| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Autoinflammatory syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Porokeratosis 3, disseminated superficial actinic type +4 more | |
| | | Single nucleotide variant (missense variant) | MVK-related disorder +7 more | |
| | | Single nucleotide variant (missense variant) | Porokeratosis 3, disseminated superficial actinic type +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | MVK-related disorder +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Mevalonic aciduria +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene