| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 3 +3 more | |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 3 | |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 3 | |
| | | Single nucleotide variant (nonsense) | Jeune thoracic dystrophy +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene