| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | IFT80, TRIM59-IFT80 (L521F +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Jeune thoracic dystrophy | GPathogenic/Likely pathogenic |
| | IFT80, TRIM59-IFT80 (T365A +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Jeune thoracic dystrophy +2 more | GConflicting classifications of pathogenicity |
| | IFT80, TRIM59-IFT80 (G241R +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | TRIM59-IFT80, IFT80 (I191N +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Jeune thoracic dystrophy | GPathogenic/Likely pathogenic |
| | TRIM59-IFT80, IFT80 (L163fs +1 more) | Deletion (non-coding transcript variant +1 more) | Type IV short rib polydactyly syndrome | GPathogenic/Likely pathogenic |
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