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.5284G>A (p.Val1762Met)	SCN5A	Pathogenic	3	38592576	38592576	C	T	criteria provided, multiple submitters, no conflicts	UniProtKB:Q14524#VAR_055209,ClinGen:CA019062
single nucleotide variant	NM_000335.5(SCN5A):c.5299A>G (p.Ile1767Val)	SCN5A	Pathogenic	3	38592561	38592561	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA019094,UniProtKB:Q14524#VAR_055211
single nucleotide variant	NM_000335.5(SCN5A):c.5354T>A (p.Leu1785Gln)	SCN5A	Likely pathogenic	3	38592506	38592506	A	T	criteria provided, single submitter	ClinGen:CA019153
single nucleotide variant	NM_000335.5(SCN5A):c.5366A>G (p.Asp1789Gly)	SCN5A	Pathogenic	3	38592494	38592494	T	C	criteria provided, single submitter	ClinGen:CA019174
single nucleotide variant	NM_000335.5(SCN5A):c.5621T>C (p.Met1874Thr)	SCN5A	Likely pathogenic	3	38592239	38592239	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA019394,UniProtKB:Q14524#VAR_055216
single nucleotide variant	NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp)	SCN5A	Pathogenic/Likely pathogenic	3	38655264	38655264	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA019714,UniProtKB:Q14524#VAR_055164
single nucleotide variant	NM_000335.5(SCN5A):c.845G>A (p.Arg282His)	SCN5A	Pathogenic/Likely pathogenic	3	38651314	38651314	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019849,UniProtKB:Q14524#VAR_026348
single nucleotide variant	NM_000335.5(SCN5A):c.3960+1G>A	SCN5A	Pathogenic/Likely pathogenic	3	38603905	38603905	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017659
single nucleotide variant	NM_001167623.2(CACNA1C):c.1204G>A (p.Gly402Ser)	CACNA1C	Pathogenic	12	2613692	2613692	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA301236
Deletion	NM_000335.5(SCN5A):c.1936del (p.Gln646fs)	SCN5A	Pathogenic	3	38640496	38640496	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015579