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.535C>T (p.Arg179Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38662410	38662410	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000335.5(SCN5A):c.3570G>A (p.Trp1190Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38616881	38616881	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000335.5(SCN5A):c.3681C>G (p.Tyr1227Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38608056	38608056	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000335.5(SCN5A):c.4909C>T (p.Arg1637Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38592951	38592951	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA063937
Deletion	NM_000335.5(SCN5A):c.1613del (p.Gly538fs)	SCN5A	Pathogenic/Likely pathogenic	3	38645480	38645480	AC	A	criteria provided, single submitter	ClinGen:CA658796278
single nucleotide variant	NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38603923	38603923	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA352148091
single nucleotide variant	NM_000335.5(SCN5A):c.3837+1G>A	SCN5A	Pathogenic/Likely pathogenic	3	38607899	38607899	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA352148837
Deletion	NM_000335.5(SCN5A):c.5458_5459del (p.Leu1820fs)	SCN5A	Pathogenic/Likely pathogenic	3	38592401	38592402	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655809
Deletion	NM_000335.5(SCN5A):c.3992_3996del (p.Pro1331fs)	SCN5A	Pathogenic/Likely pathogenic	3	38601884	38601888	TGGACG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372736
single nucleotide variant	NM_000335.5(SCN5A):c.4144C>T (p.Gln1382Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38601736	38601736	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA352146716