| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Bowing of the long bones +11 more | GConflicting classifications of pathogenicity |
| | LOC129389144, PLOD2 (F118fs) | Duplication (frameshift variant) | Bruck syndrome 2 | |
Click to view in NCBI Gene