| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | IFT80, TRIM59-IFT80 (R582H +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Jeune thoracic dystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Asphyxiating thoracic dystrophy 2 +2 more | |
| | IFT80, TRIM59-IFT80 (T586S +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | Connective tissue disorder +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene