| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Copy number loss | not provided | |
Click to view in NCBI Gene