3 Matching Annotations
  1. Last 7 days
  2. link.springer.com link.springer.com
    Germline mutations in the von Hippel–Lindau disease (VHL) gene in mainland Chinese families
    1
    1. Vibhor 09 Jul 2026
      4 partial deletions

      GroupID/ KindredID: 22

      Case: Age unknown, Sex unknown, Chinese

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: No family history. Genetic testing of their parents confirmed a de novo mutation.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0002666; HP:0005584; HP:0009711; HP:0001732 (pheochromocytoma; renal cell carcinoma; retinal capillary hemangioma; pancreatic lesion)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Exon 1 deletion

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVar: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence:N/A

      MutationType: exon_loss_variant

      CivicName: Exon 1 Deletion

      MultipleGeneVariants: N/A

      Mutation:Germline DiseaseEntity:hemangioblastoma InheritancePattern:DeNovoAssertion deNovoConfirmed RefSeq:AF010238.1 CivicName:Exon1Deletion MutationType:exon_loss_variant NonFamilial Ethnicity:Chinese CAID:N/A ClinVarID:N/A ClinGen VHL hgnc_imputed:assumed_refseq_tag
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    link.springer.com/article/10.1007/s00432-008-0399-x
  3. link.springer.com link.springer.com
    Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene
    1
    1. Vibhor 09 Jul 2026
      In four families, partial deletions of one or more exons were detected by Southern blot analysis

      PatientID: unknown (brother)

      KindredID: A

      Case: M (deceased), Age unknown, Turkish

      DiseaseAssertion: assumed VHL

      FamilyInfo: 5 family members are grouped with this deletion (ages 16-37Y; mean 31Y). VHL was clinically diagnosed in, at minimum, the proband. See Fig. 2 for family pedigree. This patient and his one brother were not tested for the DNA deletion however it is assumed by the authors due to the segregation observed.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0009711; HP:0002666; HP:0005584 (retinal capillary hemangioma; pheochromocytoma; renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Deletion of exons 1 and 2

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: not tested for the DNA deletion however it is assumed by the authors due to the segregation observed.

      MutationType: exon_loss_variant

      CivicName: exon 1-2 deletion

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Turkish DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551.3 UnregisteredVariant ClinVarID:N/A MutationType:exon_loss_variant CivicName:Exon1-2Deletion Familial FamilyPedigree ClinGen VHL hgnc_imputed:assumed_refseq_tag
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    link.springer.com/article/10.1007/s004390000265
  4. 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. Vibhor 09 Jul 2026

      PatientID: 246

      KindredID: 246

      Case: Sex Unknown, 26Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797; HP:0009711; HP:0006770 (Hemangioblastoma, Retinal capillary hemangioma, Clear cell renal cell carcinoma)

      CaseHPOFreeText: CNS and retinal hemangioblastoma and clear cell renal cell carcinoma.

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished:N/A

      SupplementalData: Table S1, S2 and S3

      Variant: Partial Deletion (0.7kb)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: deletion

      CivicName: Partial deletion of 0.7kb

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:clearcellrenalcellcarcinoma Mutation:Germline RefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A CAID:N/A UnregisteredVariant MutationType:deletion CivicName:Partialdeletionof0.7kb Familial NoFamilyInfo SupplementalData ClinGen VHL hgnc_imputed:assumed_refseq_tag
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    pubmed.ncbi.nlm.nih.gov/21463266/