| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant +2 more) | Diamond-Blackfan anemia +1 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Diamond-Blackfan anemia 6 | |
| | | Deletion (frameshift variant +2 more) | Diamond-Blackfan anemia 6 | |
| | | Duplication (frameshift variant +2 more) | Diamond-Blackfan anemia 6 | |
Click to view in NCBI Gene