| | LOC115995524, LOC115995525 +2647 more | Copy number gain | See cases | |
| | LOC123453201, LOC123453202 +1450 more | Copy number gain | See cases | |
| | LOC129938169, LOC129938170 +1318 more | Copy number gain | See cases | |
| | LOC108281160, LOC108281177 +1247 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +1245 more | Copy number gain | See cases | |
| | LOC132088897, LOC132088898 +1201 more | Copy number gain | See cases | |
| | LOC129938260, LOC129938261 +1064 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +627 more | Copy number gain | See cases | |
| | LOC129938077, LOC129938078 +1041 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129938282, LOC129938283 +866 more | Copy number gain | See cases | |
| | | Duplication | Currarino triad | |
| | LINC01206, ACTL6A +44 more | Deletion | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | ABCC5, ABCC5-AS1 +399 more | Copy number loss | See cases | |
| | LINC01206, LINC01994 +13 more | Copy number loss | See cases | |
| | LINC01206, LOC108281177 +8 more | Copy number loss | See cases | |
| | LOC108281177, LOC108281178 +2 more | Copy number gain | See cases | |
| | LOC108281177, LOC108281178 +2 more | Copy number loss | See cases | |
| | LOC108281177, LOC108281178 +2 more | Copy number loss | See cases | |
| | LOC108281177, SOX2 +1 more | Copy number gain | See cases | |
| | LOC108281177, SOX2 +1 more | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | LOC108281177, SOX2 +1 more | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | LOC108281177, SOX2 +1 more (M1fs) | Deletion (frameshift variant +1 more) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | LOC108281177, LOC108281178 +3 more | Deletion | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | LOC108281177, SOX2 +1 more (Y2fs) | Duplication (frameshift variant +1 more) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (E6*) | Single nucleotide variant (nonsense) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (T7M) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC108281177, SOX2 +1 more | Single nucleotide variant (synonymous variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (E8*) | Single nucleotide variant (nonsense) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more | Deletion (nonsense) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more | Single nucleotide variant (synonymous variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more | Single nucleotide variant (synonymous variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC108281177, SOX2 +1 more | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | LOC108281177, SOX2 +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC108281177, SOX2 +1 more (S18K) | Indel (missense variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome +1 more | GConflicting classifications of pathogenicity |
| | LOC108281177, SOX2 +1 more (S18*) | Single nucleotide variant (nonsense) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (G21fs) | Duplication (frameshift variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome +1 more | |
| | LOC108281177, SOX2 +1 more (G21fs) | Duplication (frameshift variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (G20fs) | Deletion (frameshift variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more | Single nucleotide variant (synonymous variant) | not provided | GConflicting classifications of pathogenicity |
| | LOC108281177, SOX2 +1 more (G19V) | Indel (missense variant) | not provided | |
| | LOC108281177, SOX2 +1 more (G19V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC108281177, SOX2 +1 more | Microsatellite (inframe_insertion) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (G31fs) | Duplication (frameshift variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (G23fs) | Deletion (frameshift variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (G31fs) | Duplication (frameshift variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (G20fs) | Indel (frameshift variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (N24fs) | Deletion (frameshift variant) | not provided +2 more | |
| | LOC108281177, SOX2 +1 more (N24fs) | Deletion (frameshift variant) | not provided +1 more | |
| | LOC108281177, SOX2 +1 more | Single nucleotide variant | Anophthalmia/microphthalmia-esophageal atresia syndrome +1 more | GConflicting classifications of pathogenicity |
| | LOC108281177, SOX2 +1 more (G23V) | Single nucleotide variant (missense variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more | Single nucleotide variant (synonymous variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | SOX2-OT, LOC108281177 +1 more (T26A) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC108281177, SOX2 +1 more | Microsatellite (inframe_insertion) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (N33fs) | Duplication (frameshift variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more | Single nucleotide variant (synonymous variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (A29T) | Single nucleotide variant (missense variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (S37fs) | Duplication (frameshift variant) | Microphthalmia | |
| | LOC108281177, SOX2 +1 more (Q34*) | Single nucleotide variant (nonsense) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (P38L) | Single nucleotide variant (missense variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (R43W) | Single nucleotide variant (missense variant) | not provided | |
| | LOC108281177, SOX2 +1 more (P44L) | Single nucleotide variant (missense variant) | not provided | |
| | LOC108281177, SOX2 +1 more (P44R) | Single nucleotide variant (missense variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (M45L) | Single nucleotide variant (missense variant) | not provided | |
| | LOC108281177, SOX2 +1 more (N46K) | Single nucleotide variant (missense variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (F48del) | Deletion (inframe_deletion) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (F48V) | Single nucleotide variant (missense variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (F48S) | Single nucleotide variant (missense variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (F48*) | Indel (nonsense) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | LOC108281177, SOX2 +1 more (S52P) | Single nucleotide variant (missense variant) | Chorioretinal coloboma | |
| | LOC108281177, SOX2 +1 more (R53fs) | Duplication (frameshift variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC108281177, SOX2 +1 more (G54W) | Single nucleotide variant (missense variant) | not provided | |
| | LOC108281177, SOX2 +1 more (Q55*) | Single nucleotide variant (nonsense) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (R56G) | Single nucleotide variant (missense variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (R56W) | Single nucleotide variant (missense variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (R56P) | Single nucleotide variant (missense variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (R57fs) | Deletion (frameshift variant) | not provided | |
| | LOC108281177, SOX2 +1 more (M59fs) | Deletion (frameshift variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (Q61*) | Single nucleotide variant (nonsense) | not provided | |
| | LOC108281177, SOX2 +1 more (H67fs) | Duplication (frameshift variant) | not provided | |
| | LOC108281177, SOX2 +1 more (E70G) | Single nucleotide variant (missense variant) | not provided | |
| | LOC108281177, SOX2 +1 more | Single nucleotide variant (synonymous variant) | SOX2-related disorder | |
| | LOC108281177, SOX2 +1 more (R74P) | Single nucleotide variant (missense variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (G76D) | Single nucleotide variant (missense variant) | not provided | |
| | LOC108281177, SOX2 +1 more | Single nucleotide variant (synonymous variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (L81F) | Single nucleotide variant (missense variant) | SOX2-related disorder | |
| | LOC108281177, SOX2 +1 more (L81fs) | Deletion (frameshift variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (L82fs) | Deletion (frameshift variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | LOC108281177, SOX2 +1 more (L82*) | Single nucleotide variant (nonsense) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (S83*) | Single nucleotide variant (nonsense) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (T85M) | Single nucleotide variant (missense variant) | not provided | |
| | LOC108281177, SOX2 +1 more (E86fs) | Indel (frameshift variant) | Anophthalmia | |
| | LOC108281177, SOX2 +1 more (E86*) | Single nucleotide variant (nonsense) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2 +1 more (E93Q) | Single nucleotide variant (missense variant) | not provided | |