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
Deletion	NM_001005242.3(PKP2):c.2419del (p.Thr807fs)	PKP2	Likely pathogenic	12	32945604	32945604	GT	G	criteria provided, single submitter	ClinGen:CA012158
Deletion	NM_001005242.3(PKP2):c.2422del (p.Glu808fs)	PKP2	Pathogenic	12	32945601	32945601	TC	T	criteria provided, single submitter	ClinGen:CA604480594
Deletion	NM_001005242.3(PKP2):c.2437_2445+41del	PKP2	Likely pathogenic	12	32945537	32945586	TGGCTCTGTTAACTATGACACATTCCTTGTTCATGTTCTTACCTTCTTGTA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614117
single nucleotide variant	NM_000719.7(CACNA1C):c.4418C>G (p.Ala1473Gly)	CACNA1C	Pathogenic/Likely pathogenic	12	2774766	2774766	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA346874
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.4087G>A (p.Val1363Met)	CACNA1C	Likely pathogenic	12	2763013	2763013	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA383373944,OMIM:114205.0011
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.3497T>C (p.Ile1166Thr)	CACNA1C	Pathogenic	12	2717817	2717817	T	C	criteria provided, single submitter	ClinGen:CA204669,OMIM:114205.0015
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
single nucleotide variant	NM_000719.7(CACNA1C):c.2578C>G (p.Arg860Gly)	CACNA1C	Pathogenic	12	2702426	2702426	C	G	criteria provided, single submitter	ClinGen:CA301743