Variants
PKP2 variants
The 66 PKP2 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| c.1A>G | Exon 1 | 32,896,731 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.369G>A | Exon 3 | 32,878,511 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1378+1G>C | Intron 5 | 32,850,765 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1379-2A>T | Intron 5 | 32,841,207 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1379-2047_1379-2043del | Intron 5 | 32,843,247 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1482G>A | Exon 6 | 32,841,102 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1557-1G>C | Intron 6 | 32,824,163 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1839+2T>A | Intron 8 | 32,822,465 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2013+1G>A | Intron 9 | 32,821,355 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2014-1G>C | Intron 9 | 32,802,557 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2167+1G>A | Intron 10 | 32,802,402 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2168-1G>A | Intron 10 | 32,796,299 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2357+1G>A | Intron 11 | 32,796,108 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2357+1G>T | Intron 11 | 32,796,108 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C752R | c.2254T>C | Exon 11 | 32,796,212 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D596Efs*102 | c.1788_1789del | Exon 8 | 32,822,516 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E85Mfs*26 | c.253_256del | Exon 2 | 32,878,999 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E137Kfs*5 | c.409del | Exon 3 | 32,878,470 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E808Nfs*79 | c.2422del | Exon 12 | 32,792,666 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F511Sfs*8 | c.1532del | Exon 6 | 32,841,051 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G504Vfs*15 | c.1511del | Exon 6 | 32,841,072 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G516Wfs*12 | c.1545dup | Exon 6 | 32,841,038 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H179Afs*37 | c.533dup | Exon 3 | 32,878,346 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H689Afs*8 | c.2065_2070delinsG | Exon 10 | 32,802,500 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H689Pfs*8 | c.2066_2070del | Exon 10 | 32,802,499 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K470Nfs*6 | c.1410del | Exon 6 | 32,841,173 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K628Rfs*12 | c.1881del | Exon 9 | 32,821,487 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K683X | c.2047A>T | Exon 10 | 32,802,523 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L92X | c.275T>A | Exon 2 | 32,878,981 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L422Sfs*3 | c.1264_1265del | Exon 5 | 32,850,878 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L727Pfs*2 | c.2180_2181del | Exon 11 | 32,796,284 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q49Sfs*56 | c.144_165del | Exon 1 | 32,896,566 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q133X | c.397C>T | Exon 3 | 32,878,483 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q323Rfs*29 | c.968_971delinsGCT | Exon 3 | 32,877,909 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q378X | c.1132C>T | Exon 4 | 32,868,965 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q393X | c.1177C>T | Exon 5 | 32,850,967 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q444X | c.1330C>T | Exon 5 | 32,850,814 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q457X | c.1369_1372del | Exon 5 | 32,850,771 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q594X | c.1780C>T | Exon 8 | 32,822,526 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q616X | c.1846C>T | Exon 9 | 32,821,523 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R79X | c.235C>T | Exon 2 | 32,879,021 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R355X | c.1063C>T | Exon 4 | 32,869,034 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R388W | c.1162C>T | Exon 4 | 32,868,935 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R413X | c.1237C>T | Exon 5 | 32,850,907 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R607X | c.1819C>T | Exon 8 | 32,822,487 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R691X | c.2071C>T | Exon 10 | 32,802,499 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S53Efs*33 | c.155dup | Exon 1 | 32,896,576 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S608Rfs*92 | c.1820_1823dup | Exon 8 | 32,822,482 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S793Vfs*94 | c.2377del | Exon 12 | 32,792,711 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T50Sfs*61 | c.148_151del | Exon 1 | 32,896,580 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T208Kfs*55 | c.623del | Exon 3 | 32,878,256 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T248Kfs*17 | c.738_742dup | Exon 3 | 32,878,137 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V51Efs*34 | c.152_153del | Exon 1 | 32,896,578 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V280Hfs*55 | c.837_838del | Exon 3 | 32,878,041 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V321Afs*30 | c.962_965del | Exon 3 | 32,877,914 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V321Afs*31 | c.962del | Exon 3 | 32,877,917 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V406Sfs*4 | c.1211dup | Exon 5 | 32,850,932 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V564Cfs*6 | c.1689dup | Exon 8 | 32,822,616 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W123X | c.368G>A | Exon 3 | 32,878,512 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W463X | c.1388G>A | Exon 6 | 32,841,196 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W494X | c.1481G>A | Exon 6 | 32,841,103 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W632X | c.1896G>A | Exon 9 | 32,821,473 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y194X | c.582T>G | Exon 3 | 32,878,298 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y221X | c.663C>A | Exon 3 | 32,878,217 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y642X | c.1926T>A | Exon 9 | 32,821,443 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y763X | c.2289C>A | Exon 11 | 32,796,177 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |