"Ambry Genetics"[submitter] AND "EIF3L"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2343378	NM_016091.4(EIF3L):c.371A>G (p.Asn124Ser)	EIF3L (N124S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2538562	NM_016091.4(EIF3L):c.535C>T (p.Pro179Ser)	EIF3L (P179S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402758	NM_016091.4(EIF3L):c.980G>T (p.Arg327Leu)	EIF3L (R229L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301939	NM_016091.4(EIF3L):c.1058C>G (p.Thr353Ser)	EIF3L (T255S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313797	NM_016091.4(EIF3L):c.1061C>T (p.Thr354Met)	EIF3L (T256M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615254	NM_016091.4(EIF3L):c.1162C>T (p.Leu388Phe)	EIF3L (L290F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206565	NM_016091.4(EIF3L):c.1460G>A (p.Arg487Gln)	EIF3L (R439Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548189	NM_016091.4(EIF3L):c.1606G>A (p.Ala536Thr)	EIF3L (A488T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance