67 Matching Annotations
  1. Last 7 days
  2. iovs.arvojournals.org iovs.arvojournals.org
    Retinal Hemangioblastoma in von Hippel-Lindau Disease: A Clinical and Molecular Study
    1
    1. ClingenBaseline 13 Nov 2026
      256C→T Ts Exon 1 86 CCC P P86S

      GroupID: 14

      DiseaseAssertion: VHL

      GroupSize: 3

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: French

      GroupAgeRange: N/A

      GroupInfo: 3 patients are listed with this mutation; any relation is unknown.

      GroupPresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      GroupHPOFreeText: 1 member is said to have retinal HBs. Other manifestations are not clearly stated.

      GroupNotHPOs: HP:0009711 (retinal capillary hemangioma)

      GroupNotHPOFreeText: the other 2 members are specifically said to not have retinal HBs

      GroupPreviousTesting: N/A

      PreviouslyPublished: Possibly published in PMID:15300849

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N.A

      LegacyVariant: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: P86S (c.256C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline AssumedRefSeq:NM_000551.3 Ethnicity:French NoFamilyInfo ClinVarID:178692 ClinVarID:Yes CivicName:P86S(c.256C>T) cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoSER MutationType:missense_variant;transition inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    iovs.arvojournals.org/article.aspx
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Central Nervous System Hemangioblastoma in a Pediatric Patient Associated With Von Hippel-Lindau Disease: A Case Report and Literature Review
    1
    1. ClingenBaseline 13 Nov 2026
      Case ReportA previously healthy 12-year-old boy was admitted to the hospital with vision loss, headache and dizziness over 1 month, which was aggravated in the last 5 days. Magnetic resonance imaging (MRI) of the head revealed a large (19.8 mm*18.5 mm*23.5 mm) irregular mass located in the suprasellar region abutting the left aspect of the optic chiasm. It appeared isointense on T1-weighted imaging (T1WI) and homogenously hyperintense on T2-weighted imaging (T2WI). After gadolinium administration, a well-circumscribed enhancing lesion was observed ( Figures 1A–E ). A small cerebellar lesion was also confirmed.Open in a separate windowFigure 1Brain MRI at admission (A–E). (A, B) Axial view (weighted sequence in T1, T2). (C–E) Sagittal, coronal, axial view after contrast injection, with the tumor marked. (F, G) Brain MRI after surgery. (H) Pancreatic cysts.The mother of the patient underwent surgery for HGB in the CNS (spine, cerebellum) and had pheochromocytomas and pancreatic cysts. On the basis of the mother’s medical history, clinical manifestations and imaging examinations, she was diagnosed with VHL disease, although she refused genetic sequencing. Therefore, the patient was examined for VHL disease before surgery. Sequencing of exon 1 of the VHL gene revealed a c.257C>T mutation (amino acid p.P86L). Ophthalmological examination revealed that the boundary of the optic disc in the left eye was pale and that there were no abnormalities in the right eye. Abdominal computed tomography (CT) was also performed to identify associated lesions and pancreatic cysts ( Figure 1H ). Based on these findings, the patient was definitely diagnosed with VHL syndrome.He underwent surgery to remove the tumor from the suprasellar region at our neurosurgical department, and histology confirmed the diagnosis of HGB ( Figures 2 and 3 ). The cerebellar lesion was not in the same surgical field as the suprasellar tumor and had no obvious mass effect, so they were not treated at the same time. Immunohistochemical analysis indicated that the Ki-67 index was approximately 2%. Furthermore, the neoplasm was positive for EGFR, NSE, CD34 and vimentin and negative for CK-pan, Pax-8, CD10, CD56, S-100, glial fibrillary acidic protein, inhibin, SSTR2, and epithelial membrane antigen ( Figure 2 ).Open in a separate windowFigure 2Representative postoperative pathological images. (A) Histologic examination of optic nerve HGB. (B–F) Immunohistochemical staining. (B) The proliferative fraction of tumor cells (Ki-67) was low, at approximately 2%. (C) CD-34 showed abundant blood vessels. Tumor cells showed positivity for EGFR (D), NSE (E) and vimentin (F).Open in a separate windowFigure 3Surgical pictures. Severe adhesion of the tumor and left optic nerve.The patient was transferred to the neurosurgery intensive care unit for postoperative monitoring and was ambulatory on postoperative day 1. Postoperative MRI ( Figures 1F, G ) demonstrated that the lesion in the suprasellar region was completely removed. He was discharged on postoperative day 7, and regular follow-up was performed. Unfortunately, the patient lost vision completely in the left eye after surgery.Go to:DiscussionHere, we reported a pediatric case of VHL disease presenting with HGBs in the optic nerve and cerebellum and pancreatic cysts. The diagnosis of VHL disease was confirmed by the identification of a familial germline mutation located in the first exon of the VHL gene (c.257C>T, p.P86L), which has been reported in the Human Gene Mutation Database and VHLdb databases (14, 15). To date, only 7 pediatric cases of sellar or suprasellar HGB (including optic nerve HGBs) have been reported ( Table 1 ). Regarding suprasellar HGBs, the pituitary stalk may be the site of origin in the vast majority of cases and, rarely, the intracranial portion of the optic nerve. In our case, we confirmed during surgery that the tumor was mainly located inside the optic nerve without a discernible tumor capsule and without the involvement of the leptomeninges. Given the rarity of suprasellar VHL-associated HGBs in childhood, we review the genotype-phenotype association of VHL disease, treatment, natural history and follow-up.

