"Autosomal dominant KCNQ1-related disease"[Disease/phenotype] AND "Bio - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 800853	NM_000218.3(KCNQ1):c.586A>C (p.Lys196Gln)	KCNQ1 (K196Q +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 800846	NM_000218.3(KCNQ1):c.1514+3290A>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	Autosomal dominant KCNQ1-related disease	GUncertain significance