Links from MedGen
Items: 4
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr7:31011677
- GRCh38:
- Chr7:30972062
| GHRHR | | not provided, Idiopathic growth hormone deficiency, Isolated growth hormone deficiency type IB
| Benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:31009592
- GRCh38:
- Chr7:30969977
| GHRHR | | not provided, Idiopathic growth hormone deficiency, Isolated growth hormone deficiency type IB
| Benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:31009576
- GRCh38:
- Chr7:30969961
| GHRHR | E121D | not provided, Idiopathic growth hormone deficiency, Isolated growth hormone deficiency type IB
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:31008686
- GRCh38:
- Chr7:30969071
| GHRHR | A57T | not specified, not provided, Idiopathic growth hormone deficiency,
Isolated growth hormone deficiency type IB | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |