Variants
JAK3 variants
The 17 JAK3 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.862-2A>G | 17,841,764 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1701+1G>A | 17,837,931 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1914G>T | 17,835,924 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2680+89G>A | 17,832,430 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C193Y | c.578G>A | 17,842,599 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C227Pfs*49 | c.678_679del | 17,842,497 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C565X | c.1695C>A | 17,837,938 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D784N | c.2350G>A | 17,834,571 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G589S | c.1765G>A | 17,837,150 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K59X | c.175A>T | 17,844,243 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R350W | c.1048C>T | 17,841,483 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R403H | c.1208G>A | 17,840,276 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R445X | c.1333C>T | 17,839,585 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R451X | c.1351C>T | 17,839,567 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R582W | c.1744C>T | 17,837,171 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R613X | c.1837C>T | 17,836,001 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R771X | c.2311C>T | 17,834,610 | Pathogenic | 3 stars out of 4 reviewed by expert panel |