4 Matching Annotations
  1. Last 7 days
  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype–phenotype correlations in von Hippel-Lindau disease
    2
    1. ClingenBaseline 03 Nov 2026

      GroupID: 35

      DiseaseAssertion: assumed VHL

      GroupSize: 10

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: 10 of the 573 patients discussed in this paper were found to have the following mutation belonging to 2 families altogether.

      GroupPresentingHPOs: HP:0006880; HP:0009711; HP:0005584; HP:0002666 (cerebellar hemangioblastoma, retinal capillary hemangioma; renal cell carcinoma; pheochromocytoma)

      GroupHPOFreeText: 8 patients had retinal angiomas diagnosed at a mean age of 27Y, 4 had cerebellar hemangioblastomas diagnosed at a mean age of 31Y, 1 member had RCC diagnosed at 50Y, and one has pheochromocytoma diagnosed at 27Y.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S1.

      Variant: p.R177* (c.529A>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 625258 https://www.ncbi.nlm.nih.gov/clinvar/variation/625258/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R177* (c.529A>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:renaltransitionalcellcarcinoma DiseaseEntity:pheochromocytoma DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:renalcellcarcinoma:50 AgeOfPresentation:pheochromocytoma:27 CivicName:R177*(c.529A>T) cDNAposition:529 ProteinPosition:177 AminoAcidChange:ARGtoTER MutationType:stop_gained ClinVarID:625258 ClinVarID:Yes Mutation:Germline RefSeq:NM_000551.2 ExperimentalAssay InheritancePattern:AutosomalDominant Familial SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 02 Nov 2026

      GroupID: 8

      Case: 37Y0M, Sex Unknown, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: 1 of the 573 patients discussed in this paper were found to have this variant. This mutation was found in 1 VHL family with a single patient.

      CasePresentingHPOs: HP:0005584; HP:0009711; HP:0006880 (renal cell carcinoma; retinal capillary hemangioma; cerebellar hemangioblastoma)

      CaseHPOFreeText: patient had retinal angiomas diagnosed at 28Y, cerebellar hemangioblastomas diagnosed at 22Y, and renal cell carcinoma diagnosed at 37Y.

      CaseNotHPOs: HP:0002666 (pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S1.

      Variant: p.R177* (c.529A>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 625258 https://www.ncbi.nlm.nih.gov/clinvar/variation/625258/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R177* (c.529A>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:retinalcapillaryhemangioma:28 AgeOfPresentation:cerebellarhemangioblastoma:22 AgeOfPresentation:renalcellcarcinoma:37 ProteinPosition:177 CivicName:R177*(c.529A>T) cDNAposition:529 AminoAcidChange:ARGtoTER MutationType:stop_gained ClinVarID:625258 ClinVarID:Yes Mutation:Germline RefSeq:NM_000551.2 SupplementalData ExperimentalAssay NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.20385
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.
    1
    1. ClingenBaseline 03 Nov 2026
      VHL kindreds for germline mutations and calculated the age related tumour risks for different classes of VHL gene mutations.

      PatientID: None

      KindredID: 36

      Case: Age, sex ethnicity unknown

      DiseaseAssertion: unknown; paper focused only on pheochromocytoma

      FamilyInfo: No specific family info was present; although this was recorded as a family germline mutation belonging to Family ID 36

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Unknown

      CaseNotHPOs: HP:0002666 (pheochromocytoma)

      CaseNotHPOFreeText: No presence of phaeochromocytoma in family

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R177* (c.529A>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.R177* (c.742A>T)

      ClinVarID: 625258 https://www.ncbi.nlm.nih.gov/clinvar/variation/625258/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R177* (c.529A>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:asymptomatic Mutation:Germline RefSeq:AF010238.1 cDNAposition:529 CivicName:R177*(c.529A>T) ProteinPosition:177 AminoAcidChange:ARGtoTER MutationType:stop_gained ClinVarID:625258 ClinVarID:Yes Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC1050584/
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma
    1
    1. ClingenBaseline 02 Nov 2026
      PMID: 7977367

      PatientID: N/A

      KindredID: Caki-2 (cell line)

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Renal cell carcinoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0005584 (renal cell carcinoma)

      CaseHPOFreeText: Described as sporadic RCC from cell line Caki-2

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R177* (c.529A>T)

      LegacyVariant: p.R248* (c.742A>T)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625258 https://www.ncbi.nlm.nih.gov/clinvar/variation/625258/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence:N/A

      MutationType: stop_gained

      CivicName: R177* (c.529A>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:renalcellcarcinoma ProteinPosition:177 cDNAposition:529 CivicName:R177*(c.529A>T) MutationType:stop_gained AminoAcidChange:ARGtoTER ClinVarID:625258 ClinVarID:Yes NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/7977367/