      PatientID: Case

      KindredID: 1

      Case: M, 12Y0M, Chinese (East Asian)

      DiseaseAssertion: VHL

      FamilyInfo: The mother of the patient underwent surgery for her hemangioblastoma in the CNS (spine, cerebellum) and had pheochromocytomas and pancreatic cysts. She was diagnosed with VHL disease, although she refused genetic sequencing.

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

      CaseHPOFreeText: Ophthalmological examination revealed that the boundary of the optic disc in the left eye was pale (hemangioblastoma) and that there were no abnormalities in the right eye. Unfortunately, the patient lost vision completely in the left eye after surgery. Abdominal CT was also performed to identify associated lesions and pancreatic cysts.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86L (c.257C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Ethnicity:EastAsian DiseaseEntity:VHL Mutation:Germline DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pancreaticcysts AssumedRefSeq:NM_000551.3 ProteinPosition:86 cDNAposition:257 CivicName:P86L(c.257C>T) AminoAcidChange:PROtoLEU MutationType:missense_variant;transition ClinVarID:182977 ClinVarID:Yes Familial AgeOfPresentation:retinalcapillaryhemangioma:12 AgeOfPresentation:cerebellarhemangioblastoma:12 AgeOfPresentation:pancreaticcysts:12 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC8180858/
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype-phenotype correlations in Chinese von Hippel–Lindau disease patients
    3
    1. ClingenBaseline 12 Nov 2026

      PatientID: 57

      KindredID: 20

      Case: F, 18Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The patient had a CNS hemangioblastoma at age 18. Their father (listed in this paper as the proband) presented with a retinal angioma at 32, a CNS hemangioblastoma at 34, and renal cell carcinoma as well as multiple pancreatic cysts/tumors at 38. Their father passed away before genetic testing could be confirmed.

      CasePresentingHPOs: HP:0010797 (CNS Hemangioblastoma)

      CaseHPOFreeText: The proband had a CNS hemangioblastoma at age 18.

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

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

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

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86L (c.257C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline DiseaseEntity:hemangioblastoma AgeOfPresentation:hemangioblastoma:18 AssumedRefSeq:NM_000551.3 cDNAposition:257 ProteinPosition:86 AminoAcidChange:PROtoLEU ClinVarID:182977 MutationType:missense_variant;transition CivicName:P86L(c.257C>T) Familial SupplementalData ClinVarID:Yes PreviouslyPublished:29330336 DiseaseEntity:VHL inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 09 Nov 2026

      PatientID: 54

      KindredID: 19

      Case: F, 33Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The proband (patient 54) has a daughter who was genetically confirmed with the same mutation. The daughter was asymptomatic at the time of analysis.

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

      CaseHPOFreeText: The proband presented with a retinal angioma at 12, renal cell carcinoma and multiple pancreatic cysts/tumors at 33.

      CaseNotHPOs: HP:0010797; HP:0002666 (Hemangioblastoma, Pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

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

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

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86S (c.256C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pancreaticcysts DiseaseEntity:abnormalityofthepancreas DiseaseEntity:renalcellcarcinoma AgeOfPresentation:pancreaticcysts:33 AgeOfPresentation:abnormalityofthepancreas:33 AgeOfPresentation:retinalcapillaryhemangioma:12 AgeOfPresentation:renalcellcarcinoma:33 cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoSER MutationType:missense_variant;transition CivicName:P86S(c.256C>T) ClinVarID:178692 ClinVarID:Yes SupplementalData Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    3. ClingenBaseline 07 Nov 2026

      PatientID: 53

      KindredID: 18

      Case: F, 11Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The proband (patient 51) has a father (patient 52) who passed away before he could be diagnosed/ genetically confirmed with this mutation. The father had renal cell carcinoma at 52. The proband's daughter (patient 53) was confirmed with the mutation and had retinal angioma at 11.

      CasePresentingHPOs: HP:0009711 (Retinal capillary hemangioma)

      CaseHPOFreeText: The proband presented with a CNS hemangioblastoma at 31, and renal cell carcinoma and multiple pancreatic cysts/tumors at 32.

