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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germ‐line Mutation Analysis in Patients with von Hippel‐Lindau Disease in Japan: An Extended Study of 77 Families
    1
    1. ClingenBaseline 02 Nov 2026

      PatientID: None

      KindredID: 105

      Case: Sex Unknown, Age Unknown, Japanese

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797; HP:0005584; HP:0001732 (Hemangioblastoma, Renal cell carcinoma, Abnormality of the pancreas)

      CaseHPOFreeText: CNS hemangioblastoma, pancreatic cyst or tumor (unspecified) and renal cell carcinoma.

      CaseNotHPOs: HP:0009711 (Retinal capillary hemangioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.E173Rfs*29 (c.516del)

      LegacyVariant: c.729del

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA645525089, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.516del

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: deletion; minus_1_frameshift_variant

      CivicName: E173Rfs*29 (c.516del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Japanese DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:abnormalityofthepancreas Mutation:Germline RefSeq:AF010238.1 cDNAposition:516 ProteinPosition:173 AminoAcidChange:GLUtoARG ClinVarID:N/A CAID:CA645525089 MutationType:minus_1_frameshift_variant MutationType:deletion CivicName:E173Rfs*29(c.516del) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10761708/
  3. www.tandfonline.com www.tandfonline.com
    Molecular-genetic diagnostics of von Hippel-Lindau syndrome (VHL) in Bulgaria: first complex mutation event in the VHL gene
    1
    1. ClingenBaseline 30 Oct 2026
      The novel CME combines a duplication and an indel, rearranging exon 3 of the VHL gene-c. [516_517dupGTCAAGCCT; 532_542delCTGGACATCGTinsATTA], p. (Glu173Serfs*4) (Figure 2). This genetic rearrangement was detected in a 27-year-old female (patient #3) with an infratentorial tumour, initially considered on MRI to be ependymoma or haemangiopericytoma, but having the typical characteristics of cHB (Figure 3). After operation, HB of the cerebellum was histologically proven. Family history revealed that the patient's father has been operated for cHB and rHB, but unfortunately, the family has never been informed that the father's condition is VHL, which is an inheritable disease, and that the offspring should undergo regular screening by MRI of CNS beginning in adolescence [9Maher ER, Neumann HP, Richard S. Von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet. 2011;19(6):617–623. [Crossref], [PubMed], [Web of Science ®], [Google Scholar],22Shuin T, Yamasaki I, Tamura K, et al. Von Hippel-Lindau disease: molecular pathological basis, clinical criteria, genetic testing, clinical features of tumors and treatment. Jpn J Clin Oncol. 2006;36:337–343. [Crossref], [PubMed], [Web of Science ®], [Google Scholar]]. The index patient might be classified as having the so called ‘type 1 VHL’ (rHB and cHB but at a low risk of RCC), which is related to contiguous deletion of all or part of VHL [9Maher ER, Neumann HP, Richard S. Von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet. 2011;19(6):617–623. [Crossref], [PubMed], [Web of Science ®], [Google Scholar]]. Unfortunately, the father was not available for performing molecular genetic testing.

      PatientID: 3

      KindredID: 3

      Case: F, 27Y0M, Bulgarian

      DiseaseAssertion: VHL

      FamilyInfo: Positive family history of retinal HB and CNS HB - father was operated on for both; he was not available for performing molecular genetic testing thus no genotype was confirmed.

      CasePresentingHPOs: HP:0010797; HP:0009711 (hemangioblastoma, retinal capillary hemangioma)

      CaseHPOFreeText: retinal capillary hemangioma was found in this patient; and an infratentorial tumour, initially considered on MRI to be ependymoma or haemangiopericytoma, but having the typical characteristics of cHB - after operation, HB of the cerebellum was histologically proven.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.E173Sfs*4 (c.516_517dupGTCAAGCCT; 532_542delCTGGACATCGTinsATTA)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: A duplication and deletion-insertion are both involved in this protein change.

      ClinVarID: N/A

      CAID: Two CAIDs are associated with the cDNA changes, just note that together they result in one protein change, which is not registered. - CA2499306821 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2499306821 (c.516_517dupGTCAAGCCT) - CA2499306820 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2499306820 (c.532_542delCTGGACATCGTinsATTA) - p.E173Sfs4 NOT* registered with associating p.s

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: duplication AND delins

      CivicName: c.516_517dupGTCAAGCCT and c.532_542delCTGGACATCGTinsATTA

      MultipleGeneVariants: SNP c.870A>G in CCND1 gene (A>G)

      InheritancePattern:AutosomalDominant Ethnicity:Bulgarian DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma cDNAposition:516 cDNAposition:532 ProteinPosition:173 AminoAcidChange:GLUtoSER Mutation:Germline RefSeq:NM_000551.3 MutationType:duplication MutationType:delins MultipleGeneVariants Familial ClinVarID:N/A UnregisteredVariant CAID:CA2499306820 CAID:CA2499306821 CAID:N/A CivicName:c.516_517dupGTCAAGCCTandc.532_542delCTGGACATCGTinsATTA inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    tandfonline.com/doi/full/10.1080/00207454.2017.1372436