| | LINC02522, LINC02525 +823 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC132089500, LOC132090749 +641 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129995684, LOC129995685 +307 more | Copy number gain | See cases | |
| | LOC129995551, LOC129995552 +287 more | Copy number loss | See cases | |
| | LOC129995714, LOC129995715 +777 more | Copy number gain | See cases | |
| | LOC129995520, LOC129995521 +610 more | Copy number loss | See cases | |
| | LOC121106426, LOC121113497 +557 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC121740636, LOC121740637 +255 more | Copy number loss | See cases | |
| | LOC123575649, LOC123575650 +345 more | Copy number loss | See cases | |
| | LINC02521, LINC02522 +508 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +435 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129389427, LOC129389428 +301 more | Copy number loss | See cases | |
| | LOC126859547, LOC126859548 +305 more | Copy number loss | See cases | |
| | LOC129995574, LOC129995575 +116 more | Copy number gain | See cases | |
| | LOC129995778, LOC129995779 +571 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129995595, LOC129995596 +310 more | Copy number loss | See cases | |
| | LOC126859546, LOC126859547 +431 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129995630, LOC129995631 +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 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | FOXC1-related condition | |
| | | Single nucleotide variant (5 prime UTR variant) | FOXC1-related condition | |
| | | Single nucleotide variant (5 prime UTR variant) | FOXC1-related condition | |
| | | 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 | |
| | | 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) | FOXC1-related condition +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) | FOXC1-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | not specified +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 | |
| | | 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 condition | |
| | | Insertion (frameshift variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (synonymous variant) | FOXC1-related condition +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) | not specified +2 more | |
| | | Single nucleotide variant (missense 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 | |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (synonymous variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (synonymous variant) | Axenfeld-Rieger syndrome type 3 | |