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_000335.5(SCN5A):c.4891C>T (p.Arg1631Cys)	SCN5A	Pathogenic	3	38592969	38592969	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582189
Indel	NM_000335.5(SCN5A):c.3142_3154delinsTCTGACTGTGT (p.Pro1048fs)	SCN5A	Pathogenic	3	38622496	38622508	CCACAGCGATGGG	ACACAGTCAGA	criteria provided, single submitter	ClinGen:CA10582194
single nucleotide variant	NM_000238.4(KCNH2):c.1479C>A (p.Tyr493Ter)	KCNH2	Pathogenic	7	150649591	150649591	G	T	criteria provided, single submitter	ClinGen:CA10582467
Indel	NM_001005242.3(PKP2):c.2066_2071delinsG (p.His689fs)	PKP2	Pathogenic	12	32955433	32955438	GGGTGT	C	criteria provided, single submitter	ClinGen:CA10583044
Deletion	NM_004572.3(PKP2):c.2146-?_2489+?del	PKP2	Pathogenic	12	32949043	32955490	na	na	criteria provided, single submitter	-
Deletion	NM_000335.5(SCN5A):c.5353_5354del (p.Leu1785fs)	SCN5A	Pathogenic/Likely pathogenic	3	38592506	38592507	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586350
single nucleotide variant	NM_000335.5(SCN5A):c.4716C>T (p.Gly1572=)	SCN5A	Pathogenic/Likely pathogenic	3	38595864	38595864	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA063563
single nucleotide variant	NM_000335.5(SCN5A):c.4882C>T (p.Arg1628Ter)	SCN5A	Pathogenic	3	38592978	38592978	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA063905
Deletion	NM_000335.5(SCN5A):c.4420del (p.Gln1474fs)	SCN5A	Pathogenic	3	38597946	38597946	TG	T	criteria provided, single submitter	ClinGen:CA10587575
single nucleotide variant	NM_000238.4(KCNH2):c.1557+1G>A	KCNH2	Pathogenic	7	150649512	150649512	C	T	criteria provided, single submitter	ClinGen:CA10587640