不整脈原性右室心筋症

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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
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
Deletion	NM_001005242.3(PKP2):c.837_838del (p.Val280fs)	PKP2	Pathogenic	12	33030976	33030977	ACG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012527
single nucleotide variant	NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter)	PKP2	Pathogenic	12	33031151	33031151	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012429
Deletion	NM_001005242.3(PKP2):c.623del (p.Thr208fs)	PKP2	Pathogenic	12	33031191	33031191	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012419
Duplication	NM_001005242.3(PKP2):c.533dup (p.His179fs)	PKP2	Pathogenic/Likely pathogenic	12	33031280	33031281	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA308755
single nucleotide variant	NM_001005242.3(PKP2):c.397C>T (p.Gln133Ter)	PKP2	Pathogenic	12	33031417	33031417	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012301