2 Matching Annotations
  1. Last 7 days
  2. link.springer.com link.springer.com
    Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe
    1
    1. ClingenBaseline 26 Oct 2026

      GroupID/ KindredID: VHL 30

      Case: Sex unknown, Age unknown, German

      DiseaseAssertion: assumed VHL

      FamilyInfo: One patient with the given mutation is stated to belong to VHL family 30

      CasePresentingHPOs: HP:0009711; HP:0010797; HP:0001737; HP:0001407 (retinal capillary hemangioma, hemangioblastoma, pancreatic cysts, liver cysts)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q132* (c.394C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.Q132* (c.607C>T)

      ClinVarID: 288749 https://www.ncbi.nlm.nih.gov/clinvar/variation/288749

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: allele-specific oligonucleotide (ASO) probes and hybridization conditions confirmed

      MutationType: stop_gained

      CivicName: Q132* (c.394C>T)

      MultipleGeneVariants: N/A

      Ethnicity:German Mutation:Germline DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts DiseaseEntity:hepaticcyst MutationType:stop_gained ProteinPosition:132 cDNAposition:394 CivicName:Q132*(c.394C>T) AminoAcidChange:GLNtoTER ClinVarID:288749 ClinVarID:Yes RefSeq:AF010238.1 InheritancePattern:AutosomalDominant Familial inferred_gene_hgnc:10012 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s004390050206
  3. iovs.arvojournals.org iovs.arvojournals.org
    Retinal Hemangioblastoma in von Hippel-Lindau Disease: A Clinical and Molecular Study
    1
    1. ClingenBaseline 22 Oct 2026
      395A→C Tv Exon 2 132 CAA Q Q132P

      GroupID: 31

      Case: Age unknown, Sex unknown, French

      DiseaseAssertion: VHL

      FamilyInfo: None - one member documented here

      CasePresentingHPOs: N/A

      CaseHPOFreeText: other manifestations are not clearly stated.

      CaseNotHPOs: HP:0009711 (retinal capillary hemangioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: Possibly published in PMID:15300849

      SupplementalData: N/A

      Variant: p.Q132P (c.395A>C)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 496063 https://www.ncbi.nlm.nih.gov/clinvar/variation/496063/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: Q132P (c.395A>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Ethnicity:French Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:395 CivicName:Q132P(c.395A>C) AminoAcidChange:GLNtoPRO ClinVarID:496063 ClinVarID:Yes MutationType:missense_variant;transversion ProteinPosition:132 NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    iovs.arvojournals.org/article.aspx