| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126806462, SATB2 (P603fs) | Deletion (frameshift variant) | Inborn genetic diseases +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (intron variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Chromosome 2q32-q33 deletion syndrome | |
Click to view in NCBI Gene