| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Atelosteogenesis type II +7 more | |
| | | Deletion (frameshift variant) | Achondrogenesis, type IB +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Diastrophic dysplasia +7 more | |
| | | Single nucleotide variant (missense variant) | Atelosteogenesis type II +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Diastrophic dysplasia +10 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion) | Atelosteogenesis type II +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Multiple epiphyseal dysplasia type 4 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Atelosteogenesis type II +4 more | |
| | | Deletion (frameshift variant) | Connective tissue disorder +5 more | |
| | | Single nucleotide variant (missense variant) | Sulfate transporter-related osteochondrodysplasia +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Osteochondrodysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis, type IB +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene