2 Matching Annotations
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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Functioning Mediastinal Paraganglioma Associated with a Germline Mutation of von Hippel-Lindau Gene
    2
    1. ClingenBaseline 21 Oct 2026
      her mother

      PatientID: None

      KindredID: 1

      Case: F, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Asymptomatic

      FamilyInfo: The heterozygous missense variant NM_000551.3:c.311G>T was identified on two of her daughters; one was 21Y and one was 17Y. The 21Y daughter had hypertension and a paraganglioma, and the 17Y daughter had a retinal hemangioblastoma.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: The patient refused a complete staging.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G104V(c.311G>T)

      LegacyVariant: N/A

      ClinVarID: 223183, http://www.ncbi.nlm.nih.gov/clinvar/variation/223183

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: G104V(c.311G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:asymptomatic Mutation:Germline RefSeq:NM_000551.3 cDNAposition:311 ProteinPosition:104 AminoAcidChange:GLYtoVAL ClinVarID:Yes ClinVarID:223183 MutationType:missense_variant;transversion CivicName:G104V(c.311G>T) Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      her mother

      PatientID: None

      KindredID: 1

      Case: F, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Asymptomatic

      FamilyInfo: The heterozygous missense variant NM_000551.3:c.311G>T was identified on two of her daughters; one was 21Y and one was 17Y. The 21Y daughter had hypertension and a paraganglioma, and the 17Y daughter had a retinal hemangioblastoma.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: The patient refused a complete staging.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G104V(c.311G>T)

      LegacyVariant: N/A

      ClinVarID: 223183, http://www.ncbi.nlm.nih.gov/clinvar/variation/223183

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: G104V(c.311G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:asymptomatic Mutation:Germline RefSeq:NM_000551.3 cDNAposition:311 ProteinPosition:104 AminoAcidChange:GLYtoVAL ClinVarID:Yes ClinVarID:223183 MutationType:missense_variant;transversion CivicName:G104V(c.311G>T) Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6025296/