| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Spondyloepimetaphyseal dysplasia, Isidor-Toutain type | |
| | | Single nucleotide variant (splice donor variant) | Spondyloepimetaphyseal dysplasia, Isidor-Toutain type | |
| | | Single nucleotide variant (splice donor variant) | Spondyloepimetaphyseal dysplasia, Isidor-Toutain type +1 more | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia | |
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