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_000335.5(SCN5A):c.2533del (p.Val845fs)	SCN5A	Pathogenic/Likely pathogenic	3	38627436	38627436	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016249
single nucleotide variant	NM_000335.5(SCN5A):c.2482C>T (p.Leu828Phe)	SCN5A	Pathogenic	3	38627487	38627487	G	A	criteria provided, single submitter	-
Deletion	NM_000335.5(SCN5A):c.2343del (p.Gly780_Trp781insTer)	SCN5A	Pathogenic	3	38628984	38628984	TC	T	criteria provided, single submitter	ClinGen:CA016100
single nucleotide variant	NM_000335.5(SCN5A):c.2291T>C (p.Met764Thr)	SCN5A	Pathogenic	3	38629036	38629036	A	G	criteria provided, single submitter	ClinGen:CA016037
Deletion	NM_000335.5(SCN5A):c.2103del (p.Leu702fs)	SCN5A	Pathogenic	3	38639379	38639379	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015846
single nucleotide variant	NM_000335.5(SCN5A):c.2023+2T>A	SCN5A	Pathogenic	3	38640407	38640407	A	T	criteria provided, single submitter	ClinGen:CA015749
single nucleotide variant	NM_000335.5(SCN5A):c.1891-1G>A	SCN5A	Pathogenic	3	38640542	38640542	C	T	criteria provided, single submitter	ClinGen:CA015498
Deletion	NM_000335.5(SCN5A):c.1753del (p.His585fs)	SCN5A	Pathogenic	3	38645340	38645340	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015310
Deletion	NM_000335.5(SCN5A):c.1711del (p.Ser571fs)	SCN5A	Pathogenic	3	38645382	38645382	CT	C	criteria provided, single submitter	ClinGen:CA015225
Deletion	NM_000335.5(SCN5A):c.1583_1584del (p.Ser528fs)	SCN5A	Pathogenic	3	38645509	38645510	TGC	T	criteria provided, single submitter	ClinGen:CA015010