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_001167623.2(CACNA1C):c.1204G>A (p.Gly402Ser)	CACNA1C	Pathogenic	12	2613692	2613692	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA301236
single nucleotide variant	NM_001167623.2(CACNA1C):c.1216G>A (p.Gly406Arg)	CACNA1C	Pathogenic/Likely pathogenic	12	2613704	2613704	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA301241
single nucleotide variant	NM_001167623.2(CACNA1C):c.1216G>C (p.Gly406Arg)	CACNA1C	Pathogenic	12	2613704	2613704	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA301245
single nucleotide variant	NM_000719.7(CACNA1C):c.1204G>A (p.Gly402Ser)	CACNA1C	Pathogenic	12	2614098	2614098	G	A	criteria provided, multiple submitters, no conflicts	OMIM:114205.0002,ClinGen:CA329627
single nucleotide variant	NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg)	CACNA1C	Pathogenic	12	2614110	2614110	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA301246,OMIM:114205.0001
single nucleotide variant	NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys)	CACNA1C	Pathogenic	12	2675631	2675631	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA301308,OMIM:114205.0016
single nucleotide variant	NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His)	CACNA1C	Pathogenic/Likely pathogenic	12	2675632	2675632	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042880,OMIM:114205.0017
single nucleotide variant	NM_000719.7(CACNA1C):c.1609A>G (p.Asn537Asp)	CACNA1C	Likely pathogenic	12	2675688	2675688	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA383368599
single nucleotide variant	NM_000719.7(CACNA1C):c.2570C>G (p.Pro857Arg)	CACNA1C	Pathogenic	12	2702418	2702418	C	G	criteria provided, single submitter	OMIM:114205.0005
single nucleotide variant	NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His)	CACNA1C	Pathogenic/Likely pathogenic	12	2702421	2702421	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA301396,OMIM:114205.0008