Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr11:94532835
- GRCh38:
- Chr11:94799669
| AMOTL1 | P110L, P160L | not provided, Cleft lip/palate, Abnormal pinna morphology,
Tethered cord, Long fingers, imperforate anus with fistula,
Hypertelorism | Conflicting interpretations of pathogenicity
(Nov 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:140476806
- GRCh38:
- Chr7:140777006
| BRAF | G534R, G446R, G500R, G512R, G537R, G574R, G482R, G497R | Cardio-facio-cutaneous syndrome, Inborn genetic diseases, Cardiofaciocutaneous syndrome 1
| Pathogenic/Likely pathogenic
(Oct 2, 2021) | criteria provided, multiple submitters, no conflicts |