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.1511del (p.Gly504fs)	PKP2	Pathogenic	12	32994007	32994007	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011269
Deletion	NM_001005242.3(PKP2):c.1447del (p.Thr482_Leu483insTer)	PKP2	Pathogenic	12	32994071	32994071	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011187
Deletion	NM_001005242.3(PKP2):c.1399_1408del (p.Ser467fs)	PKP2	Pathogenic	12	32994110	32994119	TTGTCATTAGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011118
single nucleotide variant	NM_001005242.3(PKP2):c.1378+2T>A	PKP2	Pathogenic	12	33003698	33003698	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001005242.3(PKP2):c.1378G>C (p.Gly460Arg)	PKP2	Pathogenic	12	33003700	33003700	C	G	criteria provided, single submitter	ClinGen:CA011019
single nucleotide variant	NM_001005242.3(PKP2):c.1248T>A (p.Cys416Ter)	PKP2	Pathogenic	12	33003830	33003830	A	T	criteria provided, single submitter	ClinGen:CA010926
single nucleotide variant	NM_001005242.3(PKP2):c.1171-2A>G	PKP2	Pathogenic	12	33003909	33003909	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA010887
single nucleotide variant	NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp)	PKP2	Pathogenic/Likely pathogenic	12	33021869	33021869	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010825
Deletion	NM_001005242.3(PKP2):c.1125_1132del (p.Phe376fs)	PKP2	Pathogenic	12	33021899	33021906	TGTATGAAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA010803
single nucleotide variant	NM_001005242.3(PKP2):c.1063C>T (p.Arg355Ter)	PKP2	Pathogenic	12	33021968	33021968	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010728