C3150986[trait identifier] AND "Rady Children's Institute for Genomic - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21809	NM_172107.4(KCNQ2):c.997C>T (p.Arg333Trp)	KCNQ2 (R333W)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 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 405208	NM_172107.4(KCNQ2):c.875T>C (p.Leu292Pro)	KCNQ2 (L292P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 692002	NM_172107.4(KCNQ2):c.727C>G (p.Leu243Val)	KCNQ2 (L243V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7 +1 more	GPathogenic/Likely pathogenic
Select item 279931	NM_172107.4(KCNQ2):c.629G>A (p.Arg210His)	KCNQ2 (R210H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7 +2 more	GPathogenic
Select item 520399	NM_172107.4(KCNQ2):c.430C>G (p.Arg144Gly)	KCNQ2 (R144G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7 +2 more	GPathogenic/Likely pathogenic

ClinVar