| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC108281177, SOX2
+1 more | Microsatellite (inframe_insertion) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2
+1 more (L82fs) | Deletion (frameshift variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | LOC108281177, SOX2
+1 more (Y160*) | Single nucleotide variant (nonsense) | Anophthalmia/microphthalmia-esophageal atresia syndrome +1 more | |
Click to view in NCBI Gene