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.235C>T (p.Arg79Ter)	PKP2	Pathogenic	12	33031955	33031955	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011947,OMIM:602861.0001
single nucleotide variant	NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter)	PKP2	Pathogenic	12	32955433	32955433	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011795,OMIM:602861.0002
single nucleotide variant	NM_001005242.3(PKP2):c.2014-1G>C	PKP2	Pathogenic	12	32955491	32955491	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA011757,OMIM:602861.0003
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_001037.5(SCN1B):c.363C>G (p.Cys121Trp)	SCN1B	Pathogenic/Likely pathogenic	19	35524558	35524558	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA203839,UniProtKB:Q07699#VAR_010165,OMIM:600235.0001
single nucleotide variant	NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His)	SCN5A	Pathogenic	3	38592932	38592932	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018760,UniProtKB:Q14524#VAR_001579,OMIM:600163.0002
single nucleotide variant	NM_000335.5(SCN5A):c.3971A>G (p.Asn1324Ser)	SCN5A	Pathogenic/Likely pathogenic	3	38601909	38601909	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA017679,OMIM:600163.0003
Deletion	NM_000335.5(SCN5A):c.4187del (p.Lys1396fs)	SCN5A	Pathogenic	3	38601693	38601693	CT	C	criteria provided, single submitter	ClinGen:CA017930,OMIM:600163.0006
single nucleotide variant	NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter)	SCN5A	Pathogenic	3	38592996	38592996	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018662,OMIM:600163.0028
single nucleotide variant	NM_000335.5(SCN5A):c.5381A>G (p.Tyr1794Cys)	SCN5A	Pathogenic	3	38592479	38592479	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA019196,OMIM:600163.0029