11 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas
    2
    1. ClingenBaseline 05 Nov 2026

      PatientID: None

      KindredID: S-FPH1

      Case: Sex Unknown, Age Unknown, Korean

      DiseaseAssertion: VHL

      FamilyInfo: 2 affected individuals in this family. Pheochromocytoma is noted as familial.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: Family diagnosed with VHL type 2C.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V84L (c.250G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2236, https://www.ncbi.nlm.nih.gov/clinvar/variation/2236/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: V84L (c.250G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Korean DiseaseEntity:VHL DiseaseEntity:pheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:250 ProteinPosition:84 AminoAcidChange:VALtoLEU ClinVarID:2236 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:V84L(c.250G>T) Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 30 Oct 2026

      PatientID: S-FPH1

      KindredID: S-FPH1

      Case: F, 60Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: 2 affected individuals in this family. Pheochromocytoma is noted as familial.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: Bilateral pheochromocytoma. Diagnosed with VHL type 2C.

      CaseNotHPOs: HP:0005584; HP:0010797 (Renal cell carcinoma, Hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 25078357

      SupplementalData: N/A

      Variant: p.V84L (c.250G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2236, https://www.ncbi.nlm.nih.gov/clinvar/variation/2236/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: V84L (c.250G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Korean DiseaseEntity:VHL DiseaseEntity:pheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:250 ProteinPosition:84 AminoAcidChange:VALtoLEU ClinVarID:2236 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:V84L(c.250G>T) Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/16142346/
  3. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients
    2
    1. ClingenBaseline 05 Nov 2026
      35 (45%) had missense variants,

      PatientID: 39

      KindredID: 39

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0100634 (Neuroendocrine neoplasm)

      CaseHPOFreeText: patient had pheochromocytoma/paraganglioma (recorded here as a neuroendocrine neoplasm)

      CaseNotHPOs: HP:0010797; HP:0006770; HP:0030405; HP:0009711; HP:0030421 (hemangioblastoma; clear cell renal cell carcinoma; pancreatic neuroendocrine neoplasm, retinal capillary hemangioma, Epididymal neoplasm)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes; see table S1 for VHL subject genetic and manifestation information.

      Variant: p.V84L (c.250G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2236 https://www.ncbi.nlm.nih.gov/clinvar/variation/2236/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: V84L (c.250G>T)

      MultipleGeneVariants: N/A

      CivicName:V84L(c.250G>T) cDNAposition:250 ProteinPosition:84 AminoAcidChange:VALtoLEU MutationType:missense_variant;transversion ClinVarID:2236 ClinVarID:Yes DiseaseEntity:neuroendocrineneoplasm DiseaseEntity:VHL RefSeq:NM_000551.3 Mutation:Germline SupplementalData NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 31 Oct 2026
      35 (45%) had missense variants,

      PatientID: 26

      KindredID: 26

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797; HP:0030405; HP:0100634 (hemangioblastoma, pancreatic neuroendocrine neoplasm, Neuroendocrine neoplasm)

      CaseHPOFreeText: patient had CNS hemangioblastoma, pancreatic neuroendocrine neoplasm and pheochromocytoma/paraganglioma (recorded here as a neuroendocrine neoplasm)

      CaseNotHPOs: HP:0006770; HP:0009711; HP:0030421 (clear cell renal cell carcinoma, retinal capillary hemangioma, Epididymal neoplasm)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes; see table S1 for VHL subject genetic and manifestation information.

      Variant: p.V84L (c.250G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2236 https://www.ncbi.nlm.nih.gov/clinvar/variation/2236/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: V84L (c.250G>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:neuroendocrineneoplasm DiseaseEntity:pancreaticendocrinetumor CivicName:V84L(c.250G>T) cDNAposition:250 ProteinPosition:84 AminoAcidChange:VALtoLEU MutationType:missense_variant;transversion ClinVarID:2236 ClinVarID:Yes NoFamilyInfo Mutation:Germline SupplementalData RefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1111/cge.13613
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.
    2
    1. ClingenBaseline 31 Oct 2026
      V155L

      PatientID: None

      KindredID: A

      Case: Gender Unknown, Age Unknown, Welsh

      DiseaseAssertion: Asymptomatic

      FamilyInfo: The patient had two sons and a daughter; of these three children, one son carried the mutation and presented with bilateral pheochromocytoma at 11Y, and one daughter carried the mutation and presented with bilateral pheochromocytoma at 17Y.

