| | | Copy number gain | See cases | |
| | LOC126863153, LOC126863154 +2088 more | Copy number gain | See cases | |
| | ADORA2A, ADORA2A-AS1 +798 more | Copy number gain | See cases | |
| | LOC130067137, LOC130067138 +823 more | Copy number gain | See cases | |
| | LOC130067246, LOC130067247 +556 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130067166, LOC130067167 +260 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (stop lost) | Cataract 17 multiple types | |
| | | Duplication (frameshift variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (synonymous variant) | Cataract 17 multiple types +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cataract 17 multiple types | |
| | | Duplication (frameshift variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (missense variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (missense variant) | Cataract 17 multiple types +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Cataract 17 multiple types | |
| | | Single nucleotide variant (missense variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (missense variant) | Cataract 17 multiple types | |
| | | Deletion (frameshift variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (intron variant) | Cataract 17 multiple types | |
| | | Insertion (intron variant) | Schizophrenia | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (synonymous variant) | CRYBB1-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (synonymous variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Cataract 17 multiple types | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (intron variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (missense variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (missense variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (missense variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (synonymous variant) | Cataract 17 multiple types | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental cataract | |
| | | Single nucleotide variant (missense variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (synonymous variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (missense variant) | Cataract 17 multiple types +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 (missense variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (synonymous variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (intron variant) | Cataract 17 multiple types | |
| | | 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) | Cataract 17 multiple types +1 more | |
| | | Single nucleotide variant (synonymous variant) | CRYBB1-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (synonymous variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (missense variant) | Developmental cataract | |
| | | Single nucleotide variant (missense variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (missense variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cataract 17 multiple types | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Cataract 17 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Cataract 17 multiple types | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | CRYBB1-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (missense variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (missense variant +1 more) | Cataract 17 multiple types | |
| | | Single nucleotide variant (5 prime UTR variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (5 prime UTR variant) | CRYBB1-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Cataract 17 multiple types | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cataract 23 | |
| | | Single nucleotide variant (synonymous variant) | Cataract 23 | |
| | | Single nucleotide variant (missense variant) | Cataract 23 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |