| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Infantile liver failure syndrome 3 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Hereditary cancer-predisposing syndrome +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene