Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number loss | Intracranial hemorrhage | |
| | | Single nucleotide variant (missense variant) | Ventricular septal defect +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Brain small vessel disease 1 with or without ocular anomalies +3 more | |
Click to view in NCBI Gene