| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | SLC26A2-Related Disorders +7 more | |
| | | Single nucleotide variant (nonsense) | Multiple epiphyseal dysplasia type 4 +7 more | |
| | | Single nucleotide variant (missense variant) | 3MC syndrome 2 +10 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion) | Diastrophic dysplasia +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | 3MC syndrome 2 +8 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene