| | | Deletion | Porokeratosis 3, disseminated superficial actinic type | |
| | | Deletion (frameshift variant) | Mevalonic aciduria | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Duplication (frameshift variant) | Porokeratosis 3, disseminated superficial actinic type +2 more | |
| | | Single nucleotide variant (missense variant) | Porokeratosis 3, disseminated superficial actinic type | |
| | | Single nucleotide variant (missense variant) | See cases +4 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | Hyperimmunoglobulin D with periodic fever | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperimmunoglobulin D with periodic fever +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperimmunoglobulin D with periodic fever +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Mevalonic aciduria +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Porokeratosis 3, disseminated superficial actinic type | |
| | | Single nucleotide variant (missense variant) | MVK-related disorder +7 more | |
| | | Single nucleotide variant (missense variant) | Mevalonic aciduria | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Porokeratosis 3, disseminated superficial actinic type +2 more | |
| | | Single nucleotide variant (missense variant) | Porokeratosis 3, disseminated superficial actinic type +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Porokeratosis 3, disseminated superficial actinic type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Porokeratosis 3, disseminated superficial actinic type | |
| | | Single nucleotide variant (missense variant) | Porokeratosis 3, disseminated superficial actinic type | |
| | | Single nucleotide variant (missense variant) | MVK-related disorder +7 more | GPathogenic/Likely pathogenic |