| | LOC130065401, LOC130065402 +348 more | Copy number gain | See cases | |
| | LOC130065344, LOC130065345 +455 more | Copy number gain | See cases | |
| | LOC129456123, LOC130065248 +833 more | Copy number gain | See cases | |
| | LOC112694699, LOC112694712 +306 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC114004355, LOC116286198 +347 more | Copy number gain | See cases | |
| | | Copy number gain | Renal agenesis | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130065324, LOC130065325 +581 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130065322, LOC130065323 +300 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC111240478, LOC111240479 +25 more | Copy number gain | See cases | |
| | | Single nucleotide variant | Inherited prion disease | |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant | Inherited prion disease | |
| | | Single nucleotide variant | Inherited prion disease | |
| | | Single nucleotide variant (5 prime UTR variant) | Inherited prion disease | |
| | | Single nucleotide variant (5 prime UTR variant) | Inherited prion disease | |
| | | Single nucleotide variant (5 prime UTR variant) | Inherited prion disease | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inherited prion disease +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Huntington disease-like 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Huntington disease-like 1 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Huntington disease-like 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Huntington disease-like 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Huntington disease-like 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Inherited prion disease | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Huntington disease-like 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inherited prion disease +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Huntington disease-like 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Huntington disease-like 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Huntington disease-like 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Inherited prion disease +1 more | |
| | | Microsatellite (inframe insertion) | not provided | |
| | | Microsatellite (inframe_insertion) | Huntington disease-like 1 | |
| | | Microsatellite (inframe_insertion) | PRNP-associated condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +7 more | |
| | | Microsatellite | Inherited prion disease +3 more | |
| | | Deletion (inframe_deletion) | Huntington disease-like 1 | |
| | | Single nucleotide variant (missense variant) | Huntington disease-like 1 +2 more | |
| | | Microsatellite (inframe_deletion) | Inherited Creutzfeldt-Jakob disease +6 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Spongiform encephalopathy with neuropsychiatric features | |
| | | Single nucleotide variant (synonymous variant +1 more) | Spongiform encephalopathy with neuropsychiatric features | |
| | | Single nucleotide variant (synonymous variant +1 more) | Huntington disease-like 1 +2 more | |
| | | Deletion (inframe_deletion) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Gerstmann-Straussler-Scheinker syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (inframe_deletion) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +3 more | |
| | | Deletion (inframe_deletion) | Huntington disease-like 1 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Huntington disease-like 1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Huntington disease-like 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inherited Creutzfeldt-Jakob disease +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Spongiform encephalopathy with neuropsychiatric features | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Huntington disease-like 1 | |
| | | Inversion (missense variant +1 more) | Huntington disease-like 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inherited prion disease +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Huntington disease-like 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inherited prion disease +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Kuru, protection against | |
| | | Inversion (missense variant +1 more) | Huntington disease-like 1 | |
| | | 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) | Gerstmann-Straussler-Scheinker syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Huntington disease-like 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | Huntington disease-like 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Gerstmann-Straussler-Scheinker syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Huntington disease-like 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Huntington disease-like 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Huntington disease-like 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Huntington disease-like 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Huntington disease-like 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED | |
| | | Single nucleotide variant (synonymous variant +1 more) | Huntington disease-like 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Inherited Creutzfeldt-Jakob disease +1 more | |
| | | Duplication (nonsense +1 more) | Huntington disease-like 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Huntington disease-like 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Huntington disease-like 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Huntington disease-like 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Huntington disease-like 1 | |