"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 53052	NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg)	KCNQ1 (G168R +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GPathogenic
Select item 3117	NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln)	KCNQ1 (R190Q +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +5 more	GPathogenic/Likely pathogenic
Select item 53077	NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn)	KCNQ1 (D202N +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GPathogenic/Likely pathogenic
Select item 53114	NM_000218.3(KCNQ1):c.825CTC[1] (p.Ser277del)	KCNQ1 (S277del +2 more)	Microsatellite (inframe_deletion +1 more)	not provided +2 more	GPathogenic
Select item 3135	NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=)	KCNQ1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GPathogenic
Select item 52956	NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln)	KCNQ1 (R366Q +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GPathogenic/Likely pathogenic

ClinVar