| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Type IV short rib polydactyly syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 4 +3 more | |
| | | Single nucleotide variant (nonsense) | Nephronophthisis +1 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy +2 more | |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy | |
| | | Deletion (frameshift variant) | Asphyxiating thoracic dystrophy 4 +4 more | GPathogenic/Likely pathogenic |
| | TTC21B, TTC21B-AS1 (A235P) | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | GPathogenic/Likely pathogenic |
| | | Insertion (nonsense) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
Click to view in NCBI Gene