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_000335.5(SCN5A):c.2023+2T>A	SCN5A	Pathogenic	3	38640407	38640407	A	T	criteria provided, single submitter	ClinGen:CA015749
single nucleotide variant	NM_000335.5(SCN5A):c.1891-1G>A	SCN5A	Pathogenic	3	38640542	38640542	C	T	criteria provided, single submitter	ClinGen:CA015498
Deletion	NM_000335.5(SCN5A):c.1753del (p.His585fs)	SCN5A	Pathogenic	3	38645340	38645340	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015310
Deletion	NM_000335.5(SCN5A):c.1711del (p.Ser571fs)	SCN5A	Pathogenic	3	38645382	38645382	CT	C	criteria provided, single submitter	ClinGen:CA015225
Deletion	NM_000335.5(SCN5A):c.1583_1584del (p.Ser528fs)	SCN5A	Pathogenic	3	38645509	38645510	TGC	T	criteria provided, single submitter	ClinGen:CA015010
single nucleotide variant	NM_000335.5(SCN5A):c.1519-1G>A	SCN5A	Likely pathogenic	3	38645575	38645575	C	T	criteria provided, single submitter	-
Deletion	NM_000335.5(SCN5A):c.1428_1431del (p.Ser476fs)	SCN5A	Pathogenic/Likely pathogenic	3	38646307	38646310	TCTTG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014854
single nucleotide variant	NM_000335.5(SCN5A):c.1167C>A (p.Tyr389Ter)	SCN5A	Pathogenic	3	38647613	38647613	G	T	criteria provided, single submitter	ClinGen:CA014445
single nucleotide variant	NM_000335.5(SCN5A):c.1134T>A (p.Tyr378Ter)	SCN5A	Pathogenic	3	38648166	38648166	A	T	criteria provided, single submitter	ClinGen:CA014398
single nucleotide variant	NM_000335.5(SCN5A):c.1080G>A (p.Trp360Ter)	SCN5A	Pathogenic	3	38648220	38648220	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014295