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    Genotype-phenotype correlations in Chinese von Hippel–Lindau disease patients
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    1. ClingenBaseline 02 Nov 2026

      PatientID: 41

      KindredID: 14

      Case: F, 44Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0001737; HP:0001732; HP:0005584 (Pancreatic cysts, Abnormality of the pancreas, Renal cell carcinoma)

      CaseHPOFreeText: The proband presented with renal cell carcinoma and multiple pancreatic cysts/ tumors at age 44.

      CaseNotHPOs: HP:0010797; HP:0009711; HP:0002666 (Hemangioblastoma, Retinal capillary hemangioma, Pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: This patient was also published in a later paper by Wang et al., 2018 (PMID: 29330336).

      SupplementalData: Patient and family genotype-phenotype information is listed in Supplementary Table 1.

      Variant: p.S80Ifs*79 (c.239del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA913189245; https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.239del

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: S80fs (c.239del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:pancreaticcysts DiseaseEntity:abnormalityofthepancreas DiseaseEntity:renalcellcarcinoma AgeOfPresentation:pancreaticcysts:44 AgeOfPresentation:abnormalityofthepancreas:44 AgeOfPresentation:renalcellcarcinoma:44 SupplementalData MutationType:minus_1_frameshift_variant CivicName:S80fs(c.239del) CAID:CA913189245 ClinVarID:N/A cDNAposition:239 ProteinPosition:80 AminoAcidChange:SERtoILE MutationType:deletion inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5503545/