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
Deletion	NM_001005242.3(PKP2):c.1671del (p.Asp557fs)	PKP2	Pathogenic	12	32976982	32976982	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011436
Deletion	NM_001005242.3(PKP2):c.1667del (p.Asp556fs)	PKP2	Pathogenic	12	32976986	32976986	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011427
single nucleotide variant	NM_001005242.3(PKP2):c.1635T>G (p.Tyr545Ter)	PKP2	Pathogenic	12	32977018	32977018	A	C	criteria provided, single submitter	ClinGen:CA011402
single nucleotide variant	NM_001005242.3(PKP2):c.1557-1G>C	PKP2	Pathogenic	12	32977097	32977097	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA011321
Deletion	NM_001005242.3(PKP2):c.1532del (p.Phe511fs)	PKP2	Pathogenic	12	32993986	32993986	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA011282
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