| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Joubert syndrome 17 +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Inborn genetic diseases +2 more | |
| | CPLANE1, LOC129389274 (I1426T) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene