1. Last 7 days
  2. www.sciencedirect.com www.sciencedirect.com
    Remak bundle size, structure, and function are regulated by the Schwann cell basal lamina
    25
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    sciencedirect.com/science/article/pii/S0896627326007440
  3. www.sciencedirect.com www.sciencedirect.com
    Acute peripheral nerve injury induces coordinated VNUT upregulation in primary sensory neurons and satellite glial cells in sensory ganglia
    17
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    sciencedirect.com/science/article/pii/S0304394026002788
  4. www.sciencedirect.com www.sciencedirect.com
    Glia proliferation and heterogeneity in CMT1A: Involvement of RUNX2-Schwann cells and endoneurial fibroblasts
    9
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    sciencedirect.com/science/article/pii/S0969996126004122
  5. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel–Lindau (VHL) disease
    1
    1. ClingenBaseline 06 Nov 2026

      Medical records of 26 patients with germline mutations of the VHL gene who had been diagnosed with VHL disease in Severance Hospital (Seoul, Republic of Korea) and Samsung Medical Center (Seoul, Republic of Korea) between 2003 and 2012 were respectively reviewed. Peripheral blood leukocytes were isolated and directly sequenced. One 17Y female patient (Patient 49) presented with multiple and/or bilateral renal cell carcinoma and central nervous system hemangioblastoma. She had a germline missense mutation in the VHL gene (c.586A>T; Lys196Stop). The patient had a positive family history of VHL disease and was diagnosed with VHL Type 1. Phenotypes revised from previous report (PMID 19270817).

      EvidenceStatement ClinVarID:196284 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/25078357/
  6. 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 06 Nov 2026
      19p.P86S>18NAffected1 Hb, KC, PC, 1 RCC+ 1RCC, 1 Hb, ELST, ✞

      PatientID: None

      KindredID: 19

      Case: Sex and Ethnicity unknown; Age >18Y0M (deceased)

      DiseaseAssertion: assumed VHL

      FamilyInfo: None

      CasePresentingHPOs: HP:0010797;HP:0000107; HP:0001737; HP:0005584; HP:0030393 (hemangioblastoma, renal cyst, pancreatic cysts, renal cell carcinoma, endolymphatic sac tumor)

      CaseHPOFreeText: At initial screening, patient was found with 1 HB, 1 renal cyst, 1 pancreatic cyst, and 1 RCC. By final screening, the 5 year follow up, there was an additional RCC, HB, and endolymphatic sac tumor.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P86S (c.256C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 178692 https://www.ncbi.nlm.nih.gov/clinvar/variation/178692/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: P86S(c.256C>T)

      MultipleGeneVariants: N/A

      AssumedRefSeq:NM_000551.3 InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts DiseaseEntity:endolymphaticsactumor NoFamilyInfo ClinVarID:Yes ClinVarID:178692 ProteinPosition:86 CivicName:P86S(c.256C>T) cDNAposition:256 AminoAcidChange:PROtoSER MutationType:missense_variant;transition inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC2822817/
  7. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients
    4
    1. ClingenBaseline 06 Nov 2026
      86 VHL patients

      A cohort of VHL patients from the Greater Toronto Area in Canada were retrospectively reviewed. 3 patients were found with this germline mutation (c.263G>A). Whether patients were related, age, and sex data was not reported in this paper, although they were previously reported under PMID: 29437867. Both patients (patient 58 and 59) were asymptomatic, and Patient ID 43 was with hemangioblastoma and clear cell renal cell carcinoma.

      ClinVarID:182978 EvidenceStatement inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 06 Nov 2026
      35 (45%) had missense variants

      PatientID: 7

      KindredID: 7

      Case: Age, Sex, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: patient was recorded with a CNS hemangioblastoma

      CaseNotHPOs: HP:0030421; HP:0006770; HP:0100634; HP:0030405; HP:0009711 (epididymal tumour, clear cell renal cell carcinoma, neuroendocrine neoplasm, pancreatic endocrine tumour, retinal capillary hemangioma)

      CaseNotHPOFreeText: patient was recorded without CCRCC, and a pheochromocytoma and/or paraganglioma (neuroendocrine neoplasm), pancreatic endocrine tumour (or pancreatic neuroendocrine neoplasm), and a retinal hemangioblastoma, or a epididymal tumor

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

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

      Variant: p.N78S (c.233A>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 93326 https://www.ncbi.nlm.nih.gov/clinvar/variation/93326/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: N78S (c.233A>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma RefSeq:NM_000551.3 CivicName:N78S(c.233A>G) cDNAposition:233 ProteinPosition:78 AminoAcidChange:ASNtoSER MutationType:missense_variant;transition SupplementalData Mutation:Germline NoFamilyInfo ClinVarID:93326 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    3. ClingenBaseline 06 Nov 2026
      35 (45%) had missense variants,

      PatientID: 49

      KindredID: 49

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0100634 (Neuroendocrine neoplasm)

      CaseHPOFreeText: Recorded as a pheochromocytoma/paraganglioma

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

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

      Variant: p.P154L (c.461C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 649525 https://www.ncbi.nlm.nih.gov/clinvar/variation/649525/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: P154L (c.461C>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:neuroendocrineneoplasm SupplementalData CivicName:P154L(c.461C>T) cDNAposition:461 ProteinPosition:154 AminoAcidChange:PROtoLEU MutationType:missense_variant;transition Mutation:Germline RefSeq:NM_000551.3 ClinVarID:649525 ClinVarID:Yes NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    4. ClingenBaseline 06 Nov 2026
      86 VHL patients

      PatientID: 59

      KindredID: 59

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL (asymptomatic)

      FamilyInfo: N/A

      CasePresentingHPOs: None

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0010797; HP:0009711; HP:0100634; HP:0030405; HP:0030421; HP:0006770 (hemangioblastoma; retinal capillary hemangioma, Neuroendocrine neoplasm, pancreatic neuroendocrine neoplasm, Epididymal neoplasm; clear cell renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 29437867

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

      Variant: p.W88* (c.263G>A)

      LegacyVariant: p.W88* (c.476G>A)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182978 https://www.ncbi.nlm.nih.gov/clinvar/variation/182978/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: W88* (c.263G>A)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:asymptomatic ProteinPosition:88 AminoAcidChange:TRPtoTER CivicName:W88*(c.263G>A) MutationType:stop_gained cDNAposition:263 RefSeq:NM_000551.3 Mutation:Germline ClinVarID:182978 ClinVarID:Yes NoFamilyInfo 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
  8. rimi.imi.bg.ac.rs rimi.imi.bg.ac.rs
    Hypoxia inducible genes, erythropoietin and vascular endothelial growth factor expression in renal cell carcinoma
    1
    1. ClingenBaseline 06 Nov 2026
      Conference object (Published version)

      This study examined the expression of hypoxia related genes in renal cell carcinoma. The authors analyzed the tumor and surrounding healthy tissue in 10 patients who had radical nephrectomy due to RCC. DNA was isolated from blood, tumor and surrounding healthy tissue for sequencing VHL gene. Only 1 patient had a hereditary form of RCC with a substitution of leucine to proline at position 25 (P25L) as a polymorphism of the VHL gene. ACMG: 'PP4' because the patient' phenotype is highly specific for a disease with single genetic etiology.

      ClinVarID:93330 EvidenceStatement inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    rimi.imi.bg.ac.rs/handle/123456789/517
  9. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Genotype phenotype correlation in Asian Indian von Hippel–Lindau (VHL) syndrome patients with pheochromocytoma/paraganglioma
    1
    1. ClingenBaseline 06 Nov 2026

      Medical records of 31 Asian Indian genetically proven VHL patients with pheochromocytoma/paraganglioma were studied. A 42 year old male (Patient 20) presented with unilateral pheochromocytoma (42Y) and central nervous system hemangioblastoma (42Y). Genetic testing (PCR and Sanger sequencing) confirmed a non-familial missense mutation at c.487C>T of the VHL gene. He has a negative family history.

      EvidenceStatement ClinVarID:480772 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/29124493/
  10. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Management of renal cell carcinoma in von Hippel-Lindau disease
    1
    1. ClingenBaseline 06 Nov 2026

      PatientID: 3

      KindredID: A (III-11)

      Case: M, 35Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: The patient's mother (II:7) carried the VHL mutation and presented with hemangioblastoma, renal cell carcinoma, pheochromocytoma, and renal cysts. The patient had one brother (III:12) who had the mutation and presented with renal cell carcinoma, one asymptomatic sister (III:10) who did not undergo genetic testing and a sister (III:13) who had the mutation and renal cell carcinoma, retinal angioma, and hemangioblastoma. On the mother's side of the family there was extensive history of VHL disease. Refer to Figure 1 for family pedigree and information regarding extended family members.

      CohortInfo: 10 VHL patients with renal cell carcinoma and a definite VHL family history.

      CasePresentingHPOs: HP:0010797, HP:0005584, HP:0000107, HP:0009711 (hemangioblastoma, renal cell carcinoma, renal cyst, retinal capillary hemangioma)

      CaseHPOFreeText: Diagnosed with renal cell carcinoma and retinal angioma at age 26. Underwent radical nephrectomy of both the right and left side. There was a complication, interstitial cellular rejection and retroperitoneal abscess. The patient had five renal cell carcinomas and five renal cysts. The patient had a satellite lesion.

      CaseNotHPOs: HP:0002666 (pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V170D (c.509T>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625256 https://www.ncbi.nlm.nih.gov/clinvar/variation/625256/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence:N/A

      MutationType: missense_variant;transversion

      CivicName: V170D (c.509T>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline AssumedRefSeq:NM_000551.3 Familial FamilyPedigree DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:renalcyst DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:renalcellcarcinoma:26 AgeOfPresentation:RetinalCapillaryHemangioma:26 ProteinPosition:170 CivicName:V170D(c.509T>A) cDNAposition:509 MutationType:missense_variant;transversion AminoAcidChange:VALtoASP ClinVarID:625256 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10092992/
  11. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Two Childhood Pheochromocytoma Cases due to von Hippel-Lindau Disease, One Associated with Pancreatic Neuroendocrine Tumor: A Very Rare Manifestation
    1
    1. ClingenBaseline 06 Nov 2026
      Case 2This 10 year old girl presented with intermittent fever for the past one month. Her birth history was unremarkable. She was the fourth child of nonconsanguineous parents. Her family history was not significant for tumor occurrence. Physical examination revealed a blood pressure level of 160/100 mmHg (95p: 120/79 mmHg) and a heart rate of 110 beats per minute. Laboratory tests showed an elevated 24 h urinary VMA level of 83 mg/day. Abdominal MRI revealed a 44x33 mm, well circumscribed mass with a necrotic core in the left adrenal gland. Subtotal adrenalectomy was performed and histologic examination showed that the tumor was PCC. During two years of follow-up, a 20x19x12 mm mass was detected in the right adrenal gland on abdominal MRI. PET-computed tomography (CT) with 68Ga-DOTA‐DPhe1, Tyr3‐octreotate (68Ga- DOTATATE) showed increased uptake in the right adrenal gland and a 11x10 mm nodular lesion in the corpus of the pancreas (Figure 2). The tumoral masses in the adrenal gland and pancreas were removed. Histologic investigation of adrenal and pancreas specimens confirmed the diagnosis of PCC and PNET (World Health Organisation grade 3) respectively. One year later, an 8x7 mm lesion in the pancreas, compatible with recurrence, was observed on abdominal MRI and confirmed with 68 Ga-DOTATATE PET-CT. Splenectomy and subtotal pancreatectomy were performed for removal of the lesion. Histologic examination of the pancreatic lesion reported a neuroendocrine tumor. Bilateral PCC with PNET suggested the diagnosis of VHL disease. Molecular genetic analysis of the VHL gene revealed a heterozygous missense mutation c. 386 T>G (p.Leu129Pro) which has been previously described. No additional VHL tumor developed during three years follow up.

      PatientID: 2

      KindredID: 2

      Case: F, 13Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Family history was not significant for tumor occurrence.

      CohortInfo: Two cases of VHL disease in children, who presented with PCC as the first manifestation.

      CasePresentingHPOs: HP:0006748, HP:0030405 (Adrenal pheochromocytoma, pancreatic endocrine tumour)

      CaseHPOFreeText: At age 10, abdominal MRI revealed a 44x33 mm mass with a necrotic core in the left adrenal gland. Subtotal adrenalectomy was performed and histologic examination showed that the tumor was PCC. During two years of follow-up, a 20x19x12 mm mass was detected in the right adrenal gland and a 11x10 mm nodular lesion in the corpus of the pancreas which was found to be a pancreatic endocrine tumour. One year later, the pancreatic endocrine tumour reoccured.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L129P (c.386T>C) *the cDNA change is misrecorded in the paper as 386T>G

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 625242 https://www.ncbi.nlm.nih.gov/clinvar/variation/625242/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: L129P (c.386T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:VHL NonFamilial DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:adrenalpheochromocytoma:10 AgeOfPresentation:adrenalpheochromocytoma:12 AgeOfPresentation:pancreaticendocrinetumor:13 AgeOfPresentation:pancreaticendocrinetumor:12 cDNAposition:386 ProteinPosition:129 AminoAcidChange:LEUtoPRO ClinVarID:625242 MutationType:missense_variant;transition CivicName:L129P(c.386T>C) 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/PMC5985389/
  12. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations
    1
    1. ClingenBaseline 06 Nov 2026
      c.340G>A

      Of 31 Brazilian patients, four presented with the c.340G>A (p.Gly114Ser) mutation of the VHL gene. Genomic DNA was extracted and all VHL coding regions were analyzed by Sanger sequencing. MLPA was performed to investigate large deletions using SALSA® MLPA® P016 VHL probe mix. Data analysis was performed with Genescan 3.7. Of these four patients, three were of the same family. Individual 1 of family 1, 38 years old, presented with paraganglioma, pheochromocytoma, and pancreatic endocrine tumor. Individual 2 of family 1, age 20, had a history of sudoresis, headaches, and abdominal pain. He was diagnosed with hypertension. At 4 years old, a CT scan revealed a 5cm heterogenous mass in the right adrenal gland and he underwent a right nodulectomy. 3 years later, a bilateral recurrence was found (4cm right and 1.5cm left nodules) and he underwent a right-side adrenalectomy and a left-side nodulectomy. 13 years later he presented with a left-side reoccurance (1.3cm nodule) and elevated plasmatic normetanephrine levels. He underwent left-side adrenalectomy. He also presented with paraganglioma, pancreatic endocrine tumor (at 20Y) and CNS hemangioblastoma. Individual 3 of family 1, 26 years old, presented with paraganglioma, pheochromocytoma, pancreatic endocrine tumor, renal cyst, CNS hemangioblastoma and retinal hemangioblastoma. The relation between these familials was not specified. Individual 4 of family 2 presented with left-side pheochromocytoma (6cm) and a right-side pheochromocytoma, (5.5cm) at 8 years. She also presented with pancreatic endocrine tumor (1.5cm) at 14Y.

      EvidenceStatement ClinVarID:583094 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6735756/
  13. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Retinal angiomatosis and von Hippel-Lindau disease
    2
    1. ClingenBaseline 06 Nov 2026

      41 non-related patients with retinal angiomatosis presenting in the Benjamin Franklin University Eye Clinic between 1988 to 1999 Germany were evaluated for the presence of other VHL lesions. VHL disease was diagnosed clinically in 33 patients based on the presence of other severe VHL lesions (spinal hemangioblastoma 45% prevalence, cerebellar hemangioblastoma 42% prevalence, renal cysts 39% prevalence, pancreatic cyst 39% prevalence, renal carcinoma 18% prevalence, PCC 18% prevalence). VHL germline mutations were identified in 27 out of 29 VHL families screened with molecular genetics. This patient with VHL-related retinal angiomatosis was found to have germline nonsense (c.208G>T) mutaion in the VHL gene. 1 other affected relative was also evaluated. ACMG evidence codes: 'PP4' because the patients' phenotypes and family history are highly specific for a disease with single genetic etiology.

      EvidenceStatement ClinVarID:428806 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 06 Nov 2026

      GroupID: None (20)

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: This family group of 2 individuals have clinically confirmed VHL disease. These individuals were found to harbor a c.463+3A>G splice variant (noted in the paper as c.676+3A>G 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 angiomatosis in at least one patient.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.463+3A>G

      LegacyVariant: c.676+3A>G

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428796, https://www.ncbi.nlm.nih.gov/clinvar/variation/428796/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition; splice_site_variant

      CivicName: c.463+3A>G

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:428796 ClinVarID:Yes MutationType:missense_variant;transition MutationType:splice_site_variant CivicName:c.463+3A>G NoFamilyInfo FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/11148816/
  14. 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
    6
    1. ClingenBaseline 06 Nov 2026
      Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected.

      GroupID/ KindredID: R-D

      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 Utrecht, The Netherlands database, with an unknown number of members belonging to Family ID R-D. 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.V170D (c.509T>A)

      LegacyVariant: p.V170D (c.722T>A)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625256 https://www.ncbi.nlm.nih.gov/clinvar/variation/625256/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: V170D (c.509T>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:pheochromocytoma cDNAposition:509 CivicName:V170D(c.509T>A) AminoAcidChange:VALtoASP ProteinPosition:170 MutationType:missense_variant;transversion ClinVarID:625256 ClinVarID:Yes Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 06 Nov 2026
      Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected.

      Germline mutational data on VHL was gathered from various countries to assess variation in germline mutations that produce disease within different populations. Families were grouped according to three possible outcomes of disease: renal cell carcinoma without pheochromocytoma, renal cell carcinoma with pheochromocytoma, or pheochromocytoma alone. SSCP and denaturing gradient gel electrophoresis identified mutations in 300/469 (63%) of families affected with VHL. This germline familial VHL mutation (E94* (c.280G>T)) was taken fromthe Cambridge, Department of Pathology database, with an unknown number of members belonging to Family ID 51CA. It was reported in the paper as c.493G>T due to a difference in transcript reference. As reported in Table 3, this mutation is found in VHL families without pheochromocytoma, and with renal cell carcinoma.

      EvidenceStatement ClinVarID:584477 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    3. ClingenBaseline 06 Nov 2026
      Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected.

      Germline mutational data on VHL was gathered from various countries to assess variation in germline mutations that produce disease within different populations. Families were grouped according to three possible outcomes of disease: renal cell carcinoma without pheochromocytoma, renal cell carcinoma with pheochromocytoma, or pheochromocytoma alone. SSCP and denaturing gradient gel electrophoresis identified mutations in 300/469 (63%) of families affected with VHL. This germline familial VHL mutation (N78H (c.232A>C)) was taken from multiple databases including: the National Cancer Institute database, the Department of Uroglogy, Yokohama database, and the Cambridge, Department of Pathology database, with an unknown number of members belonging to Family IDs 4389NCI, 1YO, 34CA. It was reported in the paper as c.445A>C due to a difference in transcript reference. As reported in Table 3, this mutation is found in VHL families without pheochromocytoma, and with renal cell carcinoma.

      ClinVarID:625225 EvidenceStatement inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    4. ClingenBaseline 06 Nov 2026
      Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected.

      GroupID/ KindredID: 3563NCI

      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 National Cancer Institute database, with an unknown number of members belonging to Family ID 3563NCI. Table 3 lists all ID and mutations associated with individuals possessing renal carcinoma, without phechromocytoma.

      GroupPresentingHPOs: HP:0005548 (renal cell carcinoma)

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

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: 7728151; 9829911

      SupplementalData: N/A

      Variant: p.V62Cfs*5 (c.180delG)

      LegacyVariant: (c.393delG)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182986 https://www.ncbi.nlm.nih.gov/clinvar/variation/182986/

      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: minus_1_frameshift_variant

      CivicName: V62fs (c.180delG)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:renalcellcarcinoma cDNAposition:180 CivicName:V62fs(c.180delG) ProteinPosition:62 MutationType:minus_1_frameshift_variant AminoAcidChange:VALtoCYS ClinVarID:182986 ClinVarID:Yes Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    5. ClingenBaseline 06 Nov 2026
      Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected.

      Germline mutational data on VHL was gathered from various countries to assess variation in germline mutations that produce disease within different populations. Families were grouped according to three possible outcomes of disease: renal cell carcinoma without pheochromocytoma, renal cell carcinoma with pheochromocytoma, or pheochromocytoma alone. SSCP and denaturing gradient gel electrophoresis identified mutations in 300/469 (63%) of families affected with VHL. This germline familial VHL mutation (W88R (c.262T>A)) was taken from the National Cancer Institute database, with an unknown number of members belonging to Family ID 1255NCI. It was reported in the paper as c.475T>A due to a difference in transcript reference. As reported in Table 3, this mutation is found in VHL families without pheochromocytoma, and with renal cell carcinoma. Later publications reference this cohort as being reported in PMIDs: 7728151 and 9829911.

      ClinVarID:456577 EvidenceStatement inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    6. ClingenBaseline 06 Nov 2026
      Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected.

      GroupID/ KindredID: 13F, 564NCI, 1239NCI

      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 Neuro Olcologie database in Paris and the National Cancer Institute database, with an unknown number of members belonging to Family IDs 13F, 564NCI, 1239NCI. 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: 7728151; 9829911

      SupplementalData: N/A

      Variant: p.W117C (c.351G>T)

      LegacyVariant: p.W117C (c.564G>T)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 167827 https://www.ncbi.nlm.nih.gov/clinvar/variation/167827/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: W117C (c.351G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:renalcellcarcinoma ProteinPosition:117 cDNAposition:351 CivicName:W117C(c.351G>T) AminoAcidChange:TRPtoCYS MutationType:missense_variant;transversion ClinVarID:167827 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/
  15. www.sciencedirect.com www.sciencedirect.com
    Enhanced auditory gain and tinnitus-like behavior in mice lacking KCTD12, an auxiliary subunit of GABAB receptors
    1
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    sciencedirect.com/science/article/pii/S0969996126004109
  16. www.sciencedirect.com www.sciencedirect.com
    A TORC1-regulated H3K4me reader preserves promoter chromatin stability, and its degradation promotes meiotic remodeling
    14
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    sciencedirect.com/science/article/pii/S1097276526007185
  17. www-sciencedirect-com.uhn.idm.oclc.org www-sciencedirect-com.uhn.idm.oclc.org
    Clear cell papillary renal cell carcinoma in patients with von Hippel-Lindau syndrome—clinicopathological features and comparative genomic analysis of 3 cases
    1
    1. ClingenBaseline 06 Nov 2026
      missense mutation L128P in the VHL gene

      This study retrospectively reviewed the nephrectomy specimens for 20 patients, for whom histologic slides were available, from the authors respective institutes’ VHL clinics over a 15-year period (1996 to 2011). One patient (case 3) was found to have a history of VHL disease with a confirmed germline missense mutation (p.L128P (c.383T>C)) of the VHL gene. The 38 year old female proband presented with multiple bilateral renal tumors, and underwent multiple partial nephrectomies with tumor enucleations. Six of such tumors were identified and they ranged in size from 0.4-6.5 cm. Of these, 4 tumors were CCRCCs and 2 tumors showed were diagnosed as CCPRCCs confined to the kidney. Further, the tumors were classified as hemangioblastomas. ACMG evidence codes: 'PP4' since the patient presents phenotypes highly specific for a disease with a single genetic etiology.

      EvidenceStatement ClinVarID:1208816 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    www-sciencedirect-com.uhn.idm.oclc.org/science/article/pii/S0046817714002433
  18. www.sciencedirect.com www.sciencedirect.com
    Sequence Variations in the von Hippel–Lindau Tumor Suppressor Gene in Patients with Intracranial Aneurysms
    1
    1. ClingenBaseline 06 Nov 2026
      c.463 + 43A > G (intron 2)

      GroupID/ KindredID: None

      DiseaseAssertion: dilatation of the cerebral artery

      GroupSize: 8

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

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

      GroupPresentingHPOs: HP:0004944 (dilatation of the cerebral artery)

      GroupHPOFreeText: All members are stated to have intracranial aneurysms. Other manifestations are possible but not clear.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.463+43A>G

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 1244574 https://www.ncbi.nlm.nih.gov/clinvar/variation/1244574/

      CAID: N/A

      gnomAD: 0.01186 https://gnomad.broadinstitute.org/variant/3-10188363-A-G

      VariantEvidence: This variant’s large allele frequency means this is likely non disease causing (not deleterious; polymorphism).

      MutationType: splice_site_variant; intron_variant

      CivicName: Splice Region (463+43A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:dilatationofthecerebralartery Mutation:Germline RefSeq:NM_000551.2 NoFamilyInfo cDNAposition:463 CivicName:SpliceRegion(463+43A>G) MutationType:splice_site_variant ExperimentalAssay ClinVarID:1244574 ClinVarID:Yes MutationType:intron_variant inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    sciencedirect.com/science/article/pii/S1052305713000220
  19. erc.bioscientifica.com erc.bioscientifica.com
    Systematic comparison of sporadic and syndromic pancreatic islet cell tumors
    3
    1. ClingenBaseline 06 Nov 2026
      c.482 G>Aap.R161Q

      GroupID: 22B

      DiseaseAssertion: Unknown. Patients were pulled from either the VHL-Registry or NET-Registry and recorded with the given mutation. Symptoms or manifestations are not clear.

      GroupSize: 8

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: 8 patients with the given mutation were grouped as group 22(B) in this study. These patients were asymptomatic or unclear of symptoms.

      GroupPresentingHPOs: N/A

      GroupHPOFreeText: N/A

      GroupNotHPOs: HP:0030405 (pancreatic endocrine tumor)

      GroupNotHPOFreeText: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161Q (c.482G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182983 https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: R161Q (c.482G>A)

      MultipleGeneVariants: N/A

      RefSeq:NM_000551.2 Mutation:Germline NoFamilyInfo ClinVarID:Yes ClinVarID:182983 CivicName:R161Q(c.482G>A) cDNAposition:482 AminoAcidChange:ARGtoGLN ProteinPosition:161 MutationType:missense_variant;transition inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 06 Nov 2026
      c.357 C>Gap.F119L

      GroupID: 10A

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

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

      GroupPresentingHPOs: HP:0030405 (pancreatic endocrine tumor)

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

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.F119L (c.357C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625240 https://www.ncbi.nlm.nih.gov/clinvar/variation/625240/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: F119L (c.357C>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor RefSeq:NM_000551.2 Mutation:Germline NoFamilyInfo ClinVarID:625240 ClinVarID:Yes cDNAposition:357 CivicName:F119L(c.357C>G) AminoAcidChange:PHEtoLEU MutationType:missense_variant;transversion ProteinPosition:119 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    3. ClingenBaseline 06 Nov 2026
      c.266 T/Cap.L89P

      GroupID: 5A

      Case: Sex, Age, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: None. The patient with the given mutation in this study was a VHL patient with pancreatic ICTs.

      CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumor)

      CaseHPOFreeText: Patient has islet cell tumors (ICTs), or listed as pancreatic endocrine tumor.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L89P (c.266T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182979 https://www.ncbi.nlm.nih.gov/clinvar/variation/182979/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: L89P (c.266T>C)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor RefSeq:NM_000551.2 Mutation:Germline NoFamilyInfo CivicName:L89P(c.266T>C) cDNAposition:266 AminoAcidChange:LEUtoPRO ProteinPosition:89 MutationType:missense_variant;transition ClinVarID:182979 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    erc.bioscientifica.com/view/journals/erc/17/4/875.xml
  20. 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 06 Nov 2026

      In a study of 426 unrelated VHL patients, 111 were discovered to have alterations in the VHL gene. 18 novel variants were identified in VHL patients, but none were present in 200 unaffected control individuals. DNA samples from peripheral blood leukocytes underwent polymerase chain reaction (PCR) amplification, denaturing high-performance liquid chromatography (DHPLC), and direct sequence analysis of the entire coding sequence and intron-exon boundaries. The R161Q (c.482G>A) germline missense mutation of the VHL gene was found in a 8 year old VHL patient with pheochromocytoma (index case 244).

      EvidenceStatement ClinVarID:182983 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/21463266/
  21. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Robotic adrenalectomy in the pediatric population: initial experience case series from a tertiary center
    1
    1. ClingenBaseline 06 Nov 2026
      Patient’s father has von Hippel-Lindau disease and had undergone bilateral adrenalectomy for pheochromocytoma and bilateral nephrectomy for renal cell carcinoma. A pathogenic VHL mutation (c.583C > T, p.Q195X) was found in the patient, which was same as the father.

      PatientID: 2

      KindredID: 2

      Case: M, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: This patient is the father of case 2 (patient 1; kindred 2). His son was found to have a right adrenal mass detected by MRI at 13Y0M. His son has the same VHL nonsense mutation.

      CasePresentingHPOs: HP:0006748, HP:0005548 (adrenal pheochromocytoma, renal cell carcinoma )

      CaseHPOFreeText: This patient was previously diagnosed with VHL disease and undergone bilateral adrenalectomy for pheochromocytoma and bilateral nephrectomy for renal cell carcinoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q195* (c.583C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428794, https://www.ncbi.nlm.nih.gov/clinvar/variation/428794/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Q195* (c.583C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:stop_gained AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:renalcellcarcinoma CivicName:Q195*(c.583C>T) cDNAPosition:583 ProteinPosition:195 AminoAcidChange:GLNtoTER Familial ClinVarID:Yes ClinVarID:428794 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC7542890/
  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 06 Nov 2026
      one nonsense VHL mutation was detected in a young patient with a solitary central nervous system hemangioblastoma without familial history

      Eligible patients were all index cases with clinical diagnosis or clinical suspicion of type 1 VHL referred for genetic testing from 2003 to 2015. Universal primer quantitative fluorescent multiplex polymerase chain reaction (UPQFM-PCR) and multiplex ligation-dependent probe amplification (MLPA) analysis was completed using peripheral blood leukocytes. This patient (ID #22) was found with this VHL nonsense mutation (c.264G>A) when they were 13Y. They did not fulfil type 1 VHL clinical diagnosis. They presented with CNS hemangioblastoma at 13Y. Family history was unremarkable.

      EvidenceStatement ClinVarID:936684 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    liebertpub.com/doi/10.1089/gtmb.2016.0204
  23. www.endocrinepractice.org www.endocrinepractice.org
    VHL-Related Neuroendocrine Neoplasms And Beyond: An Israeli Specialized Center Real-Life Report
    1
    1. ClingenBaseline 06 Nov 2026
      other VHL patients

      An Israeli specialized center identified 32 VHL patients belonging to 16 diferent kindreds. This retorspective collection and analysis of clinical, labratory and imaging data of VHL patients involved one individual belonging to kindred II. Genetic analysis via direct VHL gene sequencing and quantitiative Southern blot identified the W88* (c.263G>A) mutation. This individual (49Y, M) had cerebellar hemangioblatomas, bilateral RCC and nephrectomy, as well as pancreatic surgery for his PNENs. He passed away at 54Y, without any family history reported.

      ClinVarID:182978 EvidenceStatement inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    endocrinepractice.org/article/S1530-891X(20)48218-7/fulltext
  24. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Improved Detection of Germline Mutations in Korean VHL Patients by Multiple Ligation-dependent Probe Amplification Analysis
    1
    1. ClingenBaseline 06 Nov 2026
      383T>C

      PatientID: 5

      KindredID: 5

      Case: F, 27Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: None. Sporadic

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

      CaseHPOFreeText: 'Other' phenotypes found in patient. These are noted in the paper to include: pancreatic neuroendocrine tumors (PNETs), renal and pancreatic cysts and central nervous system tumors, although it is not clearly stated that patient has all. (See Table 1).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L128P (c.383T>C)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 1208816 https://www.ncbi.nlm.nih.gov/clinvar/variation/1208816

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: L128P (c.383T>C)

      MultipleGeneVariants: N/A

      Ethnicity:Korean DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma RefSeq:NM_000551.2 cDNAposition:383 ProteinPosition:128 AminoAcidChange:LEUtoPRO MutationType:missense_variant;transition CivicName:L128P(c.383T>C) NoFamilyInfo Mutation:Germline ClinVarID:1208816 yes inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC2650969/
  25. www.karger.com www.karger.com
    Germline Mutation in the von Hippel-Lindau Gene in Kuwait
    2
    1. ClingenBaseline 06 Nov 2026

      PatientID: III-9

      KindredID: 1

      Case: F, Age Unknown, Middle Eastern

      DiseaseAssertion: VHL

      FamilyInfo: Multigenerational Kuwaiti family with Arabian and Persian genetic admixture. Thirteen members of the family had been clinically diagnosed as having VHL. Patient 1-I had 6 children, 5 of which were found with VHL and the p.W117C mutation. 7/20 of her grandchildren also found to have VHL and the same mutation.

      CasePresentingHPOs: HP:0010797; HP:0006770; HP:0009713; HP:0009711; HP:0006880 (hemangioblastoma; clear cell renal cell carcinoma; spinal hemangioblastoma; retinal capillary hemangioma; cerebellar hemangioblastoma)

      CaseHPOFreeText: Member had clear cell renal carcinomas in addition to hemangioblastomas. She had undergone multiple surgeries because of tumors involving the cerebellum, cervical spine, lumbar spine, multiple abdominal and pelvic organs and the retina. The tumor had been demonstrated on angiography as very extensive and vascular. The patient had had a partial nephrectomy, adrenalectomy, distal pancreatomy for involvement of the tail of the pancreas with a hemangioblastoma and a left salpingoophorectomy.

      CaseNotHPOs: HP:0002666 (pheochromocytoma)

      CaseNotHPOFreeText: Lacked evidence of any pheos.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W117C (c.351G>T)

      LegacyVariant: p.Trp117Cys (c.564G>T)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 167827 https://www.ncbi.nlm.nih.gov/clinvar/variation/167827/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: W117C (c.351G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:MiddleEastern DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:cerebellarhemangioblastoma Mutation:Germline RefSeq:AF010238.1 CivicName:W117C(c.351G>T) cDNAposition:351 ProteinPosition:117 AminoAcidChange:TRPtoCYS MutationType:missense_variant;transversion ClinVarID:167827 ClinVarID:Yes Familial FamilyPedigree ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 06 Nov 2026

      PatientID: III-8

      KindredID: 1

      Case: F, Age Unknown, Middle Eastern

      DiseaseAssertion: VHL

      FamilyInfo: Multigenerational Kuwaiti family with Arabian and Persian genetic admixture. Thirteen members of the family had been clinically diagnosed as having VHL. Patient 1-I had 6 children, 5 of which were found with VHL and the p.W117C mutation. 7/20 of her grandchildren also found to have VHL and the same mutation.

      CasePresentingHPOs: HP:0010797; HP:0006770; HP:0009725; HP:0030692 (hemangioblastoma; clear cell renal cell carcinoma; bladder tumour; brain tumour)

      CaseHPOFreeText: Member had clear cell renal carcinomas in addition to hemangioblastomas. She was also the only member of the family to be diagnosed as having a bladder tumor, considered rare in VHL cases, and a brain tumor.

