3 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations
    1
    1. ClingenBaseline 04 Nov 2026
      261913Y13Y47NYNNYc.371C>TExon 2p.Thr124IleMissense

      PatientID: 26

      KindredID: 19

      Case: M, 47Y0M, Brazilian (Latino/Admixed American)

      DiseaseAssertion: VHL

      FamilyInfo: They had a 14Y family member (ID:27), however their relation is unclear.

      CasePresentingHPOs: HP:0002666; HP:0030405; HP:0009711; HP:0000107 (pheochromocytoma, pancreatic endocrine tumor, retinal capillary hemangioma, renal cyst)

      CaseHPOFreeText: The patient at 13Y was confirmed with VHL. He developed bilateral pheo at 13Y, which had recurrence at 48M later. He later at 47Y he developed a PNET. He also had renal cysts and retinal HB

      CaseNotHPOs: HP:0002668; HP:0001737; HP:0010797; HP:0005584 (paraganglioma, pancreatic cyst, hemangioblastoma, renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.T124I (c.371C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 36902 https://www.ncbi.nlm.nih.gov/clinvar/variation/36902/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: T124I (c.371C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:pheochromocytoma DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcyst AgeOfPresentation:pheochromocytoma:13 AgeOfPresentation:pancreaticendocrinetumor:47 ClinVarID:36902 ClinVarID:Yes Ethnicity:Brazilian Ethnicity:Latino/AdmixedAmerican ProteinPosition:124 cDNAposition:371 CivicName:T124I(c.371C>T) AminoAcidChange:THRtoILE MutationType:missense_variant;transition Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6735756/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma
    1
    1. ClingenBaseline 02 Nov 2026
      variants of VHL in 18 probands

      PatientID: 7

      KindredID: 7

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: No family information provided.

      CasePresentingHPOs: HP:0002666; HP:0002668 (Pheochromocytoma; paraganglioma)

      CaseHPOFreeText: Patient had pheochromocytoma and/or paraganglioma (table 2).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.T124I (c.371C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 36902, https://www.ncbi.nlm.nih.gov/clinvar/variation/36902/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant, transition

      CivicName: T124I (c.371C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition RefSeq:NM_000551.3 DiseaseEntity:paraganglioma DiseaseEntity:pheochromocytoma CivicName:T124I(c.371C>T) cDNAPosition:371 ProteinPosition:124 AminoAcidChange:THRtoILE ClinVarID:Yes ClinVarID:36902 NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC8394264/
  4. Oct 2026
  5. academic.oup.com academic.oup.com
    VHL mutation analysis in patients with isolated central nervous system haemangioblastoma
    1
    1. ClingenBaseline 21 Oct 2026
      B1 Spinal 28 c.582_589delGACACAC N/A 5 y 10 m 

      PatientID: B1

      KindredID: 1

      Case: Sex Unknown, 28Y0M, Ethnicity Unknown

      DiseaseAssertion: Assumed VHL

      FamilyInfo: No testing

      CasePresentingHPOs: HP:0009713, HP:0000107, HP:0001737 (spinal hemangioblastoma, renal cyst, pancreatic cyst)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: no other clinical features were found after the cerebellar hemangioblastoma during 5 years 10 months of follow-up

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.T124Mfs*33 (c.369_375del)

      LegacyVariant: c.582_589delGACACAC

      ClinVarID: N/A

      CAID: CA913189240 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.369_375del

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: T124Mfs*33(c.369_375del)

      MultipleGeneVariants: N/A

      MutationType:minus_1_frameshift_variant InheritancePattern:AutosomalDominant DiseaseEntity:spinalhemangioblastoma DiseaseEntity:VHL DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts AgeOfPresentation:spinalhemangioblastoma:28 AgeOfPresentation:renalcyst:32 AgeOfPresentation:pancreaticcyst:32 Mutation:Germline RefSeq:AF010238.1 cDNAposition:369 ProteinPosition:124 AminoAcidChange:THRtoMET ClinVarID:N/A CAID:CA913189240 CivicName:T124Mfs*33(c.369_375del) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    academic.oup.com/brain/article/130/3/836/278946