| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Shwachman-Diamond syndrome 1 +3 more | |
| | | Single nucleotide variant (splice donor variant) | not specified +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
Click to view in NCBI Gene