4 Matching Annotations
  1. Last 7 days
  2. www.jmdjournal.org www.jmdjournal.org
    Optimization of Next-Generation Sequencing Technologies for von Hippel Lindau (VHL) Mosaic Mutation Detection and Development of Confirmation Methods
    1
    1. ClingenBaseline 26 Oct 2026
      M198434NoCentral nervous system Hb, two RCC3Yesc.490C>T p.(Gln164*)3.33.5Tissue not available

      PatientID: None

      KindredID: 4

      Case: M, 34Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: None.

      CasePresentingHPOs: HP:0010797, HP:0005584 (hemangioblastoma, renal cell carcinoma)

      CaseHPOFreeText: The patient had three tumours, one hemangioblastoma of the central nervous system and two renal cell carcinomas.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: Previously published in 24301059.

      SupplementalData: N/A

      Variant: p.Q164* (c.490C>T)

      LegacyVariant: N/A

      ClinVarID: 223228 https://www.ncbi.nlm.nih.gov/clinvar/variation/223228/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: The patient had a mosaic mutation with a mutated allele frequency of 3.3%. Copy number events of the mutated and wild type allele are available in table S4 of the supplemental.

      MutationType: stop_gained

      CivicName: Q164* (c.490C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline NonFamilial DiseaseEntity:renalcellcarcinoma DiseaseEntity:hemangioblastoma RefSeq:NM_000551.3 SupplementalData ProteinPosition:164 CivicName:Q164*(c.490C>T) cdnaposition:490 MutationType:stop_gained ClinVarID:223228 ClinVarID:Yes AminoAcidChange:GLNtoTER inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    jmdjournal.org/article/S1525-1578(18)30259-9/fulltext
  3. 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 25 Oct 2026

      GroupID/ KindredID: VHL 65

      Case: Sex unknown, Age unknown, Iranian

      DiseaseAssertion: assumed VHL

      FamilyInfo: One patient with the given mutation is stated to belong to VHL family 65

      CasePresentingHPOs: HP:0009711; HP:0010797; HP:0001737; HP:0000107; HP:0005584; HP:0008261 (retinal capillary hemangioma, hemangioblastoma, pancreatic cysts, renal cyst, renal cell carcinoma, pancreatic islet cell adenoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q164* (c.490C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.Q164* (c.703C>T)

      ClinVarID: 223228 https://www.ncbi.nlm.nih.gov/clinvar/variation/223228/

      CAID: CA357060 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.490C%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Q164* (c.490C>T)

      MultipleGeneVariants: N/A

      Ethnicity:Iranian Mutation:Germline DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts DiseaseEntity:renalcyst DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticisletcelladenoma DiseaseEntity:VHL Familial AminoAcidChange:GLNtoTER ProteinPosition:164 MutationType:stop_gained CivicName:Q164*(c.490C>T) cDNAposition:490 ClinVarID:223228 CAID:CA357060 ClinVarID:Yes InheritancePattern:AutosomalDominant inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s004390050206
  4. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype-phenotype correlation in von Hippel-Lindau disease
    2
    1. ClingenBaseline 21 Oct 2026
      2 (66.7)

      GroupID: 14a

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: a retrospective cohort study from an eye centre in Germany involved 148 VHL patients and their genetic data involved in retinal capillary hemangiomas.

      GroupPresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      GroupHPOFreeText: These 2/3 patients with a Q164* (c.490C>T) mutation had retinal capillary hemangiomas. Other VHL manifestations were discussed but not per- variant.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q164* (c.490C>T)

      LegacyVariant: N/A

      GroupProblemVariantFreeText: N/A

      ClinVarID: 223228 https://www.ncbi.nlm.nih.gov/clinvar/variation/223228/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Q164* (c.490C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:164 CivicName:Q164*(c.490C>T) cDNAposition:490 MutationType:stop_gained AminoAcidChange:GLNtoTER ClinVarID:223228 ClinVarID:Yes SupplementalData DiseaseEntity:VHL NoFamilyInfo DiseaseEntity:retinalcapillaryhemangioma inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      2 (66.7)

      GroupID: 14a

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: a retrospective cohort study from an eye centre in Germany involved 148 VHL patients and their genetic data involved in retinal capillary hemangiomas.

      GroupPresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      GroupHPOFreeText: These 2/3 patients with a Q164* (c.490C>T) mutation had retinal capillary hemangiomas. Other VHL manifestations were discussed but not per- variant.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q164* (c.490C>T)

      LegacyVariant: N/A

      GroupProblemVariantFreeText: N/A

      ClinVarID: 223228 https://www.ncbi.nlm.nih.gov/clinvar/variation/223228/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Q164* (c.490C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:164 CivicName:Q164*(c.490C>T) cDNAposition:490 MutationType:stop_gained AminoAcidChange:GLNtoTER ClinVarID:223228 ClinVarID:Yes SupplementalData DiseaseEntity:VHL NoFamilyInfo DiseaseEntity:retinalcapillaryhemangioma inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    URL

    onlinelibrary.wiley.com/doi/10.1111/aos.14843