| | ABHD11, ABHD11-AS1 +130 more | Deletion | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +129 more | Deletion | Williams syndrome | |
| | | Copy number loss | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +132 more | Deletion | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +131 more | Copy number loss | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +25 more | Copy number loss | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +25 more | Copy number loss | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +25 more | Copy number loss | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +25 more | Copy number loss | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +21 more | Copy number loss | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +25 more | Copy number loss | Williams syndrome | |
| | | Copy number loss | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +29 more | Copy number loss | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +27 more | Copy number loss | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +25 more | Copy number loss | Williams syndrome | |
| | | Deletion (frameshift variant) | Cutis laxa, autosomal dominant 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Supravalvar aortic stenosis +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Supravalvar aortic stenosis +4 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | Cutis laxa, autosomal dominant 1 +2 more | |
| | | Single nucleotide variant (nonsense) | Williams syndrome | |
| | | Single nucleotide variant (missense variant) | Supravalvar aortic stenosis +3 more | |
| | | Single nucleotide variant (synonymous variant) | ELN-related disorder +3 more | |
| | ABHD11, ABHD11-AS1 +20 more | Copy number loss | Williams syndrome | |
| | ELN, ELN-AS1 (V426M +11 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Deletion | Williams syndrome | |
| | | Single nucleotide variant (intron variant) | Williams syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Williams syndrome | |
| | | Microsatellite (frameshift variant) | Williams syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Supravalvar aortic stenosis +2 more | GPathogenic/Likely pathogenic |
| | | Deletion | Williams syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Williams syndrome +1 more | |
| | ABHD11, ABHD11-AS1 +23 more | Copy number loss | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +25 more | Copy number loss | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +44 more | Copy number loss | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +25 more | Copy number loss | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +24 more | Copy number loss | Williams syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | See cases +5 more | |
| | | Single nucleotide variant (missense variant) | Williams syndrome +2 more | |
| | ELN, ELN-AS1 (V559I +11 more) | Single nucleotide variant (missense variant) | Williams syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
| | | Deletion (inframe_deletion) | Supravalvar aortic stenosis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 1 +3 more | |
| | | Single nucleotide variant (missense variant) | ELN-related disorder +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Cutis laxa, autosomal dominant 1 +3 more | |
| | ELN, ELN-AS1 (A442F +10 more) | Indel (missense variant +1 more) | Cutis laxa, autosomal dominant 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal dominant 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Cutis laxa, autosomal dominant 1 +5 more | |