| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Weill-Marchesani syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Weill-Marchesani syndrome | |
| | | Single nucleotide variant (intron variant) | Weill-Marchesani syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Weill-Marchesani syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Weill-Marchesani syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Weill-Marchesani syndrome | |
| | | Single nucleotide variant (intron variant) | Weill-Marchesani syndrome | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Weill-Marchesani syndrome | |
| | | Single nucleotide variant (missense variant) | Weill-Marchesani syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Weill-Marchesani syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Weill-Marchesani syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Weill-Marchesani syndrome | |
| | | Single nucleotide variant (intron variant) | Weill-Marchesani syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome | |
| | | Single nucleotide variant (synonymous variant) | Weill-Marchesani syndrome | |
| | | Single nucleotide variant (synonymous variant) | Weill-Marchesani syndrome | |
| | | Single nucleotide variant (missense variant) | Weill-Marchesani syndrome | |
| | | Single nucleotide variant (synonymous variant) | Weill-Marchesani syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Weill-Marchesani syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Weill-Marchesani syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Weill-Marchesani syndrome | |
| | | Single nucleotide variant (synonymous variant) | Weill-Marchesani syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Stiff skin syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +5 more | |
| | | Single nucleotide variant (synonymous variant) | Glaucoma 3, primary congenital, D +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +5 more | |
| | | Single nucleotide variant (synonymous variant) | Weill-Marchesani syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Weill-Marchesani syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Glaucoma 3, primary congenital, D +2 more | |
| | | Single nucleotide variant (missense variant) | Glaucoma 3, primary congenital, D +2 more | |
| | | Single nucleotide variant (missense variant) | Stiff skin syndrome +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Stiff skin syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Glaucoma 3, primary congenital, D +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Weill-Marchesani syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Glaucoma 3, primary infantile, B +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Weill-Marchesani syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Weill-Marchesani syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Glaucoma 3, primary congenital, D +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Stiff skin syndrome +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Glaucoma 3, primary congenital, D +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Glaucoma 3, primary congenital, D +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Glaucoma 3, primary congenital, D +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Glaucoma 3, primary congenital, D +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +6 more | |
| | | Single nucleotide variant (intron variant) | Geleophysic dysplasia +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Glaucoma 3, primary congenital, D +1 more | |
| | | Single nucleotide variant (missense variant) | Weill-Marchesani syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Weill-Marchesani syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Weill-Marchesani syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Stiff skin syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Glaucoma 3, primary congenital, D +1 more | |
| | | Single nucleotide variant (missense variant) | Stiff skin syndrome +5 more | |
| | | Single nucleotide variant (intron variant) | Glaucoma 3, primary congenital, D +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Glaucoma 3, primary congenital, D +1 more | |
| | | Single nucleotide variant (missense variant) | Weill-Marchesani syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | Glaucoma 3, primary congenital, D +1 more | |
| | | Single nucleotide variant (intron variant) | Stiff skin syndrome +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Stiff skin syndrome +5 more | |
| | | Single nucleotide variant (synonymous variant) | Glaucoma 3, primary congenital, D +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Glaucoma 3, primary congenital, D +2 more | |
| | | Single nucleotide variant (synonymous variant) | Glaucoma 3, primary congenital, D +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +10 more | GConflicting classifications of pathogenicity |