| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | MMAB-related condition +5 more | |
| | | Single nucleotide variant (missense variant) | Autoinflammatory syndrome +7 more | |
| | | Single nucleotide variant (missense variant) | Mevalonic aciduria +4 more | |
| | | Single nucleotide variant (missense variant) | Hyperimmunoglobulin D with periodic fever +8 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene