"GeneDx"[submitter] AND "EIF2B3"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 95945	NM_020365.5(EIF2B3):c.1202+8T>G	EIF2B3 (S404A)	Single nucleotide variant (missense variant +1 more)	Vanishing white matter disease +2 more	GBenign/Likely benign
Select item 1232545	NM_020365.5(EIF2B3):c.1054-205A>G	EIF2B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261223	NM_020365.5(EIF2B3):c.975+44A>T	EIF2B3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 261222	NM_020365.5(EIF2B3):c.656+35A>G	EIF2B3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1698118	NM_020365.5(EIF2B3):c.604G>T (p.Ala202Ser)	EIF2B3 (A202S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1287493	NM_020365.5(EIF2B3):c.567-134C>T	EIF2B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258642	NM_020365.5(EIF2B3):c.567-184C>G	EIF2B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 426554	NM_020365.5(EIF2B3):c.508A>C (p.Met170Leu)	EIF2B3 (M170L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1289184	NM_020365.5(EIF2B3):c.294+221C>T	EIF2B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252293	NM_020365.5(EIF2B3):c.294+93A>G	EIF2B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 431961	NM_020365.5(EIF2B3):c.272G>A (p.Arg91His)	EIF2B3 (R91H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 4439	NM_020365.5(EIF2B3):c.260C>T (p.Ala87Val)	EIF2B3 (A87V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 95946	NM_020365.5(EIF2B3):c.149-4A>G	EIF2B3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1277815	NM_020365.5(EIF2B3):c.149-177_149-162del	EIF2B3	Deletion (intron variant)	not provided	GBenign
Select item 1247710	NM_020365.5(EIF2B3):c.149-171_149-162del	EIF2B3	Deletion (intron variant)	not provided	GBenign
Select item 297450	NM_020365.5(EIF2B3):c.44G>A (p.Arg15Gln)	EIF2B3 (R15Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance