| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC108281177, SOX2
+1 more (G19V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC108281177, SOX2
+1 more (N24fs) | Deletion (frameshift variant) | Inborn genetic diseases | |
| | LOC108281177, SOX2
+1 more (M102I) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC108281177, SOX2
+1 more (P112A) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
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