|
rs1555743005
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.
|
24044690 |
2013 |
|
rs1555743005
|
|
Muscle hypotonia
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
|
21706002 |
2011 |
|
rs1555743005
|
|
Muscle hypotonia
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
|
26647312 |
2016 |
|
rs1555743005
|
|
Muscle hypotonia
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.
|
28100473 |
2017 |
|
rs1555743005
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
|
27901041 |
2017 |
|
rs1555743005
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
|
26647312 |
2016 |
|
rs1555743005
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
|
27075689 |
2016 |
|
rs1555743005
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.
|
28955728 |
2017 |
|
rs1555743005
|
|
Muscle hypotonia
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.
|
23383720 |
2013 |
|
rs1555743005
|
|
Muscle hypotonia
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Synaptic, transcriptional and chromatin genes disrupted in autism.
|
25363760 |
2014 |
|
rs1555743005
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Synaptic, transcriptional and chromatin genes disrupted in autism.
|
25363760 |
2014 |
|
rs1555743005
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.
|
28100473 |
2017 |
|
rs1555743005
|
|
Muscle hypotonia
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
|
27901041 |
2017 |
|
rs1555743005
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.
|
23383720 |
2013 |
|
rs1555743005
|
|
Muscle hypotonia
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
|
27075689 |
2016 |
|
rs1555743005
|
|
Muscle hypotonia
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.
|
28955728 |
2017 |
|
rs1555743005
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
|
21706002 |
2011 |
|
rs1555743005
|
|
Muscle hypotonia
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.
|
24044690 |
2013 |
|
rs1555743003
|
|
Cupped ears (finding)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
|
27075689 |
2016 |
|
rs1555743003
|
|
Pediatric failure to thrive
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
|
27075689 |
2016 |
|
rs1555743003
|
|
Posteriorly rotated ear
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
|
27075689 |
2016 |
|
rs1555743003
|
|
Short palpebral fissure
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
|
27075689 |
2016 |
|
rs1555743003
|
|
Thin lips
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
|
27075689 |
2016 |
|
rs1555743003
|
|
Kyphoscoliosis deformity of spine
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
|
27075689 |
2016 |
|
rs1555743003
|
|
Broad hallux
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
|
27075689 |
2016 |