22 Matching Annotations
  1. Last 7 days
  2. www.karger.com www.karger.com
    Title Page / Table of Contents
    1
    1. ClingenBaseline 04 Nov 2026
      Horm Res Paediatr 2016;86(suppl 1):I-IV https://doi.org/10.1159/000449141

      PatientID: 1 (son)

      KindredID: 1

      Case: M, 9Y0M, Ethnicity Unknown

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: Familial isolated pheochromocytoma is described as the father is a carrier of the same mutation: R79G (c.235C>G).

      CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

      CaseHPOFreeText: history of fever, profuse sweating, intense headache and 190/120 blood pressure. He was currently asymptomatic with normal hormonal controls after complete tumor resection of his right adrenals

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R79G (c.235C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 411988 https://www.ncbi.nlm.nih.gov/clinvar/variation/411988/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: N/A

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant AssumedRefSeq:NM_000551.3 Mutation:Germline cDNAposition:235 ProteinPosition:79 AminoAcidChange:ARGtoGLY MutationType:missense_variant;transversion ClinVarID:411988 ClinVarID:Yes CivicName:N/A Familial DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:9 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    karger.com/Article/Abstract/449141
  3. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients
    4
    1. ClingenBaseline 04 Nov 2026
      missense variants

      PatientID: 63

      KindredID: 63

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

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

      CaseHPOFreeText: N/A

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

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

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

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: R107G (c.319C>G)

      MultipleGeneVariants: N/A

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

      PatientID: 62

      KindredID: 62

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0100634 (Neuroendocrine neoplasm)

      CaseHPOFreeText: N/A

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

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

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

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: R107G (c.319C>G)

      MultipleGeneVariants: N/A

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

      PatientID: 61

      KindredID: 61

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

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

      CaseHPOFreeText: N/A

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

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

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

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: R107G (c.319C>G)

      MultipleGeneVariants: N/A

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

      PatientID: 60

      KindredID: 60

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

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

      CaseHPOFreeText: N/A

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

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

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

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: R107G (c.319C>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:neuroendocrineneoplasm DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:clearcellrenalcellcarcinoma CivicName:R107G(c.319C>G) cDNAposition:319 ProteinPosition:107 AminoAcidChange:ARGtoGLY MutationType:missense_variant;transversion ClinVarID:43599 ClinVarID:Yes NoFamilyInfo Mutation:Germline RefSeq:NM_000551.3 SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/full/10.1111/cge.13613
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Somatic mosaicism in von Hippel-Lindau Disease
    2
    1. ClingenBaseline 04 Nov 2026
      von Hippel-Lindau (VHL) disease is an autosomal dominant familial cancer syndrome predisposing to the development of retinal and central nervous system haemangioblastomas, pheochromocytomas, renal and pancreatic cancer. In the course of a molecular analysis conducted to detect germline mutations of this gene in von Hippel-Lindau patients and individuals affected by sporadic tumors, we have identified a case of somatic mosaicism in the asymptomatic mother of a VHL patient who was subsequently diagnosed with pheochromocytoma. This is the first report providing molecular evidence of somatic mosaicism in von Hippel-Lindau disease. Mosaicism could provide some genetic explanation for the clinical heterogeneity and variable severity of the VHL phenotype, and should be considered, as a possible event when evaluating sporadic cases of VHL or patients with isolated VHL-related tumors. Hum Mutat 15:114, 2000.

      PatientID: mother

      KindredID: 1

      Case: F, 48Y0M, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: The 50 year-old husband and 22 year-old sister were asymptomatic. Her 26 year-old son displayed pheochromocytoma, renal cysts, cerebellar hemangioblastoma, and retinal capillary hemangioma. He presented with the c.481C>G mutation.

      CasePresentingHPOs: HP:0000107; HP:0002666 (renal cyst; pheochromocytoma)

      CaseHPOFreeText: Originally referred to as referred to as totally asymptomatic, until testing on her son. A renal ultrasound revealed the presence of bilateral micro-cysts; a CT scan detected a pheochromocytoma that was subsequently removed. Both were clinically silent.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161G (c.481C>G)

      LegacyVariant: p.R161G (c.694C>G)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 618484 https://www.ncbi.nlm.nih.gov/clinvar/variation/618484

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Despite the identical bandshifting to her son, there were differences in the intensity of the aberrant bands (Fig.1a), suggested that the mother could be a somatic mosaic. To test this hypothesis the molecular analysis was repeated on tissues of different embryonic origin. DNA extracted from the mother's buccal mucosa showed higher levels of intensity of the same altered bands (Fig. 1b). The amplification products of exon 3 of the two mutated individuals were subjected to Fok I digestions that further confirmed the presence of mosaicism in the mother, as evidenced by the lower intensity of the fragments generated by the newly created restriction site (Fig.2).

