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.2253del (p.Cys752fs)	PKP2	Pathogenic	12	32949147	32949147	AG	A	criteria provided, single submitter	ClinGen:CA011978
Deletion	NM_001005242.3(PKP2):c.2169del (p.Glu725fs)	PKP2	Pathogenic	12	32949231	32949231	TG	T	criteria provided, single submitter	ClinGen:CA011897
single nucleotide variant	NM_001005242.3(PKP2):c.2167+1G>T	PKP2	Likely pathogenic	12	32955336	32955336	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001005242.3(PKP2):c.2167+1G>A	PKP2	Pathogenic/Likely pathogenic	12	32955336	32955336	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011854
Deletion	NM_001005242.3(PKP2):c.2142del (p.Asn715fs)	PKP2	Likely pathogenic	12	32955362	32955362	TC	T	criteria provided, single submitter	ClinGen:CA011846
Deletion	NM_001005242.3(PKP2):c.1881del (p.Lys628fs)	PKP2	Pathogenic	12	32974422	32974422	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011637
single nucleotide variant	NM_001005242.3(PKP2):c.1819C>T (p.Arg607Ter)	PKP2	Pathogenic	12	32975421	32975421	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011579
single nucleotide variant	NM_001005242.3(PKP2):c.1723G>T (p.Glu575Ter)	PKP2	Likely pathogenic	12	32975517	32975517	C	A	criteria provided, single submitter	ClinGen:CA011520
single nucleotide variant	NM_001005242.3(PKP2):c.1700T>G (p.Leu567Arg)	PKP2	Likely pathogenic	12	32975540	32975540	A	C	criteria provided, single submitter	ClinGen:CA011478
single nucleotide variant	NM_001005242.3(PKP2):c.1672A>T (p.Lys558Ter)	PKP2	Pathogenic	12	32976981	32976981	T	A	criteria provided, single submitter	ClinGen:CA011445