| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Aplastic anemia +1 more | |
| | | Microsatellite (frameshift variant) | Shwachman-Diamond syndrome 1 | |
| | | Single nucleotide variant (splice donor variant) | Splenomegaly +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Intellectual disability +8 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene