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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 22 Oct 2026

      GroupID: 3003

      DiseaseAssertion: assumed VHL

      GroupSize: 27

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Familial VHL stated; 27 family members recorded with this mutation.

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

      GroupHPOFreeText: 11/27 members had retinal angioma (hemangioma), 9 had CNS hemangioblastoma, and 5 had RCC

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: 8956040 (type 1 3003NCI); 9829911

      SupplementalData: N/A

      Variant: p.S168Ifs*5 (c.502_503insTTGTTCGT)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.239fs (c.715insTTGTTCGT)

      ClinVarID: N/A

      CAID: CA2573051075 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573051075

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_2_frameshift_variant

      CivicName: S168fs (c.502_503insTTGTTCGT)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma DiseaseEntity:hemangioblastoma Mutation:Germline RefSeq:AF010238.1 ClinVarID:N/A CAID:CA2573051075 Familial FamilyCohort ProteinPosition:168 cDNAposition:502 AminoAcidChange:SERtoILE MutationType:plus_2_frameshift_variant CivicName:S168fs(c.502_503insTTGTTCGT) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1002/humu.1380050109