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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 23 Oct 2026

      GroupID: 3624

      DiseaseAssertion: assumed VHL

      GroupSize: 3

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Familial VHL stated; 3 family members recorded with this mutation.

      GroupPresentingHPOs: HP:0009711; HP:0010797; HP:0005584 (retinal capillary hemangioma, hemangioblastoma, renal cell carcinoma)

      GroupHPOFreeText: 2/3 members had retinal angioma (hemangioma), 2/3 had CNS hemangioblastoma, and 1 had RCC

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: 8956040 (type 1 3624NCI)

      SupplementalData: N/A

      Variant: p.R176Gfs*26 (c.526delA)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.R247fs (c.739delA)

      ClinVarID: 625257 https://www.ncbi.nlm.nih.gov/clinvar/variation/625257/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: R176fs (c.526del)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma Mutation:Germline RefSeq:AF010238.1 InheritancePattern:AutosomalDominant Familial FamilyCohort ClinVarID:Yes ClinVarID:625257 cDNAposition:526 CivicName:R176fs(c.526del) ProteinPosition:176 AminoAcidChange:ARGtoGLY MutationType:minus_1_frameshift_variant inferred_gene_hgnc:5542 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1002/humu.1380050109