3 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germ‐line Mutation Analysis in Patients with von Hippel‐Lindau Disease in Japan: An Extended Study of 77 Families
    1
    1. ClingenBaseline 24 Oct 2026

      GroupID: 46

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: Japanese

      GroupAgeRange: N/A

      GroupInfo: 2 individuals from a single family (ID 46).

      GroupPresentingHPOs: HP:0001732; HP:0005584 (Abnormality of the pancreas, Renal cell carcinoma)

      GroupHPOFreeText: Renal cell carcinoma (2/2) and pancreatic tumor or cyst (unspecified) (1/2).

      GroupNotHPOs: HP:0009711; HP:0010797 (Retinal capillary hemangioma, Hemangioblastoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: 8634692

      SupplementalData: N/A

      Variant: p.L118P (c.353T>C)

      LegacyVariant: c.566T>C

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428807, https://www.ncbi.nlm.nih.gov/clinvar/variation/428807/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: L118P (c.353T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Japanese DiseaseEntity:VHL DiseaseEntity:abnormalityofthepancreas DiseaseEntity:renalcellcarcinoma Mutation:Germline RefSeq:AF010238.1 cDNAposition:353 ProteinPosition:118 AminoAcidChange:LEUtoPRO ClinVarID:428807 ClinVarID:Yes MutationType:missense_variant;transition CivicName:L118P(c.353T>C) Familial FamilyCohort inferred_gene_hgnc:9069 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/10761708/
  3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC7318087/
  4. erc.bioscientifica.com erc.bioscientifica.com
    Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumours
    1
    1. ClingenBaseline 23 Oct 2026
      28a6Mc.353T>G2Missensep.Leu118Arg13P, mu, AP, H Asynchronous

      PatientID: 28

      KindredID: 6

      Case: M, 13Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: 2 members of this family, IDs #28 (13Y, M) and #29 (19Y, F) presented with the same variant and pheochromocytoma. Patient #28 also presented with head and neck as well as abdominal paraganglioma.

      CohortInfo: Thirty-one subjects were included in this study consisting of 16 SDHB mutation carriers and 15 subjects with VHL disease followed-up between 1975 and 2008. Subjects were included in the study if they had complete imaging from the base of the skull to the pelvis and measurements of urinary or plasma catecholamines. The case-notes and hospital databases were examined for the required data, which included: age at first symptom/diagnosis, family history, disease penetrance, site and size of tumor, symptoms, secretion of catecholamines, multifocal disease, metastatic disease, treatment and disease outcome.

      CasePresentingHPOs: HP:0009711; HP:0002668 (Pheochromocytoma, Parganglioma)

      CaseHPOFreeText: Head and neck paraganglioma, abdominal paraganglioma and multifocal pheochromocytoma. 13Y at VHL diagnosis.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L118R (c.353T>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428802, https://www.ncbi.nlm.nih.gov/clinvar/variation/428802/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: L118R (c.353T>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:paraganglioma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:353 ProteinPosition:118 AminoAcidChange:LEUtoARG ClinVarID:428802 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:L118R(c.353T>G) Familial inferred_gene_hgnc:9069 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    erc.bioscientifica.com/view/journals/erc/16/2/515.xml