| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Infantile liver failure syndrome 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Infantile liver failure syndrome 2 | |
| | | Single nucleotide variant (intron variant) | not provided | |
Click to view in NCBI Gene