| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | SERAC1-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | |
Click to view in NCBI Gene