| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome and related disorders | |
| | | Single nucleotide variant (missense variant +1 more) | TMEM231-related condition +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 11 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Meckel syndrome, type 11 +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene