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_001037.5(SCN1B):c.449-1G>A	SCN1B	Pathogenic	19	35530020	35530020	G	A	criteria provided, single submitter	ClinGen:CA302175
single nucleotide variant	NM_001037.5(SCN1B):c.254G>A (p.Arg85His)	SCN1B	Pathogenic/Likely pathogenic	19	35524449	35524449	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA144661,UniProtKB:Q07699#VAR_070219,OMIM:600235.0006
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_005477.3(HCN4):c.1471G>C (p.Asp491His)	HCN4	Likely pathogenic	15	73622033	73622033	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_005477.3(HCN4):c.2143+1G>A	HCN4	Likely pathogenic	15	73616429	73616429	C	T	criteria provided, single submitter	ClinGen:CA393089784
single nucleotide variant	NM_005477.3(HCN4):c.1439G>T (p.Gly480Val)	HCN4	Likely pathogenic	15	73622065	73622065	C	A	criteria provided, single submitter	ClinGen:CA16614737
single nucleotide variant	NM_005477.3(HCN4):c.1441T>C (p.Tyr481His)	HCN4	Pathogenic/Likely pathogenic	15	73622063	73622063	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043943,OMIM:605206.0009
single nucleotide variant	NM_005477.3(HCN4):c.1444G>C (p.Gly482Arg)	HCN4	Pathogenic	15	73622060	73622060	C	G	criteria provided, single submitter	ClinGen:CA16043942,OMIM:605206.0008
single nucleotide variant	NM_005477.3(HCN4):c.1444G>A (p.Gly482Arg)	HCN4	Pathogenic/Likely pathogenic	15	73622060	73622060	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA202778
Deletion	NC_000012.12:g.(?_32850756)_(32850983_?)del	PKP2	Pathogenic	12	33003690	33003917	na	na	criteria provided, single submitter	-