2 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes
    1
    1. ClingenBaseline 13 Nov 2026

      PatientID: 2

      KindredID: 6

      Case: 39Y0M, Sex and Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Recorded as a familial tumor; no other family info present

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: Unilateral pheochromocytoma reported with an age at diagnosis of 39 years of age.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, SDHB/SDHC/SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S111C (c.331A>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 565557 https://www.ncbi.nlm.nih.gov/clinvar/variation/565557/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: S111C (c.331A>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:39 Mutation:Germline AssumedRefSeq:NM_000551.3 MutationType:missense_variant;transversion CivicName:S111C(c.331A>T) ProteinPosition:111 cDNAposition:331 AminoAcidChange:SERtoCYS ClinVarID:565557 ClinVarID:Yes PreviousTesting:RET PreviousTesting:SDHB PreviousTesting:SDHD PreviousTesting:SDHC Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC1735500/
  3. iovs.arvojournals.org iovs.arvojournals.org
    Retinal Hemangioblastoma in von Hippel-Lindau Disease: A Clinical and Molecular Study
    1
    1. ClingenBaseline 12 Nov 2026
      331A→T Tv Exon 1 111 AGC S S111C

      GroupID: 21

      DiseaseAssertion: VHL

      GroupSize: 3

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: French

      GroupAgeRange: N/A

      GroupInfo: 3 patients are listed with this mutation; any relation is unknown.

      GroupPresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      GroupHPOFreeText: all 3 members are said to have retinal HBs. Other manifestations are not clearly stated.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S111C (c.331A>T)

      CaseProblemVariantFreeText: N.A

      LegacyVariant: N/A

      ClinVarID: 565557 https://www.ncbi.nlm.nih.gov/clinvar/variation/565557/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: S111C (c.331A>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant NoFamilyInfo Ethnicity:French DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma AssumedRefSeq:NM_000551.3 Mutation:Germline ClinVarID:565557 ClinVarID:Yes ProteinPosition:111 cDNAposition:331 CivicName:S111C(c.331A>T) AminoAcidChange:SERtoCYS MutationType:missense_variant;transversion inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    iovs.arvojournals.org/article.aspx