10 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
    2
    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
    2. ClingenBaseline 29 Oct 2026
      Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected.

      GroupID/ KindredID: 4485NCI

      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 National Cancer Institute database, with an unknown number of members belonging to Family ID 4485NCI. Table 4 lists all ID and mutations associated with individuals with pheochromocytoma.

      GroupPresentingHPOs: HP:0002666 (pheochromocytoma)

      GroupHPOFreeText: Described as a VHL family with pheochromocytoma. Other phenotypes are likely, including renal cell carcinoma, however not detailed here.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L158P (c.473T>C)

      LegacyVariant: p.L158P (c.686T>C)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182980 https://www.ncbi.nlm.nih.gov/clinvar/variation/182980/

      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; transition

      CivicName: L158P (c.473T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:pheochromocytoma Mutation:Germline RefSeq:AF010238.1 cDNAposition:473 CivicName:L158P(c.473T>C) AminoAcidChange:LEUtoPRO ProteinPosition:158 MutationType:missense_variant;transition ClinVarID:182980 ClinVarID:Yes Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    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
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/abs/10.1002/humu.10309
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Obstructive jaundice due to von Hippel-Lindau disease-associated pancreatic lesions: A case report
    1
    1. ClingenBaseline 02 Nov 2026
      In 1998, a 20-year-old male was admitted to the General Hospital of Tianjin Medical University (Tianjin, China) with symptoms of dizziness, unsteadiness and nausea for three weeks, as well as vomiting for one week. Magnetic resonance imaging (MRI) revealed a mass in the cerebellar vermis and surgery was performed to excise the tumor. The pathological examination identified a hemangioblastoma. Three years later, the patient was readmitted to hospital due to dizziness lasting for one week. An MRI examination showed recurrence of the hemangioblastoma in the cerebellum and the patient underwent surgery to resect the tumor. In April 2012, the patient was readmitted to hospital for the third time due to jaundice. An enhanced computed tomography (CT) scan of the abdomen revealed multiple RCCs in the kidneys, and a nodule with a rich blood supply in the pancreatic head. In addition, numerous cysts were identified throughout the pancreas (Fig. 1). These observations were confirmed by magnetic resonance cholangiopancreatography, which revealed that the nodule in the pancreatic head was ~2.9×2.2 cm in size and possibly a NET. Due to the size and location of the tumor, the bile duct in the pancreas was compressed and the upper parts of the common bile and hepatic ducts were dilated. Since it was not possible to excise the RCCs, the patient also refused surgery to resect the pancreatic head mass. A metallic stent was placed at the stenosis site of the common bile duct, which alleviated the jaundice (Figs. 2 and ​and3).3). Nine months later, the patient returned to the hospital with a fever, abdominal pain and jaundice. An enhanced abdominal CT was performed, which revealed no change in the size of the pancreatic head mass. The patient’s symptoms were relieved following anti-inflammatory therapy for one week. However, the patient continued to suffer the same symptoms every two months, and gradually, anti-inflammatory therapy failed to alleviate the symptoms. Radiography tests revealed complete blockage of the stent and thus, percutaneous transhepatic cholangiography (PTCD) surgery was performed.

      PatientID: 1 (proband)

      KindredID: 1

      Case: M, 34Y0M, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: Recorded family history of VHL disease, with the patient’s mother, grandmother, two uncles and three aunts also suffering from the disease. Additionally, one uncle had succumbed to RCC and five other individuals in the family had succumbed to cerebral hemangioblastomas. No mutation was stated.

      CasePresentingHPOs: HP:0006880; HP:0005584; HP:0030405 (cerebellar hemangioblastoma; renal cell carcinoma; pancreatic endocrine tumour)

      CaseHPOFreeText: At 20Y was admitted to hospital with symptoms of dizziness, unsteadiness and nausea for three weeks, as well as vomiting for one week (cerebellar hemangioblastoma found in MRI); reoccured at 23Y. At 34Y patient had jaundice (multiple RCCs in the kidneys, and a nodule with a rich blood supply in the pancreatic head observed through CT). Numerous cysts were also identified throughout the pancreas (a possible PNET).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L158P (c.473T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182980 https://www.ncbi.nlm.nih.gov/clinvar/variation/182980/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: L158P (c.473T>C)

      MultipleGeneVariants: N/A

      Familial Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:L158P(c.473T>C) cDNAposition:473 ProteinPosition:158 AminoAcidChange:LEUtoPRO MutationType:missense_variant;transition ClinVarID:182980 ClinVarID:Yes DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:VHL InheritancePattern:AutosomalDominant inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4063595/
  5. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/10761708/
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular Characterization of a Novel Germline VHL Mutation by Extensive In Silico Analysis in an Indian Family with Von Hippel-Lindau Disease
    1
    1. ClingenBaseline 30 Oct 2026
      another affected relative [III-A, in the pedigree]

      PatientID: III-A

      KindredID: 1

      Case: M, 30Y0M, EthnicityUnknown

      DiseaseAssertion: VHL

      FamilyInfo: Multiple first- and second-degree relatives affected with similar phenotypes. Of these, he is genetically tested and found to share VHL mutations with his uncle (proband).

