"Center for Human Genetics, University of Leuven"[submitter] AND "KCNQ - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3135	NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=)	KCNQ1	Single nucleotide variant (synonymous variant)	Beckwith-Wiedemann syndrome +6 more	GPathogenic
Select item 427960	NM_000218.3(KCNQ1):c.1885G>A (p.Gly629Ser)	KCNQ1, KCNQ1-AS1 (G502S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GUncertain significance