| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Severe global developmental delay +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Lafora disease | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +6 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene