5 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Exploring the role of defective fibronectin matrix assembly in the VHL-associated CNS hemangioblastoma
    1
    1. ClingenBaseline 31 Oct 2026
      PMID: 29813026

      PatientID: 2

      KindredID: 2

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: N/A - Not specified

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: VHL syndromic HB (both germline and somatic variants were observed

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R120_121S (c.360_362delAGA)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2573131861 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573131861

      gnomAD: N/A

      VariantEvidence: A VHL subject in our patient population had a full length deletion (FLD) in the germline VHL gene, but a VHL gene tumor second hit mutation (c.360_362delAGA) causing an amino acid change of p.R120-121S detected in the HB tumor

      MutationType: delins

      CivicName: Deletion AND R120_121S (c.360_362delAGA)

      MultipleGeneVariants: Germline, VHL, complete deletion

      InheritancePattern:AutosomalDominant DiseaseEntity:hemangioblastoma Mutation:Somatic AssumedRefSeq:NM_000551.3 ClinVarID:N/A CAID:CA2573131861 NoFamilyInfo MultipleVHLVariants cDNAposition:360 cDNAposition:362 ProteinPosition:120 ProteinPosition:121 AminoAcidChange:ARGtoSER MutationType:deletion MutationType:delins CivicName:DeletionANDR120_121S(c.360_362delAGA) CivicName:R120_121S(c.360_362delAGA) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/29813026/
  3. Oct 2026
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Development of synchronous VHL syndrome tumors reveals contingencies and constraints to tumor evolution
    1
    1. ClingenBaseline 29 Oct 2026
      Clinical case reportA 32-year-old male presented with hematuria. Ultrasound demonstrated multiple renal cysts and the initial diagnosis was polycystic kidney disease. However, the cysts enlarged during a surveillance period of one year, leading to computed tomography imaging demonstrating a locally advanced right renal tumor, and two tumors in the left kidney (Figure 1). Further investigation revealed capillary retinal angiomas and hemangiomas of the brain and spine typical of VHL disease, and he was diagnosed with a de novo, germline nonsense mutation in exon 3 of the VHL gene. At the age of 33, the patient underwent a radical right nephrectomy; histopathological examination confirmed a single stage 3, Fuhrman grade 3 ccRCC (pT3aN0M0). Six months later, there was progression in the left kidney and he was treated with partial left nephrectomy to remove both tumors. Both were stage 1 ccRCCs with a maximum Fuhrman grade of 2 (pT1aN0M0). At the time of this report, the patient remains in complete remission.

      PatientID: None

      KindredID: 1

      Case: M, 32Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0000790, HP:0009711, HP:0000107, HP:0009713, HP:0010797, HP:0006770 (hematuria, retinal capillary hemangioma, renal cyst, spinal hemangioblastoma, hemangioblastoma, clear cell renal cell carcinoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R120*(c.358A>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351753732 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.358A%3ET

      gnomAD: N/A

      VariantEvidence: All tumor regions also displayed 3p LOH.

      MutationType: stop_gained

      CivicName: R120*(c.358A>T)

      MultipleGeneVariants: Somatic, VHL, not described

      MutationType:stop_gained Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL NoFamilyInfo DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcyst DiseaseEntity:spinalhemangioblastoma DiseaseEntity:hemangioblastoma DiseaseEntity:clearcellrenalcellcarcinoma AgeOfPresentation:clearcellrenalcellcarcinoma:32 AgeOfPresentation:renalcyst:32 cDNA:358 ProteinPosition:120 CAID:CA351753732 ClinVarID:N/A CivicName:R120*(c.358A>T) MultipleVHLVariants InheritancePattern:DeNovoAssertion AminoAcidChange:ARGtoTER ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4166471/
  5. erc.bioscientifica.com erc.bioscientifica.com
    Calculating optimal surveillance for detection of von Hippel–Lindau-related manifestations
    1
    1. ClingenBaseline 29 Oct 2026
      c.358A>G1 (1)115HBsc

      GroupID: None

      Case: Sex Unknown, 15Y0M, Dutch

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0009713 (Spinal hemangioblastoma)

      CaseHPOFreeText: Diagnosed with VHL Type 1.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 31087189

      SupplementalData: N/A

      Variant: p.R120G (c.358A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223199, https://www.ncbi.nlm.nih.gov/clinvar/variation/223199/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R120G (c.358A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Dutch DiseaseEntity:VHL DiseaseEntity:spinalhemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:358 ProteinPosition:120 AminoAcidChange:ARGtoGLY ClinVarID:223199 MutationType:missense_variant;transition CivicName:R120G(c.358A>G) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    erc.bioscientifica.com/view/journals/erc/21/1/63.xml
  6. erc.bioscientifica.com erc.bioscientifica.com
    Paediatric pancreatic neuroendocrine tumours in von Hippel–Lindau disease
    1
    1. ClingenBaseline 24 Oct 2026
      and 9

      PatientID: None

      KindredID: 1

      Case: F, 9Y0M, Ethnicity Unknown

      DiseaseAssertion: Asymptomatic

      FamilyInfo: This patient had an older brother who at 7-years-old, presented with multiple retinal haemangiomas. At the age of 9, he underwent a left adrenalectomy for a phaeochromocytoma. At the age of 13, a 9 mm solid lesion consistent with a pNET. This patient also had a renal cell carcinoma. They also had a 12-year old younger brother who had a retinal hemangioma. The patients father was diagnosed with VHL at 31 years-old and had multiple cerebellar haemangioblastomas, retinal angiomas, a phaeochromocytoma, a ccRCC and a small pNET. Pedigree: See Figure 1.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0002666, HP:0005584, HP:0009711, HP:0030405 (pheochromocytoma, renal cell carcinoma, Retinal capillary hemangioma, Pancreatic endocrine tumor)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Arg120* (c.358A>T)

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA351753732 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA351753732

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R120*(c.358A>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:asymptomatic InheritancePattern:AutosomalDominant AssumedRefSeq:NM_000551.3 cDNAposition:358 AminoAcidChange:ARGto* CAID:CA351753732 MutationType:stop_gained CivicName:R120*(c.358A>T) Mutation:Germline ProteinPosition:120 ClinVarID:N/A Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    erc.bioscientifica.com/view/journals/erc/25/9/ERC-18-0123.xml
  7. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Characterization of endolymphatic sac tumors and von Hippel–Lindau disease in the International Endolymphatic Sac Tumor Registry
    1
    1. ClingenBaseline 21 Oct 2026
      1 Italy c.358A>G p.Arg120Gly

      GroupID: 15

      Case: Sex unknown, Age unknown, Italian

      DiseaseAssertion: VHL

      FamilyInfo: Unknown. 1 registrant was found with this variant; no family info was mentioned

      CasePresentingHPOs: HP:0030393 (Endolymphatic sac tumor)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R120G (c.358A>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 223199 https://www.ncbi.nlm.nih.gov/clinvar/variation/223199/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: R120G (c.358A>G)

      MultipleGeneVariants: N/A

      AminoAcidChange:ARGtoGLY ProteinPosition:120 cDNAposition:358 MutationType:missense_variant;transition CivicName:R120G(c.358A>G) ClinVarID:223199 EvidenceStatement Ethnicity:Italian Mutation:Germline DiseaseEntity:VHL DiseaseEntity:endolymphaticsactumor RefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/full/10.1002/hed.24067