| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | LOC107652445, SHOX (E133Q) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Leri-Weill dyschondrosteosis +1 more | |
| | | Insertion (frameshift variant) | not provided | |
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