| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126806462, SATB2 (E692*) | Single nucleotide variant (nonsense) | Chromosome 2q32-q33 deletion syndrome | |
| | LOC126806462, SATB2 (H673fs) | Duplication (frameshift variant) | Chromosome 2q32-q33 deletion syndrome | |
| | LOC126806462, SATB2 (S649fs) | Duplication (frameshift variant) | Chromosome 2q32-q33 deletion syndrome | |
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