ClinVar Miner

List of variants in gene PKP2 reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NM_001005242.2(PKP2):c.1807_1829del (p.Cys603fs) rs1555142963
NM_001005242.2(PKP2):c.2178_2179TC[1] (p.Leu727fs) rs1064794350
NM_004572.3(PKP2):c.1170+4_1170+7del rs397516988
NM_004572.3(PKP2):c.1252del (p.Ala418fs) rs1555145509
NM_004572.3(PKP2):c.1292T>A (p.Leu431Ter) rs143397927
NM_004572.3(PKP2):c.1378+1G>C rs397516994
NM_004572.3(PKP2):c.1440_1444del (p.Asn480fs) rs775995156
NM_004572.3(PKP2):c.1547A>G (p.Lys516Arg) rs749926313
NM_004572.3(PKP2):c.155dup (p.Ser53fs) rs958681660
NM_004572.3(PKP2):c.1674_1681del (p.Thr559fs) rs1064796069
NM_004572.3(PKP2):c.1832T>G (p.Leu611Arg) rs794729111
NM_004572.3(PKP2):c.1843T>A (p.Ser615Thr) rs768286281
NM_004572.3(PKP2):c.1855G>T (p.Glu619Ter) rs794729135
NM_004572.3(PKP2):c.190dup (p.Leu64fs) rs762288961
NM_004572.3(PKP2):c.198del (p.Lys67fs) rs1555149952
NM_004572.3(PKP2):c.2145+1G>C rs1057520726
NM_004572.3(PKP2):c.2274del (p.Asn759fs) rs794729130
NM_004572.3(PKP2):c.2300-1G>A rs1060501184
NM_004572.3(PKP2):c.2484C>T (p.Gly828=) rs727504509
NM_004572.3(PKP2):c.2489+5G>A rs1555141020
NM_004572.3(PKP2):c.2522C>T (p.Ser841Phe) rs794729099
NM_004572.3(PKP2):c.2531T>C (p.Leu844Pro) rs794729100
NM_004572.3(PKP2):c.326_336del (p.Asp109fs) rs1064796268
NM_004572.3(PKP2):c.837_838del (p.Val280fs) rs772220644
NM_004572.3(PKP2):c.986_992del (p.Ser329fs) rs1373300155

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.