      CaseNotHPOs: HP:0002666 (pheochromocytoma)

      CaseNotHPOFreeText: Lacked evidence of any pheos.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W117C (c.351G>T)

      LegacyVariant: p.Trp117Cys (c.564G>T)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 167827 https://www.ncbi.nlm.nih.gov/clinvar/variation/167827/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: W117C (c.351G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:MiddleEastern DiseaseEntity:VHL DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:hemangioblastoma DiseaseEntity:braintumor DiseaseEntity:bladdertumor Mutation:Germline RefSeq:AF010238.1 ProteinPosition:117 CivicName:W117C(c.351G>T) cDNAposition:351 AminoAcidChange:TRPtoCYS MutationType:missense_variant;transversion ClinVarID:167827 ClinVarID:Yes Familial FamilyPedigree ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    karger.com/Article/Abstract/141504
  26. nyaspubs-onlinelibrary-wiley-com.uhn.idm.oclc.org nyaspubs-onlinelibrary-wiley-com.uhn.idm.oclc.org
    von Hippel-Lindau gene mutation in non-syndromic familial pheochromocytomas
    2
    1. ClingenBaseline 06 Nov 2026
      Missense VHL gene mutation Arg161Gln (695G-A) was found in two families

      PatientID: proband

      KindredID: 1

      Case: M, Age unknown, Chinese

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: There is a history of non-syndromic familial pheochromocytoma in this patient’s family history as well as a confirmed presence of this same germline mutation in their family: sister and mother

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: Only non-syndromic pheochromocytomas were discussed here. See PMID: 20120764 for detailed information

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: No clinical manifestations of hereditary syndromes, including MEN2A, MEN2B, VHL, and NF1 were found

      CasePreviousTesting: N/A

      PreviouslyPublished: 20120764 - contains detailed family and patient information

      SupplementalData: N/A

      Variant: p.R161Q (c.482G>A)

      LegacyVariant: p.R161Q (c.695G>A)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182983 https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R161Q (c.482G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:pheochromocytoma Mutation:Germline AssumedRefSeq:AF010238.1 ProteinPosition:161 cDNAposition:482 CivicName:R161Q(c.482G>A) AminoAcidChange:ARGtoGLN MutationType:missense_variant;transition ClinVarID:182983 ClinVarID:Yes FamilyPedigree Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 06 Nov 2026
      Leu163Phe (700C-T)

      PatientID: (proband)

      KindredID: 3

      Case: M, Age unknown, Chinese

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: There is a history of non-syndromic familial pheochromocytoma in this patient’s family history, however their relatives were not available for the study. It is not perfectly clear which pedigree belongs to this family.

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: non-syndromic pheochromocytoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: No clinical manifestations of hereditary syndromes, including MEN2A, MEN2B, VHL, and NF1 were found

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L163F (c.487C>T)

      LegacyVariant: p.L163F (c.700C>T)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 480772 https://www.ncbi.nlm.nih.gov/clinvar/variation/480772/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: L163F (c.487C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:pheochromocytoma AssumedRefSeq:AF010238.1 Mutation:Germline cDNAposition:487 CivicName:L163F(c.487C>T) AminoAcidChange:LEUtoPHE ProteinPosition:163 MutationType:missense_variant;transition ClinVarID:480772 ClinVarID:Yes Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    nyaspubs-onlinelibrary-wiley-com.uhn.idm.oclc.org/doi/full/10.1196/annals.1353.022
  27. www.sciencedirect.com www.sciencedirect.com
    The chromatin context differently impacts prime editors and base editors and controls the fidelity and purity of base editing
    14
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    sciencedirect.com/science/article/pii/S1097276526007173
  28. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Germline mutations in the von Hippel–Lindau disease tumor suppressor gene: Correlations with phenotype
    3
    1. ClingenBaseline 06 Nov 2026

      In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This mutation also found in 3 family members with VHL type 1 phenotype (family ID 3624), using PCR and SSCP sequencing. The mutation of c.526delA was referred to in the paper by c.739delA due to a difference in transcript sequence. One of 3 individuals was identified with renal cell carcinoma, two with CNS hemangioblastomas and retinal hemngioblastomas. ACMG codes as follows: PVS1, frameshift variant occurs in a gene where loss of function is a known mechanism of disease.

      ClinVarID:625257 EvidenceStatement inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 06 Nov 2026

      GroupID: 3575

      DiseaseAssertion: assumed VHL

      GroupSize: 3

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Familial VHL stated; 3 family members recorded with this mutation.

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

      GroupHPOFreeText: 2/3 members had retinal angiomas (hemangiomas), 1 had CNS hemangioblastoma and 1 had RCC

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N150Ifs*9 (c.448delA)

      CaseProblemVariantFreeText: NM_000551.3:c.448delA adjusts to up to date to NM_000551.4:c.449delA

      LegacyVariant: p.221fs (c.661delA)

      ClinVarID: 195093 https://www.ncbi.nlm.nih.gov/clinvar/variation/195093/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: N150fs (c.448delA)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma Mutation:Germline RefSeq:AF010238.1 ProteinPosition:150 cDNAposition:448 CivicName:N150fs(c.448delA) MutationType:minus_1_frameshift_variant ClinVarID:195093 ClinVarID:Yes Familial FamilyCohort InheritancePattern:AutosomalDominant AminoAcidChange:ASNtoILE inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    3. ClingenBaseline 06 Nov 2026

      GroupID: 3624

      DiseaseAssertion: assumed VHL

      GroupSize: 3

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Familial VHL stated; 3 family members recorded with this mutation.

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

      GroupHPOFreeText: 2/3 members had retinal angioma (hemangioma), 2/3 had CNS hemangioblastoma, and 1 had RCC

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: 8956040 (type 1 3624NCI)

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.R247fs (c.739delA)

      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:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma Mutation:Germline RefSeq:AF010238.1 InheritancePattern:AutosomalDominant Familial FamilyCohort ClinVarID:Yes ClinVarID:625257 cDNAposition:526 CivicName:R176fs(c.526del) ProteinPosition:176 AminoAcidChange:ARGtoGLY MutationType:minus_1_frameshift_variant inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1002/humu.1380050109
  29. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations in the vhl gene in patients presenting with phaeochromocytomas
    1
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    pubmed.ncbi.nlm.nih.gov/9663592/
  30. 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 06 Nov 2026
      PMID: 7977367

      Tissue analysis from 61 VHL patients, 30 sporadic renal cell carcinoma (RCC) tumor samples, and 6 sporadic RCC cell lines revealed 22 variants within VHL patients, 10 variants in tumor samples and variants in all cell lines. All mutations cluster to the 3’ end of the VHL gene open reading frame, implicating this region as important for the tumor-suppressor function of the VHL protein. Northern blot, SSCP and RT-PCR analysis from normal tissue found a germline p.G93Afs* (c.278delG) mutation, stated in the paper as c.490delG due to an older transcript. It was seen in family [pedigree No] 16, with an unknown number of members described as ‘VHL-affected’ with RCC. Other manifestations are possible but not clear.

      ClinVarID:428811 EvidenceStatement inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/7977367/
  31. journals.lww.com journals.lww.com
    Endocrine Pancreatic Tumors in von Hippel-Lindau Disease:... : Pancreas
    1
    1. ClingenBaseline 06 Nov 2026
      21 missense mutations

      PatientID: 28

      KindredID: 288

      Case: Sex unknown, Age unknown, French

      DiseaseAssertion: VHL

      FamilyInfo: One other member belonging to family 288 was mentioned (Patient: 5). This patient was found to have a pancreatic endocrine tumour and pheochromocytoma, without renal cell carcinoma.

      CasePresentingHPOs: HP:0030405; HP:0002666 (pancreatic endocrine tumour, pheochromocytoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0005584 (renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161Q (c.482G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182983 https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence:N/A

      MutationType: missense_variant;transition

      CivicName: R161Q (c.482G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Familial Ethnicity:French Mutation:Germline DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:pancreaticendocrinetumor AssumedRefSeq:NM_000551.3 ClinVarID:182983 ClinVarID:Yes CivicName:R161Q(c.482G>A) cDNAposition:482 ProteinPosition:161 AminoAcidChange:ARGtoGLN MutationType:missense_variant;transition inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    journals.lww.com/pancreasjournal/fulltext/2008/07000/endocrine_pancreatic_tumors_in_von_hippel_lindau.13.aspx
  32. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Comorbid VHL and SCA2 mutations in a large kindred: confounding diagnosis of neurological dysfunction caused by CNS VHL vascular tumours versus SCA2 atrophic neurodegeneration
    2
    1. ClingenBaseline 06 Nov 2026

      PatientID: III-23

      KindredID: 1

      Case: M, Age unknown, Ethnicity Unknown

      DiseaseAssertion: asymptomatic

      FamilyInfo: Large multigenerational family with a history of both VHL and spinocerebellar ataxia type 2 (SCA2). Screening for clinical and genetic diagnostics were gathered as well as thorough information on non-living members. His mom and grandmother appeared to have the VHL mutation. See family pedigree (Fig. 1).

      CasePresentingHPOs: None

      CaseHPOFreeText: VHL found by genetic testing not clinical findings.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.E160Sfs*10 (c.477delA)

      LegacyVariant: c.688delA

      CaseProblemVariantFreeText: c.477del, p.Glu160Serfs10 should be used. Details: 477del same as 475delA bc that codon is AAA so doesn't matter which A gets deleted: there is an A at 475 476 477 so for HGVS we say that 477 (the latter) is deleted since that follows HGVS nomenclature. Thus use c.477del: p.Glu160Serfs10

      ClinVarID: 182959 https://www.ncbi.nlm.nih.gov/clinvar/variation/182959/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: E160fs (c.477del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:asymptomatic Mutation:Germline AssumedRefSeq:AF010238.1 CivicName:E160fs(c.477del) cDNAposition:477 ProteinPosition:160 AminoAcidChange:GLUtoSER MutationType:minus_1_frameshift_variant ClinVarID:182959 ClinVarID:Yes Familial FamilyPedigree ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 06 Nov 2026

      19 members of a large family were found to harbour the deletion of a single adenosine (A) at nucleotide 688 of VHL gene through genetic testing. Converted to NM_000551.3 standards this is a E160Sfs*10 (c.477delA) mutation. 9 members were genetically confirmed, alongside phenotypic presentations. Patient I.1 had 16 kids, 8 of which were known to have VHL. Southern blot analysis and PCR were performed on germline DNA samples. The proband (I.1), female of age 48, was found to have spinocerebellar ataxia type 2 and subsequently died at age 54 of pneumonia. Two of her children (II.1, II.28) and one grandchild (III.24) were noted as having CNS and renal involvement. Another child (II.5), was reported as having renal involvement. Another daughter (II.13) and a grand daughter (III.38) were noted as having CNS involvement. Her son (II.26), age 34, presented with a haemangioblastoma in the cerebellum. One year later an oesophageal abnormality was found. 10 years later, bilateral clear cell renal cancer and a syrinx associated with a spinal cord haemangioblastoma were found. He had baseline tachycardia and cystic lesions in the pancreas. A scrotal ultrasound examination showed he had a multicystic mass above his left testis consistent with epididymal cystadenoma. Haemangioblastomas posterior to the medulla with cysts splaying the medulla were also reported as well as cervical and thoracic spine hemangioblastomas. Finally, the probands grand-daughter (III.9), age 32, had a history of retinal angiomas since teen years and retinal detachment at the age of 23. She had olivopontocerebellar atrophy since her mid-late 20's due to new onset slurred speech and illegible handwriting and cysts of the pancreas and kidney detected at 22 years. She also presented multiple renal cysts without renal tumours, neuroendocrine/islet cell carcinoma (mass in the tail of the pancreas) and liver metastatic foci. Neuroimaging showed diffuse cerebellar and brain stem atrophy with slight atrophy of the cervical cord. A neurological exam revealed ataxia, dysarthria, dysmetria, and bulbar signs. She and various members of this family were also found to have abnormal increase in CAG repeats (41 instead of the normal 15-29) in one allele of her ataxin-2 gene (SCA2). ACMG evidence codes: 'PP1' since we have cosegregation with the disease in multiple affected family members, 'PP4' since the patient presents phenotypes highly specific for a disease with a single genetic etiology.

      EvidenceStatement ClinVarID:182959 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC1735181/
  33. 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 06 Nov 2026

      GroupID/ KindredID: VHL 29

      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 29

      GroupPresentingHPOs: HP:0009711; HP:0010797; HP:0002666 (retinal capillary hemangioma, hemangioblastoma, pheochromocytoma)

      GroupHPOFreeText: both (2) patients have retinal capillary hemangiomas, hemangioblastoma, and pheochromocytoma

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L178Q (c.533T>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.L178Q (c.746T>A)

      ClinVarID: 625260 https://www.ncbi.nlm.nih.gov/clinvar/variation/625260/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: allele-specific oligonucleotide (ASO) probes and hybridization conditions confirmed

      MutationType: missense_variant; transversion

      CivicName: L178Q (c.533T>A)

      MultipleGeneVariants: N/A

      Ethnicity:German Mutation:Germline DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma DiseaseEntity:pheochromocytoma RefSeq:AF010238.1 CivicName:L178Q(c.533T>A) cDNAposition:533 ProteinPosition:178 AminoAcidChange:LEUtoGLN MutationType:missense_variant;transversion ClinVarID:625260 ClinVarID:Yes InheritancePattern:AutosomalDominant Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s004390050206
  34. academic.oup.com academic.oup.com
    In silico VHL Gene Mutation Analysis and Prognosis of Pancreatic Neuroendocrine Tumors in von Hippel–Lindau Disease
    1
    1. ClingenBaseline 06 Nov 2026
      G93V (28) 1 

      GroupID:N/A

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: 301 were enrolled to evaluate the natural history of vHL-associated pancreatic lesions. Of these, 69 patients with pancreatic manifestations of vHL disease and missense VHL mutations were included in the current study.

      CasePresentingHPOs: HP:0001732 (abnormality of the pancreas)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G93V (c.278G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625232 https://www.ncbi.nlm.nih.gov/clinvar/variation/625232/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName:G93V(c.278G>T)

      MultipleGeneVariants: N/A

      MutationType:missense_variant;transversion InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL NoFamilyInfo cDNAposition:278 ProteinPosition:93 AminoAcidChange:GLYtoVAL ClinVarID:625232 ClinVarID:Yes CivicName:G93V(c.278G>T) DiseaseEntity:abnormalityofthepancreas ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    academic.oup.com/jcem/article/103/4/1631/4774929
  35. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Identification of intragenic mutations in the Von Hippel — Lindau disease tumour suppressor gene andcorrelation with disease phenotype
    1
    1. ClingenBaseline 06 Nov 2026

      KindredID:52

      GroupID: 6

      GroupSize: Unknown

      GroupNumberMales: Unknown

      GroupNumberFemales: Unknown

      GroupEthnicity: Unknown

      GroupAgeRange: Unknown

      DiseaseAssertion: VHL

      GroupInfo: Kindred no.52 describes a family where at least one member (unspecified how many) had this mutation in the VHL gene.

      GroupPresentingHPOs: N/A

      GroupHPOFreeText: N/A

      GroupNotHPOs: HP:0002666 (Pheochromocytoma)

      GroupNotHPOFreeText: Pheochromocytoma was not observed in any members of the affected patient(s)' family (VHL type 1).

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S65L (c.194C>T)

      LegacyVariant: c.407C>T (p.S136L)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182975, https://www.ncbi.nlm.nih.gov/clinvar/variation/182975/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence:

      MutationType: missense_variant;transition

      CivicName: S65L(c.194C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline RefSeq:AF010238.1 cDNAposition:194 ProteinPosition:65 AminoAcidChange:SERtoLEU ClinVarID:182975 MutationType:missense_variant;transition CivicName:S65L(c.194C>T) ClinVarID:Yes FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/7987306/
  36. journals.lww.com journals.lww.com
    Six weeks into the 2019 coronavirus disease (COVID-19)... : Chinese Medical Journal
    1
    1. ClingenBaseline 06 Nov 2026
      c.239G>T [p.Ser80Ile]

      PatientID: Fetus 2 (of proband)

      KindredID: 9

      Case: Fetus, sex unknown, Chinese

      DiseaseAssertion: N/A

      FamilyInfo: Positive - Family history of RCC and Pheo; Parent had CNS hemangioblastoma presenting at 26Y. In prenatal diagnosis, two fetuses (1 & 2) were positive for the mutation.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S80I (c.239G>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVar: 625229 https://www.ncbi.nlm.nih.gov/clinvar/variation/625229/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: S80I (c.239G>T)

      MultipleGeneVariants: N/A

      ClinVarID:625229 ClinVarID:Yes ExperimentalAssay Familial CivicName:S80I(c.239G>T) cDNAposition:239 ProteinPosition:80 AminoAcidChange:SERtoILE MutationType:missense_variant;transversion Mutation:Germline Ethnicity:Chinese RefSeq:NM_000551.2 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
  37. onlinelibrary.wiley.com onlinelibrary.wiley.com
    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 06 Nov 2026
      7 c.239G>A p.Ser80Asn p.S80N Familial VHL

      PatientID: None

      KindredID: 7

      Case: Age, Sex, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Reported as familial VHL - no further information provided

      CasePresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0002666; HP:0010797; HP:0001737; HP:0005584; HP:0000107 (pheochromocytoma, hemangioblastoma, pancreatic cysts, renal cell carcinoma, renal cyst)

      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.S80N (c.239G>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 1070179 https://www.ncbi.nlm.nih.gov/clinvar/variation/1070179/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: S80N (c.239G>A)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline RefSeq:NM_000551.2 ProteinPosition:80 CivicName:S80N(c.239G>A) cDNAposition:239 AminoAcidChange:SERtoASN MutationType:missense_variant;transition Familial InheritancePattern:AutosomalDominant ClinVarID:1070179 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/full/10.1111/j.1399-0004.2007.00827.x
  38. iovs.arvojournals.org iovs.arvojournals.org
    Retinal Hemangioblastoma in von Hippel-Lindau Disease: A Clinical and Molecular Study
    1
    1. ClingenBaseline 06 Nov 2026
      563T→C Ts Exon 3 188 CTG L L188P

      A study of 103 patients with VHL retinal manifestations and 108 patients without VHL retinal manifestations extracted from the French VHL database revealed that the number of hemangioblastomas appeared higher in patients who had a substitution when compared with patients with a truncated protein. Detected by PCR and SSCP, this mutation (L188P (c.563T>C)) was found in a VHL patient with retinal hemangioblastomas. Other manifestations are not clearly stated. No family information was provided. This is possibly previously published in PMID: 15300849

      EvidenceStatement ClinVarID:625266 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    iovs.arvojournals.org/article.aspx
  39. www.sciencedirect.com www.sciencedirect.com
    P-TEFb regulates nucleosome positioning at promoters
    11
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    sciencedirect.com/science/article/pii/S1097276526007161
  40. 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 06 Nov 2026
      1 France c.266T>C p.Leu89Pro

      GroupID: 7

      Case: Sex unknown, Age unknown, French

      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.L89P (c.266T>C)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 182979 https://www.ncbi.nlm.nih.gov/clinvar/variation/182979/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: L89P (c.266T>C)

      MultipleGeneVariants: N/A

      ClinVarID:182979 ClinVarID:Yes CivicName:L89P(c.266T>C) cDNAposition:266 ProteinPosition:89 AminoAcidChange:LEUtoPRO MutationType:missense_variant;transition DiseaseEntity:endolymphaticsactumor DiseaseEntity:VHL Mutation:Germline RefSeq:NM_000551.3 Ethnicity:French inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 06 Nov 2026
      1 France c.525C>G p.Tyr175*

      Patients with ELSTs were identified and included in the International Endolymphatic Sac Tumor Registry. The registry contained 93 patients as of July 2014, and of those, 25 were sporadic, and 68 associated with VHL. Patients with ELSTs and clinically confirmed diagnoses of VHL were included in this study. Statistics of this VHL subgroup are as follows: mean age 30, 62% female, 91% symptomatic, 54% with retinal angioma, 72% with CNS hemangioblastoma, 46% with renal cell carcinoma, 19% with pheochromocytoma, and 12% with pancreatic neuroendocrine tumour. In the data from this study, only endolymphatic sac tumours can be confirmed as a phenotype for this mutation, which was found in 1 individual from France (c.525C>G).

      ClinVarID:182974 EvidenceStatement inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/full/10.1002/hed.24067
  41. 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
    1
    1. ClingenBaseline 06 Nov 2026
      P3F2F12661nyOU20/250nn20/25nnn

      PatientID: 3

      KindredID: 2

      Case: F, 71Y0M, Ethnicity Unknown

      DiseaseAssertion: Assumed VHL

      FamilyInfo: A family pedigree is provided. Patient’s daughter and granddaughter have the same mutation. Patient’s daughter had a retinal capillary hemangioma and lamellar macular hole in the left eye. The granddaughter did not seem to be affected.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: The patient has tumours, but which she has were not specified (table 1).

      CaseNotHPOs: HP:0001737 (Retinal capillary hemangioma)

      CaseNotHPOFreeText: Patient did not have retinal capillary hemangiomas.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P192L (c.575C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 526677, https://www.ncbi.nlm.nih.gov/clinvar/variation/526677/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: P192L (c.575C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition FamilyPedigree ClinVarID:526677 CivicName:P192L(c.575C>T) cDNAPosition:575 ProteinPosition:192 AminoAcidChange:PROtoLEU ClinVarID:Yes DiseaseEntity:VHL Familial 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/
  42. pubmed-ncbi-nlm-nih-gov.proxy1.lib.uwo.ca pubmed-ncbi-nlm-nih-gov.proxy1.lib.uwo.ca
    Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma
    1
    1. ClingenBaseline 06 Nov 2026

      PatientID: V60

      KindredID: V60

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Four unaffected family members were tested and found to be negative. No other family history was available.

      CohortInfo:92 unrelated patients with VHL disease.

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161Q(c.482G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182983 https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName:R161Q(c.482G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:pheochromocytoma MutationType:missense_variant;transition NoFamilyInfo ProteinPosition:161 CivicName:R161Q(c.482G>A) cDNAposition:482 AminoAcidChange:ARGtoGLN ClinVarID:182983 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed-ncbi-nlm-nih-gov.proxy1.lib.uwo.ca/9829912/
  43. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Clinical and mutation analysis of four Chinese families with von Hippel-Lindau disease
    1
    1. ClingenBaseline 06 Nov 2026
      PMID: 23143947

      PatientID: BII:6

      KindredID: B

      Case: M, 24Y0M (deceased), Chinese

      DiseaseAssertion: cerebellar hemangioblastoma

      FamilyInfo: A 3-generation family is given with 1 confirmed member tested for VHL (proband: III:5). His mother likely had the mutation as the mother and her brother both had VHL phenotypes at young ages (27Y and 22Y).

      CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

      CaseHPOFreeText: Patient had operation for cerebellar hemangioblastoma at the age of 22 and died of bilateral multiple hemangioblastoma at the age of 24, with no chance of surgical treatment.

      CaseNotHPOs: HP:0009711; HP:0002666; HP:0005584; HP:0001737 (retinal capillary hemangioma, pheochromocytoma, renal cell carcinoma, pancreatic cysts)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P154L (c.461C>T) [assumed]

      LegacyVariant: p.P154L (c.647C>T)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 649525, https://www.ncbi.nlm.nih.gov/clinvar/variation/649525/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: No genetic testing was done prior to death, however family history and presentation leads to this assumption

      MutationType: missense_variant; transition

      CivicName: P154L (c.461C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:cerebellarhemangioblastoma:22 Mutation:Germline AssumedRefSeq:AF010238.1 MutationType:missense_variant;transition ProteinPosition:154 cDNAposition:461 CivicName:P154L(c.461C>T) AminoAcidChange:PROtoLEU ClinVarID:649525 ClinVarID:Yes Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/23143947/
  44. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype-phenotype correlations in Chinese von Hippel–Lindau disease patients
    3
    1. ClingenBaseline 06 Nov 2026

      PatientID: 13

      KindredID: 6

      Case: F, Age unknown, Chinese

      DiseaseAssertion: Asymptomatic

      FamilyInfo: Family #6 is large. The proband (patient 12) had 8 family members genetically confirmed with the mutation and two family members who passed away before diagnosis. The 8 genetically confirmed family members include patient 13/ her daughter (asymptomatic,) 14/ her mother (CNS hemangioblastoma at age 59,) 15/ her uncle 1 (CNS hemangioblastoma age 45, renal cell carcinoma at 59, multiple pancreatic cysts/tumors at 65), 18/ the son of her uncle 2 (CNS hemangioblastoma at age 22, renal cell carcinoma at 30, multiple pancreatic cysts/tumors at 31,) 19/ the granddaughter of her uncle 2 (asymptomatic), 20/ the second son of her uncle 2 (asymptomatic), 21/ her aunt (CNS hemangioblastoma and retinal angioma at 53,) and 22/ her uncle 3 (multiple pancreatic cysts/tumors at 29). The 2 family members who passed away before diagnosis are patients 16/ son of her uncle 1 (CNS hemangioblastoma at 22) and 17/ her uncle 2 (CNS hemangioblastoma, renal cell carcinoma, and multiple pancreatic cysts/tumors at age 51).

      CasePresentingHPOs: N/A

      CaseHPOFreeText: The proband's daughter, patient 13, was asymptomatic at the time of the study.

      CaseNotHPOs: HP:0009711; HP:0002666; HP:0010797; HP:0001737; HP:0001732; HP:0005584 (Retinal capillary hemangioma, Pheochromocytoma, Hemangioblastoma, Pancreatic cysts, Abnormality of the pancreas, Renal cell carcinoma )

      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.S65L (c.194C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182975; https://www.ncbi.nlm.nih.gov/clinvar/variation/182975/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: S65L(c.194C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline DiseaseEntity:asymptomatic MutationType:missense_variant;transition AssumedRefSeq:NM_000551.3 ClinVarID:Yes ClinVarID:182975 SupplementalData CivicName:S65L(c.194C>T) cDNAposition:194 ProteinPosition:65 AminoAcidChange:SERtoLEU Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 06 Nov 2026

      PatientID: 115

      KindredID: 42

      Case: M, 12Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The proband (patient 42) had four family members confirmed with the mutation: his son (CNS hemangioblastoma at 12, retinal angioma at 11); his sister 1 (patient 116) presented with multiple pancreatic cysts/tumors at 53; his niece (daughter of sister 2) was asymptomatic at the time of assessment, and his nephew (son of brother 2) presented with a CNS hemangioblastoma at 12, and pheochromocytoma and multiple pancreatic cysts/tumors at 18. The proband also had three family members who passed away before diagnosis/ before they could be confirmed with the mutation: his sister 2 (patient 117) had multiple pancreatic cysts/tumors at 46, his brother 1 presented with a CNS hemangioblastoma at 47, renal cell carcinoma at 59, and multiple pancreatic cysts/tumors at 59; and his brother 2 presented with a retinal capillary hemangioma at 43, and CNS hemangioblastoma, renal cell carcinoma, and multiple pancreatic cysts/tumors at 44.

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

      CaseHPOFreeText: The proband presented with a CNS hemangioblastoma at 36, multiple pancreatic cysts and/or tumors at 40, and retinal angioma and renal cell carcinoma at 44.

      CaseNotHPOs: HP:0002666; HP:0001737; HP:0001732; HP:0005584 (Pheochromocytoma, Pancreatic cysts, Abnormality of the pancreas, Renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: This cohort was also published in a paper by Wang et al., 2018 (PMID: 24581539) and Wang et al., 2014 (PMID: 29330336).

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

      Variant: p.W117G (c.349T>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 862346; https://www.ncbi.nlm.nih.gov/clinvar/variation/862346/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: W117G (c.349T>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:hemangioblastoma:12 AgeOfPresentation:retinalcapillaryhemangioma:11 CivicName:W117G(c.349T>G) cDNAposition:349 ProteinPosition:117 AminoAcidChange:TRPtoGLY ClinVarID:862346 ClinVarID:Yes MutationType:missense_variant;transversion SupplementalData Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    3. ClingenBaseline 06 Nov 2026

      A retrospective cohort study included all the VHL patients diagnosed at Peking University First Hospital (Beijing, China) prior to June 1 2016. A total of 291 patients from 115 different families were included for analysis. One male patient (patient 226) was found with this germline mutation from family #84. He was diagnosed with CNS hemangioblastoma at 24Y and multiple pancreatic lesions at 26Y. This cohort was also published in a paper by Wang et al., 2018 (PMID: 29330336).

      EvidenceStatement ClinVarID:Yes ClinVarID:428799 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5503545/
  45. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germ‐line Mutation Analysis in Patients with von Hippel‐Lindau Disease in Japan: An Extended Study of 77 Families
    2
    1. ClingenBaseline 06 Nov 2026

      A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot analysis of peripheral blood samples. The W117C (c.351G>T) germline missense mutation was found in a VHL type 1 patient with hemangioblastomas of the central nervous system and pancreatic cysts or tumors (unspecified) (family ID 83).

      EvidenceStatement ClinVarID:167827 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 06 Nov 2026

      PatientID: None

      KindredID: 64

      Case: Sex Unknown, Age Unknown, Japanese

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797 (Hemangioblastoma)

      CaseHPOFreeText: CNS hemangioblastoma.

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P86S (c.256C>T)

      LegacyVariant: c.469C>T

      CaseProblemVariantFreeText: N/A

      ClinVarID: 178692, https://www.ncbi.nlm.nih.gov/clinvar/variation/178692/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86S (c.256C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Japanese DiseaseEntity:VHL DiseaseEntity:hemangioblastoma Mutation:Germline RefSeq:AF010238.1 cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoSER ClinVarID:178692 ClinVarID:Yes MutationType:missense_variant;transition CivicName:P86S(c.256C>T) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10761708/
  46. www.sciencedirect.com www.sciencedirect.com
    An SMN2 splicing-correcting antisense oligonucleotide promotes gene looping and transcription activation
    14
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    sciencedirect.com/science/article/pii/S1097276526007148
  47. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations of the VHL gene in seven Chinese families with von Hippel-Lindau disease
    1
    1. ClingenBaseline 06 Nov 2026
      Disease-associated genetic abnormalities were identified in all of the seven families examined.

      PatientID: father

      KindredID: F

      Case: M, 53Y0M, Chinese

      DiseaseAssertion: assumed VHL

      FamilyInfo: Family history is said to be positive. Patient’s father had hemangioblastoma of the CNS at 23Y, and pancreatic cysts at 25Y.

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

      CaseHPOFreeText: Patient had hemangioblastoma of the CNS and pancreatic cysts diagnosed at 53Y

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q145* (c.433C>T)

      LegacyVariant: p.Q145* (c.646C>T)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625249 https://www.ncbi.nlm.nih.gov/clinvar/variation/625249/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Q145* (c.433C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts AgeOfPresentation:pancreaticcysts:53 AgeOfPresentation:hemangioblastoma:53 Mutation:Germline AssumedRefSeq:AF010238.1 ClinVarID:625249 ClinVarID:Yes CivicName:Q145*(c.433C>T) cDNAposition:433 ProteinPosition:145 AminoAcidChange:GLNtoTER MutationType:stop_gained Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/21972040/
  48. erc.bioscientifica.com erc.bioscientifica.com
    Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumours
    1
    1. ClingenBaseline 06 Nov 2026
      28a6Mc.353T>G2Missensep.Leu118Arg13P, mu, AP, H Asynchronous

      PatientID: 28

      KindredID: 6

      Case: M, 13Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: 2 members of this family, IDs #28 (13Y, M) and #29 (19Y, F) presented with the same variant and pheochromocytoma. Patient #28 also presented with head and neck as well as abdominal paraganglioma.

      CohortInfo: Thirty-one subjects were included in this study consisting of 16 SDHB mutation carriers and 15 subjects with VHL disease followed-up between 1975 and 2008. Subjects were included in the study if they had complete imaging from the base of the skull to the pelvis and measurements of urinary or plasma catecholamines. The case-notes and hospital databases were examined for the required data, which included: age at first symptom/diagnosis, family history, disease penetrance, site and size of tumor, symptoms, secretion of catecholamines, multifocal disease, metastatic disease, treatment and disease outcome.

      CasePresentingHPOs: HP:0009711; HP:0002668 (Pheochromocytoma, Parganglioma)

      CaseHPOFreeText: Head and neck paraganglioma, abdominal paraganglioma and multifocal pheochromocytoma. 13Y at VHL diagnosis.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L118R (c.353T>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428802, https://www.ncbi.nlm.nih.gov/clinvar/variation/428802/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: L118R (c.353T>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:paraganglioma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:353 ProteinPosition:118 AminoAcidChange:LEUtoARG ClinVarID:428802 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:L118R(c.353T>G) Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    erc.bioscientifica.com/view/journals/erc/16/2/515.xml
  49. link.springer.com link.springer.com
    Germline mutations in the von Hippel–Lindau disease (VHL) gene in mainland Chinese families
    1
    1. ClingenBaseline 06 Nov 2026
      In family 9 in our series, we identified a VHL germline mutation(470 C>T, Pro86Leu) in a 53 years old woman (proband 9) with asynchronous bilateral renal clear cell carcinomas, multiple renal cysts and pancreatic cysts and with no positive family history, in her younger brother with a single phenotype (pancreatic cysts),and in her niece with no detectable VHL lesions. It is of interest that we find the same mutation in another unrelated VHL family (family 10) in which affected patients have severe phenotypes including multiple CNS haemangioblastoma, retinal angiomas, bilateral RCCs and pancreatic cysts. Compared with the family 10, it is very likely that the affected members in the family 9 will develop CNS haemangioblastoma and retinal angiomas in the future.

      PatientID: II-1 (proband)

      KindredID: 9

      Case: F, 53Y0M, Chinese

      DiseaseAssertion: assumed VHL

      FamilyInfo: Younger brother with a pancreatic cyst was mentioned. Her kids and grandkids (III-1, III-2, IV-1, IV-2, IV-3) were all tested for the VHL gene but found to be normal. Her niece was detected with the same mutation as her but with no detectable VHL lesions. [see Fig. 2].

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

      CaseHPOFreeText: patient had bilateral renal clear cell carcinomas, multiple renal cysts and pancreatic cysts

      CaseNotHPOs: HP:0002666; HP:0010797; HP:0009711 (pheochromocytoma, hemangioblastoma, retinal capillary hemangioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P86L (c.257C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.P86L (c.470C>T)

      ClinVarID: 182977 https://www.ncbi.nlm.nih.gov/clinvar/variation/182977/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: P86L (c.257C>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma Mutation:Germline DiseaseEntity:renalcellcarcinoma DiseaseEntity:abnormalityofthepancreas RefSeq:AF010238.1 ProteinPosition:86 CivicName:P86L(c.257C>T) AminoAcidChange:PROtoLEU MutationType:missense_variant;transition ClinVarID:Yes ClinVarID:182977 Ethnicity:Chinese InheritancePattern:AutosomalDominant Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s00432-008-0399-x
  50. link.springer.com link.springer.com
    A novel missense mutation (N78D) in a family with von Hippel–Lindau disease with central nervous system haemangioblastomas, pancreatic and renal cysts
    1
    1. ClingenBaseline 06 Nov 2026
      In a family with VHL, we identified a novel missense mutation (N78D), which affects a fully conserved residue in the VHL protein. Interestingly, several other missense mutations reported at same codon in the VHL protein that might be associated with a low risk of renal cell carcinoma (RCC) but not pheochromocytoma appear to be associated with a VHL type 1 phenotype. At the moment, RCC is present in none of the affected mutation carriers in the family described here. In contrast to other missense changes at codon 78, the change in our VHL family is predicted to have a mild effect on VHL function, which apparently is insufficient to cause predisposition to RCC.

      PatientID: II-3

      KindredID: 1

      Case: F, 35Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Reported 3 siblings (II:3, II:6, II:7) of a family clinically diagnosed as having VHL type 1 was identified with the c.232A>G mutation. Two female siblings (II:1, II:2) died from CHB. Three (II:3, II:6, II:7) of the ten siblings had multiple CNS haemangioblastomas, and all tested positive for the mutation. The age of onset for all patients varied from 20 to 25 years, and it was likely inherited from the mother who had died at the age of 40 years due to haemangioblastoma (in the medulla oblongata), and hydrocephalus after having multiple operations.

      CasePresentingHPOs: HP:0009713; HP:0006880; HP:0030393; HP:0001737; HP:0000107 (spinal hemangioblastoma, cerebellar hemangioblastoma; endolymphatic sac tumor; pancreatic cysts; renal cyst)

      CaseHPOFreeText: Patient presented with headache, tinnitus and abdominal pain. She had a history of endolymphatic sac tumors (ELSTs) treated by surgery. She had cerebellar/spinal haemangioblastomas, pancreas and kidney cystic masses.

      CaseNotHPOs: HP:0005584 (renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N78D (c.232A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625226 https://www.ncbi.nlm.nih.gov/clinvar/variation/625226/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: N78D (c.232A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:spinalhemangioblastoma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:endolymphaticsactumor DiseaseEntity:pancreaticcysts DiseaseEntity:renalcyst ProteinPosition:78 cDNAposition:232 CivicName:N78D(c.232A>G) AminoAcidChange:ASNtoASP MutationType:missense_variant;transition ClinVarID:625226 ClinVarID:Yes AssumedRefSeq:NM_000551.3 Mutation:Germline Familial FamilyPedigree ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s10689-012-9586-7
  51. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype–phenotype correlations in von Hippel-Lindau disease
    2
    1. ClingenBaseline 06 Nov 2026

      GroupID: 39

      Case: 45Y0M, 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:0009711; HP:0006880; HP:0005584 (retinal capillary hemangioma; cerebellar hemangioblastoma; renal cell carcinoma)

      CaseHPOFreeText: patient had retinal capillary hemangioma diagnosed at 45Y, cerebellar hemangioblastomas diagnosed at 24Y, and RCC at 45Y

      CaseNotHPOs: HP:0002666 (pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S1.

      Variant: p.K196Rfs*59 (c.584_585delAG) 

      LegacyVariant: N/A

      CaseProblemVariantFreeText: This mutation also automaps to NM_000551.3:c.585_586delGA

      ClinVarID: 547831 https://www.ncbi.nlm.nih.gov/clinvar/variation/547831/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_2_frameshift_variant

      CivicName: K196fs (c.584_585delAG)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:renalcellcarcinoma AgeOfPresentation:retinalcapillaryhemangioma:45 AgeOfPresentation:renalcellcarcinoma:45 AgeOfPresentation:cerebellarhemangioblastoma:24 MutationType:minus_2_frameshift_variant ClinVarID:547831 ClinVarID:Yes ProteinPosition:196 cDNAposition:584 CivicName:K196fs(c.584_585delAG) AminoAcidChange:LYStoARG NoFamilyInfo Mutation:Germline RefSeq:NM_000551.2 InheritancePattern:AutosomalDominant SupplementalData ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 06 Nov 2026

      Genotype-phenotype correlations of 573 VHL patients were analyzed and confirmed that higher risk of pheochromocytoma is associated with missense mutations that result in substitution of a surface amino acid or that disrupt the structural integrity of the VHL gene product (pVHL). This mutation (c.472C>G) was found in a VHL type 1 patient pf 21Y old, with retinal hemangioblastomas and cerebellar hemangioblastomas. ACMG codes as follows: Supporting evidence of pathogenicity because Missense variant in a gene that has a low rate of benign missense variation and where missense variants are a common mechanism of disease (PP2).

      EvidenceStatement ClinVarID:567944 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.20385
  52. www.sciencedirect.com www.sciencedirect.com
    Epididymal cystadenomas in von Hippel-Lindau disease
    1
    1. ClingenBaseline 06 Nov 2026

      56 male patients age 12 to 76 years, from 40 families with VHL were examined as part of a larger screening program for VHL. VHL mutations were identified in 16 families. Individual patient phenotype-genotype data was not available, but the mutations found and whether the corresponding patient had epididymal cystadenoma (EC) was reported. A c.526delA VHL mutation was found in a VHL patient without EC. This mutation was referred to in the paper as c.739delA due to a difference in transcript sequence.

      ClinVarID:625257 EvidenceStatement inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    sciencedirect.com/science/article/pii/S0090429597000745
  53. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Molecularly genetic analysis of von Hippel-Lindau associated central nervous system hemangioblastoma
    1
    1. ClingenBaseline 06 Nov 2026

      14 Chinese patients from 10 families were diagnosed with Von Hippel-Lindau disease based on clinical criteria. Genetic testing using single-strand conformation polymorphism (SSCP) was conducted and aberrant bands were purified and sequenced. 2 families were discussed with the same mutation, a c.529A>T stop mutation in the VHL gene (stated as c.742A>T in the paper which used the Latif sequence as reference). Patient 10, belonging to family VI presented with CNS hemangioblastomas and retinal capillary hemangioma. No family information was discussed. Patient 11, belonging to family VII presented with CNS hemangioblastomas and died at 28 from a pancreatic tumor. No family information was discussed for this patient either.

      EvidenceStatement ClinVarID:625258 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1111/j.1440-1827.2010.02540.x
  54. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    In Silico Analysis Identification of a Novel Germ-Line VHL Mutation in a Patient of Malignant Pheochromocytoma
    1
    1. ClingenBaseline 06 Nov 2026
      missense mutation at codon 194 (V194G) in exon 3

      A 17-year-old female was referred for paroxysmal supraventricular tachycardia and anemia. SHe had a 2-year history of episodic sweating and palpitations. She was diagnosed with a left adrenal pheochromocytoma. A left adrenalectomy was performed. One month after the left adrenalectomy, CT and 131I-MIBG scintigraphy showed a mass in the para-aortic region located superior to the left adrenal gland; later, histology confirmed this to be an extraadrenal pheochromocytoma. A second laparoscopic surgery was performed to remove a para-aortic mass. Six months after surgery, metastatic lesions were suspected in the lung, enlarged iliac lymph nodes, bilateral iliac masses, and a lumbar spinal mass. The histopathologic findings of thoracoscopic lung biopsy specimens confirmed metastasis of the malignant pheochromocytoma. Genetic testing confirmed a novel missense mutation at codon 194 (V194G) in exon 3 of the VHL gene, which was inherited from the paternal allele, and a loss of heterozygosity was noted in 3 of the patient's distinct tumors. Two independent in silico analyses suggested that this amino acid substitution was pathogenic.

      EvidenceStatement ClinVarID:428810 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/24518179/
  55. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Coexistence of VHL Disease and CPT2 Deficiency: A Case Report
    1
    1. ClingenBaseline 06 Nov 2026
      maternal aunts

      PatientID: IV-10

      KindredID: 1

      Case: F, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: The proband (V-5), his mother (IV-8), maternal grandmother (III-6), maternal aunts (IV-10, IV-12), cousin (V-9) and brother (V-6) were found to harbour the VHL mutation p.P86A (c.256 C>G). All were symptomatic of VHL except for his cousin.

      CasePresentingHPOs: HP:0010797; HP:0009711; HP:0030405 (Hemangioblastoma, Retinal capillary hemangioma, Pancreatic endocrine tumor)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 7728151(family 4416); 20375333

      SupplementalData: Information obtained from Figure 1.

      Variant: p.P86A (c.256 C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 93327, https://www.ncbi.nlm.nih.gov/clinvar/variation/93327/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: P86A (c.256C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticendocrinetumor Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoALA ClinVarID:93327 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:P86A(c.256C>G) Familial FamilyPedigree SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5080814/
  56. www.sciencedirect.com www.sciencedirect.com
    Ca2+ is an intracellular danger signal promoting STING activation
    19
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    sciencedirect.com/science/article/pii/S1097276526007136
  57. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Management of Gene Variants of Unknown Significance: Analysis Method and Risk Assessment of the VHL Mutation p.P81S (c.241C>T)
    1
    1. ClingenBaseline 06 Nov 2026

      PatientID: None

      KindredID: 1

      Case: M, 2Y0M, Danish

      DiseaseAssertion:Asymptomatic

      FamilyInfo: The patient's father had the p.P2P VHL mutation as well as another VHL mutation (p.P81S) and presented with renal cell carcinoma. The patient's uncles had this p.P81S mutation but were both asymptomatic. The patient's paternal grandmother also had this mutation and had breast cancer. See Figure 1 for family pedigree.

      CasePresentingHPOs: N/A

      CaseHPOFreeText:N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P2= (c.6C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 456593 https://www.ncbi.nlm.nih.gov/clinvar/variation/456593/

      CAID: N/A

      gnomAD: 0.000 https://gnomad.broadinstitute.org/variant/3-10183537-C-G

      VariantEvidence: N/A

      MutationType: synonymous_variant

      CivicName: P2= (c.6C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:asymptomatic Ethnicity:Danish Familial FamilyPedigree CivicName:P2=(c.6C>G) Mutation:Germline ProteinPosition:2 cDNAposition:6 AminoAcidChange:PROtoPRO MutationType:missense_variant;transversion ClinVarID:456593 ClinVarID:Yes MutationType:synonymous_variant 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/PMC5321774/
  58. www.proquest.com www.proquest.com
    Bilateral pheochromocytoma as first manifestation of von Hippel-Lindau disease: a case report - ProQuest
    1
    1. ClingenBaseline 06 Nov 2026
      A 1 0-year-old boy was admitted to our hospital with complaints of headache and diplopia. On physical examination, he weighed 40 kg (7590p), with a height of 142 cm (50-75p). His brachial blood pressure was 150/120 mmHg (95th percentile 123/81 mmHg). His mother had been operated for bilateral pheochromocytoma at the age of 23 and had not been under medical follow-up since then. Laboratory tests showed elevated 24-hour (h) urinary vanillylmandelic acid (VMA) (40 mg/day; normal value 1-11) and normetanephrine (>2000 µg/day), but normal metanephrine levels (143 µg/day). Abdominal magnetic resonance imaging (MRI) indicated the presence of multiple lesions in perivascular areas neighboring both adrenal glands. An iodine 123 metaiodobenzylguanidine (MIBG) scan revealed multiple focal areas of increased uptake near the adrenal glands. After the preparation for operation, bilateral subtotal adrenalectomy including removal of the masses was performed. The diagnosis of bilateral pheochromocytoma was confirmed histologically and immunohistochemically. The patient remained asymptomatic with no laboratory or radiologic abnormalities for six years of follow-up. At the age of 16, the patient was referred to our clinic with visual defect in the left eye. Ophthalmologic examination led to the diagnosis of bilateral retinal hemangiomas, and he underwent laser photocoagulation. Positive family history with bilateral pheochromocytoma and retinal hemangioma revealed the diagnosis of VHL disease. Cerebral, spinal MRI and abdominal computed tomography (CT) were normal.

      PatientID: Proband

      KindredID: 1

      Case: M, 10Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Mother was found with the same VHL germline variant. His mother presented with bilateral pheochromocytoma.

      CasePresentingHPOs: HP:0002315; HP:0000651; HP:0002666; HP:0009711; HP:0000822 (Headache, Diplopia, Pheochromocytoma, Retinal capillary hemangioma, Hypertension)

      CaseHPOFreeText: Admitted with complaints of headache and diplopia. MRI indicated the presence of multiple lesions in perivascular areas neighboring both adrenal glands. An iodine 123 metaiodobenzylguanidine (MIBG) scan revealed multiple focal areas of increased uptake near the adrenal glands. The diagnosis of bilateral pheochromocytoma was confirmed histologically and immunohistochemically. The patient remained asymptomatic with no laboratory or radiologic abnormalities for six years of follow-up. At the age of 16, the patient was referred to our clinic with a visual defect in the left eye. Ophthalmologic examination led to the diagnosis of bilateral retinal hemangiomas, and he underwent laser photocoagulation.

      CaseNotHPOs: HP:0009713; HP:0006880 (Spinal hemangioblastoma, Cerebellar hemangioblastoma)

      CaseNotHPOFreeText: Cerebral, spinal MRI and abdominal computed tomography (CT) were normal.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161Q (c.482G>A)

      LegacyVariant: c.695G>A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182983, https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Variant was reported as “c.695G>A” which was mapped to p.Arg161Gln (c.482G>A) in accordance with reference sequence NM_000551.3.

      MutationType: missense_variant;transition

      CivicName: R161Q (c.482G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:headache DiseaseEntity:diplopia DiseaseEntity:hypertension AgeOfPresentation:pheochromocytoma:10 AgeOfPresentation:retinalcapillaryhemangioma:16 AgeOfPresentation:headache:10 AgeOfPresentation:diplopia:10 AgeOfPresentation:hypertension:10 Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:482 ProteinPosition:161 ClinVarID:182983 ClinVarID:Yes MutationType:missense_variant;transition CivicName:R161Q(c.482G>A) Familial AminoAcidChange:ARGtoGLN inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    proquest.com/docview/1317656373
  59. www-sciencedirect-com.myaccess.library.utoronto.ca www-sciencedirect-com.myaccess.library.utoronto.ca
    Whole-Exome Sequencing Reveals Novel Variations in Patients with Familial Von Hippel-Lindau Syndrome
    1
    1. ClingenBaseline 06 Nov 2026
      IV2(A002)−−−−−Female

      PatientID: (IV2)A002

      KindredID: A

      Case: F, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Asymptomatic

      FamilyInfo: Patient’s father possessed the same variant and presented with a CNS hemangioblastoma, clear cell renal cell carcinoma and pancreatic cystic disease. As well, patient’s paternal grandmother, two granduncles, and grandaunt-in-law had hemangioblastomas and are not longer alive. Proband's uncle also had a hemangioblastoma (please see figure 1 for pedigree).

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0010797; HP:0001737; HP:0002666; HP:0009919; HP:0006770 (Hemangioblastoma; pancreatic cysts; pheochromocytoma, retinoblastoma, Clear cell renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P86S (c.256C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 178692, https://www.ncbi.nlm.nih.gov/clinvar/variation/178692/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Variant reported as GRCh37 chr3:10183787C>T in paper; individual is a T homozygote

      MutationType: missense_variant; transition

      CivicName: P86S (c.256C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:NM_000551.3 DiseaseEntity:asymptomatic Familial FamilyPedigree CivicName:P86S(c.256C>T) cDNAPosition:256 ProteinPosition:86 AminoAcidChange:PROtoSER ClinVarID:178692 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    www-sciencedirect-com.myaccess.library.utoronto.ca/science/article/pii/S1878875021004599
  60. cancerres.aacrjournals.org cancerres.aacrjournals.org
    Telomere Shortening Is Associated with Genetic Anticipation in Chinese Von Hippel–Lindau Disease Families
    1
    1. ClingenBaseline 06 Nov 2026
      c.263G>A p.Trp88Stop

      PatientID: None (proband 11)

      KindredID: 11

      Case: M, 38Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: Patient’s mother (last known age 36Y) had a CNS hemangioblastoma diagnosed at 36Y.

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

      CaseHPOFreeText: RCC and multiple pancreatic cysts or tumors diagnosed at age 34 and 38Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 22357542

      SupplementalData: N/A

      Variant: p.W88* (c.263G>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 182978 https://www.ncbi.nlm.nih.gov/clinvar/variation/182978/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: W88* (c.263G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts AgeOfPresentation:renalcellcarcinoma:34 AgeOfPresentation:pancreaticcysts:38 ClinVarID:182978 ClinVarID:Yes PreviouslyPublished ExperimentalAssay Familial AssumedRefSeq:NM_000551.3 Mutation:Germline MutationType:stop_gained AminoAcidChange:TRPtoTER ProteinPosition:88 CivicName:W88*(c.263G>A) cDNAposition:263 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    cancerres.aacrjournals.org/content/74/14/3802
  61. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study
    1
    1. ClingenBaseline 06 Nov 2026
      VHLE3c.482G>Ap.R161Q

      314 Chinese patients with Pheochromocytoma/paraganglioma (PPGL) from Peking Union Medical College Hospital, China, were included in this study for germline profiling. The majority of patients underwent surgery and were histopathologically diagnosed with PPGL. For patients who had an unresectable or metastatic tumor, PPGL diagnosis was determined based on clinical features (headache, palpitations, sweating, etc). Genomic DNA was extracted from peripheral blood of all 314 PPGL patients, and detect potential variants in 12 known genes associated with hereditary PPGL (SDHA, SDHB, SDHC, SDHD, SDHAF2, FH, VHL, RET, NF1, MAX, TMEM127, and KIF1B) using next-generation and Sanger sequencing. Germline variants were detected in 29% of the 314 PPGL patients. Germline genetic testing revealed a missense R161Q(c.482G>A) variant in exon 3 of the VHL gene in 2 patients. Patient #90 is a 23Y male PPGL patient who first presented with bilateral pheochromocytoma and retroperitoneal paraganglioma at age 19 and was also diagnosed at age 19. Patient 90 has a family history of PPGL, not further detailed. Patient #91 is a female PPGL patient who first presented with bilateral pheochromocytoma and retroperitoneal paraganglioma at age 10 and was also diagnosed at age 10. She was 28-years-old when metastasis was detected. She does not have a family history of PPGL.

      EvidenceStatement ClinVarID:182983 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC7761866/
  62. 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 06 Nov 2026

      20 vHL families were retrospectively identified in SickKids Genetics and Cancer Genetics Program SHIRE genetics database, with data entered between 30 August 1984 and 8 August 2016. Family 19 had 5 members confirmed with the stop gained mutation c,263G>A (stated as c.476G>A in the paper which used the Latif sequence as reference). The proband (male), cousin (female), and first cousin once removed (male) did not have any manifestations and their last known age was 12Y, 8Y and 27Y respectively. The uncle was found with hemangioblastoma at 28Y and died at 29Y. The mother was found with hemangioblastoma; renal cell carcinoma; pancreatic cysts/tumors; renal cysts/tumors and had an age of onset of 17Y and was 33Y at the time of the study. This family was later published in 31368132.

      EvidenceStatement ClinVarID:182978 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
  63. academic.oup.com academic.oup.com
    Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma
    1
    1. ClingenBaseline 06 Nov 2026

      PatientID: None

      KindredID: VHL22

      Case: M, 40Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

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

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: The patient had one benign pheochromocytoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/SDHB/SDHC/SDHD

      PreviouslyPublished: N/A

      SupplementalData: Table 1 of Supplementary

      Variant: p.L178P (c.533T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428795, https://www.ncbi.nlm.nih.gov/clinvar/variation/428795/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: The patient had LOH found in the BAC array CGH data.

      MutationType: missense_variant;transition

      CivicName: L178P (c.533T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:40 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:533 ProteinPosition:178 AminoAcidChange:LEUtoPRO ClinVarID:428795 ClinVarID:Yes MutationType:missense_variant;transition CivicName:L178P(c.533T>C) PreviousTesting:RET/SDHB/SDHC/SDHD NoFamilyInfo SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    academic.oup.com/hmg/article/20/20/3974/696619
  64. www-sciencedirect-com.uhn.idm.oclc.org www-sciencedirect-com.uhn.idm.oclc.org
    Endolymphatic sac tumor (aggressive papillary tumor of middle ear and temporal bone): Report of two cases with analysis of the VHL gene
    1
    1. ClingenBaseline 06 Nov 2026
      Case 1: Clinical historyA 25-year-old woman presented with a 1-year history of slowly progressive and gradual decrease in hearing. Two years previously, the patient had undergone brain surgery because of hemangioblastoma of the cerebellum. Gene analysis performed at that time showed mutation in VHL gene in exon 1 TCG(Ser65)→TTG(Leu). On physical examination, she was found to have a middle ear mass that protruded into the external auditory canal. Bone destruction was found radiographically. At surgery, vascular tumor tissue and cysts were seen permeating and destroying the adjacent petrous portion of the temporal bone with invasion of the mastoid and the semicircular canal. The patient underwent a complete removal of the tumor from the middle ear, mastoid, and petrous bone. However, recurrent destructive tumor of the middle ear appeared after 26 months.Family historyThe family medical history disclosed the presence of symptoms of VHLD in the patient's grandfather, uncle, and father. In particular, the patient's father presented with multi-tumor syndrome and evidence of genetic VHLD due to causal mutation in VHL gene in exon 1 TCG(Ser65)→TTG(Leu). At the age of 30, he was operated on for cerebellar hemangioblastoma, and died of disseminated bilateral renal cell carcinoma of kidneys with multi-organ distant metastases 13 years later at the age of 43.

      PatientID: 1

      KindredID: 1

      Case: F, 25Y0M, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: The family medical history disclosed the presence of symptoms of VHLD in the patient’s grandfather, uncle, and father. In particular, the patient’s father presented with multi-tumor syndrome and a confirmed genetic mutation of c.194C>T. The father died of disseminated bilateral renal cell carcinoma of kidneys with multi-organ distant metastases at the age of 43.

      CasePresentingHPOs: HP:0006880;HP:0030393 (cerebellar hemangioblastoma, endolymphatic sac tumour)

      CaseHPOFreeText: Woman presented with slowly progressive and gradual decrease in hearing (beginning at 24Y). At 23Y the patient had undergone brain surgery because of hemangioblastoma of the cerebellum. Physical examination revealed a middle ear mass that protruded into the external auditory canal (recurrent restrictive tumor)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S65L (c.194C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182975, https://www.ncbi.nlm.nih.gov/clinvar/variation/182975/

      CAID: N/A

      gnomAD: https://gnomad.broadinstitute.org/variant/3-10183725-C-T

      VariantEvidence: genetic tests on tissue but suspected germline because father had same mutation, and 2 different tissue samples had same mutation; grandfather and uncle had VHL symptoms but not specified and no genetic confirmation

      MutationType: missense_variant;transition

      CivicName: S65L (c.194C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:endolymphaticsactumor AgeOfPresentation:endolymphaticsactumor:23 AgeOfPresentation:cerebellarhemangioblastoma:23 Mutation:Germline RefSeq:AF010238.1 cDNAposition:194 CivicName:S65L(c.194C>T) ProteinPosition:65 AminoAcidChange:SERtoLEU MutationType:missense_variant;transition ClinVarID:182975 ClinVarID:Yes Familial ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    www-sciencedirect-com.uhn.idm.oclc.org/science/article/pii/S0344033808000484
  65. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Three novel mutations in the von Hippel-Lindau tumour suppressor gene in Italian patients
    1
    1. ClingenBaseline 06 Nov 2026

      In a report of 3 novel VHL mutations in VHL Italian families, blood samples were obtained from 22 individuals of 5 families (13 affected individuals, 5 at-risk individuals, and 4 healthy parents); and PCR and SSCP analysis was performed. A missense mutation (p.N78S) was found in a family of 2 twin patients whose parents appeared to be clinically normal. Paternity and monozygosity of the 2 twins was ascertained and direct sequencing was completed resulting in a de novo missense mutation in these twins. The twins belong to family V5PG, both found with hemangioblastomas and 1 also with retinal hemangioblastomas. The mutation was referred to in the paper by c.446A>G due to a difference in transcript sequence.

      ClinVarID:93326 EvidenceStatement inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.1380110185