20 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Frequent Mutations of VHL Gene and the Clinical Phenotypes in the Largest Chinese Cohort With Von Hippel–Lindau Disease
    4
    1. ClingenBaseline 09 Nov 2026
      In our study, group 5 represented the c.262T > C p.Trp88Arg mutation that included 21 patients from 2 families (Figure 4 and Table 3). Variability was observed in the mean age at onset for CHB and RCC, which were 41.1 ± 9.1 (range = 29–62) and 37.4 ± 12.9 (range = 23–65), respectively.

      PatientID: 2

      KindredID: 2 (group ID 5)

      Case: F, 45Y0M (deceased), Chinese

      DiseaseAssertion: assumed VHL

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

      FamilyInfo: In family 2, 4 members were described in a 3 generation family. The patient’s father, brother, and daughter were also present with the VHL mutation. See Fig 4 for family pedigree; Table 3 for details.

      CasePresentingHPOs: HP:0002894 (neoplasm of the pancreas)

      CaseHPOFreeText: She had passed away with pancreatic cancer

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W88R (c.262T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 496053 https://www.ncbi.nlm.nih.gov/clinvar/variation/496053/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: W88R (c.262T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:neoplasmofthepancreas Mutation:Germline AssumedRefSeq:NM_000551.3 ClinVarID:496053 ClinVarID:Yes CivicName:W88R(c.262T>C) cDNAposition:262 ProteinPosition:88 AminoAcidChange:TRPtoARG MutationType:missense_variant;transition Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 09 Nov 2026
      In our study, group 5 represented the c.262T > C p.Trp88Arg mutation that included 21 patients from 2 families (Figure 4 and Table 3). Variability was observed in the mean age at onset for CHB and RCC, which were 41.1 ± 9.1 (range = 29–62) and 37.4 ± 12.9 (range = 23–65), respectively.

      PatientID: 3

      KindredID: 1 (group ID 5)

      Case: M, 63Y0M (deceased), Chinese

      DiseaseAssertion: assumed VHL

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

      FamilyInfo: In family 1, 17 members were described. The first generation describes 5 members with the VHL mutation, each passing on the gene to further generations. Patient 3’s two sons were passed this familial mutation. See Fig 4 for family pedigree; Table 3 for details.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: He had CNS hemangioblastomas at 62Y

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W88R (c.262T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 496053 https://www.ncbi.nlm.nih.gov/clinvar/variation/496053/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: W88R (c.262T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:hemangioblastoma AgeOfPresentation:hemangioblastoma:62 Mutation:Germline AssumedRefSeq:NM_000551.3 ClinVarID:496053 ClinVarID:Yes ProteinPosition:88 CivicName:W88R(c.262T>C) cDNAposition:262 AminoAcidChange:TRPtoARG MutationType:missense_variant;transition Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    3. ClingenBaseline 08 Nov 2026
      In our study, group 5 represented the c.262T > C p.Trp88Arg mutation that included 21 patients from 2 families (Figure 4 and Table 3). Variability was observed in the mean age at onset for CHB and RCC, which were 41.1 ± 9.1 (range = 29–62) and 37.4 ± 12.9 (range = 23–65), respectively.

      PatientID: 9

      KindredID: 1 (group ID 5)

      Case: M, 51Y0M, Chinese

      DiseaseAssertion: assumed VHL

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

      FamilyInfo: In family 1, 17 members were described. The first generation describes 5 members with the VHL mutation, each passing on the gene to further generations. Patient 9’s father and brother had this familial mutation. His one daughter had not been yet tested at the time of the study. See Fig 4 for family pedigree; Table 3 for details.

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

      CaseHPOFreeText: He had CNS hemangioblastomas at 35Y and RCC at 42Y

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W88R (c.262T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 496053 https://www.ncbi.nlm.nih.gov/clinvar/variation/496053/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: W88R (c.262T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma AgeOfPresentation:hemangioblastoma:35 AgeOfPresentation:renalcellcarcinoma:42 Mutation:Germline AssumedRefSeq:NM_000551.3 ClinVarID:496053 ClinVarID:Yes Familial FamilyPedigree CivicName:W88R(c.262T>C) cDNAposition:262 ProteinPosition:88 MutationType:missense_variant;transition AminoAcidChange:TRPtoARG inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    4. ClingenBaseline 03 Nov 2026
      In our study, group 5 represented the c.262T > C p.Trp88Arg mutation that included 21 patients from 2 families (Figure 4 and Table 3). Variability was observed in the mean age at onset for CHB and RCC, which were 41.1 ± 9.1 (range = 29–62) and 37.4 ± 12.9 (range = 23–65), respectively.

