rs74315522
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Shprintzen syndrome
0.800
GeneticVariation
UNIPROT
Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.
27467454
2016
rs74315522
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Shprintzen syndrome
0.800
GeneticVariation
UNIPROT
Practical guidelines for managing adults with 22q11.2 deletion syndrome.
25569435
2015
rs74315522
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Shprintzen syndrome
0.800
GeneticVariation
UNIPROT
We report a novel heterozygous missense mutation, H194Q , in a familial case of Shprintzen syndrome and show that this and the two previously reported missense mutations result in gain of function, possibly through stabilization of the protein dimer DNA complex.
17273972
2007
rs74315522
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Shprintzen syndrome
0.800
GeneticVariation
UNIPROT
Role of TBX1 in human del22q11.2 syndrome.
14585638
2003
rs74315522
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Shprintzen syndrome
G
0.800
CausalMutation
CLINVAR
rs1978060
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
G
0.700
GeneticVariation
GWASCAT
Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese.
31417091
2019
rs1978060
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Adolescent idiopathic scoliosis
G
0.700
GeneticVariation
GWASCAT
Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese.
31417091
2019
rs1555896474
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray.
26884814
2016
rs41298838
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
DiGeorge Syndrome
0.700
GeneticVariation
UNIPROT
Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.
27467454
2016
rs1555896474
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
Practical guidelines for managing adults with 22q11.2 deletion syndrome.
25569435
2015
rs1555896474
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening.
27617111
2015
rs1555896474
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
22q11 deletion syndrome: current perspective.
26056486
2015
rs41297816
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Schizophrenia
G
0.700
GeneticVariation
GWASCAT
Genome-wide association study of schizophrenia in Ashkenazi Jews.
26198764
2015
rs1555896474
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion.
24998776
2014
rs2238776
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Prostate carcinoma
G
0.700
GeneticVariation
GWASCAT
A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.
25217961
2014
rs1555896474
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
Understanding the role of Tbx1 as a candidate gene for 22q11.2 deletion syndrome.
23996541
2013
rs2238776
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Interleukin 10 Measurement
A
0.700
GeneticVariation
GWASCAT
Genome-wide associated loci influencing interleukin (IL)-10, IL-1Ra, and IL-6 levels in African Americans.
22205395
2012
rs1555896474
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
Velo-cardio-facial syndrome: 30 Years of study.
18636631
2008
rs1555896474
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.
17273972
2007
rs28939675
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Shprintzen syndrome
0.700
GeneticVariation
UNIPROT
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.
17273972
2007
rs28939675
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Shprintzen syndrome
0.700
GeneticVariation
UNIPROT
Role of TBX1 in human del22q11.2 syndrome.
14585638
2003
rs1555896474
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects.
11748311
2001
rs41298838
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
DiGeorge Syndrome
0.700
GeneticVariation
UNIPROT
Velofacial hypoplasia (Sedlackova syndrome): a variant of velocardiofacial (Shprintzen) syndrome and part of the phenotypical spectrum of del 22q11.2.
11195019
2001
rs1555896474
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.
1349199
1992
rs1445910672
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Tetralogy of Fallot
A
0.700
GeneticVariation
CLINVAR