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.37A>T (p.Lys13Ter)	KCNQ1	Pathogenic	11	2466365	2466365	A	T	criteria provided, single submitter	ClinGen:CA006918
Deletion	NM_000218.3(KCNQ1):c.20del (p.Pro7fs)	KCNQ1	Likely pathogenic	11	2466345	2466345	TC	T	criteria provided, single submitter	ClinGen:CA658797570
single nucleotide variant	NM_000218.3(KCNQ1):c.5C>G (p.Ala2Gly)	KCNQ1	Likely pathogenic	11	2466333	2466333	C	G	criteria provided, single submitter	ClinGen:CA379115683
single nucleotide variant	NM_000218.3(KCNQ1):c.2T>A (p.Met1Lys)	KCNQ1	Pathogenic	11	2466330	2466330	T	A	criteria provided, single submitter	ClinGen:CA379115663
single nucleotide variant	NM_000218.3(KCNQ1):c.1A>T (p.Met1Leu)	KCNQ1	Pathogenic	11	2466329	2466329	A	T	criteria provided, single submitter	ClinGen:CA350383