"Center of Excellence for Medical Genomics, Chulalongkorn University"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 205917	NM_172107.4(KCNQ2):c.1687G>A (p.Asp563Asn)	KCNQ2 (D563N +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GPathogenic
Select item 205913	NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp)	KCNQ2 (R553W +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GPathogenic
Select item 205886	NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)	KCNQ2 (A294V)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 1701799	NM_172107.4(KCNQ2):c.836G>A (p.Gly279Asp)	KCNQ2 (G279D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7 +1 more	GPathogenic/Likely pathogenic
Select item 167208	NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met)	KCNQ2 (T274M)	Single nucleotide variant (missense variant)	West syndrome +3 more	GPathogenic/Likely pathogenic
Select item 566350	NM_172107.4(KCNQ2):c.774C>G (p.Asn258Lys)	KCNQ2 (N258K)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 205869	NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys)	KCNQ2 (R201C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic

ClinVar