2 Matching Annotations
  1. Oct 2026
  2. 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
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Identification and In Silico Analysis of Novel von Hippel-Lindau (VHL) Gene Variants from a Large Population
    1
    1. ClingenBaseline 24 Oct 2026

      PatientID: 194

      KindredID: 194

      Case: Sex Unknown, 46Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797; HP:0001732; HP:0002666; HP:0000107 (Hemangioblastoma, Abnormality of the pancreas, Pheochromocytoma, Renal cyst)

      CaseHPOFreeText: CNS hemangioblastoma, pancreatic cyst or tumor, pheochromocytoma and renal cystic lesion.

      CaseNotHPOs: HP:0009711; HP:0006770 (Retinal capillary hemangioma, Clear cell renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table S1, S2 and S3

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

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

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: deletion; minus_1_frameshift_variant

      CivicName: P59fs (c.176delC)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcyst DiseaseEntity:abnormalityofthepancreas DiseaseEntity:pheochromocytoma Mutation:Germline RefSeq:NM_000551.3 cDNAposition:314 ProteinPosition:107 AminoAcidChange:ARGtoPRO ClinVarID:N/A CAID:CA432536374 MutationType:minus_1_frameshift_variant MutationType:deletion CivicName:P59fs(c.176delC) NoFamilyInfo SupplementalData ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/21463266/