Variants
MUTYH variants
The 131 MUTYH variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A17Pfs*46 | c.49del | Exon 2 | 45,334,456 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A259Pfs*32 | c.775del | Exon 10 | 45,332,239 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A357Pfs*23 | c.1063del | Exon 12 | 45,331,699 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.-6-2A>G | Intron 1 | 45,334,513 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.115+1G>A | Intron 2 | 45,334,390 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.115+2T>G | Intron 2 | 45,334,389 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.224G>A | Exon 3 | 45,333,453 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.228C>G | Exon 3 | 45,333,449 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.264+1G>T | Intron 3 | 45,333,412 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.304+2T>C | Intron 4 | 45,333,283 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.305-1G>A | Intron 4 | 45,333,171 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.305-1G>C | Intron 4 | 45,333,171 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.305-2A>G | Intron 4 | 45,333,172 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.308G>A | Exon 5 | 45,333,167 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.378+1G>T | Intron 5 | 45,333,096 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.378+2T>G | Intron 5 | 45,333,095 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.379-1G>A | Intron 5 | 45,332,960 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.384G>A | Exon 6 | 45,332,954 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.420+2T>C | Intron 6 | 45,332,916 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.420+19_420+31del | Intron 6 | 45,332,886 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.421-2A>C | Intron 6 | 45,332,836 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.606+1G>A | Intron 8 | 45,332,573 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.606+1G>T | Intron 8 | 45,332,573 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.606G>A | Exon 8 | 45,332,574 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.607-2A>C | Intron 8 | 45,332,490 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.849_849+1del | Intron 10 | 45,332,164 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.849+1G>A | Intron 10 | 45,332,165 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.849+3A>C | Intron 10 | 45,332,163 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.850-1G>A | Intron 10 | 45,332,087 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.954G>A | Exon 12 | 45,331,809 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1102+1G>A | Intron 12 | 45,331,660 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1103-2A>G | Intron 12 | 45,331,558 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1239+1G>A | Intron 13 | 45,331,419 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1392_1392+6del | Intron 14 | 45,331,175 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1393-1G>A | Intron 14 | 45,330,558 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1434+1G>C | Intron 15 | 45,330,515 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1434+1G>T | Intron 15 | 45,330,515 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1435-2A>T | Intron 15 | 45,329,439 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C314Gfs*182 | c.940_962del | Exon 12 | 45,331,800 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D243Gfs*58 | c.727dup | Exon 10 | 45,332,287 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E90X | c.268G>T | Exon 4 | 45,333,321 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E92Rfs*26 | c.274del | Exon 4 | 45,333,314 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E167Rfs*58 | c.497dup | Exon 8 | 45,332,682 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E168X | c.502G>T | Exon 8 | 45,332,678 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E382Gfs*43 | c.1143_1144dup | Exon 13 | 45,331,514 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E395X | c.1183G>T | Exon 13 | 45,331,476 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E413Rfs*11 | c.1237del | Exon 13 | 45,331,421 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E451X | c.1351G>T | Exon 14 | 45,331,223 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E452del | c.1353_1355del | Exon 14 | 45,331,218 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E452X | c.1354G>T | Exon 14 | 45,331,220 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G39Afs*24 | c.116del | Exon 3 | 45,333,560 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G148Tfs*16 | c.442_451del | Exon 7 | 45,332,803 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G155D | c.464G>A | Exon 7 | 45,332,791 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G171Afs*41 | c.507del | Exon 8 | 45,332,672 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G258E | c.773G>A | Exon 10 | 45,332,242 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G368D | c.1103G>A | Exon 13 | 45,331,556 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K127X | c.379A>T | Exon 6 | 45,332,959 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L184Gfs*19 | c.549_576del | Exon 8 | 45,332,603 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L360P | c.1079T>C | Exon 12 | 45,331,684 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| M108Rfs*15 | c.309_322dup | Exon 5 | 45,333,152 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| M255V | c.763A>G | Exon 10 | 45,332,252 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N210S | c.629A>G | Exon 9 | 45,332,466 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P84Tfs*9 | c.249dup | Exon 3 | 45,333,427 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P129L | c.386C>T | Exon 6 | 45,332,952 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P267L | c.800C>T | Exon 10 | 45,332,215 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P339Qfs*164 | c.1016_1017del | Exon 12 | 45,331,745 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P377L | c.1130C>T | Exon 13 | 45,331,529 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P377Lfs*123 | c.1130_1140del | Exon 13 | 45,331,518 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q31X | c.91C>T | Exon 2 | 45,334,415 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q113Rfs*5 | c.337del | Exon 5 | 45,333,137 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q126Efs*98 | c.376_377del | Exon 5 | 45,333,097 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q126X | c.376C>T | Exon 5 | 45,333,099 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q182X | c.544C>T | Exon 8 | 45,332,636 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q202X | c.604C>T | Exon 8 | 45,332,576 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q232X | c.694C>T | Exon 9 | 45,332,401 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q239X | c.715C>T | Exon 10 | 45,332,300 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q286X | c.856C>T | Exon 11 | 45,332,080 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q288X | c.862C>T | Exon 11 | 45,332,074 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q310X | c.928C>T | Exon 12 | 45,331,835 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q351X | c.1051C>T | Exon 12 | 45,331,712 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q363X | c.1087C>T | Exon 12 | 45,331,676 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q386X | c.1156C>T | Exon 13 | 45,331,503 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q394X | c.1180C>T | Exon 13 | 45,331,479 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q473Rfs*70 | c.1418del | Exon 15 | 45,330,531 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q473X | c.1417C>T | Exon 15 | 45,330,533 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R5X | c.13C>T | Exon 2 | 45,334,493 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R69X | c.205C>T | Exon 3 | 45,333,472 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R81P | c.242G>C | Exon 3 | 45,333,435 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R81W | c.241C>T | Exon 3 | 45,333,436 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R154C | c.460C>T | Exon 7 | 45,332,795 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R154H | c.461G>A | Exon 7 | 45,332,794 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R213Q | c.638G>A | Exon 9 | 45,332,457 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R213W | c.637C>T | Exon 9 | 45,332,458 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R217C | c.649C>T | Exon 9 | 45,332,446 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R217H | c.650G>A | Exon 9 | 45,332,445 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R219X | c.655C>T | Exon 9 | 45,332,440 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R246W | c.736C>T | Exon 10 | 45,332,279 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R332Efs*48 | c.994del | Exon 12 | 45,331,768 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R340Gfs*40 | c.1017del | Exon 12 | 45,331,745 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R340Qfs*164 | c.1017dup | Exon 12 | 45,331,745 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |