| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Progressive pseudorheumatoid dysplasia | |
| | | Single nucleotide variant (nonsense +1 more) | See cases +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Progressive pseudorheumatoid dysplasia +1 more | |
| | | Microsatellite (frameshift variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene