| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Ethylmalonic encephalopathy +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant +2 more) | Ethylmalonic encephalopathy | |
Click to view in NCBI Gene