"Fulgent Genetics, Fulgent Genetics"[submitter] AND "KCNC1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 162519	NM_001112741.2(KCNC1):c.959G>A (p.Arg320His)	KCNC1 (R320H)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7 +2 more	GPathogenic/Likely pathogenic
Select item 1693037	NM_001112741.2(KCNC1):c.1549G>A (p.Glu517Lys)	KCNC1 (E517K)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7 +1 more	GUncertain significance