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Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe.

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Hum Genet1996PMID 8707293stubpubmedProvenance
Source
PubMed
Retrieved
Sep 8, 2026
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normalized (units and labels harmonized; values unchanged)
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ING-CIVIC-20260908-000001
Published

Abstract

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Linked entities

Linked entities (28)

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 28

Curated evidence

Evidence citing this paper (29)

civicProvenance
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
8707293
Run
ING-CIVIC-20260908-000001
Open at source
CuratedShowing 1–29 of 29 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.
TherapyCancerTypeLevelDirection · significanceRating (1–5)StatusEvidenceSource
VHL R161* (c.481C>T)1
(predisposing)Renal Cell CarcinomaCURATED_BROADERPredisposingCSupports Uncertain Significance3accepted
EID5375

Of 65 VHL families from central Europe, 53 were identified with germline mutations. This nonsense mutation was found in 2 unrelated, German families. One VHL type 1 family of 2 affected individuals ha… (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

civic
VHL S183* (c.548C>A)1
(predisposing)Renal Cell CarcinomaCURATED_BROADERPredisposingCSupports Uncertain Significance3accepted
EID5370

Of 65 VHL families from central Europe, 53 were identified with germline mutations. This nonsense mutation was found in 3 Italian, VHL type 1 family members. Two had retinal angiomas, 2 had hemangiobl… (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

civic
VHL S80N (c.239G>A)1
(predisposing)Renal Cell CarcinomaCURATED_BROADERPredisposingCSupports Uncertain Significance2accepted
EID5371

Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in a Slovakian, VHL type 1 family of 13 affected individuals. Seven had retinal ang… (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

civic
VHL Splice Site (c.463+1G>C)1
(predisposing)Renal Cell CarcinomaCURATED_BROADERPredisposingCSupports Uncertain Significance2accepted
EID5373

Of 65 VHL families from central Europe, 53 were identified with germline mutations. This splice mutation was found in a German, VHL type 1 patient with retinal angiomas, hemangioblastomas of the centr… (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

civic
VHL C162W (c.486C>G)1
(predisposing)Von Hippel-Lindau DiseaseUNRESOLVEDPredisposingCSupports Predisposition2accepted
EID5355

Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in a German, VHL type 1 patient with retinal angiomas, hemangioblastomas of the cen… (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

civic
VHL C77_N78insL (c.230_231insTCT)1
(predisposing)Von Hippel-Lindau DiseaseUNRESOLVEDPredisposingCSupports Predisposition2accepted
EID5364

Of 65 VHL families from central Europe, 53 were identified with germline mutations. This mutation was found in 2 Croatian, VHL type 1 family members (family VHL 26). Both have hemangioblastomas of th… (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

civic
VHL E70* (c.208G>T)1
(predisposing)Von Hippel-Lindau DiseaseUNRESOLVEDPredisposingCSupports Predisposition2accepted
EID5361

Of 65 VHL families from central Europe, 53 were identified with germline mutations. This nonsense mutation was found in a Filipino, VHL type 1 patient with hemangioblastomas of the central nervous sys… (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

civic
VHL G93S (c.277G>A)1
(predisposing)Von Hippel-Lindau DiseaseUNRESOLVEDPredisposingCSupports Predisposition2submitted
EID5362

Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in 2 German, VHL type 2 family members with pheochromocytomas (family VHL 62).

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

civic
VHL H115R (c.344A>G)1
(predisposing)Von Hippel-Lindau DiseaseUNRESOLVEDPredisposingCSupports Uncertain Significance2accepted
EID5377

Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in a German, VHL type 1 family of 2. Both patients had hemangioblastomas of the cen… (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

civic
VHL H115Y (c.343C>T)1
(predisposing)Von Hippel-Lindau DiseaseUNRESOLVEDPredisposingCSupports Predisposition2accepted
EID5363

Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in a German, VHL type 1 patient with retinal angiomas (family VHL 59).

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

civic
VHL L129fs (c.384delT)1
(predisposing)Von Hippel-Lindau DiseaseUNRESOLVEDPredisposingCSupports Predisposition3accepted
EID5365

Of 65 VHL families from central Europe, 53 were identified with germline mutations. This mutation was found in 2 German, VHL type 1 family members with hemangioblastomas of the central nervous system,… (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

civic
VHL L178Q (c.533T>A)1
(predisposing)Von Hippel-Lindau DiseaseUNRESOLVEDPredisposingCSupports Predisposition2accepted
EID5366

Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in 2 German, VHL type 2 family members with retinal angiomas, hemangioblastomas of … (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

civic
VHL L188V (c.562C>G)1
(predisposing)Von Hippel-Lindau DiseaseUNRESOLVEDPredisposingCSupports Predisposition2rejected
EID5367

Of 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
VHL L89P (c.266T>C)1
(predisposing)Von Hippel-Lindau DiseaseUNRESOLVEDPredisposingCSupports Predisposition2accepted
EID5368

Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in a German, VHL type 1 family of 11. Three patients had retinal angiomas, 7 hand h… (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

civic
VHL N78S (c.233A>G)1
(predisposing)Von Hippel-Lindau DiseaseUNRESOLVEDPredisposingCSupports Uncertain Significance2accepted
EID5376

Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in a German, VHL type 1 family of 6. Each patient had hemangioblastomas of the cent… (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

civic
VHL Null (Large deletion)1
(predisposing)Von Hippel-Lindau DiseaseUNRESOLVEDPredisposingCN/A N/A3submitted
EID10162

Of 65 VHL families from central Europe, 53 were identified with germline mutations using SSCP analysis of PCR products by peripheral blood. Germline rearrangements were identified in 7 families. A 2kb… (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

civic
VHL P81S (c.241C>T)1
(predisposing)Von Hippel-Lindau DiseaseUNRESOLVEDPredisposingCSupports Uncertain Significance2accepted
EID5369

Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in a German, VHL type 1 patient with hemangioblastomas of the central nervous syste… (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

civic
VHL Q132* (c.394C>T)1
(predisposing)Von Hippel-Lindau DiseaseUNRESOLVEDPredisposingCSupports Predisposition2accepted
EID5358

Of 65 VHL families from central Europe, 53 were identified with germline mutations. This nonsense mutation was found in a German, VHL type 1 patient with retinal angiomas, hemangioblastomas of the cen… (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

civic
VHL Q164* (c.490C>T)1
(predisposing)Von Hippel-Lindau DiseaseUNRESOLVEDPredisposingCSupports Predisposition2accepted
EID5359

Of 65 VHL families from central Europe, 53 were identified with germline mutations. This nonsense mutation was found in an Iranian, VHL type 1 patient with retinal angiomas, hemangioblastomas of the c… (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

civic
VHL Q195* (c.583C>T)1
(predisposing)Von Hippel-Lindau DiseaseUNRESOLVEDPredisposingCSupports Predisposition2accepted
EID5360

Of 65 VHL families from central Europe, 53 were identified with germline mutations. The mutation of p.Q195* (c.583C>T) was referred to in the paper by c.796C>T due to a difference in transcript sequen… (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

civic
VHL R113* (c.337C>T)1
(predisposing)Von Hippel-Lindau DiseaseUNRESOLVEDPredisposingCSupports Predisposition3accepted
EID5352

Of 65 VHL families from central Europe, 53 were identified with germline mutations using SSCP analysis of PCR products by peripheral blood. The R113* (c.337C>T) mutation was detected in the patient, r… (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

civic
VHL R161G (c.481C>G)1
(predisposing)Von Hippel-Lindau DiseaseUNRESOLVEDPredisposingCSupports Predisposition2accepted
EID5353

Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in a German, VHL type 2B family. Only one patient was identified with retinal angio… (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

civic
VHL R167Q (c.500G>A)1
(predisposing)Von Hippel-Lindau DiseaseUNRESOLVEDPredisposingCSupports Predisposition3accepted
EID5354

Of 65 VHL families from central Europe, 53 were identified with germline mutations using SSCP analysis of PCR products by peripheral blood. The R167Q (c.500G>A) mutation was detected in the patient, r… (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

civic
VHL Splice Site (c.463+2T>C)1
(predisposing)Von Hippel-Lindau DiseaseUNRESOLVEDPredisposingCSupports Predisposition2accepted
EID5356

Of 65 VHL families from central Europe, 53 were identified with germline mutations. This splice mutation was found in a Croatian, VHL type 1 family of 3. Each individual had retinal angiomas, one had … (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

civic
VHL Splice Site (c.464-1G>A)1
(predisposing)Von Hippel-Lindau DiseaseUNRESOLVEDPredisposingCSupports Predisposition2accepted
EID5357

Of 65 VHL families from central Europe, 53 were identified with germline mutations. This splice mutation was found in a German, VHL type 1 patient with hemangioblastomas of the central nervous system … (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

civic
VHL Splice Site (c.464-2A>G)1
(predisposing)Von Hippel-Lindau DiseaseUNRESOLVEDPredisposingCSupports Uncertain Significance2accepted
EID5851

Of 65 VHL families from central Europe, 53 were identified with germline mutations. This splice mutation was found in a German, VHL type 1 family. Only one affected patient was identified with retinal… (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

civic
VHL Splice Site (c.464-2A>T)1
(predisposing)Von Hippel-Lindau DiseaseUNRESOLVEDPredisposingCSupports Predisposition2accepted
EID5351

Of 65 VHL families from central Europe, 53 were identified with germline mutations. This splice mutation was found in a German, VHL type 1 family. Only one affected patient was identified with hemangi… (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

civic
VHL V74G (c.221T>G)1
(predisposing)Von Hippel-Lindau DiseaseUNRESOLVEDPredisposingCSupports Uncertain Significance2accepted
EID5374

Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in 2 unrelated, German families. The VHL type 1 family of 4 affected individuals ha… (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

civic
VHL Y98H (c.292T>C)1
(predisposing)Von Hippel-Lindau DiseaseUNRESOLVEDPredisposingCSupports Uncertain Significance2accepted
EID5372

Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found 3 unrelated, German families, 2 of which had been previously described (Neumann et … (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

civic