      PatientID: 1

      KindredID: 1 (group ID 5)

      Case: M, 68Y0M (deceased), Chinese

      DiseaseAssertion: assumed VHL

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

      FamilyInfo: In family 1, 17 members were described. The first generation describes 5 members with the VHL mutation, each passing on the gene to further generations. Patient 1 had a daughter, and 3 grandkids with this mutation. See Fig 4 for family pedigree; Table 3 for details.

      CasePresentingHPOs: HP:0005584 (renal cell carcinoma)

      CaseHPOFreeText: He had an age of onset for RCC at 65Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W88R (c.262T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 496053 https://www.ncbi.nlm.nih.gov/clinvar/variation/496053/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: W88R (c.262T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese AssumedRefSeq:NM_000551.3 Mutation:Germline ClinVarID:496053 ClinVarID:Yes DiseaseEntity:renalcellcarcinoma AgeOfPresentation:renalcellcarcinoma:65 Familial FamilyPedigree CivicName:W88R(c.262T>C) cDNAposition:262 ProteinPosition:88 AminoAcidChange:TRPtoARG MutationType:missense_variant;transition inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/31620170/
  3. academic-oup-com.proxy1.lib.uwo.ca academic-oup-com.proxy1.lib.uwo.ca
    Hemangioblastomas and Neurogenic Polyglobulia
    1
    1. ClingenBaseline 08 Nov 2026

      PatientID: 22

      KindredID: 22

      Case: F, 43Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006880; HP:0005584 (Cerebellar hemangioblastoma, Renal cell carcinoma)

      CaseHPOFreeText: Cerebellum hemangioblastoma and RCC.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W88R (c.262T>A)

      LegacyVariant: c.475T>A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 456577, https://www.ncbi.nlm.nih.gov/clinvar/variation/456577/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Preoperative hemoglobin: 15.2. No postoperative follow-up.

      MutationType: missense_variant;transversion

      CivicName: W88R (c.262T>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:renalcellcarcinoma AgeOfPresentation:cerebellarhemangioblastoma:43 Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:262 ProteinPosition:88 AminoAcidChange:TRPtoARG ClinVarID:456577 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:W88R(c.262T>A) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    academic-oup-com.proxy1.lib.uwo.ca/neurosurgery/article/72/6/930/2417731
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease
    2
    1. ClingenBaseline 07 Nov 2026
      Affected members of the third family with a VHL type 1 disease carried a c.475T>C/p.Trp88Arg exchange.

      PatientID: CII2

      KindredID: C

      Case: M, 63Y0M, Serbian

      DiseaseAssertion: VHL

      FamilyInfo: Families were selected based on their clinical data and family history. Patient’s son (CIII1) retinal capillary hemangioma, CNS hemangioblastoma and renal cell carcinoma, but was not genetically tested. The patient’s brother also had retinal capillary hemangioma, CNS hemangioblastoma and renal cell carcinoma, but was not genetically tested. Patient’s grandson (CIV2) was diagnosed with retinal hemangioblastoma at 12Y0M. Then, multiple pancreatic and kidney cysts were detected at 29Y0M and left kidney cancer was found at age 35Y0M. He possessed the same mutation as the patient. The grandson’s children aged 12Y0M (CV2) and 15Y0M (CV1) are carriers of the same genetic mutation, but are both currently asymptomatic. See pedigree in figure 1.

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

      CaseHPOFreeText: The patient had the first symptoms of retinal hemangioblastoma at 60Y0M and deceased due to renal cell carcinoma in both kidneys at 63Y0M.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W88R (c.262T>A)

      LegacyVariant: p.W88R (c.475T>A)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 456577, https://www.ncbi.nlm.nih.gov/clinvar/variation/456577/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense variant; transversion

      CivicName: W88R (c.262T>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transversion DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma AgeOfPresentation:retinalcapillaryhemangioma:60 CivicName:W88R(c.262T>A) cDNAPosition:262 ProteinPosition:88 AminoAcidChange:TRPtoARG ClinVarID:Yes ClinVarID:456577 FamilyPedigree Familial AssumedRefSeq:AF010238.1 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 07 Nov 2026
      third family with a VHL type 1 disease carried a c.475T>C/p.Trp88Arg exchange

