| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +3 more | |
| | IFT172, LOC126806173 (R1284*) | Single nucleotide variant (nonsense) | Retinal dystrophy +2 more | GPathogenic/Likely pathogenic |
| | IFT172, LOC126806173 (L1260V) | Single nucleotide variant (missense variant) | Retinal dystrophy +3 more | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +5 more | |
Click to view in NCBI Gene