| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron 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 (intron variant) | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency +1 more | |
| | | 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 +3 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 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency +2 more | |
Click to view in NCBI Gene