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Paper asserts that this individual presented with VHL phenotypes but does not specify which.

      CaseNotHPOs: NA

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Information obtained from Figure 1

      Variant: p.L158Q (c.473T>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 376048, https://www.ncbi.nlm.nih.gov/clinvar/variation/376048/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: P86S (c.256C>T) and Splice Region (c.340+5G>C)

      MultipleGeneVariants: Germline, VHL, c.340+5G>C

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline RefSeq:NM_000551 AssumedRefSeq:NM_000551.3 cDNAposition:473 ProteinPosition:158 AminoAcidChange:LEUtoGLN ClinVarID:376048 ClinVarID:Yes MultipleVHLVariants MutationType:missense_variant;transversion PreviousTesting: N/A FamilyPedigree Familial SupplementalData CivicName:P86S(c.256C>T)andSpliceRegion(c.340+5G>C) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4812357/
  7. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Germline mutations in the von Hippel–Lindau disease tumor suppressor gene: Correlations with phenotype
    1
    1. ClingenBaseline 30 Oct 2026

      GroupID: 4408

      DiseaseAssertion: assumed VHL

      GroupSize: 25

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Familial VHL stated; 25 family members recorded with this mutation.

      GroupPresentingHPOs: HP:0010797; HP:0005584; HP:0009711 (hemangioblastoma, renal cell carcinoma, retinal capillary hemangioma)

      GroupHPOFreeText: 14 of the 25 members had an angioma (retinal hemangioma), 2 had RCC, and 16 members had CNS hemangioblastoma.

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L158P (c.473T>C)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.L158P (c.686T>C)

      ClinVarID: 182980 https://www.ncbi.nlm.nih.gov/clinvar/variation/182980/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: L158P (c.473T>C)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma CivicName:L158P(c.473T>C) cDNAposition:473 ProteinPosition:158 AminoAcidChange:LEUtoPRO ClinVarID:182980 MutationType:missense_variant;transition Familial Mutation:Germline RefSeq:AF010238.1 ClinVarID:Yes InheritancePattern:AutosomalDominant DiseaseEntity:retinalcapillaryhemangioma FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/10.1002/humu.1380050109
  8. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    erc.bioscientifica.com/view/journals/erc/17/4/875.xml
  9. Oct 2026
  10. 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 24 Oct 2026
      1 France c.473T>C p.Leu158Pro

      GroupID: 23

      Case: Sex, Age, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: Unknown. 1 registrant from France 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.L158P (c.473T>C)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 182980 https://www.ncbi.nlm.nih.gov/clinvar/variation/182980/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: L158P (c.473T>C)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:endolymphaticsactumor Mutation:Germline RefSeq:NM_000551.3 cDNAposition:473 ProteinPosition:158 AminoAcidChange:LEUtoPRO CAID:CA020399 ClinVarID:182980 CivicName:L158P(c.473T>C) MutationType:missense_variant;transition ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/full/10.1002/hed.24067
  11. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma
    1
    1. ClingenBaseline 21 Oct 2026

      GroupID: V43

      DiseaseAssertion: VHL

      GroupSize: 4

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: French

      GroupAgeRange: N/A

      GroupInfo: Patients are grouped by family.

      FamilyInfo: 4/7 members of this family that underwent genetic testing had the same mutation.

      GroupPresentingHPOs: N/A

      GroupHPOFreeText: Diagnosed with VHL Type 1.

      GroupNotHPOs: HP:0002666 (Pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: Likely 15300849

      SupplementalData: N/A

      Variant: p.L158dup (c.473_474insTTT)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2573320246, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573320246

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_insertion

      CivicName: L158dup (c.473_474insTTT)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:French DiseaseEntity:VHL Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:473 ProteinPosition:158 AminoAcidChange:N/A ClinVarID:N/A CAID:CA2573320246 MutationType:inframe_insertion CivicName:L158dup(c.473_474insTTT) Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/9829912/