| | LOC129937446, LOC129937447 +1343 more | Copy number gain | See cases | |
| | LOC129937268, LOC129937269 +2645 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 | |
| | LOC129937649, LOC129937650 +301 more | Copy number loss | See cases | |
| | LOC129937630, LOC129937631 +320 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | FOXL2-related disorder | |
| | | Copy number loss | See cases | |
| | | Inversion (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | FOXL2-related disorder | |
| | | Deletion (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | FOXL2-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Genetic non-acquired premature ovarian failure | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Duplication (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Indel (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | Premature ovarian failure 3 | |
| | | Duplication (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Deletion (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Duplication (frameshift variant) | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | |
| | | Microsatellite (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Single nucleotide variant (missense variant) | Duane retraction syndrome | |
| | | Duplication (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Duplication (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Duplication (frameshift variant) | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | |
| | | Duplication (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Deletion (frameshift variant) | not provided | |
| | | Duplication (frameshift variant) | Genetic non-acquired premature ovarian failure | |
| | | Duplication (frameshift variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Premature ovarian failure 3 | |
| | | Deletion (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Deletion (frameshift variant) | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II +1 more | |
| | | Duplication (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Deletion (frameshift variant) | not provided | |
| | | Duplication (frameshift variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Indel (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Deletion (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Duplication (frameshift variant) | not provided | |
| | | Insertion (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Single nucleotide variant (missense variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Single nucleotide variant (nonsense) | Premature ovarian failure 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (nonsense) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome +1 more | |
| | | Deletion (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Single nucleotide variant (missense variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Genetic non-acquired premature ovarian failure | |
| | | Single nucleotide variant (nonsense) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Microsatellite (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Deletion (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Single nucleotide variant (missense variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Duplication (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |