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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Exploring the role of defective fibronectin matrix assembly in the VHL-associated CNS hemangioblastoma
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    1. ClingenBaseline 24 Oct 2026
      PMID: 29813026

      PatientID: 2

      KindredID: 2

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: N/A - Not specified

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: VHL syndromic HB

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Null (Complete deletion)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: A VHL subject in our patient population had a full length deletion (FLD) in the germline VHL gene, but a VHL gene tumor second hit mutation (c.360-362 del AGA) causing an amino acid change of p.RD120-121S detected in the HB tumor

      MutationType: deletion

      CivicName: Deletion AND R120_121S (c.360_362delAGA)

      MultipleGeneVariants: Somatic, VHL, c.360_362delAGA, p.Arg120_121Ser

      InheritancePattern:AutosomalDominant DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551.3 MutationType:deletion CivicName:DELETION ClinVarID:N/A UnregisteredVariant NoFamilyInfo ExperimentalAssay MultipleVHLVariants CivicName:DeletionANDR120_121S(c.360_362delAGA) inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/29813026/