"GenomeConnect, ClinGen"[submitter] AND "KCNQ1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 637975	NM_000218.3(KCNQ1):c.1685+2T>C	KCNQ1	Single nucleotide variant (splice donor variant)	Long QT syndrome 1	GPathogenic
Select item 3142	NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys)	KCNQ1 (R583C +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +8 more	GConflicting classifications of pathogenicity
Select item 1339886	GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	ANO9, AP2A2 +137 more	Copy number gain	not provided	Gnot provided

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