| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (intron variant) | TRAPPC2-related disorder +2 more | GConflicting classifications of pathogenicity |
| | OFD1, TRAPPC2 (F109fs +1 more) | Deletion (frameshift variant) | Spondyloepiphyseal dysplasia tarda, X-linked | |
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