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
Deletion	NM_000335.5(SCN5A):c.4381del (p.Thr1460_Leu1461insTer)	SCN5A	Pathogenic	3	38597985	38597985	AG	A	criteria provided, single submitter	ClinGen:CA658796277
single nucleotide variant	NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter)	SCN5A	Pathogenic	3	38645490	38645490	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA352147237
single nucleotide variant	NM_000335.5(SCN5A):c.704-2A>G	SCN5A	Likely pathogenic	3	38651457	38651457	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA352151086
single nucleotide variant	NM_000335.5(SCN5A):c.2466G>A (p.Trp822Ter)	SCN5A	Pathogenic	3	38627503	38627503	C	T	criteria provided, single submitter	ClinGen:CA352142670
single nucleotide variant	NM_000335.5(SCN5A):c.3509-1G>C	SCN5A	Likely pathogenic	3	38616943	38616943	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA352138303
single nucleotide variant	NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38603923	38603923	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA352148091
single nucleotide variant	NM_000335.5(SCN5A):c.3837+1G>A	SCN5A	Pathogenic/Likely pathogenic	3	38607899	38607899	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA352148837
Deletion	NM_000335.5(SCN5A):c.3873del (p.Phe1292fs)	SCN5A	Pathogenic	3	38603993	38603993	AG	A	criteria provided, single submitter	ClinGen:CA658657283
single nucleotide variant	NM_000335.5(SCN5A):c.1141-1G>A	SCN5A	Likely pathogenic	3	38647640	38647640	C	T	criteria provided, single submitter	ClinGen:CA352149157
single nucleotide variant	NM_000335.5(SCN5A):c.204T>A (p.Tyr68Ter)	SCN5A	Pathogenic	3	38674595	38674595	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA352158175