| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Mevalonic aciduria +6 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hyperimmunoglobulin D with periodic fever +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mevalonic aciduria +6 more | |
| | | Single nucleotide variant (synonymous variant) | Porokeratosis 3, disseminated superficial actinic type +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene