Links from MedGen
Items: 5
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr19:8386998
- GRCh38:
- Chr19:8322114
| RPS28 | | not provided, Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | Benign
(Nov 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:56436207
- GRCh38:
- Chr12:56042423
| RPS26 | | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | Pathogenic
(May 19, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr12:56437224
- GRCh38:
- Chr12:56043440
| RPS26 | R87* | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis, Congenital hypoplastic anemia, Diamond-Blackfan anemia 10
| Pathogenic
(Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:8386415
- GRCh38:
- Chr19:8321531
| RPS28 | M1V | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | Pathogenic
(Jun 8, 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 |