Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Atrial septal defect +14 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | Microcephaly +4 more | |
| | | Translocation | Abnormal facial skeleton morphology +10 more | |
| | | Single nucleotide variant (nonsense) | Dysphagia +12 more | |
Click to view in NCBI Gene