| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Myopathy, lactic acidosis, and sideroblastic anemia 2 | |
| | | Single nucleotide variant (missense variant) | Myopathy, lactic acidosis, and sideroblastic anemia 2 +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene