2 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Solitary juxtapapillary capillary retinal angioma and von Hippel-Lindau disease
    1
    1. ClingenBaseline 01 Nov 2026

      PatientID: 8

      KindredID: 3

      Case: Sex Unknown, 9Y3M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Positive VHL family history.

      CasePresentingHPOs: HP:0009711, HP:0009715, HP:0010797, HP:0002666, HP:0005584 (retinal capillary hemangioma, papillary cystadenoma of the epididymis, hemangioblastoma, pheochromocytoma, renal cell carcinoma)

      CaseHPOFreeText: At first presentation (age 5Y6M) the patient had a visual acuity of 20/125. The retinal angioma showed an endophytic growth pattern and was located in the temporal disc margin. Before age 5, the patient had experienced epidydimal cystadenoma and hemangioblastoma of the central nervous system. Either at first presentation or on follow-up the patient presented with renal cell carcinoma, pheochromocytoma, and hemangioblastoma of the CNS.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.H115R (c.344A>G)

      LegacyVariant: p.H115R (c.557A>G)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 664415 https://www.ncbi.nlm.nih.gov/clinvar/variation/664415/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: H115R (c.344A>G)

      MultipleGeneVariants: N/A

      MutationType:missense_variant;transition InheritancePattern:AutosomalDominant DiseaseEntity:VHL Familial DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:papillarycystadenomaoftheepididymis DiseaseEntity:hemangioblastoma DiseaseEntity:pheochromocytoma DiseaseEntity:renalcellcarcinoma AgeOfPresentation:RetinalCapillaryHemangioma:5 Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:344 ProteinPosition:115 AminoAcidChange:HIStoARG ClinVarID:664415 ClinVarID:Yes CivicName:H115R(c.344A>G) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/17392848/
  3. Oct 2026
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Family history of von Hippel–Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients
    1
    1. ClingenBaseline 29 Oct 2026
      probands

      PatientID: 4

      KindredID: 4

      Case: Sex Unknown, 45Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: Patient had no family history of VHL disease.

      CohortInfo: 16 Chinese patients clinically diagnosed with VHL disease.

      CasePresentingHPOs: HP:0010797; HP:0005584; HP:0001732 (hemangioblastoma; renal cell carcinoma; abnormality of the pancreas

      CaseHPOFreeText: The patient presented with a hemangioblastoma at age 34, as well as renal cell carcinoma and abnormality of the pancreas at age 44.

      CaseNotHPOs: HP:0009711, HP:0002666, HP:0030393 (retinal capillary hemangioma, pheochromocytoma, endolymphatic sac tumor)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.H115R (c.344A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA70049376, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.344A%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: H115R (c.344A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:NM_000551.3 Ethnicity:Chinese NoFamilyInfo DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:abnormalityofthepancreas AgeOfPresentation:hemangioblastoma:34 AgeOfPresentation:renalcellcarcinoma:44 AgeOfPresentation:abnormalityofthepancreas:44 ClinVarID:N/A CAID:CA70049376 cDNAPosition:344 ProteinPosition:115 AminoAcidChange:HIStoARG inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/22357542/