Publication
Germ-line mutation analysis in patients with von Hippel-Lindau disease in Japan: an extended study of 77 families.
Authors not recorded
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
Abstract (excerpt)
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Data not yet available
Linked entities
Linked entities (7)
How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.
Validated 7
- geneVHLcivic_curation1.00
- variantVHL C162Y (c.485G>A)civic_curation1.00
- variantVHL F76del (c.227_229del)civic_curation1.00
- variantVHL N131S (c.392A>G)civic_curation1.00
- variantVHL R113* (c.337C>T)civic_curation1.00
- variantVHL R167Q (c.500G>A)civic_curation1.00
- variantVHL R167W (c.499C>T)civic_curation1.00
Curated evidence
Evidence citing this paper (45)
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 10761708
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| VHL Splice Site (c.463+1G>A)1 | ||||||||
| (predisposing) | Renal Cell CarcinomaCURATED_BROADER | Predisposing | C | Supports Predisposition | 3 | submitted | EID5398A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families. Renal cell carcinoma occurred predominantly in non… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL C162R (c.484T>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10618A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL C162Y (c.485G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID5383A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL c.329ins21 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10613A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL c.358ins21 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10615A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL c.563ins201 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10624A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL C77Sfs*82 (c.230del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10543A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL D143Efs*13 (c.429_438del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10616A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL D198fs (c.592_593delCT)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5721A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families. This mutation was found in a VHL patient with hema… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL E173Rfs*29 (c.516del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10620A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL F76del (c.227_229del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID5386A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL G93D (c.278G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10550A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL L118P (c.353T>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10614A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL L158V (c.472C>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5389A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families. Missense mutations within the elongin binding doma… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL L178P (c.533T>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10621A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL L198Gfs*57 (c.592_593del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10622A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL N131S (c.392A>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID5380A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL N78H (c.232A>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10544A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL N78T (c.233A>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10545A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL N90I (c.269A>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10549A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL P172fs (c.516delT)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5394A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families. Renal cell carcinoma occurred predominantly in non… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL P81S (c.241C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5390A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families. Missense mutations within the elongin binding doma… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL P86L (c.257C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10547A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL P86S (c.256C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5391A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families. Missense mutations within the elongin binding doma… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL Q132* (c.394C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5384A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families. o Renal cell carcinoma occurred predominantly in n… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL Q73FS (c.215delC)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5385A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families. Renal cell carcinoma occurred predominantly in non… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL Q96del (c.287_289del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10551A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL Q96_P97delinsH (c.288_290del)2 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | rejected | EID10553A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10612A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL Q96P (c.287A>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10552A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL R113* (c.337C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID5379A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families, using SSCP, direct sequencing, and Southern Blot a… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL R167Q (c.500G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID5381A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL R167W (c.499C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID5382A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL S111R (c.333C>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5392A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families. Missense mutations within the elongin binding doma… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL S168FS (c.503delG)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5393A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families. Renal cell carcinoma occurred predominantly in non… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL S168Tfs*2 (c.503_513del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10619A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL S80Ifs*79 (c.239del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10546A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL Splice Site (c.464-1G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5387A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families. Renal cell carcinoma occurred predominantly in non… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL Splice Site (c.464-1G>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5388A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families. Renal cell carcinoma occurred predominantly in non… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL T157I (c.470C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10623A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL V155M (c.463G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10617A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL W117C (c.351G>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5395A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families. Missense mutations within the elongin binding doma… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL W88S (c.263G>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10548A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL Y112N (c.334T>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5396A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families. Missense mutations within the elongin binding doma… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL Y98C (c.293A>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5397A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families. Missense mutations within the elongin binding doma… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |