Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Spinocerebellar atrophy | |
| | | Single nucleotide variant (missense variant) | not provided +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Parkinson disease +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene