C3809278[trait identifier] AND "Diagnostic Genetics, Severance Hospita - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1803018	NM_001271.4(CHD2):c.2605_2606delinsTT (p.Ala869Phe)	CHD2 (A869F)	Indel (missense variant)	Developmental and epileptic encephalopathy 94	GLikely pathogenic
Select item 1803017	NM_001271.4(CHD2):c.4137+3A>G	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely pathogenic