| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Trichohepatoenteric syndrome 1 | |
| | | Deletion (frameshift variant) | Trichohepatoenteric syndrome 1 | |
| | | Single nucleotide variant (splice donor variant) | Trichohepatoenteric syndrome 1 +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene