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
Deletion	NC_000007.13:g.(?_150642433)_(151573725_?)del	KCNH2	Pathogenic	7	150642433	151573725	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_150944956)_(150978314_?)del	KCNH2	Pathogenic	7	150642044	150675402	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_150974691)_(150977933_?)del	KCNH2	Pathogenic	7	150671779	150675021	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000238.4(KCNH2):c.31C>T (p.Gln11Ter)	KCNH2	Pathogenic	7	150674971	150674971	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008102
Deletion	NM_000238.4(KCNH2):c.46del (p.Asp16fs)	KCNH2	Pathogenic	7	150674956	150674956	TC	T	criteria provided, single submitter	-
Duplication	NM_000238.4(KCNH2):c.66dup (p.Glu23Ter)	KCNH2	Pathogenic/Likely pathogenic	7	150674935	150674936	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797054
single nucleotide variant	NM_000238.4(KCNH2):c.76+2T>G	KCNH2	Pathogenic	7	150674924	150674924	A	C	criteria provided, single submitter	ClinGen:CA008788
single nucleotide variant	NM_000238.4(KCNH2):c.77-1G>A	KCNH2	Likely pathogenic	7	150672030	150672030	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008799
Duplication	NM_000238.4(KCNH2):c.81dup (p.Lys28Ter)	KCNH2	Pathogenic	7	150672024	150672025	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA305341
Deletion	NM_000238.4(KCNH2):c.84del (p.Lys28fs)	KCNH2	Pathogenic	7	150672022	150672022	AC	A	criteria provided, single submitter	-