Links from Orgtrack
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Brain small vessel disease 1 with or without ocular anomalies | |
| | | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia | |
| | | Duplication (frameshift variant) | Primary ciliary dyskinesia 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Cardiofaciocutaneous syndrome 2 +3 more | |
Click to view in NCBI Gene