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  2. erc.bioscientifica.com erc.bioscientifica.com
    Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways
    1
    1. ClingenBaseline 09 Nov 2026
      VHL_6Frozenc.491A>Gp.Gln164ArgF31AdrenalPCCB

      PatientID: VHL_6 (tumor ID)

      KindredID: 6

      Case: F, 31Y0M, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: The patient had a benign adrenal pheochromocytoma at 31Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q164R (c.491A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2238, https://www.ncbi.nlm.nih.gov/clinvar/variation/2238/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: Q164R (c.491A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:31 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:491 ProteinPosition:164 AminoAcidChange:GLNtoARG ClinVarID:2238 ClinVarID:Yes MutationType:missense_variant;transition CivicName:Q164R(c.491A>G) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    erc.bioscientifica.com/view/journals/erc/20/4/477.xml
  3. nyaspubs.onlinelibrary.wiley.com nyaspubs.onlinelibrary.wiley.com
    Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients
    1
    1. ClingenBaseline 07 Nov 2026
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      PatientID: 8

      KindredID: 8

      Case: Sex Unknown, 31Y0M, Italian

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: Present - potential pathogenic relevance due to a family history, although no further information present

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: adrenal bilateral pheochromocytoma with an age of diagnosis of 31Y

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G93C (c.277G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223175 https://www.ncbi.nlm.nih.gov/clinvar/variation/223175/

      CAID: N/A

      gnomAD: 0.000004476 https://gnomad.broadinstitute.org/variant/3-10183808-G-T

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: G93C (c.277G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Italian DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:31 Familial ProteinPosition:93 cDNAposition:277 CivicName:G93C(c.277G>T) MutationType:missense_variant;transversion AminoAcidChange:GLYtoCYS Mutation:Germline AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    nyaspubs.onlinelibrary.wiley.com/doi/abs/10.1196/annals.1353.016