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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.
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    1. ClingenBaseline 22 Oct 2026
      VHL kindreds for germline mutations and calculated the age related tumour risks for different classes of VHL gene mutations.

      PatientID: None

      KindredID: 107

      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 107

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Unknown

      CaseNotHPOs: HP:0002666 (pheochromocytoma)

      CaseNotHPOFreeText: No presence of phaeochromocytoma in family

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N141Mfs*18 (c.421delA)

      CaseProblemVariantFreeText: NM_000551.3:c.421delA automapps to NM_000551.3:c.422delA

      LegacyVariant: FS (c.634delA)

      ClinVarID: N/A

      CAID: CA432421876 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.421delA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: N141fs (c.422del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 cDNAposition:422 CivicName:N141fs(c.422del) ProteinPosition:141 AminoAcidChange:ASNtoMET MutationType:minus_1_frameshift_variant CAID:CA432421876 ClinVarID:N/A Familial DiseaseEntity:asymptomatic inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC1050584/