| - GRCh37:
- Chr20:4680502
- GRCh38:
- Chr20:4699856
| PRNP | | Inherited Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome, Kuru, susceptibility to,
Spongiform encephalopathy with neuropsychiatric features, Fatal familial insomnia, Huntington disease-like 1,
Huntington disease-like 1 | Likely benign
(Sep 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:4680309
- GRCh38:
- Chr20:4699663
| PRNP | R148H | Inherited Creutzfeldt-Jakob disease, Huntington disease-like 1 | Likely pathogenic
(Aug 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:4680364
- GRCh38:
- Chr20:4699718
| PRNP | M166I | Huntington disease-like 1, Inherited Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome,
Fatal familial insomnia, Huntington disease-like 1, Kuru, susceptibility to,
Spongiform encephalopathy with neuropsychiatric features | Uncertain significance
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:4680172
- GRCh38:
- Chr20:4699526
| PRNP | E73K | not provided, Fatal familial insomnia, Huntington disease-like 1,
Inherited Creutzfeldt-Jakob disease, Kuru, susceptibility to, Gerstmann-Straussler-Scheinker syndrome,
Spongiform encephalopathy with neuropsychiatric features, Huntington disease-like 1 | Benign/Likely benign
(Jul 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:4680743
- GRCh38:
- Chr20:4700097
| PRNP | | Inherited Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome, Fatal familial insomnia,
Huntington disease-like 1, Spongiform encephalopathy with neuropsychiatric features, Kuru, susceptibility to,
Inherited prion disease | Uncertain significance
(Oct 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:4680025
- GRCh38:
- Chr20:4699379
| PRNP | R24W | Inherited Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome, Fatal familial insomnia,
Huntington disease-like 1, Spongiform encephalopathy with neuropsychiatric features, Kuru, susceptibility to,
Huntington disease-like 1, Inherited prion disease | Benign/Likely benign
(Jul 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:4680497
- GRCh38:
- Chr20:4699851
| PRNP | E211Q | Inherited Creutzfeldt-Jakob disease | Pathogenic
(Dec 15, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr20:4680026-4680049
- GRCh38:
- Chr20:4699380-4699403
| PRNP | | Inherited Creutzfeldt-Jakob disease, Fatal familial insomnia, Huntington disease-like 1,
Spongiform encephalopathy with neuropsychiatric features, Kuru, susceptibility to, Gerstmann-Straussler-Scheinker syndrome,
not provided, Huntington disease-like 1 | Likely benign
(May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:4680489
- GRCh38:
- Chr20:4699843
| PRNP | R208H | PRNP-Related Disorders, not provided, Huntington disease-like 1
| Pathogenic/Likely pathogenic
(Mar 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:4680561
- GRCh38:
- Chr20:4699915
| PRNP | M232R | Spongiform encephalopathy with neuropsychiatric features, Huntington disease-like 1, Fatal familial insomnia,
Gerstmann-Straussler-Scheinker syndrome, Kuru, susceptibility to, Inherited Creutzfeldt-Jakob disease,
Huntington disease-like 1 | Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:4680404
- GRCh38:
- Chr20:4699758
| PRNP | V180I | Huntington disease-like 1, Gerstmann-Straussler-Scheinker syndrome, Inherited Creutzfeldt-Jakob disease,
Fatal familial insomnia, Spongiform encephalopathy with neuropsychiatric features, Kuru, susceptibility to,
Inherited prion disease, Inherited Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome,
Huntington disease-like 1 | Pathogenic/Likely pathogenic/Pathogenic, low penetrance
(Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:4680494
- GRCh38:
- Chr20:4699848
| PRNP | V210I | Spongiform encephalopathy with neuropsychiatric features, Huntington disease-like 1, Fatal familial insomnia,
Gerstmann-Straussler-Scheinker syndrome, Kuru, susceptibility to, Inherited Creutzfeldt-Jakob disease,
Huntington disease-like 1 | Likely pathogenic/Pathogenic, low penetrance
(Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:4680251
- Chr20:4680398
- GRCh38:
- Chr20:4699605
- Chr20:4699752
| PRNP, PRNP | M129V, D178N | Inherited Creutzfeldt-Jakob disease, Fatal familial insomnia | Pathogenic
(Nov 26, 2008) | no assertion criteria provided |
| - GRCh37:
- Chr20:4680464
- GRCh38:
- Chr20:4699818
| PRNP | E200K | not provided, Huntington disease-like 1 | Pathogenic
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:4680251
- GRCh38:
- Chr20:4699605
| PRNP | M129V | Spongiform encephalopathy with neuropsychiatric features, Huntington disease-like 1, Gerstmann-Straussler-Scheinker syndrome,
Inherited Creutzfeldt-Jakob disease, Fatal familial insomnia, Kuru, susceptibility to,
not provided, Inherited prion disease, Huntington disease-like 1,
Inherited Creutzfeldt-Jakob disease | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:4680171
- GRCh38:
- Chr20:4699525
| PRNP | P102L | not provided, Huntington disease-like 1, Spongiform encephalopathy with neuropsychiatric features,
Inherited Creutzfeldt-Jakob disease | Pathogenic
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:4680026-4680049
- GRCh38:
- Chr20:4699379-4699380
| PRNP | | Inherited prion disease, Gerstmann-Straussler-Scheinker syndrome, Huntington disease-like 1,
Inherited Creutzfeldt-Jakob disease | Pathogenic
(Dec 18, 2008) | no assertion criteria provided |