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.2062C>T (p.Gln688Ter)	KCNH2	Pathogenic	7	150648092	150648092	G	A	criteria provided, single submitter	ClinGen:CA369857554
Duplication	NM_000238.4(KCNH2):c.3092_3096dup (p.Arg1033fs)	KCNH2	Pathogenic	7	150644471	150644472	G	GCCGAC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656013
Deletion	NM_000238.4(KCNH2):c.2180_2317del (p.Asp727_Ala772del)	KCNH2	Likely pathogenic	7	150647337	150647474	CCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGT	C	criteria provided, single submitter	ClinGen:CA658656021
Duplication	NM_000238.4(KCNH2):c.2218dup (p.Cys740fs)	KCNH2	Pathogenic	7	150647435	150647436	C	CA	criteria provided, single submitter	ClinGen:CA658656023
single nucleotide variant	NM_000238.4(KCNH2):c.2626G>T (p.Glu876Ter)	KCNH2	Pathogenic	7	150645598	150645598	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA369853830
single nucleotide variant	NM_000238.4(KCNH2):c.1707C>G (p.Tyr569Ter)	KCNH2	Pathogenic	7	150648774	150648774	G	C	criteria provided, single submitter	ClinGen:CA369858716
single nucleotide variant	NM_000238.4(KCNH2):c.162C>A (p.Tyr54Ter)	KCNH2	Likely pathogenic	7	150671944	150671944	G	T	criteria provided, single submitter	ClinGen:CA369865776
Deletion	NM_000238.4(KCNH2):c.2766del (p.Pro923fs)	KCNH2	Pathogenic/Likely pathogenic	7	150644893	150644893	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683501
Deletion	NM_000238.4(KCNH2):c.2482_2491del (p.Cys828fs)	KCNH2	Pathogenic	7	150646045	150646054	TGTAGGTCACA	T	criteria provided, single submitter	ClinGen:CA658797039
Deletion	NM_000238.4(KCNH2):c.1847_1855del (p.Tyr616_Thr618del)	KCNH2	Likely pathogenic	7	150648626	150648634	AAGGTGAAGT	A	criteria provided, single submitter	ClinGen:CA658797029