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

      GroupID: 33

      DiseaseAssertion: assumed VHL

      GroupSize: 3

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: 3 of the 573 patients discussed in this paper were found to have the following mutation belonging to 2 families altogether. 

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

      GroupHPOFreeText: 1 patient had retinal angiomas diagnosed at age 18Y, 3 had cerebellar hemangioblastomas diagnosed at mean age of 18Y, and 1 had RCC diagnosed at 50Y

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S1.

      Variant: p.R176Gfs*26 (c.526delA) 

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625257 https://www.ncbi.nlm.nih.gov/clinvar/variation/625257/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: R176fs (c.526del) 

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:retinalcapillaryhemangioma:18 AgeOfPresentation:renalcellcarcinoma:50 cDNAposition:526 ProteinPosition:176 ClinVarID:625257 ClinVarID:Yes MutationType:minus_1_frameshift_variant CivicName:R176fs(c.526del) AminoAcidChange:ARGtoGLY ExperimentalAssay SupplementalData RefSeq:NM_000551.2 InheritancePattern:AutosomalDominant Familial 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. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Clinical and genetic characterization of pheochromocytoma in von Hippel-Lindau families: comparison with sporadic pheochromocytoma gives insight into natural history of pheochromocytoma
    1
    1. ClingenBaseline 30 Oct 2026

      GroupID: 4339

      DiseaseAssertion: VHL

      GroupSize: 4

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Each group represents a family.

      GroupPresentingHPOs: HP:0010797; HP:0002666; HP:0005584; HP:0009711 (Hemangioblastoma, Pheochromocytoma, Renal cell carcinoma, Retinal capillary hemangioma)

      GroupHPOFreeText: 1/4 members with pheochromocytoma, 1/4 members with CNS hemangioblastoma, 4/4 with renal carcinoma, 1/4 with retinal angioma and 1/4 with cysts. Diagnosed as a VHL Type 2B family.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R176Gfs*26 (c.526del)

      LegacyVariant: c.739delA

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625257, https://www.ncbi.nlm.nih.gov/clinvar/variation/625257/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Variant reported as 739 del A (Frameshift), assumed to be reported in legacy nomenclature (AF010238.1) and mapped to c.526del, p.Arg176Glyfs*26 (NM_000551.3).

      MutationType: deletion; minus_1_frameshift_variant

      CivicName: R176Gfs*26 (c.526del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:pheochromocytoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:526 ProteinPosition:176 AminoAcidChange:ARGtoGLY ClinVarID:625257 ClinVarID:Yes MutationType:deletion MutationType:minus_1_frameshift_variant CivicName:R176Gfs*26(c.526del) Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10458336/
  4. Oct 2026
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Retinal Vascular Proliferation as an Ocular Manifestation of von Hippel-Lindau Disease
    1
    1. ClingenBaseline 29 Oct 2026
      7/34/MClinical, geneticSingle-nucleotide deletion at nucleotide 739, protein truncating mutation++−+−

      PatientID: 7

      KindredID: 7

      Case: F, 34Y0M, Caucasian

      DiseaseAssertion: VHL

      FamilyInfo: Positive VHL family history.

      CasePresentingHPOs: HP:0001732, HP:0030393, HP:0007850, HP:0012210 (abnormality of the pancreas, retinal vascular proliferation, abnormal renal morphology)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0002011 (Morphological central nervous system abnormality

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData:N/A

      Variant: p.R176G (c.526delA)

      LegacyVariant: p.R176G (c.739delA)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625257 https://www.ncbi.nlm.nih.gov/clinvar/variation/625257/

      CAID: CA16602180 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.526delA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: R176G (c.526delA)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Familial DiseaseEntity:abnormalityofthepancreas DiseaseEntity:abnormalrenalmorphology DiseaseEntity:Retinalvascularproliferation Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:526 ProteinPosition:176 AminoAcidChange:ARGtoGLY ClinVarID:625257 CAID:CA16602180 Ethnicity:Caucasian CivicName:R176G(c.526delA) MutationType:minus_1_frameshift_variant ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC2443701/
  6. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype–phenotype correlations in von Hippel-Lindau disease
    1
    1. ClingenBaseline 25 Oct 2026

      GroupID: 5

      DiseaseAssertion: assumed VHL

      GroupSize: 5

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: 5 of the 573 patients discussed in this paper were found to the mutation belonging to 1 family. This mutation (c.176delC) was found in 1 VHL family with 5 patients.

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

      GroupHPOFreeText: 3 patients had retinal angiomas diagnosed at a mean age of 22Y, 4 patients had cerebellar hemangioblastomas diagnosed at a mean age of 24Y, and 2 patients had RCCs with a mean age of diagnosis of 60Y.

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S1.

      Variant: p.P59Rfs*8 (c.176delC)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA432536374 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.176delC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: P59fs (c.176delC)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:retinalcapillaryhemangioma ProteinPosition:59 cDNAposition:176 MutationType:minus_1_frameshift_variant CivicName:P59fs(c.176delC) AminoAcidChange:PROtoARG CAID:CA432536374 ClinVarID:N/A ExperimentalAssay RefSeq:NM_000551.2 Mutation:Germline InheritancePattern:AutosomalDominant Familial SupplementalData FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.20385