| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Duplication (frameshift variant) | Supravalvar aortic stenosis | |
| | | Deletion (frameshift variant) | Supravalvar aortic stenosis | |
| | | Deletion (frameshift variant) | Supravalvar aortic stenosis | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | Supravalvar aortic stenosis +3 more | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Deletion (frameshift variant) | Supravalvar aortic stenosis | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Deletion (frameshift variant) | Supravalvar aortic stenosis | |
| | | Single nucleotide variant (nonsense) | Supravalvar aortic stenosis | |
| | | Duplication (splice donor variant +1 more) | not specified | |
| | | Deletion (frameshift variant) | Supravalvar aortic stenosis | |
| | | Single nucleotide variant (intron variant) | Supravalvar aortic stenosis +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Supravalvar aortic stenosis | |
| | | Duplication (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | Supravalvar aortic stenosis | |
| | | Single nucleotide variant (splice acceptor variant) | Supravalvar aortic stenosis | |
| | | Microsatellite (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Supravalvar aortic stenosis | |
| | | Duplication (frameshift variant) | Supravalvar aortic stenosis | |
| | | Single nucleotide variant (splice donor variant) | Dural ectasia +7 more | GConflicting classifications of pathogenicity |
| | | Deletion | Supravalvar aortic stenosis | |
| | | Deletion (frameshift variant) | Supravalvar aortic stenosis | |
| | | Single nucleotide variant (synonymous variant) | Supravalvar aortic stenosis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Supravalvar aortic stenosis +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cutis laxa, autosomal dominant 1 +3 more | |
| | | Single nucleotide variant (nonsense) | Supravalvar aortic stenosis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | ELN, ELN-AS1 (A447S +10 more) | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal dominant 1 +3 more | |
| | ELN, ELN-AS1 (P497fs +11 more) | Deletion (frameshift variant) | Supravalvar aortic stenosis | |
| | ELN-AS1, ELN (G581R +11 more) | Single nucleotide variant (missense variant) | not specified +4 more | |
| | ELN, ELN-AS1 (A553fs +11 more) | Deletion (frameshift variant) | Supravalvar aortic stenosis | |
| | ELN-AS1, ELN (Y595* +11 more) | Single nucleotide variant (nonsense) | Supravalvar aortic stenosis | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 1 +3 more | |
| | | Single nucleotide variant (nonsense) | Supravalvar aortic stenosis | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Supravalvar aortic stenosis | |
| | | Single nucleotide variant (missense variant) | Supravalvar aortic stenosis +1 more | |
| | | Single nucleotide variant (nonsense) | Supravalvar aortic stenosis | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | Cutis laxa, autosomal dominant 1 +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Deletion | Supravalvar aortic stenosis | |