| | LOC126806462, SATB2 (N665S) | 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 | |
| | LOC126806462, SATB2 (H634R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126806462, SATB2 (E599*) | Single nucleotide variant (nonsense) | 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 | |
| | LOC126806462, SATB2 (I660del) | Microsatellite (inframe_deletion) | SATB2 associated disorder | |
| | LOC126806462, SATB2 (K614fs) | Deletion (frameshift variant) | SATB2-related disorder | |
| | LOC126806462, SATB2 (G674R) | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chromosome 2q32-q33 deletion syndrome | |
| | LOC126806462, SATB2 (L676M) | Single nucleotide variant (missense 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 | |
| | LOC126806462, SATB2 (T647N) | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chromosome 2q32-q33 deletion syndrome | |
| | LOC126806462, SATB2 (P615T) | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | LOC126806462, SATB2 (S622F) | Single nucleotide variant (missense 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 (intron variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (synonymous variant) | SATB2-related disorder +1 more | |
| | LOC126806462, SATB2 (E697K) | 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 (D702G) | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | LOC126806462, SATB2 (E599K) | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | LOC126806462, SATB2 (H672R) | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (nonsense) | Chromosome 2q32-q33 deletion syndrome | |
| | | Duplication | not provided | |
| | LOC126806462, SATB2 (S682Y) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | SATB2-associated syndrome | |
| | LOC126806462, SATB2 (M710K) | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication (frameshift variant +1 more) | Chromosome 2q32-q33 deletion syndrome | |
| | | Copy number loss | SATB2 associated disorder | |
| | LOC126806462, SATB2 (D702fs) | Deletion (frameshift variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (nonsense) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | LOC126806462, SATB2 (L654R) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126806462, SATB2 (A590T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Insertion (nonsense) | 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 (missense variant +1 more) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Developmental disorder | |
| | LOC126806462, SATB2 (D721N) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Chromosome 2q32-q33 deletion syndrome | |
| | LOC126806462, SATB2 (P606L) | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chromosome 2q32-q33 deletion syndrome | |
| | LOC126806462, SATB2 (V581I) | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome +1 more | |
| | LOC126806462, SATB2 (S707P) | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome +1 more | |
| | LOC126806462, SATB2 (K675T) | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | LOC126806462, SATB2 (L680V) | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Duplication (frameshift variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Insertion (frameshift variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Deletion (frameshift variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (nonsense) | Chromosome 2q32-q33 deletion syndrome | |
| | | Microsatellite (frameshift variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Duplication (frameshift variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Deletion (frameshift variant +1 more) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Duplication (splice donor variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | LOC126806462, SATB2 (D609fs) | Duplication (frameshift variant) | Inborn genetic diseases | |
| | LOC126806462, SATB2 (P640S) | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (intron variant) | Chromosome 2q32-q33 deletion syndrome | |
| | LOC126806462, SATB2 (H672L) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | SATB2 associated disorder | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | LOC126806462, SATB2 (A726V) | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Chromosome 2q32-q33 deletion syndrome | |
| | LOC126806462, SATB2 (K591Q) | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Copy number loss | not specified | |
| | LOC126806462, SATB2 (K722Q) | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | LOC126806462, SATB2 (E592K) | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | LOC126806462, SATB2 (H657R) | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | LOC126806462, SATB2 (R584K) | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | LOC126806462, SATB2 (M710I) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Chromosome 2q32-q33 deletion syndrome | |
| | LOC126806462, SATB2 (R618C) | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Copy number loss | not provided | |
| | LOC126806462, SATB2 (E708K) | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | Chromosome 2q32-q33 deletion syndrome | |
| | LOC126806462, SATB2 (V713M) | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (inframe_insertion) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC126806462, SATB2 (Q642*) | Single nucleotide variant (nonsense) | Cerebellar ataxia | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | LOC126806462, SATB2 (R618H) | 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 | |