11 Matching Annotations
  1. Last 7 days
  2. 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 03 Nov 2026
      VHL_17FFPEc.523T>Ap.Tyr175AsnM12AdrenalPCCB

      PatientID: VHL_17 (tumor ID)

      KindredID: 17

      Case: M, 12Y0M, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: The patient had a benign adrenal pheochromocytoma at 12Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y175N (c.523T>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351756226, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.523T%3EA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: Y175N (c.523T>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:12 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:523 ProteinPosition:175 AminoAcidChange:TYRtoASN ClinVarID:N/A CAID:CA351756226 MutationType:missense_variant;transversion CivicName:Y175N(c.523T>A) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    erc.bioscientifica.com/view/journals/erc/20/4/477.xml
  3. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genetic characterization and structural analysis of VHL Spanish families to define genotype–phenotype correlations
    1
    1. ClingenBaseline 02 Nov 2026

      GroupID/ KindredID: F15

      Case: Sex unknown, 32Y0M, Spanish

      DiseaseAssertion: assumed VHL

      FamilyInfo: Noted of familial antecedents of phaeochromocytoma.

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: Unilateral pheo. Age of onset is 32Y0M.

      CaseNotHPOs: HP:0006770; HP:0000107; HP:0006880; HP:0001737; HP:0009711 (clear cell renal cell carcinoma, renal cysts, cerebellar hemangioblastoma, pancreatic cysts, retinal capillary hemangioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y175C (c.524A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 36905 https://www.ncbi.nlm.nih.gov/clinvar/variation/36905/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: Y175C (c.524A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline Ethnicity:Spanish DiseaseEntity:pheochromocytoma RefSeq:AF010238.1 cDNAposition:524 ProteinPosition:175 AminoAcidChange:TYRtoCYS CivicName:Y175C(c.524A>G) MutationType:missense_variant;transition ClinVarID:36905 ClinVarID:Yes Familial ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.10309
  4. academic.oup.com academic.oup.com
    Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma
    1
    1. ClingenBaseline 02 Nov 2026

      PatientID: None

      KindredID: 51

      Case: M, 41Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: A total of 190 patients recruited by the COMETE network over 15 years were included in the study.

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: The patient had one benign pheochromocytoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, SDHB, SDHC, SDHD

      PreviouslyPublished: N/A

      SupplementalData: Patient information was extracted from Table 1 of Supplementary.

      Variant: p.Y175* (c.525C>G)

      CaseProblemVariantFreeText: The protein change was written as Thr175 in the Supplemental but the nucleotide change corresponds to Tyr175.

      LegacyVariant: N/A

      ClinVarID: 182974 https://www.ncbi.nlm.nih.gov/clinvar/variation/182974/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Y175* (c.525C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:41 DiseaseEntity:VHL NoFamilyInfo PreviousTesting:RET/SDHB/SDHD/SDHC SupplementalData ClinVarID:182974 ClinVarID:Yes MutationType:stop_gained cDNAposition:525 ProteinPosition:175 AssumedRefSeq:NM_000551.3 AminoAcidChange:TYRtoTER CivicName:Y175*(c.525C>G) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    academic.oup.com/hmg/article/20/20/3974/696619
  5. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype–phenotype correlations in von Hippel-Lindau disease
    1
    1. ClingenBaseline 02 Nov 2026

      GroupID: 32

      DiseaseAssertion: assumed VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: 2 of the 573 patients discussed in this paper were found to have the following mutation belonging to 1 family. 

      GroupPresentingHPOs: HP:0006880; HP:0009711 (cerebellar hemangioblastoma; retinal capillary hemangioma)

      GroupHPOFreeText: 1 patient had retinal hemangiomas diagnosed at an unknown age and 1 had cerebellar HB diagnosed at 31Y

      GroupNotHPOs: HP:0002666; HP:0005584 (pheochromocytoma; renal cell carcinoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S1.

      Variant: p.Y175* (c.525delC) 

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA913185019 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.525del

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Y175* (c.525delC) 

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:cerebellarhemangioblastoma:31 ProteinPosition:175 cDNAposition:525 CivicName:Y175*(c.525delC) AminoAcidChange:TYRtoTER MutationType:stop_gained CAID:CA913185019 ClinVarID:N/A Mutation:Germline ExperimentalAssay SupplementalData InheritancePattern:AutosomalDominant Familial FamilyCohort RefSeq:NM_000551.2 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.20385
  6. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Characterization of endolymphatic sac tumors and von Hippel–Lindau disease in the International Endolymphatic Sac Tumor Registry
    2
    1. ClingenBaseline 31 Oct 2026
      1 France c.525C>G p.Tyr175*

      GroupID: 32

      Case: Sex, Age, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: Unknown. One registrant from France has this mutation of c.525C>G

      CasePresentingHPOs: HP:0030393 (Endolymphatic sac tumor)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y175* (c.525C>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 182974 https://www.ncbi.nlm.nih.gov/clinvar/variation/182974/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Y175* (c.525C>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:endolymphaticsactumor Mutation:Germline cDNAposition:525 ProteinPosition:175 RefSeq:NM_000551.3 AminoAcidChange:TYRtoTER ClinVarID:182974 CAID:CA020466 MutationType:stop_gained CivicName:Y175*(c.525C>G) ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 31 Oct 2026
      1 France c.525C>A p.Tyr175*

      GroupID: 31

      Case: Sex, Age, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: Unknown. One registrant from France has this mutation of c.500C>A

      CasePresentingHPOs: HP:0030393 (Endolymphatic sac tumor)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y175* (c.525C>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA351756231 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.525C%3EA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Y175* (c.525C>A)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:endolymphaticsactumor Mutation:Germline RefSeq:NM_000551.3 cDNAposition:525 ProteinPosition:175 AminoAcidChange:TYRtoTER CivicName:Y175*(c.525C>A) MutationType:stop_gained CAID:CA351756231 NoFamilyInfo ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/full/10.1002/hed.24067
  7. 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 30 Oct 2026
      1 15 c.525C>A p.Tyr175X x x Likely de novo Father and siblings -

      PatientID: 1

      KindredID: 1

      Case: Sex Unknown, 15Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Variant noted as likely de novo (i.e. “parents were unaffected even if one or both parents were not available (n/a) for genetic testing”). Father and siblings were analyzed but no details were provided. Based on likely de novo assertion, it’s assumed that father and siblings were negative for this mutation.

      CasePresentingHPOs: HP:0010797; HP:0000107 (Hemangioblastoma, Renal cyst)

      CaseHPOFreeText: CNS hemangioblastoma and renal cystic lesion.

      CaseNotHPOs: HP:0002666; HP:0006770; HP:0001732; HP:0009711 (Pheochromocytoma, Clear cell renal cell carcinoma, Abnormality of the pancreas, Retinal capillary hemangioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table S1, S2 and S3

      Variant: p.Y175* (c.525C>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 1298905, https://www.ncbi.nlm.nih.gov/clinvar/variation/1298905/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion; stop_gained

      CivicName: Y175* (c.525C>A)

      MultipleGeneVariants: N/A

      InheritancePattern:DeNovoAssertion DiseaseEntity:VHL DiseaseEntity:hemangioblastoma Mutation:Germline RefSeq:NM_000551.3 cDNAposition:525 ProteinPosition:175 AminoAcidChange:TYRtoTER ClinVarID:1298905 ClinVarID:Yes MutationType:missense_variant;transversion MutationType:stop_gained CivicName:Y175*(c.525C>A) NonFamilial SupplementalData DiseaseEntity:renalcyst inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/21463266/
  8. Oct 2026
  9. 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
    2
    1. ClingenBaseline 29 Oct 2026
      VHL_16FFPEc.524A>Gp.Tyr175CysFNAAdrenalPCCB

      PatientID: VHL_16 (tumor ID)

      KindredID: 16

      Case: F, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: The patient had a benign adrenal pheochromocytoma at an unknown age.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y175C (c.524A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 36905, https://www.ncbi.nlm.nih.gov/clinvar/variation/36905/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: Y175C (c.524A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:adrenalpheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:524 ProteinPosition:175 AminoAcidChange:TYRtoCYS ClinVarID:36905 ClinVarID:Yes MutationType:missense_variant;transition CivicName:Y175C(c.524A>G) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 25 Oct 2026
      VHL_15FFPEc.523T>Ap.Tyr175AsnFNAAdrenalPCCB

      PatientID: VHL_15 (tumor ID)

      KindredID: 15

      Case: F, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: The patient had a benign adrenal pheochromocytoma at an unknown age.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y175N (c.523T>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351756226, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.523T%3EA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: Y175N (c.523T>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:adrenalpheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:523 ProteinPosition:175 AminoAcidChange:TYRtoASN ClinVarID:N/A CAID:CA351756226 MutationType:missense_variant;transversion CivicName:Y175N(c.523T>A) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    erc.bioscientifica.com/view/journals/erc/20/4/477.xml
  10. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical and molecular characteristics of East Asian patients with von Hippel–Lindau syndrome
    1
    1. ClingenBaseline 23 Oct 2026
      nonsense mutation

      PatientID: 96

      KindredID: None

      Case: Age and Sex unknown, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: None

      CasePresentingHPOs: HP:0010797; HP:0001737; HP:0000107 (hemangioblastoma, pancreatic cysts, renal cyst)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0005584; HP:0009711; HP:0002666; HP:0030405; HP:0030393 (Renal cell carcinoma, Retinal capillary haemangioblastoma, Pheochromocytoma, Pancreatic endocrine tumour, Endolymphatic sac tumour)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes; See Suppl 1 (Supporting table)

      Variant: p.Y175* (c.525C>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 182974 https://www.ncbi.nlm.nih.gov/clinvar/variation/182974/

      CAID: CA020466 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.525C%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Y175* (c.525C>G)

      MultipleGeneVariants: N/A

      Ethnicity:Chinese DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts DiseaseEntity:renalcyst Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:Y175*(c.525C>G) cDNAposition:525 ProteinPosition:175 AminoAcidChange:TYRtoTER CAID:CA020466 ClinVarID:182974 MutationType:stop_gained SupplementalData ClinVarID:Yes NoFamilyInfo ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4986176/
  11. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genetic characterization and structural analysis of VHL Spanish families to define genotype–phenotype correlations
    1
    1. ClingenBaseline 22 Oct 2026

      GroupID/ KindredID: F11

      Case: Sex unknown, 32Y0M, Spanish

      DiseaseAssertion: assumed VHL

      FamilyInfo: familial antecedents found; unknown of any additional features to index case relatives

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

      CaseHPOFreeText: Multiple lesions were found with the patient’s retinal hemangioma. Bilateral pheo. Age of onset is 32Y0M.

      CaseNotHPOs: HP:0006770; HP:0000107; HP:0006880; HP:0001737 (clear cell renal cell carcinoma, renal cysts, cerebellar hemangioblastoma, pancreatic cysts)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y175N (c.523T>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351756226 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.523T%3EA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: Y175N (c.523T>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline Ethnicity:Spanish DiseaseEntity:pheochromocytoma DiseaseEntity:retinalcapillaryhemangioma RefSeq:AF010238.1 cDNAposition:523 MutationType:missense_variant;transversion ProteinPosition:175 AminoAcidChange:TYRtoASN CivicName:Y175N(c.523T>A) CAID:CA351756226 ClinVarID:N/A ExperimentalAssay Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.10309