| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Muscle weakness +5 more | |
| | | Single nucleotide variant (missense variant) | Aspiration pneumonia +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Gastroesophageal reflux +11 more | |
Click to view in NCBI Gene