Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Epicanthus +3 more | |
| | | Single nucleotide variant (missense variant) | Congenital laryngomalacia +14 more | |
| | | Translocation | Intention tremor +29 more | |
| | | Translocation | Corpus callosum, agenesis of +24 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +8 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene