| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 6 | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 9 | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 6 | |
Click to view in NCBI Gene