7 Matching Annotations
  1. Last 7 days
  2. academic.oup.com academic.oup.com
    Differential Genetic Alterations in von Hippel-Lindau Syndrome-Associated and Sporadic Pheochromocytomas
    3
    1. ClingenBaseline 04 Nov 2026

      PatientID: 13 (tumour 21)

      KindredID: 14

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: Patient had one benign pheochromocytoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET

      PreviouslyPublished: 7759077, 9681856

      SupplementalData: N/A

      Variant: p.Y98H (c.292T>C)

      LegacyVariant: p.Y98H (c.505T>C)

      CaseProblemVariantFreeText: N/A

      ClinVar: 2223 https://www.ncbi.nlm.nih.gov/clinvar/variation/2223/

      CAID: CA020246 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.292T%3EC

      gnomAD: 0.00001343 https://gnomad.broadinstitute.org/variant/3-10183823-T-C

      VariantEvidence: Refer to Table 1 for LOH information.

      MutationType: missense_variant;transition

      CivicName: Y98H (c.292T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:pheochromocytoma DiseaseEntity:VHL AssumedRefSeq:AF010238.1 CivicName:Y98H(c.292T>C) cDNAposition:292 ProteinPosition:98 AminoAcidChange:TYRtoHIS ClinVarID:2223 CAID:CA020246 NoFamilyInfo PreviousTesting:RET MutationType:missense_variant;transition Mutation:Germline ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 03 Nov 2026

      PatientID: 9 (tumour 13)

      KindredID: 10

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: Patient had one malignant pheochromocytoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET

      PreviouslyPublished: 7759077, 9681856

      SupplementalData: N/A

      Variant: p.Y98H (c.292T>C)

      LegacyVariant: p.Y98H (c.505T>C)

      CaseProblemVariantFreeText: N/A

      ClinVar: 2223 https://www.ncbi.nlm.nih.gov/clinvar/variation/2223/

      CAID: CA020246 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.292T%3EC

      gnomAD: 0.00001343 https://gnomad.broadinstitute.org/variant/3-10183823-T-C

      VariantEvidence: Refer to Table 1 for LOH information.

      MutationType: missense_variant;transition

      CivicName: Y98H (c.292T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AssumedRefSeq:AF010238.1 ProteinPosition:98 CivicName:Y98H(c.292T>C) cDNAposition:292 AminoAcidChange:TYRtoHIS PreviousTesting:RET NoFamilyInfo ClinVarID:2223 CAID:CA020246 MutationType:missense_variant;transition Mutation:Germline ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    3. ClingenBaseline 01 Nov 2026

      PatientID: 3 (tumour 3)

      KindredID: 3

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: Patient had one benign pheochromocytoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET

      PreviouslyPublished: 7759077, 9681856

      SupplementalData: N/A

      Variant: p.Y98H (c.292T>C)

      LegacyVariant: p.Y98H (c.505T>C)

      CaseProblemVariantFreeText: N/A

      ClinVar: 2223 https://www.ncbi.nlm.nih.gov/clinvar/variation/2223/

      CAID: CA020246 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.292T%3EC

      gnomAD: 0.00001343 https://gnomad.broadinstitute.org/variant/3-10183823-T-C

      VariantEvidence: Refer to Table 1 for LOH information.

      MutationType: missense_variant;transition

      CivicName: Y98H (c.292T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma PreviousTesting:RET AssumedRefSeq:AF010238.1 Mutation:Germline MutationType:missense_variant;transition ProteinPosition:98 AminoAcidChange:TYRtoHIS CivicName:Y98H(c.292T>C) cDNAposition:292 NoFamilyInfo ClinVarID:2223 CAID:CA020246 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    academic.oup.com/jcem/article/85/12/4568/2853213
  3. Oct 2026
  4. academic.oup.com academic.oup.com
    Differential Genetic Alterations in von Hippel-Lindau Syndrome-Associated and Sporadic Pheochromocytomas
    2
    1. ClingenBaseline 28 Oct 2026

      PatientID: 12 (tumour 20)

      KindredID: 13

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: Patient had one benign pheochromocytoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET

      PreviouslyPublished: 7759077, 9681856

      SupplementalData: N/A

      Variant: p.Y98H (c.292T>C)

      LegacyVariant: p.Y98H (c.505T>C)

      CaseProblemVariantFreeText: N/A

      ClinVar: 2223 https://www.ncbi.nlm.nih.gov/clinvar/variation/2223/

      CAID: CA020246 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.292T%3EC

      gnomAD: 0.00001343 https://gnomad.broadinstitute.org/variant/3-10183823-T-C

      VariantEvidence: Refer to Table 1 for LOH information.

      MutationType: missense_variant;transition

      CivicName: Y98H (c.292T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AssumedRefSeq:AF010238.1 Mutation:Germline MutationType:missense_variant;transition CAID:CA020246 ClinVarID:2223 NoFamilyInfo PreviousTesting:RET ProteinPosition:98 CivicName:Y98H(c.292T>C) cDNAposition:292 AminoAcidChange:TYRtoHIS ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026

      PatientID: 6 (tumour 8)

      KindredID: 7

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: Patient had one benign pheochromocytoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET

      PreviouslyPublished: 7759077, 9681856

      SupplementalData: N/A

      Variant: p.Y98H (c.292T>C)

      LegacyVariant: p.Y98H (c.505T>C)

      CaseProblemVariantFreeText: N/A

      ClinVar: 2223 https://www.ncbi.nlm.nih.gov/clinvar/variation/2223/

      CAID: CA020246 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.292T%3EC

      gnomAD: 0.00001343 https://gnomad.broadinstitute.org/variant/3-10183823-T-C

      VariantEvidence: Refer to Table 1 for LOH information.

      MutationType: missense_variant;transition

      CivicName: Y98H (c.292T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:AF010238.1 NoFamilyInfo PreviousTesting:RET ClinVarID:2223 CAID:CA020246 AminoAcidChange:TYRtoHIS ProteinPosition:98 CivicName:Y98H(c.292T>C) cDNAposition:292 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    academic.oup.com/jcem/article/85/12/4568/2853213
  5. erc.bioscientifica.com erc.bioscientifica.com
    Systematic comparison of sporadic and syndromic pancreatic islet cell tumors
    1
    1. ClingenBaseline 24 Oct 2026
      c.292 T>Cap.Y98H

      GroupID: 7A

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: 2 VHL patients with the given VHL mutation were grouped in this study.

      GroupPresentingHPOs: HP:0030405 (pancreatic endocrine tumor)

      GroupHPOFreeText: Patients have islet cell tumors (ICTs), or listed as pancreatic endocrine tumor. Other clinical manifestations outside of a pancreatic neuroendocrine tumor are possible, but were not discussed.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: 7987306

      SupplementalData: N/A

      Variant: p.Y98H (c.292T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2223 https://www.ncbi.nlm.nih.gov/clinvar/variation/2223/

      CAID: N/A

      gnomAD: 0.00001343 https://gnomad.broadinstitute.org/variant/3-10183823-T-C

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: Y98H (c.292T>C)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor Mutation:Germline RefSeq:NM_000551.2 cDNAposition:292 ProteinPosition:98 AminoAcidChange:TYRtoHIS CivicName:Y98H(c.292T>C) MutationType:missense_variant;transition CAID:CA020246 ClinVarID:2223 NoFamilyInfo InheritancePattern:AutosomalDominant ClinVarID:Yes PreviouslyPublished inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    erc.bioscientifica.com/view/journals/erc/17/4/875.xml
  6. link.springer.com link.springer.com
    Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe
    1
    1. ClingenBaseline 21 Oct 2026

      GroupID/ KindredID: VHL54

      Case: Sex unknown, Age unknown, German

      DiseaseAssertion: assumed VHL

      FamilyInfo: One patient with the given mutation is stated to belong to VHL family 54

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

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 7759077

      SupplementalData: N/A

      Variant: p.Y98H (c.292T>C)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.Y98H (c.505T>C)

      ClinVarID: 2223 https://www.ncbi.nlm.nih.gov/clinvar/variation/2223/

      CAID: CA020246 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.292T%3EC

      gnomAD: 0.00001343 https://gnomad.broadinstitute.org/variant/3-10183823-T-C

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: Y98H (c.292T>C)

      MultipleGeneVariants: N/A

      Ethnicity:German Mutation:Germline DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:retinalcapillaryhemangioma RefSeq:AF010238.1 MutationType:missense_variant;transition Familial CivicName:Y98H(c.292T>C) cDNAposition:292 ProteinPosition:98 AminoAcidChange:TYRtoHIS ClinVarID:2223 CAID:CA020246 ClinVarID:Yes InheritancePattern:AutosomalDominant inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s004390050206