"Stanford Center for Inherited Cardiovascular Disease, Stanford Univer - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 200847	NM_000218.3(KCNQ1):c.1394-1G>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +3 more	GPathogenic
Select item 200848	NM_000218.3(KCNQ1):c.1426A>G (p.Met476Val)	KCNQ1, KCNQ1OT1 (M349V +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance