63 Matching Annotations
  1. Last 7 days
  2. link.springer.com link.springer.com
    Retinal angiomatosis and von Hippel-Lindau disease
    2
    1. ClingenBaseline 04 Nov 2026

      GroupID: 23

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: 41 non-related patients with retinal angiomatosis between 1988 and 1999 were evaluated.

      CasePresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: R161* (c.694C>T)

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL NoFamilyInfo DiseaseEntity:retinalcapillaryhemangioma ProteinPosition:161 CivicName:R161*(c.481C>T) cDNAposition:481 Mutation:Germline MutationType:stop_gained ClinVarID:2217 ClinVarID:Yes AssumedRefSeq:AF010238.1 AminoAcidChange:ARGtoTER inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 03 Nov 2026

      GroupID: 22

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: Unknown

      GroupNumberFemales: Unknown

      GroupEthnicity: Unknown

      GroupAgeRange: Unknown

      GroupInfo: This family group of 2 people has clinically confirmed VHL disease. This family were found to harbour the c.481C>T variant (noted in the paper as c.694C>T due to Latif reference transcript being used).

      GroupPresentingHPOs: HP:0009711 (Retinal capillary hemangioma)

      GroupHPOFreeText: Patients within this family were found to have a clinical diagnosis of VHL disease. No VHL clinical phenotypes were explicitly stated other than retinal capillary hemangioma in one patient.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: R161* (c.694C>T)

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Familial FamilyCohort DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma MutationType:stop_gained Mutation:Germline CivicName:R161*(c.481C>T) cDNAposition:481 ProteinPosition:161 ClinVarID:2217 ClinVarID:Yes AssumedRefSeq:AF010238.1 AminoAcidChange:ARGtoTER inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s004170000200
  3. link.springer.com link.springer.com
    Pheochromocytoma in von hippel-lindau disease: Distinct histopathologic phenotype compared to pheochromocytoma in multiple endocrine neoplasia type 2
    1
    1. ClingenBaseline 03 Nov 2026

      PatientID: 1

      KindredID: 1

      Case: M, 45Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: It is stated that the eight VHL patients were selected from the group of familial VHL patients. Assuming there is family history.

      CohortInfo: Eight patients with VHL disease with pheochromocytoma, eight patients with MEN2 and pheochromocytoma, and 10 sporadic patients.

      CasePresentingHPOs: HP:0006748, HP:0010797, HP:0005584, HP:0009715, HP:0030405 (adrenal pheochromocytoma, hemangioblastoma, renal cell carcinoma, papillary cystadenoma of the epididymis, pancreatic endocrine tumour)

      CaseHPOFreeText: The patient had a left adrenal pheochromocytoma at age 42.

      CaseNotHPOs: HP:0008221 (Adrenal hyperplasia)

      CaseNotHPOFreeText: The patient did not have adrenomedullary hyperplasia.

      CasePreviousTesting: N/A

      PreviouslyPublished: Suspected to be, but not mentioned in paper. Paper says, the eight VHL patients were selected from the group of familial VHL patients withknown VHL germline mutations followed on a clinical protocol at the Urologic Oncology Branch, National Cancer Institute, National Institutes of Health (NIH).

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.R161* (c.694C>T)

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:AF010238.1 DiseaseEntity:VHL Familial DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:papillarycystadenomaoftheepididymis AgeOfPresentation:adrenalpheochromocytoma:42 ClinVarID:2217 ClinVarID:Yes CivicName:R161*(c.481C>T) ProteinPosition:161 cDNAposition:481 MutationType:stop_gained AminoAcidChange:ARGtoTER inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    link.springer.com/article/10.1385/EP:13:1:17
  4. www.tandfonline.com www.tandfonline.com
    Molecular-genetic diagnostics of von Hippel-Lindau syndrome (VHL) in Bulgaria: first complex mutation event in the VHL gene
    1
    1. ClingenBaseline 03 Nov 2026
      The stop codon mutation c.481C>T, p.Arg161* (known as: c.694C>T, p.Arg232* according to the former nomenclature), also situated in exon 3 of the gene, was detected in a 46-year-old male (patient #4) self-referred and presenting (as reported by himself) two RCC and two cHB. Several family members were affected by the VHL disease: the patient's father has been operated for multiple large cHBs; the patient's brother has been operated for multiple cHBs and died from RCC; his nephew (brother's son) has been operated for large cHB. Unfortunately, the patient did not provide us with more detailed medical data on his own condition.

      PatientID: 4

      KindredID: 4

      Case: M, 46Y0M, Bulgarian

      DiseaseAssertion: VHL

      FamilyInfo: Several family members were affected by the VHL disease: the patient's father has been operated for multiple large cHBs; the patient's brother has been operated for multiple cHBs and died from RCC; his nephew (brother's son) has been operated for large cHB. No familial genotype was confirmed.

      CasePresentingHPOs: HP:0005584; HP:0010797 (renal cell carcinoma, hemangioblastoma)

      CaseHPOFreeText: 2 RCC and 2 cHB were both self-reported; patient was operated and treated for RCC; follow-up for cHB.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: SNP c.870A>G in CCND1 gene (G>G)

      InheritancePattern:AutosomalDominant Ethnicity:Bulgarian DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:hemangioblastoma Mutation:Germline RefSeq:NM_000551.3 CivicName:R161*(c.481C>T) cDNAposition:481 AminoAcidChange:ARGtoTER MutationType:stop_gained ClinVarID:2217 ClinVarID:Yes Familial ProteinPosition:161 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    tandfonline.com/doi/full/10.1080/00207454.2017.1372436
  5. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype–phenotype correlations in von Hippel-Lindau disease
    3
    1. ClingenBaseline 03 Nov 2026

      GroupID: 35

      DiseaseAssertion: assumed VHL

      GroupSize: 10

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: 10 of the 573 patients discussed in this paper were found to have the following mutation belonging to 2 families altogether.

      GroupPresentingHPOs: HP:0006880; HP:0009711; HP:0005584; HP:0002666 (cerebellar hemangioblastoma, retinal capillary hemangioma; renal cell carcinoma; pheochromocytoma)

      GroupHPOFreeText: 8 patients had retinal angiomas diagnosed at a mean age of 27Y, 4 had cerebellar hemangioblastomas diagnosed at a mean age of 31Y, 1 member had RCC diagnosed at 50Y, and one has pheochromocytoma diagnosed at 27Y.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S1.

      Variant: p.R177* (c.529A>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 625258 https://www.ncbi.nlm.nih.gov/clinvar/variation/625258/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R177* (c.529A>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:renaltransitionalcellcarcinoma DiseaseEntity:pheochromocytoma DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:renalcellcarcinoma:50 AgeOfPresentation:pheochromocytoma:27 CivicName:R177*(c.529A>T) cDNAposition:529 ProteinPosition:177 AminoAcidChange:ARGtoTER MutationType:stop_gained ClinVarID:625258 ClinVarID:Yes Mutation:Germline RefSeq:NM_000551.2 ExperimentalAssay InheritancePattern:AutosomalDominant Familial SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 02 Nov 2026

      GroupID: 8

      Case: 37Y0M, Sex Unknown, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: 1 of the 573 patients discussed in this paper were found to have this variant. This mutation was found in 1 VHL family with a single patient.

      CasePresentingHPOs: HP:0005584; HP:0009711; HP:0006880 (renal cell carcinoma; retinal capillary hemangioma; cerebellar hemangioblastoma)

      CaseHPOFreeText: patient had retinal angiomas diagnosed at 28Y, cerebellar hemangioblastomas diagnosed at 22Y, and renal cell carcinoma diagnosed at 37Y.

      CaseNotHPOs: HP:0002666 (pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S1.

      Variant: p.R177* (c.529A>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 625258 https://www.ncbi.nlm.nih.gov/clinvar/variation/625258/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R177* (c.529A>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:retinalcapillaryhemangioma:28 AgeOfPresentation:cerebellarhemangioblastoma:22 AgeOfPresentation:renalcellcarcinoma:37 ProteinPosition:177 CivicName:R177*(c.529A>T) cDNAposition:529 AminoAcidChange:ARGtoTER MutationType:stop_gained ClinVarID:625258 ClinVarID:Yes Mutation:Germline RefSeq:NM_000551.2 SupplementalData ExperimentalAssay NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    3. ClingenBaseline 31 Oct 2026

      GroupID: 31

      DiseaseAssertion: assumed VHL

      GroupSize: 30

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: 30 of the 573 patients discussed in this paper were found to have identical variants. This nonsense mutation (R161* (c.481C>T)) was found in 7 VHL families with 30 patients altogether.

      GroupPresentingHPOs: HP:0009711; HP:0006880; HP:0005584; HP:0002666 (retinal capillary hemangioma, cerebellar hemangioblastoma, renal cell carcinoma, pheochromocytoma)

      GroupHPOFreeText: 24 had retinal hemangioblastoma, 13 had cerebellar hemangioblastomas, 14 had renal cell carcinoma, and 3 had pheochromcytoma. Mean ages for each diagnosis follows: 23 (RH), 28 (CHB), 38.7 (RCC), 34 (Pheo)

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S1.

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:pheochromocytoma CivicName:R161*(c.481C>T) cDNAposition:481 ProteinPosition:161 AminoAcidChange:ARGtoTER MutationType:stop_gained ClinVarID:2217 CAID:CA020408 Familial RefSeq:NM_000551.2 SupplementalData ClinVarID:Yes InheritancePattern:AutosomalDominant ExperimentalAssay Mutation:Germline 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. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.
    2
    1. ClingenBaseline 03 Nov 2026
      VHL kindreds for germline mutations and calculated the age related tumour risks for different classes of VHL gene mutations.

