Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr7:128845127
- GRCh38:
- Chr7:129205286
| SMO | | Curry-Jones syndrome, Basal cell carcinoma, susceptibility to, 1, Hamartoma of hypothalamus,
not provided | Benign/Likely benign
(May 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:128846398
- GRCh38:
- Chr7:129206557
| SMO | L412F | Curry-Jones syndrome | Pathogenic
(Mar 22, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128852105
- GRCh38:
- Chr7:129212264
| SMO | R726Q | Curry-Jones syndrome | Uncertain significance
(May 28, 2019) | criteria provided, single submitter |