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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germ‐line Mutation Analysis in Patients with von Hippel‐Lindau Disease in Japan: An Extended Study of 77 Families
    1
    1. ClingenBaseline 08 Nov 2026

      PatientID: None

      KindredID: 1

      Case: Sex Unknown, Age Unknown, Japanese

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0009711; HP:0010797 (Retinal capillary hemangioma, Hemangioblastoma)

      CaseHPOFreeText: CNS hemangioblastoma and retinal angioma.

      CaseNotHPOs: HP:0001732; HP:0005584 (Abnormality of the pancreas, Renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 8634692

      SupplementalData: N/A

      Variant: p.N78H (c.232A>C)

      LegacyVariant: c.445A>C

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625225, https://www.ncbi.nlm.nih.gov/clinvar/variation/625225/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: N78H (c.232A>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Japanese DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma Mutation:Germline RefSeq:AF010238.1 cDNAposition:232 ProteinPosition:78 AminoAcidChange:ASNtoCYS ClinVarID:625225 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:N78H(c.232A>C) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10761708/