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

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

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

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86S (c.256C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:retinalcapillaryhemangioma:11 cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoSER MutationType:missense_variant;transition CivicName:P86S(c.256C>T) ClinVarID:178692 ClinVarID:Yes SupplementalData Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5503545/
  5. www.sciencedirect.com www.sciencedirect.com
    Sequence Variations in the von Hippel–Lindau Tumor Suppressor Gene in Patients with Intracranial Aneurysms
    1
    1. ClingenBaseline 11 Nov 2026
      Sharma and Jha20 reported a 17-year-old girl who suffered SAH of a right posterior communicating artery aneurysm. After she developed hemangioblastomas, gene sequencing revealed the mutation c.256C > T in the VHL gene (exon 1). This mutation led to a proline to serine substitution at amino acid position 86.

      PatientID: None

      KindredID: None

      Case: F, 17Y0M, Ethnicity unknown

      DiseaseAssertion: dilatation of the cerebral artery

      FamilyInfo: None

      CasePresentingHPOs: HP:0004944; HP:0010797 (dilatation of the cerebral artery, hemangioblastoma)

      CaseHPOFreeText: Patient had an intracranial aneurysm - SAH of a right posterior communicating artery aneurysm. She later developed hemangioblastomas

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 16506495

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: N/A

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant NoFamilyInfo DiseaseEntity:VHL DiseaseEntity:dilatationofthecerebralartery DiseaseEntity:hemangioblastoma ClinVarID:178692 ClinVarID:Yes ProteinPosition:86 CivicName:P86S(c.256C>T) cDNAposition:256 AminoAcidChange:PROtoSER MutationType:missense_variant;transition inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    sciencedirect.com/science/article/pii/S1052305713000220
  6. link.springer.com link.springer.com
    Germline mutations in the von Hippel–Lindau disease (VHL) gene in mainland Chinese families
    2
    1. ClingenBaseline 11 Nov 2026
      In family 9 in our series, we identified a VHL germline mutation(470 C>T, Pro86Leu) in a 53 years old woman (proband 9) with asynchronous bilateral renal clear cell carcinomas, multiple renal cysts and pancreatic cysts and with no positive family history, in her younger brother with a single phenotype (pancreatic cysts),and in her niece with no detectable VHL lesions. It is of interest that we find the same mutation in another unrelated VHL family (family 10) in which affected patients have severe phenotypes including multiple CNS haemangioblastoma, retinal angiomas, bilateral RCCs and pancreatic cysts. Compared with the family 10, it is very likely that the affected members in the family 9 will develop CNS haemangioblastoma and retinal angiomas in the future.

      PatientID: III-4

      KindredID: 9

      Case: F, Age Unknown, Chinese

      DiseaseAssertion: asymptomatic

      FamilyInfo: Father was found with multiple pancreatic cysts, aunt with RCC and renal cysts; both with the same mutation as her. [see Fig. 2].

      CasePresentingHPOs: None

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

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

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: P86L (c.257C>T)

      MultipleGeneVariants: N/A

      Mutation:Germline DiseaseEntity:asymptomatic RefSeq:AF010238.1 ProteinPosition:86 CivicName:P86L(c.257C>T) cDNAposition:257 AminoAcidChange:PROtoLEU MutationType:missense_variant;transition ClinVarID:182977 ClinVarID:Yes FamilyPedigree Ethnicity:Chinese Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 10 Nov 2026
      In family 9 in our series, we identified a VHL germline mutation(470 C>T, Pro86Leu) in a 53 years old woman (proband 9) with asynchronous bilateral renal clear cell carcinomas, multiple renal cysts and pancreatic cysts and with no positive family history, in her younger brother with a single phenotype (pancreatic cysts),and in her niece with no detectable VHL lesions. It is of interest that we find the same mutation in another unrelated VHL family (family 10) in which affected patients have severe phenotypes including multiple CNS haemangioblastoma, retinal angiomas, bilateral RCCs and pancreatic cysts. Compared with the family 10, it is very likely that the affected members in the family 9 will develop CNS haemangioblastoma and retinal angiomas in the future.

      PatientID: II-3

      KindredID: 9

      Case: M, Age Unknown, Chinese

      DiseaseAssertion: assumed VHL

      FamilyInfo: Older sister was examined to have asynchronous bilateral renal clear cell carcinomas, multiple renal cysts and pancreatic cysts. III-1, III-2, IV-1, IV-2, IV-3 all tested for the VHL gene but found to be normal. daughter was detected with the same mutation but with no detectable VHL lesions. [see Fig. 2].

