.1(chr1:43896056-44867736)x3	ARMH1, ARTN +88 more	Copy number gain	See cases	GUncertain significance
Select item 57429	GRCh38/hg38 1p34.1(chr1:44713837-45282899)x3	ARMH1, BEST4 +39 more	Copy number gain	See cases	GUncertain significance
Select item 154768	GRCh38/hg38 1p34.1(chr1:44817130-45230407)x3	EIF2B3, HECTD3 +12 more	Copy number gain	See cases	GUncertain significance
Select item 875157	NM_020365.5(EIF2B3):c.*401T>C	EIF2B3	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GLikely benign
Select item 876121	NM_020365.5(EIF2B3):c.*282G>A	EIF2B3	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 876122	NM_020365.5(EIF2B3):c.*266C>T	EIF2B3	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 297439	NM_020365.5(EIF2B3):c.*201C>G	EIF2B3	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 876123	NM_020365.5(EIF2B3):c.*55C>T	EIF2B3	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 2790102	NM_020365.5(EIF2B3):c.1353G>A (p.Glu451=)	EIF2B3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1447135	NM_020365.5(EIF2B3):c.1345C>T (p.Leu449Phe)	EIF2B3 (L449F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2819159	NM_020365.5(EIF2B3):c.1332G>T (p.Val444=)	EIF2B3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2849367	NM_020365.5(EIF2B3):c.1329C>T (p.Ile443=)	EIF2B3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2818453	NM_020365.5(EIF2B3):c.1320T>C (p.Asn440=)	EIF2B3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 297440	NM_020365.5(EIF2B3):c.1319A>G (p.Asn440Ser)	EIF2B3 (N440S)	Single nucleotide variant (3 prime UTR variant +1 more)	Vanishing white matter disease	GUncertain significance
Select item 2791835	NM_020365.5(EIF2B3):c.1307-16del	EIF2B3	Deletion (intron variant)	not provided	GBenign
Select item 2786866	NM_020365.5(EIF2B3):c.1307-18T>C	EIF2B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001791	NM_020365.5(EIF2B3):c.1306+18C>A	EIF2B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998015	NM_020365.5(EIF2B3):c.1306+16del	EIF2B3	Deletion (intron variant)	not provided	GLikely benign
Select item 2751252	NM_020365.5(EIF2B3):c.1306+16A>G	EIF2B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814427	NM_020365.5(EIF2B3):c.1306+12T>G	EIF2B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2742955	NM_020365.5(EIF2B3):c.1306+9G>C	EIF2B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2048362	NM_020365.5(EIF2B3):c.1289A>G (p.Gln430Arg)	EIF2B3 (Q430R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 297441	NM_020365.5(EIF2B3):c.1287C>T (p.Gly429=)	EIF2B3	Single nucleotide variant (intron variant +1 more)	Vanishing white matter disease	GUncertain significance
Select item 2989034	NM_020365.5(EIF2B3):c.1281A>G (p.Gly427=)	EIF2B3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 870560	NM_020365.5(EIF2B3):c.1277T>C (p.Ile426Thr)	EIF2B3 (I426T)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy with vanishing white matter 1 +2 more	GUncertain significance
Select item 876124	NM_020365.5(EIF2B3):c.1274T>G (p.Leu425Trp)	EIF2B3 (L425W)	Single nucleotide variant (missense variant +1 more)	Vanishing white matter disease	GUncertain significance
Select item 2743590	NM_020365.5(EIF2B3):c.1260C>T (p.Asp420=)	EIF2B3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1375184	NM_020365.5(EIF2B3):c.1253G>T (p.Gly418Val)	EIF2B3 (G418V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1936175	NM_020365.5(EIF2B3):c.1252G>T (p.Gly418Cys)	EIF2B3 (G418C)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2748914	NM_020365.5(EIF2B3):c.1251G>A (p.Lys417=)	EIF2B3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2175052	NM_020365.5(EIF2B3):c.1246G>C (p.Glu416Gln)	EIF2B3 (E416Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2788982	NM_020365.5(EIF2B3):c.1245C>T (p.Ile415=)	EIF2B3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3004655	NM_020365.5(EIF2B3):c.1230C>T (p.Cys410=)	EIF2B3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2731874	NM_020365.5(EIF2B3):c.1224C>A (p.Val408=)	EIF2B3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1912866	NM_020365.5(EIF2B3):c.1224C>T (p.Val408=)	EIF2B3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2987278	NM_020365.5(EIF2B3):c.1209T>C (p.Asn403=)	EIF2B3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 876125	NM_020365.5(EIF2B3):c.1208A>G (p.Asn403Ser)	EIF2B3 (N403S)	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GUncertain significance
Select item 1412204	NM_020365.5(EIF2B3):c.1203-9G>A	EIF2B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969944	NM_020365.5(EIF2B3):c.1203-15G>A	EIF2B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1445937	NM_020365.5(EIF2B3):c.1203-19C>G	EIF2B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 261220	NM_020365.5(EIF2B3):c.1203-39G>A	EIF2B3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1288223	NM_020365.5(EIF2B3):c.1202+68G>A	EIF2B3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1654918	NM_020365.5(EIF2B3):c.1202+18C>T	EIF2B3 (T407I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2809445	NM_020365.5(EIF2B3):c.1202+14del	EIF2B3 (C406fs)	Deletion (frameshift variant +1 more)	not provided	GLikely benign
Select item 2976462	NM_020365.5(EIF2B3):c.1202+13C>T	EIF2B3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2867484	NM_020365.5(EIF2B3):c.1202+12C>T	EIF2B3 (P405L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2709323	NM_020365.5(EIF2B3):c.1202+11C>T	EIF2B3 (P405S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 95945	NM_020365.5(EIF2B3):c.1202+8T>G	EIF2B3 (S404A)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 2227712	NM_020365.5(EIF2B3):c.1202G>T (p.Gly401Val)	EIF2B3 (G401V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 297442	NM_020365.5(EIF2B3):c.1201G>A (p.Gly401Arg)	EIF2B3 (G401R +1 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 4438	NM_020365.5(EIF2B3):c.1193_1194del (p.Val398fs)	EIF2B3 (V398fs)	Microsatellite (frameshift variant)	Leukoencephalopathy with vanishing white matter 3	GPathogenic
Select item 2863876	NM_020365.5(EIF2B3):c.1164C>T (p.Thr388=)	EIF2B3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2081925	NM_020365.5(EIF2B3):c.1160T>C (p.Ile387Thr)	EIF2B3 (I387T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 877070	NM_020365.5(EIF2B3):c.1141A>G (p.Ile381Val)	EIF2B3 (I381V)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 877071	NM_020365.5(EIF2B3):c.1130C>T (p.Ser377Leu)	EIF2B3 (S377L)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GConflicting classifications of pathogenicity
Select item 3004323	NM_020365.5(EIF2B3):c.1116C>T (p.Arg372=)	EIF2B3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2288677	NM_020365.5(EIF2B3):c.1114C>T (p.Arg372Cys)	EIF2B3 (R372C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2735017	NM_020365.5(EIF2B3):c.1107C>T (p.Ser369=)	EIF2B3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870065	NM_020365.5(EIF2B3):c.1104A>G (p.Ser368=)	EIF2B3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893908	NM_020365.5(EIF2B3):c.1098G>A (p.Glu366=)	EIF2B3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1565580	NM_020365.5(EIF2B3):c.1074T>A (p.Ile358=)	EIF2B3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2280159	NM_020365.5(EIF2B3):c.1069C>A (p.Leu357Ile)	EIF2B3 (L357I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1932376	NM_020365.5(EIF2B3):c.1054-3C>T	EIF2B3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2860068	NM_020365.5(EIF2B3):c.1054-4A>T	EIF2B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2810603	NM_020365.5(EIF2B3):c.1054-5del	EIF2B3	Deletion (intron variant)	not provided	GBenign
