| | LOC130064925, LOC130064926 +1081 more | Copy number gain | See cases | |
| | LOC130064903, LOC130064904 +1093 more | Copy number gain | See cases | |
| | LOC130065082, LOC130065083 +806 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130065034, LOC130065035 +761 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | Cortical pulverulent cataract | |
| | | Single nucleotide variant (3 prime UTR variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (3 prime UTR variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (3 prime UTR variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (3 prime UTR variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (synonymous variant) | LIM2-related disorder | |
| | | Single nucleotide variant (missense variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (intron variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (intron variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (intron variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (missense variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Cataract 19 multiple types +1 more | |
| | | Single nucleotide variant (nonsense) | Cataract 19 multiple types | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | LIM2-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cataract 19 multiple types +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (synonymous variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (missense variant) | Cataract 19 multiple types +1 more | |
| | | Single nucleotide variant (missense variant) | Cataract 19 multiple types +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cataract 19 multiple types +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (synonymous variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (frameshift variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (missense variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Cataract 19 multiple types +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cataract 19 multiple types +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (missense variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Cataract 19 multiple types | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant +1 more) | Cataract 19 multiple types | |
| | | Single nucleotide variant (synonymous variant +1 more) | LIM2-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cataract 19 multiple types | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cataract 19 multiple types | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cataract 19 multiple types | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cataract 19 multiple types | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Cataract 19 multiple types | |
| | | Single nucleotide variant (synonymous variant +1 more) | LIM2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cataract 19 multiple types | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (missense variant) | LIM2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (synonymous variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (missense variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | 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 (intron variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (5 prime UTR variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (5 prime UTR variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (5 prime UTR variant) | Cataract 19 multiple types | |
| | | Single nucleotide variant (5 prime UTR variant) | Cataract 19 multiple types | |
| | | Copy number gain | not provided | |
| | | Deletion | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | PPP1R15A, PPP2R1A +308 more | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |