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.1846C>T (p.Gln616Ter)	PKP2	Pathogenic	12	32974457	32974457	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_005477.3(HCN4):c.1471G>C (p.Asp491His)	HCN4	Likely pathogenic	15	73622033	73622033	C	G	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_37452365)_(38950372_?)del	SCN5A	Pathogenic	3	37493856	38991863	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_38609714)_(38609984_?)del	SCN5A	Likely pathogenic	3	38651205	38651475	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_150959562)_(150959746_?)del	KCNH2	Pathogenic	7	150656650	150656834	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001005242.3(PKP2):c.1379-1976G>A	PKP2	Likely pathogenic	12	32996115	32996115	C	T	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_32850756)_(32850983_?)del	PKP2	Pathogenic	12	33003690	33003917	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.4243-2A>G	SCN5A	Likely pathogenic	3	38598777	38598777	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38662410	38662410	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000238.4(KCNH2):c.1983del (p.Ile662fs)	KCNH2	Pathogenic/Likely pathogenic	7	150648171	150648171	TG	T	criteria provided, multiple submitters, no conflicts	-