| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC108281177, SOX2
+1 more (E8*) | Single nucleotide variant (nonsense) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2
+1 more (S37fs) | Duplication (frameshift variant) | Microphthalmia | |
| | LOC108281177, SOX2
+1 more (S52P) | Single nucleotide variant (missense variant) | Chorioretinal coloboma | |
| | LOC108281177, SOX2
+1 more (E86fs) | Indel (frameshift variant) | Anophthalmia | |
| | LOC108281177, SOX2
+1 more (Y171*) | Single nucleotide variant (nonsense) | Anophthalmia +1 more | |
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