| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Type IV short rib polydactyly syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Asphyxiating thoracic dystrophy 5 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 5 +4 more | |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 5 +1 more | |
| | | Single nucleotide variant (nonsense) | Jeune thoracic dystrophy | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Asphyxiating thoracic dystrophy 5 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Connective tissue disorder +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Jeune thoracic dystrophy | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene