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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma
    1
    1. ClingenBaseline 30 Oct 2026
      511MaleVHL VHL p.Val170Gly

      PatientID: 5

      KindredID: 5

      Case: M, 11Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: No details on family information.

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: Patient had clinical diagnosis of von Hippel Lindau syndrome and presented with pheochromocytoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: SBHB, SDHC, SDHD, SDHAF2, VHL, EPAS1 (exons 9 and 12), RET (exons 10–11 and 13–16), TMEM127 and MAX

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V170G (c.509T>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351756196, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA351756196

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: V170G (c.509T>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transversion AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:pheochromocytoma CivicName:V170G(c.509T>G) cDNAPosition:509 ProteinPosition:170 AminoAcidChange:VALtoGLY ClinVarID:N/A CAID:CA351756196 NoFamilyHistory PreviousTesting:SBHB/SDHC/SDHD/SDHAF2/EPAS1/RET/TMEM127/MAX inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4521794/