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
Duplication	NC_000003.11:g.(?_38616768)_(38651475_?)dup	SCN5A	Likely pathogenic	3	38616768	38651475	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_38550301)_(38794030_?)del	SCN5A	Pathogenic	3	38591792	38835521	na	na	criteria provided, single submitter	-
Duplication	NC_000007.13:g.(?_150644396)_(150649961_?)dup	KCNH2	Likely pathogenic	7	150644396	150649961	na	na	criteria provided, single submitter	-
Deletion	NM_000238.4(KCNH2):c.470del (p.Pro157fs)	KCNH2	Pathogenic	7	150656662	150656662	TG	T	criteria provided, single submitter	ClinGen:CA658797052
Deletion	NC_000007.13:g.(?_150642433)_(151573725_?)del	KCNH2	Pathogenic	7	150642433	151573725	na	na	criteria provided, single submitter	-
Deletion	NM_000238.4(KCNH2):c.512_536del (p.Leu171fs)	KCNH2	Pathogenic	7	150655527	150655551	CGACGACTCCCGGGCCGTCAGCGCCA	C	criteria provided, single submitter	ClinGen:CA658797051
Duplication	NM_000238.4(KCNH2):c.66dup (p.Glu23Ter)	KCNH2	Pathogenic/Likely pathogenic	7	150674935	150674936	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797054
Duplication	NM_000238.4(KCNH2):c.2657dup (p.Arg887fs)	KCNH2	Pathogenic	7	150645566	150645567	C	CT	criteria provided, single submitter	ClinGen:CA658797038
single nucleotide variant	NM_000238.4(KCNH2):c.1689G>A (p.Trp563Ter)	KCNH2	Pathogenic	7	150648792	150648792	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA369858778
Deletion	NM_001005242.3(PKP2):c.951del (p.His318fs)	PKP2	Pathogenic	12	33030863	33030863	GC	G	criteria provided, single submitter	ClinGen:CA658797865