      PatientID: None

      KindredID: 36

      Case: Age, sex ethnicity unknown

      DiseaseAssertion: unknown; paper focused only on pheochromocytoma

      FamilyInfo: No specific family info was present; although this was recorded as a family germline mutation belonging to Family ID 36

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Unknown

      CaseNotHPOs: HP:0002666 (pheochromocytoma)

      CaseNotHPOFreeText: No presence of phaeochromocytoma in family

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R177* (c.529A>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.R177* (c.742A>T)

      ClinVarID: 625258 https://www.ncbi.nlm.nih.gov/clinvar/variation/625258/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R177* (c.529A>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:asymptomatic Mutation:Germline RefSeq:AF010238.1 cDNAposition:529 CivicName:R177*(c.529A>T) ProteinPosition:177 AminoAcidChange:ARGtoTER MutationType:stop_gained ClinVarID:625258 ClinVarID:Yes Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 01 Nov 2026
      VHL kindreds for germline mutations and calculated the age related tumour risks for different classes of VHL gene mutations

      PatientID: None

      KindredID: 109

      Case: Age, sex ethnicity unknown

      DiseaseAssertion: unknown; paper focused only on pheochromocytoma

      FamilyInfo: No specific family info was present; although this was recorded as a family germline mutation belonging to Family ID 109

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Unknown or unstated.

      CaseNotHPOs: HP:0002666 (pheochromocytoma)

      CaseNotHPOFreeText: No presence of phaeochromocytoma in family

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: R161* (c.694C>T)

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline RefSeq:AF010238.1 CivicName:R161*(c.481C>T) cDNAposition:481 ProteinPosition:161 AminoAcidChange:ARGtoTER ClinVarID:2217 ClinVarID:Yes MutationType:stop_gained Familial DiseaseEntity:asymptomatic inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC1050584/
  7. www.karger.com www.karger.com
    Growth Kinetics in Von Hippel-Lindau-Associated Renal Cell Carcinoma
    2
    1. ClingenBaseline 02 Nov 2026

      PatientID: 63

      KindredID: N/A

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: The authors evaluated 64 VHL patients (32 women and 32 men) with renal involvement of whom 54/64 had undergone renal surgery or a radiofrequency thermal ablation procedure for RCC. In 10/64 VHL patients, at least one or more RCC were diagnosed, however at the time of diagnosis an indication for treatment was not yet present. For all patients several CT/MRI scans existed for retrospective description of tumour growth kinetics.

      CasePresentingHPOs: HP:0005584 (Renal cell carcinoma)

      CaseHPOFreeText: This is a tumor resolution study (VHL patients were investigated based on the presence of renal tumors.) No other phenotypic information is available.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S2 describes 9 patients with nonsense mutations, including this patient.

      Variant: p.R161* (c.481C>T)

      LegacyVariant: c.694C>T

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2217, https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma Mutation:Germline AssumedRefSeq:AF010238.1 ClinVarID:Yes CivicName:R161*(c.481C>T) NoFamilyInfo SupplementalData cDNAposition:481 ProteinPosition:161 AminoAcidChange:ARGtoTER ClinVarID:2217 MutationType:stop_gained inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 31 Oct 2026

      PatientID: 61

      KindredID: N/A

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: The authors evaluated 64 VHL patients (32 women and 32 men) with renal involvement of whom 54/64 had undergone renal surgery or a radiofrequency thermal ablation procedure for RCC. In 10/64 VHL patients, at least one or more RCC were diagnosed, however at the time of diagnosis an indication for treatment was not yet present. For all patients several CT/MRI scans existed for retrospective description of tumour growth kinetics.

      CasePresentingHPOs: HP:0005584 (Renal cell carcinoma)

      CaseHPOFreeText: This is a tumor resolution study (VHL patients were investigated based on the presence of renal tumors.) No other phenotypic information is available.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S2 describes 9 patients with nonsense mutations, including this patient.

      Variant: p.R161* (c.481C>T)

      LegacyVariant: c.694C>T

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2217, https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma Mutation:Germline AssumedRefSeq:AF010238.1 ClinVarID:Yes CivicName:R161*(c.481C>T) NoFamilyInfo SupplementalData cDNAposition:481 ProteinPosition:161 AminoAcidChange:ARGtoTER ClinVarID:2217 MutationType:stop_gained inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    karger.com/Article/Abstract/333348
  8. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype-phenotype correlations in Chinese von Hippel–Lindau disease patients
    1
    1. ClingenBaseline 02 Nov 2026

      PatientID: 160

      KindredID: 61

      Case: M, 44Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0005584 (Renal cell carcinoma)

      CaseHPOFreeText: The proband presented with a renal cell carcinoma at age 44.

      CaseNotHPOs: HP:0009711; HP:0002666; HP:0010797; HP:0001737; HP:0001732 (Retinal capillary hemangioma, Pheochromocytoma, CNS Hemangioblastoma, Pancreatic cysts, Abnormality of the pancreas)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: This cohort was also published in a later paper by Wang et al., 2018 (PMID: 29330336).

      SupplementalData: Patient and family genotype-phenotype information is listed in Supplementary Table 1.

      Variant: p.R161* (c.481C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2217, https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma AgeOfPresentation:renalcellcarcinoma:44 AssumedRefSeq:NM_000551.3 cDNAposition:481 ProteinPosition:161 MutationType:missense_variant;transition SupplementalData ClinVarID:Yes ClinVarID:2217 PreviouslyPublished:29330336 AminoAcidChange:ARGtoTER CivicName:R161*(c.481C>T) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5503545/
  9. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma
    1
    1. ClingenBaseline 02 Nov 2026

      PatientID: V59

      KindredID: V59

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText:N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R113* (c.337C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 220414 https://www.ncbi.nlm.nih.gov/clinvar/variation/220414/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType:stop_gained

      CivicName: R113* (c.337C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:VHL NoFamilyInfo ProteinPosition:113 CivicName:R113*(c.337C>T) cDNAposition:337 ClinVarID:220414 ClinVarID:Yes MutationType:stop_gained AminoAcidChange:ARGtoTER inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/9829912/
  10. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma
    1
    1. ClingenBaseline 02 Nov 2026
      PMID: 7977367

      PatientID: N/A

      KindredID: Caki-2 (cell line)

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Renal cell carcinoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0005584 (renal cell carcinoma)

      CaseHPOFreeText: Described as sporadic RCC from cell line Caki-2

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R177* (c.529A>T)

      LegacyVariant: p.R248* (c.742A>T)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625258 https://www.ncbi.nlm.nih.gov/clinvar/variation/625258/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence:N/A

      MutationType: stop_gained

      CivicName: R177* (c.529A>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:renalcellcarcinoma ProteinPosition:177 cDNAposition:529 CivicName:R177*(c.529A>T) MutationType:stop_gained AminoAcidChange:ARGtoTER ClinVarID:625258 ClinVarID:Yes NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/7977367/
  11. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype-Phenotype Correlation in Patients With Germline Mutations of VHL, RET, SDHB, and SDHD Genes: Thai Experience
    2
    1. ClingenBaseline 02 Nov 2026
      p.Arg161X39M+CHB, RCC, pancreatic cyst

      PatientID: 5

      KindredID: 4

      Case: M, 39Y0M, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: Familial VHL mutation - Patient and their 4 relatives harbored p.Arg161X mutation - all with the same phenotypes hemangioblastoma, renal cell carcinoma and pancreatic cysts

      CasePresentingHPOs: HP:0010797; HP:0005584; HP:0001737 (hemangioblastoma; renal cell carcinoma; pancreatic cysts)

      CaseHPOFreeText: With an age of diagnosis of VHL at 39

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: Patients with clinical manifestations suggestive of VHL or MEN2 were first screened for VHL or RET mutation, respectively. Possible screening of RET, SDHB and SDHD as well

      PreviouslyPublished: N/A

      SupplementalData: Yes

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts Mutation:Germline cDNAposition:481 CivicName:R161*(c.481C>T) ProteinPosition:161 AminoAcidChange:ARGtoTER MutationType:stop_gained ClinVarID:2217 ClinVarID:Yes Familial PreviousTesting:RET/SDHB/SDHD AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 31 Oct 2026
      p.Arg161X41F+CHB, RCC, pancreatic cyst

      PatientID: 4

      KindredID: 4

      Case: F, 41Y0M, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: Familial VHL mutation - This one index case and their 4 relatives harbored p.Arg161X mutation - all with the same phenotypes hemangioblastoma, renal cell carcinoma and pancreatic cysts

      CasePresentingHPOs: HP:0010797; HP:0005584; HP:0001737 (hemangioblastoma; renal cell carcinoma; pancreatic cysts)

      CaseHPOFreeText: With an age of diagnosis of VHL at 41

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: Patients with clinical manifestations suggestive of VHL or MEN2 were first screened for VHL or RET mutation, respectively. Possible screening of RET, SDHB and SDHD as well

      PreviouslyPublished: N/A

      SupplementalData: Yes

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts Mutation:Germline CivicName:R161*(c.481C>T) cDNAposition:481 ProteinPosition:161 AminoAcidChange:ARGtoTER MutationType:stop_gained ClinVarID:2217 ClinVarID:Yes Familial PreviousTesting:RET/SDHB/SDHD AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5404897/
  12. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Von Hippel-Lindau disease germline mutations in Mexican patients with cerebellar hemangioblastoma
    1
    1. ClingenBaseline 02 Nov 2026
      Ninety-eight individuals were tested for VHL mutations--23 symptomatic and 75 asymptomatic individuals belonging to 16 families. Seven of the families had definite clinical criteria of VHL disease, five had sporadic hemangioblastoma, and four had CNS hemangioblastoma combined with minor visceral signs. Molecular genetic testing identified five germline mutations in six of the definite VHL families (sensitivity 85%), but none in the possible VHL and sporadic hemangioblastoma cases; four of these mutations had been previously described and one is a novel mutation present in two unrelated families. After patients carrying the mutation were identified, they underwent clinical screening and asymptomatic VHL-related lesions were identified in 43%.

      PatientID: 25

      KindredID: E

      Case: Sex Unknown, 32Y0M, Mexican (Latino/Admixed American)

      DiseaseAssertion: assumed VHL

      FamilyInfo: No family history discussed

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

      CaseHPOFreeText: Symptomatic by 32Y, clinically manifested as 3 cerebellar hemangioblastomas, pancreatic and renal cyst

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 20064270

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A
      InheritancePattern:AutosomalDominant Ethnicity:Mexican Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:hemangioblastoma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts CivicName:R161*(c.481C>T) cDNAposition:481 ProteinPosition:161 AminoAcidChange:ARGtoTER ClinVarID:2217 ClinVarID:Yes NonFamilial MutationType:stop_gained inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/16572651/
  13. 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 02 Nov 2026

      PatientID: 77

      KindredID: 77

      Case: Sex Unknown, 23Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: None

      CasePresentingHPOs: HP:0010797 (hemangioblastoma )

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0009711, HP:0001737, HP:0002666, HP:0000107, HP:0006770 (retinal capillary hemangioma, pancreatic cyst, pheochromocytoma, renal cyst, clear cell renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table S1, S2, S3.

      Variant: p.R113*(c.337C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 220414 https://www.ncbi.nlm.nih.gov/clinvar/variation/220414/

      CAID: CA348491 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.337C%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R113*(c.337C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:hemangioblastoma DiseaseEntity:VHL RefSeq:NM_000551.3 Mutation:Germline MutationType:stop_gained SupplementalData ClinVarID:220414 CAID:CA348491 cDNAposition:337 ProteinPosition:113 CivicName:R113*(c.337C>T) NonFamilial ClinVarID:Yes AminoAcidChange:ARGtoTER ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/21463266/
  14. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients
    1
    1. ClingenBaseline 01 Nov 2026
      The six nonsense variants were localized to nucleotides 263 and 481 (codons 88 and 161)

      PatientID: 28

      KindredID: 28

      Case: Age, Sex, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797; HP:0006770; HP:0100634 (hemangioblastoma, clear cell renal cell carcinoma, neuroendocrine neoplasm)

      CaseHPOFreeText: patient was recorded with a CNS hemangioblastoma, CCRC, and a pheochromocytoma and/or paraganglioma (neuroendocrine neoplasm)

      CaseNotHPOs: HP:0030421; HP:0030405; HP:0009711 (epididymal tumour, pancreatic endocrine tumour, retinal capillary hemangioma)

      CaseNotHPOFreeText: patient was not recorded to have retinal hemangioblastoma, an epididymal tumor, nor a pancreatic endocrine tumour (pancreatic neuroendocrine neoplasm)

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

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

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:neuroendocrineneoplasm RefSeq:NM_000551.3 ProteinPosition:161 CivicName:R161*(c.481C>T) cDNAposition:481 ClinVarID:2217 Mutation:Germline SupplementalData MutationType:stop_gained AminoAcidChange:ARGtoTER NoFamilyInfo ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/full/10.1111/cge.13613
  15. academic-oup-com.proxy1.lib.uwo.ca academic-oup-com.proxy1.lib.uwo.ca
    Hemangioblastomas and Neurogenic Polyglobulia
    1
    1. ClingenBaseline 01 Nov 2026

      PatientID: 3

      KindredID: 3

      Case: M, 47Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: The patient had a hemangioblastoma in the brainstem (cerebellopontine angle) and had high-normal Hb level (18.3).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      LegacyVariant: p.R161* (c.694C>T)

      CaseProblemVariantFreeText: N/A

      ClinVarID:2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: CA020408 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.481C%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma AgeOfPresentation:hemangioblastoma:47 Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:481 ProteinPosition:161 MutationType:stop_gained CAID:CA020408 ClinVarID:2217 NoFamilyInfo CivicName:R161*(c.481C>T) ClinVarID:Yes AminoAcidChange:ARGtoTER inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    academic-oup-com.proxy1.lib.uwo.ca/neurosurgery/article/72/6/930/2417731
  16. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Outcome and genetic analysis of patients affected by retinal capillary hemangioblastoma in von Hippel Lindau syndrome
    3
    1. ClingenBaseline 01 Nov 2026
      Patient P9 In 2005, a 32-year-old woman was examined at the clinic. The patient had been diagnosed in 2000 with multiple cerebellar and spinal hemangioblastomas. BCVA was 20/20 and 20/25 in OD and OS, respectively. No retinal abnormalities were found in OD. A peripheral superior RCH, already partially treated with laser photocoagulation, was observed in OS. FA showed the presence of many tiny RCHs that surrounded the major lesion. Further laser treatments were scheduled, but the patient was lost at follow-up. She came to the ophthalmic emergency service three years later; BCVA of OS had decreased to 20/640, and she presented an exudative retinal detachment that involved the posterior pole. The partially treated RCH of OS had become more extensive, and FA revealed that the tiny RCHs had increased in number. In 2008, a scleral buckle with transscleral cryotherapy was performed in OS; however, at follow-up the retinal detachment was still present, and the patient developed neovascular glaucoma with a seclusio pupillae. Visual acuity of OS was no light perception. RCHs were not detected during follow-up in OD.

      PatientID: 9

      KindredID: 5

      Case: F, 46Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: A family pedigree is provided in figure 1. Neither parent had VHL syndrome characterized by retinal capillary hemangiomas (RCHs). They likely did not undergo molecular testing because there was no mention of de novo status.

      CasePresentingHPOs: HP:0006880; HP:0009711; HP:0009713; HP:0000541 (Cerebellar hemangioblastoma; Retinal capillary hemangioma; Spinal hemangioblastoma; Retinal detachment)

      CaseHPOFreeText: A 32-year-old woman had been diagnosed in 2000 with multiple cerebellar and spinal hemangioblastomas. In 2005, she was examined at the eye clinic and were visual acuity was 20/20 and 20/25 in the right and left eye, respectively. No abnormalities were found in the right eye, but a peripheral RCH that was already partially treated with laser was observed in the left eye. Many tiny RCHs that surrounded the major lesion were also detected in this eye. Further laser treatments were scheduled, but the patient did not follow-up and instead came to the ophthalmic emergency service three years later. Visual acuity of the left eye worsened to 20/640, and she presented with retinal detachment. The partially treated RCH of the left eye worsened and and more tiny RCHs were detected. Cryotherapy was performed in the left eye but retinal detachment was still present at follow up. On follow up, no RCHs were detected in the right eye and vision loss developed in both eyes.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: Patient did not have other known tumours.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R113* (c.337C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 220414, https://www.ncbi.nlm.nih.gov/clinvar/variation/220414/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R113* (c.337C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:stop_gained FamilyPedigree ClinVarID:Yes DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:retinaldetachment AgeOfPresentation:cerebellarhemangioblastoma:27 AgeOfPresentation:spinalhemangioblastoma:27 AgeOfPresentation:retinalcapillaryhemangioma:27 AgeOfPresentation:retinaldetachment:35 ClinVarID:220414 CivicName:R113*(c.337C>T) cDNAPosition:337 ProteinPosition:113 AminoAcidChange:ARGtoTER AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 31 Oct 2026
      P6F3F610nnOU20/200nn20/20nnn

      PatientID: 6

      KindredID: 3

      Case: F, 10Y0M, Ethnicity Unknown

      DiseaseAssertion: Asymptomatic

      FamilyInfo: A family pedigree is provided in figure 1. Both the father and brother of patient 6 were found to have the same mutation. Her father had retinal, cerebellar and spinal hemangioblastomas, as well as retinal detachment. Her 7-year-old brother did not have any known tumours.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0009711 (Retinal capillary hemangioma)

      CaseNotHPOFreeText: Patient did not have retinal capillary hemangioma or other known tumours.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2217, https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      Mutation:Germline MutationType:stop_gained InheritancePattern:AutosomalDominant FamilyPedigree ClinVarID:2217 cDNAPosition:481 ProteinPosition:161 ClinVarID:Yes DiseaseEntity:asymptomatic CivicName:R161*(c.481C>T) AminoAcidChange:ARGtoTER Familial AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    3. ClingenBaseline 30 Oct 2026
      Patient P8 In October 2019, visual impairment was diagnosed in a 14-year-old boy. BCVA was 20/20 and 20/640 in OD and OS, respectively. Four peripheral RCHs were detected in OD. In OS, multiple RCHs were present; the largest was located temporally, and it consisted in the coalescence of many RCHs. The visual impairment of OS was due to the severe exudative process which involved the macula. Moreover, FA revealed numerous microhemangioblastomas that could not be detected using other diagnostic techniques. Laser therapy was performed in OU, but vitreous hemorrhage occurred in OS. Therefore, three anti-VEGF IV (bevacizumab) and simultaneous transscleral cryotherapies were performed under general anesthesia. Many laser sessions were necessary to obtain regression of the RCHs. Further investigations revealed the presence of a cerebellar hemangioblastoma.

      PatientID: 8

      KindredID: 4

      Case: M, 14Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: A family pedigree is provided in figure 1. The parents of patient 8 were molecularly tested and neither possessed the mutation; thus, the mutation was identified as de novo. Neither parent had VHL syndrome characterized by retinal capillary hemangiomas (RCHs).

      CasePresentingHPOs: HP:0006880; HP:0009711 (Cerebellar hemangioblastoma; Retinal capillary hemangioma)

      CaseHPOFreeText: In 2019, a 14-year-old boy was diagnosed with visual impairment, due to visual acuity of 20/20 in the right eye and 20/640 in the left eye. Four peripheral RCHs were detected in the right eye. The visual impairment of the left eye was due to the severe exudative process involving the macula. Moreover, numerous microhemangioblastomas were revealed by fluorescein angiography. Laser therapy was performed in both eyes, but vitreous hemorrhage occurred in the left eye. Bevacizumab was given three times, as well simultaneous cryotherapies were performed under general anesthesia. Many laser sessions were performed for regression of the RCHs to occur. Further testing revealed a cerebellar hemangioblastoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: Patient did not have other known tumours.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R113* (c.337C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 220414, https://www.ncbi.nlm.nih.gov/clinvar/variation/220414/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R113* (c.337C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant MutationType:stop_gained Mutation:Germline FamilyPedigree ClinVarID:Yes ClinVarID:220414 CivicName:R113*(c.337C>T) cDNAPosition:337 ProteinPosition:113 AminoAcidChange:ARGtoTER DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:retinalcapillaryhemangioma:14 AgeOfPresentation:cerebellarhemangioblastoma:14 InheritancePattern:DeNovoAssertion AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC8416136/
  17. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease
    1
    1. ClingenBaseline 01 Nov 2026
      16p.R161X>18NAffected3 Hb, KC, PCSame

      PatientID: None

      KindredID: 16

      Case: Sex and Ethnicity unknown; Age >18Y0M

      DiseaseAssertion: assumed VHL

      FamilyInfo: None

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

      CaseHPOFreeText: 3 HB, 1 KC, 1 PC at first and final screenings

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 16572651

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:R161*(c.481C>T) cDNAposition:481 ProteinPosition:161 AminoAcidChange:ARGtoTER MutationType:stop_gained ClinVarID:2217 ClinVarID:Yes NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC2822817/
  18. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype
    1
    1. ClingenBaseline 01 Nov 2026
      Patient P8 DNA was simultaneously analysed with his daughter's DNA who had a heterozygous p.(R161*) VHL mutation

      PatientID: 8

      KindredID: 8

      Case: M,48Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: His daughter harboured the same VHL mutation.

      CohortInfo:Eight patients whose phenotypes were suggestive of VHL but were negative for a VHL abnormality both by PCR-Sanger sequencing and by quantitative multiplex PCR of short fluorescent fragments (QMPSF).

      CasePresentingHPOs: HP:0005584 (renal cell carcinoma)

      CaseHPOFreeText: The patient had bilateral renal cell carcinoma at age 48.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: The patient had a mosaic mutation with a mutated allele frequency of 1.7%.

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline Familial DiseaseEntity:renalcellcarcinoma AgeOfPresentation:renalcellcarcinoma:48 CivicName:R161*(c.481C>T) ProteinPosition:161 cDNAposition:481 ClinVarID:2217 ClinVarID:Yes MutationType:stop_gained RefSeq:NM_000551.3 AminoAcidChange:ARGtoTER inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4135403/
  19. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical presentation, genotype-phenotype correlations, and outcome of pancreatic neuroendocrine tumors in Von Hippel-Lindau syndrome
    1
    1. ClingenBaseline 30 Oct 2026
      9PExon 3Nonsensec.481C>Tp. Arg161TerPan/Kid-Cysts, RCC

      PatientID: 9

      KindredID: 7

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0005584; HP:0001737; HP:0000107 (Renal cell carcinoma; pancreatic cyst; renal cyst)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: MEN1/ RET

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551 PreviousTesting:RET DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts DiseaseEntity:renalcyst DiseaseEntity:VHL ProteinPosition:161 cDNAposition:481 CivicName:R161*(c.481C>T) MutationType:stop_gained AminoAcidChange:ARGtoTER ClinVarID:2217 ClinVarID:Yes NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC8440302/
  20. onlinelibrary-wiley-com.uhn.idm.oclc.org onlinelibrary-wiley-com.uhn.idm.oclc.org
    The genomic landscape of phaeochromocytoma
    1
    1. ClingenBaseline 30 Oct 2026
      All germline mutations in VHL,

      PatientID: V-PH-34T

      KindredID: 6

      Case: M, 40Y0M, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: A family history of VHL associated phenotypes was given. This patient is said to be the sibling of V-PH-33T with the germline VHL mutation: p.W117S (c.350G>C). V-PH-35T is also said to be a sibling, with the VHL mutation p.Arg161Ter.

      CasePresentingHPOs: HP:0006748; HP0010797; HP:0100565 (adrenal pheochromocytoma, hemangioblastoma, hydromyelia)

      CaseHPOFreeText: diagnosed with left adrenal phaeochromocytoma at age 40Y, surgery the same year. He also had a personal history including recurrent pheaochromocytoma and hemangioblastomas, and hydromyelia. He also had raised noradrenaline and normetanephrine levels

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, SDHA, SDHB, SDHC, TMEM127

      PreviouslyPublished: Likely; 26796762 (ID: RNSH10)

      SupplementalData: Yes (see table S1 and S10)

      Variant: p.R161* (c.481C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: Patient given as ENSP00000256474.2:p.Arg161Ter/ENSP00000256474.2:p.Arg200GlyfsTer2

      ClinVarID: 2217, https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: CivicName: R161* (c.481C>T) AND R200fs (c.598del)

      MultipleGeneVariants: Germline, KIF1B, c.184-6_184-5del; Germline, KIF1B, c.608+8dup; Somatic, VHL, c.delC; Germline, VHL, c.598del (p.Arg200GlyfsTer2)

      InheritancePattern:AutosomalDominant DiseaseEntity:hydromyelia DiseaseEntity:hemangioblastoma DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:40 Mutation:Germline AssumedRefSeq:NM_000551.3 MutationType:stop_gained ProteinPosition:161 CivicName:R161*(c.481C>T)ANDR200fs(c.598del) cDNAposition:481 AminoAcidChange:ARGtoTER SupplementalData MultipleGeneVariants MultipleVHLVariants ClinVarID:2217 ClinVarID:Yes Familial PreviousTesting:RET/SDHA/SDHB/SDHC/TMEM127 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary-wiley-com.uhn.idm.oclc.org/doi/full/10.1002/path.4503
  21. erc.bioscientifica.com erc.bioscientifica.com
    Overexpression of miR-210 is associated with SDH-related pheochromocytomas, paragangliomas, and gastrointestinal stromal tumours
    1
    1. ClingenBaseline 30 Oct 2026
      P1639MPCBenignVHL (p. Arg161X)NA50PosPos

      PatientID: P16

      KindredID: P16

      Case: M, 39Y0M, Ethnicity Unknown

      DiseaseAssertion: Pheochromocytoma

      FamilyInfo: N/A

      CohortInfo: Tumour samples and paired peripheral blood samples were obtained from 39 patients, consisting of 31 PCs, seven extra adrenal PGLs and one metastasis from a malignant PC previously presenting with a PC.

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: The patient had a benign pheochromocytoma measuring 50 mm at age 39.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/SDHB/SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: The tumour tested positive for SDHA and SHB IHC.

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:stop_gained AssumedRefSeq:NM_000551.3 DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:39 CasePreviousTesting:RET/SDHB/SDHD CivicName:R161*(c.481C>T) cDNAposition:481 ProteinPosition:161 ClinVarID:2217 ClinVarID:Yes NoFamilyInfo AminoAcidChange:ARGtoTER inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    erc.bioscientifica.com/view/journals/erc/21/3/415.xml
  22. www.liebertpub.com www.liebertpub.com
    VHL Germline Mutations in Argentinian Patients with Clinical Diagnoses or Single Typical Manifestations of Type 1 von Hippel-Lindau Disease
    1
    1. ClingenBaseline 30 Oct 2026
      nonsense mutations (6/16)

      PatientID: 9

      KindredID: 9

      Case: 25Y0M, Sex Unknown, Argentinian

      DiseaseAssertion: VHL

      FamilyInfo: No family history

      CasePresentingHPOs: HP:0010797; HP:0005584; HP:0001737; HP:0000107 (hemangioblastoma; renal cell carcinoma; pancreatic cysts; renal cyst)

      CaseHPOFreeText: Aged 25Y at diagnosis (genetic testing); fulfils type 1 VHL clinical diagnosis. CNS angiomas diagnosed at 22, ccRCC at 22Y, renal cysts and pancreatic cysts at 22Y (See Table 1 & 2).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      Ethnicity:Argentinian DiseaseEntity:VHL AgeOfPresentation:hemangioblastoma:22 AgeOfPresentation:clearcellrenalcellcarcinoma:22 AgeOfPresentation:renalcyst:22 AgeOfPresentation:pancreaticcysts:22 Mutation:Germline RefSeq:NM_000551.3 CivicName:R161*(c.481C>T) cDNAposition:481 ProteinPosition:161 AminoAcidChange:ARGtoTER MutationType:stop_gained ClinVarID:2217 ClinVarID:Yes NonFamilial DiseaseEntity:hemangioblastoma DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    liebertpub.com/doi/10.1089/gtmb.2016.0204
  23. Oct 2026
  24. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Development of synchronous VHL syndrome tumors reveals contingencies and constraints to tumor evolution
    1
    1. ClingenBaseline 29 Oct 2026
      Clinical case reportA 32-year-old male presented with hematuria. Ultrasound demonstrated multiple renal cysts and the initial diagnosis was polycystic kidney disease. However, the cysts enlarged during a surveillance period of one year, leading to computed tomography imaging demonstrating a locally advanced right renal tumor, and two tumors in the left kidney (Figure 1). Further investigation revealed capillary retinal angiomas and hemangiomas of the brain and spine typical of VHL disease, and he was diagnosed with a de novo, germline nonsense mutation in exon 3 of the VHL gene. At the age of 33, the patient underwent a radical right nephrectomy; histopathological examination confirmed a single stage 3, Fuhrman grade 3 ccRCC (pT3aN0M0). Six months later, there was progression in the left kidney and he was treated with partial left nephrectomy to remove both tumors. Both were stage 1 ccRCCs with a maximum Fuhrman grade of 2 (pT1aN0M0). At the time of this report, the patient remains in complete remission.

      PatientID: None

      KindredID: 1

      Case: M, 32Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0000790, HP:0009711, HP:0000107, HP:0009713, HP:0010797, HP:0006770 (hematuria, retinal capillary hemangioma, renal cyst, spinal hemangioblastoma, hemangioblastoma, clear cell renal cell carcinoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R120*(c.358A>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351753732 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.358A%3ET

      gnomAD: N/A

      VariantEvidence: All tumor regions also displayed 3p LOH.

      MutationType: stop_gained

      CivicName: R120*(c.358A>T)

      MultipleGeneVariants: Somatic, VHL, not described

      MutationType:stop_gained Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL NoFamilyInfo DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcyst DiseaseEntity:spinalhemangioblastoma DiseaseEntity:hemangioblastoma DiseaseEntity:clearcellrenalcellcarcinoma AgeOfPresentation:clearcellrenalcellcarcinoma:32 AgeOfPresentation:renalcyst:32 cDNA:358 ProteinPosition:120 CAID:CA351753732 ClinVarID:N/A CivicName:R120*(c.358A>T) MultipleVHLVariants InheritancePattern:DeNovoAssertion AminoAcidChange:ARGtoTER ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4166471/
  25. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma
    1
    1. ClingenBaseline 29 Oct 2026
      2 MA35/MPheochromocytoma (Bilateral)Father, sisterVHL{"type":"entrez-nucleotide","attrs":{"text":"NM_000551.4","term_id":"1779521775"}}NM_000551.4:c.481C>Tp.(Arg161Ter)rs5030818

      PatientID: 2 MA

      KindredID: 2

      Case: M, 35Y0M, Ethnicity Unknown

      DiseaseAssertion: Pheochromocytoma

      FamilyInfo: Patient had two other affected family members: their father and sister. It does not describe how they were affected nor any diagnosis or variant.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: Patient had bilateral pheochromocytoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, SDHB, SDHD, TMEM127

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161*(c.481C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161*(c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.4 DiseaseEntity:pheochromocytoma Familial CivicName:R161*(c.481C>T) cDNAposition:481 MutationType:stop_gained ProteinPosition:161 AminoAcidChange:ARGtoTER ClinVarID:2217 ClinVarID:Yes PreviousTesting:RET/SDHB/SDHD/TMEM127 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC7969383/
  26. cancerres.aacrjournals.org cancerres.aacrjournals.org
    Telomere Shortening Is Associated with Genetic Anticipation in Chinese Von Hippel–Lindau Disease Families
    1
    1. ClingenBaseline 29 Oct 2026
      c.481C>T p.Arg161Stop

      PatientID: None (proband 15)

      KindredID: 15

      Case: M, 36Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: Father had died before diagnosis therefore no DNA sample available; He presented with CNS hemangioblastomas at the age of 42.

      CasePresentingHPOs: HP:0010797; HP:0005584; HP:0001737; HP:0009715; HP:0030393 (hemangioblastoma, renal cell carcinoma, pancreatic cysts, papillary cystadenoma of the epididymis, endolymphatic sac tumor)

      CaseHPOFreeText: Patient presented with hemangioblastoma at age 29, renal cell carcinoma at age 29, pancreatic cysts at age 36, endolymphatic sac tumor at age 33, papillary cystadenoma of the epididymis at age 29.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts DiseaseEntity:papillarycystadenomaoftheepididymis DiseaseEntity:endolymphaticsactumor AgeOfPresentation:hemangioblastoma:29 AgeOfPresentation:renalcellcarcinoma:29 AgeOfPresentation:endolymphaticsactumor:33 AgeOfPresentation:papillarycystadenomaoftheepididymis:29 Mutation:Germline AssumedRefSeq:NM_000551.3 ClinVarID:2217 ClinVarID:Yes AminoAcidChange:ARGtoTER MutationType:stop_gained AgeOfPresentation:pancreaticcysts:36 ExperimentalAssay Familial CivicName:R161*(c.481C>T) cDNAposition:481 ProteinPosition:161 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    cancerres.aacrjournals.org/content/74/14/3802
  27. jmg.bmj.com jmg.bmj.com
    Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene
    1
    1. ClingenBaseline 28 Oct 2026
      481C>T

      GroupID/ KindredID: 15

      Case: Age unknown, Sex unknown, Polish

      DiseaseAssertion: VHL

      FamilyInfo: This mutation (p.R161* (c.481C>T)) was found in Family No. 15 with 1 member affected.

      CasePresentingHPOs: HP:0009711; HP:0010797; HP:0005584 (retinal capillary hemangioma, hemangioblastoma, renal cell carcinoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma Ethnicity:Polish Mutation:Germline AssumedRefSeq:NM_000551.3 Familial ClinVarID:2217 ClinVarID:Yes MutationType:stop_gained ProteinPosition:161 cDNAposition:481 CivicName:R161*(c.481C>T) AminoAcidChange:ARGtoTER ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    jmg.bmj.com/content/39/7/e38
  28. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene
    2
    1. ClingenBaseline 28 Oct 2026

      GroupID: 81

      DiseaseAssertion: VHL

      GroupSize: Unknown

      GroupNumberMales: Unknown

      GroupNumberFemales: Unknown

      GroupEthnicity: Unknown

      GroupAgeRange: Unknown

      GroupInfo: This family group had a history of clinically confirmed VHL disease. Members of this family were found to harbour the c.337C>T variant causing a p.Arg113* stopgain (noted in the paper as c.550C>T due to Latif reference transcript being used). It was noted that this family had no history of pheochromocytoma's.

      GroupPresentingHPOs: N/A

      GroupHPOFreeText: Patients within this family were found to have a clinical diagnosis of VHL disease, however, the presenting phenotypes were not specified.

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: This family had no history of pheochromocytoma's.

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R113* (c.337C>T)

      LegacyVariant: p.R113* (c.550C>T)

      ClinVarID: 220414 https://www.ncbi.nlm.nih.gov/clinvar/variation/220414/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R113* (c.337C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline RefSeq:AF010238.1 cDNAposition:337 ProteinPosition:113 AminoAcidChange:ARGtoTER ClinVarID:220414 ClinVarID:Yes MutationType:stop_gained CivicName:R113*(c.337C>T) FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 28 Oct 2026

      GroupID: 184

      DiseaseAssertion: VHL

      GroupSize: Unknown

      GroupNumberMales: Unknown

      GroupNumberFemales: Unknown

      GroupEthnicity: Unknown

      GroupAgeRange: Unknown

      GroupInfo: This family group had a history of clinically confirmed VHL disease. Members of this family were found to harbour the c.481C>T variant causing a Arg161* stop gain (noted in the paper as c.694C>T due to Latif reference transcript being used). It was noted that this family had no history of pheochromocytoma's.

      GroupPresentingHPOs: N/A

      GroupHPOFreeText: Patients within this family were found to have a clinical diagnosis of VHL disease, however, the presenting phenotypes were not specified.

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: It was noted that this family had no history of pheochromocytoma's.

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      LegacyVariant: p.R161* (c.694C>T)

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline RefSeq:AF010238.1 cDNAposition:481 ProteinPosition:161 AminoAcidChange:ARGtoTER ClinVarID:2217 ClinVarID:Yes MutationType:stop_gained CivicName:R161*(c.481C>T) FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/9829911/
  29. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors.
    2
    1. ClingenBaseline 28 Oct 2026

      PatientID: 1

      KindredID: 96

      Case: Sex, Age, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0005584 (renal cell carcinoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.R167* (c.694C>T)

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Loss of heterozygosity

      MutationType: stop_gained

      CivicName: R167* (c.481C>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma Mutation:Germline RefSeq:AF010238.1 CivicName:R161*(c.481C>T) cDNAposition:481 AminoAcidChange:ARGtoTER ClinVarID:2217 MutationType:stop_gained ProteinPosition:161 ClinVarID:Yes InheritancePattern:AutosomalDominant NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 27 Oct 2026

      PatientID: 1

      KindredID: P3

      Case: Sex, Age, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: HB1 and HB2 were detected in this patient (P3/1)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.R167* (c.694C>T)

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R167* (c.481C>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma AminoAcidChange:ARGtoTER CivicName:R161*(c.481C>T) cDNAposition:481 Mutation:Germline RefSeq:AF010238.1 MutationType:stop_gained ClinVarID:2217 ProteinPosition:161 ClinVarID:Yes InheritancePattern:AutosomalDominant NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC1712486/
  30. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan
    1
    1. ClingenBaseline 28 Oct 2026
      Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected.

      GroupID/ KindredID: 55CE, 136CA

      DiseaseAssertion: VHL

      GroupSize: N/A

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: This germline familial VHL mutation was taken from the Munich, university of Freiburg and Institute of Pathology database and the Cambridge, Department of Pathology database, with an unknown number of members belonging to Family IDs 55CE and 136CA. Table 3 lists all ID and mutations associated with individuals possessing renal carcinoma, without pheochromocytoma.

      GroupPresentingHPOs: HP:0005548 (renal cell carcinoma)

      GroupHPOFreeText: Described as a VHL family with RCC, without pheochromocytoma. Other phenotypes are likely, however not detailed in this publication

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R113* (c.337C>T)

      LegacyVariant: p.R113* (c.550C>T)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 220414 https://www.ncbi.nlm.nih.gov/clinvar/variation/220414/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: This paper declares this variant is predicted to compromise the Elongin-binding site by truncating the protein.

