rs267607040
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
0.020
GeneticVariation
BEFREE
We performed exome sequencing of eight aCML s and identified somatic alterations of SETBP1 (encoding a p.Gly870Ser alteration) in two cases.
23222956
2013
rs267607040
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
0.020
GeneticVariation
BEFREE
In the patient diagnosed with aCML in bone marrow study, two CSF3R mutations, (T618I and Y779*) a SETBP1 mutation (G870S ) and an U2AF1 mutation (Q157P), were identified by high-coverage next-generation sequencing.
31692115
2020
rs267607038
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Schinzel-Giedion syndrome
C
0.800
CausalMutation
CLINVAR
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
28346496
2017
rs267607038
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Schinzel-Giedion syndrome
C
0.800
CausalMutation
CLINVAR
West syndrome in a patient with Schinzel-Giedion syndrome.
25028416
2015
rs267607038
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Schinzel-Giedion syndrome
C
0.800
CausalMutation
CLINVAR
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
20436468
2010
rs267607039
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Schinzel-Giedion syndrome
A
0.800
CausalMutation
CLINVAR
rs267607040
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Schinzel-Giedion syndrome
A
0.800
CausalMutation
CLINVAR
rs267607041
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Schinzel-Giedion syndrome
C
0.800
CausalMutation
CLINVAR
rs267607042
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Schinzel-Giedion syndrome
A
0.800
CausalMutation
CLINVAR
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
20436468
2010
rs267607042
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Schinzel-Giedion syndrome
A
0.800
CausalMutation
CLINVAR
Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective.
25852444
2015
rs267607042
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Schinzel-Giedion syndrome
C
0.800
GeneticVariation
CLINVAR
rs267607042
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Schinzel-Giedion syndrome
A
0.800
CausalMutation
CLINVAR
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
28346496
2017
rs267607042
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Schinzel-Giedion syndrome
A
0.800
CausalMutation
CLINVAR
Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.
25663181
2015
rs1057519594
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
CT
0.700
CausalMutation
CLINVAR
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
25217958
2014
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Dysmorphic features
T
0.700
CausalMutation
CLINVAR
West syndrome in a patient with Schinzel-Giedion syndrome.
25028416
2015
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria.
18398855
2008
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
20436468
2010
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Dysmorphic features
T
0.700
CausalMutation
CLINVAR
Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.
21037274
2011
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Dysmorphic features
T
0.700
CausalMutation
CLINVAR
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
24267886
2013
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Dysmorphic features
T
0.700
CausalMutation
CLINVAR
Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.
25663181
2015
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
24267886
2013
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
28346496
2017
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.
21037274
2011
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
25217958
2014
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
West syndrome in a patient with Schinzel-Giedion syndrome.
25028416
2015