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
Duplication	NM_000238.4(KCNH2):c.2218dup (p.Cys740fs)	KCNH2	Pathogenic	7	150647435	150647436	C	CA	criteria provided, single submitter	ClinGen:CA658656023
Deletion	NC_000012.11:g.(?_32945338)_(32977116_?)del	PKP2	Pathogenic	12	32945338	32977116	na	na	criteria provided, single submitter	-
Deletion	NC_000012.11:g.(?_33003694)_(33003913_?)del	PKP2	Pathogenic	12	33003694	33003913	na	na	criteria provided, single submitter	-
Deletion	NM_001005242.3(PKP2):c.2422del (p.Glu808fs)	PKP2	Pathogenic	12	32945601	32945601	TC	T	criteria provided, single submitter	ClinGen:CA604480594
Deletion	NM_001005242.3(PKP2):c.68del (p.Gly23fs)	PKP2	Pathogenic	12	33049598	33049598	TC	T	criteria provided, single submitter	ClinGen:CA658658134
Deletion	NM_001005242.3(PKP2):c.1252del (p.Ala418fs)	PKP2	Pathogenic/Likely pathogenic	12	33003826	33003826	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658129
single nucleotide variant	NM_001005242.3(PKP2):c.775G>T (p.Glu259Ter)	PKP2	Pathogenic	12	33031039	33031039	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384362581
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_000335.5(SCN5A):c.3837+1G>A	SCN5A	Pathogenic/Likely pathogenic	3	38607899	38607899	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA352148837
single nucleotide variant	NM_000238.4(KCNH2):c.2626G>T (p.Glu876Ter)	KCNH2	Pathogenic	7	150645598	150645598	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA369853830