先天性QT延長症候群

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000218.3(KCNQ1):c.642C>A (p.Cys214Ter)	KCNQ1	Pathogenic/Likely pathogenic	11	2592592	2592592	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007812
single nucleotide variant	NM_000218.3(KCNQ1):c.679A>C (p.Ile227Leu)	KCNQ1	Likely pathogenic	11	2592629	2592629	A	C	criteria provided, single submitter	ClinGen:CA007887
single nucleotide variant	NM_000218.3(KCNQ1):c.701A>C (p.Gln234Pro)	KCNQ1	Likely pathogenic	11	2593260	2593260	A	C	criteria provided, single submitter	ClinGen:CA007932
single nucleotide variant	NM_000218.3(KCNQ1):c.707T>G (p.Leu236Arg)	KCNQ1	Likely pathogenic	11	2593266	2593266	T	G	criteria provided, single submitter	ClinGen:CA007950
single nucleotide variant	NM_000218.3(KCNQ1):c.758C>T (p.Ser253Phe)	KCNQ1	Likely pathogenic	11	2593317	2593317	C	T	criteria provided, single submitter	ClinGen:CA008099
single nucleotide variant	NM_000218.3(KCNQ1):c.805G>C (p.Gly269Arg)	KCNQ1	Pathogenic	11	2594100	2594100	G	C	criteria provided, single submitter	ClinGen:CA008284
single nucleotide variant	NM_000218.3(KCNQ1):c.806G>T (p.Gly269Val)	KCNQ1	Pathogenic	11	2594101	2594101	G	T	criteria provided, single submitter	ClinGen:CA008303
Deletion	NM_000218.3(KCNQ1):c.919_921+9del	KCNQ1	Pathogenic/Likely pathogenic	11	2594212	2594223	GGGGTGGTAAGTC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA305973
single nucleotide variant	NM_000218.3(KCNQ1):c.946G>T (p.Gly316Trp)	KCNQ1	Pathogenic/Likely pathogenic	11	2604689	2604689	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008840
single nucleotide variant	NM_000218.3(KCNQ1):c.961C>T (p.Gln321Ter)	KCNQ1	Pathogenic	11	2604704	2604704	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008923