| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia, Kimberley type +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepimetaphyseal dysplasia, aggrecan type +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Spondyloepiphyseal dysplasia, Kimberley type +3 more | |
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