Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Limb dystonia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Dystonia 12 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 54 +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene