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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: 3575

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

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

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N150Ifs*9 (c.448delA)

      CaseProblemVariantFreeText: NM_000551.3:c.448delA adjusts to up to date to NM_000551.4:c.449delA

      LegacyVariant: p.221fs (c.661delA)

      ClinVarID: 195093 https://www.ncbi.nlm.nih.gov/clinvar/variation/195093/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: N150fs (c.448delA)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma Mutation:Germline RefSeq:AF010238.1 ProteinPosition:150 cDNAposition:448 CivicName:N150fs(c.448delA) MutationType:minus_1_frameshift_variant ClinVarID:195093 ClinVarID:Yes Familial FamilyCohort InheritancePattern:AutosomalDominant AminoAcidChange:ASNtoILE inferred_gene_hgnc:12601 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1002/humu.1380050109