List of variants in gene PKP2 reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001005242.3(PKP2):c.1034+1G>A	rs869025496	0.00001
NM_001005242.3(PKP2):c.1138G>T (p.Glu380Ter)	rs878898365
NM_001005242.3(PKP2):c.1368del (p.Lys456fs)	rs1393661338
NM_001005242.3(PKP2):c.1708del (p.Leu570fs)	rs1555142994
NM_001005242.3(PKP2):c.1896G>A (p.Trp632Ter)	rs193922673
NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs)	rs1064794350
NM_001005242.3(PKP2):c.2311_2316delinsGAAA (p.Asn771fs)	rs786204395
NM_001005242.3(PKP2):c.2437_2445+41del	rs1064792928

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.