"Eurofins Ntd Llc (ga)"[submitter] AND "KCNA1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 282124	NM_000217.3(KCNA1):c.144C>T (p.Phe48=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1 +1 more	GConflicting classifications of pathogenicity
Select item 195044	NM_000217.3(KCNA1):c.237G>A (p.Glu79=)	KCNA1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 290682	NM_000217.3(KCNA1):c.611G>A (p.Arg204His)	KCNA1 (R204H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 282028	NM_000217.3(KCNA1):c.1222G>A (p.Val408Met)	KCNA1 (V408M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195045	NM_000217.3(KCNA1):c.1296C>G (p.Ser432=)	KCNA1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 195042	NM_000217.3(KCNA1):c.1327C>G (p.Arg443Gly)	KCNA1 (R443G)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 129313	NM_000217.3(KCNA1):c.1440T>A (p.Thr480=)	KCNA1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 195046	NM_000217.3(KCNA1):c.1479C>A (p.Thr493=)	KCNA1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 195043	NM_000217.3(KCNA1):c.*9G>A	KCNA1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign