6 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma
    2
    1. ClingenBaseline 21 Oct 2026
      7M–1c.233A > Gp.Asn78Ser11414––14, M14, B4

      PatientID: 7

      KindredID: 7

      Case: M, 14Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: None

      CohortInfo: Thirteen unrelated patients with germline VHL mutations who were diagnosed with VHL disease were evaluated.

      CasePresentingHPOs: HP:0010797, HP:0000107, HP:0009711, HP:0001737(hemangioblastoma, renal cyst, retinal capillary hemangioma, pancreatic cysts)

      CaseHPOFreeText: The patient was found to have a CNS hemangioblastoma, retinal capillary hemangioma, multiple pancreatic cysts and bilateral renal cysts at age 14. MRI of the brain showed a tiny well-enhanced nodule at the cervicomedullary junction with an adjacent prominent vascular structure.

      CaseNotHPOs: HP:0005584, HP:0002666 (renal cell carcinoma, pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N78S (c.233A>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 93326 https://www.ncbi.nlm.nih.gov/clinvar/variation/93326/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: N78S (c.233A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline Ethnicity:Korean DiseaseEntity:VHL AgeOfPresentation:hemangioblastoma:14 DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts AgeofPresentation:pancreaticcysts:14 DiseaseEntity:renalcyst AgeOfPresentation:renalcyst:14 DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:RetinalCapillaryHemangioma:14 CivicName:N78S(c.233A>G) cDNAposition:233 ProteinPosition:78 AminoAcidChange:ASNtoSER ClinVarID:93326 ClinVarID:Yes MutationType:missense_variant;transition NonFamilial AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:583 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      7M–1c.233A > Gp.Asn78Ser11414––14, M14, B4

      PatientID: 7

      KindredID: 7

      Case: M, 14Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: None

      CohortInfo: Thirteen unrelated patients with germline VHL mutations who were diagnosed with VHL disease were evaluated.

      CasePresentingHPOs: HP:0010797, HP:0000107, HP:0009711, HP:0001737(hemangioblastoma, renal cyst, retinal capillary hemangioma, pancreatic cysts)

      CaseHPOFreeText: The patient was found to have a CNS hemangioblastoma, retinal capillary hemangioma, multiple pancreatic cysts and bilateral renal cysts at age 14. MRI of the brain showed a tiny well-enhanced nodule at the cervicomedullary junction with an adjacent prominent vascular structure.

      CaseNotHPOs: HP:0005584, HP:0002666 (renal cell carcinoma, pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N78S (c.233A>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 93326 https://www.ncbi.nlm.nih.gov/clinvar/variation/93326/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: N78S (c.233A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline Ethnicity:Korean DiseaseEntity:VHL AgeOfPresentation:hemangioblastoma:14 DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts AgeofPresentation:pancreaticcysts:14 DiseaseEntity:renalcyst AgeOfPresentation:renalcyst:14 DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:RetinalCapillaryHemangioma:14 CivicName:N78S(c.233A>G) cDNAposition:233 ProteinPosition:78 AminoAcidChange:ASNtoSER ClinVarID:93326 ClinVarID:Yes MutationType:missense_variant;transition NonFamilial AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:583 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4955248/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma
    2
    1. ClingenBaseline 21 Oct 2026
      Proband's mother – 12

      PatientID: None

      KindredID: 1

      Case: F, 48Y0M, Ethnicity Unknown

      DiseaseAssertion: Assumed VHL

      FamilyInfo: The patient’s aunt presented with Hodgkin’s lymphoma at 38Y and was deceased at 40Y. The patient’s father presented with liver cancer at 72Y and was deceased at 74Y. Additionally, the patient’s deceased grandfather had an unspecified cancer. The patient’s son presented with unilateral pheochromocytoma at 13Y. The patient’s daughter presented with pheochromocytoma at 12Y, and bilateral retinal hemangioblastoma, right adrenal pheochromocytoma, and islet cell neuroendocrine carcinoma of the pancreas with nodal metastasis at 20Y, and was found to carry the mutation the patient carried.

