9 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan
    1
    1. ClingenBaseline 31 Oct 2026
      Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected.

      GroupID/ KindredID: 2693NCI, 2956NCI, 20BMS, 2YO, 27BMS, 75CA, 48CA, 144CA

      DiseaseAssertion: VHL

      GroupSize: N/A

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: This germline familial VHL mutation was taken fromvarious families from multiple databases: including: the National Cancer Institute database, the Bristol Myers Squibb database,Department of Uroglogy, Yokohama database, and the Cambridge, Department of Pathology; with an unknown number of members belonging to each. Table 3 lists all ID and mutations associated with individuals possessing renal carcinoma, without phechromocytoma.

      GroupPresentingHPOs: HP:0005548 (renal cell carcinoma)

      GroupHPOFreeText: Described as VHL families with RCC, without pheochromocytoma. Other phenotypes are likely, however not detailed in this publication

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: 7728151; 9829911

      SupplementalData: N/A

      Variant: p.F76del (c.226_228delTTC)

      LegacyVariant: p.delF76 (c.439delTTC)

      CaseProblemVariantFreeText: NM_000551.3:c.226_228delTTC automaps to updated NM_000551.3:c.227_229delTCT

      ClinVarID: N/A

      CAID: CA357012 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.227_229delTCT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: F76del (c.227_229delTCT)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:renalcellcarcinoma cDNAposition:227 CivicName:F76del(c.227_229delTCT) ProteinPosition:76 MutationType:inframe_deletion cDNAposition:229 CAID:CA357012 ClinVarID:N/A Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/8956040/
  3. Oct 2026
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Clinical and mutation analysis of four Chinese families with von Hippel-Lindau disease
    2
    1. ClingenBaseline 28 Oct 2026
      PMID: 23143947

      PatientID: DIII7

      KindredID: D

      Case: F, 16Y0M, Chinese

      DiseaseAssertion: pancreatic cysts

      FamilyInfo: A 3-generation family is given with 3 confirmed members with this mutation. 2 other members had VHL-presenations however had not been tested for the gene.

      CasePresentingHPOs: HP:0001737 (pancreatic cysts)

      CaseHPOFreeText: initially diagnosed by genetic analysis and further verified radiologically, to be found with pancreatic cysts at 16Y.

      CaseNotHPOs: HP:0010797; HP:0002666; HP:0009711; HP:0005584 (hemangioblastoma, pheochromocytoma, retinal capillary hemangioma, renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.F76del (c.226_228delTTC)

      LegacyVariant: p.F76del (c.439delTCT)

      CaseProblemVariantFreeText: NM_000551.3:c.226_228delTTC automaps to NM_000551.3:c.227_229delTCT

      ClinVarID: N/A

      CAID: CA357012 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.226_228delTTC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: F76del (c.227_2289delTCT)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:AF010238.1 DiseaseEntity:pancreaticcysts AgeOfPresentation:pancreaticcysts:16 CAID:CA357012 ClinVarID:N/A MutationType:inframe_deletion CivicName:F76del(c.227_229delTCT) cDNAposition:227 ProteinPosition:76 MutationType:inframe_insertion cDNAposition:229 Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 22 Oct 2026
      PMID: 23143947

      PatientID: DII2

      KindredID: D

      Case: M, 37Y0M (deceased), Chinese

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: A 3-generation family is given with 3 confirmed members with this mutation. 2 other members had VHL-presenations however had not been tested for the gene.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: died of multiple central nervous system hemangioblastoma at the age of 37 without operation.

