| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR 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 | |
| | | 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 | |
| | | Single nucleotide variant (nonsense) | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency +1 more | GPathogenic/Likely pathogenic |
| | | 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 +1 more | GConflicting classifications of pathogenicity |
| | | 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 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | |
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