| | | Deletion (frameshift variant +1 more) | Cataract 13 with adult I phenotype | |
| | | Single nucleotide variant (missense variant) | Cataract 13 with adult I phenotype | |
| | | Deletion | Cataract 13 with adult I phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cataract 13 with adult I phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cataract 13 with adult I phenotype | |
| | | Single nucleotide variant (nonsense) | Cataract 13 with adult I phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cataract 13 with adult I phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cataract 13 with adult I phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense) | Cataract 13 with adult I phenotype | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Cataract 13 with adult I phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cataract 13 with adult I phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cataract 13 with adult I phenotype | |
| | | Single nucleotide variant (nonsense) | Cataract 13 with adult I phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cataract 13 with adult I phenotype | |
| | | Single nucleotide variant (missense variant) | Cataract 13 with adult I phenotype | GPathogenic/Likely pathogenic |
| | | Deletion | Cataract 13 with adult I phenotype | |
| | | Deletion | Cataract 13 with adult I phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cataract 13 with adult I phenotype +1 more | |
| | | Insertion (frameshift variant +1 more) | Cataract 13 with adult I phenotype | |
| | | Deletion (frameshift variant +1 more) | Cataract 13 with adult I phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cataract 13 with adult I phenotype | |
| | | Single nucleotide variant (missense variant) | Cataract 13 with adult I phenotype | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Blood group, I system +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Blood group, I system +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Blood group, I system +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Blood group, I system +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Blood group, I system +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Blood group, I system +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cataract 13 with adult I phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cataract 13 with adult I phenotype +3 more | |
| | | Deletion (frameshift variant +1 more) | Cataract 13 with adult I phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Cataract 13 with adult I phenotype | |
| | | Deletion | Cataract 13 with adult I phenotype | |
| | | Single nucleotide variant (missense variant) | Cataract 13 with adult I phenotype | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cataract 13 with adult I phenotype | |