|
rs730882035
|
|
|
0.850 |
GeneticVariation |
BEFREE |
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
|
|
|
0.850 |
GeneticVariation |
BEFREE |
p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees.
|
23842656 |
2013 |
|
rs730882035
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Genetic analysis helped identify this unprecedented condition; the patient harbored a heterozygous missense mutation c.482G>A in exon 3 of the VHL gene, indicating von Hippel-Lindau syndrome.
|
20960261 |
2010 |
|
rs730882035
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Germline mutation of von Hippel-Lindau (VHL) gene 695 G>A (R161Q) in a patient with a peculiar phenotype with type 2C VHL syndrome.
|
17102087 |
2006 |
|
rs730882035
|
|
|
0.850 |
GeneticVariation |
BEFREE |
We identified a missense mutation of VHL gene, 695 G --> A (R161Q), in a Japanese kindred with type 2A VHL syndrome.
|
14767570 |
2004 |
|
rs28940298
|
|
|
0.820 |
GeneticVariation |
BEFREE |
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 |
|
rs28940298
|
|
|
0.820 |
GeneticVariation |
BEFREE |
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 |
|
rs104893829
|
|
|
0.810 |
GeneticVariation |
BEFREE |
The VHL p.P81S mutation is most likely a low-penetrant pathogenic variant predisposing to RCC development.
|
28503092 |
2017 |
|
rs119103277
|
|
|
0.810 |
GeneticVariation |
BEFREE |
This pedigree represents a rare link between p.W88X nonsense mutation (genotype) and VHL disease type 2 (phenotype), which has not been previously described.
|
25069792 |
2015 |
|
rs5030802
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.
|
25078357 |
2014 |
|
rs5030821
|
|
|
0.810 |
GeneticVariation |
BEFREE |
About one third of VHL mutations are missense point mutations, with R167Q being the most common VHL point mutation in hereditary VHL disease.
|
24755468 |
2014 |
|
rs587780077
|
|
|
0.810 |
GeneticVariation |
BEFREE |
This is the first study that identified VHL p.A149S mutation in a Turkish family with VHL syndrome.
|
23673869 |
2014 |
|
rs5030804
|
|
|
0.810 |
GeneticVariation |
BEFREE |
p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees.
|
23842656 |
2013 |
|
rs5030809
|
|
|
0.810 |
GeneticVariation |
BEFREE |
We observed intracranial aneurysms in 2 patients with von Hippel-Lindau (VHL) disease and the known disease-causing mutation c.292T > C (p.Tyr98His) in the VHL tumor suppressor gene.
|
23434161 |
2013 |
|
rs5030805
|
|
|
0.810 |
GeneticVariation |
BEFREE |
To our knowledge, the Ser80Ile mutation has not been previously described in VHL</span> type 2 patients with high risk of pheochromocytoma and renal cell cancer.
|
18416845 |
2008 |
|
rs5030824
|
|
|
0.810 |
GeneticVariation |
BEFREE |
A type 2C pVHL mutant (V188L), which is associated with a PHE only phenotype (and had been shown previously to retain the ability to promote HIF ubiquitylation), retained the ability to suppress CCND1expression suggesting that loss of pVHL-mediated suppression of cyclin D1 is not necessary for PHE development in VHL disease.
|
12097293 |
2002 |
|
rs730882034
|
|
|
0.810 |
GeneticVariation |
BEFREE |
DNA sequence analysis showed two VHL gene mutations, P25L and P86R, in an individual with a clinical diagnosis of VHL disease.
|
11257211 |
2001 |
|
rs104893824
|
|
|
0.810 |
GeneticVariation |
BEFREE |
We have identified a family segregating von Hippel-Lindau (VHL) disease with a previously unreported T547A mutation in exon 1 of the VHL gene that causes a Tyr112 to Asn missense alteration in the protein.
|
10533030 |
1999 |
|
rs1064794272
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The current case of carotid body paraganglioma in patient with the 393C>A (N131K) missense mutation in the VHL gene, supports association of this specific mutation and VHL disease type 2, and suggests its correlation with susceptibility to paragangliomas.
|
21384277 |
2011 |
|
rs1064794272
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Previous patients with the N131K or N131T mutation in pVHL developed VHLD type 2B with RCC or VHLD type 1 without PHE, respectively.
|
17001110 |
2006 |
|
rs869025648
|
|
|
0.710 |
GeneticVariation |
BEFREE |
A recurrent synonymous VHL variant (c.414A>G, p.Pro138Pro) confers susceptibility to PHEO and VHL disease through splice disruption, leading to VHL dysfunction.
|
30946460 |
2019 |
|
rs869025667
|
|
|
0.710 |
GeneticVariation |
BEFREE |
However, we here describe an unusual phenotype with a novel missense mutation, p.L198P, and report the finding that VHL disease can be associated with Goldenhar syndrome.
|
24555745 |
2014 |
|
rs5030812
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Based on this work, we propose that the nsSNP with a SNPid of rs5030812 is an important candidate for the cause of von Hippel-Lindau syndrome via the VHL gene.
|
18836774 |
2008 |
|
rs35460768
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Sequence analysis identified the VHL P25L variant in 7 of 14 family members, one of whom had a single retinal hemangioma, which is in itself insufficient to diagnose VHL disease.
|
16884327 |
2006 |
|
rs35460768
|
|
|
0.020 |
GeneticVariation |
BEFREE |
P25L is a rare variant of the VHL gene and cannot be considered a cause of VHL disease.
|
11257211 |
2001 |