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  1. Last 7 days
  2. www.liebertpub.com www.liebertpub.com
    VHL Germline Mutations in Argentinian Patients with Clinical Diagnoses or Single Typical Manifestations of Type 1 von Hippel-Lindau Disease
    1
    1. ClingenBaseline 04 Nov 2026
      one nonsense VHL mutation was detected in a young patient with a solitary central nervous system hemangioblastoma without familial history.

      PatientID: 22

      KindredID: 22

      Case: 13Y0M, Sex Unknown, Argentinian

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: No family history

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: Aged 13Y at diagnosis (genetic testing); does not fulfil type 1 VHL clinical diagnosis. Solitary CNS angiomas diagnosed at 13Y (See Table 1 & 2).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: did not develop other manifestations of the disease during a 5- year follow-up.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W88* (c.264G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 936684 https://www.ncbi.nlm.nih.gov/clinvar/variation/936684/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: W88* (c.264G>A)

      MultipleGeneVariants: N/A

      ClinVarID:936684 ClinVarID:Yes Ethnicity:Argentinian DiseaseEntity:hemangioblastoma AgeOfPresentation:hemangioblastoma:13 Mutation:Germline RefSeq:NM_000551.3 CivicName:W88*(c.264G>A) cDNAposition:264 ProteinPosition:88 AminoAcidChange:TRPtoTER MutationType:stop_gained NonFamilial ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    liebertpub.com/doi/10.1089/gtmb.2016.0204
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype-Phenotype Correlation in Patients With Germline Mutations of VHL, RET, SDHB, and SDHD Genes: Thai Experience
    1
    1. ClingenBaseline 02 Nov 2026
      p.Trp88X43M+CHB, RCC, pancreatic cyst, epididymal cyst

      PatientID: 1

      KindredID: 1

      Case: M, 43Y0M, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: Positive family history but no further information

      CasePresentingHPOs: HP:0010797; HP:0001737; HP:0005584; HP:0030424 (hemangioblastoma, pancreatic cyst, renal cell carcinoma, epididymal cyst)

      CaseHPOFreeText: Patient had an age of diagnosis of VHL at 43

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes

      Variant: p.W88* (c.264G>A) OR (c.263G>A) (see evidence statement)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 936684 https://www.ncbi.nlm.nih.gov/clinvar/variation/936684/ OR 182978 https://www.ncbi.nlm.nih.gov/clinvar/variation/182978/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence:N/A

      MutationType: stop_gained

      CivicName: W88*

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts DiseaseEntity:renalcellcarcinoma DiseaseEntity:epididymalcyst Mutation:Germline cDNAposition:264 ProteinPosition:88 MutationType:stop_gained AminoAcidChange:TRPtoTER ClinVarID:936684 ClinVarID:Yes Familial PreviousTesting:RET/SDHB/SDHD AssumedRefSeq:NM_000551.3 ClinVarID:182978 cDNAposition:263 CivicName:W88* inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5404897/