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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 25 Oct 2026
      PMID: 29813026

      PatientID: 3

      KindredID: 3

      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: p.E94K (c.280G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 135955 https://www.ncbi.nlm.nih.gov/clinvar/variation/135955/

      CAID: N/A

      gnomAD: 0.000004460 https://gnomad.broadinstitute.org/variant/3-10183811-G-A?dataset=gnomad_r2_1

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: E94K (c.280G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:E94K(c.280G>A) MutationType:missense_variant;transition AminoAcidChange:GLUtoLYS ProteinPosition:94 cDNAposition:280 NoFamilyInfo ExperimentalAssay ClinVarID:135955 ClinVarID:Yes inferred_gene_hgnc:17084 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/29813026/