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  2. journals-scholarsportal-info.myaccess.library.utoronto.ca journals-scholarsportal-info.myaccess.library.utoronto.ca
    Genotype–phenotype analysis of von Hippel–Lindau syndrome in fifteen Indian families
    1
    1. ClingenBaseline 07 Nov 2026
      S4 17 20 F - - - ? - ? - c.464 T[G (463 ? 43 A[G) p.V155G a–b interface

      PatientID: 17

      KindredID: S4

      Case: F, 20Y0M, Indian

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0009711; HP:0002666 (Retinal capillary hemangioma, Pheochromocytoma)

      CaseHPOFreeText: Retinal angioma and pheochromocytoma.

      CaseNotHPOs: HP:0030393; HP:0010797; HP:0001737; HP:0005584 (Endolymphatic sac tumor, Hemangioblastoma, Pancreatic cysts, Renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V155G (c.464T>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA16621938, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.464T%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant; missense_variant;transversion

      CivicName: V155G (c.464T>G) and c.463+43A>G

      MultipleGeneVariants: Germline, VHL, c.463+43A>G

      InheritancePattern:AutosomalDominant Ethnicity:Indian DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:464 ProteinPosition:155 AminoAcidChange:VALtoGLY ClinVarID:N/A CAID:CA16621938 MutationType:splice_site_variant MutationType:missense_variant;transversion CivicName:V155G(c.464T>G)andc.463+43A>G NoFamilyInfo MultipleVHLVariants inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    journals-scholarsportal-info.myaccess.library.utoronto.ca/pdf/13899600/v14i0004/585_gaovhsifif.xml