Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Abnormal facial shape +14 more | |
| | | Single nucleotide variant (missense variant) | Abnormal facial shape +14 more | |
| | | Deletion (nonsense) | Cornelia de Lange syndrome 1 +9 more | |
| | | Inversion | Multicystic kidney dysplasia +3 more | |
Click to view in NCBI Gene