2 Matching Annotations
  1. Last 7 days
  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genetic analysis of von Hippel-Lindau disease
    1
    1. ClingenBaseline 26 Oct 2026

      PatientID: None

      KindredID: 14482

      Case: Age unknown, Sex unknown, Belgian

      DiseaseAssertion: VHL

      FamilyInfo: Paper states: Belgian family; Germline mutation

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes

      Variant: p.R167Q (c.500G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2216 https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/

      CAID: N/A

      gnomAD: 0.000003977 https://gnomad.broadinstitute.org/variant/3-10191507-G-A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R167Q (c.500G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.2 DiseaseEntity:VHL Ethnicity:Belgian CivicName:R167Q(c.500G>A) cDNAposition:500 ProteinPosition:167 AminoAcidChange:ARGtoGLN MutationType:missense_variant;transition ClinVarID:2216 ClinVarID:Yes SupplementalData Familial ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.21219
  3. link.springer.com link.springer.com
    Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene
    1
    1. ClingenBaseline 26 Oct 2026
      In four families, partial deletions of one or more exons were detected by Southern blot analysis

      GroupID/ KindredID: Family D

      DiseaseAssertion: VHL (clinically diagnosed in, at minimum, the proband)

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: Belgian

      GroupAgeRange: 46-? (mean 46Y)

      GroupInfo: 2 family members are grouped with this deletion

      GroupPresentingHPOs: HP:0010797; HP:0009711; HP:0001737 (hemangioblastoma, retinal capillary hemangioma, pancreatic cysts)

      GroupHPOFreeText: both (2) patients were found with hemangioblastoma, 1 with retinal capillary hemangioma, and 1 with pancreatic cysts. Unclear specific patient-phenotype grouping

      GroupNotHPOs: HP:0005584; HP:0002666 (renal cell carcinoma, pheochromocytoma)

      GroupNotHPOFreeText: No patients were found to have pheochromocytoma or RCC

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Deletion of exon 1

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Southern blot analysis with EcoRI and hybridization with the g7 probe generated an aberrant restriction fragment (Fig. 3). This aberrant restriction fragment was recognized by probes representing exons 2 and 3. However, hybridization with the exon 1 probe resulted in a normal banding pattern, indicating a deletion encompassing exon 1.

      MutationType: exon_loss_variant

      CivicName: exon 1 deletion

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Belgian DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pancreaticcysts Mutation:Germline AssumedRefSeq:NM_000551.3 UnregisteredVariant ClinVarID:N/A CivicName:Exon1Deletion MutationType:exon_loss_variant Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s004390000265