"Center for Pediatric Genomic Medicine, Children's Mercy Hospital and - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138026	NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=)	KCNQ2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 205917	NM_172107.4(KCNQ2):c.1687G>A (p.Asp563Asn)	KCNQ2 (D563N +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7 +4 more	GPathogenic
Select item 205912	NM_172107.4(KCNQ2):c.1639C>T (p.Arg547Trp)	KCNQ2 (R547W +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic/Likely pathogenic
Select item 445484	NM_172107.4(KCNQ2):c.1545G>T (p.Glu515Asp)	KCNQ2 (E515D +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 445403	NM_172107.4(KCNQ2):c.1065C>G (p.Asp355Glu)	KCNQ2 (D355E)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 205886	NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)	KCNQ2 (A294V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7 +4 more	GPathogenic

ClinVar