| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129935846, PDE6D (E10D) | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 22 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 22 | |
| | | Single nucleotide variant (nonsense +1 more) | Joubert syndrome 22 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 22 | |
Click to view in NCBI Gene