      CaseNotHPOs: HP:0002666; HP:0009711; HP:0001737; HP:0005584 (pheochromocytoma, retinal capillary hemangioma, pancreatic cysts, renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.F76del (c.226_228delTTC) [assumed]

      LegacyVariant: p.F76del (c.439delTCT)

      CaseProblemVariantFreeText: NM_000551.3:c.226_228delTTC automaps to NM_000551.3:c.227_229delTCT

      ClinVarID: N/A

      CAID: CA357012 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.226_228delTTC

      gnomAD: N/A

      VariantEvidence: No genetic testing was done prior to death, however family history and presentation leads to this assumption

      MutationType: inframe_deletion

      CivicName: F76del (c.227_229delTCT)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:AF010238.1 AgeOfPresentation:hemangioblastoma:37 DiseaseEntity:hemangioblastoma MutationType:inframe_deletion CivicName:F76del(c.227_229delTCT) CivicName:F76del(c.227_229del) cDNAposition:229 ProteinPosition:76 Familial FamilyPedigree CAID:CA357012 ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/23143947/
  5. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genetic analysis of von Hippel-Lindau disease
    1
    1. ClingenBaseline 26 Oct 2026

      PatientID: N/A

      KindredID: 2034

      Case: Age unknown, Sex unknown, Ethnicity unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: Paper states familial VHL; germline mutation

      CasePresentingHPOs: HP:0010797; HP:0009711; HP:0005584 (hemangioblastoma; retinal capillary hemangioma; renal cell carcinoma)

      CaseHPOFreeText: Patient had CNS HB, RA and a Grawitz tumor (RCC)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 32179488

      SupplementalData: Yes (Specifically Supp. Table S2)

      Variant: p.F76del (c.227_229delTCT)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA357012 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.227_229delTCT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: F76del (c.227_229delTCT)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.2 DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma ProteinPosition:76 cDNAposition:227 CivicName:F76del(c.227_229delTCT) MutationType:inframe_deletion Familial ExperimentalAssay SupplementalData CAID:CA357012 ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.21219
  6. www-sciencedirect-com.uhn.idm.oclc.org www-sciencedirect-com.uhn.idm.oclc.org
    A deletion mutation of the VHL gene associated with a patient with sporadic von Hippel-Lindau disease
    1
    1. ClingenBaseline 26 Oct 2026
      2. Materials and methods2.1. PatientThe 32-year-old male patient was admitted to Xiangya Hospital in 2006 and presented with progressive back and neck pain, and numbness and weakness of both legs which had continued for 1 month followed by fecal and urinary retention for 5 days. The MRI (1.5 Tesla) of the brain and entire spinal cord showed multiple lesions in the cerebellum, brain stem, and spinal cord, which were obviously enhanced and highly suggestive of hemangioblastomas (Fig. 1a–e). Subsequent evaluation, by MRI, of the abdomen revealed a solid kidney tumor (Fig. 1f). He underwent surgical resection for hemangioblastomas of T10 and T12 of the spinal cord, which appeared bright red at surgery. The pathological examination of the tissues showed many small blood vessels, most of which were a capillary plexus. Vascular endothelial cells were flat and distributed within a large number of stromal cells. Some of the vascular endothelial cells formed solid masses and cords. Between the capillary plexus, various forms of stromal cells were found, including nest-like or sheet arrangements with hyperchromatic nuclei, rich cytoplasm, rich lipid vacuoles and rare or no mitoses. Some foam cells and adipose-like cells were also found. Immunohistochemistry of the biopsied tissues from the lesions in the spinal cord were negative on immunostaining (–) for glial fibrillary acidic protein (GFAP), CD68, cytokinin (CK)-pan and epithelial membrane antigen (EMA), but stained positive (+) for factor 8 related antigen (F8RAg). Vascular endothelial cells were F8RAg(+) but stromal cells were F8RAg(–). Vascular endothelial cells and stromal cells were all immunonegative for GFAP, EMA, CK-pan, and CD68 (Fig. 1g, h). The patients’ symptoms resolved after surgery. At 5-year follow-up his condition did not recur or deteriorate, but active surveillance was continued.12Download : Download high-res image (1MB)Download : Download full-size imageFig. 1. Main clinical manifestations of von Hippel-Lindau (VHL) disease. (a) Sagittal T1-weighted MRI of the thoracic spinal cord showing two brightly enhancing nodular lesions with clear boundaries at T10 and T12 (arrows). (b) Sagittal T1-weighted MRI of the cervical spinal cord showing two brightly enhancing nodular lesions with clear boundaries at C5 and C6 (arrows). (c) Sagittal T1-weighted MRI of the cervical spinal cord showing a brightly enhancing nodular lesion with a clear boundary at C2 (arrow). (d) Sagittal T1-weighted MRI of the cranial–cervical region showing three brightly enhancing round lesions with clear boundaries at the posterior of the medulla oblongata, superior spinal cord and basilar part of the pons (arrows). (e) Axial T1-weighted MRI of the brain showing two brightly enhancing nodular lesions with clear boundaries at the posterior of the medulla oblongata and the right cerebellar hemisphere (arrows). (f) Sagittal T1-weighted MRI of the kidney showing the small (1.2 cm × 0.6 cm) enhancing nodular lesion (arrow). (g) Histopathological examination of the lesions at T10 and T12 in the spinal cord of the patient with VHL (hematoxylin and eosin stain, ×400). (h) Immunohistochemistry of the biopsied tissue from the lesions at T10 and T12 in the spinal cord of the patient with VHL (factor 8 related antigen stain, ×400).After genetic counseling, all family members of the patient (his parents, sister, son, sister’s son, brother, and brother’s son) were recruited into this study. His 66-year-old father and 63-year-old mother were both in good health without clinical symptoms of VHL. They did not undergo a whole-body examination, but all other family members underwent clinical examination, including ophthalmoscopy, MRI of the CNS, and ultrasonography of the abdomen, to exclude the disease. Informed consent was obtained from all individuals before their participation in the study.

