CN169299[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 639127	NM_172107.4(KCNQ2):c.1927A>C (p.Ile643Leu)	KCNQ2 (I612L +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 219235	NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val)	KCNQ2 (A306V)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 198284	NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg)	KCNQ2 (G281R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 418726	NM_172107.4(KCNQ2):c.506G>T (p.Cys169Phe)	KCNQ2 (C169F)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 520399	NM_172107.4(KCNQ2):c.430C>G (p.Arg144Gly)	KCNQ2 (R144G)	Single nucleotide variant (missense variant)	KCNQ2-Related Disorders +2 more	GPathogenic/Likely pathogenic
Select item 21787	NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu)	KCNQ2 (S122L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7 +4 more	GPathogenic/Likely pathogenic

ClinVar