| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Joubert syndrome 5 +1 more | |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +13 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | CEP290-related disorder +14 more | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +12 more | GPathogenic/Likely pathogenic |
| | | Deletion (nonsense) | Joubert syndrome 5 | |
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