| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Gerstmann-Straussler-Scheinker syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Gerstmann-Straussler-Scheinker syndrome +6 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance |
Click to view in NCBI Gene