| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126806462, SATB2 (N665S) | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Duplication | Chromosome 2q32-q33 deletion syndrome | |
| | | Deletion | Chromosome 2q32-q33 deletion syndrome | |
| | LOC126806462, SATB2 (L582fs) | Duplication (frameshift variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC126806462, SATB2 (H634R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126806462, SATB2 (E599*) | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | | Deletion (inframe_deletion) | Inborn genetic diseases | |
| | LOC126806462, SATB2 (P596R) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Deletion (frameshift variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Copy number loss | not specified | |
| | LOC126806462, SATB2 (I660del) | Microsatellite (inframe_deletion) | SATB2 associated disorder | |
| | LOC126806462, SATB2 (K614fs) | Deletion (frameshift variant) | SATB2-related disorder | |
| | | Single nucleotide variant (nonsense) | SATB2-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (intron variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | LOC126806462, SATB2 (G674R) | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (intron variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (intron variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (intron variant) | Chromosome 2q32-q33 deletion syndrome | |
| | LOC126806462, SATB2 (L676M) | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (intron variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (intron variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (intron variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (intron variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (intron variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chromosome 2q32-q33 deletion syndrome | |
| | LOC126806462, SATB2 (D702N) | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | LOC126806462, SATB2 (K677N) | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (intron variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Deletion (frameshift variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (intron variant) | Chromosome 2q32-q33 deletion syndrome | |
| | LOC126806462, SATB2 (T647N) | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Duplication (frameshift variant +1 more) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Chromosome 2q32-q33 deletion syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | LOC126806462, SATB2 (P615T) | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Deletion (frameshift variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (intron variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (intron variant) | Chromosome 2q32-q33 deletion syndrome | |
| | LOC126806462, SATB2 (S622F) | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | 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 | |
| | | Single nucleotide variant (splice acceptor variant) | Chromosome 2q32-q33 deletion syndrome | |
| | LOC126806462, SATB2 (P603L) | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | LOC126806462, SATB2 (S723fs) | Deletion (frameshift variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Duplication (frameshift variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (intron variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (intron variant) | Chromosome 2q32-q33 deletion syndrome | |