Select item 2751012	NM_020365.5(EIF2B3):c.1054-5T>C	EIF2B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232545	NM_020365.5(EIF2B3):c.1054-205A>G	EIF2B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2983088	NM_020365.5(EIF2B3):c.1053+19A>G	EIF2B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1933309	NM_020365.5(EIF2B3):c.1053+19A>T	EIF2B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2828195	NM_020365.5(EIF2B3):c.1053+16G>T	EIF2B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168825	NM_020365.5(EIF2B3):c.1053+11G>A	EIF2B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2088717	NM_020365.5(EIF2B3):c.1051C>G (p.Leu351Val)	EIF2B3 (L351V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2705112	NM_020365.5(EIF2B3):c.1044C>T (p.Ser348=)	EIF2B3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1913645	NM_020365.5(EIF2B3):c.1038T>G (p.Ile346Met)	EIF2B3 (I346M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4440	NM_020365.5(EIF2B3):c.1037T>C (p.Ile346Thr)	EIF2B3 (I346T)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 3	GPathogenic
Select item 2820522	NM_020365.5(EIF2B3):c.1032C>T (p.Ala344=)	EIF2B3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1628680	NM_020365.5(EIF2B3):c.1026G>A (p.Ser342=)	EIF2B3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747579	NM_020365.5(EIF2B3):c.1025C>T (p.Ser342Leu)	EIF2B3 (S342L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2716948	NM_020365.5(EIF2B3):c.1020C>T (p.Val340=)	EIF2B3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2737047	NM_020365.5(EIF2B3):c.996T>C (p.Ala332=)	EIF2B3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716801	NM_020365.5(EIF2B3):c.983A>G (p.Lys328Arg)	EIF2B3 (K328R)	Single nucleotide variant (missense variant)	Vanishing white matter disease +2 more	GConflicting classifications of pathogenicity
Select item 1696368	NM_020365.5(EIF2B3):c.979C>T (p.Pro327Ser)	EIF2B3 (P327S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1556624	NM_020365.5(EIF2B3):c.976-9G>A	EIF2B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791462	NM_020365.5(EIF2B3):c.976-13C>T	EIF2B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983438	NM_020365.5(EIF2B3):c.976-18C>G	EIF2B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 261223	NM_020365.5(EIF2B3):c.975+44A>T	EIF2B3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2739121	NM_020365.5(EIF2B3):c.975+20A>G	EIF2B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860591	NM_020365.5(EIF2B3):c.975+9A>C	EIF2B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 261224	NM_020365.5(EIF2B3):c.975+9A>G	EIF2B3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 806131	NM_020365.5(EIF2B3):c.975+7G>A	EIF2B3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1980633	NM_020365.5(EIF2B3):c.969C>T (p.Asn323=)	EIF2B3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2016625	NM_020365.5(EIF2B3):c.962A>T (p.Glu321Val)	EIF2B3 (E321V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956765	NM_020365.5(EIF2B3):c.942C>T (p.Ser314=)	EIF2B3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2827492	NM_020365.5(EIF2B3):c.939G>T (p.Val313=)	EIF2B3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1321436	NM_020365.5(EIF2B3):c.935G>A (p.Arg312Gln)	EIF2B3 (R312Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2908330	NM_020365.5(EIF2B3):c.933T>C (p.Ser311=)	EIF2B3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1359614	NM_020365.5(EIF2B3):c.929G>A (p.Cys310Tyr)	EIF2B3 (C310Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 733941	NM_020365.5(EIF2B3):c.921G>A (p.Glu307=)	EIF2B3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857429	NM_020365.5(EIF2B3):c.906C>A (p.Val302=)	EIF2B3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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