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  2. academic.oup.com academic.oup.com
    VHL mutation analysis in patients with isolated central nervous system haemangioblastoma
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    1. ClingenBaseline 31 Oct 2026
      1 FDR mutation positive        No features VHL disease 63 y

      PatientID: N/A

      KindredID: 7

      Case: Sex Unknown, 63Y0M, Ethnicity Unknown

      DiseaseAssertion: asymptomatic

      FamilyInfo: A first degree relative tested positive for the same VHL mutation (patient B7), they had a cerebellar hemangioblastoma at 30 years old

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.D179N (c.535G>A)

      LegacyVariant: p.D179N (c.748G>A)

      ClinVarID: 419861 (https://www.ncbi.nlm.nih.gov/clinvar/variation/419861/?new_evidence=false)

      CAID: N/A

      gnomAD: 0.000003977 https://gnomad.broadinstitute.org/variant/3-10191542-G-A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: p.D179N(c.535G>A)

      MultipleGeneVariants: N/A

      DiseaseEntity:asymptomatic InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 cDNAposition:535 ProteinPosition:179 AminoAcidChange:ASPtoASN ClinVarID:419861 ClinVarID:Yes MutationType:missense_variant;transition CivicName:D179N(c.535G>A) Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    academic.oup.com/brain/article/130/3/836/278946