| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (inframe_deletion) | Camptomelic dysplasia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | SOX9, LOC108021846 (S99fs) | Deletion (frameshift variant) | Campomelic dysplasia with autosomal sex reversal | |
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