3 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease
    1
    1. ClingenBaseline 04 Nov 2026
      20p.C162F>18YAffected2 Hb, Unilat RA, KC, PC, 1 pheo+ 1 RCC, 1 pheo

      PatientID: None

      KindredID: 20

      Case: Sex and Ethnicity unknown; Age >18Y0M

      DiseaseAssertion: assumed VHL

      FamilyInfo: None

      CasePresentingHPOs: HP:0010797; HP:0009711; HP:0000107; HP:0001737; HP:0005584; HP:0002666 (hemangioblastoma, retinal capillary hemangioma, renal cyst, pancreatic cysts, renal cell carcinoma, pheochromocytoma)

      CaseHPOFreeText: At initial screening, patient was found with 2 HB, unilateral retinal capillary hemangioma, 1 renal cyst, 1 pancreatic cyst, and 1 pheochromocytoma. By final screening, the 5 year follow up, there was an additional RCC and pheochromocytoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.C162F (c.485G>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 43604 https://www.ncbi.nlm.nih.gov/clinvar/variation/43604/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: C162F(c.485G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts DiseaseEntity:pheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:485 ProteinPosition:162 AminoAcidChange:CYStoPHE CivicName:C162F(c.485G>T) MutationType:missense_variant;transversion ClinVarID:43604 ClinVarID:Yes NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC2822817/
  3. Oct 2026
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene
    1
    1. ClingenBaseline 28 Oct 2026

      GroupID: 69

      DiseaseAssertion: VHL

      GroupSize: N/A

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: VHL family found to have a germline rearrangement of the VHL gene. The number of family members included in this study is not specified.

      GroupPresentingHPOs: N/A

      GroupHPOFreeText: Patients within this family were found to have a clinical diagnosis of VHL disease, however, the presenting phenotypes were not specified.

      GroupNotHPOs: HP:0002666 (Pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.C162F (c.485G>T)

      LegacyVariant: c.698G>T

      CaseProblemVariantFreeText: N/A

      ClinVarID: 43604, https://www.ncbi.nlm.nih.gov/clinvar/variation/43604/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: C162F (c.485G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline RefSeq:AF010238.1 cDNAposition:485 ProteinPosition:162 AminoAcidChange:CYStoPHE ClinVarID:43604 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:C162F(c.485G>T) Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/9829911/
  5. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by southern blot and direct genomic DNA sequencing
    1
    1. ClingenBaseline 27 Oct 2026

      GroupID/ KindredID: 5

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: Swedish

      GroupAgeRange: N/A

      GroupInfo: 2 patients grouped under family 5 were found in this Swedish VHL family

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

      GroupHPOFreeText: Both (2/2) had renal cell carcinoma, and retinal capillary hemangioma; only 1/2 had hemangioblastoma.

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: neither patient had pheochromocytoma

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.C162F (c.485G>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 43604 https://www.ncbi.nlm.nih.gov/clinvar/variation/43604/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: C162F (c.485G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Swedish DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma Mutation:Germline RefSeq:AF010238.1 CivicName:C162F(c.485G>T) cDNAposition:485 ProteinPosition:162 AminoAcidChange:CYStoPHE MutationType:missense_variant;transversion ClinVarID:43604 ClinVarID:Yes Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/10.1002/humu.1380110111