Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Dystonia 12 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental delay +13 more | |
| | | Single nucleotide variant (missense variant) | Alternating hemiplegia of childhood 2 +5 more | |
Click to view in NCBI Gene