"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "CHD2"[gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 541363	NM_001271.4(CHD2):c.688G>A (p.Val230Ile)	CHD2 (V230I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 3377582	NM_001271.4(CHD2):c.1053-2A>T	CHD2	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy 94	GLikely pathogenic
Select item 3377688	NM_001271.4(CHD2):c.1823G>A (p.Ser608Asn)	CHD2 (S608N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2578748	NM_001271.4(CHD2):c.2647G>A (p.Val883Ile)	CHD2 (V883I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3341450	NM_001271.4(CHD2):c.3780G>C (p.Glu1260Asp)	CHD2 (E1260D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 421694	NM_001271.4(CHD2):c.4961A>G (p.Asn1654Ser)	CHD2 (N1654S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +1 more	GConflicting classifications of pathogenicity
Select item 855780	NM_001271.4(CHD2):c.5071C>T (p.Pro1691Ser)	CHD2 (P1691S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance

ClinVar