rs775266057
|
RAD21;UTP23
|
MUNGAN SYNDROME
|
T |
0.800 |
CausalMutation |
CLINVAR |
Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction.
|
25575569 |
2015 |
rs387907212
|
Entrez Id: |
5885 |
Gene Symbol: |
RAD21 |
RAD21
|
CORNELIA DE LANGE SYNDROME 4
|
|
0.800 |
GeneticVariation |
UNIPROT |
RAD21 mutations cause a human cohesinopathy.
|
22633399 |
2012 |
rs387907212
|
Entrez Id: |
5885 |
Gene Symbol: |
RAD21 |
RAD21
|
CORNELIA DE LANGE SYNDROME 4
|
C |
0.800 |
CausalMutation |
CLINVAR |
RAD21 mutations cause a human cohesinopathy.
|
22633399 |
2012 |
rs387907213
|
RAD21;UTP23
|
CORNELIA DE LANGE SYNDROME 4
|
G |
0.800 |
CausalMutation |
CLINVAR |
RAD21 mutations cause a human cohesinopathy.
|
22633399 |
2012 |
rs387907213
|
RAD21;UTP23
|
CORNELIA DE LANGE SYNDROME 4
|
|
0.800 |
GeneticVariation |
UNIPROT |
RAD21 mutations cause a human cohesinopathy.
|
22633399 |
2012 |
rs775266057
|
RAD21;UTP23
|
MUNGAN SYNDROME
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs10098598
|
RAD21;UTP23
|
Schizoaffective disorder, bipolar type
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association study identifies 30 loci associated with bipolar disorder.
|
31043756 |
2019 |
rs1563686762
|
RAD21;UTP23
|
Long eyelashes
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
|
30125677 |
2019 |
rs1563686762
|
RAD21;UTP23
|
Single transverse palmar crease
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
|
30125677 |
2019 |
rs1563686762
|
RAD21;UTP23
|
Global developmental delay
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
|
30125677 |
2019 |
rs1563686762
|
RAD21;UTP23
|
Highly arched eyebrow
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
|
30125677 |
2019 |
rs1563686762
|
RAD21;UTP23
|
Prominent digit pad
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
|
30125677 |
2019 |
rs1563686762
|
RAD21;UTP23
|
Micrognathism
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
|
30125677 |
2019 |
rs1563686762
|
RAD21;UTP23
|
Abnormality of the genital system
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
|
30125677 |
2019 |
rs1563686762
|
RAD21;UTP23
|
Low-set, posteriorly rotated ears
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
|
30125677 |
2019 |
rs1563686762
|
RAD21;UTP23
|
Synophrys
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
|
30125677 |
2019 |
rs1563686762
|
RAD21;UTP23
|
Microcephaly (physical finding)
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
|
30125677 |
2019 |
rs1563686762
|
RAD21;UTP23
|
Poor school performance
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
|
30125677 |
2019 |
rs1563686762
|
RAD21;UTP23
|
Acid reflux
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
|
30125677 |
2019 |
rs1563686762
|
RAD21;UTP23
|
Blepharoptosis
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
|
30125677 |
2019 |
rs1563686762
|
RAD21;UTP23
|
Congenital diaphragmatic hernia
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
|
30125677 |
2019 |
rs1563686762
|
RAD21;UTP23
|
CORNELIA DE LANGE SYNDROME 4
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
|
30125677 |
2019 |
rs1563686762
|
RAD21;UTP23
|
Byzanthine arch palate
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
|
30125677 |
2019 |
rs1563687901
|
Entrez Id: |
5885 |
Gene Symbol: |
RAD21 |
RAD21
|
CORNELIA DE LANGE SYNDROME 4
|
TG |
0.700 |
CausalMutation |
CLINVAR |
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
|
30158690 |
2019 |
rs1563689416
|
Entrez Id: |
5885 |
Gene Symbol: |
RAD21 |
RAD21
|
CORNELIA DE LANGE SYNDROME 4
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
|
30158690 |
2019 |