      PatientID: CV1

      KindredID: C

      Case: M, 15Y0M, Serbian

      DiseaseAssertion: Asymptomatic

      FamilyInfo: Families were selected based on their clinical data and family history. Patient and his brother (CV2) are both currently asymptomatic, but possess the same variant as their father (CIV2), who was diagnosed with retinal hemangioblastoma at 12Y0M. Then, multiple pancreatic and kidney cysts were detected at 29Y0M and left kidney cancer was found at age 35Y0M. Patient’s grandfather, great grandfather and great uncle (CIII1; CII1, CII2) had retinal capillary hemangioma, CNS hemangioblastoma and renal cell carcinoma. Out of the three of them, only the great grandfather had genetic testing performed and was found to have the same mutation as the patient. See pedigree in figure 1.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W88R (c.262T>A)

      LegacyVariant: p.W88R (c.475T>A)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 456577, https://www.ncbi.nlm.nih.gov/clinvar/variation/456577/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense variant; transversion

      CivicName: W88R (c.262T>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transversion DiseaseEntity:asymptomatic CivicName:W88R(c.262T>A) cDNAPosition:262 ProteinPosition:88 AminoAcidChange:TRPtoARG ClinVarID:Yes ClinVarID:456577 FamilyPedigree Familial AssumedRefSeq:AF010238.1 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/17688370/
  5. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan
    1
    1. ClingenBaseline 06 Nov 2026
      Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected.

      GroupID/ KindredID: 1255NCI

      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 1255NCI. 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.W88R (c.262T>A)

      LegacyVariant: p.W88R (c.475T>A)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 456577 https://www.ncbi.nlm.nih.gov/clinvar/variation/456577/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: W88R (c.262T>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:renalcellcarcinoma AminoAcidChange:TRPtoARG CivicName:W88R(c.262T>A) cDNAposition:262 ProteinPosition:88 MutationType:missense_variant;transversion Familial ClinVarID:456577 ClinVarID:Yes FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/8956040/
  6. www.sciencedirect.com www.sciencedirect.com
    Epididymal cystadenomas in von Hippel-Lindau disease
    1
    1. ClingenBaseline 06 Nov 2026

      GroupID: 5

      Case: M, Age unknown, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0009715 (Papillary cystadenoma of the epididymis)

      CaseHPOFreeText: Other manifestations may be present although not matched with individuals so could not deduce.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W88R (c.262T>A)

      LegacyVariant: p.W88R (c.475T>A)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 456577 https://www.ncbi.nlm.nih.gov/clinvar/variation/456577/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: W88R (c.262T>A)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:papillarycystadenomaoftheepididymis InheritancePattern:AutosomalDominant AssumedRefSeq:AF010238.1 Mutation:Germline cDNAposition:262 ProteinPosition:88 AminoAcidChange:TRPtoARG ClinVarID:Yes MutationType:missense_variant;transversion CivicName:W88R(c.262T>A) ClinVarID:456577 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    sciencedirect.com/science/article/pii/S0090429597000745
  7. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype-phenotype correlation in von Hippel-Lindau disease
    1
    1. ClingenBaseline 04 Nov 2026
      1 (100)

      GroupID: 25

      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: HP:0009711 (retinal capillary hemangioma)

      CaseHPOFreeText: This individual patient was the only one discussed with this mutation. They had retinal hemangiomas; Other VHL manifestations were discussed but not per- variant.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes - Supplementary Table S1

      Variant: p.W88R (c.262T>A)

      LegacyVariant: N/A

      GroupProblemVariantFreeText: N/A

      ClinVarID: 456577 https://www.ncbi.nlm.nih.gov/clinvar/variation/456577/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: W88R (c.262T>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:262 ProteinPosition:88 AminoAcidChange:TRPtoARG CivicName:W88R(c.262T>A) MutationType:missense_variant;transversion ClinVarID:456577 ClinVarID:Yes SupplementalData DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:VHL NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1111/aos.14843
  8. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype–phenotype correlations in von Hippel-Lindau disease
    1
    1. ClingenBaseline 04 Nov 2026

      GroupID: 61

      Case: Age Unknown, 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 (c.262T>A) was found in 1 VHL family with a single patient.

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

      CaseHPOFreeText: patient had retinal angioma diagnosed at 23Y, cerebellar hemangioblastoma diagnosed at 54Y, and RCC at 54Y.

      CaseNotHPOs: HP:0002666 (pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S1.

      Variant: p.W88R (c.262T>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 456577 https://www.ncbi.nlm.nih.gov/clinvar/variation/456577/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: W88R (c.262T>A)

      MultipleGeneVariants: N/A

      AgeOfPresentation:renalcellcarcinoma:54 AgeOfPresentation:cerebellarhemangioblastoma:54 AgeOfPresentation:retinalcapillaryhemangioma:23 DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:renalcellcarcinoma CivicName:W88R(c.262T>A) cDNAposition:262 AminoAcidChange:TRPtoARG ProteinPosition:88 MutationType:missense_variant;transversion ExperimentalAssay Mutation:Germline InheritancePattern:AutosomalDominant ClinVarID:Yes ClinVarID:456577 NoFamilyInfo SupplementalData RefSeq:NM_000551.2 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.20385
  9. www.e-enm.org www.e-enm.org
    Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population
    1
    1. ClingenBaseline 04 Nov 2026
      8 F/49 PCC VHL 1 c.262T>C (p.Trp88Arg) Pre-NGS Sanger Bilateral adrenal Metastatic No RCC, hemangioblastoma of cerebellum Incidental Silent

      PatientID: 8

      KindredID: 8

      Case: F, 49Y0M, Korean

      DiseaseAssertion: Assumed VHL

      FamilyInfo: No information provided.

      CasePresentingHPOs: HP:0006748; HP:0005584; HP:0006880 (adrenal pheochromocytoma, renal cell carcinoma, cerebellar hemangioblastoma)

      CaseHPOFreeText: The patient presented with adrenal pheochromocytoma. She also had other tumours, including renal cell carcinoma and cerebellar hemangioblastoma (see table 3).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, NF1, MAX, SDHA/SDHAF2/SDHB/SDHC/SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W88R (c.262T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 496053, https://www.ncbi.nlm.nih.gov/clinvar/variation/496053/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: W88R (c.262T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:NM_000551.3 Ethnicity:Korean NoFamilyInfo PreviousTesting:RET/NF1/MAX/SDHA/SDHAF2/SDHB/SDHC/SDHD ClinVarID:Yes ClinVarID:496053 DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:renalcellcarcinoma AgeOfPresentation:adrenalpheochromocytoma:49 CivicName:W88R(c.262T>C) cDNAPosition:262 ProteinPosition:88 AminoAcidChange:TRPtoARG inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    e-enm.org/journal/view.php
  10. Nov 2026
  11. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease
    1
    1. ClingenBaseline 02 Nov 2026
      third family with a VHL type 1 disease carried a c.475T>C/p.Trp88Arg exchange.

      PatientID: CV2

      KindredID: C

      Case: M, 12Y0M, Serbian

      DiseaseAssertion: Asymptomatic

      FamilyInfo: Families were selected based on their clinical data and family history. Patient and his sister (CV1) are both currently asymptomatic, but possess the same variant as their father (CIV2), who was diagnosed with retinal hemangioblastoma at 12Y0M. Then, multiple pancreatic and kidney cysts were detected at 29Y0M and left kidney cancer was found at age 35Y0M. Patient’s grandfather, great grandfather and great uncle (CIII1; CII1, CII2) had retinal capillary hemangioma, CNS hemangioblastoma and renal cell carcinoma. Out of the three of them, only the great grandfather had genetic testing performed and was found to have the same mutation as the patient. See pedigree in figure 1.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W88R (c.262T>A)

      LegacyVariant: p.W88R (c.475T>A)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 456577, https://www.ncbi.nlm.nih.gov/clinvar/variation/456577/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense variant; transversion

      CivicName: W88R (c.262T>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transversion DiseaseEntity:asymptomatic CivicName:W88R(c.262T>A) cDNAPosition:262 ProteinPosition:88 AminoAcidChange:TRPtoARG ClinVarID:Yes ClinVarID:456577 FamilyPedigree Familial AssumedRefSeq:AF010238.1 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/17688370/
  12. Oct 2026
  13. jnnp.bmj.com jnnp.bmj.com
    Reconsideration of biallelic inactivation of theVHL tumour suppressor gene in hemangioblastomas of the central nervous system
    1
    1. ClingenBaseline 30 Oct 2026
      18aCerebellum475 T/AW88RMissenseLOHNegative 18bSpine T7/8475 T/AW88RMissenseLOHNegative

      PatientID: 18 (tumour samples 18a, 18b)

      KindredID: 14

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: A total of 42 CNS haemangioblastoma samples were obtained from 31 patients, who were consecutively treated between 1993 and 1997 at the Department of Neurosurgery of the Freiburg University Medical Centre.

      CasePresentingHPOs: HP:0006880; HP:0009713 (cerebellar hemangioblastoma, spinal hemangioblastoma)

      CaseHPOFreeText: Patient presented with 2 VHL-related tumors, one in the spinal chord region T7/8, and one in the cerebellum (a,b). Tumors a and b presented with LOH positive somatic information but negative methylation.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W88R (c.262T>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.W88R (c.475T>A)

      ClinVarID: 456577 https://www.ncbi.nlm.nih.gov/clinvar/variation/456577/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: W88R (c.262T>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:AF010238.1 DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:VHL CivicName:W88R(c.262T>A) cDNAposition:262 ProteinPosition:88 AminoAcidChange:TRPtoARG MutationType:missense_variant;transversion ClinVarID:456577 ClinVarID:Yes NoFamilyInfo DiseaseEntity:spinalhemangioblastoma inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    jnnp.bmj.com/content/70/5/644
  14. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Frequent Mutations of VHL Gene and the Clinical Phenotypes in the Largest Chinese Cohort With Von Hippel–Lindau Disease
    5
    1. ClingenBaseline 30 Oct 2026
      In our study, group 5 represented the c.262T > C p.Trp88Arg mutation that included 21 patients from 2 families (Figure 4 and Table 3). Variability was observed in the mean age at onset for CHB and RCC, which were 41.1 ± 9.1 (range = 29–62) and 37.4 ± 12.9 (range = 23–65), respectively.

      PatientID: 15

      KindredID: 1 (group ID 5)

      Case: F, 32Y0M, Chinese

      DiseaseAssertion: assumed VHL

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

      FamilyInfo: In family 1, 17 members were described. The first generation describes 5 members with the VHL mutation, each passing on the gene to further generations. Patient 15’s mother and grandfather had this familial mutation, as well as her sister and brother. Her son tested negative. See Fig 4 for family pedigree; Table 3 for details.

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

      CaseHPOFreeText: She had RCC and pancreatic cysts at 30Y

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W88R (c.262T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 496053 https://www.ncbi.nlm.nih.gov/clinvar/variation/496053/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: W88R (c.262T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts AgeOfPresentation:pancreaticcysts:30 AgeOfPresentation:renalcellcarcinoma:30 CivicName:W88R(c.262T>C) cDNAposition:262 ProteinPosition:88 AminoAcidChange:TRPtoARG MutationType:missense_variant;transition Familial FamilyPedigree ClinVarID:496053 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 25 Oct 2026
      In our study, group 5 represented the c.262T > C p.Trp88Arg mutation that included 21 patients from 2 families (Figure 4 and Table 3). Variability was observed in the mean age at onset for CHB and RCC, which were 41.1 ± 9.1 (range = 29–62) and 37.4 ± 12.9 (range = 23–65), respectively.

      PatientID: 4

      KindredID: 2 (group ID 5)

      Case: F, 31Y0M, Chinese

      DiseaseAssertion: asymptomatic

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

      FamilyInfo: In family 2, 4 members were described in a 3 generation family. The proband’s mother, uncle, and grandfather were also present with the VHL mutation. See Fig 4 for family pedigree; Table 3 for details.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: No characteristics were described

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W88R (c.262T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 496053 https://www.ncbi.nlm.nih.gov/clinvar/variation/496053/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: W88R (c.262T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:asymptomatic ClinVarID:496053 ClinVarID:Yes cDNAposition:262 ProteinPosition:88 AminoAcidChange:TRPtoARG MutationType:missense_variant;transition CivicName:W88R(c.262T>C) Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    3. ClingenBaseline 24 Oct 2026
      In our study, group 5 represented the c.262T > C p.Trp88Arg mutation that included 21 patients from 2 families (Figure 4 and Table 3). Variability was observed in the mean age at onset for CHB and RCC, which were 41.1 ± 9.1 (range = 29–62) and 37.4 ± 12.9 (range = 23–65), respectively.

      PatientID: 12

      KindredID: 1 (group ID 5)

      Case: M, 40Y0M (deceased), Chinese

      DiseaseAssertion: assumed VHL

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

      FamilyInfo: In family 1, 17 members were described. The first generation describes 5 members with the VHL mutation, each passing on the gene to further generations. Patient 12’s mother and brother had this familial mutation. His two daughters had not been yet tested at the time of the study. See Fig 4 for family pedigree; Table 3 for details.

      CasePresentingHPOs: HP:0005584 (renal cell carcinoma)

      CaseHPOFreeText: He had RCC at 40Y

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W88R (c.262T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 496053 https://www.ncbi.nlm.nih.gov/clinvar/variation/496053/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: W88R (c.262T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:renalcellcarcinoma AgeOfPresentation:renalcellcarcinoma:40 Mutation:Germline AssumedRefSeq:NM_000551.3 ClinVarID:496053 ClinVarID:Yes CivicName:W88R(c.262T>C) cDNAposition:262 ProteinPosition:88 AminoAcidChange:TRPtoARG MutationType:missense_variant;transition Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    4. ClingenBaseline 23 Oct 2026
      In our study, group 5 represented the c.262T > C p.Trp88Arg mutation that included 21 patients from 2 families (Figure 4 and Table 3). Variability was observed in the mean age at onset for CHB and RCC, which were 41.1 ± 9.1 (range = 29–62) and 37.4 ± 12.9 (range = 23–65), respectively.

      PatientID: 3

      KindredID: 2 (group ID 5)

      Case: M, 52Y0M, Chinese

      DiseaseAssertion: assumed VHL

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

      FamilyInfo: In family 2, 4 members were described in a 3 generation family. The patient’s father, sister, and niece were also present with the VHL mutation. See Fig 4 for family pedigree; Table 3 for details.

      CasePresentingHPOs: HP:0010797; HP:0002666 (hemangioblastoma, pheochromocytoma)

      CaseHPOFreeText: CNS hemangioblastoma and pheochromocytoma both presented at age of onset of 50Y

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W88R (c.262T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 496053 https://www.ncbi.nlm.nih.gov/clinvar/variation/496053/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: W88R (c.262T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:hemangioblastoma DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:50 AgeOfPresentation:hemangioblastoma:50 Mutation:Germline ClinVarID:496053 ClinVarID:Yes AssumedRefSeq:NM_000551.3 cDNAposition:262 AminoAcidChange:TRPtoARG ProteinPosition:88 MutationType:missense_variant;transition Familial FamilyPedigree CivicName:W88R(c.262T>C) inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    5. ClingenBaseline 23 Oct 2026
      In our study, group 5 represented the c.262T > C p.Trp88Arg mutation that included 21 patients from 2 families (Figure 4 and Table 3). Variability was observed in the mean age at onset for CHB and RCC, which were 41.1 ± 9.1 (range = 29–62) and 37.4 ± 12.9 (range = 23–65), respectively.

      PatientID: 8

      KindredID: 1 (group ID 5)

      Case: M, 48Y0M, Chinese

      DiseaseAssertion: assumed VHL

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

      FamilyInfo: In family 1, 17 members were described. The first generation describes 5 members with the VHL mutation, each passing on the gene to further generations. Patient 8’s father and sister had this familial mutation. His one son had not been yet tested at the time of the study. See Fig 4 for family pedigree; Table 3 for details.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: He had CNS hemangioblastomas at 40Y

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W88R (c.262T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 496053 https://www.ncbi.nlm.nih.gov/clinvar/variation/496053/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: W88R (c.262T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:hemangioblastoma AgeOfPresentation:hemangioblastoma:40 Mutation:Germline AssumedRefSeq:NM_000551.3 ClinVarID:496053 ClinVarID:Yes AminoAcidChange:TRPtoARG ProteinPosition:88 cDNAposition:262 MutationType:missense_variant;transition Familial FamilyPedigree CivicName:W88R(c.262T>C) inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/31620170/
  15. May 2015
  16. shakespeare.mit.edu shakespeare.mit.edu
    Macbeth: Entire Play
    1
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    shakespeare.mit.edu/macbeth/full.html