      CasePresentingHPOs: HP:0002666; HP:0009711 (Pheochromocytoma, retinal hemangioblastoma)

      CaseHPOFreeText: The patient presented with bilateral pheochromocytoma at 12Y and retinal hemangioblastoma at 13Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.*214Lext*14(c.641G>T)

      LegacyVariant: N/A

      ClinVarID: 223236, http://www.ncbi.nlm.nih.gov/clinvar/variation/223236

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_loss

      CivicName: *214Lext*14(c.641G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:pheochromocytoma:12 AgeOfPresentation:retinalcapillaryhemangioma:13 Mutation:Germline RefSeq:N/A AssumedRefSeq:NM_000551.3 cDNAposition:641 ProteinPosition:214 AminoAcidChange:N/A ClinVarID:Yes ClinVarID:223236 MutationType:stop_loss CivicName:*214Lext*14(c.641G>T) FamilyPedigree Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      Proband's mother – 12

      PatientID: None

      KindredID: 1

      Case: F, 48Y0M, Ethnicity Unknown

      DiseaseAssertion: Assumed VHL

      FamilyInfo: The patient’s aunt presented with Hodgkin’s lymphoma at 38Y and was deceased at 40Y. The patient’s father presented with liver cancer at 72Y and was deceased at 74Y. Additionally, the patient’s deceased grandfather had an unspecified cancer. The patient’s son presented with unilateral pheochromocytoma at 13Y. The patient’s daughter presented with pheochromocytoma at 12Y, and bilateral retinal hemangioblastoma, right adrenal pheochromocytoma, and islet cell neuroendocrine carcinoma of the pancreas with nodal metastasis at 20Y, and was found to carry the mutation the patient carried.

      CasePresentingHPOs: HP:0002666; HP:0009711 (Pheochromocytoma, retinal hemangioblastoma)

      CaseHPOFreeText: The patient presented with bilateral pheochromocytoma at 12Y and retinal hemangioblastoma at 13Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.*214Lext*14(c.641G>T)

      LegacyVariant: N/A

      ClinVarID: 223236, http://www.ncbi.nlm.nih.gov/clinvar/variation/223236

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_loss

      CivicName: *214Lext*14(c.641G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:pheochromocytoma:12 AgeOfPresentation:retinalcapillaryhemangioma:13 Mutation:Germline RefSeq:N/A AssumedRefSeq:NM_000551.3 cDNAposition:641 ProteinPosition:214 AminoAcidChange:N/A ClinVarID:Yes ClinVarID:223236 MutationType:stop_loss CivicName:*214Lext*14(c.641G>T) FamilyPedigree Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC2958253/
  4. onlinelibrary-wiley-com.ezproxy.lib.ryerson.ca onlinelibrary-wiley-com.ezproxy.lib.ryerson.ca
    von Hippel-Lindau development in children and adolescents
    2
    1. ClingenBaseline 21 Oct 2026
      4 I 7 Dead at age 53 years 2 retinal hb (7 + 14 years) M c.407 T > C (p.Phe136Ser)

      PatientID: I

      KindredID: 4

      Case: Sex Unknown, 53Y0M, Danish

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0009711 (Retinal capillary hemangioma)

      CaseHPOFreeText: Diagnosed with VHL at age 7Y. Presented with retinal hemangioblastoma at 7Y and 14Y. Age of death: 53Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.F136S (c.407T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 496064, https://www.ncbi.nlm.nih.gov/clinvar/variation/496064/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: F136S (c.407T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Danish DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:retinalcapillaryhemangioma:7 AgeOfPresentation:retinalcapillaryhemangioma:14 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:407 ProteinPosition:136 AminoAcidChange:PHEtoSER ClinVarID:496064 ClinVarID:Yes MutationType:missense_variant;transition CivicName:F136S(c.407T>C) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      4 I 7 Dead at age 53 years 2 retinal hb (7 + 14 years) M c.407 T > C (p.Phe136Ser)

      PatientID: I

      KindredID: 4

      Case: Sex Unknown, 53Y0M, Danish

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0009711 (Retinal capillary hemangioma)

      CaseHPOFreeText: Diagnosed with VHL at age 7Y. Presented with retinal hemangioblastoma at 7Y and 14Y. Age of death: 53Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.F136S (c.407T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 496064, https://www.ncbi.nlm.nih.gov/clinvar/variation/496064/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: F136S (c.407T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Danish DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:retinalcapillaryhemangioma:7 AgeOfPresentation:retinalcapillaryhemangioma:14 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:407 ProteinPosition:136 AminoAcidChange:PHEtoSER ClinVarID:496064 ClinVarID:Yes MutationType:missense_variant;transition CivicName:F136S(c.407T>C) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    URL

    onlinelibrary-wiley-com.ezproxy.lib.ryerson.ca/doi/full/10.1002/ajmg.a.38324