| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant +1 more) | Bardet-Biedl syndrome 14 +7 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +1 more) | Meckel-Gruber syndrome +8 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +1 more) | Leber congenital amaurosis 10 +8 more | |
| | | Single nucleotide variant (nonsense +1 more) | Senior-Loken syndrome 6 +7 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion +1 more) | Bardet-Biedl syndrome 14 +8 more | |
| | | Duplication (nonsense +1 more) | Familial aplasia of the vermis +7 more | GPathogenic/Likely pathogenic |
| | | Duplication (nonsense +1 more) | Meckel-Gruber syndrome +7 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Leber congenital amaurosis 10 +7 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene