| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Meckel syndrome, type 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 28 +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene