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
Duplication	NM_000238.4(KCNH2):c.3106_3112dup (p.Val1038fs)	KCNH2	Likely pathogenic	7	150644455	150644456	A	ACGTCGCC	criteria provided, single submitter	ClinGen:CA658797027
Deletion	NM_000238.4(KCNH2):c.3093_3106del (p.Pro1034fs)	KCNH2	Pathogenic	7	150644462	150644475	CCCCGGGGCCGCCGA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658761310
Deletion	NM_000238.4(KCNH2):c.2398+1_2398+8del	KCNH2	Pathogenic	7	150647248	150647255	ACCCCATAC	A	criteria provided, single submitter	ClinGen:CA658797042
Deletion	NM_000238.4(KCNH2):c.221_251del (p.Thr74fs)	KCNH2	Pathogenic	7	150671855	150671885	CTGCGCGATCTGCGCGGCAGCGCGGCGCTGCG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658761346
single nucleotide variant	NM_000335.5(SCN5A):c.2466G>A (p.Trp822Ter)	SCN5A	Pathogenic	3	38627503	38627503	C	T	criteria provided, single submitter	ClinGen:CA352142670
single nucleotide variant	NM_000335.5(SCN5A):c.704-2A>G	SCN5A	Likely pathogenic	3	38651457	38651457	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA352151086
single nucleotide variant	NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter)	SCN5A	Pathogenic	3	38645490	38645490	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA352147237
Duplication	NM_001005242.3(PKP2):c.968_975dup (p.Ala326fs)	PKP2	Likely pathogenic	12	33030838	33030839	C	CGGCCGCCT	criteria provided, single submitter	ClinGen:CA658797863
Duplication	NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs)	PKP2	Pathogenic/Likely pathogenic	12	32993972	32993973	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797869
single nucleotide variant	NM_001005242.3(PKP2):c.1035-1G>A	PKP2	Likely pathogenic	12	33021997	33021997	C	T	criteria provided, single submitter	ClinGen:CA384360026