Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Anemia +9 more | |
| | | Copy number loss | Velopharyngeal insufficiency +8 more | |
| | | Deletion (nonsense) | Acute intermittent porphyria +5 more | |
| | | Inversion | Hypertelorism +20 more | |
Click to view in NCBI Gene