| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Joubert syndrome and related disorders +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | COACH syndrome 1 +9 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +7 more | |
Click to view in NCBI Gene