| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice acceptor variant) | Otospondylomegaepiphyseal dysplasia, autosomal recessive | |
| | | Single nucleotide variant (nonsense) | Otospondylomegaepiphyseal dysplasia, autosomal recessive | |
| | | Duplication (frameshift variant +1 more) | Short long bone +8 more | GPathogenic/Likely pathogenic |
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