Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- ChrX:54469894
- GRCh38:
- ChrX:54443461
| TSR2 | | not provided, Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:54469851
- GRCh38:
- ChrX:54443418
| TSR2 | E64G | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | Pathogenic
(May 19, 2015) | criteria provided, single submitter |