Links from MedGen
Items: 4
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr14:50050397
- GRCh38:
- Chr14:49583679
| RPS29 | | not provided, Diamond-Blackfan anemia 13 | Benign/Likely benign
(Sep 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:50052773
- GRCh38:
- Chr14:49586055
| RPS29 | | not provided, Diamond-Blackfan anemia 13 | Uncertain significance
(Aug 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:50052681
- GRCh38:
- Chr14:49585963
| RPS29 | I50T, I47T | Diamond-Blackfan anemia 13 | Likely pathogenic
(Jun 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr14:50052739
- GRCh38:
- Chr14:49586021
| RPS29 | I31F, I28F | Diamond-Blackfan anemia 13 | Pathogenic
(Jul 3, 2014) | no assertion criteria provided |