| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Bruck syndrome 2 | |
| | | Single nucleotide variant (nonsense) | Femoral bowing +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Bruck syndrome 2 | |
Click to view in NCBI Gene