| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Unverricht-Lundborg syndrome +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene