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.3572G>A (p.Trp1191Ter)	SCN5A	Pathogenic	3	38616879	38616879	C	T	criteria provided, single submitter	ClinGen:CA017274
single nucleotide variant	NM_000335.5(SCN5A):c.3550C>T (p.Gln1184Ter)	SCN5A	Pathogenic	3	38616901	38616901	G	A	criteria provided, single submitter	ClinGen:CA017254
Duplication	NM_000335.5(SCN5A):c.3488dup (p.Glu1164fs)	SCN5A	Pathogenic	3	38618171	38618172	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA307962
Indel	NM_000335.5(SCN5A):c.3142_3153delinsTCTGACTGTGT (p.Pro1048fs)	SCN5A	Pathogenic	3	38622497	38622508	CACAGCGATGGG	ACACAGTCAGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA016864
Indel	NM_000335.5(SCN5A):c.3112delinsCCC (p.Thr1038fs)	SCN5A	Pathogenic	3	38622538	38622538	T	GGG	criteria provided, single submitter	ClinGen:CA307949
single nucleotide variant	NM_000335.5(SCN5A):c.2788-2A>G	SCN5A	Pathogenic	3	38622864	38622864	T	C	criteria provided, single submitter	ClinGen:CA016509
Duplication	NM_000335.5(SCN5A):c.2704_2705dup (p.Met903fs)	SCN5A	Pathogenic	3	38627263	38627264	G	GGT	criteria provided, single submitter	ClinGen:CA308148
single nucleotide variant	NM_000335.5(SCN5A):c.2678G>T (p.Arg893Leu)	SCN5A	Pathogenic	3	38627291	38627291	C	A	criteria provided, single submitter	-
Deletion	NM_000335.5(SCN5A):c.2582_2583del (p.Phe861fs)	SCN5A	Pathogenic	3	38627386	38627387	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA016300
single nucleotide variant	NM_000335.5(SCN5A):c.2575C>T (p.Gln859Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38627394	38627394	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016289