C3149074[trait identifier] AND "Rady Children's Institute for Genomic - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21768	NM_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter)	KCNQ2 (R581* +3 more)	Single nucleotide variant (nonsense)	Seizures, benign familial neonatal, 1 +4 more	GPathogenic
Select item 369778	NM_172107.4(KCNQ2):c.1051C>G (p.Leu351Val)	KCNQ2 (L351V)	Single nucleotide variant (missense variant)	Epilepsy, benign neonatal, 1, and/or myokymia	GLikely pathogenic
Select item 205886	NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)	KCNQ2 (A294V)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic

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ClinVar