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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease
    1
    1. ClingenBaseline 01 Nov 2026
      two cases

      PatientID: P1

      KindredID: 1

      Case: F, 27Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: The patient’s father, age 45, presented with right ccRCC and pancreatic cysts. The patient’s uncle, age 38, presented with unilateral ccRCC. Both the patient’s father and uncle were found to carry the mutation the patient carried.

      CasePresentingHPOs: HP:0009726; HP:0001737 (Renal neoplasm, pancreatic cysts)

      CaseHPOFreeText: The patient presented with two right renal masses and several pancreatic cysts at 22Y.

      CaseNotHPOs: HP:0010797; HP:0002666 (Hemangioblastoma, pheochromocytoma)

      CaseNotHPOFreeText: Full VHL phenotyping with brain and spine MRI, abdominal CT, biochemical examination for pheochromocytoma, and ophthalmologic assessments did not reveal any additional VHL manifestations.

      CasePreviousTesting: SDHB, SDHC, SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: (c.-77_-32del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: The mutation was a deletion in the VHL 5’ UTR, including the promoter.

      ClinVarID: 433541, http://www.ncbi.nlm.nih.gov/clinvar/variation/433541

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: 5_prime_UTR_variant

      CivicName: c.-77_-32del

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:renalneoplasm DiseaseEntity:pancreaticcysts AgeOfPresentation:renalneoplasm:22 AgeOfPresentation:pancreaticcysts:22 Mutation:Germline RefSeq:NM_000551.3 cDNAposition:-77_-32 ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:Yes ClinVarID:433541 MutationType:5_prime_UTR_variant CivicName:c.-77_-32del PreviousTesting:SDHB,SDHC,SDHD Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/30006056/