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
Deletion	NM_000238.4(KCNH2):c.2053del (p.Arg685fs)	KCNH2	Pathogenic	7	150648101	150648101	CG	C	criteria provided, single submitter	ClinGen:CA006175
single nucleotide variant	NM_000238.4(KCNH2):c.2026C>T (p.Gln676Ter)	KCNH2	Pathogenic	7	150648128	150648128	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006157
single nucleotide variant	NM_000238.4(KCNH2):c.1956T>A (p.Tyr652Ter)	KCNH2	Pathogenic	7	150648198	150648198	A	T	criteria provided, single submitter	ClinGen:CA006093
single nucleotide variant	NM_000238.4(KCNH2):c.1946-1G>A	KCNH2	Pathogenic/Likely pathogenic	7	150648209	150648209	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006081
single nucleotide variant	NM_000238.4(KCNH2):c.1946-2A>C	KCNH2	Pathogenic	7	150648210	150648210	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA006083
single nucleotide variant	NM_000238.4(KCNH2):c.1945+6T>C	KCNH2	Pathogenic	7	150648530	150648530	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA006073
single nucleotide variant	NM_000238.4(KCNH2):c.1945+1G>A	KCNH2	Likely pathogenic	7	150648535	150648535	C	T	criteria provided, single submitter	ClinGen:CA006070
single nucleotide variant	NM_000238.4(KCNH2):c.1913A>G (p.Lys638Arg)	KCNH2	Pathogenic	7	150648568	150648568	T	C	criteria provided, single submitter	ClinGen:CA005990
single nucleotide variant	NM_000238.4(KCNH2):c.1900A>G (p.Thr634Ala)	KCNH2	Pathogenic/Likely pathogenic	7	150648581	150648581	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA005914
single nucleotide variant	NM_000238.4(KCNH2):c.1882G>C (p.Gly628Arg)	KCNH2	Likely pathogenic	7	150648599	150648599	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA005813