      MutationType: stop_gained

      CivicName: R113* (c.337C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:renalcellcarcinoma ProteinPosition:113 AminoAcidChange:ARGtoTER CivicName:R113*(c.337C>T) cDNAposition:337 MutationType:stop_gained ClinVarID:220414 ClinVarID:Yes Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/8956040/
  31. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Allelic deletion and mutation of the von Hippel-Lindau (VHL) tumor suppressor gene in pancreatic microcystic adenomas.
    1
    1. ClingenBaseline 28 Oct 2026
      In 2 cases, VHL disease was documented clinically

      PatientID: 2

      KindredID: 2

      Case: M, 38Y0M, ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0001737; HP:0002666; HP:0005584 (Pancreatic cysts; pheochromocytoma; renal cell carcinoma)

      CaseHPOFreeText: Pancreatic microcyst adenomas (Pancreatic MCAs), and other VHL disease-associated tumors

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: R161* (c.694C>T)

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: See Table 2 (case 2) for LOH information

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:pancreaticcysts DiseaseEntity:pheochromocytoma DiseaseEntity:renalcellcarcinoma AssumedRefSeq:AF010238.1 Mutation:Germline CivicName:R161*(c.481C>T) cDNAposition:481 AminoAcidChange:ARGtoTER ProteinPosition:161 MutationType:missense_variant;transition ClinVarID:2217 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC1858030/
  32. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Sequencing of Von Hippel-Lindau (VHL) Gene from Genomic DNA for Mutation Detection in Italian Patients
    1
    1. ClingenBaseline 27 Oct 2026
      In patient II/1 (Figure 1) the 8684 C->T substitution causing the nonsense R161X mutation in the putative protein was found

      PatientID: II/1

      KindredID: 1

      Case: F, 33Y0M, Italian

      DiseaseAssertion: VHL

      FamilyInfo: A patient was found to have a mutation in the VHL gene (R161* (c.481C>T)), this patients parents were tested for the same mutation in VHL, but testing revealed no VHL gene mutation. Pedigree: see Figure 1.

      CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

      CaseHPOFreeText: developed cerebellar hemangioblastoma at age 33

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      LegacyVariant: R161X (8684C>T)

      ClinVar: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:DeNovoAssertion Ethnicity:Italian DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:VHL AgeOfPresentation:cerebellarhemangioblastoma:33 Mutation:Germline cDNAposition:481 ProteinPosition:161 AminoAcidChange:ARGtoTER ClinVarID:2217 MutationType:stop_gained CivicName:R161*(c.481C>T) FamilyPedigree deNovoConfirmed ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5954429/
  33. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genetic characterization and structural analysis of VHL Spanish families to define genotype–phenotype correlations
    1
    1. ClingenBaseline 27 Oct 2026

      GroupID/ KindredID: F9

      Case: Sex unknown, 20Y0M, Spanish

      DiseaseAssertion: assumed VHL

      FamilyInfo: None. Microsatellites were used to exclude nonpaternity, and the de novo character of the mutation was demonstrated in this patient. Paper says its confirmed however only discuss nonpaternity.

      CasePresentingHPOs: HP:0009711; HP:0006880; HP:0001737 (retinal capillary hemangioma, cerebellar hemangioblastoma, pancreatic cysts)

      CaseHPOFreeText: Cerebellar hemangioblastoma was found with multiple lesions. Age of onset is 20Y0M.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      Mutation:Germline Ethnicity:Spanish DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma RefSeq:AF010238.1 CivicName:R161*(c.481C>T) cDNAposition:481 ProteinPosition:161 AminoAcidChange:ARGtoTER MutationType:stop_gained ClinVarID:2217 ClinVarID:Yes ExperimentalAssay NonFamilial InheritancePattern:DeNovoAssertion inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.10309
  34. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Polyglobulia in patients with hemangioblastomas is related to tumor size but not to serum erythropoietin
    1
    1. ClingenBaseline 27 Oct 2026
      17m4717.5n18.3↑694 C/T–5.3

      PatientID: 17

      KindredID: 17

      Case: M, 47Y0M, Ethnicity Unknown

      DiseaseAssertion: Assumed VHL

      FamilyInfo: No details on family information.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      LegacyVariant: c.694C>T

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2217, https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:stop_gained AssumedRefSeq:AF010238.1 CivicName:R161*(c.481C>T) cDNAPosition:481 ProteinPosition:161 AminoAcidChange:ARGtoTER ClinVarID:Yes ClinVarID:2217 NoFamilyInfo DiseaseEntity:hemangioblastoma inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6131788/
  35. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Clinical and genetic characterization of pheochromocytoma in von Hippel-Lindau families: comparison with sporadic pheochromocytoma gives insight into natural history of pheochromocytoma
    2
    1. ClingenBaseline 26 Oct 2026

      KindredID: 4885

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666; HP:0005584; HP:0010797 (Pheochromocytoma, Renal cell carcinoma, Hemangioblastoma)

      CaseHPOFreeText: The patient was also described to have cysts but the type or location was not specified.

      CaseNotHPOs: HP:0009711; HP:0030405 (Retinal capillary hemangioma, Pancreatic endocrine tumor)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.R161* (c.694C>T)

      ClinVarID: 2217, https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Variant reported as 694, C to T (Arg to stop), assumed to be reported in legacy nomenclature (AF010238.1) and mapped to c.481C>T, p.Arg161* (NM_000551.3).

      MutationType: stop_gained; missense_variant;transition

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:481 ProteinPosition:161 AminoAcidChange:ARGtoTER ClinVarID:2217 ClinVarID:Yes MutationType:missense_variant;transition MutationType:stop_gained CivicName:R161*(c.481C>T) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 24 Oct 2026

      KindredID: 1112

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666; HP:0010797; HP:0009711 (Pheochromocytoma, Hemangioblastoma, Retinal capillary hemangioma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0030405; HP:0005584 (Pancreatic endocrine tumor, Renal cell carcinoma)

      CaseNotHPOFreeText: The patient had no cysts (type or location was not specified).

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.R161* (c.694C>T)

      ClinVarID: 2217, https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Variant reported as 694, C to T (Arg to stop), assumed to be reported in legacy nomenclature (AF010238.1) and mapped to c.481C>T, p.Arg161* (NM_000551.3).

      MutationType: stop_gained; missense_variant;transition

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:481 ProteinPosition:161 AminoAcidChange:ARGtoTER ClinVarID:2217 ClinVarID:Yes MutationType:missense_variant;transition MutationType:stop_gained CivicName:R161*(c.481C>T) NoFamilyInfo DiseaseEntity:retinalcapillaryhemangioma inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10458336/
  36. journals.lww.com journals.lww.com
    Pancreatic endocrine microadenomatosis in patients with von Hippel-Lindau disease: characterization by VHL/HIF pathway proteins expression
    1
    1. ClingenBaseline 26 Oct 2026
      Eighteen VHL patients who underwent pancreatectomy for one or several endocrine tumors at Beaujon hospital from 1997 to 2008 were retrieved from the file of VHL patients (Table 1).

      PatientID: 2

      KindredID: 2

      Case: F, 28Y0M, Ethnicity unknown

      DiseaseAssertion: pancreatic endocrine tumor

      FamilyInfo: None

      CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumor)

      CaseHPOFreeText: See Table 1 for more information

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167W (c.499C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2218 https://www.ncbi.nlm.nih.gov/clinvar/variation/2218/

      CAID: CA020450 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.499C%3ET

      gnomAD: 0.000007954 https://gnomad.broadinstitute.org/variant/3-10191506-C-T?dataset=gnomad_r2_1

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: R167W (c.499C>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:R167W(c.499C>T) cDNAposition:499 ProteinPosition:167 AminoAcidChange:ARGtoTER ClinVarID:2218 MutationType:missense_variant;transition CAID:CA020450 NoFamilyInfo ClinVarID:Yes InheritancePattern:AutosomalDominant ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    journals.lww.com/ajsp/fulltext/2009/05000/pancreatic_endocrine_microadenomatosis_in_patients.9.aspx
  37. hccpjournal.biomedcentral.com hccpjournal.biomedcentral.com
    Mutations in the von hippel-lindau tumour suppressor gene in central nervous system hemangioblastomas
    1
    1. ClingenBaseline 26 Oct 2026
      481C>T Arg161X Germline mutation

      PatientID: 51

      KindredID: 51

      Case: Age, sex, ethnicity unknown

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:hemangioblastoma AssumedRefSeq:NM_000551.3 ProteinPosition:161 CivicName:R161*(c.481C>T) cDNAposition:481 AminoAcidChange:ARGtoTER MutationType:stop_gained ClinVarID:2217 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    hccpjournal.biomedcentral.com/article/10.1186/1897-4287-2-2-93/tables/1
  38. 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 26 Oct 2026

      PatientID: 218

      KindredID: 218

      Case: Sex Unknown, 17Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Positive VHL family history.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma )

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0009711, HP:0001737, HP:0002666, HP:0000107, HP:0006770 (retinal capillary hemangioma, pancreatic cyst, pheochromocytoma, renal cyst, clear cell renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table S1, S2, S3.

      Variant: p.R161* (c.481C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: CA020408 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.481C%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161*(c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:pheochromocytoma DiseaseEntity:VHL RefSeq:NM_000551.3 Mutation:Germline MutationType:stop_gained ClinVarID:2217 ProteinPosition:161 CivicName:R161*(c.481C>T) cDNAposition:481 CAID:CA020408 Familial SupplementalData ClinVarID:Yes AminoAcidChange:ARGtoTER ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/21463266/
  39. www.frontiersin.org www.frontiersin.org
    Frequent Mutations of VHL Gene and the Clinical Phenotypes in the Largest Chinese Cohort With Von Hippel–Lindau Disease
    1
    1. ClingenBaseline 26 Oct 2026
      337

      GroupID: 10

      DiseaseAssertion: assumed VHL

      GroupSize: 6

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: Chinese

      GroupAgeRange: 47.0Y +/- 18.4Y

      GroupInfo: Clinical characteristics of 258 patients from 80 unrelated Chinese families were reported in this study. Grouped by the 21 mutations found, 2 families with 6 members total were described, and phenotypic information was given for this group.

      GroupPresentingHPOs: HP:0010797; HP:0009711; HP:0005584; HP:0001737; HP:0009715 (hemangioblastoma, retinal capillary hemangioma, renal cell carcinoma, pancreatic cysts, papillary cystadenoma of the epididymis)

      GroupHPOFreeText: 3 of the 6 members presented with CNS hemangioblastoma (mean age of 40.0Y), 3/6 had retinal capillary hemangiomas (at a mean age of 23Y), renal cell carcinoma in 3 members (at a mean age of 35.3Y), pancreatic cysts in 2 members (with age of onsets of 26 and 27Y), and 1 with a papillary cystadenoma of the epididymis genital system tumor (epididymis or broad ligament) (at age 18Y).

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: no members were found with pheochromocytomas

      GroupPreviousTesting: N/A

      PreviouslyPublished: 29330336

      SupplementalData: N/A

      Variant: p.R113* (c.337C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 220414 https://www.ncbi.nlm.nih.gov/clinvar/variation/220414/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R113* (c.337C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts DiseaseEntity:papillarycystadenomaoftheepididymis AgeOfPresentation:papillarycystadenomaoftheepididymis:18 Mutation:Germline AssumedRefSeq:NM_000551.3 ClinVarID:Yes ClinVarID:220414 MutationType:stop_gained ProteinPosition:113 cDNAposition:337 CivicName:R113*(c.337C>T) AminoAcidChange:ARGtoTER Familial FamilyCohort AgeOfPresentation:pancreaticcysts:26 AgeOfPresentation:pancreaticcysts:27 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    frontiersin.org/articles/10.3389/fgene.2019.00867/full
  40. 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 25 Oct 2026

      GroupID/ KindredID: VHL 55

      DiseaseAssertion: assumed VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: German

      GroupAgeRange: N/A

      GroupInfo: 2 patients with the given mutation belonging to VHL family 55

      GroupPresentingHPOs: HP:0009711; HP:0010797 (retinal capillary hemangioma, hemangioblastoma)

      GroupHPOFreeText: Both (2) patients have retinal angiomas (retinal capillary hemangioma) and CNS hemangioblastomas

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R113* (c.337C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.R113* (c.550C>T)

      ClinVarID: 220414 https://www.ncbi.nlm.nih.gov/clinvar/variation/220414/

      CAID: CA348491 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.337C%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R113* (c.337C>T)

      MultipleGeneVariants: N/A

      CAID:CA348491 ClinVarID:220414 MutationType:stop_gained ProteinPosition:113 CivicName:R113*(c.337C>T) cDNAposition:337 Ethnicity:German Mutation:Germline AssumedRefSeq:AF010238.1 DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma DiseaseEntity:VHL Familial AminoAcidChange:ARGtoTER ClinVarID:Yes InheritancePattern:AutosomalDominant FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s004390050206
  41. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype
    1
    1. ClingenBaseline 25 Oct 2026
      simultaneously analysed with his daughter's DNA who had a heterozygous p.(R161*) VHL mutation.

      PatientID: None

      KindredID: 8

      Case: F, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Asymptomatic

      FamilyInfo: Her father harboured the same VHL mutation and presented with bilateral renal cell carcinoma.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: The patient had bilateral renal cell carcinoma at age 48.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: She had a heterozygous p.R161* mutation.

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:asymptomatic Mutation:Germline MutationType:stop_gained Familial ProteinPosition:161 CivicName:R161*(c.481C>T) cDNAposition:481 RefSeq:NM_000551.3 ClinVarID:Yes ClinVarID:2217 AminoAcidChange:ARGtoTER inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4135403/
  42. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma
    1
    1. ClingenBaseline 25 Oct 2026

      PatientID: V3

      KindredID: V3

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText:N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 8956040

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:VHL NoFamilyInfo AssumedRefSeq:NM_000551.3 ProteinPosition:161 CivicName:R161*(c.481C>T) cDNAposition:481 MutationType:stop_gained ClinVarID:2217 ClinVarID:Yes AminoAcidChange:ARGtoTER inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/9829912/
  43. eje.bioscientifica.com eje.bioscientifica.com
    Germline VHL gene mutations in Hungarian families with von Hippel–Lindau disease and patients with apparently sporadic unilateral pheochromocytomas
    1
    1. ClingenBaseline 24 Oct 2026
      BIP–27–19Renal cysts, pancreatic cysts, and polyglobulia1

      PatientID: None

      KindredID: B

      Case: M, 27Y0M, Hungarian

      DiseaseAssertion: VHL

      FamilyInfo: The parents of the patient rejected clinical and genetic screening, whereas clinical screening in a younger brother of the index patient revealed no abnormality.

      CasePresentingHPOs: HP:0009711, HP:0000107, HP:0001737, HP:0001901, HP:0006880 (retinal capillary hemangioma, renal cyst, pancreatic cysts, polycythemia, cerebellar hemangioblastoma)

      CaseHPOFreeText: Retina involvement presented at age 19. The patient had cerebellar hemangioma as well as renal and pancreatic cysts at the age of 27 years.

      CaseNotHPOs: HP:0005584, HP:0002666 (renal cell carcinoma, pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline Ethnicity:Hungarian AssumedRefSeq:NM_000551.3 NoFamilyInfo DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts DiseaseEntity:polycythemia DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:RetinalCapillaryHemangioma:19 AgeOfPresentation:cerebellarhemangioblastoma:27 AgeOfPresentation:renalcyst:27 AgeofPresentation:pancreaticcysts:27 CivicName:R161*(c.481C>T) cDNAposition:481 ProteinPosition:161 MutationType:stop_gained ClinVarID:2217 ClinVarID:Yes AminoAcidChange:ARGtoTER inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    eje.bioscientifica.com/view/journals/eje/161/3/495.xml
  44. onlinelibrary-wiley-com.uhn.idm.oclc.org onlinelibrary-wiley-com.uhn.idm.oclc.org
    Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification
    1
    1. ClingenBaseline 23 Oct 2026
      20 c.481C>T p.Arg161X p.R161X Familial VHL

      GroupID/ KindredID: 20

      Case: Age, Sex, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Familial VHL; One registrant belonging to family 20 has the germline VHL mutation of c.481C>T.

      CasePresentingHPOs: HP:0009711; HP:0000107; HP:0001737 (retinal capillary hemangioma, renal cyst, pancreatic cysts)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0010797; HP:0002666; HP:0005584 (hemangioblastoma, pheochromocytoma, renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: Previously reported, HGMD (Human Gene Mutation Database: http://uwcmml1s.uwcm.ac.uk/uwcm/mg/search/120488.html)

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      RefSeq:NM_000551.2 Mutation:Germline MutationType:stop_gained Familial ProteinPosition:161 cDNAposition:481 CivicName:R161*(c.481C>T) AminoAcidChange:ARGtoTER CAID:CA020408 ClinVarID:2217 DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts ClinVarID:Yes InheritancePattern:AutosomalDominant ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary-wiley-com.uhn.idm.oclc.org/doi/full/10.1111/j.1399-0004.2007.00827.x
  45. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations
    2
    1. ClingenBaseline 23 Oct 2026
      221519N—N—NNYYNc.481C>T

      PatientID: 22

      KindredID: 15

      Case: Sex Unknown, 19Y0M, Brazilian (Latino/Admixed American)

      DiseaseAssertion: VHL

      FamilyInfo: none

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

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0002668, HP:0002666; HP:0009711; HP:0030405; HP:0005584; HP:0000107 (Paraganglioma, pheochromocytoma, retinal capillary hemangioma, pancreatic endocrine tumor, renal cell carcinoma, renal cyst)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts ProteinPosition:161 cDNAposition:481 CivicName:R161*(c.481C>T) MutationType:stop_gained AminoAcidChange:ARGtoTER ClinVarID:2217 ClinVarID:Yes NoFamilyInfo Ethnicity:Brazilian Ethnicity:Latino/AdmixedAmerican inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      312232N—N—YYYYNc.481 C>T

      PatientID: 31

      KindredID: 22

      Case: Sex Unknown, 32Y0M, Brazilian (Latino/Admixed American)

      DiseaseAssertion: VHL

      FamilyInfo: stated as a familial VHL. 1 other family member (patient 30) with that same mutation was stated with an age of 56. This patient has RCC, renal cysts, pancreatic cysts, and CNS hemangioblastoma and retinal capillary hemangioblastomas.

      CasePresentingHPOs: HP:0010797; HP:0001737; HP:0005584; HP:0000107 (hemangioblastoma, pancreatic cyst, renal cell carcinoma, renal cyst)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0002668, HP:0002666; HP:0009711; HP:0030405; (Paraganglioma, pheochromocytoma, retinal capillary hemangioma, pancreatic endocrine tumor)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcyst DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts Familial ProteinPosition:161 CivicName:R161*(c.481C>T) cDNAposition:481 AminoAcidChange:ARGtoTER ClinVarID:2217 ClinVarID:Yes Mutation:Germline AssumedRefSeq:NM_000551.3 InheritancePattern:AutosomalDominant MutationType:stop_gained Ethnicity:Brazilian Ethnicity:Latino/AdmixedAmerican inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6735756/
  46. 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 23 Oct 2026
      1 France c.337C>T p.Arg113*

      GroupID: 12

      Case: Sex, Age, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: Unknown. 1 registrant from France was found with this variant; no family info was mentioned

      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.R113* (c.337C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 220414 https://www.ncbi.nlm.nih.gov/clinvar/variation/220414/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R113* (c.337C>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:endolymphaticsactumor Mutation:Germline RefSeq:NM_000551.3 cDNAposition:337 ProteinPosition:113 AminoAcidChange:ARGtoTER CivicName:R113*(c.337C>T) MutationType:stop_gained CAID:CA348491 ClinVarID:220414 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      3 France c.481C>T p.Arg161* Argentina

      GroupID: 24

      DiseaseAssertion: VHL

      GroupSize: 3

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Three registrants from either France or Argentina have the same mutation of c.481C>T.

      GroupPresentingHPOs: HP:0030393 (Endolymphatic sac tumor)

      GroupHPOFreeText: N/A

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:endolymphaticsactumor Mutation:Germline RefSeq:NM_000551.3 ProteinPosition:161 cDNAposition:481 AminoAcidChange:ARGtoTER MutationType:stop_gained CivicName:R161*(c.481C>T) CAID:CA020399 ClinVarID:2217 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/full/10.1002/hed.24067
  47. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype-phenotype correlation in von Hippel-Lindau disease
    1
    1. ClingenBaseline 22 Oct 2026
      2 (100)

      GroupID: 13

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: a retrospective cohort study from an eye centre in Germany involved 148 VHL patients and their genetic data involved in retinal capillary hemangiomas.

      GroupPresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      GroupHPOFreeText: These 2 patients with a R161* (c.481C>T) mutation had retinal capillary hemangiomas. Other VHL manifestations were discussed but not per- variant.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      LegacyVariant: N/A

      GroupProblemVariantFreeText: N/A

      ClinVarID: 2217, https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 MutationType:stop_gained ProteinPosition:161 CivicName:R161*(c.481C>T) cDNAposition:481 AminoAcidChange:ARGtoTER ClinVarID:2217 ClinVarID:Yes NoFamilyInfo DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:VHL SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1111/aos.14843
  48. iovs.arvojournals.org iovs.arvojournals.org
    Retinal Hemangioblastoma in von Hippel-Lindau Disease: A Clinical and Molecular Study
    1
    1. ClingenBaseline 22 Oct 2026
      481C→T Ts Exon 3 161 CGA R R161X

      GroupID: 43

      DiseaseAssertion: VHL

      GroupSize: 8

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: French

      GroupAgeRange: N/A

      GroupInfo: 8 patients are listed with this mutation; any relation is unknown.

      GroupPresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      GroupHPOFreeText: 3 members are stated to have retinal HBs. Other manifestations are possible but not clear.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: the other 5 patients are said to not have retinal HBs

      GroupPreviousTesting: N/A

      PreviouslyPublished: Possibly published in PMID:15300849

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL NoFamilyInfo ClinVarID:Yes ClinVarID:2217 AminoAcidChange:ARGtoTER MutationType:stop_gained ProteinPosition:161 cDNAposition:481 CivicName:R161*(c.481C>T) Ethnicity:French inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    iovs.arvojournals.org/article.aspx
  49. link.springer.com link.springer.com
    Conservative management of endolymphatic sac tumors in von Hippel–Lindau disease: case report
    1
    1. ClingenBaseline 21 Oct 2026
      Patient 1 The first patient had no familial history of VHL disease and was 21 years old when he experienced a sudden right hearing loss. The resulting cophosis was irreversible. The radiological work-up revealed an osteolytic mass of the right temporal bone of heterogeneous signal on both T1- and T2-weighted images (Fig. 1), consistent with the diagnosis of endolymphatic sac tumor. The tumor invaded the otic capsule and the petrous apex but did not extend in the cerebellopontine angle. Its mean tumor diameter (MTD) at diagnosis was approximately 2.6 cm (formula—MTD = (length×width×height)1/3MTD = (length×width×height)1/3 {\hbox{MTD = }}{\left( {{\hbox{length}} \times {\hbox{width}} \times {\hbox{height}}} \right)^{{1/3}}} ) [16]. The rest of the neurological exam was normal and a conservative management was decided. During follow-up, the patient suffered from other manifestations of VHL disease: retinal and central nervous system hemangioblastomas, pheochromocytoma, renal tumors, and pancreatic cysts. The germline mutation of the VHL gene was also identified (c.337C>T, p.Arg113X). After 20 years of radiological surveillance, the size of his endolymphatic sac tumor remains stable (Fig. 2). Apart from his deafness, the patient does not suffer from any vestibular symptoms and his facial function is normal (House and Brackmann grade I).

      PatientID: 1

      KindredID: 1

      Case: M, 41Y0M, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: No family history of VHL disease.

      CasePresentingHPOs: HP:0030393; HP:0009711; HP:0010797; HP:0002666; HP:0009726; HP:0001737 (endolymphatic sac tumor, retinal capillary hemangioma, hemangioblastoma, pheochromocytoma, renal neoplasm, pancreatic cysts)

      CaseHPOFreeText: patient was 21 years old when he experienced a sudden right hearing loss (cophosis). During a follow-up, the patient suffered from other manifestations of VHL disease mentioned above.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R113* (c.337C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 220414 https://www.ncbi.nlm.nih.gov/clinvar/variation/220414/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R113*(c.337C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:endolymphaticsactumor DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma DiseaseEntity:pheochromocytoma DiseaseEntity:renalneoplasm DiseaseEntity:pancreaticcysts AgeOfPresentation:endolymphaticsactumor:21 Mutation:Germline AssumedRefSeq:NM_000551.3 ClinVarID:220414 ClinVarID:Yes ProteinPosition:113 CivicName:R113*(c.337C>T) cDNAposition:337 AminoAcidChange:ARGtoTER MutationType:stop_gained NonFamilial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s00701-010-0873-5
  50. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype-phenotype correlations in Chinese von Hippel–Lindau disease patients
    1
    1. ClingenBaseline 21 Oct 2026

      PatientID: 162

      KindredID: 62

      Case: F, 14Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The patient's mother presented with a CNS hemangioblastoma at age 28, and a renal cell carcinoma, multiple pancreatic cysts/tumors, and a pheochromocytoma at age 41.

      CasePresentingHPOs: HP:0010797; HP:0001737; HP:0001732 (Hemangioblastoma, Pancreatic cysts, Abnormality of the pancreas)

      CaseHPOFreeText: The proband presented with a CNS hemangioblastoma and multiple pancreatic cysts/tumors at age 14.

      CaseNotHPOs: HP:0009711; HP:0005584; HP:0002666 (Retinal capillary hemangioma, Renal cell carcinoma, Pheochromocytoma) )

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: This cohort was also published in a later paper by Wang et al., 2018 (PMID: 29330336).

      SupplementalData: Patient and family genotype-phenotype information is listed in Supplementary Table 1.

      Variant: p.R161* (c.481C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2217, https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts DiseaseEntity:abnormalityofthepancreas AgeOfPresentation:hemangioblastoma:14 AgeOfPresentation:pancreaticcysts:14 AgeOfPresentation:abnormalityofthepancreas:14 AssumedRefSeq:NM_000551.3 cDNAposition:481 ProteinPosition:161 MutationType:missense_variant;transition SupplementalData ClinVarID:Yes ClinVarID:2217 PreviouslyPublished:29330336 AminoAcidChange:ARGtoTER CivicName:R161*(c.481C>T) Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5503545/
  51. academic-oup-com.proxy1.lib.uwo.ca academic-oup-com.proxy1.lib.uwo.ca
    Natural History of Supratentorial Hemangioblastomas in von Hippel-Lindau Disease
    1
    1. ClingenBaseline 21 Oct 2026

      PatientID: 8

      KindredID: 8

      Case: M,35Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: Thirteen patients with a supratentorial hemangioblastoma.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: The patient had a meckel cave hemangioblastoma at age 28. The patient had a papillary edema and pituitary stalk hemangioblastoma at age 34. The patient died of VHL disease.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline NoFamilyInfo DiseaseEntity:hemangioblastoma AgeOfPresentation:hemangioblastoma:28 AgeOfPresentation:hemangioblastoma:34 CivicName:R161*(c.481C>T) cDNAposition:481 ProteinPosition:161 ClinVarID:2217 ClinVarID:Yes MutationType:stop_gained AssumedRefSeq:NM_000551.3 AminoAcidChange:ARGtoTER inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    academic-oup-com.proxy1.lib.uwo.ca/neurosurgery/article/67/3/577/2556950
  52. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Anorexia as the first clinical manifestation of von Hippel-Lindau syndrome
    1
    1. ClingenBaseline 21 Oct 2026
      Case reportA 19-year-old woman was referred to our psychiatric inpatient service in June 2017, with the suspicion of AN. At the time of hospital admission, the patient's weight was 28 kg, her height was 1.55 m and her body mass index (BMI) was 11.6 kg/m2. The patient had had no menstrual cycle for at least 1 year. Over the previous 2 years, her food intake had progressively diminished, without an immediately apparent cause. The patient was hungry but felt satiated after ingesting only a small amount of food, and had difficulty swallowing.

      PatientID: N/A (case)

      KindredID: 1

      Case: F, 19Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Non-consanguineous parental relationship; second child; no mention of VHL in the family.

      CasePresentingHPOs: HP:0010797; HP:0001713; HP:0002039; HP:0001824 (Hemangioblastoma; pancreatic cysts; anorexia; weight loss)

      CaseHPOFreeText: Healthy from birth, this patient was referred to a psychiatric inpatient at 19Y with the weight loss and weakness, and the suspicion on anorexia nervosa. AN was not met according to the DSM-5 or ICD-10 (despite anorexic tendencies). There were also no tendencies towards an eating disorder. Patient developed progressive gait abnormality, along with bilateral dysmetria. MRI revealed a massive lesion with vascular characteristics suggestive of a HB in the fourth ventricle causing hypertensive hydrocephalus. Abdominal CT scan revealed cystic lesions throughout the parenchymatous portion of the pancreas, suspected to be related to VHLs. Together, supported the diagnosis of VHL. The patient underwent surgery of the brain, and radiotherapy which proved to work in small degrees.

      CaseNotHPOs: HP:0002666 (pheochromocytoma)

      CaseNotHPOFreeText: All blood tests, urinalysis and chest X‑ray were unremarkable. She also had no pheochromocytoma.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts DiseaseEntity:anorexia AgeOfPresentation:hemangioblastoma:19 AgeOfPresentation:pancreaticcysts:19 AssumedRefSeq:NM_000551.3 cDNAposition:481 CivicName:R161*(c.481C>T) AminoAcidChange:ARGtoTER MutationType:stop_gained ProteinPosition:161 ClinVarID:2217 ClinVarID:Yes NonFamilial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/32974018/