"GeneDx"[submitter] AND "EIF2AK2"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367652	NM_001135651.3(EIF2AK2):c.1546C>T (p.Gln516Ter)	EIF2AK2 (Q475* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3371294	NM_001135651.3(EIF2AK2):c.1430T>A (p.Ile477Asn)	EIF2AK2 (I436N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253395	NM_001135651.3(EIF2AK2):c.1352C>T (p.Thr451Ile)	EIF2AK2 (T410I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579825	NM_001135651.3(EIF2AK2):c.1344dup (p.Lys449Ter)	EIF2AK2 (K408* +1 more)	Duplication (nonsense)	not provided	GUncertain significance
Select item 2504333	NM_001135651.3(EIF2AK2):c.1272T>A (p.Asp424Glu)	EIF2AK2 (D383E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368923	NM_001135651.3(EIF2AK2):c.1259T>C (p.Ile420Thr)	EIF2AK2 (I379T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378047	NM_001135651.3(EIF2AK2):c.1234C>A (p.His412Asn)	EIF2AK2 (H371N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370945	NM_001135651.3(EIF2AK2):c.1211A>G (p.Tyr404Cys)	EIF2AK2 (Y363C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806794	NM_001135651.3(EIF2AK2):c.1130G>T (p.Trp377Leu)	EIF2AK2 (W336L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343107	NM_001135651.3(EIF2AK2):c.1099del (p.Glu367fs)	EIF2AK2 (E326fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2502698	NM_001135651.3(EIF2AK2):c.871A>G (p.Lys291Glu)	EIF2AK2 (K291E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2444677	NM_001135651.3(EIF2AK2):c.722+1del	EIF2AK2	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 3371852	NM_001135651.3(EIF2AK2):c.713A>G (p.Lys238Arg)	EIF2AK2 (K238R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253536	NM_001135651.3(EIF2AK2):c.517-10T>G	EIF2AK2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2442674	NM_001135651.3(EIF2AK2):c.505G>C (p.Glu169Gln)	EIF2AK2 (E169Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707161	NM_001135651.3(EIF2AK2):c.362G>T (p.Cys121Phe)	EIF2AK2 (C121F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367848	NM_001135651.3(EIF2AK2):c.53G>A (p.Arg18His)	EIF2AK2 (R18H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315570	NM_001135651.3(EIF2AK2):c.-183-125C>T	EIF2AK2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3360040	NM_001135651.3(EIF2AK2):c.61C>G (p.Gln21Glu)	EIF2AK2 (Q21E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359835	NM_001135651.3(EIF2AK2):c.836G>C (p.Gly279Ala)	EIF2AK2 (G279A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 20