"Neurogenetics Laboratory - MEYER, AOU Meyer"[submitter] AND "KCNQ2"[g - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 205850	NM_172107.4(KCNQ2):c.2329C>T (p.Pro777Ser)	KCNQ2 (P777S +4 more)	Single nucleotide variant (missense variant)	Continuous spike and waves during slow sleep +3 more	GConflicting classifications of pathogenicity
Select item 21769	NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln)	KCNQ2 (R581Q +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 369770	NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser)	KCNQ2 (G301S)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +3 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 375517	NM_172107.4(KCNQ2):c.873G>T (p.Arg291Ser)	KCNQ2 (R291S)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 369763	NM_172107.4(KCNQ2):c.802C>T (p.Leu268Phe)	KCNQ2 (L268F)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic/Likely pathogenic
Select item 375518	NM_172107.4(KCNQ2):c.798T>A (p.Asp266Glu)	KCNQ2 (D266E)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GPathogenic

ClinVar