2 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype-phenotype correlations in Chinese von Hippel–Lindau disease patients
    1
    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/
  3. Oct 2026
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Family history of von Hippel–Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients
    1
    1. ClingenBaseline 29 Oct 2026
      probands

      PatientID: 4

      KindredID: 4

      Case: Sex Unknown, 45Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: Patient had no family history of VHL disease.

      CohortInfo: 16 Chinese patients clinically diagnosed with VHL disease.

      CasePresentingHPOs: HP:0010797; HP:0005584; HP:0001732 (hemangioblastoma; renal cell carcinoma; abnormality of the pancreas

      CaseHPOFreeText: The patient presented with a hemangioblastoma at age 34, as well as renal cell carcinoma and abnormality of the pancreas at age 44.

      CaseNotHPOs: HP:0009711, HP:0002666, HP:0030393 (retinal capillary hemangioma, pheochromocytoma, endolymphatic sac tumor)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.H115R (c.344A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA70049376, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.344A%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: H115R (c.344A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:NM_000551.3 Ethnicity:Chinese NoFamilyInfo DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:abnormalityofthepancreas AgeOfPresentation:hemangioblastoma:34 AgeOfPresentation:renalcellcarcinoma:44 AgeOfPresentation:abnormalityofthepancreas:44 ClinVarID:N/A CAID:CA70049376 cDNAPosition:344 ProteinPosition:115 AminoAcidChange:HIStoARG inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/22357542/