Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (inframe_insertion) | Developmental delay with hypotonia, myopathy, and brain abnormalities | |
| | | Insertion (frameshift variant) | Developmental delay with hypotonia, myopathy, and brain abnormalities | |
| | | Microsatellite (frameshift variant) | Developmental delay with hypotonia, myopathy, and brain abnormalities | |
| | | Single nucleotide variant (nonsense) | Neuromuscular disease | |
Click to view in NCBI Gene