      PatientID: 1

      KindredID: 1

      Case: M, 39Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: No family history. All 7 of his other family members (his parents, sister, son, sister’s son, brother, and brother’s son) were sequenced and no mutation were found. Additionally, all were healthy members. Suggestive of de novo due to no abnormal changes in the VHL gene of either parent.

      CasePresentingHPOs: HP:0010797; HP:0009713; HP:0006880; HP:0009726 (hemangioblastoma, spinal hemangioblastoma, cerebellar hemangioblastoma, renal neoplasm)

      CaseHPOFreeText: At 32Y this patient presented with progressive back and neck pain and numbness. Patient developed multiple CNS hemangioblastomas (multiple lesions in the cerebellum, brain stem, and spinal cord). Subsequent evaluation of the abdomen revealed a solid kidney tumor (visceral tumor).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.F76del (c.227_229delTCT)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA357012 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.227_229delTCT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: F76del (c.227_229delTCT)

      MultipleGeneVariants: N/A

      deNovoConfirmed InheritancePattern:DeNovoAssertion DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:renalneoplasm AgeOfPresentation:hemangioblastoma:32 AgeOfPresentation:spinalhemangioblastoma:32 AgeOfPresentation:renalneoplasm:32 AgeOfPresentation:cerebellarhemangioblastoma:32 Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:F76del(c.227_229delTCT) cDNAposition:227 ProteinPosition:76 MutationType:inframe_deletion CAID:CA357012 ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    www-sciencedirect-com.uhn.idm.oclc.org/science/article/pii/S096758681200567X
  7. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.
    2
    1. ClingenBaseline 23 Oct 2026
      VHL kindreds for germline mutations and calculated the age related tumour risks for different classes of VHL gene mutations.

