| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Enchondromatosis +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene