9 Matching Annotations
  1. Last 7 days
  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients
    4
    1. ClingenBaseline 04 Nov 2026
      missense variants

      PatientID: 63

      KindredID: 63

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

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

      CaseHPOFreeText: N/A

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 29437867 (Family 7 - see here for more info)

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

      Variant: p.R107G (c.319C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 43599 https://www.ncbi.nlm.nih.gov/clinvar/variation/43599

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: R107G (c.319C>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:neuroendocrineneoplasm CivicName:R107G(c.319C>G) cDNAposition:319 ProteinPosition:107 AminoAcidChange:ARGtoGLY MutationType:missense_variant;transversion RefSeq:NM_000551.3 SupplementalData ClinVarID:Yes ClinVarID:43599 NoFamilyInfo Mutation:Germline inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 03 Nov 2026
      missense variants

      PatientID: 62

      KindredID: 62

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0100634 (Neuroendocrine neoplasm)

      CaseHPOFreeText: N/A

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 29437867 (Family 7 - see here for more info)

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

      Variant: p.R107G (c.319C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 43599 https://www.ncbi.nlm.nih.gov/clinvar/variation/43599

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: R107G (c.319C>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:neuroendocrineneoplasm ProteinPosition:107 cDNAposition:319 CivicName:R107G(c.319C>G) AminoAcidChange:ARGtoGLY MutationType:missense_variant;transversion ClinVarID:43599 ClinVarID:Yes NoFamilyInfo Mutation:Germline SupplementalData RefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    3. ClingenBaseline 02 Nov 2026
      missense variants

      PatientID: 61

      KindredID: 61

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797; HP:0030405; HP:0009711; HP:0030421 (hemangioblastoma; pancreatic neuroendocrine neoplasm, retinal capillary hemangioma; Epididymal neoplasm)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0100634; HP:0006770 (Neuroendocrine neoplasm, clear cell renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 29437867 (Family 7 - see here for more info)

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

      Variant: p.R107G (c.319C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 43599 https://www.ncbi.nlm.nih.gov/clinvar/variation/43599

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: R107G (c.319C>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:epididymalneoplasm CivicName:R107G(c.319C>G) cDNAposition:319 ProteinPosition:107 AminoAcidChange:ARGtoGLY MutationType:missense_variant;transversion ClinVarID:43599 ClinVarID:Yes NoFamilyInfo SupplementalData Mutation:Germline RefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    4. ClingenBaseline 31 Oct 2026
      missense variants

      PatientID: 60

      KindredID: 60

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0100634; HP:0030405; HP:0006770 (Neuroendocrine neoplasm, pancreatic neuroendocrine neoplasm, clear cell renal cell carcinoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0010797; HP:0009711; HP:0030421 (hemangioblastoma; retinal capillary hemangioma; Epididymal neoplasm)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 29437867 (Family 7 - see here for more info)

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

      Variant: p.R107G (c.319C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 43599 https://www.ncbi.nlm.nih.gov/clinvar/variation/43599

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: R107G (c.319C>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:neuroendocrineneoplasm DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:clearcellrenalcellcarcinoma CivicName:R107G(c.319C>G) cDNAposition:319 ProteinPosition:107 AminoAcidChange:ARGtoGLY MutationType:missense_variant;transversion ClinVarID:43599 ClinVarID:Yes NoFamilyInfo Mutation:Germline RefSeq:NM_000551.3 SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/full/10.1111/cge.13613
  3. jmg-bmj-com.uhn.idm.oclc.org jmg-bmj-com.uhn.idm.oclc.org
    Evidence for genetic anticipation in vonHippel-Lindau syndrome
    1
    1. ClingenBaseline 02 Nov 2026

      PatientID: 2 (Sister)

      KindredID: 7

      Case: F, 11Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: 6 members of this family were found to harbor the c.319C>G germline variant of the VHL gene. ID 11 presented with renal and pancreatic abnormalities, pheochromocytoma and other undefined phenotypes. ID 1 presented with pheochromocytoma. ID 24 presented with renal abnormalities, and pheochromocytoma, and died at age 62. ID 10 presented with CNS hemangioblastoma, pancreatic abnormalities and pheochromocytoma. ID 4 presented with pheochromocytoma.

      CasePresentingHPOs: HP:0001732 (Abnormality of the pancreas)

      CaseHPOFreeText: The patient presented with pancreatic abnormalities (9Y).

      CaseNotHPOs: HP:0009711; HP:0005584; HP:0010797; HP:0002666; HP:0000077 (Retinal capillary hemangioma, Renal cell carcinoma, Hemangioblastoma, Pheochromocytoma, Abnormality of the kidney)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table 1.

      Variant: p.R107G (c.319C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 43599, https://www.ncbi.nlm.nih.gov/clinvar/variation/43599/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: R107G (c.319C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:abnormalityofthepancreas AgeOfPresentation:abnormalityofthepancreas:9 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:319 ProteinPosition:107 AminoAcidChange:ARGtoGLY ClinVarID:43599 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:R107G(c.319C>G) Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    jmg-bmj-com.uhn.idm.oclc.org/content/55/6/395
  4. journals.lww.com journals.lww.com
    Six weeks into the 2019 coronavirus disease (COVID-19)... : Chinese Medical Journal
    1
    1. ClingenBaseline 30 Oct 2026
      c.319C>G [p.Arg107Gly]

      PatientID: Father (of proband)

      KindredID: 7

      Case: M, 80Y0M, Chinese

      DiseaseAssertion: renal cell carcinoma

      FamilyInfo: Positive - His 2 children both had the same germline mutation. This first child (proband; sex unknown) had hemangioblastoma first presenting at 55Y, and their second child (son) was asymptomatic.

      CasePresentingHPOs: HP:0005584 (renal cell carcinoma)

      CaseHPOFreeText: asymptomatic upon genetic testing, but screening of VHL tumours after genetic testing revealed a left RCC with lung metastasis at 80Y

      CaseNotHPOs: HP:0002666; HP:0009715; HP:0010797 (pheochromocytoma, Papillary cystadenoma of the epididymis, hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R107G (c.319C>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 43599 https://www.ncbi.nlm.nih.gov/clinvar/variation/43599/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: R107G (c.319C>G)

      MultipleGeneVariants: N/A

      AgeOfPresentation:renalcellcarcinoma:80 DiseaseEntity:renalcellcarcinoma Ethnicity:Chinese Mutation:Germline RefSeq:NM_000551.2 CivicName:R107G(c.319C>G) cDNAposition:319 ProteinPosition:107 AminoAcidChange:ARGtoGLY MutationType:missense_variant;transversion ClinVarID:Yes ClinVarID:43599 ExperimentalAssay Familial InheritancePattern:AutosomalDominant inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    journals.lww.com/cmj/fulltext/2007/11020/management_of_solid_renal_tumour_associated_with.22.aspx
  5. Oct 2026
  6. jmg-bmj-com.uhn.idm.oclc.org jmg-bmj-com.uhn.idm.oclc.org
    Evidence for genetic anticipation in vonHippel-Lindau syndrome
    2
    1. ClingenBaseline 28 Oct 2026

      PatientID: 1 (Proband)

      KindredID: 7

      Case: M, 12Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: 6 members of this family were found to harbor the c.319C>G germline variant of the VHL gene. ID 11 presented with renal and pancreatic abnormalities, pheochromocytoma and other undefined phenotypes. ID 24 presented with renal abnormalities, and pheochromocytoma, and died at age 62. ID 2 presented with pancreatic abnormalities. ID 10 presented with CNS hemangioblastoma, pancreatic abnormalities and pheochromocytoma. ID 4 presented with pheochromocytoma.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: The patient presented pheochromocytoma (4Y).

      CaseNotHPOs: HP:0009711; HP:0005584; HP:0001732; HP:0010797; HP:0000077 (Retinal capillary hemangioma, Renal cell carcinoma, Abnormality of the pancreas, Hemangioblastoma, Abnormality of the kidney)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table 1.

      Variant: p.R107G (c.319C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 43599, https://www.ncbi.nlm.nih.gov/clinvar/variation/43599/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: R107G (c.319C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:4 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:319 ProteinPosition:107 AminoAcidChange:ARGtoGLY ClinVarID:43599 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:R107G(c.319C>G) Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 24 Oct 2026

      PatientID: 11 (Father)

      KindredID: 7

      Case: M, 39Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: 6 members of this family were found to harbor the c.319C>G germline variant of the VHL gene. ID 24 presented with renal abnormalities, and pheochromocytoma, and died at age 62. ID 1 presented with pheochromocytoma. ID 2 presented with pancreatic abnormalities. ID 10 presented with CNS hemangioblastoma, pancreatic abnormalities and pheochromocytoma. ID 4 presented with pheochromocytoma.

      CasePresentingHPOs: HP:0002666; HP:0000077; HP:0001732 (Pheochromocytoma, Abnormality of the kidney, Abnormality of the pancreas)

      CaseHPOFreeText: The patient presented with renal and pancreatic cyst or tumor (unspecified) (33Y), pheochromocytoma (21Y) and other undefined phenotypes (33Y).

      CaseNotHPOs: HP:0009711; HP:0005584; HP:0010797 (Retinal capillary hemangioma, Renal cell carcinoma, Hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table 1.

      Variant: p.R107G (c.319C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 43599, https://www.ncbi.nlm.nih.gov/clinvar/variation/43599/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: R107G (c.319C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:abnormalityofthekidney DiseaseEntity:abnormalityofthepancreas AgeOfPresentation:pheochromocytoma:21 AgeOfPresentation:abnormalityofthekidney:33 AgeOfPresentation:abnormalityofthepancreas:33 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:319 ProteinPosition:107 AminoAcidChange:ARGtoGLY ClinVarID:43599 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:R107G(c.319C>G) Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    jmg-bmj-com.uhn.idm.oclc.org/content/55/6/395
  7. journals.lww.com journals.lww.com
    Six weeks into the 2019 coronavirus disease (COVID-19)... : Chinese Medical Journal
    1
    1. ClingenBaseline 23 Oct 2026
      c.319C>G [p.Arg107Gly]

      PatientID: 7

      KindredID: 7

      Case: 55Y0M, Sex unknown, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: Positive -- Their father and brother both had the same germline mutation. Their father was screened after genetic testing and found to have a left RCC with lung metastasis at age 80, and their brother was asymptomatic.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: CNS hemangioblastoma first presenting at 55Y

      CaseNotHPOs: HP:0005584; HP:0002666; HP:0009715 (renal cell carcinoma, pheochromocytoma, Papillary cystadenoma of the epididymis)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R107G (c.319C>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 43599 https://www.ncbi.nlm.nih.gov/clinvar/variation/43599/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: R107G (c.319C>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma AgeOfPresentation:hemangioblastoma:55 Mutation:Germline Ethnicity:Chinese ClinVarID:43599 ClinVarID:Yes ExperimentalAssay Familial MutationType:missense_variant;transversion CivicName:R107G(c.319C>G) AminoAcidChange:ARGtoGLY ProteinPosition:107 cDNAposition:319 RefSeq:NM_000551.2 InheritancePattern:AutosomalDominant inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

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    URL

    journals.lww.com/cmj/fulltext/2007/11020/management_of_solid_renal_tumour_associated_with.22.aspx