NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter)Pathogenic
Chromosome 2q32-q33 deletion syndrome|not provided|Intellectual disability|Cleft palate|SATB2-related disorder
β
β
ββ2025β Residue 239
NM_001172509.2(SATB2):c.1696G>A (p.Glu566Lys)Pathogenic
not provided|Chromosome 2q32-q33 deletion syndrome
β
β
ββ2025β Residue 566
NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter)Pathogenic
Inborn genetic diseases|not provided|Chromosome 2q32-q33 deletion syndrome|SATB2 associated disorder|SATB2-related disorder
β
β
ββ2025β Residue 283
NM_001172509.2(SATB2):c.1286G>A (p.Arg429Gln)Pathogenic
not provided|Chromosome 2q32-q33 deletion syndrome
β
β
ββ2025β Residue 429
NM_001172509.2(SATB2):c.1166G>T (p.Arg389Leu)Pathogenic
Chromosome 2q32-q33 deletion syndrome|not provided
β
β
ββ2025β Residue 389
NM_001172509.2(SATB2):c.1195C>T (p.Arg399Cys)Pathogenic
Chromosome 2q32-q33 deletion syndrome|Intellectual disability|not provided|SATB2 associated disorder
β
β
ββ2025β Residue 399
NM_001172509.2(SATB2):c.1946C>T (p.Ser649Leu)Pathogenic
not provided|Inborn genetic diseases|Chromosome 2q32-q33 deletion syndrome
β
β
ββ2025β Residue 649
NM_001172509.2(SATB2):c.1728del (p.Glu577fs)Pathogenic
Inborn genetic diseases|not provided
β
β
ββ2025β Residue 577
NM_001172509.2(SATB2):c.346G>A (p.Gly116Arg)Pathogenic
Chromosome 2q32-q33 deletion syndrome
β
β
ββ2025β Residue 116
NM_001172509.2(SATB2):c.1285C>T (p.Arg429Ter)Pathogenic
not provided|Chromosome 2q32-q33 deletion syndrome|Neurodevelopmental abnormality
β
β
ββ2024β Residue 429
NM_001172509.2(SATB2):c.808_809del (p.Gln270fs)Pathogenic
Inborn genetic diseases|Chromosome 2q32-q33 deletion syndrome
β
β
ββ2024β Residue 270
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter)Pathogenic
Isolated cleft palate|Chromosome 2q32-q33 deletion syndrome|Dystonic disorder;Intellectual disability|not provided|Inborn genetic diseases|Neurodevelopmental disorder
β
β
ββ2024β Residue 459
NM_001172509.2(SATB2):c.1196G>A (p.Arg399His)Pathogenic
not provided|Chromosome 2q32-q33 deletion syndrome
β
β
ββ2024β Residue 399
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)Pathogenic
not provided|Inborn genetic diseases|Chromosome 2q32-q33 deletion syndrome|SATB2 associated disorder
β
β
ββ2024β Residue 389
NM_001172509.2(SATB2):c.1204G>A (p.Glu402Lys)Pathogenic
Chromosome 2q32-q33 deletion syndrome|not provided
β
β
ββ2024β Residue 402
NM_001172509.2(SATB2):c.1174-2A>GPathogenic
Chromosome 2q32-q33 deletion syndrome|not provided
β
β
ββ2024
NM_001172509.2(SATB2):c.318T>G (p.Tyr106Ter)Pathogenic
Chromosome 2q32-q33 deletion syndrome
β
β
ββ2023β Residue 106
NM_001172509.2(SATB2):c.1808_1817del (p.Pro603fs)Pathogenic
Chromosome 2q32-q33 deletion syndrome|Inborn genetic diseases
β
β
ββ2023β Residue 603
NM_001172509.2(SATB2):c.1564C>T (p.Arg522Cys)Pathogenic
not provided|Chromosome 2q32-q33 deletion syndrome
β
β
ββ2023β Residue 522
NM_001172509.2(SATB2):c.1654_1655del (p.Arg552fs)Pathogenic
6 conditions|not provided
β
β
ββ2023β Residue 552