2 Matching Annotations
  1. Last 7 days
  2. link.springer.com link.springer.com
    Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe
    1
    1. ClingenBaseline 23 Oct 2026

      GroupID/ KindredID: VHL 29

      DiseaseAssertion: assumed VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: German

      GroupAgeRange: N/A

      GroupInfo: 2 patients with the given mutation belonging to VHL family 29

      GroupPresentingHPOs: HP:0009711; HP:0010797; HP:0002666 (retinal capillary hemangioma, hemangioblastoma, pheochromocytoma)

      GroupHPOFreeText: both (2) patients have retinal capillary hemangiomas, hemangioblastoma, and pheochromocytoma

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L178Q (c.533T>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.L178Q (c.746T>A)

      ClinVarID: 625260 https://www.ncbi.nlm.nih.gov/clinvar/variation/625260/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: allele-specific oligonucleotide (ASO) probes and hybridization conditions confirmed

      MutationType: missense_variant; transversion

      CivicName: L178Q (c.533T>A)

      MultipleGeneVariants: N/A

      Ethnicity:German Mutation:Germline DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma DiseaseEntity:pheochromocytoma RefSeq:AF010238.1 CivicName:L178Q(c.533T>A) cDNAposition:533 ProteinPosition:178 AminoAcidChange:LEUtoGLN MutationType:missense_variant;transversion ClinVarID:625260 ClinVarID:Yes InheritancePattern:AutosomalDominant Familial FamilyCohort inferred_gene_hgnc:5542 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s004390050206
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma
    1
    1. ClingenBaseline 23 Oct 2026

      PatientID: V80

      KindredID: V80

      Case: Sex Unknown, Age Unknown, French

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: Diagnosed with VHL Type 2B.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: Likely 15300849

      SupplementalData: N/A

      Variant: p.L140Qfs*3 (c.419_420del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA357039, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.419_420del

      gnomAD: N/A

      VariantEvidence: Reported as c.417del2 and mapped to c.419_420del.

      MutationType: deletion; minus_2_frameshift_variant

      CivicName: L140fs (c.419_420del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:419 ProteinPosition:140 AminoAcidChange:LEUtoGLN ClinVarID:N/A CAID:CA357039 MutationType:minus_2_frameshift_variant MutationType:deletion CivicName:L140fs(c.419_420del) NoFamilyInfo Ethnicity:French inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/9829912/