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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Long-term prognosis of haemangioblastoma of the CNS: impact of von Hippel-Lindau disease
    1
    1. ClingenBaseline 30 Oct 2026
      In the 14 VHL patients

      PatientID: Case 8

      KindredID: 8

      Case: Gender Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006880 (Cerebellar hemangioblastoma)

      CaseHPOFreeText: No individual phenotypic information was given.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G93A(c.278G>C)

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA351750780, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA351750780

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: G93A(c.278G>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:hemangioblastoma Mutation:Germline RefSeq:N/A AssumedRefSeq:NM_000551.3 cDNAposition:278 ProteinPosition:93 AminoAcidChange:GLYtoALA CAID:CA351750780 CivicName:G93A(c.278G>C) NoFamilyInfo ClinVarID:N/A MutationType:missense_variant;transversion inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10592114/