| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | IFT172, LOC126806174 (S924A) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Short-rib thoracic dysplasia 10 with or without polydactyly +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (splice donor variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene