Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Spinocerebellar atrophy | |
| | | Single nucleotide variant (missense variant) | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Parkinson disease +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene