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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma
    1
    1. ClingenBaseline 07 Nov 2026
      #12PCC(34)10c.340+866C>Ars5366316850.02NANANANANAVUS

      PatientID: 12

      KindredID: 12

      Case: Sex Unknown, 44Y0M, Ethnicity Unknown

      DiseaseAssertion: Pheochromocytoma

      FamilyInfo: N/A - not stated

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: A pheochromocytoma (PCC) diagnosed first at 34Y was found, with follow up of a 10 year duration.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes

      Variant: c.340+866C>A

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA70046858 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.340%2B866C>A

      gnomAD: N/A

      VariantEvidence: Paper described this allele frequent as 0.02%, although not described in the gnomAD database.

      MutationType: splice_site_variant; intron_variant

      CivicName: Splice Site (c.340+866C>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:34 AminoAcidChange:N/A cDNAposition:N/A ProteinPosition:N/A MutationType:splice_site_variant CivicName:SpliceSite(c.340+866C>A) CAID:CA70046858 ClinVarID:N/A NoFamilyInfo SupplementalData MutationType:intron_variant inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC7387210/