| - GRCh37:
- Chr20:4680072
- GRCh38:
- Chr20:4699426
| PRNP | H69L | Gerstmann-Straussler-Scheinker syndrome | Uncertain significance
(Sep 1, 2022) | criteria provided, single submitter |
| - 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:
- Chr20:4680364
- 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:
- Chr20:4680258
- GRCh38:
- Chr20:4699612
| PRNP | G131E | Gerstmann-Straussler-Scheinker syndrome | Likely pathogenic
(Jul 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr20:4680172
- GRCh38:
- Chr20:4699526
| PRNP | E73K | Inherited Creutzfeldt-Jakob disease, Spongiform encephalopathy with neuropsychiatric features, Kuru, susceptibility to,
Gerstmann-Straussler-Scheinker syndrome, Fatal familial insomnia, Huntington disease-like 1,
not provided, Huntington disease-like 1 | Benign/Likely benign
(Jul 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:4680743
- GRCh38:
- Chr20:4700097
| PRNP | | Inherited prion disease, Kuru, susceptibility to, Huntington disease-like 1,
Gerstmann-Straussler-Scheinker syndrome, Inherited Creutzfeldt-Jakob disease, Spongiform encephalopathy with neuropsychiatric features,
Fatal familial insomnia | Uncertain significance
(Oct 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:4680025
- GRCh38:
- Chr20:4699379
| PRNP | R24W | Inherited prion disease, Kuru, susceptibility to, Huntington disease-like 1,
Gerstmann-Straussler-Scheinker syndrome, Inherited Creutzfeldt-Jakob disease, Spongiform encephalopathy with neuropsychiatric features,
Fatal familial insomnia, Huntington disease-like 1 | Benign/Likely benign
(Jul 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:4680545
- GRCh38:
- Chr20:4699899
| PRNP | Q227* | Gerstmann-Straussler-Scheinker syndrome | Pathogenic
(Feb 1, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr20:4680499
- GRCh38:
- Chr20:4699853
| PRNP | E211D | Huntington disease-like 1 | Uncertain significance
(Oct 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr20:4680026-4680049
- GRCh38:
- Chr20:4699380-4699403
| PRNP | | Gerstmann-Straussler-Scheinker syndrome, Huntington disease-like 1, Kuru, susceptibility to,
Spongiform encephalopathy with neuropsychiatric features, Inherited Creutzfeldt-Jakob disease, Fatal familial insomnia,
not provided, Huntington disease-like 1 | Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:4680179
- GRCh38:
- Chr20:4699533
| PRNP | P105S | not provided | Uncertain significance
(Feb 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr20:4680264
- GRCh38:
- Chr20:4699618
| PRNP | A133V | Gerstmann-Straussler-Scheinker syndrome | Pathogenic
(Mar 13, 2007) | no assertion criteria provided |
| - GRCh37:
- Chr20:4680426
- GRCh38:
- Chr20:4699780
| PRNP | H187R | Spongiform encephalopathy with neuropsychiatric features, Gerstmann-Straussler-Scheinker syndrome | Pathogenic
(Apr 12, 2005) | no assertion criteria provided |
| - GRCh37:
- Chr20:4680258
- GRCh38:
- Chr20:4699612
| PRNP | G131V | Gerstmann-Straussler-Scheinker syndrome, Huntington disease-like 1 | Conflicting interpretations of pathogenicity
(Mar 21, 2023) | criteria provided, conflicting interpretations |
| - 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 | Fatal familial insomnia, Gerstmann-Straussler-Scheinker syndrome, Kuru, susceptibility to,
Spongiform encephalopathy with neuropsychiatric features, Huntington disease-like 1, Inherited Creutzfeldt-Jakob disease,
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:
- Chr20:4680180
- GRCh38:
- Chr20:4699534
| PRNP | P105L | Inborn genetic diseases | Pathogenic
(Apr 2, 2013) | criteria provided, single submitter |
| - 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:
- Chr20:4680516
- GRCh38:
- Chr20:4699870
| PRNP | Q217R | Huntington disease-like 1 | Likely pathogenic
(Oct 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr20:4680459
- GRCh38:
- Chr20:4699813
| PRNP | F198S | not provided, Huntington disease-like 1 | Pathogenic
(Dec 14, 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:
- Chr20:4680251
- GRCh38:
- Chr20:4699605
| PRNP | M129V | Kuru, susceptibility to, Spongiform encephalopathy with neuropsychiatric features, Gerstmann-Straussler-Scheinker syndrome,
Huntington disease-like 1, Inherited Creutzfeldt-Jakob disease, Fatal familial insomnia,
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:
- Chr20:4680216
- GRCh38:
- Chr20:4699570
| PRNP | A117V | Inborn genetic diseases | Pathogenic
(Oct 2, 2017) | criteria provided, single submitter |
| - 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 | | Huntington disease-like 1, Inherited prion disease, Inherited Creutzfeldt-Jakob disease,
Gerstmann-Straussler-Scheinker syndrome | Pathogenic
(Dec 18, 2008) | no assertion criteria provided |