"Revvity Omics, Revvity"[submitter] AND "KCNA1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1474794	NM_000217.3(KCNA1):c.16G>A (p.Gly6Arg)	KCNA1, LOC130007218 (G6R)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 804963	NM_000217.3(KCNA1):c.61G>A (p.Asp21Asn)	KCNA1 (D21N)	Single nucleotide variant (missense variant)	Episodic ataxia type 1 +1 more	GUncertain significance
Select item 2689282	NM_000217.3(KCNA1):c.457G>T (p.Val153Leu)	KCNA1 (V153L)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2432986	NM_000217.3(KCNA1):c.502G>A (p.Val168Ile)	KCNA1 (V168I)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2432985	NM_000217.3(KCNA1):c.608A>G (p.His203Arg)	KCNA1 (H203R)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 427198	NM_000217.3(KCNA1):c.941T>C (p.Ile314Thr)	KCNA1 (I314T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic

ClinVar