| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 2 +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Polyglucosan body myopathy type 2 +2 more | |
Click to view in NCBI Gene