| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | NOTCH1-related condition +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Aortic valve disease 1 | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 | |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 | |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 | |
| | | Duplication (splice donor variant) | Aortic valve disease 1 | |
| | | Single nucleotide variant (synonymous variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 | |
| | | Single nucleotide variant (intron variant) | Aortic valve disease 1 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Aortic valve disease 1 | |
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