| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Guo-Campeau type | |
| | | Duplication (frameshift variant) | Acromesomelic dysplasia 4 | |
| | | Single nucleotide variant (nonsense) | Acromesomelic dysplasia 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type 1 | |
| | | Single nucleotide variant (nonsense +1 more) | EYA1-related disorder +4 more | |
Click to view in NCBI Gene