rs1064794957
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
Multiple congenital anomalies
A
0.700
GeneticVariation
CLINVAR
A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID).
29180260
2018
rs1064794957
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
Multiple congenital anomalies
A
0.700
GeneticVariation
CLINVAR
An Activating Mutation in STAT3 Results in Neonatal Diabetes Through Reduced Insulin Synthesis.
28073828
2017
rs1064794957
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
Multiple congenital anomalies
A
0.700
GeneticVariation
CLINVAR
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.
25359994
2015
rs1064794957
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
Multiple congenital anomalies
A
0.700
GeneticVariation
CLINVAR
A novel human STAT3 mutation presents with autoimmunity involving Th17 hyperactivation.
26343524
2015
rs1064794957
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
Multiple congenital anomalies
A
0.700
GeneticVariation
CLINVAR
54th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE). Barcelona, Spain, October 1-3, 2015: Abstracts.
26394394
2015
rs1064794957
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
Multiple congenital anomalies
A
0.700
GeneticVariation
CLINVAR
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
25038750
2014
rs1064794957
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
Multiple congenital anomalies
A
0.700
GeneticVariation
CLINVAR
Inborn errors of human JAKs and STATs.
22520845
2012
rs1064794957
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
Multiple congenital anomalies
A
0.700
GeneticVariation
CLINVAR
Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey.
22751495
2012
rs1064794957
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
Multiple congenital anomalies
A
0.700
GeneticVariation
CLINVAR
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.
20159255
2010
rs1064794957
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
Multiple congenital anomalies
A
0.700
GeneticVariation
CLINVAR
Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome.
18602572
2008
rs1064794957
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
Multiple congenital anomalies
A
0.700
GeneticVariation
CLINVAR
STAT3 mutations in the hyper-IgE syndrome.
17881745
2007