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_001005242.3(PKP2):c.837_838del (p.Val280fs)	PKP2	Pathogenic	12	33030976	33030977	ACG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012527
single nucleotide variant	NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter)	PKP2	Pathogenic	12	33031151	33031151	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012429
Deletion	NM_001005242.3(PKP2):c.623del (p.Thr208fs)	PKP2	Pathogenic	12	33031191	33031191	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012419
Duplication	NM_001005242.3(PKP2):c.533dup (p.His179fs)	PKP2	Pathogenic/Likely pathogenic	12	33031280	33031281	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA308755
single nucleotide variant	NM_001005242.3(PKP2):c.397C>T (p.Gln133Ter)	PKP2	Pathogenic	12	33031417	33031417	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012301
single nucleotide variant	NM_001005242.3(PKP2):c.369G>A (p.Trp123Ter)	PKP2	Pathogenic	12	33031445	33031445	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012284
Deletion	NM_001005242.3(PKP2):c.314del (p.Pro105fs)	PKP2	Pathogenic	12	33031876	33031876	AG	A	criteria provided, single submitter	ClinGen:CA012256
single nucleotide variant	NM_001005242.3(PKP2):c.275T>A (p.Leu92Ter)	PKP2	Pathogenic	12	33031915	33031915	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012238
Duplication	NM_001005242.3(PKP2):c.256dup (p.Tyr86fs)	PKP2	Pathogenic	12	33031933	33031934	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA308754
Deletion	NM_001005242.3(PKP2):c.240del (p.Ser81fs)	PKP2	Pathogenic	12	33031950	33031950	TG	T	criteria provided, single submitter	ClinGen:CA012005