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_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.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_001378969.1(KCND3):c.1111G>A (p.Gly371Arg)	KCND3	Pathogenic/Likely pathogenic	1	112329724	112329724	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603398
single nucleotide variant	NM_000335.5(SCN5A):c.4414T>C (p.Phe1472Leu)	SCN5A	Likely pathogenic	3	38597952	38597952	A	G	criteria provided, single submitter	ClinGen:CA16604466
single nucleotide variant	NM_000335.5(SCN5A):c.4910G>C (p.Arg1637Pro)	SCN5A	Likely pathogenic	3	38592950	38592950	C	G	criteria provided, single submitter	ClinGen:CA16604565
single nucleotide variant	NM_000335.5(SCN5A):c.273+1G>A	SCN5A	Likely pathogenic	3	38674525	38674525	C	T	criteria provided, single submitter	ClinGen:CA16604928
single nucleotide variant	NM_000238.4(KCNH2):c.3027C>G (p.Tyr1009Ter)	KCNH2	Pathogenic	7	150644541	150644541	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16605072
single nucleotide variant	NM_000238.4(KCNH2):c.1715G>C (p.Gly572Ala)	KCNH2	Likely pathogenic	7	150648766	150648766	C	G	criteria provided, single submitter	ClinGen:CA16605077
single nucleotide variant	NM_000238.4(KCNH2):c.1929C>A (p.Cys643Ter)	KCNH2	Pathogenic	7	150648552	150648552	G	T	criteria provided, single submitter	ClinGen:CA16605164
single nucleotide variant	NM_000238.4(KCNH2):c.1851C>A (p.Phe617Leu)	KCNH2	Likely pathogenic	7	150648630	150648630	G	T	criteria provided, single submitter	ClinGen:CA16605169