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.1921C>T (p.Gln641Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38640511	38640511	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617953
Deletion	NM_000335.5(SCN5A):c.3244del (p.Ser1082fs)	SCN5A	Pathogenic/Likely pathogenic	3	38620968	38620968	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617948
Deletion	NM_000335.5(SCN5A):c.4191del (p.Val1399fs)	SCN5A	Pathogenic/Likely pathogenic	3	38601689	38601689	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617947
Deletion	NM_000335.5(SCN5A):c.3010_3022del (p.Cys1004fs)	SCN5A	Pathogenic/Likely pathogenic	3	38622628	38622640	GGGGTGGCAATGCA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611470
Deletion	NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs)	SCN5A	Pathogenic/Likely pathogenic	3	38592443	38592446	CTGAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611455
single nucleotide variant	NM_000335.5(SCN5A):c.3282G>A (p.Trp1094Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38620930	38620930	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611385
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
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.3349C>T (p.Gln1117Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38620863	38620863	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA352047
single nucleotide variant	NM_000335.5(SCN5A):c.483-1G>A	SCN5A	Pathogenic/Likely pathogenic	3	38662463	38662463	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018624