      CasePresentingHPOs: Asymptomatic

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V84L(c.250G>T)

      LegacyVariant: p.V155L(c.463G>T)

      CaseProblemVariantFreeText: bandshift in exon 1 and genomic sequencing indicated a G>T transversion at nucleotide 463, substituting a valine for leucine at codon 155 (V155L). Leading to NM_000551.3:p.V84L(c.250G>T)

      ClinVarID: 2236, http://www.ncbi.nlm.nih.gov/clinvar/variation/2236

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: V84L(c.250G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Welsh DiseaseEntity:asymptomatic Mutation:Germline RefSeq:N/A AssumedRefSeq:AF010238.1 cDNAposition:250 ProteinPosition:84 AminoAcidChange:VALtoLEU ClinVarID:Yes ClinVarID:2236 MutationType:missense_variant;transversion CivicName:V84L(c.250G>T) PreviousTesting:RET FamilyPedigree Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 30 Oct 2026
      V155L

      PatientID: None

      KindredID: A

      Case: F, 17Y0M, Welsh

      DiseaseAssertion: Pheochromocytoma

      FamilyInfo: The patient had a brother that presented with bilateral pheochromocytoma at 11Y. The patient also had an asymptomatic parent.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: The patient presented with bilateral pheochromocytoma at 17Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V84L(c.250G>T)

      LegacyVariant: p.V155L(c.463G>T)

      CaseProblemVariantFreeText: bandshift in exon 1 and genomic sequencing indicated a G>T transversion at nucleotide 463, substituting a valine for leucine at codon 155 (V155L). Leading to NM_000551.3:p.V84L(c.250G>T)

      ClinVarID: 2236, http://www.ncbi.nlm.nih.gov/clinvar/variation/2236

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: V84L(c.250G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Welsh DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:17 Mutation:Germline RefSeq:N/A AssumedRefSeq:AF010238.1 cDNAposition:250 ProteinPosition:84 AminoAcidChange:VALtoLEU ClinVarID:Yes ClinVarID:2236 MutationType:missense_variant;transversion CivicName:V84L(c.250G>T) PreviousTesting:RET FamilyPedigree Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC1051741/
  5. www-sciencedirect-com.uhn.idm.oclc.org www-sciencedirect-com.uhn.idm.oclc.org
    Denaturing High Performance Liquid Chromatography Detection of SDHB, SDHD, and VHL Germline Mutations in Pheochromocytoma
    1
    1. ClingenBaseline 31 Oct 2026
      c.250G > T(p.Val84Leu)

      PatientID: None

      KindredID: 2

      Case: age, sex, ethnicity unknown

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V84L (c.250G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2236 https://www.ncbi.nlm.nih.gov/clinvar/variation/2236/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence:N/A

      MutationType: missense_variant; transversion

      CivicName: V84L (c.250G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:pheochromocytoma Mutation:Germline RefSeq:NM_000551.3 CivicName:V84L(c.250G>T) AminoAcidChange:VALtoLEU ProteinPosition:84 cDNAposition:250 MutationType:missense_variant;transversion ClinVarID:2236 ClinVarID:Yes NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    www-sciencedirect-com.uhn.idm.oclc.org/science/article/pii/S0022480408005271
  6. Oct 2026
  7. www-sciencedirect-com.uhn.idm.oclc.org www-sciencedirect-com.uhn.idm.oclc.org
    Denaturing High Performance Liquid Chromatography Detection of SDHB, SDHD, and VHL Germline Mutations in Pheochromocytoma
    1
    1. ClingenBaseline 29 Oct 2026
      c.250G > T(p.Val84Leu)

