| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Limb undergrowth +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Focal-onset seizure +10 more | |
| | | Single nucleotide variant (missense variant +1 more) | MEFV-related disorder +24 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene