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.1881del (p.Lys628fs)	PKP2	Pathogenic	12	32974422	32974422	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011637
single nucleotide variant	NM_001005242.3(PKP2):c.1819C>T (p.Arg607Ter)	PKP2	Pathogenic	12	32975421	32975421	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011579
single nucleotide variant	NM_001005242.3(PKP2):c.1723G>T (p.Glu575Ter)	PKP2	Likely pathogenic	12	32975517	32975517	C	A	criteria provided, single submitter	ClinGen:CA011520
single nucleotide variant	NM_001005242.3(PKP2):c.1700T>G (p.Leu567Arg)	PKP2	Likely pathogenic	12	32975540	32975540	A	C	criteria provided, single submitter	ClinGen:CA011478
single nucleotide variant	NM_001005242.3(PKP2):c.1672A>T (p.Lys558Ter)	PKP2	Pathogenic	12	32976981	32976981	T	A	criteria provided, single submitter	ClinGen:CA011445
Deletion	NM_001005242.3(PKP2):c.1671del (p.Asp557fs)	PKP2	Pathogenic	12	32976982	32976982	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011436
Deletion	NM_001005242.3(PKP2):c.1667del (p.Asp556fs)	PKP2	Pathogenic	12	32976986	32976986	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011427
single nucleotide variant	NM_001005242.3(PKP2):c.1635T>G (p.Tyr545Ter)	PKP2	Pathogenic	12	32977018	32977018	A	C	criteria provided, single submitter	ClinGen:CA011402
single nucleotide variant	NM_001005242.3(PKP2):c.1557-1G>C	PKP2	Pathogenic	12	32977097	32977097	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA011321
Deletion	NM_001005242.3(PKP2):c.1532del (p.Phe511fs)	PKP2	Pathogenic	12	32993986	32993986	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA011282