      PatientID: None

      KindredID: 1

      Case: age, sex, ethnicity unknown

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V84L (c.250G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2236 https://www.ncbi.nlm.nih.gov/clinvar/variation/2236/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence:N/A

      MutationType: missense_variant; transversion

      CivicName: V84L (c.250G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.3 DiseaseEntity:pheochromocytoma ClinVarID:2236 ProteinPosition:84 cDNAposition:250 AminoAcidChange:VALtoLEU CivicName:V84L(c.250G>T) MutationType:missense_variant;transversion ClinVarID:Yes NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    www-sciencedirect-com.uhn.idm.oclc.org/science/article/pii/S0022480408005271
  8. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.
    1
    1. ClingenBaseline 29 Oct 2026
      V155L

      PatientID: None

      KindredID: A

      Case: M, 11Y0M, Welsh

      DiseaseAssertion: Pheochromocytoma

      FamilyInfo: The patient had a sister that presented with bilateral pheochromocytoma at 17Y. The patient also had an asymptomatic parent.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: The patient presented with bilateral pheochromocytoma at 11Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V84L(c.250G>T)

      LegacyVariant: p.V155L(c.463G>T)

      CaseProblemVariantFreeText: bandshift in exon 1 and genomic sequencing indicated a G>T transversion at nucleotide 463, substituting a valine for leucine at codon 155 (V155L). Leading to NM_000551.3:p.V84L(c.250G>T)

      ClinVarID: 2236, http://www.ncbi.nlm.nih.gov/clinvar/variation/2236

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: V84L(c.250G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Welsh DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:11 Mutation:Germline RefSeq:N/A AssumedRefSeq:AF010238.1 cDNAposition:250 ProteinPosition:84 AminoAcidChange:VALtoLEU ClinVarID:Yes ClinVarID:2236 MutationType:missense_variant;transversion CivicName:V84L(c.250G>T) PreviousTesting:RET FamilyPedigree Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC1051741/
  9. pubmed-ncbi-nlm-nih-gov.proxy1.lib.uwo.ca pubmed-ncbi-nlm-nih-gov.proxy1.lib.uwo.ca
    Efficacy of gene testing for von Hippel-Lindau disease
    1
    1. ClingenBaseline 28 Oct 2026

      PatientID: 2

      KindredID: 2

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Positive.

      CohortInfo: Between September 1994 and December 1997, 16 unrelated individuals were referred to Genetic Services of Western Australia by local clinicians and by similar genetic services in other States, for VHL gene mutation analysis because of clinical manifestations suggestive of the diagnosis.

      CasePresentingHPOs: HP:0002666, HP:0009711, HP:0010797 (pheochromocytoma, retinal capillary hemangioma, hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0005584, HP:0001737 (renal cell carcinoma, pancreatic cysts)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V84L (c.250G>T)

      LegacyVariant: p.V84L (c.463G>T)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2236 https://www.ncbi.nlm.nih.gov/clinvar/variation/2236/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: V84L (c.250G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:AF010238.1 DiseaseEntity:VHL Familial DiseaseEntity:pheochromocytoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma cDNAposition:250 ProteinPosition:84 AminoAcidChange:VALtoLEU ClinVarID:2236 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:V84L(c.250G>T) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed-ncbi-nlm-nih-gov.proxy1.lib.uwo.ca/9830390/
  10. erc.bioscientifica.com erc.bioscientifica.com
    Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways
    1
    1. ClingenBaseline 22 Oct 2026
      VHL_2Frozenc.250G>Tp.Val84LeuM25AdrenalPCCB

      PatientID: VHL_2 (tumor ID)

      KindredID: 2

      Case: M, 25Y0M, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: The patient had a benign adrenal pheochromocytoma at 25Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V84L (c.250G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2236, https://www.ncbi.nlm.nih.gov/clinvar/variation/2236/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: V84L (c.250G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:25 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:250 ProteinPosition:84 AminoAcidChange:VALtoLEU ClinVarID:2236 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:V84L(c.250G>T) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    erc.bioscientifica.com/view/journals/erc/20/4/477.xml