| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant) | Alagille syndrome due to a JAG1 point mutation +4 more | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation +3 more | |
Click to view in NCBI Gene