"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21128	NM_000217.3(KCNA1):c.684T>C (p.Cys228=)	KCNA1	Single nucleotide variant (synonymous variant)	Myokymia +3 more	GBenign
Select item 21130	NM_000217.3(KCNA1):c.804G>C (p.Thr268=)	KCNA1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 2687755	NM_000217.3(KCNA1):c.1214C>A (p.Pro405His)	KCNA1 (P405H)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 129313	NM_000217.3(KCNA1):c.1440T>A (p.Thr480=)	KCNA1	Single nucleotide variant (synonymous variant)	Myokymia +3 more	GBenign
Select item 195043	NM_000217.3(KCNA1):c.*9G>A	KCNA1	Single nucleotide variant (3 prime UTR variant)	Myokymia +3 more	GBenign

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