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.4336T>C (p.Tyr1446His)	SCN5A	Likely pathogenic	3	38598030	38598030	A	G	criteria provided, single submitter	ClinGen:CA16617946
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.3244del (p.Ser1082fs)	SCN5A	Pathogenic/Likely pathogenic	3	38620968	38620968	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617948
Insertion	NM_000335.5(SCN5A):c.2334_2335insTTTCCAA (p.Gln779fs)	SCN5A	Pathogenic	3	38628992	38628993	G	GTTGGAAA	criteria provided, single submitter	ClinGen:CA16617952
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.5187del (p.Thr1730fs)	SCN5A	Likely pathogenic	3	38592673	38592673	TG	T	criteria provided, single submitter	ClinGen:CA645294025
single nucleotide variant	NM_000335.5(SCN5A):c.5080C>T (p.Gln1694Ter)	SCN5A	Likely pathogenic	3	38592780	38592780	G	A	criteria provided, single submitter	ClinGen:CA352142443
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
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.393-2A>G	SCN5A	Likely pathogenic	3	38663982	38663982	T	C	criteria provided, single submitter	ClinGen:CA352154923