| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant mitochondrial myopathy with exercise intolerance +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Lower motor neuron syndrome with late-adult onset +3 more | |
Click to view in NCBI Gene