先天性QT延長症候群

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.1135C>T (p.Gln379Ter)	SCN5A	Pathogenic	3	38648165	38648165	G	A	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_37452365)_(38950372_?)del	SCN5A	Pathogenic	3	37493856	38991863	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_38609714)_(38609984_?)del	SCN5A	Likely pathogenic	3	38651205	38651475	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.4243-2A>G	SCN5A	Likely pathogenic	3	38598777	38598777	T	C	criteria provided, single submitter	-
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	-