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.1519-1G>A	SCN5A	Likely pathogenic	3	38645575	38645575	C	T	criteria provided, single submitter	-
Deletion	NM_000335.5(SCN5A):c.1428_1431del (p.Ser476fs)	SCN5A	Pathogenic/Likely pathogenic	3	38646307	38646310	TCTTG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014854
single nucleotide variant	NM_000335.5(SCN5A):c.1167C>A (p.Tyr389Ter)	SCN5A	Pathogenic	3	38647613	38647613	G	T	criteria provided, single submitter	ClinGen:CA014445
single nucleotide variant	NM_000335.5(SCN5A):c.1134T>A (p.Tyr378Ter)	SCN5A	Pathogenic	3	38648166	38648166	A	T	criteria provided, single submitter	ClinGen:CA014398
single nucleotide variant	NM_000335.5(SCN5A):c.1080G>A (p.Trp360Ter)	SCN5A	Pathogenic	3	38648220	38648220	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014295
single nucleotide variant	NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter)	SCN5A	Pathogenic	3	38655273	38655273	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA019700
single nucleotide variant	NM_000335.5(SCN5A):c.664C>G (p.Arg222Gly)	SCN5A	Likely pathogenic	3	38655273	38655273	G	C	criteria provided, single submitter	ClinGen:CA019695
single nucleotide variant	NM_000335.5(SCN5A):c.611+1G>A	SCN5A	Pathogenic	3	38662333	38662333	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019622
single nucleotide variant	NM_000335.5(SCN5A):c.483-1G>A	SCN5A	Pathogenic/Likely pathogenic	3	38662463	38662463	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018624
Deletion	NM_000335.5(SCN5A):c.57del (p.Glu19fs)	SCN5A	Pathogenic	3	38674742	38674742	AC	A	criteria provided, single submitter	ClinGen:CA019479