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.784A>C (p.Ser262Arg)	SCN5A	Likely pathogenic	3	38651375	38651375	T	G	criteria provided, single submitter	ClinGen:CA073231
single nucleotide variant	NM_000335.5(SCN5A):c.4891C>T (p.Arg1631Cys)	SCN5A	Pathogenic	3	38592969	38592969	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582189
Indel	NM_000335.5(SCN5A):c.3142_3154delinsTCTGACTGTGT (p.Pro1048fs)	SCN5A	Pathogenic	3	38622496	38622508	CCACAGCGATGGG	ACACAGTCAGA	criteria provided, single submitter	ClinGen:CA10582194
Deletion	NM_000335.5(SCN5A):c.5353_5354del (p.Leu1785fs)	SCN5A	Pathogenic/Likely pathogenic	3	38592506	38592507	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586350
single nucleotide variant	NM_000335.5(SCN5A):c.4716C>T (p.Gly1572=)	SCN5A	Pathogenic/Likely pathogenic	3	38595864	38595864	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA063563
single nucleotide variant	NM_000335.5(SCN5A):c.4882C>T (p.Arg1628Ter)	SCN5A	Pathogenic	3	38592978	38592978	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA063905
Deletion	NM_000335.5(SCN5A):c.4420del (p.Gln1474fs)	SCN5A	Pathogenic	3	38597946	38597946	TG	T	criteria provided, single submitter	ClinGen:CA10587575
Deletion	NM_000335.5(SCN5A):c.5282del (p.Ile1761fs)	SCN5A	Likely pathogenic	3	38592578	38592578	GA	G	criteria provided, single submitter	ClinGen:CA10588359
single nucleotide variant	NM_000335.5(SCN5A):c.467G>A (p.Trp156Ter)	SCN5A	Pathogenic	3	38663906	38663906	C	T	criteria provided, single submitter	ClinGen:CA10602880
single nucleotide variant	NM_000335.5(SCN5A):c.3619G>T (p.Glu1207Ter)	SCN5A	Pathogenic	3	38616832	38616832	C	A	criteria provided, single submitter	ClinGen:CA10602904