| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Abdominal distention +8 more | |
| | | Deletion (inframe_indel) | Dysphagia +5 more | |
| | | Single nucleotide variant (missense variant) | Bilateral sensorineural hearing impairment +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Frequent falls +3 more | |
Click to view in NCBI Gene