| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Aplastic anemia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Shwachman-Diamond syndrome 1 +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Aplastic anemia +3 more | |
| | | Indel (nonsense) | Shwachman-Diamond syndrome 1 +5 more | |
| | | Single nucleotide variant (missense variant) | Aplastic anemia +2 more | |
Click to view in NCBI Gene