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
Indel	NM_001005242.3(PKP2):c.2311_2316delinsGAAA (p.Asn771fs)	PKP2	Likely pathogenic	12	32949084	32949089	GGTGTT	TTTC	criteria provided, single submitter	ClinGen:CA012023
single nucleotide variant	NM_001005242.3(PKP2):c.1177C>T (p.Gln393Ter)	PKP2	Pathogenic/Likely pathogenic	12	33003901	33003901	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010892
single nucleotide variant	NM_001005242.3(PKP2):c.1170+1G>A	PKP2	Pathogenic/Likely pathogenic	12	33021860	33021860	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA010833
single nucleotide variant	NM_001005242.3(PKP2):c.337-2A>T	PKP2	Pathogenic/Likely pathogenic	12	33031479	33031479	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012272
Deletion	NM_001005242.3(PKP2):c.253_256del (p.Glu85fs)	PKP2	Pathogenic/Likely pathogenic	12	33031934	33031937	TACTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012144
single nucleotide variant	NM_000335.5(SCN5A):c.1338+2T>A	SCN5A	Pathogenic/Likely pathogenic	3	38647440	38647440	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014714
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.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.2573G>A (p.Arg858His)	CACNA1C	Pathogenic/Likely pathogenic	12	2702421	2702421	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA301396,OMIM:114205.0008