| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | |
| | | Single nucleotide variant (missense variant) | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | |
| | | Microsatellite (frameshift variant) | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | |
Click to view in NCBI Gene