| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Enchondromatosis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | D-2-hydroxyglutaric aciduria 2 +2 more | |
| | | Single nucleotide variant (synonymous variant) | D-2-hydroxyglutaric aciduria 2 +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided +1 more | |
Click to view in NCBI Gene