rs730882035
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel-Lindau disease.
|
24707167 |
2014 |
rs730882035
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
We report here an atypical family bearing two VHL gene mutations in cis (R200W and R161Q), together with phenotypic analysis, structural modeling, functional, and transcriptomic studies of these mutants in comparison with classical mutants involved in the different VHL phenotypes.
|
25371412 |
2014 |
rs730882035
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees.
|
23842656 |
2013 |
rs730882035
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations.
|
21715564 |
2011 |
rs730882035
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Molecular basis of von Hippel-Lindau syndrome in Chinese patients.
|
21362373 |
2011 |
rs730882035
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.
|
15300849 |
2004 |
rs730882035
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Germ-line mutations in nonsyndromic pheochromocytoma.
|
12000816 |
2002 |
rs730882035
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.
|
9829911 |
1998 |
rs730882035
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.
|
7728151 |
1995 |
rs28940298
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia.
|
21606165 |
2011 |
rs28940298
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Involvement of oxygen-sensing pathways in physiologic and pathologic erythropoiesis.
|
19494350 |
2009 |
rs28940298
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
VHL type 2B mutations retain VBC complex form and function.
|
19030229 |
2008 |
rs28940298
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis.
|
17992257 |
2007 |
rs28940298
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.
|
16210343 |
2006 |
rs28940298
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations.
|
15574766 |
2004 |
rs28940298
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors.
|
14726398 |
2004 |
rs28940298
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Endemic polycythemia in Russia: mutation in the VHL gene.
|
11987242 |
2003 |
rs28940298
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
The gene associated with von Hippel-Lindau syndrome, VHL, maps to this region, and homozygosity with respect to a C-->T missense mutation in VHL, causing an arginine-to-tryptophan change at amino-acid residue 200 (Arg200Trp), was identified in all individuals affected with Chuvash polycythemia.
|
12415268 |
2002 |
rs28940298
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Congenital polycythemia in Chuvashia.
|
9058738 |
1997 |
rs28940298
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.
|
8956040 |
1996 |
rs5030804
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlations in Chinese von Hippel-Lindau disease patients.
|
28388566 |
2017 |
rs5030821
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Genotype-Phenotype Correlation in Patients With Germline Mutations of VHL, RET, SDHB, and SDHD Genes: Thai Experience.
|
28469506 |
2017 |
rs730882034
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
Coexistence of VHL Disease and CPT2 Deficiency: A Case Report.
|
27034144 |
2016 |
rs730882034
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.
|
27527340 |
2016 |
rs730882034
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
Germline mutations in the VHL gene associated with 3 different renal lesions in a Chinese von Hippel-Lindau disease family.
|
27057652 |
2016 |