| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126860794, NOTCH1 (D1989N) | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Adams-Oliver syndrome 5 | GPathogenic/Likely pathogenic |
| | | Deletion | Adams-Oliver syndrome 5 | |
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