ブルガダ症候群

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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.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.435C>A (p.Cys145Ter)	SCN5A	Pathogenic	3	38663938	38663938	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.4309C>T (p.Pro1437Ser)	SCN5A	Likely pathogenic	3	38598057	38598057	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.748C>G (p.Leu250Val)	SCN5A	Likely pathogenic	3	38651411	38651411	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.5276T>G (p.Phe1759Cys)	SCN5A	Pathogenic	3	38592584	38592584	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.5383G>T (p.Glu1795Ter)	SCN5A	Pathogenic	3	38592477	38592477	C	A	criteria provided, single submitter	-
Deletion	NM_000335.5(SCN5A):c.4654del (p.Ser1552fs)	SCN5A	Pathogenic	3	38595926	38595926	CT	C	criteria provided, single submitter	-
Deletion	NM_000335.5(SCN5A):c.5381_5382del (p.Phe1793_Tyr1794insTer)	SCN5A	Pathogenic	3	38592478	38592479	CAT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.5596G>T (p.Glu1866Ter)	SCN5A	Likely pathogenic	3	38592264	38592264	C	A	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_38585671)_(38604928_?)del	SCN5A	Likely pathogenic	3	38627162	38646419	na	na	criteria provided, single submitter	-