Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Duplication (frameshift variant) | Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities +4 more | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities +4 more | |
Click to view in NCBI Gene