"GeneDx"[submitter] AND "EIF2B1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 1703884	NM_001414.4(EIF2B1):c.449T>C (p.Val150Ala)	EIF2B1 (V150A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 806960	NM_001414.4(EIF2B1):c.430G>A (p.Ala144Thr)	EIF2B1 (A144T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4123	NM_001414.4(EIF2B1):c.252+1G>A	EIF2B1	Single nucleotide variant (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3375980	NM_001414.4(EIF2B1):c.205G>A (p.Gly69Arg)	EIF2B1 (G69R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375979	NM_001414.4(EIF2B1):c.115+1G>T	EIF2B1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance

ClinVar