| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bone marrow failure syndrome 3 +3 more | |
| | | Deletion (frameshift variant) | Shwachman-Diamond syndrome 1 +2 more | |
Click to view in NCBI Gene