| VHL L188V (c.562C>G)16 |
|---|
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5038Germline mutations were found in all 93 families that fulfilled clinical criteria of VHL disease. Mutations predicted to inactivate the VHL protein were associated with renal cell carcinoma and hemang… (full text at CIViC) PMID 9829911 · Stolle et al., 1998 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID5409Peripheral blood from unrelated patients with pheochromocytoma was tested for mutations of proto-oncogene RET, tumor suppressor gene VHL, succinate dehydrogenase subunit D (SDHD) gene, and the succina… (full text at CIViC) PMID 12000816 · Neumann et al., 2002 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6719Nine individuals from 2 different families were found to have a missense mutation (c.562C>G) substituting leucine with valine at amino acid 259. All 9 patients had pheochromocytoma, 2 of the 9 patient… (full text at CIViC) PMID 7563486 · Neumann et al., 1995 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID788936 VHL-related pheochromocytomas (from 21 patients) and 10 VHL-related CNS hemangioblastomas (from 6 patients) were studied using comparative genomic hybridization (CGH) to detect genetic imbalances. … (full text at CIViC) PMID 11850829 · Lui et al., 2002 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID8442Fourty-four of 389 patients with VHL (between 1988-1999) screened positive for PNETs either by pathologic analysis of tissue specimens or by characteristic radiographic appearance on CT and MRI. VHL g… (full text at CIViC) PMID 11114638 · Libutti et al., 2000 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID8492Of 14 patients with retinal vascular proliferation and known family history of VHL disease, 12 patients were enrolled in an approved study protocol at the National Cancer Institute. 11 of these patien… (full text at CIViC) PMID 18474773 · Wong et al., 2008 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10846A 63-year-old male without family history presented with cough, 20-pound weight loss, and right lower lung infiltrate on chest X-ray. A CT of the chest confirmed a mass in the right lower lobe, and bi… (full text at CIViC) PMID 34720947 · Kuhlman et al., 2021 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10952216 patients with clinically expected VHL disease due to family history or presence of VHL typical tumours were routinely examined in an eye centre in Germany between January 2019 and January 2020, ma… (full text at CIViC) PMID 33720516 · Reich et al., 2021 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | rejected | EID5367Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in 2 unrelated, VHL type 2 families of 9 individuals altogether (family VHL 37, VHL… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | submitted | EID5571Of the 13 polycythemic patients analyzed, 7 were found to have VHL mutations; all 7 had both VHL alleles mutated. This missense mutation was found in 2 compound heterozygotes with polycythemia (patien… (full text at CIViC) PMID 12844285 · Pastore et al., 2003 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | submitted | EID5657A family with seven members affected with pheochromocytomas was analyzed for mutations in the RET proto-oncogene and VHL gene. This missense mutation was identified in the family. Cosegregation with d… (full text at CIViC) PMID 8772572 · Ritter et al., 1996 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 2 | submitted | EID5854Case report of 5 Caucasian patients with mutations in the VHL gene and polycythemia. Patient 1 described here was a compound heterozygote with the above mutation and R79C (c.235C>T). ACMG evidence cod… (full text at CIViC) PMID 15642680 · Bento et al., 2005 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 2 | submitted | EID64953-year-old white male child presented with renal cell carcinoma. Genetic testing confirmed 2 mutations: a translocation between chromosome X and 1 t(X;1)(p11.2; p34.3). A germline missense mutation wa… (full text at CIViC) PMID 15383938 · Parast et al., 2004 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 2 | submitted | EID8534A 78 year old female had malignant mesothelioma, she had no other cancer diagnosis and no known exposure to asbestos. There was family history of pancreatic cancer and hepatic cancer. Germline genetic… (full text at CIViC) PMID 30113886 · Panou et al., 2018 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 2 | submitted | EID872021 consenting patients treated for pheochromocytoma over a 10-yr period at the University of Freiburg Medical Center were affected by VHL and donated peripheral blood for germline DNA analyses. 3 of t… (full text at CIViC) PMID 11134110 · Bender et al., 2000 · Open in CIViC | civic |
| (functional) | —UNRESOLVED | Functional | D | Supports Loss Of Function | 3 | submitted | EID8205An in-vitro functional study of mutants related to Type 2C VHL disease. Type 2C pVHL mutants retain the ability to bind elongin B/C and Cul2, as well as downregulate HIF2alpha under normoxic condition… (full text at CIViC) PMID 11331612 · Hoffman et al., 2001 · Open in CIViC | civic |