EIF2A[gene] and "single gene"[properties] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2550582	NM_032025.5(EIF2A):c.32G>A (p.Arg11Gln)	EIF2A (R11Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087847	NM_032025.5(EIF2A):c.172A>G (p.Lys58Glu)	EIF2A (K58E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2359648	NM_032025.5(EIF2A):c.235G>A (p.Val79Ile)	EIF2A (V79I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318434	NM_032025.5(EIF2A):c.343A>G (p.Lys115Glu)	EIF2A (K110E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3087848	NM_032025.5(EIF2A):c.374A>G (p.Gln125Arg)	EIF2A (Q100R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2222099	NM_032025.5(EIF2A):c.393G>T (p.Trp131Cys)	EIF2A (W126C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3087849	NM_032025.5(EIF2A):c.406T>G (p.Ser136Ala)	EIF2A (S131A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2351017	NM_032025.5(EIF2A):c.461A>G (p.Glu154Gly)	EIF2A (E149G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2280621	NM_032025.5(EIF2A):c.545A>C (p.Tyr182Ser)	EIF2A (Y121S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274935	NM_032025.5(EIF2A):c.654C>A (p.Phe218Leu)	EIF2A (F193L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528891	NM_032025.5(EIF2A):c.712A>G (p.Ile238Val)	EIF2A (I177V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309134	NM_032025.5(EIF2A):c.732C>A (p.Asp244Glu)	EIF2A (D219E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052231	NM_032025.5(EIF2A):c.824C>A (p.Pro275His)	EIF2A (P214H +4 more)	Single nucleotide variant (missense variant)	EIF2A-related disorder	GLikely benign
Select item 2270207	NM_032025.5(EIF2A):c.875A>G (p.Tyr292Cys)	EIF2A (Y287C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087851	NM_032025.5(EIF2A):c.908A>G (p.Asn303Ser)	EIF2A (N242S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087852	NM_032025.5(EIF2A):c.929T>C (p.Phe310Ser)	EIF2A (F285S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087853	NM_032025.5(EIF2A):c.947C>G (p.Pro316Arg)	EIF2A (P102R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335692	NM_032025.5(EIF2A):c.983T>C (p.Ile328Thr)	EIF2A (I303T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544753	NM_032025.5(EIF2A):c.1100C>T (p.Pro367Leu)	EIF2A (P153L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309750	NM_032025.5(EIF2A):c.1145G>A (p.Arg382Gln)	EIF2A (R168Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274933	NM_032025.5(EIF2A):c.1175A>T (p.Tyr392Phe)	EIF2A (Y367F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494318	NM_032025.5(EIF2A):c.1196A>C (p.Lys399Thr)	EIF2A (K338T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220936	NM_032025.5(EIF2A):c.1229A>C (p.Gln410Pro)	EIF2A (Q196P +4 more)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 3087846	NM_032025.5(EIF2A):c.1310A>G (p.Asn437Ser)	EIF2A (N223S +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3274932	NM_032025.5(EIF2A):c.1331C>T (p.Thr444Ile)	EIF2A (T230I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526820	NM_032025.5(EIF2A):c.1376C>G (p.Ser459Cys)	EIF2A (S398C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622172	NM_032025.5(EIF2A):c.1381T>G (p.Leu461Val)	EIF2A (L400V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459997	NM_032025.5(EIF2A):c.1473T>G (p.His491Gln)	EIF2A (H491Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309002	NM_032025.5(EIF2A):c.1486G>T (p.Ala496Ser)	EIF2A (A435S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337381	NM_032025.5(EIF2A):c.1518T>A (p.Ser506Arg)	EIF2A (S292R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404423	NM_032025.5(EIF2A):c.1663G>A (p.Ala555Thr)	EIF2A (A494T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367563	NM_032025.5(EIF2A):c.1712A>C (p.Glu571Ala)	EIF2A (E566A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 32