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    VHL Germline Mutations in Argentinian Patients with Clinical Diagnoses or Single Typical Manifestations of Type 1 von Hippel-Lindau Disease
    2
    1. ClingenBaseline 30 Oct 2026
      nonsense mutations (6/16)

      PatientID: 9

      KindredID: 9

      Case: 25Y0M, Sex Unknown, Argentinian

      DiseaseAssertion: VHL

      FamilyInfo: No family history

      CasePresentingHPOs: HP:0010797; HP:0005584; HP:0001737; HP:0000107 (hemangioblastoma; renal cell carcinoma; pancreatic cysts; renal cyst)

      CaseHPOFreeText: Aged 25Y at diagnosis (genetic testing); fulfils type 1 VHL clinical diagnosis. CNS angiomas diagnosed at 22, ccRCC at 22Y, renal cysts and pancreatic cysts at 22Y (See Table 1 & 2).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      Ethnicity:Argentinian DiseaseEntity:VHL AgeOfPresentation:hemangioblastoma:22 AgeOfPresentation:clearcellrenalcellcarcinoma:22 AgeOfPresentation:renalcyst:22 AgeOfPresentation:pancreaticcysts:22 Mutation:Germline RefSeq:NM_000551.3 CivicName:R161*(c.481C>T) cDNAposition:481 ProteinPosition:161 AminoAcidChange:ARGtoTER MutationType:stop_gained ClinVarID:2217 ClinVarID:Yes NonFamilial DiseaseEntity:hemangioblastoma DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 29 Oct 2026
      missense mutations (1/16)

      PatientID: 6

      KindredID: 6

      Case: 29Y0M, Sex Unknown, Argentinian

      DiseaseAssertion: VHL

      FamilyInfo: Positive family history

      CasePresentingHPOs: HP:0010797; HP:0009711; HP:0001737; HP:0000107 (hemangioblastoma; retinal capillary hemangioma; pancreatic cysts; renal cysts)

      CaseHPOFreeText: Aged 22Y at diagnosis (genetic testing); fulfils type 1 VHL clinical diagnosis. CNS and retinal hemangioblastoma was diagnosed at 22, pancreatic cysts and renal cysts were diagnosed at 29Y (See Table 1 & 2).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: absence of pheochromocytoma/paraganglioma (pheo/pgl) after 14 years of follow-up.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.C162W (c.486C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223227 https://www.ncbi.nlm.nih.gov/clinvar/variation/223227/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: C162W (c.486C>G)

      MultipleGeneVariants: N/A

      Ethnicity:Argentinian DiseaseEntity:VHL Familial ClinVarID:Yes ClinVarID:223227 MutationType:missense_variant;transversion CivicName:C162W(c.486C>G) cDNAposition:486 ProteinPosition:162 AminoAcidChange:CYStoTRP DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pancreaticcysts DiseaseEntity:renalcyst AgeOfPresentation:pancreaticcysts:29 AgeOfPresentation:renalcyst:29 AgeOfPresentation:hemangioblastoma:22 AgeOfPresentation:retinalcapillaryhemangioma:22 Mutation:Germline RefSeq:NM_000551.3 ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    liebertpub.com/doi/10.1089/gtmb.2016.0204