| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant | Cerebral palsy +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene