| | | Insertion (inframe_indel) | Cataract 12 multiple types | |
| | BFSP2, BFSP2-AS1 +1 more (L317V) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cataract 12 multiple types | |
| | | Single nucleotide variant (intron variant) | BFSP2-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | BFSP2, BFSP2-AS1 +1 more (A316D) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | BFSP2, BFSP2-AS1 +1 more (E311D) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | BFSP2, BFSP2-AS1 +1 more (R339C) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Cataract 12 multiple types | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cataract 12 multiple types | |
| | | Single nucleotide variant (synonymous variant) | Cataract 12 multiple types | |
| | | Single nucleotide variant (missense variant) | Cataract 12 multiple types | |
| | | Single nucleotide variant (missense variant) | Cataract 12 multiple types | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Cataract 12 multiple types +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Duplication (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) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Cataract 12 multiple types +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cataract 12 multiple types | |
| | | Single nucleotide variant (synonymous variant) | Cataract 12 multiple types | |
| | | Single nucleotide variant (synonymous variant) | Cataract 12 multiple types +1 more | |
| | | Single nucleotide variant (missense variant) | Cataract 12 multiple types +1 more | |
| | | Single nucleotide variant (missense variant) | Cataract 12 multiple types | |
| | | Single nucleotide variant (missense variant) | Cataract 12 multiple types | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Cataract 12 multiple types | |
| | | Single nucleotide variant (intron variant) | Cataract 12 multiple types | |
| | | Single nucleotide variant (missense variant) | Cataract 12 multiple types | |
| | | Single nucleotide variant (synonymous variant) | Cataract 12 multiple types | |
| | | Single nucleotide variant (intron variant) | Cataract 12 multiple types | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (nonsense) | Cataract 12 multiple types | |
| | BFSP2, BFSP2-AS1 +1 more (R318S) | Single nucleotide variant (missense variant) | Cataract 12 multiple types | |
| | | Single nucleotide variant (no sequence alteration) | Cataract 12 multiple types | |
| | | Single nucleotide variant (3 prime UTR variant) | Cataract 12 multiple types | |
| | | Single nucleotide variant (3 prime UTR variant) | Cataract 12 multiple types | |
| | | Single nucleotide variant (3 prime UTR variant) | Cataract 12 multiple types | |
| | | Deletion (3 prime UTR variant) | Cataract | |
| | | Single nucleotide variant (3 prime UTR variant) | Cataract 12 multiple types | |
| | | Single nucleotide variant (3 prime UTR variant) | Cataract 12 multiple types | |
| | | Single nucleotide variant (missense variant) | BFSP2-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cataract 12 multiple types | |
| | | Single nucleotide variant (missense variant) | Cataract 12 multiple types | |
| | | Single nucleotide variant (synonymous variant) | Cataract 12 multiple types | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental cataract | |
| | LOC129937649, LOC129937650 +301 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129937446, LOC129937447 +1343 more | Copy number gain | See cases | |
| | LOC126806816, LOC126806817 +484 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129937268, LOC129937269 +2645 more | Copy number gain | See cases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number loss | See cases | |
| | | Microsatellite (inframe_deletion) | Cataract 12 multiple types +1 more | |
| | | Single nucleotide variant (missense variant) | Cataract 12 multiple types | |