ClinVar for MedGen (Select 1719567) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582388	NM_001135651.3(EIF2AK2):c.950A>G (p.His317Arg)	EIF2AK2 (H276R +1 more)	Single nucleotide variant (missense variant)	Dystonia 33 +1 more	GUncertain significance
Select item 1707617	NM_001135651.3(EIF2AK2):c.1631A>G (p.Glu544Gly)	EIF2AK2 (E503G +1 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome	GUncertain significance
Select item 1696435	NM_001135651.3(EIF2AK2):c.268A>G (p.Thr90Ala)	EIF2AK2 (T90A)	Single nucleotide variant (missense variant)	Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome	GUncertain significance
Select item 1342569	NM_001135651.3(EIF2AK2):c.971A>G (p.Asn324Ser)	EIF2AK2 (N283S +1 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1174083	NM_001135651.3(EIF2AK2):c.452A>G (p.Gln151Arg)	EIF2AK2 (Q151R)	Single nucleotide variant (missense variant)	Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome	GLikely pathogenic
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 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 818200	NM_001135651.3(EIF2AK2):c.1382C>G (p.Ser461Cys)	EIF2AK2 (S420C +1 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome +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 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 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 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 804246	NM_001135651.3(EIF2AK2):c.31A>C (p.Met11Leu)	EIF2AK2 (M11L)	Single nucleotide variant (missense variant)	EIF2AK2-related disorder +1 more	GUncertain significance