Variants
CDKL5 variants
The 33 CDKL5 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 |
|---|---|---|---|---|---|
| A40V | c.119C>T | Exon 4 | 18,564,496 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A157P | c.469G>C | Exon 8 | 18,584,268 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A157V | c.470C>T | Exon 8 | 18,584,269 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.146-1G>A | Intron 4 | 18,575,353 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2151A>G | Exon 14 | 18,609,569 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C30Y | c.89G>A | Exon 3 | 18,510,844 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C152R | c.454T>C | Exon 7 | 18,581,941 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D193G | c.578A>G | Exon 9 | 18,587,977 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D193V | c.578A>T | Exon 9 | 18,587,977 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E74X | c.220G>T | Exon 5 | 18,575,428 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E416Vfs*2 | c.1247_1248del | Exon 12 | 18,604,168 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F13S | c.38T>C | Exon 2 | 18,507,134 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G20V | c.59G>T | Exon 2 | 18,507,155 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G22E | c.65G>A | Exon 3 | 18,510,820 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H124Qfs*2 | c.372_385del | Exon 6 | 18,579,935 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I72T | c.215T>C | Exon 5 | 18,575,423 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L97P | c.290T>C | Exon 6 | 18,579,855 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L182P | c.545T>C | Exon 8 | 18,584,344 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L405Tfs*89 | c.1211_1212dup | Exon 12 | 18,604,131 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N71D | c.211A>G | Exon 5 | 18,575,419 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q219P | c.656A>C | Exon 9 | 18,588,055 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q219R | c.656A>G | Exon 9 | 18,588,055 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q834X | c.2500C>T | Exon 18 | 18,628,374 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q929X | c.2785C>T | Exon 18 | 18,628,659 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R178Q | c.533G>A | Exon 8 | 18,584,332 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R948X | c.2842C>T | Exon 18 | 18,628,716 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S438Qfs*25 | c.1311dup | Exon 12 | 18,604,234 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T288R | c.863C>G | Exon 11 | 18,598,499 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| V718M | c.2152G>A | Exon 14 | 18,609,570 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y24C | c.71A>G | Exon 3 | 18,510,826 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y117X | c.351T>A | Exon 6 | 18,579,916 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y171X | c.513C>A | Exon 8 | 18,584,312 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y941Ifs*12 | c.2821del | Exon 18 | 18,628,694 | Pathogenic | 3 stars out of 4 reviewed by expert panel |