| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Trichorhinophalangeal dysplasia type I | |
| | | Single nucleotide variant (missense variant) | Trichorhinophalangeal syndrome type I or III | |
| | | Single nucleotide variant (missense variant) | Trichorhinophalangeal syndrome type I or III | |
| | | Microsatellite (inframe_deletion) | Trichorhinophalangeal dysplasia type I | |
| | | Single nucleotide variant (nonsense) | TRPS1-related disorder +2 more | |
Click to view in NCBI Gene