"Rady Children's Institute for Genomic Medicine, Rady Children's Hospi - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 53072	NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)	KCNQ1 (R192fs +1 more)	Deletion (frameshift variant)	Long QT syndrome 1 +8 more	GPathogenic
Select item 67088	NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln)	KCNQ1 (R195Q +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 53083	NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)	KCNQ1 (S225L +2 more)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 3 +9 more	GPathogenic/Likely pathogenic
Select item 53085	NM_000218.3(KCNQ1):c.686G>A (p.Gly229Asp)	KCNQ1 (G229D +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 842027	NM_000218.3(KCNQ1):c.1069C>T (p.Gln357Ter)	KCNQ1 (Q230* +2 more)	Single nucleotide variant (nonsense)	Long QT syndrome +1 more	GPathogenic/Likely pathogenic
Select item 52953	NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)	KCNQ1 (K362R +2 more)	Single nucleotide variant (missense variant)	Congenital long QT syndrome +22 more	GPathogenic/Likely pathogenic
Select item 3131	NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)	KCNQ1 (R518* +4 more)	Single nucleotide variant (nonsense)	Long QT syndrome 1 +8 more	GPathogenic

ClinVar