| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC107652445, SHOX (R121P) | Single nucleotide variant (missense variant) | not provided | |
| | LOC107652445, SHOX (M146T) | Single nucleotide variant (missense variant) | not provided | |
| | LOC107652445, SHOX (R147H) | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
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