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.1542_1549del (p.Thr515fs)	PKP2	Pathogenic/Likely pathogenic	12	32993969	32993976	CATCCAGTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619518
Deletion	NM_001005242.3(PKP2):c.1807_1829del (p.Cys603fs)	PKP2	Pathogenic/Likely pathogenic	12	32975411	32975433	TTTCCTGCTTCGACTGCCAAAACA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619516
single nucleotide variant	NM_000238.4(KCNH2):c.472+1G>A	KCNH2	Pathogenic/Likely pathogenic	7	150656659	150656659	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618414
single nucleotide variant	NM_000238.4(KCNH2):c.2083C>T (p.Gln695Ter)	KCNH2	Pathogenic/Likely pathogenic	7	150648071	150648071	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618406
Deletion	NM_000238.4(KCNH2):c.3099_3112del (p.Pro1034fs)	KCNH2	Pathogenic/Likely pathogenic	7	150644456	150644469	ACGTCGCCCCGGGGC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618397
single nucleotide variant	NM_000335.5(SCN5A):c.1921C>T (p.Gln641Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38640511	38640511	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617953
Deletion	NM_000335.5(SCN5A):c.3244del (p.Ser1082fs)	SCN5A	Pathogenic/Likely pathogenic	3	38620968	38620968	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617948
Deletion	NM_000335.5(SCN5A):c.4191del (p.Val1399fs)	SCN5A	Pathogenic/Likely pathogenic	3	38601689	38601689	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617947
Deletion	NM_000335.5(SCN5A):c.3010_3022del (p.Cys1004fs)	SCN5A	Pathogenic/Likely pathogenic	3	38622628	38622640	GGGGTGGCAATGCA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611470
Deletion	NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs)	SCN5A	Pathogenic/Likely pathogenic	3	38592443	38592446	CTGAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611455