Variants
CEP290 variants
The 47 CEP290 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. | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|
| c.2T>A | 88,141,306 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.297+1G>T | 88,139,144 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1189+1G>A | 88,125,245 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1189+2T>C | 88,125,244 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2991+1655A>G2991+1655A-G | 88,101,183 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3461_3461+1insA | 88,092,680 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.4438-2A>G | 88,084,854 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.4438-3del | 88,084,854 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.6271-8T>G | 88,062,786 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| D450Rfs*3 | c.1347dup | 88,121,008 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E245Vfs*10 | c.734_735del | 88,129,810 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1554del | c.4661_4663del | 88,084,626 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1656Nfs*3 | c.4966_4967del | 88,083,075 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F1950Lfs*15 | c.5850del | 88,071,785 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H50Y | c.148C>T | 88,140,988 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I556Ffs*17 | c.1666del | 88,118,527 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I1059Nfs*11 | c.3175dup | 88,093,903 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I1372Kfs*5 | c.4115_4116del | 88,087,857 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K62R | c.185A>G | 88,139,560 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K75E | c.223A>G | 88,139,522 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K484Rfs*8 | c.1451del | 88,120,184 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K1042X | c.3123dup | 88,093,955 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K1343Rfs*2 | c.4028del | 88,089,032 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K1484Nfs*4 | c.4452_4455del | 88,084,834 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K1575X | c.4723A>T | 88,083,936 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L738X | c.2213del | 88,111,697 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L805P | c.2414T>C | 88,109,135 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L2441Sfs*16 | c.7318_7321dup | 88,049,302 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L2448Tfs*8 | c.7341dup | 88,049,282 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| M407Efs*14 | c.1219_1220del | 88,121,135 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N85Kfs*6 | c.254dup | 88,139,187 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| N1775Kfs*7 | c.5324dup | 88,079,131 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q585X | c.1753C>T | 88,117,104 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q662X | c.1984C>T | 88,114,488 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q899X | c.2695C>T | 88,106,797 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q1302X | c.3904C>T | 88,089,157 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q1342X | c.4024C>T | 88,089,037 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1272X | c.3814C>T | 88,089,247 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1465X | c.4393C>T | 88,086,083 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1752W | c.5254C>T | 88,079,202 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1926P | c.5777G>C | 88,071,859 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S319Lfs*16 | c.955del | 88,126,425 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T55Sfs*3 | c.164_167del | 88,140,968 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T973dup | c.2917_2919dup | 88,102,909 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| W7C | c.21G>T | 88,141,287 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y531X | c.1593C>A | 88,118,673 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y2024X | c.6072C>A | 88,068,585 | Pathogenic | 3 stars out of 4 reviewed by expert panel |