| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Spondyloepiphyseal dysplasia tarda | |
| | | Deletion (frameshift variant) | Spondyloepiphyseal dysplasia tarda | |
| | | Single nucleotide variant (nonsense) | Spondyloepiphyseal dysplasia tarda | |
| | OFD1, TRAPPC2 (Q125fs +1 more) | Deletion (frameshift variant) | not provided +1 more | |
| | OFD1, TRAPPC2 (F83S +1 more) | Single nucleotide variant (missense variant) | Connective tissue disorder | |
| | | Deletion (intron variant) | Spondyloepiphyseal dysplasia tarda | |
| | | Single nucleotide variant (intron variant) | Spondyloepiphyseal dysplasia tarda | |
| | OFD1, TRAPPC2 (V64fs +1 more) | Microsatellite (frameshift variant) | not provided | |
| | OFD1, TRAPPC2 (M53fs +1 more) | Deletion (frameshift variant) | Spondyloepiphyseal dysplasia tarda | |
| | | Single nucleotide variant (intron variant) | Spondyloepiphyseal dysplasia tarda, X-linked +2 more | |
| | | Deletion (nonsense) | Spondyloepiphyseal dysplasia tarda | |
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