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_000238.4(KCNH2):c.1707C>G (p.Tyr569Ter)	KCNH2	Pathogenic	7	150648774	150648774	G	C	criteria provided, single submitter	ClinGen:CA369858716
single nucleotide variant	NM_000238.4(KCNH2):c.162C>A (p.Tyr54Ter)	KCNH2	Likely pathogenic	7	150671944	150671944	G	T	criteria provided, single submitter	ClinGen:CA369865776
single nucleotide variant	NM_001005242.3(PKP2):c.390C>G (p.Tyr130Ter)	PKP2	Pathogenic	12	33031424	33031424	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA384365407
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.3509-1G>C	SCN5A	Likely pathogenic	3	38616943	38616943	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA352138303
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_001005242.3(PKP2):c.1138G>T (p.Glu380Ter)	PKP2	Pathogenic/Likely pathogenic	12	33021893	33021893	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384359128
Deletion	NM_001005242.3(PKP2):c.1708del (p.Leu570fs)	PKP2	Likely pathogenic	12	32975532	32975532	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683782
Deletion	NM_000238.4(KCNH2):c.2482_2491del (p.Cys828fs)	KCNH2	Pathogenic	7	150646045	150646054	TGTAGGTCACA	T	criteria provided, single submitter	ClinGen:CA658797039
Deletion	NM_000238.4(KCNH2):c.1847_1855del (p.Tyr616_Thr618del)	KCNH2	Likely pathogenic	7	150648626	150648634	AAGGTGAAGT	A	criteria provided, single submitter	ClinGen:CA658797029