| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Asphyxiating thoracic dystrophy 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 12 +3 more | |
| | TTC21B-AS1, TTC21B (P209L) | Single nucleotide variant (missense variant) | not provided +8 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene