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	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
Deletion	NM_001005242.3(PKP2):c.986_992del (p.Ser329fs)	PKP2	Pathogenic/Likely pathogenic	12	33030822	33030828	ATTCCCAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797862
Duplication	NM_000238.4(KCNH2):c.544_551dup (p.Ala185fs)	KCNH2	Pathogenic/Likely pathogenic	7	150655511	150655512	G	GCCGCCCGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797049
single nucleotide variant	NM_000335.5(SCN5A):c.4909C>T (p.Arg1637Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38592951	38592951	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA063937
Deletion	NM_000335.5(SCN5A):c.1613del (p.Gly538fs)	SCN5A	Pathogenic/Likely pathogenic	3	38645480	38645480	AC	A	criteria provided, single submitter	ClinGen:CA658796278
single nucleotide variant	NM_001005242.3(PKP2):c.1379-2A>T	PKP2	Pathogenic/Likely pathogenic	12	32994141	32994141	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384368196
Duplication	NM_000238.4(KCNH2):c.3090_3093dup (p.Arg1032fs)	KCNH2	Pathogenic/Likely pathogenic	7	150644474	150644475	G	GACCC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797031
Indel	NM_001005242.3(PKP2):c.968_971delinsGCT (p.Gln323fs)	PKP2	Pathogenic/Likely pathogenic	12	33030843	33030846	GCCT	AGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797864
Duplication	NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs)	PKP2	Pathogenic/Likely pathogenic	12	32993972	32993973	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797869
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