| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126862385, WWP2 (R339C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862385, WWP2 (N236S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Spondyloepiphyseal dysplasia, nishimura type +1 more | |
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