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_000238.4(KCNH2):c.77-1G>A	KCNH2	Likely pathogenic	7	150672030	150672030	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008799
single nucleotide variant	NM_000238.4(KCNH2):c.76+2T>G	KCNH2	Pathogenic	7	150674924	150674924	A	C	criteria provided, single submitter	ClinGen:CA008788
Duplication	NM_000238.4(KCNH2):c.66dup (p.Glu23Ter)	KCNH2	Pathogenic/Likely pathogenic	7	150674935	150674936	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797054
Deletion	NM_000238.4(KCNH2):c.46del (p.Asp16fs)	KCNH2	Pathogenic	7	150674956	150674956	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000238.4(KCNH2):c.31C>T (p.Gln11Ter)	KCNH2	Pathogenic	7	150674971	150674971	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008102