| | | Copy number gain | not specified | |
| | GBF1, LOC130004591 +1 more | Single nucleotide variant (synonymous variant +1 more) | PITX3-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | PITX3-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | GBF1, LOC130004591 +1 more (V235M) | Single nucleotide variant (missense variant +1 more) | PITX3-related condition +1 more | |
| | GBF1, LOC130004591 +1 more (A247V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number gain | Distal trisomy 10q | |
| | | Copy number loss | Distal 10q deletion syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Duplication | not provided | |
| | GBF1, LOC130004591 +1 more (A228T) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC130004591, GBF1 +1 more (A226V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | GBF1, LOC130004591 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Anterior segment dysgenesis 1 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (stop lost) | Developmental cataract | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GBF1, LOC130004591 +1 more | Microsatellite (inframe_insertion) | not provided | |
| | GBF1, LOC130004591 +1 more (Y254*) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | | Duplication (frameshift variant) | Cataract 11 multiple types +1 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ABLIM1, ABRAXAS2 +201 more | Copy number gain | See cases | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | ABLIM1, ABRAXAS2 +1097 more | Copy number gain | See cases | |
| | LOC126861081, LOC126861082 +1036 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion (frameshift variant) | Cataract 11, posterior polar +1 more | |
| | | Single nucleotide variant (missense variant) | Cataract 11 multiple types | |