Variants
CHEK2 variants
Predicted effect: Frameshift. 123 of the 323 CHEK2 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 |
|---|---|---|---|---|---|
| A91Cfs*17 | c.269dup | Exon 2 | 28,734,452 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A98Pfs*12 | c.292del | Exon 2 | 28,734,429 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.276del | Exon 2 | 28,734,445 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.432del | Exon 3 | 28,725,254 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.600del | Exon 5 | 28,719,477 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.870del | Exon 8 | 28,703,542 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1546del | Exon 15 | 28,687,982 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C385Vfs*29 | c.1153del | Exon 11 | 28,695,815 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D6Mfs*55 | c.16del | Exon 2 | 28,734,705 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D162Rfs*25 | c.480_483dup | Exon 4 | 28,725,085 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D208Ifs*9 | c.622del | Exon 5 | 28,719,455 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D293Mfs*11 | c.877del | Exon 8 | 28,703,535 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D497Ifs*16 | c.1489del | Exon 14 | 28,689,187 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E107Nfs*3 | c.315del | Exon 2 | 28,734,406 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E122Dfs*9 | c.366del | Exon 3 | 28,725,320 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E122Nfs*9 | c.364del | Exon 3 | 28,725,322 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E219Nfs*16 | c.655del | Exon 5 | 28,719,422 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E233Rfs*12 | c.696dup | Exon 6 | 28,712,004 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E263Gfs*8 | c.788_789del | Exon 6 | 28,711,911 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E273Nfs*16 | c.817_818del | Exon 7 | 28,710,033 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E275Kfs*3 | c.823del | Exon 7 | 28,710,028 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E302Dfs*2 | c.906del | Exon 8 | 28,703,506 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E308Rfs*4 | c.920dup | Exon 9 | 28,699,925 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E351Rfs*14 | c.1050del | Exon 10 | 28,696,945 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E377Tfs*11 | c.1111_1127dup | Exon 11 | 28,695,841 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E457Rfs*33 | c.1368dup | Exon 12 | 28,695,133 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E479Kfs*3 | c.1434del | Exon 13 | 28,694,058 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E501Rfs*12 | c.1501del | Exon 14 | 28,689,175 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E502Rfs*12 | c.1502_1503dup | Exon 14 | 28,689,173 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F169Lfs*2 | c.507del | Exon 4 | 28,725,061 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F199Lfs*6 | c.597del | Exon 5 | 28,719,480 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F202Lfs*3 | c.606del | Exon 5 | 28,719,471 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F292Lfs*12 | c.876del | Exon 8 | 28,703,536 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F418Lfs*5 | c.1253_1254insA | Exon 11 | 28,695,715 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F418Lfs*19 | c.1254del | Exon 11 | 28,695,714 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F427Sfs*3 | c.1279_1280insC | Exon 12 | 28,695,222 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F447Lfs*22 | c.1341del | Exon 12 | 28,695,160 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G151Vfs*10 | c.452del | Exon 4 | 28,725,116 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G176Rfs*10 | c.524dup | Exon 4 | 28,725,044 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G307Efs*13 | c.920del | Exon 9 | 28,699,925 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G307Rfs*4 | c.919_920del | Exon 9 | 28,699,925 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H22Mfs*39 | c.64del | Exon 2 | 28,734,657 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H54Lfs*22 | c.159_160del | Exon 2 | 28,734,561 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H371Rfs*18 | c.1111_1127del | Exon 11 | 28,695,841 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I258Mfs*13 | c.774_775del | Exon 6 | 28,711,925 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I276Ffs*2 | c.826del | Exon 7 | 28,710,025 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I366Lfs*16 | c.1096del | Exon 11 | 28,695,872 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I416Nfs*7 | c.1246dup | Exon 11 | 28,695,722 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K135Nfs*26 | c.405del | Exon 3 | 28,725,281 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K179Nfs*5 | c.537del | Exon 4 | 28,725,031 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K279Sfs*2 | c.836del | Exon 7 | 28,710,015 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K287Rfs*17 | c.860del | Exon 8 | 28,703,552 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K373Qfs*22 | c.1116dup | Exon 11 | 28,695,852 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K444Nfs*25 | c.1332del | Exon 12 | 28,695,169 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K458Sfs*31 | c.1371_1372del | Exon 12 | 28,695,129 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K472Rfs*10 | c.1415del | Exon 13 | 28,694,077 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L193Kfs*4 | c.577_578del | Exon 4 | 28,724,990 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L301Wfs*3 | c.902del | Exon 8 | 28,703,510 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L309Sfs*12 | c.919_920dup | Exon 9 | 28,699,925 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L332Pfs*17 | c.995del | Exon 9 | 28,699,850 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L355Cfs*10 | c.1063del | Exon 10 | 28,696,932 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L380Hfs*14 | c.1139_1140del | Exon 11 | 28,695,828 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L391Wfs*23 | c.1170del | Exon 11 | 28,695,798 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L417Ffs*20 | c.1248del | Exon 11 | 28,695,720 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L467Wfs*2 | c.1400del | Exon 13 | 28,694,092 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L486Afs*4 | c.1455dup | Exon 13 | 28,694,037 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L498Ffs*15 | c.1492del | Exon 14 | 28,689,184 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L498Vfs*2 | c.1492_1496del | Exon 14 | 28,689,180 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L499Cfs*14 | c.1495del | Exon 14 | 28,689,181 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L508Pfs*11 | c.1522dup | Exon 14 | 28,689,154 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| M222Nfs*24 | c.661_664dup | Exon 5 | 28,719,413 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| M381Ifs*14 | c.1142_1143insA | Exon 11 | 28,695,826 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N185Kfs*9 | c.555del | Exon 4 | 28,725,013 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N186Ifs*8 | c.557del | Exon 4 | 28,725,011 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N281Kfs*9 | c.842dup | Exon 7 | 28,710,009 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N290Tfs*14 | c.869del | Exon 8 | 28,703,543 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N446Tfs*23 | c.1337del | Exon 12 | 28,695,164 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P75Lfs*35 | c.222del | Exon 2 | 28,734,499 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P85Lfs*25 | c.254del | Exon 2 | 28,734,467 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P350Afs*19 | c.1046dup | Exon 10 | 28,696,949 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P449Lfs*20 | c.1344del | Exon 12 | 28,695,157 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P484Rfs*8 | c.1451del | Exon 13 | 28,694,041 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q11Pfs*66 | c.31dup | Exon 2 | 28,734,690 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q34Vfs*42 | c.100_101del | Exon 2 | 28,734,620 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q78Rfs*3 | c.233_234del | Exon 2 | 28,734,487 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q83Kfs*27 | c.247del | Exon 2 | 28,734,474 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q336Rfs*13 | c.1007del | Exon 9 | 28,699,838 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q433Rfs*17 | c.1298_1299del | Exon 12 | 28,695,202 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q439Rfs*30 | c.1314del | Exon 12 | 28,695,187 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R95Dfs*15 | c.282del | Exon 2 | 28,734,439 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R117Gfs*14 | c.349del | Exon 3 | 28,725,337 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R145Gfs*16 | c.433del | Exon 3 | 28,725,253 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R254Gfs*21 | c.760del | Exon 6 | 28,711,940 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R318Afs*2 | c.952del | Exon 9 | 28,699,893 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S5Lfs*54 | c.14_20del | Exon 2 | 28,734,701 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S61Efs*16 | c.179dup | Exon 2 | 28,734,542 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S210Ffs*6 | c.629_632del | Exon 5 | 28,719,445 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S260Ffs*12 | c.776dup | Exon 6 | 28,711,924 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S422Vfs*15 | c.1263del | Exon 12 | 28,695,238 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S516Lfs*50 | c.1547del | Exon 15 | 28,687,981 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |