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
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_000238.4(KCNH2):c.1557+1G>C	KCNH2	Pathogenic/Likely pathogenic	7	150649512	150649512	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA369859377
single nucleotide variant	NM_000335.5(SCN5A):c.5293A>T (p.Met1765Leu)	SCN5A	Pathogenic	3	38592567	38592567	T	A	criteria provided, single submitter	ClinGen:CA352141606
single nucleotide variant	NM_000238.4(KCNH2):c.3202C>T (p.Gln1068Ter)	KCNH2	Pathogenic	7	150644093	150644093	G	A	criteria provided, single submitter	ClinGen:CA369852264
single nucleotide variant	NM_000335.5(SCN5A):c.468G>A (p.Trp156Ter)	SCN5A	Pathogenic	3	38663905	38663905	C	T	criteria provided, single submitter	ClinGen:CA352154551
Deletion	NM_000335.5(SCN5A):c.5458_5459del (p.Leu1820fs)	SCN5A	Pathogenic/Likely pathogenic	3	38592401	38592402	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655809
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.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_001005242.3(PKP2):c.1557-2A>G	PKP2	Pathogenic	12	32977098	32977098	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA384365117
Deletion	NM_001005242.3(PKP2):c.1474del (p.Ser492fs)	PKP2	Pathogenic	12	32994044	32994044	GA	G	criteria provided, single submitter	ClinGen:CA658658128