| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant) | not provided +4 more | |
| | | Deletion | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant | Alagille syndrome due to a JAG1 point mutation | |
| | | Deletion | Alagille syndrome due to a JAG1 point mutation | |
| | | Deletion | Alagille syndrome due to a JAG1 point mutation | |
Click to view in NCBI Gene