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.1338+2T>A	SCN5A	Pathogenic/Likely pathogenic	3	38647440	38647440	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014714
single nucleotide variant	NM_000335.5(SCN5A):c.5623G>A (p.Glu1875Lys)	SCN5A	Likely pathogenic	3	38592237	38592237	C	T	criteria provided, single submitter	ClinGen:CA019400
Deletion	NM_000335.5(SCN5A):c.5461_5464del (p.Glu1822fs)	SCN5A	Pathogenic/Likely pathogenic	3	38592396	38592399	TCAGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019255
single nucleotide variant	NM_000335.5(SCN5A):c.5228G>T (p.Ser1743Ile)	SCN5A	Likely pathogenic	3	38592632	38592632	C	A	criteria provided, single submitter	ClinGen:CA019029
single nucleotide variant	NM_000335.5(SCN5A):c.5105G>A (p.Cys1702Tyr)	SCN5A	Likely pathogenic	3	38592755	38592755	C	T	criteria provided, single submitter	ClinGen:CA018879
single nucleotide variant	NM_000335.5(SCN5A):c.5069T>C (p.Met1690Thr)	SCN5A	Likely pathogenic	3	38592791	38592791	A	G	criteria provided, single submitter	ClinGen:CA018868
single nucleotide variant	NM_000335.5(SCN5A):c.5024T>C (p.Met1675Thr)	SCN5A	Likely pathogenic	3	38592836	38592836	A	G	criteria provided, single submitter	ClinGen:CA018860
single nucleotide variant	NM_000335.5(SCN5A):c.5023A>G (p.Met1675Val)	SCN5A	Likely pathogenic	3	38592837	38592837	T	C	criteria provided, single submitter	ClinGen:CA018854
single nucleotide variant	NM_000335.5(SCN5A):c.4948A>G (p.Met1650Val)	SCN5A	Likely pathogenic	3	38592912	38592912	T	C	criteria provided, single submitter	ClinGen:CA018786
single nucleotide variant	NM_000335.5(SCN5A):c.4810G>C (p.Gly1604Arg)	SCN5A	Pathogenic	3	38595770	38595770	C	G	criteria provided, single submitter	ClinGen:CA018582