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_000238.4(KCNH2):c.2766del (p.Pro923fs)	KCNH2	Pathogenic/Likely pathogenic	7	150644893	150644893	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683501
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_001005242.3(PKP2):c.1252del (p.Ala418fs)	PKP2	Pathogenic/Likely pathogenic	12	33003826	33003826	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658129
Duplication	NM_001005242.3(PKP2):c.190dup (p.Leu64fs)	PKP2	Pathogenic/Likely pathogenic	12	33049475	33049476	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA6508312
Deletion	NM_001005242.3(PKP2):c.198del (p.Lys67fs)	PKP2	Pathogenic/Likely pathogenic	12	33049468	33049468	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658133
Deletion	NM_000335.5(SCN5A):c.5458_5459del (p.Leu1820fs)	SCN5A	Pathogenic/Likely pathogenic	3	38592401	38592402	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655809
single nucleotide variant	NM_000238.4(KCNH2):c.1557+1G>C	KCNH2	Pathogenic/Likely pathogenic	7	150649512	150649512	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA369859377
Deletion	NM_000335.5(SCN5A):c.3992_3996del (p.Pro1331fs)	SCN5A	Pathogenic/Likely pathogenic	3	38601884	38601888	TGGACG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372736
single nucleotide variant	NM_000335.5(SCN5A):c.4144C>T (p.Gln1382Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38601736	38601736	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA352146716