| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | OFD1, TRAPPC2 (M59T +1 more) | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia tarda | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 23 +4 more | |
Click to view in NCBI Gene