| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | 3M syndrome 1 | |
| | | Single nucleotide variant (missense variant) | 3M syndrome 1 | |
| | | Single nucleotide variant (splice donor variant) | 3M syndrome 1 | |
| | | Microsatellite (frameshift variant) | 3M syndrome 1 | |
| | | Insertion (frameshift variant) | 3M syndrome 1 | |
Click to view in NCBI Gene