2 Matching Annotations
  1. Last 7 days
  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients
    2
    1. ClingenBaseline 23 Oct 2026
      35 (45%) had missense variants,

      PatientID: 49

      KindredID: 49

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0100634 (Neuroendocrine neoplasm)

      CaseHPOFreeText: Recorded as a pheochromocytoma/paraganglioma

      CaseNotHPOs: HP:0010797; HP:0006770; HP:0030405; HP:0009711; HP:0030421 (hemangioblastoma; clear cell renal cell carcinoma; pancreatic neuroendocrine neoplasm, retinal capillary hemangioma, Epididymal neoplasm)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes; see table S1 for VHL subject genetic and manifestation information.

      Variant: p.P154L (c.461C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 649525 https://www.ncbi.nlm.nih.gov/clinvar/variation/649525/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: P154L (c.461C>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:neuroendocrineneoplasm SupplementalData CivicName:P154L(c.461C>T) cDNAposition:461 ProteinPosition:154 AminoAcidChange:PROtoLEU MutationType:missense_variant;transition Mutation:Germline RefSeq:NM_000551.3 ClinVarID:649525 ClinVarID:Yes NoFamilyInfo inferred_gene_hgnc:291 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 23 Oct 2026
      missense variants

      PatientID: 31

      KindredID: 31

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797; HP:0009711; HP:0100634 (hemangioblastoma, retinal capillary hemangioma, neuroendocrine neoplasm)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0006770; HP:0030405; HP:0030421 (clear cell renal cell carcinoma, pancreatic neuroendocrine neoplasm, Epididymal neoplasm)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 29437867 (Family 1 - see here for more info)

      SupplementalData: Yes; see table S1 for VHL subject genetic and manifestation information.

      Variant: p.S65A (c.193T>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223160 https://www.ncbi.nlm.nih.gov/clinvar/variation/223160

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: S65A (c.193T>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma DiseaseEntity:neuroendocrineneoplasm CivicName:S65A(c.193T>G) cDNAposition:193 ProteinPosition:65 AminoAcidChange:SERtoALA MutationType:missense_variant;transversion Mutation:Germline RefSeq:NM_000551.3 NoFamilyInfo ClinVarID:Yes ClinVarID:223160 SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/full/10.1111/cge.13613