      MutationType: missense_variant; transversion

      CivicName: R161G (c.481C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant AssumedRefSeq:AF010238.1 DiseaseEntity:renalcyst DiseaseEntity:pheochromocytoma CivicName:R161G(c.481C>G) cDNAposition:481 ProteinPosition:161 AminoAcidChange:ARGtoGLY MutationType:missense_variant;transversion ClinVarID:618484 ClinVarID:Yes Familial FamilyPedigree Mutation:Germline Mutation:Somatic inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 02 Nov 2026
      von Hippel-Lindau (VHL) disease is an autosomal dominant familial cancer syndrome predisposing to the development of retinal and central nervous system haemangioblastomas, pheochromocytomas, renal and pancreatic cancer. In the course of a molecular analysis conducted to detect germline mutations of this gene in von Hippel-Lindau patients and individuals affected by sporadic tumors, we have identified a case of somatic mosaicism in the asymptomatic mother of a VHL patient who was subsequently diagnosed with pheochromocytoma. This is the first report providing molecular evidence of somatic mosaicism in von Hippel-Lindau disease. Mosaicism could provide some genetic explanation for the clinical heterogeneity and variable severity of the VHL phenotype, and should be considered, as a possible event when evaluating sporadic cases of VHL or patients with isolated VHL-related tumors. Hum Mutat 15:114, 2000.

      PatientID: 1 (case)

      KindredID: 1

      Case: M, 26Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: The 50 year-old father, 48 year-old mother and 22 year-old sister were asymptomatic. All were tested which confirmed the presence of mosaicism in the mother. This was said to be somatic mosaicism. She also presented with clinically silent renal cysts and pheochromocytoma.

      CasePresentingHPOs: HP:0002666; HP:0000107; HP:0006880; HP:0009711 (pheochromocytoma; renal cyst; cerebellar hemangioblastoma; retinal capillary hemangioma)

      CaseHPOFreeText: At 26Y, he had cerebellar hemangioblastoma, retinal hemangioma and multiple bilateral renal cysts. He also had bilateral pheochromocytomas which were removed.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161G (c.481C>G)

      LegacyVariant: p.R161G (c.694C>G)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 618484 https://www.ncbi.nlm.nih.gov/clinvar/variation/618484

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: This mutation created a new FokI restriction site.

      MutationType: missense_variant; transversion

      CivicName: R161G (c.481C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:renalcyst DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline CivicName:R161G(c.481C>G) cDNAposition:481 AminoAcidChange:ARGtoGLY MutationType:missense_variant;transversion ClinVarID:618484 ClinVarID:Yes Familial FamilyPedigree AssumedRefSeq:AF010238.1 ProteinPosition:161 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10612832/
  5. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype–phenotype correlations in von Hippel-Lindau disease
    1
    1. ClingenBaseline 03 Nov 2026

      GroupID: 33

      DiseaseAssertion: assumed VHL

      GroupSize: 3

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: 3 of the 573 patients discussed in this paper were found to have the following mutation belonging to 2 families altogether. 

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

      GroupHPOFreeText: 1 patient had retinal angiomas diagnosed at age 18Y, 3 had cerebellar hemangioblastomas diagnosed at mean age of 18Y, and 1 had RCC diagnosed at 50Y

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S1.

      Variant: p.R176Gfs*26 (c.526delA) 

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625257 https://www.ncbi.nlm.nih.gov/clinvar/variation/625257/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: R176fs (c.526del) 

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:retinalcapillaryhemangioma:18 AgeOfPresentation:renalcellcarcinoma:50 cDNAposition:526 ProteinPosition:176 ClinVarID:625257 ClinVarID:Yes MutationType:minus_1_frameshift_variant CivicName:R176fs(c.526del) AminoAcidChange:ARGtoGLY ExperimentalAssay SupplementalData RefSeq:NM_000551.2 InheritancePattern:AutosomalDominant Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.20385
  6. jnnp.bmj.com jnnp.bmj.com
    The impact of molecular genetic analysis of theVHL gene in patients with haemangioblastomas of the central nervous system
    1
    1. ClingenBaseline 03 Nov 2026
      nt 694 C/G 161 Arg→Gly R161G Missense 1

      PatientID: 31

      GroupID/ KindredID: 31

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: other phenotypes unknown.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161G (c.481C>G)

