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    Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma
    1
    1. ClingenBaseline 23 Oct 2026
      X214T one case (female)

      PatientID: None

      KindredID: 4

      Case: F, 32Y0M, Ethnicity Unknown

      DiseaseAssertion: Assumed VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666; HP:0001737 (Pheochromocytoma, pancreatic cyst)

      CaseHPOFreeText: The patient presented with pheochromocytoma and pancreatic cysts. The age of diagnosis was not specified.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.*214Trpt*14(c.642A>G)

      LegacyVariant: N/A

      ClinVarID: 625269, http://www.ncbi.nlm.nih.gov/clinvar/variation/625269

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_loss

      CivicName: *214Trpt*14(c.642A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:pancreaticcyst Mutation:Germline RefSeq:N/A AssumedRefSeq:NM_000551.3 cDNAposition:642 ProteinPosition:214 AminoAcidChange:N/A ClinVarID:Yes ClinVarID:625269 MutationType:stop_loss CivicName:*214Trpt*14(c.642A>G) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC2958253/