Links from MedGen
Items: 5
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr3:121975951
- GRCh38:
- Chr3:122257104
| CASR | W70* | Familial hypocalciuric hypercalcemia, Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
| Pathogenic
(Oct 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:121973121
- GRCh38:
- Chr3:122254274
| CASR | K29E | Bartter syndrome with hypocalcemia | Pathogenic
(Jul 1, 2006) | no assertion criteria provided |
| - GRCh37:
- Chr3:121976116
- GRCh38:
- Chr3:122257269
| CASR | L125P | Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia 1, Neonatal severe primary hyperparathyroidism,
Epilepsy, idiopathic generalized, susceptibility to, 8, Autosomal dominant hypocalcemia 1, not provided
| Pathogenic/Likely pathogenic
(Nov 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:121976135
- GRCh38:
- Chr3:122257288
| CASR | C131W | Bartter syndrome with hypocalcemia | Pathogenic
(Aug 31, 2002) | no assertion criteria provided |
| - GRCh37:
- Chr3:122003329
- GRCh38:
- Chr3:122284482
| CASR | A843E, A853E | Autosomal dominant hypocalcemia 1 | Likely pathogenic | criteria provided, single submitter |