3 Matching Annotations
  1. Last 7 days
  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype–phenotype correlations in von Hippel-Lindau disease
    1
    1. ClingenBaseline 26 Oct 2026

      GroupID: 28

      Case: 24Y0M, Sex Unknown, Ethnicity Unknown

      DiseaseAssertion: retinal capillary hemangioma

      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:0009711 (retinal capillary hemangioma) 

      CaseHPOFreeText: patient had retinal capillary hemangioma diagnosed at 24Y

      CaseNotHPOs: HP:0002666; HP:0006880; HP:0005584 (pheochromocytoma; cerebellar hemangioblastoma; renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S1.

      Variant: p.L153Tfs*21 (c.456dupA) 

      LegacyVariant: c.455_456insA

      CaseProblemVariantFreeText: c.455_456insA automaps to c.456dupA due to redundancy

      ClinVarID: N/A

      CAID: CA2499307154 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2499307154

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: duplication

      CivicName: T152fs (c.455insA)

      MultipleGeneVariants: N/A

      DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:retinalcapillaryhemangioma:24 CAID:CA2499307154 ClinVarID:N/A cDNAposition:456 MutationType:duplication ProteinPosition:153 AminoAcidChange:LEUtoTHR CivicName:T152fs(c.455insA) NoFamilyInfo Mutation:Germline RefSeq:NM_000551.2 ExperimentalAssay SupplementalData InheritancePattern:AutosomalDominant inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/10.1002/humu.20385
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Identification of intragenic mutations in the Von Hippel — Lindau disease tumour suppressor gene andcorrelation with disease phenotype
    1
    1. ClingenBaseline 26 Oct 2026

      KindredID: 99

      GroupID: 30

      GroupSize: Unknown

      GroupNumberMales: Unknown

      GroupNumberFemales: Unknown

      GroupEthnicity: Unknown

      GroupAgeRange: Unknown

      DiseaseAssertion: VHL

      GroupInfo: Kindred no. 99 describes a family where at least one member (unspecified how many) had this mutation in the VHL gene. No phenotypic information is listed for this kindred.

      GroupPresentingHPOs: N/A

      GroupHPOFreeText: No phenotypic information is listed for this kindred.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: L153Cfs*6 (c.457del)

      LegacyVariant: p.224fs (c.670delC)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA432421920

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: L153fs (c.457delC)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline RefSeq:AF010238.1 cDNAposition:457 ProteinPosition:153 AminoAcidChange:LEUtoCYS CAID:CA432421920 MutationType:minus_1_frameshift_variant MutationType:deletion FamilyCohort CivicName:L153fs(c.457delC) ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/7987306/
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan
    1
    1. ClingenBaseline 25 Oct 2026
      Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected.

      GroupID/ KindredID: 41CA

      DiseaseAssertion: VHL

      GroupSize: N/A

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: This germline familial VHL mutation was taken from the Cambridge, Department of Pathology database, with an unknown number of members belonging to Family ID 41CA. Table 3 lists all ID and mutations associated with individuals possessing renal carcinoma, without pheochromocytoma.

      GroupPresentingHPOs: HP:0005548 (renal cell carcinoma)

      GroupHPOFreeText: Described as a VHL family with RCC, without pheochromocytoma. Other phenotypes are likely, however not detailed in this publication

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L153Cfs*6 (c.457delC)

      LegacyVariant: FS (c.670delC)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA432421920 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.457delC

      gnomAD: N/A

      VariantEvidence: This paper declares this variant is predicted to compromise the Elongin-binding site by truncating the protein.

      MutationType: minus_1_frameshift_variant

      CivicName: L153fs (c.457delC)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:renalcellcarcinoma ProteinPosition:153 cDNAposition:457 CivicName:L153fs(c.457delC) MutationType:minus_1_frameshift_variant AminoAcidChange:LEUtoCYS CAID:CA432421920 ClinVarID:N/A Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/8956040/