3 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease
    2
    1. ClingenBaseline 04 Nov 2026
      p.F76del

      PatientID: None (III)

      KindredID: 1

      Case: Sex and Ethnicity unknown; Age >18Y0M

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: Total of 4 family members belonging to Family 1 (see Table 2; or follow KindredID 1)

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: 4 HB at first screening, and same by final screening (5 year follow up).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 16572651

      SupplementalData: N/A

      Variant: p.F76del (c.227_229del)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 223166 https://www.ncbi.nlm.nih.gov/clinvar/variation/223166/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: p.F76del

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:76 CivicName:p.F76del cDNAposition:227 ClinVarID:223166 ClinVarID:Yes Familial MutationType:inframe_deletion inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 02 Nov 2026
      p.F76del

      PatientID: None (II)

      KindredID: 1

      Case: Sex and Ethnicity unknown; Age >18Y0M

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: Total of 4 family members belonging to Family 1 (see Table 2; or follow KindredID 1)

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: 3 HB at first screening, and same by final screening (5 year follow up).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 16572651

      SupplementalData: N/A

      Variant: p.F76del (c.227_229del)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 223166 https://www.ncbi.nlm.nih.gov/clinvar/variation/223166/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: p.F76del

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:76 CivicName:p.F76del ClinVarID:Yes cDNAposition:227 ClinVarID:223166 Familial MutationType:inframe_deletion inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC2822817/
  3. Oct 2026
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease
    1
    1. ClingenBaseline 26 Oct 2026
      1p.F76del>18YAffected3 Hb, KC+ PC

      PatientID: None (I)

      KindredID: 1

      Case: Sex and Ethnicity unknown; Age >18Y0M

      DiseaseAssertion: assumed VHL

      FamilyInfo: Total of 4 family members belonging to Family 1 (see Table 2; or follow KindredID 1)

      CasePresentingHPOs: HP:0010797; HP:0000107; HP:0001737 (hemangioblastoma, renal cyst, pancreatic cysts)

      CaseHPOFreeText: 3 HB, 1 kidney cyst at first screening, as well as now pancreatic cyst at final screening (5 year follow up).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 16572651

      SupplementalData: N/A

      Variant: p.F76del (c.227_229del)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 223166 https://www.ncbi.nlm.nih.gov/clinvar/variation/223166/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: p.F76del

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:hemangioblastoma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts Mutation:Germline AssumedRefSeq:NM_000551.3 MutationType:inframe_deletion CivicName:p.F76del ClinVarID:223166 ClinVarID:Yes cDNAposition:227 Familial ProteinPosition:76 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

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    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC2822817/