Related gene-specific medical variations for Gene (Select 3737) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582591	NM_004974.4(KCNA2):c.1226T>A (p.Ile409Asn)	KCNA2 (I409N)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2582555	NM_004974.4(KCNA2):c.362A>G (p.Glu121Gly)	KCNA2 (E121G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 1803044	NM_004974.4(KCNA2):c.1130A>G (p.Tyr377Cys)	KCNA2 (Y377C)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GLikely pathogenic
Select item 1803043	NM_004974.4(KCNA2):c.785C>T (p.Ala262Val)	KCNA2 (A262V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GLikely pathogenic
Select item 1341871	NM_004974.4(KCNA2):c.1375A>G (p.Met459Val)	KCNA2 (M459V)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 1174095	NM_004974.4(KCNA2):c.906T>G (p.Phe302Leu)	KCNA2 (F302L)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 1	GLikely pathogenic
Select item 977395	NM_004974.4(KCNA2):c.1496T>C (p.Val499Ala)	KCNA2 (V499A)	Single nucleotide variant (missense variant +1 more)	Seizure +1 more	GUncertain significance

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