| | LOC125048431, LOC125048432 +3280 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130056152, LOC130056153 +503 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +2 more | GConflicting classifications of pathogenicity |
| | | 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 +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 | GConflicting classifications of pathogenicity |
| | | 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) | 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) | 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 | |
| | | 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 +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 | |
| | | Duplication (3 prime UTR variant) | Primary congenital glaucoma +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 | GConflicting classifications of pathogenicity |
| | | 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) | 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) | Weill-Marchesani syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +1 more | GConflicting classifications of pathogenicity |
| | | 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) | 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) | 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) | 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) | 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) | 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 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +1 more | |
| | | Duplication (3 prime UTR variant) | Weill-Marchesani syndrome +5 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | Microspherophakia | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant) | Weill-Marchesani syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | Glaucoma 3A +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Glaucoma 3, primary congenital, D +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | Weill-Marchesani syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Weill-Marchesani syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | LTBP2-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |