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	NC_000007.14:g.(?_150944956)_(150978314_?)del	KCNH2	Pathogenic	7	150642044	150675402	na	na	criteria provided, single submitter	-
Deletion	NM_000238.4(KCNH2):c.1695del (p.Cys566fs)	KCNH2	Pathogenic	7	150648786	150648786	AG	A	criteria provided, single submitter	ClinGen:CA16612192
Deletion	NM_000238.4(KCNH2):c.402del (p.Lys135fs)	KCNH2	Pathogenic	7	150656730	150656730	TC	T	criteria provided, single submitter	ClinGen:CA16612199
Duplication	NM_000238.4(KCNH2):c.3099_3109dup (p.Asp1037fs)	KCNH2	Pathogenic	7	150644458	150644459	T	TCGCCCCGGGGC	criteria provided, single submitter	ClinGen:CA16612298
Duplication	NM_000238.4(KCNH2):c.2000dup (p.Tyr667Ter)	KCNH2	Pathogenic	7	150648153	150648154	G	GT	criteria provided, single submitter	ClinGen:CA16612307
Deletion	NM_000238.4(KCNH2):c.3255del (p.Pro1086fs)	KCNH2	Likely pathogenic	7	150644040	150644040	GC	G	criteria provided, single submitter	ClinGen:CA16618396
Deletion	NM_000238.4(KCNH2):c.3099_3112del (p.Pro1034fs)	KCNH2	Pathogenic/Likely pathogenic	7	150644456	150644469	ACGTCGCCCCGGGGC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618397
Duplication	NM_000238.4(KCNH2):c.3060dup (p.Ser1021fs)	KCNH2	Likely pathogenic	7	150644507	150644508	T	TG	criteria provided, single submitter	ClinGen:CA16618398
Duplication	NM_000238.4(KCNH2):c.2952dup (p.Asn985fs)	KCNH2	Pathogenic	7	150644706	150644707	T	TG	criteria provided, single submitter	ClinGen:CA16618399
Deletion	NM_000238.4(KCNH2):c.2892del (p.Gly965fs)	KCNH2	Pathogenic	7	150644767	150644767	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618400