| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 2 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease XV +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
Click to view in NCBI Gene