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 |
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 |
Germ-line mutations in nonsyndromic pheochromocytoma.
|
12000816 |
2002 |
rs730882035
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.
|
7728151 |
1995 |
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 |
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 |
Molecular basis of von Hippel-Lindau syndrome in Chinese patients.
|
21362373 |
2011 |
rs730882035
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.
|
9829911 |
1998 |
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 |
Congenital polycythemia in Chuvashia.
|
9058738 |
1997 |
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 |
In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations.
|
15574766 |
2004 |
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 |
rs28940298
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Endemic polycythemia in Russia: mutation in the VHL gene.
|
11987242 |
2003 |
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 |
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 |
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 |
rs104893824
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
VHL type 2B mutations retain VBC complex form and function.
|
19030229 |
2008 |
rs104893824
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A.
|
8863170 |
1996 |
rs104893824
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Hypoxia-inducible factor linked to differential kidney cancer risk seen with type 2A and type 2B VHL mutations.
|
17526729 |
2007 |
rs104893824
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Germ-line mutation analysis in patients with von Hippel-Lindau disease in Japan: an extended study of 77 families.
|
10761708 |
2000 |
rs104893824
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.
|
7728151 |
1995 |