2 Matching Annotations
  1. Last 7 days
  2. eje.bioscientifica.com eje.bioscientifica.com
    Germline VHL gene mutations in Hungarian families with von Hippel–Lindau disease and patients with apparently sporadic unilateral pheochromocytomas
    1
    1. ClingenBaseline 25 Oct 2026
      same mutation in two out of the three clinically healthy brothers

      PatientID: None (Brother 2)

      KindredID: ASP (L63P)

      Case: M, Age Unknown, Hungarian

      DiseaseAssertion: Asymptomatic

      FamilyInfo: Family screening showed the presence of the L63P mutation in two out of the three clinically healthy brothers, whereas the mutation was absent in a clinically healthy son. Proband of this family presented with an apparently sporadic pheochromocytoma and the L63P germline mutation of the VHL gene.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L63P (c.188T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2227, https://www.ncbi.nlm.nih.gov/clinvar/variation/2227/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Variant reported as L63P and cDNA change was mapped to c.188T>C.

      MutationType: missense_variant;transition

      CivicName: L63P (c.188T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Hungarian DiseaseEntity:Asymptomatic Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:188 ProteinPosition:63 AminoAcidChange:LEUtoPRO ClinVarID:2227 ClinVarID:Yes MutationType:missense_variant;transition CivicName:L63P(c.188T>C) Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    eje.bioscientifica.com/view/journals/eje/161/3/495.xml
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations in the vhl gene in patients presenting with phaeochromocytomas
    1
    1. ClingenBaseline 22 Oct 2026

      PatientID: 37

      KindredID: 37

      Case: M, 35Y0M, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: Unilateral benign adrenal pheochromocytoma that was operated on at age 26.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 32179488

      SupplementalData: N/A

      Variant: p.L63P (c.188T>C)

      LegacyVariant: L63P (c.401T>C)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2227, https://www.ncbi.nlm.nih.gov/clinvar/variation/2227/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Variant reported as L63P (c.401T>C), legacy nomenclature (AF010238.1), and was mapped to p.Leu63Pro (c.188T>C) in accordance with reference sequence NM_000551.3.

      MutationType: missense_variant;transition

      CivicName: L63P (c.188T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:adrenalpheochromocytoma Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:188 ProteinPosition:63 AminoAcidChange:LEUtoPRO ClinVarID:2227 ClinVarID:Yes MutationType:missense_variant;transition CivicName:L63P(c.188T>C) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/9663592/