| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant +1 more) | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | |
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