| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (splice donor variant) | Diamond-Blackfan anemia +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (intron variant) | Diamond-Blackfan anemia 10 | |
Click to view in NCBI Gene