rs121907900
|
|
|
0.710 |
GeneticVariation |
BEFREE |
WT1 gene mutations have been described in 46,XY patients with ambiguous genitalia or complete gonadal dysgenesis with or without Wilms' tumor, nephropathy, gonadoblastoma, and other defects, e.g., cryptorchidism or hypospadias. p.R462W is a hot spot mutation in exon 9 and is the most common mutation in patients with Denys-Drash syndrome.
|
29320783 |
2017 |
rs121907900
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs1564969626
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
|
27241786 |
2016 |
rs121907909
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
|
23515051 |
2013 |
rs587776576
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
|
23515051 |
2013 |
rs121907909
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children.
|
21851196 |
2011 |
rs1554939839
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development.
|
15150775 |
2004 |
rs587776576
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy?
|
10762296 |
2000 |
rs121907909
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome.
|
10571943 |
1999 |
rs587776576
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.
|
9499425 |
1998 |
rs121907909
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology.
|
9108089 |
1997 |
rs1423753702
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology.
|
9108089 |
1997 |
rs587776576
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
|
9398852 |
1997 |
rs587776576
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.
|
1302008 |
1992 |
rs1060501253
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121907901
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121907902
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121907903
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121907904
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121907905
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121907906
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121907907
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554945232
|
|
TC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554946500
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554946600
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|