      LegacyVariant: p.R161G (c.694C>G)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 618484 https://www.ncbi.nlm.nih.gov/clinvar/variation/618484/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: R161G (c.481C>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:hemangioblastoma AssumedRefSeq:AF010238.1 Mutation:Germline ClinVarID:Yes NoFamilyInfo ClinVarID:618484 ProteinPosition:161 cDNAposition:481 CivicName:R161G(c.481C>G) AminoAcidChange:ARGtoGLY MutationType:missense_variant;transversion inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    jnnp.bmj.com/content/jnnp/67/6/758.full.pdf
  7. jmg-bmj-com.uhn.idm.oclc.org jmg-bmj-com.uhn.idm.oclc.org
    Evidence for genetic anticipation in vonHippel-Lindau syndrome
    1
    1. ClingenBaseline 02 Nov 2026

      PatientID: 2 (Sister)

      KindredID: 7

      Case: F, 11Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

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

      CasePresentingHPOs: HP:0001732 (Abnormality of the pancreas)

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

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table 1.

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: R107G (c.319C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:abnormalityofthepancreas AgeOfPresentation:abnormalityofthepancreas:9 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:319 ProteinPosition:107 AminoAcidChange:ARGtoGLY ClinVarID:43599 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:R107G(c.319C>G) Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    jmg-bmj-com.uhn.idm.oclc.org/content/55/6/395
  8. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A malignant pheochromocytoma in a child with von Hippel-Lindau mutation
    1
    1. ClingenBaseline 02 Nov 2026
      the patient’s mother aged 38 was diagnosed with bilateral pheochromocytoma resected when she was the age of 18 years. She presented several relapses, the most recent one at the age of 32, when she was also diagnosed with cerebral angioma. Genetic testing revealed the presence of the VHL c 244 C>G (p. Arg 82 Gly) heterozygote mutation, while the tests for RET, SDHB, SDHC and SDHD were negative.

      PatientID: None

      KindredID: 1

      Case: F, 38Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo:

      CasePresentingHPOs: HP:0002666; HP:0001028 (Pheochromocytoma, Hemangioma)

      CaseHPOFreeText: Was diagnosed with bilateral pheochromocytoma resected when she was the age of 18 years. She presented several relapses, the most recent one at the age of 32, when she was also diagnosed with cerebral angioma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, SDHB, SDHC, SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R82G (c.244C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 1297059, https://www.ncbi.nlm.nih.gov/clinvar/variation/1297059/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: R82G (c.244C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:hemangioma AgeOfPresentation:pheochromocytoma:18 AgeOfPresentation:hemangioma:32 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:244 ProteinPosition:82 AminoAcidChange:ARGtoGLY ClinVarID:1297059 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:R82G(c.244C>G) PreviousTesting:RET/SDHB/SDHC/SDHD Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5536217/
  9. 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
    1
    1. ClingenBaseline 30 Oct 2026

      GroupID: 4339

      DiseaseAssertion: VHL

      GroupSize: 4

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Each group represents a family.

      GroupPresentingHPOs: HP:0010797; HP:0002666; HP:0005584; HP:0009711 (Hemangioblastoma, Pheochromocytoma, Renal cell carcinoma, Retinal capillary hemangioma)

      GroupHPOFreeText: 1/4 members with pheochromocytoma, 1/4 members with CNS hemangioblastoma, 4/4 with renal carcinoma, 1/4 with retinal angioma and 1/4 with cysts. Diagnosed as a VHL Type 2B family.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R176Gfs*26 (c.526del)

      LegacyVariant: c.739delA

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625257, https://www.ncbi.nlm.nih.gov/clinvar/variation/625257/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Variant reported as 739 del A (Frameshift), assumed to be reported in legacy nomenclature (AF010238.1) and mapped to c.526del, p.Arg176Glyfs*26 (NM_000551.3).

      MutationType: deletion; minus_1_frameshift_variant

      CivicName: R176Gfs*26 (c.526del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:pheochromocytoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:526 ProteinPosition:176 AminoAcidChange:ARGtoGLY ClinVarID:625257 ClinVarID:Yes MutationType:deletion MutationType:minus_1_frameshift_variant CivicName:R176Gfs*26(c.526del) Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10458336/
  10. journals.lww.com journals.lww.com
    Six weeks into the 2019 coronavirus disease (COVID-19)... : Chinese Medical Journal
    1
    1. ClingenBaseline 30 Oct 2026
      c.319C>G [p.Arg107Gly]

      PatientID: Father (of proband)

      KindredID: 7

      Case: M, 80Y0M, Chinese

      DiseaseAssertion: renal cell carcinoma

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

      CasePresentingHPOs: HP:0005584 (renal cell carcinoma)

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

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: R107G (c.319C>G)

      MultipleGeneVariants: N/A

      AgeOfPresentation:renalcellcarcinoma:80 DiseaseEntity:renalcellcarcinoma Ethnicity:Chinese Mutation:Germline RefSeq:NM_000551.2 CivicName:R107G(c.319C>G) cDNAposition:319 ProteinPosition:107 AminoAcidChange:ARGtoGLY MutationType:missense_variant;transversion ClinVarID:Yes ClinVarID:43599 ExperimentalAssay Familial InheritancePattern:AutosomalDominant inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    journals.lww.com/cmj/fulltext/2007/11020/management_of_solid_renal_tumour_associated_with.22.aspx
  11. Oct 2026
  12. erc.bioscientifica.com erc.bioscientifica.com
    Calculating optimal surveillance for detection of von Hippel–Lindau-related manifestations
    1
    1. ClingenBaseline 29 Oct 2026
      c.358A>G1 (1)115HBsc

      GroupID: None

      Case: Sex Unknown, 15Y0M, Dutch

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0009713 (Spinal hemangioblastoma)

      CaseHPOFreeText: Diagnosed with VHL Type 1.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 31087189

      SupplementalData: N/A

      Variant: p.R120G (c.358A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223199, https://www.ncbi.nlm.nih.gov/clinvar/variation/223199/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R120G (c.358A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Dutch DiseaseEntity:VHL DiseaseEntity:spinalhemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:358 ProteinPosition:120 AminoAcidChange:ARGtoGLY ClinVarID:223199 MutationType:missense_variant;transition CivicName:R120G(c.358A>G) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    erc.bioscientifica.com/view/journals/erc/21/1/63.xml
  13. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Retinal Vascular Proliferation as an Ocular Manifestation of von Hippel-Lindau Disease
    1
    1. ClingenBaseline 29 Oct 2026
      7/34/MClinical, geneticSingle-nucleotide deletion at nucleotide 739, protein truncating mutation++−+−

      PatientID: 7

      KindredID: 7

      Case: F, 34Y0M, Caucasian

      DiseaseAssertion: VHL

      FamilyInfo: Positive VHL family history.

      CasePresentingHPOs: HP:0001732, HP:0030393, HP:0007850, HP:0012210 (abnormality of the pancreas, retinal vascular proliferation, abnormal renal morphology)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0002011 (Morphological central nervous system abnormality

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData:N/A

      Variant: p.R176G (c.526delA)

      LegacyVariant: p.R176G (c.739delA)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625257 https://www.ncbi.nlm.nih.gov/clinvar/variation/625257/

      CAID: CA16602180 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.526delA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: R176G (c.526delA)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Familial DiseaseEntity:abnormalityofthepancreas DiseaseEntity:abnormalrenalmorphology DiseaseEntity:Retinalvascularproliferation Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:526 ProteinPosition:176 AminoAcidChange:ARGtoGLY ClinVarID:625257 CAID:CA16602180 Ethnicity:Caucasian CivicName:R176G(c.526delA) MutationType:minus_1_frameshift_variant ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC2443701/
  14. jmg-bmj-com.uhn.idm.oclc.org jmg-bmj-com.uhn.idm.oclc.org
    Evidence for genetic anticipation in vonHippel-Lindau syndrome
    2
    1. ClingenBaseline 28 Oct 2026

      PatientID: 1 (Proband)

      KindredID: 7

      Case: M, 12Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

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

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: The patient presented pheochromocytoma (4Y).

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table 1.

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: R107G (c.319C>G)

      MultipleGeneVariants: N/A

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

      PatientID: 11 (Father)

      KindredID: 7

      Case: M, 39Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

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

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

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

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table 1.

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: R107G (c.319C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:abnormalityofthekidney DiseaseEntity:abnormalityofthepancreas AgeOfPresentation:pheochromocytoma:21 AgeOfPresentation:abnormalityofthekidney:33 AgeOfPresentation:abnormalityofthepancreas:33 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:319 ProteinPosition:107 AminoAcidChange:ARGtoGLY ClinVarID:43599 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:R107G(c.319C>G) Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    jmg-bmj-com.uhn.idm.oclc.org/content/55/6/395
  15. 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: 137CA

      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 Cambridge, Department of Pathology database, with an unknown number of members belonging to Family ID 137CA. Table 4 lists all ID and mutations associated with individuals with pheochromocytoma.

      GroupPresentingHPOs: HP:0002666 (pheochromocytoma)

      GroupHPOFreeText: Described as a VHL family with pheochromocytoma. Other phenotypes are likely, including renal cell carcinoma, however not detailed here.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167G (c.499C>G)

      LegacyVariant: p.R167G (c.712C>G)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2219 https://www.ncbi.nlm.nih.gov/clinvar/variation/2219

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: This paper declares this variant is predicted to compromise the Elongin-binding site by location between codons 157 and 189.

      MutationType: missense_variant; transversion

      CivicName: R167G (c.499C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:pheochromocytoma ProteinPosition:167 CivicName:R167W(c.499C>G) cDNAposition:499 AminoAcidChange:ARGtoGLY MutationType:missense_variant;transversion ClinVarID:2219 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/
  16. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype-phenotype correlation in von Hippel-Lindau disease
    1
    1. ClingenBaseline 26 Oct 2026
      1 (25)

      GroupID: 29b

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

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

      CasePresentingHPOs: N/A

      CaseHPOFreeText: This was 1 of 4 patients discussed with this mutation. The individual did NOT have retinal hemangiomas; Other VHL manifestations were discussed but not per- variant.

      CaseNotHPOs: HP:0009711 (retinal capillary hemangioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes - Supplementary Table S1

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: R107G (c.319C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL NoFamilyInfo SupplementalData CivicName:R107G(c.319C>G) cDNAposition:319 ProteinPosition:107 AminoAcidChange:ARGtoGLY MutationType:missense_variant;transversion CllinVarID:43599 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1111/aos.14843
  17. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma
    1
    1. ClingenBaseline 24 Oct 2026
      variants of VHL in 18 probands

      PatientID: 2

      KindredID: 2

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: No family information provided.

      CasePresentingHPOs: HP:0002666; HP:0002668 (Pheochromocytoma; paraganglioma)

      CaseHPOFreeText: Patient had pheochromocytoma and/or paraganglioma (table 2).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R79G (c.235C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 411988, https://www.ncbi.nlm.nih.gov/clinvar/variation/411988/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant, transversion

      CivicName: R79G (c.235C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transversion RefSeq:NM_000551.3 DiseaseEntity:paraganglioma DiseaseEntity:pheochromocytoma CivicName:R79G(c.235C>G) cDNAPosition:235 ProteinPosition:79 AminoAcidChange:ARGtoGLY ClinVarID:Yes ClinVarID:411988 NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC8394264/
  18. journals.lww.com journals.lww.com
    Six weeks into the 2019 coronavirus disease (COVID-19)... : Chinese Medical Journal
    1
    1. ClingenBaseline 23 Oct 2026
      c.319C>G [p.Arg107Gly]

      PatientID: 7

      KindredID: 7

      Case: 55Y0M, Sex unknown, Chinese

      DiseaseAssertion: VHL

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

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: CNS hemangioblastoma first presenting at 55Y

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: R107G (c.319C>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma AgeOfPresentation:hemangioblastoma:55 Mutation:Germline Ethnicity:Chinese ClinVarID:43599 ClinVarID:Yes ExperimentalAssay Familial MutationType:missense_variant;transversion CivicName:R107G(c.319C>G) AminoAcidChange:ARGtoGLY ProteinPosition:107 cDNAposition:319 RefSeq:NM_000551.2 InheritancePattern:AutosomalDominant inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    journals.lww.com/cmj/fulltext/2007/11020/management_of_solid_renal_tumour_associated_with.22.aspx
  19. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Characterization of endolymphatic sac tumors and von Hippel–Lindau disease in the International Endolymphatic Sac Tumor Registry
    1
    1. ClingenBaseline 21 Oct 2026
      1 Italy c.358A>G p.Arg120Gly

      GroupID: 15

      Case: Sex unknown, Age unknown, Italian

      DiseaseAssertion: VHL

      FamilyInfo: Unknown. 1 registrant 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.R120G (c.358A>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 223199 https://www.ncbi.nlm.nih.gov/clinvar/variation/223199/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: R120G (c.358A>G)

      MultipleGeneVariants: N/A

      AminoAcidChange:ARGtoGLY ProteinPosition:120 cDNAposition:358 MutationType:missense_variant;transition CivicName:R120G(c.358A>G) ClinVarID:223199 EvidenceStatement Ethnicity:Italian Mutation:Germline DiseaseEntity:VHL DiseaseEntity:endolymphaticsactumor RefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/full/10.1002/hed.24067