Links from MedGen
Items: 5
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr14:92537354-92537355
- GRCh38:
- Chr14:92071010-92071011
| ATXN3, LOC108663987 | | Azorean disease | Benign
(Nov 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:92537382-92537384
- GRCh38:
- Chr14:92071038-92071040
| LOC108663987, ATXN3 | | Azorean disease | Pathogenic
(Sep 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr14:92537382-92537384
- GRCh38:
- Chr14:92071038-92071040
| ATXN3, LOC108663987 | | Azorean disease | Benign
(Sep 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr14:92537354
- GRCh38:
- Chr14:92071010
| ATXN3 | G306R, G127R, G185R, G23A, G251R, G78A, G93A, G236R, G255R, G38A, G144A, G291R | not specified | Likely benign | no assertion criteria provided |
| - GRCh37:
- Chr14:92537355-92537357
- GRCh38:
- Chr14:92071011-92071013
| ATXN3, LOC108663987 | | Parkinson disease, late-onset, Azorean disease | Pathogenic; risk factor
(Nov 1, 1994) | no assertion criteria provided |