| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Polyglucosan body myopathy type 1 +1 more | |
| | | Microsatellite (frameshift variant +1 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polyglucosan body myopathy type 1 | |
Click to view in NCBI Gene