5 Matching Annotations
  1. Last 7 days
  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Germline mutations in the von Hippel–Lindau disease tumor suppressor gene: Correlations with phenotype
    1
    1. ClingenBaseline 26 Oct 2026

      GroupID: 4414

      DiseaseAssertion: assumed VHL

      GroupSize: 7

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Familial VHL stated; 7 family members recorded with this mutation.

      GroupPresentingHPOs: HP:0010797; HP:0009711; HP:0005584; HP:0002666 (hemangioblastoma, retinal capillary hemangioma, renal cell carcinoma, pheochromocytoma)

      GroupHPOFreeText: 2/7 members had retinal angiomas (hemangiomas), 3 had CNS hemangioblastomas, 1 had RCC and 1 had pheochromocytoma

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: 7728151 (type 2 4414NCI)

      SupplementalData: N/A

      Variant: p.F119L (c.357C>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.F190L (c.570C>G)

      ClinVarID: 625240 https://www.ncbi.nlm.nih.gov/clinvar/variation/625240/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: F119L (c.357C>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma DiseaseEntity:pheochromocytoma Familial FamilyCohort ClinVarID:Yes ClinVarID:625240 InheritancePattern:AutosomalDominant RefSeq:AF010238.1 CivicName:F119L(c.357C>G) cDNAposition:357 ProteinPosition:119 AminoAcidChange:PHEtoLEU MutationType:missense_variant;transversion Mutation:Germline inferred_gene_hgnc:5542 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1002/humu.1380050109
  3. www.nejm.org www.nejm.org
    Germ-Line Mutations in Nonsyndromic Pheochromocytoma | NEJM
    1
    1. ClingenBaseline 26 Oct 2026

      PatientID: N/A

      KindredID: 10

      Case: Sex, Age, Ethnicity Unknown

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: Nonsyndromic pheochromocytoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, SDHB, SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.F119L (c.357C>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.F119L (c.570C>G)

      ClinVarID: 625240 https://www.ncbi.nlm.nih.gov/clinvar/variation/625240/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: F119L (c.357C>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:pheochromocytoma Mutation:Germline AssumedRefSeq:AF010238.1 CivicName:F119L(c.357C>G) cDNAposition:357 ProteinPosition:119 AminoAcidChange:PHEtoLEU MutationType:missense_variant;transversion ClinVarID:625240 ClinVarID:Yes NoFamilyInfo PreviousTesting:RET/SDHB/SDHD InheritancePattern:AutosomalDominant inferred_gene_hgnc:5542 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    nejm.org/doi/10.1056/NEJMoa020152
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Clinical and genetic characterization of pheochromocytoma in von Hippel-Lindau families: comparison with sporadic pheochromocytoma gives insight into natural history of pheochromocytoma
    1
    1. ClingenBaseline 26 Oct 2026

      GroupID: 4577

      DiseaseAssertion: VHL

      GroupSize: 3

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Each group represents a family.

      GroupPresentingHPOs: HP:0009711; HP:0010797; HP:0002666; HP:0005584 (Retinal capillary hemangioma, Hemangioblastoma, Pheochromocytoma, Renal cell carcinoma)

      GroupHPOFreeText: 2/3 members with pheochromocytoma, 1/3 members with CNS hemangioblastoma, 1/3 members with retinal angioma and 1/3 members with RCC. Diagnosed as a VHL Type 2B family.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.F119L (c.357C>G)

      LegacyVariant: c.570C>G

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625240, https://www.ncbi.nlm.nih.gov/clinvar/variation/625240/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Variant reported as 570, C to G (Phe to Leu), assumed to be reported in legacy nomenclature (AF010238.1) and mapped to c.357C>G, p.Phe119Leu (NM_000551.3).

      MutationType: missense_variant;transversion

      CivicName: F119L (c.357C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:357 ProteinPosition:119 AminoAcidChange:PHEtoLEU ClinVarID:625240 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:F119L(c.357C>G) Familial FamilyCohort inferred_gene_hgnc:5542 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10458336/
  5. erc.bioscientifica.com erc.bioscientifica.com
    Systematic comparison of sporadic and syndromic pancreatic islet cell tumors
    2
    1. ClingenBaseline 24 Oct 2026
      c.357 C>Gap.F119L

      GroupID: 10B

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

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: 2 patients with the given mutation were grouped as group 10(B) in this study. These patients were asymptomatic or unclear of symptoms.

      GroupPresentingHPOs: N/A

      GroupHPOFreeText: N/A

      GroupNotHPOs: HP:0030405 (pancreatic endocrine tumor)

      GroupNotHPOFreeText: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.F119L (c.357C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625240 https://www.ncbi.nlm.nih.gov/clinvar/variation/625240/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: F119L (c.357C>G)

      MultipleGeneVariants: N/A

      RefSeq:NM_000551.2 Mutation:Germline cDNAposition:357 ProteinPosition:119 AminoAcidChange:PHEtoLEU CivicName:F119L(c.357C>G) MutationType:missense_variant;transversion ClinVarID:625240 ClinVarID:Yes NoFamilyInfo inferred_gene_hgnc:5542 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 23 Oct 2026
      c.357 C>Gap.F119L

      GroupID: 10A

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: 2 VHL patients with the given VHL mutation and manifestation were grouped in this study.

      GroupPresentingHPOs: HP:0030405 (pancreatic endocrine tumor)

      GroupHPOFreeText: Patients have islet cell tumors (ICTs), or listed as pancreatic endocrine tumor. Other clinical manifestations outside of a pancreatic neuroendocrine tumor are possible, but were not discussed.

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.F119L (c.357C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625240 https://www.ncbi.nlm.nih.gov/clinvar/variation/625240/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: F119L (c.357C>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor RefSeq:NM_000551.2 Mutation:Germline NoFamilyInfo ClinVarID:625240 ClinVarID:Yes cDNAposition:357 CivicName:F119L(c.357C>G) AminoAcidChange:PHEtoLEU MutationType:missense_variant;transversion ProteinPosition:119 inferred_gene_hgnc:5542 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    erc.bioscientifica.com/view/journals/erc/17/4/875.xml