| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | IFT80, TRIM59-IFT80 (A701P +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Jeune thoracic dystrophy +2 more | GConflicting classifications of pathogenicity |
| | IFT80, TRIM59-IFT80 (R472H +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Asphyxiating thoracic dystrophy 2 +2 more | |
| | | Deletion (splice acceptor variant) | Asphyxiating thoracic dystrophy 2 | |
| | | Single nucleotide variant (splice acceptor variant) | Asphyxiating thoracic dystrophy 2 +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene