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    VHL mutation analysis in patients with isolated central nervous system haemangioblastoma
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    1. ClingenBaseline 08 Nov 2026
      ii) renal cyst 17

      PatientID: N/A

      KindredID: 3

      Case: Sex Unknown, 17Y0M, Ethnicity Unknown

      DiseaseAssertion: Renal Cyst

      FamilyInfo: This patient (a relative of patient B3) had two first degree relatives who were positive for the VHL mutation. The first family member (patient B3) had a cerebellar hemangioblastoma at 40 and a pheochromocytoma at 41 years old and the second family member had a hemangioblastoma and retinal angioma at 18 years old

      CasePresentingHPOs: HP:0000107 (renal cyst)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167Q (c.500G>A)

      LegacyVariant: p.R167Q (c.713G>A)

      ClinVarID: 2216 (https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/)

      CAID: N/A

      gnomad: 0.000003977 (https://gnomad.broadinstitute.org/variant/3-10191507-G-A)

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R167Q (c.500G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:renalcyst AgeOfPresentation:renalcyst:17 Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:500 ProteinPosition:167 AminoAcidChange:ARGtoGLN ClinVarID:2216 ClinVarID:Yes CAID:CA020454 MutationType:missense_variant;transition CivicName:R167Q(c.500G>A) Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    academic.oup.com/brain/article/130/3/836/278946