| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Myopathy, autophagic vacuolar, infantile-onset +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | GNE myopathy +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene