| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 14 +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | CEP290-Related Disorders +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 5 +13 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 1 +10 more | |
| | | Duplication (frameshift variant) | not provided +9 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Familial aplasia of the vermis +10 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +11 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene