"EIF2AK2-related disorder"[Disease/phenotype] AND "Undiagnosed Disease - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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