| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | 3-M syndrome +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | 3M syndrome 1 | |
| | | Microsatellite (inframe_deletion) | 3M syndrome 1 | |
Click to view in NCBI Gene