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  2. journals.lww.com journals.lww.com
    Endolymphatic Sac Tumors in von Hippel-Lindau Disease:... : Otology & Neurotology
    1
    1. ClingenBaseline 09 Nov 2026
      A missense germline mutation in exon 1of the VHL gene was identified in the patient (p. Asp92Gly). The patient's family members (parents and 2 daughters aged 10 and 5 yr) then underwent genetic testing. The mutation was found in the youngest daughter. Full evaluation of the positive carrier did not reveal any tumor localization.

      PatientID: None (daughter)

      KindredID: 1

      Case: F, 5Y0M, ethnicity unknown

      DiseaseAssertion: asymptomatic

      FamilyInfo: The patient's family members (grandparents, mother (33Y0M; Case 1) and sister (10Y0M) underwent genetic testing. Sister and grandparents were not positive, however mother was found positive with the same mutation.

      CasePresentingHPOs: None

      CaseHPOFreeText: Full evaluation did not reveal any tumor localization.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.D92G (c.275A>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA351750765 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.275A%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: D92G (c.275A>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:asymptomatic Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:D92G(c.275A>G) ProteinPosition:92 cDNAposition:275 AminoAcidChange:ASPtoGLY MutationType:missense_variant;transition CAID:CA351750765 ClinVarID:N/A InheritancePattern:AutosomalDominant Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    journals.lww.com/otology-neurotology/fulltext/2010/06000/endolymphatic_sac_tumors_in_von_hippel_lindau.20.aspx
  3. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Characterization of endolymphatic sac tumors and von Hippel–Lindau disease in the International Endolymphatic Sac Tumor Registry
    1
    1. ClingenBaseline 04 Nov 2026
      1 France c.275A>G p.Asp92Gly

      GroupID: 8

      Case: Sex unknown, Age unknown, French

      DiseaseAssertion: VHL

      FamilyInfo: Unknown. 1 registrant was found with this variant; no family info was mentioned

      CasePresentingHPOs: HP:0030393 (Endolymphatic sac tumor)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.D92G (c.275A>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA351750765 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.275A%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: D92G (c.275A>G)

      MultipleGeneVariants: N/A

      CAID:CA351750765 ClinVarID:N/A MutationType:missense_variant;transition AminoAcidChange:ASPtoGLY ProteinPosition:92 CivicName:D92G(c.275A>G) cDNAposition:275 DiseaseEntity:endolymphaticsactumor Ethnicity:French DiseaseEntity:VHL Mutation:Germline RefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/full/10.1002/hed.24067