      PatientID: None

      KindredID: 144

      Case: Age, sex ethnicity unknown

      DiseaseAssertion: unknown; paper focused only on pheochromocytoma

      FamilyInfo: No specific family info was present; although this was recorded as a family germline mutation belonging to Family ID 144

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Unknown

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 32179488; 17024664

      SupplementalData: N/A

      Variant: p.F76del (c.227_229delTCT)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.F76del (c.440delTCT)

      ClinVarID: N/A

      CAID: CA357012 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.227_229delTCT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: F76del (c.227_229delTCT)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline RefSeq:AF010238.1 cDNAposition:227 CivicName:F76del(c.227_229delTCT) ProteinPosition:76 MutationType:inframe_deletion Familial DiseaseEntity:asymptomatic CAID:CA357012 ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      VHL kindreds for germline mutations and calculated the age related tumour risks for different classes of VHL gene mutations.

      PatientID: None

      KindredID: 134

      Case: Age, sex ethnicity unknown

      DiseaseAssertion: unknown; paper focused only on pheochromocytoma

      FamilyInfo: No specific family info was present; although this was recorded as a family germline mutation belonging to Family ID 134

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Unknown

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 32179488, 17024664

      SupplementalData: N/A

      Variant: p.F76del (c.227_229delTCT)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.F76del (c.440delTCT)

      ClinVarID: N/A

      CAID: CA357012 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.227_229delTCT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: F76del (c.227_229delTTC)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline RefSeq:AF010238.1 CivicName:F76del(c.227_229delTCT) cDNAposition:227 ProteinPosition:76 MutationType:inframe_deletion CAID:CA357012 ClinVarID:N/A DiseaseEntity:asymptomatic Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC1050584/
  8. erc.bioscientifica.com erc.bioscientifica.com
    Systematic comparison of sporadic and syndromic pancreatic islet cell tumors
    1
    1. ClingenBaseline 23 Oct 2026
      c.440_442delTCTp.F76CfsX83

      GroupID: 3A

      Case: Sex, Age, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: None. The patient with the given mutation in this study was a VHL patient with pancreatic ICTs.

      CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumor)

      CaseHPOFreeText: Patient has islet cell tumors (ICTs), or listed as pancreatic endocrine tumor.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.F76del (c.227_229del)

      LegacyVariant: c.440_442delTCT (p.F76Cfs*83)

      CaseProblemVariantFreeText: p. is likely incorrect in this case. Paper gave as p.F76CfsX83 and c.440_442delTCT. Unable to see how p.F76CfsX83 could be made (this is not a frameshift mutation) - p. is likely incorrect.

      ClinVarID: N/A

      CAID: CA357012 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.227_229del

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: F76del (c.227_229delTCT)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor RefSeq:NM_000551.2 NoFamilyInfo Mutation:Germline CAID:CA357012 ClinVarID:N/A cDNAposition:227 ProteinPosition:76 MutationType:inframe_deletion CivicName:F76del(c.227_229delTCT) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    erc.bioscientifica.com/view/journals/erc/17/4/875.xml
  9. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma
    1
    1. ClingenBaseline 21 Oct 2026
      PMID: 7977367

      KindredID: 17

      DiseaseAssertion: VHL

      GroupSize: Unknown

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: This is a family belonging to prefigure No. 17. They are described as ‘VHL-affected’.

      GroupPresentingHPOs: HP:0005584 (renal cell carcinoma)

      GroupHPOFreeText: RCC-affected; other manifestations are possible but not clear.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.76delF (c.227_229delTTC)

      LegacyVariant: p.147delF (c.437_439del3)

      CaseProblemVariantFreeText: c.224_226 automaps to NM_000551.3:c.227_229delTCT (updated; verified)

      ClinVarID: N/A

      CAID: CA357012 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.227_229del

      gnomAD: N/A

      VariantEvidence:N/A

      MutationType: inframe_deletion

      CivicName: F76del (c.227_229delTCT)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma RefSeq:AF010238.1 Mutation:Germline cDNAposition:227 cDNAposition:229 CivicName:F76del(c.227_229delTCT) ProteinPosition:76 MutationType:inframe_deletion Familial CAID:CA357012 ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/7977367/