| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129995555, LOC129995556 +641 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129995829, LOC129995830 +777 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129995745, LOC129995746 +557 more | Copy number gain | See cases | |
| | ANKRD66, C6orf201 +2580 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC132090751, LOC132090752 +508 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC132089486, LOC132089487 +435 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126859561, LOC126859562 +305 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | SERPINB9-AS1, SLC22A23 +571 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +431 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126859578, LOC126859579 +536 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129995604, LOC129995605 +12 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | FOXC1-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant) | FOXC1-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant) | FOXC1-related disorder | |
| | | Deletion (5 prime UTR variant) | not provided | |
| | | Deletion (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | FOXC1, LOC129995600 +1 more (M1fs) | Deletion (frameshift variant +1 more) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Deletion | Axenfeld-Rieger syndrome type 3 | |
| | | Deletion | Axenfeld-Rieger syndrome type 3 | |
| | FOXC1, LOC129995601 (M1fs) | Deletion (frameshift variant +1 more) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (nonsense) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (synonymous variant) | Axenfeld-Rieger syndrome type 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (synonymous variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (missense variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (missense variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (synonymous variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (missense variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (missense variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (missense variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Deletion (frameshift variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (missense variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Duplication (frameshift variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (nonsense) | Axenfeld-Rieger syndrome type 3 | |
| | | Deletion (frameshift variant) | Axenfeld-Rieger syndrome type 3 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | not provided +3 more | |
| | | Deletion (frameshift variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (missense variant) | Anterior segment dysgenesis 3 | |
| | | Single nucleotide variant (synonymous variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Deletion (frameshift variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Deletion (frameshift variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (missense variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Indel (frameshift variant) | FOXC1-related disorder | |
| | | Insertion (frameshift variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (synonymous variant) | Axenfeld-Rieger syndrome type 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (synonymous variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Deletion (frameshift variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (synonymous variant) | FOXC1-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Duplication (frameshift variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (missense variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (nonsense) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (nonsense) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (synonymous variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Anterior segment dysgenesis 3 | |