4 Matching Annotations
  1. Last 7 days
  2. www.liebertpub.com www.liebertpub.com
    VHL Germline Mutations in Argentinian Patients with Clinical Diagnoses or Single Typical Manifestations of Type 1 von Hippel-Lindau Disease
    1
    1. ClingenBaseline 04 Nov 2026
      one nonsense VHL mutation was detected in a young patient with a solitary central nervous system hemangioblastoma without familial history.

      PatientID: 22

      KindredID: 22

      Case: 13Y0M, Sex Unknown, Argentinian

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: No family history

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: Aged 13Y at diagnosis (genetic testing); does not fulfil type 1 VHL clinical diagnosis. Solitary CNS angiomas diagnosed at 13Y (See Table 1 & 2).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: did not develop other manifestations of the disease during a 5- year follow-up.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W88* (c.264G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 936684 https://www.ncbi.nlm.nih.gov/clinvar/variation/936684/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: W88* (c.264G>A)

      MultipleGeneVariants: N/A

      ClinVarID:936684 ClinVarID:Yes Ethnicity:Argentinian DiseaseEntity:hemangioblastoma AgeOfPresentation:hemangioblastoma:13 Mutation:Germline RefSeq:NM_000551.3 CivicName:W88*(c.264G>A) cDNAposition:264 ProteinPosition:88 AminoAcidChange:TRPtoTER MutationType:stop_gained NonFamilial ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    liebertpub.com/doi/10.1089/gtmb.2016.0204
  3. onlinelibrary-wiley-com.ezproxy.lib.ryerson.ca onlinelibrary-wiley-com.ezproxy.lib.ryerson.ca
    von Hippel-Lindau development in children and adolescents
    1
    1. ClingenBaseline 03 Nov 2026
      II 8 53 2 pheo (8 years) 2 CNS hb (12 + 13 years) 2 retinal hb (8 + 12 years) M c.496G > T (p.Val166Phe)

      PatientID: II

      KindredID: 15

      Case: Sex Unknown, 53Y0M, Danish

      DiseaseAssertion: VHL

      FamilyInfo: 2 other family members presented with the same VHL variant. Patient 15-I was asymptomatic. Patient 15-III presented with 2 pheochromocytoma (15Y).

      CasePresentingHPOs: HP:0002666; HP:0010797; HP:0009711 (Pheochromocytoma, Hemangioblastoma, Retinal capillary hemangioma)

      CaseHPOFreeText: Diagnosed with VHL at age 8Y. Presented with 2 pheochromocytoma (8Y) 2 CNS hb (12Y and 13Y) and 2 retinal hemangioblastomas (8Y, 12Y). Age at the end of study: 53Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V166F (c.496G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2224, https://www.ncbi.nlm.nih.gov/clinvar/variation/2224/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: V166F (c.496G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Danish DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pheochromocytoma AgeOfPresentation:hemangioblastoma:12 AgeOfPresentation:hemangioblastoma:13 AgeOfPresentation:retinalcapillaryhemangioma:8 AgeOfPresentation:retinalcapillaryhemangioma:12 AgeOfPresentation:pheochromocytoma:8 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:496 ProteinPosition:166 AminoAcidChange:VALtoPHE ClinVarID:2224 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:V166F(c.496G>T) Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary-wiley-com.ezproxy.lib.ryerson.ca/doi/full/10.1002/ajmg.a.38324
  4. cancerres.aacrjournals.org cancerres.aacrjournals.org
    Telomere Shortening Is Associated with Genetic Anticipation in Chinese Von Hippel–Lindau Disease Families
    1
    1. ClingenBaseline 02 Nov 2026
      c.349T>G p.Trp117Gly

      PatientID: III:7

      KindredID: 7

      Case: M, 13Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: 8 other members of this 3 generation family were observed to be affected with various presentations of VHL. This patient’s father and 3 cousins were confirmed with identical mutations. DNA samples were not available for all members in the family however.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: had hemangioblastoma at 13Y

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W117G (c.349T>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 862346 https://www.ncbi.nlm.nih.gov/clinvar/variation/862346/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: W117G (c.349T>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:VHL DiseaseEntity:hemangioblastoma AgeOfPresentation:hemangioblastoma:13 ClinVarID:862346 ClinVarID:Yes ExperimentalAssay Familial FamilyPedigree Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:117 CivicName:W117G(c.349T>G) cDNAposition:349 AminoAcidChange:TRPtoGLY MutationType:missense_variant;transversion inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    cancerres.aacrjournals.org/content/74/14/3802
  5. Oct 2026
  6. onlinelibrary-wiley-com.ezproxy.lib.ryerson.ca onlinelibrary-wiley-com.ezproxy.lib.ryerson.ca
    von Hippel-Lindau development in children and adolescents
    1
    1. ClingenBaseline 22 Oct 2026
      12 I 5 21 5 retinal hb (5 + 13 + 14 years) 6 CNS hb (15 + 17 years) 3 PC (15 years) T c.l-?_463 + ?del

      PatientID: I

      KindredID: 12

      Case: Sex Unknown, 21Y0M, Danish

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0009711; HP:0010797; HP:0001737 (Retinal capillary hemangioma, Hemangioblastoma, Pancreatic cysts)

      CaseHPOFreeText: Diagnosed with VHL at age 5Y. Presented with 5 retinal hemangioblastoma (5Y, 13Y, 14Y) 6 CNS hemangioblastoma (15Y, 17Y) 3 pancreatic cysts (15Y). Age at the end of study: 21Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Exon 1-2 Deletion (c.1-?_463+?del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

      CivicName: Exon 1-2 Deletion

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Danish DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts AgeOfPresentation:retinalcapillaryhemangioma:5 AgeOfPresentation:retinalcapillaryhemangioma:13 AgeOfPresentation:retinalcapillaryhemangioma:14 AgeOfPresentation:hemangioblastoma:15 AgeOfPresentation:hemangioblastoma:17 AgeOfPresentation:pancreaticcysts:15 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A MutationType:exon_loss_variant UnregisteredVariant CivicName:Exon1-2Deletion NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    onlinelibrary-wiley-com.ezproxy.lib.ryerson.ca/doi/full/10.1002/ajmg.a.38324