| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever, autosomal dominant +24 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Proximal placement of thumb +22 more | |
Click to view in NCBI Gene