Links from MedGen
Items: 7
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | BAFopathy +15 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | Velopharyngeal insufficiency +8 more | |
| | | Copy number gain | Severe global developmental delay +7 more | |
| | | Single nucleotide variant (nonsense) | Narrow chest +18 more | |
| | | Inversion | Patent ductus arteriosus +22 more | |
| | | Complex | Hydrocele testis +10 more | |
Click to view in NCBI Gene