"Revvity Omics, Revvity"[submitter] AND "EIF2B5"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5945	NM_003907.3(EIF2B5):c.338G>A (p.Arg113His)	EIF2B5 (R113H)	Single nucleotide variant (missense variant)	See cases +4 more	GPathogenic
Select item 2201006	NM_003907.3(EIF2B5):c.515G>A (p.Arg172Gln)	EIF2B5 (R172Q)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 5 +1 more	GUncertain significance
Select item 666195	NM_003907.3(EIF2B5):c.1015C>T (p.Arg339Trp)	EIF2B5 (R339W)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 5 +2 more	GPathogenic/Likely pathogenic
Select item 735947	NM_003907.3(EIF2B5):c.1167G>A (p.Val389=)	EIF2B5	Single nucleotide variant (synonymous variant)	Leukoencephalopathy with vanishing white matter 5 +1 more	GConflicting classifications of pathogenicity
Select item 735948	NM_003907.3(EIF2B5):c.1608G>C (p.Glu536Asp)	EIF2B5 (E536D)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 5 +1 more	GConflicting classifications of pathogenicity
Select item 2441203	NM_003907.3(EIF2B5):c.2049C>G (p.Ser683Arg)	EIF2B5 (S683R)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 5	GUncertain significance

ClinVar