| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Meckel syndrome, type 4 +4 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Retinal dystrophy +10 more | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +5 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene