ClinVar for PubMed (Select 24552659) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2724418	NM_000218.3(KCNQ1):c.477+1G>C	KCNQ1	Single nucleotide variant (splice donor variant)	Long QT syndrome	GPathogenic
Select item 1350731	NM_000218.3(KCNQ1):c.477+2T>C	KCNQ1	Single nucleotide variant (splice donor variant)	Long QT syndrome	GPathogenic
Select item 200874	NM_000218.3(KCNQ1):c.477+1G>A	KCNQ1	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +5 more	GPathogenic
Select item 52996	NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter)	KCNQ1 (Q530* +4 more)	Single nucleotide variant (nonsense)	KCNQ1-related condition +9 more	GPathogenic
Select item 3131	NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)	KCNQ1 (R518* +4 more)	Single nucleotide variant (nonsense)	Conduction disorder of the heart +8 more	GPathogenic

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