Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Muscle weakness +13 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +18 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neurogenic bladder +4 more | |
Click to view in NCBI Gene