| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hereditary leiomyomatosis and renal cell cancer +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Fumarase deficiency | |
| | | Single nucleotide variant (missense variant) | Fumarase deficiency | |
Click to view in NCBI Gene