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
single nucleotide variant	NM_001005242.3(PKP2):c.2399T>C (p.Leu800Pro)	PKP2	Likely pathogenic	12	32945624	32945624	A	G	criteria provided, single submitter	ClinGen:CA012137
single nucleotide variant	NM_001005242.3(PKP2):c.2390C>T (p.Ser797Phe)	PKP2	Likely pathogenic	12	32945633	32945633	G	A	criteria provided, single submitter	ClinGen:CA012120
Deletion	NM_001005242.3(PKP2):c.2377del (p.Ser793fs)	PKP2	Pathogenic/Likely pathogenic	12	32945646	32945646	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA012110
single nucleotide variant	NM_001005242.3(PKP2):c.2357+4A>C	PKP2	Pathogenic	12	32949039	32949039	T	G	criteria provided, single submitter	ClinGen:CA16619514
single nucleotide variant	NM_001005242.3(PKP2):c.2357+1G>A	PKP2	Pathogenic	12	32949042	32949042	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012089,OMIM:602861.0004
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.2311_2316delinsGAAA (p.Asn771fs)	PKP2	Likely pathogenic	12	32949084	32949089	GGTGTT	TTTC	criteria provided, single submitter	ClinGen:CA012023
single nucleotide variant	NM_001005242.3(PKP2):c.2254T>C (p.Cys752Arg)	PKP2	Pathogenic	12	32949146	32949146	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA011986,UniProtKB:Q99959#VAR_021151
Deletion	NM_001005242.3(PKP2):c.2253del (p.Cys752fs)	PKP2	Pathogenic	12	32949147	32949147	AG	A	criteria provided, single submitter	ClinGen:CA011978
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