| | | Single nucleotide variant (missense variant +1 more) | Gerstmann-Straussler-Scheinker syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Huntington disease-like 1 +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Fatal familial insomnia +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Gerstmann-Straussler-Scheinker syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Fatal familial insomnia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Inherited prion disease +7 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +7 more | |
| | | Single nucleotide variant (nonsense +1 more) | Gerstmann-Straussler-Scheinker syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Huntington disease-like 1 | |
| | | Microsatellite (inframe_deletion) | Inherited Creutzfeldt-Jakob disease +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Gerstmann-Straussler-Scheinker syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Spongiform encephalopathy with neuropsychiatric features +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Huntington disease-like 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Huntington disease-like 1 +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Gerstmann-Straussler-Scheinker syndrome +6 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Fatal familial insomnia +6 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance |
| | | Single nucleotide variant (missense variant +1 more) | PRNP-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inherited Creutzfeldt-Jakob disease +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Fatal familial insomnia +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inherited Creutzfeldt-Jakob disease +3 more | |
| | | Microsatellite | Inherited prion disease +3 more | |