| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 | |
Click to view in NCBI Gene