27 Matching Annotations
  1. Last 7 days
  2. 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 05 Nov 2026
      gross deletions (4/16)

      PatientID: 15

      KindredID: 15

      Case: 34Y0M, Sex Unknown, Argentinian

      DiseaseAssertion: VHL

      FamilyInfo: Positive family history

      CasePresentingHPOs: HP:0006770; HP:0001737; HP:0000107; HP:0030393 (clear cell renal cell carcinoma; pancreatic cysts; renal cyst; endolymphatic sac tumor)

      CaseHPOFreeText: Aged 34Y at diagnosis (genetic testing); fulfils type 1 VHL clinical diagnosis. ccRCC, pancreatic cysts, renal cysts, and endolymphatic sac tumors were all diagnosed at 34Y (See Table 1 & 2).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: exon 3 deletion

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

      CivicName: Exon 3 Deletion

      MultipleGeneVariants: N/A

      Ethnicity:Argentinian DiseaseEntity:VHL DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:pancreaticcysts DiseaseEntity:renalcyst DiseaseEntity:endolymphaticsactumor AgeOfPresentation:clearcellrenalcellcarcinoma:34 AgeOfPresentation:pancreaticcysts:34 AgeOfPresentation:renalcyst:34 AgeOfPresentation:endolymphaticsactumor:34 Mutation:Germline RefSeq:NM_000551.3 CivicName:Exon3Deletion MutationType:exon_loss_variant NonFamilial UnregisteredVariant CAID:N/A ClinVarID:N/A ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    liebertpub.com/doi/10.1089/gtmb.2016.0204
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients
    2
    1. ClingenBaseline 05 Nov 2026
      We identified deletions ranging from 0.5 kb to 250 kb affecting part of or the entire VHL and flanking genes in 54 families.

      GroupID: 26

      DiseaseAssertion: VHL

      GroupSize: N/A GroupNumberMales: N/A GroupNumberFemales: N/A GroupEthnicity: N/A GroupAgeRange: N/A

      GroupInfo: 54 VHL deletion families from the Freiburg registry were selected in order to assist in the correlation of VHL deletions to clinical phenotypes.

      GroupPresentingHPOs: HP:0005584; HP:0000107; HP:0009711; HP:0010797; HP:0009713; HP:0030393; HP:0001737; HP:0030424 (Renal cell carcinoma, Renal cyst, Retinal capillary hemangioma, Hemangioblastoma, Spinal hemangioblastoma, Endolymphatic sac tumor, Pancreatic cysts, Epididymal cyst)

      GroupHPOFreeText: # of affected individuals: Renal cell carcinoma (1), Renal cyst (1), Retinal capillary hemangioma (1), Hemangioblastoma/brain/cerebellum (1), Spinal hemangioblastoma (1), Endolymphatic sac tumor (1), Pancreatic cysts (1), Epididymal cyst (1)

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplemental Table 2, Table 1, Table 3

      Variant: Exon 3 Deletion (c.464-?_642+?del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

      CivicName: Exon 3 Deletion

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts DiseaseEntity:renalcyst DiseaseEntity:spinalhemangioblastoma DiseaseEntity:endolymphaticsactumor DiseaseEntity:epididymalcyst Mutation:Germline RefSeq:NM_000551.2 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A MutationType:exon_loss_variant CivicName:Exon3Deletion Familial FamilyCohort SupplementalData UnregisteredVariant inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 30 Oct 2026
      We identified deletions ranging from 0.5 kb to 250 kb affecting part of or the entire VHL and flanking genes in 54 families.

      GroupID: 32

      DiseaseAssertion: VHL

      GroupSize: N/A GroupNumberMales: N/A GroupNumberFemales: N/A GroupEthnicity: N/A GroupAgeRange: N/A

      GroupInfo: 54 VHL deletion families from the Freiburg registry were selected in order to assist in the correlation of VHL deletions to clinical phenotypes.

      GroupPresentingHPOs: HP:0000107; HP:0009711; HP:0010797; HP:0009713; HP:0001737 (Renal cyst, Retinal capillary hemangioma, Hemangioblastoma, Spinal hemangioblastoma, Pancreatic cysts)

      GroupHPOFreeText: # of affected individuals: Renal cyst (1), Retinal capillary hemangioma (1), Hemangioblastoma/brain/cerebellum (1), Spinal hemangioblastoma (1), Pancreatic cysts/single cyst (1)

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplemental Table 2, Table 1, Table 3

      Variant: Exon 3 Deletion (c.464-?_642+?del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

      CivicName: Exon 3 Deletion

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts DiseaseEntity:spinalhemangioblastoma Mutation:Germline RefSeq:NM_000551.2 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A MutationType:exon_loss_variant CivicName:Exon3Deletion Familial FamilyCohort SupplementalData UnregisteredVariant inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/19280651/
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Cardiac Involvement in Von Hippel-Lindau Disease
    1
    1. ClingenBaseline 05 Nov 2026
      We present the case of a 22-year-old woman who was diagnosed in childhood with type IIb VHL, with known multiple retinal angiomas, pancreatic cysts, and spinal and cerebellar hemangioblastomas. She was admitted to our hospital complaining of progressive dyspnea and palpitations. On examination, her blood pressure was 159/119 mm Hg and her pulse was 123 bpm. Physical examination revealed a systolic murmur at the mitral focus with irradiation to the axilla and pulmonary rales. Electrocardiography revealed no remarkable findings, except for sinus tachycardia. Laboratory tests showed an elevated N-terminal pro-brain natriuretic peptide and chest X-ray showed signs of pulmonary interstitial edema. The patient was admitted to the Department of Cardiology with the diagnosis of acute decompensated heart failure. Transthoracic echocardiography showed a dilated left ventricle with severely depressed ejection fraction due to generalized hypokinesia and a mild mitral regurgitation (fig. ​(fig.1a).1a). During admission, the patient had several episodes of paroxysmal dyspnea despite treatment with β-blockers and diuretics. Due to the clinical suspicion of adrenal gland disease, 24-hour urinary catecholamine and metanephrine tests were requested. Cardiac MRI was performed in order to complete the cardiomyopathy study, and confirmed the echocardiographic findings as well as revealed an incidental finding of a great left renal mass. The 24-hour urine laboratory tests showed markedly elevated levels of norepinephrine, total catecholamines, normetanephrine and metanephrine with normal epinephrine values: 24-hour norepinephrine 468 μg (normal range: 23-105), 24-hour epinephrine 13 μg (normal range: 4-20), 24-hour total catecholamines 658 μg (normal range: 217-575), 24-hour normetanephrine 2,988 μg (normal range: 105-354), 24-hour total metanephrine 3,013 μg (normal range: 0-1,000). Therefore, an abdominal MRI was performed, which showed the presence of two cystic masses (fig. ​(fig.2)2) located at the left hypochondrium. Surgical resection of both masses was performed (after α-blockade with phenoxybenzamine and β-blockade with propranolol) through a laparoscopic approach, confirming the diagnosis of pheochromocytoma and clear cell renal carcinoma on histology. During follow-up, blood pressure and heart rate values normalized (124/77 mm Hg, 78 bpm), 24-hour urinary catecholamine values returned to normal range (norepinephrine 69 μg/24 h, total catecholamine 221 μg/24 h, normetanephrine 202 μg/24 h and total metanephrine 259 μg/24 h) and the patient had no new episodes of palpitations or dyspnea. Six months after surgical resection, echocardiography was repeated and showed a left ventricle with normal diameters and preserved ejection fraction (fig. ​(fig.1b).1b). Genetic analysis revealed a germline mutation (exon 3 deletion) of the VHL tumor suppressor gene on the short arm of chromosome 3. As the patient had no family history of VHL, it was concluded that it was a de novo mutation.

      PatientID: None

      KindredID: 1

      Case: F, 22Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: No family history of VHL, it was concluded that it was a de novo mutation.

      CasePresentingHPOs: HP:0009711; HP:0001737; HP:0009713; HP:0006880; HP:0002094; HP:0001962; HP:0011703; HP:0031664; HP:0001635; HP:0002375; HP:0001653; HP:0002666; HP:0006770 (Retinal capillary hemangioma, Pancreatic cysts, Spinal hemangioblastoma, Cerebellar hemangioblastoma, Dyspnea, Palpitations, Sinus tachycardia, Systolic heart murmur, Congestive heart failure, Hypokinesia, Mitral regurgitation, Pheochromocytoma, Clear cell renal cell carcinoma)

      CaseHPOFreeText: 22-year-old woman who was diagnosed in childhood with type IIb VHL, with known multiple retinal angiomas, pancreatic cysts, and spinal and cerebellar hemangioblastomas. She was admitted to our hospital complaining of progressive dyspnea and palpitations. Physical examination revealed a systolic murmur at the mitral focus with irradiation to the axilla and pulmonary rales. Electrocardiography revealed no remarkable findings, except for sinus tachycardia. Chest X-ray showed signs of pulmonary interstitial edema. The patient was admitted to the Department of Cardiology with the diagnosis of acute decompensated heart failure. Transthoracic echocardiography showed a dilated left ventricle with severely depressed ejection fraction due to generalized hypokinesia and a mild mitral regurgitation. During admission, the patient had several episodes of paroxysmal dyspnea. Cardiac MRI was performed in order to complete the cardiomyopathy study, and confirmed the echocardiographic findings as well as revealed an incidental finding of a great left renal mass. Abdominal MRI was performed, which showed the presence of two cystic masses located at the left hypochondrium confirming the diagnosis of pheochromocytoma and clear cell renal carcinoma on histology.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Exon 3 Deletion (c.464-?_642+?del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

      CivicName: Exon 3 Deletion

      MultipleGeneVariants: N/A

      InheritancePattern:DeNovoAssertion DiseaseEntity:VHL DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:pheochromocytoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pancreaticcysts DiseaseEntity:spinalhemangioblastoma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:dyspnea DiseaseEntity:palpitations DiseaseEntity:sinustachycardia DiseaseEntity:systolicheartmurmur DiseaseEntity:congestiveheartfailure DiseaseEntity:hypokinesia DiseaseEntity:mitralregurgitation AgeOfPresentation:clearcellrenalcellcarcinoma:22 AgeOfPresentation:pheochromocytoma:22 AgeOfPresentation:dyspnea:22 AgeOfPresentation:palpitations:22 AgeOfPresentation:sinustachycardia:22 AgeOfPresentation:systolicheartmurmur:22 AgeOfPresentation:congestiveheartfailure:22 AgeOfPresentation:hypokinesia:22 AgeOfPresentation:mitralregurgitation:22 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A UnregisteredVariant MutationType:exon_loss_variant CivicName:Exon3Deletion deNovoConfirmed inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5588357/
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype-phenotype correlations in Chinese von Hippel–Lindau disease patients
    3
    1. ClingenBaseline 04 Nov 2026

      PatientID: 290

      KindredID: 114

      Case: M, 41Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: N/A

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

      CaseHPOFreeText: The proband presented with a CNS hemangioblastoma at age 38, and at age 41 presented with a retinal angioma, renal cell carcinoma, and multiple pancreatic cysts/tumors.

      CaseNotHPOs: HP:0002666 (Pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

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

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

      Variant: Exon 3 Deletion (c.464-?_642+?del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

      CivicName: Exon 3 Deletion

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma DiseaseEntity:abnormalityofthepancreas DiseaseEntity:pancreaticcysts AgeOfPresentation:hemangioblastoma:38 AgeOfPresentation:retinalcapillaryhemangioma:41 AgeOfPresentation:renalcellcarcinoma:41 AgeOfPresentation:pancreaticcysts:41 AgeOfPresentation:abnormalityofthepancreas:41 MutationType:exon_loss_variant UnregisteredVariant CivicName:Exon3Deletion Familial SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 04 Nov 2026

      PatientID: 291

      KindredID: 115

      Case: M, 31Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797; HP:0001732; HP:0001737; HP:0005584; HP:0002666 (Hemangioblastoma, Abnormality of the pancreas, Pancreatic cysts, Renal cell carcinoma, Pheochromocytoma)

      CaseHPOFreeText: The proband, patient 291, presented with a CNS hemangioblastoma at 27, and at 31 presented with renal cell carcinoma, multiple pancreatic cysts/tumors, and pheochromocytoma.

      CaseNotHPOs: HP:0009711 (Retinal capillary hemangioma)

      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: Exon 3 Deletion (c.464-?_642+?del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

      CivicName: Exon 3 Deletion

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:abnormalityofthepancreas DiseaseEntity:pancreaticcysts DiseaseEntity:pheochromocytoma AgeOfPresentation:hemangioblastoma:27 AgeOfPresentation:renalcellcarcinoma:31 AgeOfPresentation:pancreaticcysts:31 AgeOfPresentation:abnormalityofthepancreas:31 AgeOfPresentation:pheochromocytoma:31 MutationType:exon_loss_variant UnregisteredVariant CivicName:Exon3Deletion Familial SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    3. ClingenBaseline 30 Oct 2026

      PatientID: 288

      KindredID: 113

      Case: M, 24Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The proband (patient 288) presented with a CNS hemangioblastoma, renal cell carcinoma, and multiple pancreatic cysts/tumors at 23, and a retinal angioma at 24. Their sister (patient 289) presented with a CNS hemangioblastoma, retinal angioma, and renal cell carcinoma at 30.

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

      CaseHPOFreeText: The proband (patient 288) presented with a CNS hemangioblastoma, renal cell carcinoma, and multiple pancreatic cysts/tumors at 23, and a retinal angioma at 24.

      CaseNotHPOs: HP:0002666 (Pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

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

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

      Variant: Exon 3 Deletion (c.464-?_642+?del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

      CivicName: Exon 3 Deletion

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma DiseaseEntity:abnormalityofthepancreas DiseaseEntity:pancreaticcysts AgeOfPresentation:hemangioblastoma:23 AgeOfPresentation:retinalcapillaryhemangioma:24 AgeOfPresentation:renalcellcarcinoma:23 AgeOfPresentation:pancreaticcysts:23 AgeOfPresentation:abnormalityofthepancreas:23 MutationType:exon_loss_variant UnregisteredVariant CivicName:Exon3Deletion Familial SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5503545/
  6. www.tandfonline.com www.tandfonline.com
    Genotype-phenotype Correlations, and Retinal Function and Structure in von Hippel-Lindau Disease
    2
    1. ClingenBaseline 04 Nov 2026
      A deletion of exon 3 in the VHL gene was found in this family.

      PatientID: IV-1

      KindredID: Family A

      Case: M, Age unknown, Ethnicity unknown

      DiseaseAssertion: asymptomatic

      FamilyInfo: Patient’s great-grandfather (I-1), now deceased, and great-aunt (II-1) had CNS/spinal hemangioblastoma and the confirmed VHL gene mutation. His great-aunt II-2 and great-uncle II-3 both had confirmed VHL and (II-2) CNS hemangioblastoma; (II-3) with pancreatic and renal cysts. His dad (III-3) has confirmed VHL gene retinal and CNS hemangioblastoma, his aunt (III-4) had confirmed VHL and pancreatic and ovarian cysts. His uncle III-5 was found with the confirmed VHL gene mutation and retinal hemangioblastoma and CNS/spinal hemangioblastomas. III-6 with renal cell carcinoma and hemangioblastoma. Patient’s cousin IV-3, was confirmed with the VHL gene mutation although no other manifestations.

      CasePresentingHPOs: None

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Deletion of exon 3 (c.464-?_642+?del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

      CivicName: Exon 3 deletion

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:asymptomatic Mutation:Germline RefSeq:NM_000551.3 cDNAposition:464 UnregisteredVariant ClinVarID:N/A FamilyPedigree Familial ExperimentalAssay CivicName:Exon3Deletion inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 02 Nov 2026
      A deletion of exon 3 in the VHL gene was found in this family.

      PatientID: III-4

      KindredID: Family A

      Case: F, 38Y0M, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: Patient’s grandfather (I-1), now deceased, and aunt (II-1) had CNS/spinal hemangioblastoma and the confirmed VHL gene mutation. Her mom II-2 had confirmed VHL and CNS hemangioblastoma; and her cousin (III-6) has renal cell carcinoma and CNS/spinal hemangioblastoma and also the confirmed VHL gene mutation. Her uncle (II-3) has confirmed VHL gene and pancreatic and renal cysts. Her brother and sister (III-3; III-5) both were found with the confirmed VHL gene mutation; with retinal hemangioblastoma and CNS/spinal hemangioblastomas. IV-1 and IV-3, were confirmed with the VHL gene mutation although no other manifestations.

      CasePresentingHPOs:HP:0001737; HP:0000138 (pancreatic cyst; ovarian cyst)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0005584; HP:0002666; HP:0009711; HP:0010797 (renal cell carcinoma, pheochromocytoma, retinal capillary hemangioblastoma, CNS hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Deletion of exon 3 (c.464-?_642+?del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

      CivicName: Exon 3 deletion

      MultipleGeneVariants: N/A

      DiseaseEntity:pancreaticcysts DiseaseEntity:OvarianCyst DiseaseEntity:VHL InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.3 cDNAposition:464 UnregisteredVariant ClinVarID:N/A FamilyPedigree Familial ExperimentalAssay CivicName:Exon3Deletion inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    tandfonline.com/doi/full/10.3109/13816810.2014.886265
  7. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genetic analysis of von Hippel-Lindau disease
    1
    1. ClingenBaseline 04 Nov 2026

      PatientID: N/A

      KindredID: 195

      Case: Age unknown, Sex unknown, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: Paper states familial VHL

      CasePresentingHPOs: unknown

      CaseHPOFreeText: Patient had VHL, but no specific phenotypes were described

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes (Specifically Supp. Table S2)

      Variant: exon 3 deletion (c.464-?_642+?del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

      CivicName: Exon 3 Deletion 

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:VHL RefSeq:NM_000551.2 CivicName:Exon3Deletion MutationType:exon_loss_variant ExperimentalAssay Familial SupplementalData UnregisteredVariant ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/abs/10.1002/humu.21219
  8. 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 03 Nov 2026
      Partial deletions were heterozygous in size and position: one removed exon 3

      PatientID: 14

      KindredID: 14

      Case: M, 51Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: None

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

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: Previously reported, HGMD (Human Gene Mutation Database) [Refer to table 2].

      SupplementalData: N/A

      Variant: Exon 3 deletion (c.464-?_642+?del)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVar: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

      CivicName: Exon 3 deletion

      MultipleGeneVariants: N/A

      Ethnicity:Korean DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma MutationType:exon_loss_variant NoFamilyInfo RefSeq:NM_000551.2 cDNAposition:464 ClinVarID:N/A UnregisteredVariant MutationType:deletion CivicName:Exon3Deletion inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC2650969/
  9. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Familial erythrocytosis 2 and von Hippel-Lindau disease in the same pediatric patient
    1
    1. ClingenBaseline 01 Nov 2026
      Case report: We present a case of a compound heterozygote patient with von Hippel-Lindau disease and familial erythrocytosis type 2. One of the mutations found in our patient, c.416C>G (p.Ser139Cys) of the VHL gene, has not been previously reported. This case is the second one reported where von Hippel-Lindau disease and familial erythrocytosis type 2 coexist in the same individual.

      A 9-year-and-5-month old male patient was diagnosed with polyglobulia after an accident at 8 years of age. Proband's mother reported that the patient displayed fatigue and peripheral cyanosis during exercise. The physical exam showed a tumor in the right testicle. This was confirmed to be a cyst in the right epididymis was identified by a testicular ultrasound. Due to family history of VHL disease (4 generations, 12 patients with VHLd), genetic testing was performed on the mother, where an exon 3 deletion in the VHL gene was identified. The mother died due to complications of a CNS hemangioblastoma at 30Y. A peripheral blood sample was then obtained from the patient, where the same exon 3 deletion was identified by MLPA. Complete VHL gene sequencing was then performed on the proband's sample which identified a new S139C(c.416C>G) missense mutation, revealing that the patient was a compound heterozygote. This missense mutation was not previously reported. There was also no information on the proband's father; thus it is not confirmed whether the missense mutation was paternally inherited or de novo. Prediction tools such as PolyPhen2, Mutationassesor, Provean, and SIFT suggests it is deleterious. Due to the clinical presentation and molecular biology studies, the patient was diagnosed with both familial erythrocytosis type 2 and VHL disease.

      EvidenceStatement ClinVarID:135956 UnregisteredVariant CivicName:Exon3deletion CivicName:Exon3DeletionANDS139C(c.416C>G) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/33938902/
  10. journals-scholarsportal-info.myaccess.library.utoronto.ca journals-scholarsportal-info.myaccess.library.utoronto.ca
    Genotype–phenotype analysis of von Hippel–Lindau syndrome in fifteen Indian families
    1
    1. ClingenBaseline 31 Oct 2026
      P 22 25 F ? ? ? ? - - - Exon 3 del – a, distal b

      PatientID: 22

      KindredID: P

      Case: F, 25Y0M, Indian

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0001737; HP:0009711; HP:0010797 (Pancreatic cysts, Retinal capillary hemangioma, Hemangioblastoma)

      CaseHPOFreeText: Multi-cystic pancreatic lesions, retinal angioma and CNS hemangioblastoma.

      CaseNotHPOs: HP:0030393; HP:0002666; HP:0005584 (Endolymphatic sac tumor, Pheochromocytoma, Renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Exon 3 Deletion (c.464-?_642+?del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

      CivicName: Exon 3 Deletion

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Indian DiseaseEntity:VHL DiseaseEntity:pancreaticcysts DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A MutationType:exon_loss_variant UnregisteredVariant CivicName:Exon3Deletion NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    journals-scholarsportal-info.myaccess.library.utoronto.ca/pdf/13899600/v14i0004/585_gaovhsifif.xml
  11. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Associations between VHL genotype and clinical phenotype in familial von Hippel-Lindau disease
    1
    1. ClingenBaseline 30 Oct 2026
      We studied six patients with VHL disease and their relatives. Loss of heterozygosity (LOH) was determined by five flanking microsatellite polymorphic markers in the VHL locus.

      PatientID: 5

      KindredID: F03

      Case: M, Age Unknown, Taiwanese

      DiseaseAssertion: VHL

      FamilyInfo: A total of 2 members of this family (F02) had a complete deletion of the VHL gene. One of these patients (3) presented with clinical features of VHL.

      CasePresentingHPOs: HP:0010797; HP:0005584; HP:0001737 (Hemangioblastoma, Renal cell carcinoma, Pancreatic cysts)

      CaseHPOFreeText: Brain hemangioblastoma, pancreatic cyst, renal cell carcinoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Figure 1

      Variant: Exon 3 Deletion (c.464-?_642+?del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Deletion of 3.3kb resulted in deletion of Exon 3 in the VHL gene.

      MutationType: exon_loss_variant

      CivicName: Exon 3 Deletion

      MultipleGeneVariants: Germline, FANCD2, deletion

      InheritancePattern:AutosomalDominant Ethnicity:Taiwanese DiseaseEntity:VHL DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A UnregisteredVariant MutationType:exon_loss_variant CivicName:Exon3Deletion FamilyPedigree Familial SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/17537157/
  12. Oct 2026
  13. www.tandfonline.com www.tandfonline.com
    Genotype-phenotype Correlations, and Retinal Function and Structure in von Hippel-Lindau Disease
    2
    1. ClingenBaseline 29 Oct 2026
      A deletion of exon 3 in the VHL gene was found in this family.

      PatientID: II-2

      KindredID: Family A

      Case: F, 64Y0M, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: Patient’s father (I-1), now deceased, and sister (II-1) had CNS/spinal hemangioblastoma and the confirmed VHL gene mutation. Her brother also had a confirmed mutation and pancreatic and renal cysts. Her son (III-3) and 2 daughters (III-4; III-5) both were found with the confirmed VHL gene mutation; with III-3 and III-5 having retinal hemangioblastoma and CNS/spinal hemangioblastomas, and III-4 having pancreatic and ovarian cysts. IV-1 and IV-3, both males were confirmed with the VHL gene mutation although no other manifestations.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0009711; HP:0005584; HP:0002666 (retinal capillary hemangioblastoma, renal cell carcinoma, pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Deletion of exon 3 (c.464-?_642+?del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

      CivicName: Exon 3 Deletion

      MultipleGeneVariants: N/A

      DiseaseEntity:hemangioblastoma DiseaseEntity:VHL InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.3 cDNAposition:464 FamilyPedigree ClinVarID:N/A UnregisteredVariant Familial ExperimentalAssay CivicName:Exon3Deletion inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 25 Oct 2026
      A deletion of exon 3 in the VHL gene was found in this family.

      PatientID: III-5

      KindredID: Family A

      Case: F, 32Y0M, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: Patient’s grandfather (I-1), now deceased, and aunt (II-1) had CNS/spinal hemangioblastoma and the confirmed VHL gene mutation. Her mom II-2 had confirmed VHL and CNS hemangioblastoma; and her cousin (III-6) has renal cell carcinoma and CNS/spinal hemangioblastoma and also the confirmed VHL gene mutation. Her uncle (II-3) has confirmed VHL gene and pancreatic and renal cysts. Her brother and sister (III-3; III-4) both were found with the confirmed VHL gene mutation; III-3 with retinal hemangioblastoma and CNS/spinal hemangioblastomas and III-4 with pancreatic and ovarian cysts. IV-1 and IV-3, were confirmed with the VHL gene mutation although no other manifestations.

      CasePresentingHPOs: HP:0010797; HP:0009711 (CNS hemangioblastoma, retinal capillary hemangioblastoma)

      CaseHPOFreeText: developed hemangioblastoma at the optic nerve in her left eye at the age of 16. At the age of 30, patient A III-5 underwent surgery for a CNS hemangioblastoma.

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Deletion of exon 3 (c.464-?_642+?del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

      CivicName: Exon 3 Deletion

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline RefSeq:NM_000551.3 cDNAposition:464 UnregisteredVariant ClinVarID:N/A FamilyPedigree AgeOfPresentation:retinalcapillaryhemangioma:16 AgeOfPresentation:hemangioblastoma:30 Familial ExperimentalAssay CivicName:Exon3Deletion inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    tandfonline.com/doi/full/10.3109/13816810.2014.886265
  14. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Characterization of endolymphatic sac tumors and von Hippel–Lindau disease in the International Endolymphatic Sac Tumor Registry
    1
    1. ClingenBaseline 29 Oct 2026
      4 France delEx3 Germany Italy

      GroupID: 38

      DiseaseAssertion: VHL

      GroupSize: 4

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: Countries: France, Germany, Italy

      GroupAgeRange: N/A

      GroupInfo: 4 registrants from France, Germany, and Italy were grouped in this study via the deletion of exon 3

      GroupPresentingHPOs: HP:0030393 (Endolymphatic sac tumor)

      GroupHPOFreeText: N/A

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Exon 3 Deletion

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

      CivicName: Exon 3 Deletion

      MultipleGeneVariants: N/A

      CivicName:Exon3Deletion MutationType:exon_loss_variant MutationType:deletion CAID:N/A ClinVarID:N/A UnregisteredVariant Mutation:Germline RefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:endolymphaticsactumor Ethnicity:German Ethnicity:Italian Ethnicity:French inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/full/10.1002/hed.24067
  15. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype-phenotype correlation in von Hippel-Lindau disease
    1
    1. ClingenBaseline 28 Oct 2026
      1 (11)

      GroupID: 7b

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

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

      CasePresentingHPOs: N/A

      CaseHPOFreeText: This individual patient was 1/9 with an exon 3 deletion that did NOT have retinal capillary hemangiomas. Other VHL manifestations were discussed but not per- variant.

      CaseNotHPOs: HP:0009711 (retinal capillary hemangioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes - Supplementary Table S1

      Variant: Exon 3 deletion

      LegacyVariant: N/A

      GroupProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

      CivicName: exon 3 deletion

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 MutationType:exon_loss_variant CivicName:Exon3deletion DiseaseEntity:VHL UnregisteredVariant AminoAcidChange:N/A ClinVarID:N/A ProteinPosition:N/A cDNAposition:N/A SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/10.1111/aos.14843
  16. journals-scholarsportal-info.myaccess.library.utoronto.ca journals-scholarsportal-info.myaccess.library.utoronto.ca
    Genotype–phenotype analysis of von Hippel–Lindau syndrome in fifteen Indian families
    2
    1. ClingenBaseline 26 Oct 2026
      NS 21 35 M ? - ? ? ? - - Exon 3 del – a, distal b

      PatientID: 21

      KindredID: NS

      Case: M, 35Y0M, Indian

      DiseaseAssertion: VHL

      FamilyInfo: N/A

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

      CaseHPOFreeText: RCC, retinal angioma and CNS hemangioblastoma.

      CaseNotHPOs: HP:0001737; HP:0030393; HP:0002666 (Pancreatic cysts, Endolymphatic sac tumor, Pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Exon 3 Deletion (c.464-?_642+?del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

      CivicName: Exon 3 Deletion

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Indian DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A MutationType:exon_loss_variant UnregisteredVariant CivicName:Exon3Deletion NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 22 Oct 2026
      MM 20 35 M ? ? - - ? - - Exon 3 del – a, distal b

      PatientID: 20

      KindredID: MM

      Case: M, 35Y0M, Indian

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0001737; HP:0005584 (Pancreatic cysts, Renal cell carcinoma)

      CaseHPOFreeText: RCC and multi-cystic pancreatic lesions.

      CaseNotHPOs: HP:0010797; HP:0030393; HP:0009711; HP:0002666 (Hemangioblastoma, Endolymphatic sac tumor, Retinal capillary hemangioma, Pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Exon 3 Deletion (c.464-?_642+?del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

      CivicName: Exon 3 Deletion

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Indian DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A MutationType:exon_loss_variant UnregisteredVariant CivicName:Exon3Deletion Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    journals-scholarsportal-info.myaccess.library.utoronto.ca/pdf/13899600/v14i0004/585_gaovhsifif.xml
  17. eje.bioscientifica.com eje.bioscientifica.com
    Germline VHL gene mutations in Hungarian families with von Hippel–Lindau disease and patients with apparently sporadic unilateral pheochromocytomas
    1
    1. ClingenBaseline 25 Oct 2026
      CIP35, Bilateral33––Renal cysts and pancreatic cyst1

      PatientID: IP (Proband)

      KindredID: C

      Case: M, 35Y0M, Hungarian

      DiseaseAssertion: VHL

      FamilyInfo: Index patient presented with cerebellar hemangioblastoma, renal cysts, pancreatic cyst and bilateral renal cell carcinomas. Family members were not available for clinical and genetic screening except a brother whose screening revealed no abnormality.

      CasePresentingHPOs: HP:0006880; HP:0005562; HP:0005584; HP:0001737 (Cerebellar hemangioblastoma, Multiple renal cysts, Renal cell carcinoma, Pancreatic cysts)

      CaseHPOFreeText: Patient was operated for cerebellar hemangioblastoma at the age of 33 years. Preoperative clinical screening also showed renal cysts. Two years later, a pancreatic cyst and bilateral renal cell carcinomas were found and the patients underwent bilateral nephrectomy with subsequent chronic hemodialysis. Diagnosed with VHL Type 1.

      CaseNotHPOs: HP:0002666; HP:0009711 (Pheochromocytoma, Retinal capillary hemangioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Exon 3 Deletion (c.464-?_642+?del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Heterozygous deletion of Exon 3.

      MutationType: exon_loss_variant

      CivicName: Exon 3 Deletion

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Hungarian DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:pancreaticcysts DiseaseEntity:multiplerenalcysts DiseaseEntity:renalcellcarcinoma AgeOfPresentation:renalcellcarcinoma:35 AgeOfPresentation:cerebellarhemangioblastoma:33 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A UnregisteredVariant MutationType:exon_loss_variant CivicName:Exon3Deletion NoFamilyInfo CompoundHeterozygous inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    eje.bioscientifica.com/view/journals/eje/161/3/495.xml
  18. link.springer.com link.springer.com
    Germline mutations in the von Hippel–Lindau disease (VHL) gene in mainland Chinese families
    1
    1. ClingenBaseline 24 Oct 2026
      4 partial deletions

      27 index patients suspected of having VHL disease from unrelated Chinese families and their relatives were studied. The nucleotide were numbered according to the sequence numbering by Latif et al, 1993 and this was converted to NM_000551.3. The paper did not differentiate between a pancreatic cysts and tumor and presented these together as a 'pancreatic lesion'. The paper summarized the phenotypes of the families together. Family 23 was found with an exon 3 deletion of the VHL gene: 4/4 members had CNS hemangioblastoma and 1/4 had retinal capillary hemangioma. ACMG PVS1 PP4

      EvidenceStatement CivicName:Exon3Deletion inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    link.springer.com/article/10.1007/s00432-008-0399-x
  19. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients
    1
    1. ClingenBaseline 23 Oct 2026

      PatientID: None

      KindredID: 93

      Case: M, 31Y0M, Spanish

      DiseaseAssertion: VHL

      FamilyInfo: Positive for familial antecedents. Family history of renal cysts and clear cell renal cell carcinoma.

      CohortInfo: Probands belonging to 18 unrelated Spanish VHL families carrying germline VHL deletions.

      CasePresentingHPOs: HP:0006880 (Cerebellar hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Exon 3 Deletion (c.464-?_642+?del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Germline HSPC300 retention. Study provides evidence to show that loss of HSPC300 highly correlates with the absence of ccRCC in VHL patients.

      MutationType: exon_loss_variant

      CivicName: Exon 3 Deletion

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Spanish DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A UnregisteredVariant MutationType:exon_loss_variant CivicName:Exon3Deletion Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/17311301/
  20. cancerres.aacrjournals.org cancerres.aacrjournals.org
    Telomere Shortening Is Associated with Genetic Anticipation in Chinese Von Hippel–Lindau Disease Families
    1
    1. ClingenBaseline 23 Oct 2026
      3Deletion

      PatientID: unknown (sister)

      KindredID: 13

      Case: F, 30Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: the patient’s brother was found with hemangioblastomas, RCC, and multiple pancreatic cysts or tumors at 23Y, and retinal angiomas at 24Y. Their mother was found at 43Y with CNS hemangioblastomas, however she died before diagnosis; no DNA sample was available.

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

      CaseHPOFreeText: patient had hemangioblastomas, RCC, and multiple pancreatic cysts or tumors diagnosed at 30Y

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: exon 3 deletion

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

      CivicName: exon 3 deletion

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts AgeOfPresentation:pancreaticcysts:30 AgeOfPresentation:hemangioblastoma:30 AgeOfPresentation:renalcellcarcinoma:30 UnregisteredVariant ClinVarID:N/A MutationType:exon_loss_variant CivicName:Exon3Deletion ExperimentalAssay Familial Mutation:Germline AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    cancerres.aacrjournals.org/content/74/14/3802
  21. jmg.bmj.com jmg.bmj.com
    Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene
    2
    1. ClingenBaseline 22 Oct 2026
      24Exon 3 deletion (8.5 kb abnormal band on QSA)*

      GroupID/ KindredID: 24

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: Polish

      GroupAgeRange: N/A

      GroupInfo: Familial VHL stated; 2 family members recorded with this deletion.

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

      GroupHPOFreeText: Both (2) patients had hemangioblastomas, and RCC, and 1 had retinal capillary hemangioma

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Exon 3 deletion

      CaseProblemVariantFreeText: Patients were both found with an Exon 3 deletion (and 8.5 kb abnormal band on QSA)

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

      CivicName: Exon 3 Deletion

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma Ethnicity:Polish Mutation:Germline AssumedRefSeq:NM_000551.3 ExperimentalAssay Familial FamilyCohort CivicName:Exon3Deletion MutationType:exon_loss_variant UnregisteredVariant ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      Exon 3 deletion

      GroupID/ KindredID: 23 / S 5

      Case: Age unknown, Sex unknown, Polish

      DiseaseAssertion: VHL

      FamilyInfo: This deletion was found in Family No. 23 with 1 member affected. No other family info was given

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

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Exon 3 deletion

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

      CivicName: Exon 3 Deletion

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma DiseaseEntity:hemangioblastoma Ethnicity:Polish Mutation:Germline AssumedRefSeq:NM_000551.3 ExperimentalAssay NoFamilyInfo CivicName:Exon3Deletion UnregisteredVariant ClinVarID:N/A MutationType:exon_loss_variant inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    jmg.bmj.com/content/39/7/e38
  22. 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 21 Oct 2026

      PatientID: 431

      KindredID: 431

      Case: Sex Unknown, 15Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

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

      CaseHPOFreeText: CNS and retinal hemangioblastoma.

      CaseNotHPOs: HP:0002666; HP:0006770; HP:0001732; HP:0000107 (Pheochromocytoma, Clear cell renal cell carcinoma, Abnormality of the pancreas, Renal cyst)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished:N/A

      SupplementalData: Table S1, S2 and S3

      Variant: Exon 3 Deletion (c.464-?_642+?del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant; deletion

      CivicName: Exon 3 Deletion

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline RefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A CAID:N/A UnregisteredVariant MutationType:deletion MutationType:exon_loss_variant CivicName:Exon3Deletion Familial NoFamilyInfo SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/21463266/