| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130003020, NOTCH1 (R20L) | Single nucleotide variant (missense variant) | Aortic valve disease 1 +2 more | |
| | LOC130003020, NOTCH1 (A18T) | Single nucleotide variant (missense variant) | not provided +3 more | |
| | LOC130003020, NOTCH1 (A12V) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | LOC130003020, NOTCH1 (P7S) | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +2 more | GConflicting classifications of pathogenicity |
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