2 Matching Annotations
  1. Last 7 days
  2. iovs.arvojournals.org iovs.arvojournals.org
    Retinal Hemangioblastoma in von Hippel-Lindau Disease: A Clinical and Molecular Study
    1
    1. ClingenBaseline 24 Oct 2026
      136G→T Ts Exon 1 46 GAG E E46X

      GroupID: 1

      Case: Age unknown, Sex unknown, French

      DiseaseAssertion: VHL

      FamilyInfo: None - one member documented here

      CasePresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: Possibly published in PMID:15300849

      SupplementalData: N/A

      Variant: p.E46* (c.136G>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA351748085 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.136G%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: E46* (c.136G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant NoFamilyInfo DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:136 ProteinPosition:46 MutationType:stop_gained CivicName:E46*(c.136G>T) AminoAcidChange:GLUtoTER CAID:CA351748085 ClinVarID:N/A Ethnicity:French inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    iovs.arvojournals.org/article.aspx
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype-phenotype correlations in Chinese von Hippel–Lindau disease patients
    1
    1. ClingenBaseline 24 Oct 2026

      PatientID: 208

      KindredID: 79

      Case: M, 49Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The proband's mother and sister had a CNS hemangioblastoma at ages 40 and 50, respectively. His nephew presented with a CNS hemangioblastoma (age 15), a retinal angioma (age 27), and renal cell carcinoma (age 25). His daughter had a retinal angioma at age 14, and a CNS hemangioblastoma at age 24. No genetic testing information was available for family members.

      CasePresentingHPOs: HP:0010797; HP:0001737; HP:0001732; HP:0002666; HP:0005584 (Hemangioblastoma, Pancreatic cysts, Abnormality of the pancreas, Pheochromocytoma, Renal cell carcinoma)

      CaseHPOFreeText: The proband presented with a CNS hemangioblastoma at age 29. At age 46, they presented with renal cell carcinoma and a pheochromocytoma. At age 49 they presented with multiple pancreatic cysts/tumors.

      CaseNotHPOs: HP:0009711; (Retinal Capillary Hemangioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: Kindred #79 was published in Wang et al., 2014 (PMID: 24581539). This cohort was also published in a later paper by Wang et al., 2018 (PMID: 29330336).

      SupplementalData: Patient and family genotype-phenotype information is listed in Supplementary Table 1.

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R167Q (c.500G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:abnormalityofthepancreas DiseaseEntity:pancreaticcysts DiseaseEntity:pheochromocytoma DiseaseEntity:renalcellcarcinoma AgeOfPresentation:hemangioblastoma:29 AgeOfPresentation:abnormalityofthepancreas:49 AgeOfPresentation:pancreaticcysts:49 AgeOfPresentation:pheochromocytoma:46 AgeOfPresentation:renalcellcarcinoma:46 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:500 ProteinPosition:167 AminoAcidChange:ARGtoGLN ClinVarID:2216 ClinVarID:Yes MutationType:missense_variant;transition CivicName:R167Q(c.500G>A) Familial SupplementalData PreviouslyPublished:29330336 PreviouslyPublished:24581539 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5503545/