| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Spondylo-megaepiphyseal-metaphyseal dysplasia | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Spondylo-megaepiphyseal-metaphyseal dysplasia | |
| | | Indel (frameshift variant) | Spondylo-megaepiphyseal-metaphyseal dysplasia | |
| | | Microsatellite (frameshift variant) | not provided +1 more | |
Click to view in NCBI Gene