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.4468C>T (p.Gln1490Ter)	SCN5A	Pathogenic	3	38597218	38597218	G	A	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_38550301)_(38794030_?)del	SCN5A	Pathogenic	3	38591792	38835521	na	na	criteria provided, single submitter	-
Duplication	NC_000003.11:g.(?_38616768)_(38651475_?)dup	SCN5A	Likely pathogenic	3	38616768	38651475	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.4909C>T (p.Arg1637Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38592951	38592951	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA063937
Deletion	NM_000335.5(SCN5A):c.1613del (p.Gly538fs)	SCN5A	Pathogenic/Likely pathogenic	3	38645480	38645480	AC	A	criteria provided, single submitter	ClinGen:CA658796278
single nucleotide variant	NM_000335.5(SCN5A):c.1A>T (p.Met1Leu)	SCN5A	Likely pathogenic	3	38674798	38674798	T	A	criteria provided, single submitter	ClinGen:CA352159669
single nucleotide variant	NM_000335.5(SCN5A):c.2968C>T (p.Gln990Ter)	SCN5A	Likely pathogenic	3	38622682	38622682	G	A	criteria provided, single submitter	ClinGen:CA352140043
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
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.3809G>A (p.Trp1270Ter)	SCN5A	Pathogenic	3	38607928	38607928	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA352148956