ブルガダ症候群

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
Deletion	NC_000003.12:g.(?_38613743)_(38622489_?)del	SCN5A	Pathogenic	3	38655234	38663980	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.2636G>A (p.Trp879Ter)	SCN5A	Pathogenic	3	38627333	38627333	C	T	criteria provided, single submitter	ClinGen:CA16611268
single nucleotide variant	NM_000335.5(SCN5A):c.2933G>A (p.Trp978Ter)	SCN5A	Pathogenic	3	38622717	38622717	C	T	criteria provided, single submitter	ClinGen:CA16611275
single nucleotide variant	NM_000335.5(SCN5A):c.2787+1G>T	SCN5A	Likely pathogenic	3	38627181	38627181	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611280
Deletion	NM_000335.5(SCN5A):c.104del (p.Gly35fs)	SCN5A	Pathogenic	3	38674695	38674695	GC	G	criteria provided, single submitter	ClinGen:CA16611295
single nucleotide variant	NM_000335.5(SCN5A):c.5587G>T (p.Glu1863Ter)	SCN5A	Pathogenic	3	38592273	38592273	C	A	criteria provided, single submitter	ClinGen:CA16611370
single nucleotide variant	NM_000335.5(SCN5A):c.5425G>T (p.Glu1809Ter)	SCN5A	Pathogenic	3	38592435	38592435	C	A	criteria provided, single submitter	ClinGen:CA16611373
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.904G>T (p.Glu302Ter)	SCN5A	Pathogenic	3	38651255	38651255	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611395
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