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.1202_1209del (p.Leu401fs)	PKP2	Pathogenic	12	33003869	33003876	GGAGCTGCA	G	criteria provided, single submitter	ClinGen:CA658658130
Duplication	NM_001005242.3(PKP2):c.257dup (p.Tyr86Ter)	PKP2	Pathogenic	12	33031932	33031933	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658132
Deletion	NM_001005242.3(PKP2):c.198del (p.Lys67fs)	PKP2	Pathogenic/Likely pathogenic	12	33049468	33049468	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658133
Duplication	NM_001005242.3(PKP2):c.190dup (p.Leu64fs)	PKP2	Pathogenic/Likely pathogenic	12	33049475	33049476	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA6508312
Duplication	NM_001005242.3(PKP2):c.155dup (p.Ser53fs)	PKP2	Likely pathogenic	12	33049510	33049511	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA235280654
Deletion	NM_000335.5(SCN5A):c.3081del (p.Phe1028fs)	SCN5A	Pathogenic	3	38622569	38622569	AC	A	criteria provided, single submitter	ClinGen:CA658657284
single nucleotide variant	NM_000335.5(SCN5A):c.1121G>A (p.Trp374Ter)	SCN5A	Pathogenic	3	38648179	38648179	C	T	criteria provided, single submitter	ClinGen:CA352149313
single nucleotide variant	NM_000335.5(SCN5A):c.204T>A (p.Tyr68Ter)	SCN5A	Pathogenic	3	38674595	38674595	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA352158175
single nucleotide variant	NM_000335.5(SCN5A):c.1141-1G>A	SCN5A	Likely pathogenic	3	38647640	38647640	C	T	criteria provided, single submitter	ClinGen:CA352149157
Deletion	NM_000335.5(SCN5A):c.3873del (p.Phe1292fs)	SCN5A	Pathogenic	3	38603993	38603993	AG	A	criteria provided, single submitter	ClinGen:CA658657283