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_001005242.3(PKP2):c.1034+1G>C	PKP2	Likely pathogenic	12	33030779	33030779	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA384361546
Indel	NM_000238.4(KCNH2):c.3088_3089delinsGGGTCTCCCG (p.Pro1030fs)	KCNH2	Pathogenic	7	150644479	150644480	GG	CGGGAGACCC	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.4468C>T (p.Gln1490Ter)	SCN5A	Pathogenic	3	38597218	38597218	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000238.4(KCNH2):c.2398+2T>A	KCNH2	Pathogenic	7	150647254	150647254	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000238.4(KCNH2):c.1848C>G (p.Tyr616Ter)	KCNH2	Pathogenic	7	150648633	150648633	G	C	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_38585671)_(38604928_?)del	SCN5A	Likely pathogenic	3	38627162	38646419	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.5596G>T (p.Glu1866Ter)	SCN5A	Likely pathogenic	3	38592264	38592264	C	A	criteria provided, single submitter	-
Deletion	NM_000335.5(SCN5A):c.5381_5382del (p.Phe1793_Tyr1794insTer)	SCN5A	Pathogenic	3	38592478	38592479	CAT	C	criteria provided, single submitter	-
Deletion	NM_000335.5(SCN5A):c.4654del (p.Ser1552fs)	SCN5A	Pathogenic	3	38595926	38595926	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.5383G>T (p.Glu1795Ter)	SCN5A	Pathogenic	3	38592477	38592477	C	A	criteria provided, single submitter	-