EIF2B2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1287211	NC_000014.9:g.75002852A>G	EIF2B2	Single nucleotide variant	not provided	GBenign
Select item 314328	NM_014239.4(EIF2B2):c.-60A>G	EIF2B2	Single nucleotide variant (5 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 314329	NM_014239.4(EIF2B2):c.-56T>C	EIF2B2	Single nucleotide variant (5 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 888258	NM_014239.4(EIF2B2):c.-30C>G	EIF2B2	Single nucleotide variant (5 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 1805642	NM_014239.4(EIF2B2):c.1A>G (p.Met1Val)	EIF2B2 (M1V)	Single nucleotide variant (missense variant +1 more)	Vanishing white matter disease	GUncertain significance
Select item 984938	NM_014239.4(EIF2B2):c.3G>A (p.Met1Ile)	EIF2B2 (M1I)	Single nucleotide variant (missense variant +1 more)	Vanishing white matter disease	GLikely pathogenic
Select item 280422	NM_014239.4(EIF2B2):c.3G>T (p.Met1Ile)	EIF2B2 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2233046	NM_014239.4(EIF2B2):c.5C>T (p.Pro2Leu)	EIF2B2 (P2L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2804580	NM_014239.4(EIF2B2):c.6G>A (p.Pro2=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892976	NM_014239.4(EIF2B2):c.9A>T (p.Gly3=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786561	NM_014239.4(EIF2B2):c.12C>G (p.Ser4=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740891	NM_014239.4(EIF2B2):c.15A>C (p.Ala5=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076112	NM_014239.4(EIF2B2):c.16G>C (p.Ala6Pro)	EIF2B2 (A6P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2240657	NM_014239.4(EIF2B2):c.22G>A (p.Gly8Ser)	EIF2B2 (G8S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1411829	NM_014239.4(EIF2B2):c.23G>C (p.Gly8Ala)	EIF2B2 (G8A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2559162	NM_014239.4(EIF2B2):c.32T>C (p.Leu11Ser)	EIF2B2 (L11S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1517412	NM_014239.4(EIF2B2):c.34T>C (p.Ser12Pro)	EIF2B2 (S12P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2865303	NM_014239.4(EIF2B2):c.39G>A (p.Glu13=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 984939	NM_014239.4(EIF2B2):c.42del (p.Ile15fs)	EIF2B2 (I15fs)	Deletion (frameshift variant)	Vanishing white matter disease	GPathogenic
Select item 2877269	NM_014239.4(EIF2B2):c.48G>A (p.Glu16=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988225	NM_014239.4(EIF2B2):c.51C>T (p.Ser17=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1959430	NM_014239.4(EIF2B2):c.63C>T (p.Thr21=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732249	NM_014239.4(EIF2B2):c.64C>T (p.Leu22=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2848140	NM_014239.4(EIF2B2):c.66G>T (p.Leu22=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700079	NM_014239.4(EIF2B2):c.72G>C (p.Arg24=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 753033	NM_014239.4(EIF2B2):c.76G>C (p.Gly26Arg)	EIF2B2 (G26R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1960264	NM_014239.4(EIF2B2):c.81G>A (p.Gly27=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978321	NM_014239.4(EIF2B2):c.84G>C (p.Pro28=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094621	NM_014239.4(EIF2B2):c.89G>T (p.Ser30Ile)	EIF2B2 (S30I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030309	NM_014239.4(EIF2B2):c.94G>T (p.Glu32Ter)	EIF2B2 (E32*)	Single nucleotide variant (nonsense)	Vanishing white matter disease	GPathogenic
Select item 888259	NM_014239.4(EIF2B2):c.96G>A (p.Glu32=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3087896	NM_014239.4(EIF2B2):c.109G>A (p.Glu37Lys)	EIF2B2 (E37K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3005446	NM_014239.4(EIF2B2):c.117A>G (p.Leu39=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 885151	NM_014239.4(EIF2B2):c.119G>C (p.Gly40Ala)	EIF2B2 (G40A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1549192	NM_014239.4(EIF2B2):c.120G>A (p.Gly40=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1466952	NM_014239.4(EIF2B2):c.127C>T (p.Arg43Cys)	EIF2B2 (R43C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2110898	NM_014239.4(EIF2B2):c.128G>A (p.Arg43His)	EIF2B2 (R43H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2793099	NM_014239.4(EIF2B2):c.129C>G (p.Arg43=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3087897	NM_014239.4(EIF2B2):c.131A>G (p.Gln44Arg)	EIF2B2 (Q44R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1967402	NM_014239.4(EIF2B2):c.138C>T (p.Ile46=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1461121	NM_014239.4(EIF2B2):c.151T>C (p.Trp51Arg)	EIF2B2 (W51R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956261	NM_014239.4(EIF2B2):c.156C>A (p.Ser52Arg)	EIF2B2 (S52R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 885152	NM_014239.4(EIF2B2):c.159C>G (p.Asn53Lys)	EIF2B2 (N53K)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 1988911	NM_014239.4(EIF2B2):c.163G>A (p.Gly55Arg)	EIF2B2 (G55R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2882070	NM_014239.4(EIF2B2):c.163+1G>A	EIF2B2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2975706	NM_014239.4(EIF2B2):c.163+8C>T	EIF2B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2768116	NM_014239.4(EIF2B2):c.163+10G>C	EIF2B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960689	NM_014239.4(EIF2B2):c.163+16C>G	EIF2B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2727894	NM_014239.4(EIF2B2):c.163+16C>T	EIF2B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023937	NM_014239.4(EIF2B2):c.163+18C>T	EIF2B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932791	NM_014239.4(EIF2B2):c.163+19C>T	EIF2B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790495	NM_014239.4(EIF2B2):c.164-20CT[3]	EIF2B2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2997546	NM_014239.4(EIF2B2):c.164-17T>C	EIF2B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1647075	NM_014239.4(EIF2B2):c.164-16C>T	EIF2B2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2786666	NM_014239.4(EIF2B2):c.164-13T>G	EIF2B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872092	NM_014239.4(EIF2B2):c.164-12T>A	EIF2B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960985	NM_014239.4(EIF2B2):c.164-4G>C	EIF2B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955162	NM_014239.4(EIF2B2):c.164-4G>A	EIF2B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1319787	NM_014239.4(EIF2B2):c.165G>A (p.Gly55=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2428473	NM_014239.4(EIF2B2):c.182T>C (p.Ile61Thr)	EIF2B2 (I61T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 758744	NM_014239.4(EIF2B2):c.183C>T (p.Ile61=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1974488	NM_014239.4(EIF2B2):c.186C>T (p.Arg62=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2072106	NM_014239.4(EIF2B2):c.189A>G (p.Arg63=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835372	NM_014239.4(EIF2B2):c.195C>G (p.Gly65=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785326	NM_014239.4(EIF2B2):c.201G>A (p.Arg67=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738802	NM_014239.4(EIF2B2):c.213T>A (p.Ala71=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747005	NM_014239.4(EIF2B2):c.222C>T (p.Ser74=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807311	NM_014239.4(EIF2B2):c.228C>T (p.Thr76=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085316	NM_014239.4(EIF2B2):c.229A>C (p.Thr77Pro)	EIF2B2 (T77P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 885153	NM_014239.4(EIF2B2):c.229A>G (p.Thr77Ala)	EIF2B2 (T77A)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GUncertain significance
Select item 2847056	NM_014239.4(EIF2B2):c.234G>A (p.Val78=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 40180	NM_014239.4(EIF2B2):c.254T>A (p.Val85Glu)	EIF2B2 (V85E)	Single nucleotide variant (missense variant)	Vanishing white matter disease +2 more	GPathogenic/Likely pathogenic
Select item 2825474	NM_014239.4(EIF2B2):c.267C>T (p.Ile89=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 314330	NM_014239.4(EIF2B2):c.271G>C (p.Glu91Gln)	EIF2B2 (E91Q)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 2988297	NM_014239.4(EIF2B2):c.282C>A (p.Gly94=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2003265	NM_014239.4(EIF2B2):c.284+5_284+7del	EIF2B2	Deletion (intron variant)	not provided	GUncertain significance
Select item 1909698	NM_014239.4(EIF2B2):c.284+6G>A	EIF2B2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2003266	NM_014239.4(EIF2B2):c.284+8T>C	EIF2B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1598875	NM_014239.4(EIF2B2):c.284+16T>A	EIF2B2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2834670	NM_014239.4(EIF2B2):c.284+20C>T	EIF2B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880218	NM_014239.4(EIF2B2):c.285-19G>T	EIF2B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1374848	NM_014239.4(EIF2B2):c.285-19G>A	EIF2B2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2782007	NM_014239.4(EIF2B2):c.285-12T>C	EIF2B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851158	NM_014239.4(EIF2B2):c.285-10G>T	EIF2B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1549348	NM_014239.4(EIF2B2):c.285-10G>A	EIF2B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1906585	NM_014239.4(EIF2B2):c.285-7T>A	EIF2B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791473	NM_014239.4(EIF2B2):c.285-5T>A	EIF2B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890323	NM_014239.4(EIF2B2):c.285-4A>T	EIF2B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205361	NM_014239.4(EIF2B2):c.285-1G>A	EIF2B2	Single nucleotide variant (splice acceptor variant)	Vanishing white matter disease +1 more	GLikely pathogenic
Select item 1496378	NM_014239.4(EIF2B2):c.298A>T (p.Ser100Cys)	EIF2B2 (S100C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1465399	NM_014239.4(EIF2B2):c.310G>A (p.Asp104Asn)	EIF2B2 (D104N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3087898	NM_014239.4(EIF2B2):c.312T>A (p.Asp104Glu)	EIF2B2 (D104E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2971981	NM_014239.4(EIF2B2):c.324C>G (p.Ser108=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731447	NM_014239.4(EIF2B2):c.325C>T (p.Leu109=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 798875	NM_014239.4(EIF2B2):c.342A>T (p.Thr114=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860343	NM_014239.4(EIF2B2):c.351C>G (p.Gly117=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778191	NM_014239.4(EIF2B2):c.354A>G (p.Leu118=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841267	NM_014239.4(EIF2B2):c.365del (p.Phe122fs)	EIF2B2 (F122fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1039641	NM_014239.4(EIF2B2):c.367A>G (p.Ser123Gly)	EIF2B2 (S123G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2878965	NM_014239.4(EIF2B2):c.372C>T (p.Phe124=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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