| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC108281177, SOX2
+1 more (R56P) | Single nucleotide variant (missense variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2
+1 more (G130A) | Single nucleotide variant (missense variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | GConflicting classifications of pathogenicity |
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