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  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Germline mutations in the von Hippel–Lindau disease tumor suppressor gene: Correlations with phenotype
    1
    1. ClingenBaseline 01 Nov 2026

      GroupID: 3616

      DiseaseAssertion: assumed VHL

      GroupSize: 4

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Familial VHL stated; 4 family members recorded with this mutation.

      GroupPresentingHPOs: HP:0009711; HP:0005584 (retinal capillary hemangioma, renal cell carcinoma)

      GroupHPOFreeText: 2/4 members had retinal angiomas (hemangiomas), and 2/4 had RCC

      GroupNotHPOs: HP:0010797; HP:0002666 (hemangioblastoma, pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V155Cfs*4 (c.462delA)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.225fs (c.675delA)

      ClinVarID: 625251 https://www.ncbi.nlm.nih.gov/clinvar/variation/625251/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: V155fs (c.462delA)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma Mutation:Germline RefSeq:AF010238.1 InheritancePattern:AutosomalDominant Familial FamilyCohort ClinVarID:625251 ClinVarID:Yes cDNAposition:462 ProteinPosition:155 AminoAcidChange:VALtoCYS MutationType:minus_1_frameshift_variant CivicName:V155fs(c.462delA) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1002/humu.1380050109