"Ambry 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 2540056	NM_000217.3(KCNA1):c.25G>A (p.Val9Met)	KCNA1, LOC130007218 (V9M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 961458	NM_000217.3(KCNA1):c.43G>T (p.Ala15Ser)	KCNA1, LOC130007218 (A15S)	Single nucleotide variant (missense variant)	Episodic ataxia type 1 +1 more	GUncertain significance
Select item 374425	NM_000217.3(KCNA1):c.53A>C (p.His18Pro)	KCNA1 (H18P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2534190	NM_000217.3(KCNA1):c.80A>C (p.Gln27Pro)	KCNA1 (Q27P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2534191	NM_000217.3(KCNA1):c.87C>G (p.Asp29Glu)	KCNA1 (D29E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2252910	NM_000217.3(KCNA1):c.122T>C (p.Ile41Thr)	KCNA1 (I41T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 639858	NM_000217.3(KCNA1):c.136C>A (p.Leu46Met)	KCNA1 (L46M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1003091	NM_000217.3(KCNA1):c.179A>G (p.Asn60Ser)	KCNA1 (N60S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 463862	NM_000217.3(KCNA1):c.224C>A (p.Pro75His)	KCNA1 (P75H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2481701	NM_000217.3(KCNA1):c.250C>A (p.Arg84Ser)	KCNA1 (R84S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 13482	NM_000217.3(KCNA1):c.520G>T (p.Val174Phe)	KCNA1 (V174F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 2474718	NM_000217.3(KCNA1):c.637A>T (p.Asn213Tyr)	KCNA1 (N213Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236795	NM_000217.3(KCNA1):c.745TTC[1] (p.Phe250del)	KCNA1 (F250del)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GLikely pathogenic
Select item 208748	NM_000217.3(KCNA1):c.1202C>T (p.Ala401Val)	KCNA1 (A401V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 985808	NM_000217.3(KCNA1):c.1213C>G (p.Pro405Ala)	KCNA1 (P405A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 195042	NM_000217.3(KCNA1):c.1327C>G (p.Arg443Gly)	KCNA1 (R443G)	Single nucleotide variant (missense variant)	KCNA1-related condition +4 more	GBenign/Likely benign
Select item 586089	NM_000217.3(KCNA1):c.1346T>C (p.Met449Thr)	KCNA1 (M449T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance