"GeneDx"[submitter] AND "EIF2B4"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 631858	NM_001034116.2(EIF2B4):c.1505C>T (p.Thr502Met)	EIF2B4, GTF3C2-AS2 (T501M +7 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GConflicting classifications of pathogenicity
Select item 1230939	NM_001034116.2(EIF2B4):c.1192-158del	EIF2B4, GTF3C2-AS2	Deletion (intron variant)	not provided	GBenign
Select item 1275286	NM_001034116.2(EIF2B4):c.1191+81_1191+82insAA	EIF2B4, GTF3C2-AS2	Insertion (intron variant)	not provided	GBenign
Select item 4118	NM_001034116.2(EIF2B4):c.1120C>T (p.Arg374Cys)	EIF2B4, GTF3C2-AS2 (R374C +7 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 95736	NM_001034116.2(EIF2B4):c.1014-7A>G	GTF3C2-AS2, EIF2B4	Single nucleotide variant (intron variant)	Vanishing white matter disease +2 more	GBenign
Select item 128989	NM_001034116.2(EIF2B4):c.729G>A (p.Pro243=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	Vanishing white matter disease +2 more	GBenign/Likely benign
Select item 420062	NM_001034116.2(EIF2B4):c.728C>T (p.Pro243Leu)	EIF2B4, GTF3C2-AS2 (P242L +7 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 1 +3 more	GPathogenic/Likely pathogenic
Select item 1684073	NM_001034116.2(EIF2B4):c.691C>T (p.Arg231Cys)	EIF2B4 (R200C +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366190	NM_001034116.2(EIF2B4):c.673C>T (p.Arg225Trp)	EIF2B4 (R194W +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 420063	NM_001034116.2(EIF2B4):c.626G>A (p.Arg209Gln)	EIF2B4 (R208Q +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1228975	NM_001034116.2(EIF2B4):c.591-103G>A	EIF2B4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183878	NM_001034116.2(EIF2B4):c.419-73C>T	EIF2B4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257940	NM_001034116.2(EIF2B4):c.419-108C>T	EIF2B4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240466	NM_001034116.2(EIF2B4):c.418+69A>G	EIF2B4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294815	NM_001034116.2(EIF2B4):c.211+66_211+76del	EIF2B4	Deletion (intron variant)	not provided	GBenign
Select item 95738	NM_001034116.2(EIF2B4):c.76-7G>A	EIF2B4	Single nucleotide variant (intron variant)	Vanishing white matter disease +2 more	GBenign