Gene: SATB2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome. 28139846

2017
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay. 28211976

2017
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR DEPDC5 mutations in familial and sporadic focal epilepsy. 28170089

2017
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Clinical and molecular consequences of disease-associated de novo mutations in SATB2. 28151491

2017
dbSNP: rs1553551705
rs1553551705
SATB2
C 0.700 CausalMutation CLINVAR A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay. 28211976

2017
dbSNP: rs1553551705
rs1553551705
SATB2
C 0.700 CausalMutation CLINVAR Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome. 28139846

2017
dbSNP: rs1553551705
rs1553551705
SATB2
C 0.700 CausalMutation CLINVAR DEPDC5 mutations in familial and sporadic focal epilepsy. 28170089

2017
dbSNP: rs1553551705
rs1553551705
SATB2
C 0.700 CausalMutation CLINVAR Clinical and molecular consequences of disease-associated de novo mutations in SATB2. 28151491

2017
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons. 27668656

2016
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation. 27409069

2016
dbSNP: rs1553551705
rs1553551705
SATB2
C 0.700 CausalMutation CLINVAR TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons. 27668656

2016
dbSNP: rs1553551705
rs1553551705
SATB2
C 0.700 CausalMutation CLINVAR Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation. 27409069

2016
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing. 25885067

2015
dbSNP: rs1553551705
rs1553551705
SATB2
C 0.700 CausalMutation CLINVAR Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing. 25885067

2015
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Further delineation of the SATB2 phenotype. 24301056

2014
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence. 24363063

2014
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR The clinical significance of small copy number variants in neurodevelopmental disorders. 25106414

2014
dbSNP: rs1553551705
rs1553551705
SATB2
C 0.700 CausalMutation CLINVAR Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence. 24363063

2014
dbSNP: rs1553551705
rs1553551705
SATB2
C 0.700 CausalMutation CLINVAR Further delineation of the SATB2 phenotype. 24301056

2014
dbSNP: rs1553551705
rs1553551705
SATB2
C 0.700 CausalMutation CLINVAR The clinical significance of small copy number variants in neurodevelopmental disorders. 25106414

2014
dbSNP: rs1553551705
rs1553551705
SATB2
C 0.700 CausalMutation CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776

2013
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene. 23925499

2013
dbSNP: rs1553551705
rs1553551705
SATB2
C 0.700 CausalMutation CLINVAR Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene. 23925499

2013