"3billion"[submitter] AND "CHD2"[gene] - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705286	NM_001271.4(CHD2):c.1570dup (p.Ser524fs)	CHD2 (S524fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy 94	GLikely pathogenic
Select item 1705613	NM_001271.4(CHD2):c.1898dup (p.Ile634fs)	CHD2 (I634fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy 94	GLikely pathogenic
Select item 1320064	NM_001271.4(CHD2):c.2667_2668insGTTTTG (p.Trp889_Asn890insValLeu)	CHD2	Insertion (inframe_insertion)	Developmental and epileptic encephalopathy 94	GLikely pathogenic

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