"SIB Swiss Institute of Bioinformatics"[submitter] AND "EIF2AK2"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 818200	NM_001135651.3(EIF2AK2):c.1382C>G (p.Ser461Cys)	EIF2AK2 (S420C +1 more)	Single nucleotide variant (missense variant)	Global developmental delay +3 more	GConflicting classifications of pathogenicity
Select item 818084	NM_001135651.3(EIF2AK2):c.973G>A (p.Gly325Ser)	EIF2AK2 (G284S +1 more)	Single nucleotide variant (missense variant)	Cognitive impairment +1 more	GConflicting classifications of pathogenicity
Select item 1691705	NM_001135651.3(EIF2AK2):c.413G>C (p.Gly138Ala)	EIF2AK2 (G138A)	Single nucleotide variant (missense variant)	Dystonia 33	GUncertain significance
Select item 804253	NM_001135651.3(EIF2AK2):c.398A>T (p.Tyr133Phe)	EIF2AK2 (Y133F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1332910	NM_001135651.3(EIF2AK2):c.388G>C (p.Gly130Arg)	EIF2AK2 (G130R)	Single nucleotide variant (missense variant)	Dystonia 33	GLikely pathogenic
Select item 1332908	NM_001135651.3(EIF2AK2):c.388G>A (p.Gly130Arg)	EIF2AK2 (G130R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 813274	NM_001135651.3(EIF2AK2):c.326C>T (p.Ala109Val)	EIF2AK2 (A109V)	Single nucleotide variant (missense variant)	Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome +3 more	GUncertain significance
Select item 872962	NM_001135651.3(EIF2AK2):c.325G>T (p.Ala109Ser)	EIF2AK2	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 813275	NM_001135651.3(EIF2AK2):c.290C>T (p.Ser97Phe)	EIF2AK2 (S97F)	Single nucleotide variant (missense variant)	Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome +3 more	GUncertain significance
Select item 1332909	NM_001135651.3(EIF2AK2):c.95A>C (p.Asn32Thr)	EIF2AK2 (N32T)	Single nucleotide variant (missense variant)	Dystonia 33	GUncertain significance
Select item 872963	NM_001135651.3(EIF2AK2):c.95A>G (p.Asn32Ser)	EIF2AK2 (N32S)	Single nucleotide variant (missense variant)	Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome	GUncertain significance
Select item 804246	NM_001135651.3(EIF2AK2):c.31A>C (p.Met11Leu)	EIF2AK2 (M11L)	Single nucleotide variant (missense variant)	EIF2AK2-related disorder +1 more	GUncertain significance