ClinVar for MedGen (Select 1719764) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242031	NM_014413.4(EIF2AK1):c.1520A>G (p.Tyr507Cys)	EIF2AK1 (Y506C +1 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome	GUncertain significance
Select item 3068047	NM_014413.4(EIF2AK1):c.411+1G>A	EIF2AK1	Single nucleotide variant (splice donor variant)	Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome	GUncertain significance
Select item 2441945	NM_014413.4(EIF2AK1):c.1447A>T (p.Arg483Ter)	EIF2AK1 (R482* +1 more)	Single nucleotide variant (nonsense)	Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome	GUncertain significance
Select item 2441200	NM_014413.4(EIF2AK1):c.1510G>T (p.Gly504Ter)	EIF2AK1 (G503* +1 more)	Single nucleotide variant (nonsense)	Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome	GUncertain significance
Select item 1679575	NM_014413.4(EIF2AK1):c.1144A>G (p.Ile382Val)	EIF2AK1 (I381V +1 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome	GUncertain significance
Select item 804245	NM_014413.4(EIF2AK1):c.1342A>G (p.Ile448Val)	EIF2AK1 (I447V +1 more)	Single nucleotide variant (missense variant)	EIF2AK1-related disorder	GUncertain significance

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