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.1628del (p.Val543fs)	PKP2	Pathogenic/Likely pathogenic	12	32977025	32977025	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA011392
Duplication	NM_001005242.3(PKP2):c.1689dup (p.Val564fs)	PKP2	Pathogenic/Likely pathogenic	12	32975550	32975551	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA011453
single nucleotide variant	NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter)	PKP2	Pathogenic	12	32975460	32975460	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011554
Duplication	NM_001005242.3(PKP2):c.1820_1823dup (p.Ser608fs)	PKP2	Pathogenic	12	32975416	32975417	G	GCTTC	criteria provided, multiple submitters, no conflicts	ClinGen:CA261697
single nucleotide variant	NM_001005242.3(PKP2):c.1867G>T (p.Glu623Ter)	PKP2	Pathogenic	12	32974436	32974436	C	A	criteria provided, single submitter	ClinGen:CA011616
single nucleotide variant	NM_001005242.3(PKP2):c.1987C>T (p.Gln663Ter)	PKP2	Likely pathogenic	12	32974316	32974316	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011724
Indel	NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs)	PKP2	Pathogenic	12	32955434	32955439	GGTGTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA011777
Indel	NM_001005242.3(PKP2):c.2202_2206delinsCAGT (p.Pro735fs)	PKP2	Pathogenic/Likely pathogenic	12	32949194	32949198	CAGGA	ACTG	criteria provided, multiple submitters, no conflicts	ClinGen:CA011929
single nucleotide variant	NM_001005242.3(PKP2):c.2357+1G>T	PKP2	Pathogenic/Likely pathogenic	12	32949042	32949042	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012097
Indel	NM_001005242.3(PKP2):c.951_983delinsAC (p.His318fs)	PKP2	Likely pathogenic	12	33030831	33030863	CCCCCTGCGGCCGCCTGGCCGACAGTCAAGTGC	GT	criteria provided, single submitter	ClinGen:CA012570