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.1689G>C (p.Trp563Cys)	KCNH2	Likely pathogenic	7	150648792	150648792	C	G	criteria provided, single submitter	ClinGen:CA005080
single nucleotide variant	NM_000238.4(KCNH2):c.1684C>T (p.His562Tyr)	KCNH2	Pathogenic/Likely pathogenic	7	150648797	150648797	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005051
Deletion	NM_000238.4(KCNH2):c.1676del (p.Leu559fs)	KCNH2	Pathogenic	7	150648805	150648805	GA	G	criteria provided, single submitter	ClinGen:CA004990
single nucleotide variant	NM_000238.4(KCNH2):c.1610G>A (p.Arg537Gln)	KCNH2	Likely pathogenic	7	150648871	150648871	C	T	criteria provided, single submitter	ClinGen:CA004945
Deletion	NM_000238.3(KCNH2):c.1498_1524del27 (p.Ile500_Phe508del)	KCNH2	Pathogenic	7	150649546	150649572	CGAAGGGGATGGCGGCCACCATGTCGAT	C	criteria provided, single submitter	ClinGen:CA004721,OMIM:152427.0006
Deletion	NM_000238.4(KCNH2):c.1423_1425del (p.Tyr475del)	KCNH2	Likely pathogenic	7	150649645	150649647	CGTA	C	criteria provided, single submitter	ClinGen:CA004616
single nucleotide variant	NM_000238.4(KCNH2):c.1415G>C (p.Arg472Pro)	KCNH2	Likely pathogenic	7	150649655	150649655	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA004589
single nucleotide variant	NM_000238.4(KCNH2):c.1330G>T (p.Glu444Ter)	KCNH2	Pathogenic	7	150649740	150649740	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004486
Duplication	NM_000238.4(KCNH2):c.1319dup (p.Pro441fs)	KCNH2	Pathogenic	7	150649750	150649751	C	CG	criteria provided, single submitter	ClinGen:CA305307
Deletion	NM_000238.4(KCNH2):c.1316del (p.Gly439fs)	KCNH2	Pathogenic	7	150649754	150649754	GC	G	criteria provided, single submitter	ClinGen:CA004447