| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (missense variant) | Spondylometaphyseal dysplasia, Kozlowski type +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene