| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (nonsense) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Deletion | Microcephalic osteodysplastic primordial dwarfism type II | |
Click to view in NCBI Gene