| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (nonsense) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (intron variant) | L-2-hydroxyglutaric aciduria | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene