| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | 3MC syndrome 2 | |
| | | Single nucleotide variant (splice donor variant) | Atelosteogenesis type II +7 more | |
| | | Single nucleotide variant (nonsense) | Diastrophic dysplasia +7 more | |
| | | Single nucleotide variant (missense variant) | not specified +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Sulfate transporter-related osteochondrodysplasia +8 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene