4 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Analytical Performance of NGS-Based Molecular Genetic Tests Used in the Diagnostic Workflow of Pheochromocytoma/Paraganglioma
    1
    1. ClingenBaseline 04 Nov 2026
      14EP 1.0VVHLVHL({"type":"entrez-nucleotide","attrs":{"text":"NM_000551.4","term_id":"1779521775","term_text":"NM_000551.4"}}NM_000551.4):c.407T>G (p. Phe136Cys)

      PatientID: 14

      KindredID: 1

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Unclear the exact manifestations; only stated VHL

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: MAX, NF1, RET, SDHA, SDHB, SDHC, SDHD, TMEM127

      PreviouslyPublished: N/A

      SupplementalData: Yes

      Variant: p.F136C (c.407T>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 496065 https://www.ncbi.nlm.nih.gov/clinvar/variation/496065/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Described by authors as likely pathogenic.

      MutationType: missense_variant;transversion

      CivicName: F136C (c.407T>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:VHL RefSeq:NM_000551.4 cDNAposition:407 CivicName:F136C(c.407T>G) AminoAcidChange:PHEtoCYS ProteinPosition:136 MutationType:missense_variant;transversion ClinVarID:496065 ClinVarID:Yes NoFamilyInfo SupplementalData PreviousTesting:MAX/RET//NF1/SDHA/SDHB/SDHC/SDHD/TMEM127 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC8392134/
  3. www.nejm.org www.nejm.org
    Germ-Line Mutations in Nonsyndromic Pheochromocytoma | NEJM
    1
    1. ClingenBaseline 30 Oct 2026

      PatientID: N/A

      KindredID: 12

      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.F136C (c.407T>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.F136C (c.620T>G)

      ClinVarID: 496065 https://www.ncbi.nlm.nih.gov/clinvar/variation/496065/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: F136C (c.407T>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:pheochromocytoma Mutation:Germline AssumedRefSeq:AF010238.1 CivicName:F136C(c.407T>G) cDNAposition:407 ProteinPosition:136 AminoAcidChange:PHEtoCYS MutationType:missense_variant;transversion ClinVarID:496065 ClinVarID:Yes PreviousTesting:RET/SDHB/SDHD NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    nejm.org/doi/10.1056/NEJMoa020152
  4. Oct 2026
  5. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Identification and In Silico Analysis of Novel von Hippel-Lindau (VHL) Gene Variants from a Large Population
    1
    1. ClingenBaseline 29 Oct 2026

      PatientID: 280

      KindredID: 280

      Case: Sex Unknown, 25Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797; HP:0001732 (Hemangioblastoma, Abnormality of the pancreas)

      CaseHPOFreeText: CNS hemangioblastoma and pancreatic cyst or tumor.

      CaseNotHPOs: HP:0009711; HP:0006770; HP:0002666; HP:0000107 (Retinal capillary hemangioma, Clear cell renal cell carcinoma, Pheochromocytoma, Renal cyst)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table S1, S2 and S3

      Variant: p.P76del (c.227_229del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA357012, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.227_229del

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: deletion; inframe_deletion

      CivicName: P76del (c.227_229del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:abnormalityofthepancreas Mutation:Germline RefSeq:NM_000551.3 cDNAposition:227 ProteinPosition:76 AminoAcidChange:PHEtoCYS ClinVarID:N/A CAID:CA357012 MutationType:inframe_deletion MutationType:deletion CivicName:P76del(c.227_229del) NoFamilyInfo SupplementalData ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/21463266/
  6. 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 25 Oct 2026
      variants of VHL in 18 probands

      PatientID: 9

      KindredID: 8

      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.TF136C (c.407G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 496065, https://www.ncbi.nlm.nih.gov/clinvar/variation/496065/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant, transversion

      CivicName: F136C (c.407T>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transversion RefSeq:NM_000551.3 DiseaseEntity:paraganglioma DiseaseEntity:pheochromocytoma cDNAPosition:407 ProteinPosition:136 AminoAcidChange:PHEtoCYS ClinVarID:Yes ClinVarID:496065 NoFamilyInfo CivicName:F136C(c.407T>G) inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC8394264/