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_005477.3(HCN4):c.1441T>C (p.Tyr481His)	HCN4	Pathogenic/Likely pathogenic	15	73622063	73622063	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043943,OMIM:605206.0009
single nucleotide variant	NM_005477.3(HCN4):c.1444G>C (p.Gly482Arg)	HCN4	Pathogenic	15	73622060	73622060	C	G	criteria provided, single submitter	ClinGen:CA16043942,OMIM:605206.0008
single nucleotide variant	NM_005477.3(HCN4):c.1444G>A (p.Gly482Arg)	HCN4	Pathogenic/Likely pathogenic	15	73622060	73622060	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA202778
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.4087G>C (p.Val1363Leu)	CACNA1C	Likely pathogenic	12	2763013	2763013	G	C	criteria provided, single submitter	ClinGen:CA383373945
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.4087G>A (p.Val1363Met)	CACNA1C	Likely pathogenic	12	2763013	2763013	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA383373944,OMIM:114205.0011
single nucleotide variant	NM_000719.7(CACNA1C):c.2977G>C (p.Val993Leu)	CACNA1C	Likely pathogenic	12	2714263	2714263	G	C	criteria provided, single submitter	ClinGen:CA383373588
Insertion	NM_000719.7(CACNA1C):c.3717+1_3717+2insA	CACNA1C	Likely pathogenic	12	2719866	2719867	G	GA	criteria provided, single submitter	ClinGen:CA645372906
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