rs730882035
|
|
Von Hippel-Lindau Syndrome
|
A |
0.850 |
CausalMutation
|
CLINVAR |
Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel-Lindau disease.
|
24707167 |
2014 |
rs730882035
|
|
Von Hippel-Lindau Syndrome
|
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
|
|
Von Hippel-Lindau Syndrome
|
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
|
|
Von Hippel-Lindau Syndrome
|
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
|
|
Von Hippel-Lindau Syndrome
|
A |
0.850 |
CausalMutation
|
CLINVAR |
Molecular basis of von Hippel-Lindau syndrome in Chinese patients.
|
21362373 |
2011 |
rs730882035
|
|
Von Hippel-Lindau Syndrome
|
A |
0.850 |
CausalMutation
|
CLINVAR |
Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.
|
15300849 |
2004 |
rs730882035
|
|
Von Hippel-Lindau Syndrome
|
A |
0.850 |
CausalMutation
|
CLINVAR |
Germ-line mutations in nonsyndromic pheochromocytoma.
|
12000816 |
2002 |
rs730882035
|
|
Von Hippel-Lindau Syndrome
|
A |
0.850 |
CausalMutation
|
CLINVAR |
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.
|
9829911 |
1998 |
rs730882035
|
|
Von Hippel-Lindau Syndrome
|
A |
0.850 |
CausalMutation
|
CLINVAR |
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.
|
7728151 |
1995 |
rs28940298
|
|
Von Hippel-Lindau Syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia.
|
21606165 |
2011 |
rs28940298
|
|
Von Hippel-Lindau Syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Involvement of oxygen-sensing pathways in physiologic and pathologic erythropoiesis.
|
19494350 |
2009 |
rs28940298
|
|
Von Hippel-Lindau Syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
VHL type 2B mutations retain VBC complex form and function.
|
19030229 |
2008 |
rs28940298
|
|
Von Hippel-Lindau Syndrome
|
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
|
|
Von Hippel-Lindau Syndrome
|
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
|
|
Von Hippel-Lindau Syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations.
|
15574766 |
2004 |
rs28940298
|
|
Von Hippel-Lindau Syndrome
|
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
|
|
Von Hippel-Lindau Syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Endemic polycythemia in Russia: mutation in the VHL gene.
|
11987242 |
2003 |
rs28940298
|
|
Von Hippel-Lindau Syndrome
|
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
|
|
Von Hippel-Lindau Syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Congenital polycythemia in Chuvashia.
|
9058738 |
1997 |
rs28940298
|
|
Von Hippel-Lindau Syndrome
|
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 |
rs104893824
|
|
Von Hippel-Lindau Syndrome
|
C |
0.810 |
CausalMutation
|
CLINVAR |
Long-term outcomes, branch-specific expressivity, and disease-related mortality in von Hippel-Lindau type 2A.
|
21713522 |
2011 |
rs104893824
|
|
Von Hippel-Lindau Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes.
|
19602254 |
2009 |
rs104893824
|
|
Von Hippel-Lindau Syndrome
|
C |
0.810 |
CausalMutation
|
CLINVAR |
VHL type 2B mutations retain VBC complex form and function.
|
19030229 |
2008 |
rs104893824
|
|
Von Hippel-Lindau Syndrome
|
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
|
|
Von Hippel-Lindau Syndrome
|
C |
0.810 |
CausalMutation
|
CLINVAR |
In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations.
|
15574766 |
2004 |