"Fulgent Genetics, Fulgent Genetics"[submitter] AND "KCNA1"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374425	NM_000217.3(KCNA1):c.53A>C (p.His18Pro)	KCNA1 (H18P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 447612	NM_000217.3(KCNA1):c.60G>C (p.Gln20His)	KCNA1 (Q20H)	Single nucleotide variant (missense variant)	Episodic ataxia type 1 +1 more	GConflicting classifications of pathogenicity
Select item 435546	NM_000217.3(KCNA1):c.76C>T (p.Arg26Trp)	KCNA1 (R26W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 447608	NM_000217.3(KCNA1):c.114C>T (p.Arg38=)	KCNA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 1595211	NM_000217.3(KCNA1):c.297C>T (p.Gly99=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 447610	NM_000217.3(KCNA1):c.393G>A (p.Arg131=)	KCNA1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 948787	NM_000217.3(KCNA1):c.421G>A (p.Glu141Lys)	KCNA1 (E141K)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 744122	NM_000217.3(KCNA1):c.435C>T (p.Pro145=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 1396673	NM_000217.3(KCNA1):c.631A>G (p.Ile211Val)	KCNA1 (I211V)	Single nucleotide variant (missense variant)	Episodic ataxia type 1 +1 more	GConflicting classifications of pathogenicity
Select item 998939	NM_000217.3(KCNA1):c.641C>T (p.Ser214Phe)	KCNA1 (S214F)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 779055	NM_000217.3(KCNA1):c.654A>T (p.Thr218=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GBenign/Likely benign
Select item 309146	NM_000217.3(KCNA1):c.1125C>T (p.Tyr375=)	KCNA1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 463860	NM_000217.3(KCNA1):c.1170C>G (p.Ser390=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 1351662	NM_000217.3(KCNA1):c.1333A>G (p.Ser445Gly)	KCNA1 (S445G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1055177	NM_000217.3(KCNA1):c.1378G>T (p.Asp460Tyr)	KCNA1 (D460Y)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 1349811	NM_000217.3(KCNA1):c.1430A>G (p.Asn477Ser)	KCNA1 (N477S)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance