Links from MedGen
Items: 7
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr9:71652200-71652201
- GRCh38:
- Chr9:69037284-69037285
| FXN, LOC108510657 | | Friedreich ataxia 1 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr9:71661296
- GRCh38:
- Chr9:69046380
| FXN | | Friedreich ataxia 1 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr9:71650844
- GRCh38:
- Chr9:69035928
| FXN | T49N | Inborn genetic diseases, Friedreich ataxia 1 | Uncertain significance
(Nov 10, 2022) | criteria provided, multiple submitters, no conflicts |
| | FXN | | Friedreich ataxia 1 | Likely benign
(Dec 20, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr9:71679907
- GRCh38:
- Chr9:69064991
| FXN | N146K | Friedreich ataxia 1 | Pathogenic
(Apr 25, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr9:71650752
- GRCh38:
- Chr9:69035836
| FXN | | Inborn genetic diseases, not specified, not provided,
Friedreich ataxia 1 | Benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:71668163-71668168
- GRCh38:
- Chr9:69053247-69053252
| FXN | | Friedreich ataxia 1 | Pathogenic
(Nov 1, 2011) | no assertion criteria provided |