2 Matching Annotations
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  2. www.tandfonline.com www.tandfonline.com
    Genotype-phenotype Correlations, and Retinal Function and Structure in von Hippel-Lindau Disease
    2
    1. ClingenBaseline 21 Oct 2026
      c.236G>C, p.R79P

      PatientID: II-1

      KindredID: Family B

      Case: M, 23Y0M, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: Family positive pedigree showing patient’s father with RCC and CNS hemangioblastoma; as well as 2 sisters with CNS/spinal and retinal hemangioblastomas

      CasePresentingHPOs: HP:0010797; HP:0009711 (hemangioblastoma; retinal capillary hemangioblastoma)

      CaseHPOFreeText: underwent surgery for multiple CNS hemangioblastomas at the age of 15, and at the same age multiple peripheral retinal hemangioblastomas were found in his right eye, which were treated successfully with laser photocoagulation and cryotherapy. At the age of 20, he developed a large peripheral retinal hemangioblastoma in his left eye, which was treated successfully with cryotherapy.

      CaseNotHPOs: HP:0005584; HP:0002666 (renal cell carcinoma, pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R79P (c.236G>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351749311 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.236G%3EC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: R79P (c.236G>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:hemangioblastoma:15 AgeOfPresentation:retinalcapillaryhemangioma:15 AgeOfPresentation:retinalcapillaryhemangioma:20 Mutation:Germline RefSeq:NM_000551.3 cDNAposition:236 AminoAcidChange:ARGtoPRO MutationType:missense_variant;transversion CAID:CA351749311 ClinVarID:N/A CivicName:R79P(c.236G>C) Familial FamilyPedigree DiseaseEntity:VHL ProteinPosition:79 ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      c.236G>C, p.R79P

      PatientID: II-1

      KindredID: Family B

      Case: M, 23Y0M, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: Family positive pedigree showing patient’s father with RCC and CNS hemangioblastoma; as well as 2 sisters with CNS/spinal and retinal hemangioblastomas

      CasePresentingHPOs: HP:0010797; HP:0009711 (hemangioblastoma; retinal capillary hemangioblastoma)

      CaseHPOFreeText: underwent surgery for multiple CNS hemangioblastomas at the age of 15, and at the same age multiple peripheral retinal hemangioblastomas were found in his right eye, which were treated successfully with laser photocoagulation and cryotherapy. At the age of 20, he developed a large peripheral retinal hemangioblastoma in his left eye, which was treated successfully with cryotherapy.

      CaseNotHPOs: HP:0005584; HP:0002666 (renal cell carcinoma, pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R79P (c.236G>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351749311 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.236G%3EC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: R79P (c.236G>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:hemangioblastoma:15 AgeOfPresentation:retinalcapillaryhemangioma:15 AgeOfPresentation:retinalcapillaryhemangioma:20 Mutation:Germline RefSeq:NM_000551.3 cDNAposition:236 AminoAcidChange:ARGtoPRO MutationType:missense_variant;transversion CAID:CA351749311 ClinVarID:N/A CivicName:R79P(c.236G>C) Familial FamilyPedigree DiseaseEntity:VHL ProteinPosition:79 ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    tandfonline.com/doi/full/10.3109/13816810.2014.886265