| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion | Meckel syndrome, type 9 | |
| | | Microsatellite (3 prime UTR variant +2 more) | Joubert syndrome 27 | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +3 more | |
| | | Single nucleotide variant (splice donor variant) | Joubert syndrome 27 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene