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_001005242.3(PKP2):c.1034+1del	PKP2	Likely pathogenic	12	33030779	33030779	AC	A	criteria provided, single submitter	ClinGen:CA658797861
Indel	NM_001005242.3(PKP2):c.968_971delinsGCT (p.Gln323fs)	PKP2	Pathogenic/Likely pathogenic	12	33030843	33030846	GCCT	AGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797864
single nucleotide variant	NM_001005242.3(PKP2):c.1716C>A (p.Tyr572Ter)	PKP2	Pathogenic	12	32975524	32975524	G	T	criteria provided, single submitter	ClinGen:CA384363400
Deletion	NM_000335.5(SCN5A):c.4381del (p.Thr1460_Leu1461insTer)	SCN5A	Pathogenic	3	38597985	38597985	AG	A	criteria provided, single submitter	ClinGen:CA658796277
single nucleotide variant	NM_000335.5(SCN5A):c.3809G>A (p.Trp1270Ter)	SCN5A	Pathogenic	3	38607928	38607928	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA352148956
Deletion	NM_000335.5(SCN5A):c.3259del (p.Ala1087fs)	SCN5A	Pathogenic	3	38620953	38620953	GC	G	criteria provided, single submitter	ClinGen:CA658796280
single nucleotide variant	NM_000335.5(SCN5A):c.2023+1G>A	SCN5A	Likely pathogenic	3	38640408	38640408	C	T	criteria provided, single submitter	ClinGen:CA352144955
single nucleotide variant	NM_000238.4(KCNH2):c.3330+1G>A	KCNH2	Pathogenic	7	150643964	150643964	C	T	criteria provided, single submitter	ClinGen:CA369851864
single nucleotide variant	NM_000238.4(KCNH2):c.3193C>T (p.Gln1065Ter)	KCNH2	Pathogenic	7	150644102	150644102	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA369852293
Deletion	NM_000238.4(KCNH2):c.3090_3102del (p.Arg1032fs)	KCNH2	Pathogenic	7	150644466	150644478	GGGGCCGCCGACCC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658760375