| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +1 more) | Mevalonic aciduria +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonic aciduria, cblB type +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Methylmalonic aciduria, cblB type +5 more | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Hyperimmunoglobulin D with periodic fever +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mevalonic aciduria +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Mevalonic aciduria +4 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene