C1719788[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1712329	NM_000217.3(KCNA1):c.460T>G (p.Trp154Gly)	KCNA1 (W154G)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 1697293	NM_000217.3(KCNA1):c.847G>A (p.Glu283Lys)	KCNA1 (E283K)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GPathogenic/Likely pathogenic
Select item 2576584	NM_000217.3(KCNA1):c.863T>A (p.Leu288Gln)	KCNA1 (L288Q)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GLikely pathogenic

Format

Sort by

Choose Destination