4 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan
    1
    1. ClingenBaseline 04 Nov 2026
      Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected.

      GroupID/ KindredID: 91CA

      DiseaseAssertion: VHL

      GroupSize: N/A

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: This germline familial VHL mutation was taken from the Cambridge, Department of Pathology database, with an unknown number of members belonging to Family ID 91CA. Table 3 lists all ID and mutations associated with individuals possessing renal carcinoma, without pheochromocytoma.

      GroupPresentingHPOs: HP:0005548 (renal cell carcinoma)

      GroupHPOFreeText: Described as a VHL family with RCC, without pheochromocytoma. Other phenotypes are likely, however not detailed in this publication

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L158V (c.472C>G)

      LegacyVariant: p.L158V (c.685C>G)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 567944 https://www.ncbi.nlm.nih.gov/clinvar/variation/567944/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: This paper declares this variant is predicted to compromise the Elongin-binding site by location between codons 157 and 189.

      MutationType: missense_variant; transversion

      CivicName: L158V (c.472C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:renalcellcarcinoma cDNAposition:472 CivicName:L158V(c.472C>G) ProteinPosition:158 AminoAcidChange:LEUtoVAL MutationType:missense_variant;transversion ClinVarID:567944 ClinVarID:Yes Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/8956040/
  3. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genetic characterization and structural analysis of VHL Spanish families to define genotype–phenotype correlations
    1
    1. ClingenBaseline 03 Nov 2026

      GroupID/ KindredID: F35

      Case: Sex unknown, 21Y0M, Spanish

      DiseaseAssertion: assumed VHL

      FamilyInfo: familial antecedents found with pancreatic tumors

      CasePresentingHPOs: HP:0000107; HP:0009711; HP:0006880; HP:0001737 (renal cysts, retinal capillary hemangioma, cerebellar hemangioblastoma, pancreatic cysts)

      CaseHPOFreeText: Age of onset is 21Y0M.

      CaseNotHPOs: HP:0006770; HP:0002666 (clear cell renal cell carcinoma, pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L158V (c.472C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 567944 https://www.ncbi.nlm.nih.gov/clinvar/variation/567944/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: L158V (c.472C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline Ethnicity:Spanish Familial DiseaseEntity:VHL DiseaseEntity:renalcyst DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:pancreaticcysts RefSeq:AF010238.1 CivicName:L158V(c.472C>G) cDNAposition:472 ProteinPosition:158 AminoAcidChange:LEUtoVAL MutationType:missense_variant;transversion ClinVarID:567944 ClinVarID:Yes ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.10309
  4. 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 30 Oct 2026

      GroupID: 69

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: Japanese

      GroupAgeRange: N/A

      GroupInfo: 2 individuals from a single family (ID 69).

      GroupPresentingHPOs: HP:0002666; HP:0005584; HP:0001732; HP:0010797 (Pheochromocytoma, Renal cell carcinoma, Abnormality of the pancreas, Hemangioblastoma)

      GroupHPOFreeText: Pheochromocytoma (1/2), CNS hemangioblastoma (2/2), pancreatic cyst or tumor (unspecified) (2/2) and renal cell carcinoma (1/2).

      GroupNotHPOs: HP:0009711 (Retinal capillary hemangioma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L158V (c.472C>G)

      LegacyVariant: c.685C>G

      CaseProblemVariantFreeText: N/A

      ClinVarID: 567944, https://www.ncbi.nlm.nih.gov/clinvar/variation/567944/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: L158V (c.472C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Japanese DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:pheochromocytoma DiseaseEntity:hemangioblastoma DiseaseEntity:abnormalityofthepancreas Mutation:Germline RefSeq:AF010238.1 cDNAposition:472 ProteinPosition:158 AminoAcidChange:LEUtoVAL ClinVarID:567944 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:L158V(c.472C>G) Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10761708/
  5. Oct 2026
  6. erc.bioscientifica.com erc.bioscientifica.com
    Systematic comparison of sporadic and syndromic pancreatic islet cell tumors
    1
    1. ClingenBaseline 29 Oct 2026
      c.472 C>Gap.L158V

      GroupID: 20B

      Case: Sex, Age, Ethnicity unknown

      DiseaseAssertion: Unknown. Patient was pulled from either the VHL-Registry or NET- Registry and recorded with the given mutation. Symptoms or manifestations are not clear.

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: HP:0030405 (pancreatic endocrine tumor)

      CasePreviousTesting: Patient was negatively tested for islet cell tumors (ICTs), or listed as pancreatic endocrine tumor.

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L158V (c.472C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 567944 https://www.ncbi.nlm.nih.gov/clinvar/variation/567944/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: L158V (c.472C>G)

      MultipleGeneVariants: N/A

      RefSeq:NM_000551.2 Mutation:Germline NoFamilyInfo ClinVarID:Yes ClinVarID:567944 CivicName:L158V(c.472C>G) cDNAposition:472 ProteinPosition:158 AminoAcidChange:LEUtoVAL MutationType:missense_variant;transversion inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    erc.bioscientifica.com/view/journals/erc/17/4/875.xml