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	NM_000238.4(KCNH2):c.234_241del (p.Ala79fs)	KCNH2	Pathogenic	7	150671865	150671872	TGCGCGGCA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587645
Deletion	NM_000335.5(SCN5A):c.5282del (p.Ile1761fs)	SCN5A	Likely pathogenic	3	38592578	38592578	GA	G	criteria provided, single submitter	ClinGen:CA10588359
single nucleotide variant	NM_000238.4(KCNH2):c.2145+1G>A	KCNH2	Pathogenic/Likely pathogenic	7	150648008	150648008	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588421
single nucleotide variant	NM_001005242.3(PKP2):c.1379-1G>A	PKP2	Pathogenic	12	32994140	32994140	C	T	criteria provided, single submitter	ClinGen:CA10588547
single nucleotide variant	NM_001005242.3(PKP2):c.1292T>A (p.Leu431Ter)	PKP2	Likely pathogenic	12	33003786	33003786	A	T	criteria provided, single submitter	ClinGen:CA10588548
single nucleotide variant	NM_000238.4(KCNH2):c.1238T>G (p.Leu413Arg)	KCNH2	Likely pathogenic	7	150649832	150649832	A	C	criteria provided, single submitter	ClinGen:CA10602712
single nucleotide variant	NM_000335.5(SCN5A):c.467G>A (p.Trp156Ter)	SCN5A	Pathogenic	3	38663906	38663906	C	T	criteria provided, single submitter	ClinGen:CA10602880
single nucleotide variant	NM_000335.5(SCN5A):c.3619G>T (p.Glu1207Ter)	SCN5A	Pathogenic	3	38616832	38616832	C	A	criteria provided, single submitter	ClinGen:CA10602904
single nucleotide variant	NM_001005242.3(PKP2):c.658C>T (p.Gln220Ter)	PKP2	Pathogenic	12	33031156	33031156	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603252
single nucleotide variant	NM_001378969.1(KCND3):c.1195G>C (p.Val399Leu)	KCND3	Likely pathogenic	1	112329640	112329640	C	G	criteria provided, single submitter	ClinGen:CA16042284