rs5030820
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical management of pheochromocytoma and paraganglioma in Singapore: missed opportunities for genetic testing.
|
28944243 |
2017 |
rs1553620318
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma.
|
27811160 |
2016 |
rs28940298
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.
|
27651169 |
2016 |
rs398123481
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Germline mutations in the VHL gene associated with 3 different renal lesions in a Chinese von Hippel-Lindau disease family.
|
27057652 |
2016 |
rs5030622
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.
|
27527340 |
2016 |
rs5030802
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma.
|
27439424 |
2016 |
rs5030802
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A Case of von Hippel-Lindau Disease with Colorectal Adenocarcinoma, Renal Cell Carcinoma and Hemangioblastomas.
|
25715769 |
2016 |
rs5030802
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.
|
27527340 |
2016 |
rs5030804
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.
|
27527340 |
2016 |
rs5030804
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma.
|
27439424 |
2016 |
rs5030818
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
VHL Germline Mutations in Argentinian Patients with Clinical Diagnoses or Single Typical Manifestations of Type 1 von Hippel-Lindau Disease.
|
27617348 |
2016 |
rs5030818
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.
|
27527340 |
2016 |
rs5030820
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma.
|
27439424 |
2016 |
rs5030820
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma.
|
27539324 |
2016 |
rs5030821
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry.
|
25867206 |
2016 |
rs5030821
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma.
|
27439424 |
2016 |
rs5030827
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Circumscribed sebaceous neoplasms: a morphological, immunohistochemical and molecular analysis.
|
27311873 |
2016 |
rs730882034
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.
|
27527340 |
2016 |
rs730882035
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.
|
27527340 |
2016 |
rs869025615
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and therapeutic relevance.
|
27530247 |
2016 |
rs869025621
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Aggregation dynamics and identification of aggregation-prone mutants of the von Hippel-Lindau tumor suppressor protein.
|
27179072 |
2016 |
rs1131690954
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
A Novel von Hippel Lindau Gene Intronic Variant and Its Reclassification from VUS to Pathogenic: the Impact on a Large Family.
|
26323595 |
2015 |
rs1131690961
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Insights into Cullin-RING E3 ubiquitin ligase recruitment: structure of the VHL-EloBC-Cul2 complex.
|
25661653 |
2015 |
rs1131690962
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Unique molecular alteration patterns in von Hippel-Lindau (VHL) gene in a cohort of sporadic renal cell carcinoma patients from Pakistan.
|
24727139 |
2015 |
rs1553619976
|
|
CA |
0.700 |
CausalMutation |
CLINVAR |
Unique molecular alteration patterns in von Hippel-Lindau (VHL) gene in a cohort of sporadic renal cell carcinoma patients from Pakistan.
|
24727139 |
2015 |