| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a NOTCH2 point mutation +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a NOTCH2 point mutation +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | NOTCH2-related disorder +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene