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_000238.4(KCNH2):c.1686C>G (p.His562Gln)	KCNH2	Likely pathogenic	7	150648795	150648795	G	C	criteria provided, single submitter	ClinGen:CA16605170
single nucleotide variant	NM_000238.4(KCNH2):c.308-2A>G	KCNH2	Likely pathogenic	7	150656826	150656826	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16605176
single nucleotide variant	NM_000238.4(KCNH2):c.2692+5G>T	KCNH2	Likely pathogenic	7	150645527	150645527	C	A	criteria provided, single submitter	ClinGen:CA16605725
single nucleotide variant	NM_001005242.3(PKP2):c.1147C>T (p.Gln383Ter)	PKP2	Pathogenic	12	33021884	33021884	G	A	criteria provided, single submitter	ClinGen:CA16606262
single nucleotide variant	NM_001005242.3(PKP2):c.1555A>T (p.Arg519Ter)	PKP2	Pathogenic	12	32993963	32993963	T	A	criteria provided, single submitter	ClinGen:CA16606521
single nucleotide variant	NM_001005242.3(PKP2):c.2013+1G>C	PKP2	Likely pathogenic	12	32974289	32974289	C	G	criteria provided, single submitter	ClinGen:CA16606597
single nucleotide variant	NM_000335.5(SCN5A):c.6045G>A (p.Val2015=)	SCN5A	Pathogenic	3	38591815	38591815	C	T	criteria provided, single submitter	ClinGen:CA16609848
Deletion	NM_000335.5(SCN5A):c.2184_2186del (p.Leu729del)	SCN5A	Pathogenic	3	38639296	38639298	GAGT	G	criteria provided, single submitter	ClinGen:CA16609849
Deletion	NC_000003.12:g.(?_38633035)_(38633359_?)del	SCN5A	Pathogenic	3	38674526	38674850	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_38548062)_(38551558_?)del	SCN5A	Likely pathogenic	3	38589553	38593049	na	na	criteria provided, single submitter	-