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    Novel and recurrent germline mutations in the VHL gene in 5 Arab patients with Von Hippel-Lindau disease
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    1. ClingenBaseline 08 Nov 2026
      Table 1

      PatientID: N/A

      KindredID: 6

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: adrenal pheochromocytoma

      FamilyInfo: Transmission of the variant could not be determined since family history is not available. Patient’s variant reported as germline.

      CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

      CaseHPOFreeText: Patient had Unilateral, Benign, Adrenal PH (see table 1)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 9663592

      SupplementalData:  N/A

      Variant: p.L63P (c.188T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2227, https://www.ncbi.nlm.nih.gov/clinvar/variation/2227/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: L63P (c.188T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:adrenalpheochromocytoma MutationType:missense_variant;transition ClinVarID:Yes ClinVarID:2227 CivicName:L63P(c.188T>C) PreviouslyPublished:9663592 AminoAcidChange:LEUtoPRO NoFamilyInfo cDNAPosition:188 ProteinPosition:63 Mutation:Germline AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    sciencedirect.com/science/article/abs/pii/S2210776220301460