| | LOC121740684, LOC121740685 +4735 more | Copy number loss | See cases | |
| | LOC111674474, LOC111674475 +2212 more | Copy number gain | See cases | |
| | LOC129999548, LOC129999549 +1547 more | Copy number gain | See cases | |
| | LOC129999653, LOC129999654 +1380 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999666, LOC129999667 +1052 more | Copy number gain | See cases | |
| | TMEM140, TMEM176A +1046 more | Copy number gain | See cases | |
| | LOC129999503, LOC129999504 +1025 more | Copy number gain | See cases | |
| | LINC00996, LINC01003 +1025 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | WDR86, WDR86-AS1 +944 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129999526, LOC129999527 +908 more | Copy number gain | See cases | |
| | | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | See cases | |
| | LOC129999649, LOC129999650 +737 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | Developmental cataract +1 more | |
| | | Single nucleotide variant (non-coding transcript variant) | Developmental cataract +1 more | |
| | | Single nucleotide variant | Developmental cataract +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Developmental cataract +1 more | |
| | | Single nucleotide variant | Developmental cataract +1 more | |
| | | Duplication (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | Cataract 38 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Cataract 38 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | AGK-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Cataract 38 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (nonsense) | Sengers syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Sengers syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Cataract 38 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Sengers syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Cataract 38 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Sengers syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Sengers syndrome | |
| | | Single nucleotide variant (missense variant) | Sengers syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Sengers syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (splice donor variant) | Cataract 38 +1 more | |
| | | Single nucleotide variant (intron variant) | AGK-related disorder +4 more | |
| | | Single nucleotide variant (intron variant) | Sengers syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Cataract 38 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Sengers syndrome | |
| | | Deletion (intron variant) | Sengers syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Sengers syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Sengers syndrome +1 more | |
| | | Deletion (intron variant) | Sengers syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Sengers syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Cataract 38 +1 more | |
| | | Single nucleotide variant (intron variant) | Sengers syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Cataract 38 +1 more | |
| | | Single nucleotide variant (missense variant) | Sengers syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Sengers syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Sengers syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Sengers syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Sengers syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Cataract 38 +1 more | |
| | | Single nucleotide variant (intron variant) | Sengers syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Sengers syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Sengers syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Sengers syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Sengers syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | AGK-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Sengers syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Sengers syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Sengers syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Sengers syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Sengers syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cataract 38 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Sengers syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Sengers syndrome +1 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Cataract 38 +1 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |