| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a NOTCH2 point mutation | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a NOTCH2 point mutation +3 more | GConflicting classifications of pathogenicity |
| | | Indel (nonsense) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a NOTCH2 point mutation +1 more | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a NOTCH2 point mutation | |
| | | Single nucleotide variant (splice acceptor variant) | Alagille syndrome due to a NOTCH2 point mutation | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a NOTCH2 point mutation | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a NOTCH2 point mutation +2 more | |
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