| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Supravalvar aortic stenosis +1 more | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal dominant 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Supravalvar aortic stenosis +2 more | |
| | | Deletion (inframe_deletion) | not provided +1 more | |
| | ELN, ELN-AS1 (G419D +11 more) | Single nucleotide variant (missense variant) | not provided | |
| | ELN, ELN-AS1 (G458S +11 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
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