| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Meckel syndrome, type 11 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Joubert syndrome 20 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 11 +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene