"GeneDx"[submitter] AND "EIF5A"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1695672	NM_001970.5(EIF5A):c.124G>A (p.Glu42Lys)	EIF5A (E42K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1242483	NM_001970.5(EIF5A):c.166-10A>G	EIF5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3253486	NM_001970.5(EIF5A):c.237G>A (p.Met79Ile)	EIF5A (M109I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580665	NM_001970.5(EIF5A):c.270+1G>A	EIF5A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3369240	NM_001970.5(EIF5A):c.316G>A (p.Gly106Arg)	EIF5A (G106R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1164080	NM_001970.5(EIF5A):c.325C>T (p.Arg109Ter)	EIF5A (R109* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 3373498	NM_001970.5(EIF5A):c.333C>A (p.Asp111Glu)	EIF5A (D111E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253038	NM_001970.5(EIF5A):c.337C>T (p.Arg113Cys)	EIF5A (R113C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327680	NM_001970.5(EIF5A):c.343C>T (p.Pro115Ser)	EIF5A (P115S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 513063	NM_001970.5(EIF5A):c.403-4C>T	EIF5A	Single nucleotide variant (intron variant)	not specified	GLikely benign