| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC108021846, SOX9 (R120G) | Single nucleotide variant (missense variant) | Bent bone dysplasia | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided | |
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