3 Matching Annotations
  1. Last 7 days
  2. academic.oup.com academic.oup.com
    Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma
    1
    1. ClingenBaseline 02 Nov 2026

      PatientID: None

      KindredID: 51

      Case: M, 41Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: A total of 190 patients recruited by the COMETE network over 15 years were included in the study.

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: The patient had one benign pheochromocytoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, SDHB, SDHC, SDHD

      PreviouslyPublished: N/A

      SupplementalData: Patient information was extracted from Table 1 of Supplementary.

      Variant: p.Y175* (c.525C>G)

      CaseProblemVariantFreeText: The protein change was written as Thr175 in the Supplemental but the nucleotide change corresponds to Tyr175.

      LegacyVariant: N/A

      ClinVarID: 182974 https://www.ncbi.nlm.nih.gov/clinvar/variation/182974/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Y175* (c.525C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:41 DiseaseEntity:VHL NoFamilyInfo PreviousTesting:RET/SDHB/SDHD/SDHC SupplementalData ClinVarID:182974 ClinVarID:Yes MutationType:stop_gained cDNAposition:525 ProteinPosition:175 AssumedRefSeq:NM_000551.3 AminoAcidChange:TYRtoTER CivicName:Y175*(c.525C>G) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    academic.oup.com/hmg/article/20/20/3974/696619
  3. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Characterization of endolymphatic sac tumors and von Hippel–Lindau disease in the International Endolymphatic Sac Tumor Registry
    1
    1. ClingenBaseline 31 Oct 2026
      1 France c.525C>G p.Tyr175*

      GroupID: 32

      Case: Sex, Age, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: Unknown. One registrant from France has this mutation of c.525C>G

      CasePresentingHPOs: HP:0030393 (Endolymphatic sac tumor)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y175* (c.525C>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 182974 https://www.ncbi.nlm.nih.gov/clinvar/variation/182974/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Y175* (c.525C>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:endolymphaticsactumor Mutation:Germline cDNAposition:525 ProteinPosition:175 RefSeq:NM_000551.3 AminoAcidChange:TYRtoTER ClinVarID:182974 CAID:CA020466 MutationType:stop_gained CivicName:Y175*(c.525C>G) ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/full/10.1002/hed.24067
  4. Oct 2026
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical and molecular characteristics of East Asian patients with von Hippel–Lindau syndrome
    1
    1. ClingenBaseline 23 Oct 2026
      nonsense mutation

      PatientID: 96

      KindredID: None

      Case: Age and Sex unknown, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: None

      CasePresentingHPOs: HP:0010797; HP:0001737; HP:0000107 (hemangioblastoma, pancreatic cysts, renal cyst)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0005584; HP:0009711; HP:0002666; HP:0030405; HP:0030393 (Renal cell carcinoma, Retinal capillary haemangioblastoma, Pheochromocytoma, Pancreatic endocrine tumour, Endolymphatic sac tumour)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes; See Suppl 1 (Supporting table)

      Variant: p.Y175* (c.525C>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 182974 https://www.ncbi.nlm.nih.gov/clinvar/variation/182974/

      CAID: CA020466 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.525C%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Y175* (c.525C>G)

      MultipleGeneVariants: N/A

      Ethnicity:Chinese DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts DiseaseEntity:renalcyst Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:Y175*(c.525C>G) cDNAposition:525 ProteinPosition:175 AminoAcidChange:TYRtoTER CAID:CA020466 ClinVarID:182974 MutationType:stop_gained SupplementalData ClinVarID:Yes NoFamilyInfo ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4986176/