      CasePresentingHPOs: HP:0001737 (pancreatic cysts)

      CaseHPOFreeText: patient had a single phenotype of Pancreatic cysts

      CaseNotHPOs: HP:0002666; HP:0010797; HP:0009711; HP:0006770 (pheochromocytoma, hemangioblastoma, retinal capillary hemangioma, renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

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

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: P86L (c.257C>T)

      MultipleGeneVariants: N/A

      Mutation:Germline DiseaseEntity:VHL DiseaseEntity:renalcyst RefSeq:AF010238.1 CivicName:P86L(c.257C>T) cDNAposition:257 ProteinPosition:86 AminoAcidChange:PROtoLEU ClinVarID:182977 MutationType:missense_variant;transition FamilyPedigree Ethnicity:Chinese ClinVarID:Yes Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s00432-008-0399-x
  7. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Germline mutations in the von Hippel–Lindau disease tumor suppressor gene: Correlations with phenotype
    1
    1. ClingenBaseline 11 Nov 2026

      PatientID: None

      KindredID: 4416

      Case: Sex, Age, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: Familial VHL stated; although only 1 family member recorded.

      CasePresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      CaseHPOFreeText: N/A

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 8956040; 27034144; 20375333

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.P157A (c.469C>G)

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: P86A (c.256C>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline RefSeq:AF010238.1 ClinVarID:Yes ClinVarID:93327 InheritancePattern:AutosomalDominant Familial CivicName:P86A(c.256C>G) cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoALA MutationType:missense_variant;transversion inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.1380050109
  8. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Coexistence of VHL Disease and CPT2 Deficiency: A Case Report
    2
    1. ClingenBaseline 11 Nov 2026
      cousin

      PatientID: V-6

      KindredID: 1

      Case: M, Age Uknown, Ethnicity Unknown

      DiseaseAssertion: VHL

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

      CasePresentingHPOs: HP:0002666; HP:0030424 (Pheochromocytoma, Epididymal cyst)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 7728151(family 4416); 20375333

      SupplementalData: Information obtained from Figure 1.

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: P86A (c.256C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:epididymalcyst Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoALA ClinVarID:93327 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:P86A(c.256C>G) Familial FamilyPedigree SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 07 Nov 2026
      mother

      PatientID: IV-8

      KindredID: 1

      Case: F, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

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

      CasePresentingHPOs: HP:0010797; HP:0000107; HP:0030405; HP:0009711 (Hemangioblastoma, Renal cyst, Pancreatic endocrine tumor, Retinal capillary hemangioma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 7728151(family 4416); 20375333

      SupplementalData: Information obtained from Figure 1.

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: P86A (c.256C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma DiseaseEntity:renalcyst DiseaseEntity:pancreaticendocrinetumor Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoALA ClinVarID:93327 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:P86A(c.256C>G) Familial FamilyPedigree SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5080814/
  9. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Family history of von Hippel–Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients
    1
    1. ClingenBaseline 10 Nov 2026
      probands

      PatientID: 2

      KindredID: 2

      Case: Sex Unknown, 33Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: Patient had no family history of VHL disease. Although, patient’s daughter possesses the same mutation.

      CohortInfo: 16 Chinese patients clinically diagnosed with VHL disease.

      CasePresentingHPOs: HP:0009711; HP:0005584; HP:0001732; HP:0002666 (retinal capillary hemangioma; renal cell carcinoma; abnormality of the pancreas; pheochromocytoma)

      CaseHPOFreeText: The patient presented with retinal capillary hemangioma at age 12, as well as renal cell carcinoma, abnormality of the pancreas, and pheochromocytoma at age 33.

      CaseNotHPOs: HP:0030424, HP:0030393, HP:0010797 (epididymal cyst, endolymphatic sac tumor, hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: P86S (c.256C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma DiseaseEntity:pheochromocytoma DiseaseEntity:abnormalityofthepancreas AgeOfPresentation:retinalcapillaryhemangioma:12 AgeOfPresentation:renalcellcarcinoma:33 AgeOfPresentation:abnormalityofthepancreas:33 AgeOfPresentation:pheochromocytoma:33 CivicName:P86S(c.256C>T) ClinVarID:178692 ClinVarID:Yes Ethnicity:Chinese cDNAPosition:256 ProteinPosition:86 AminoAcidChange:PROtoSER Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/22357542/
  10. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype-phenotype correlation in von Hippel-Lindau disease
    1
    1. ClingenBaseline 09 Nov 2026
      1 (100)

      GroupID: 23

      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.P86A (c.256C>G)

      LegacyVariant: N/A

      GroupProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: P86A (c.256C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoALA MutationType:missense_variant;transversion CivicName:P86A(c.256C>G) ClinVarID:93327 ClinVarID:Yes SupplementalData DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1111/aos.14843
  11. pubmed-ncbi-nlm-nih-gov.proxy1.lib.uwo.ca pubmed-ncbi-nlm-nih-gov.proxy1.lib.uwo.ca
    Efficacy of gene testing for von Hippel-Lindau disease
    1
    1. ClingenBaseline 07 Nov 2026

      PatientID:3

      KindredID: 3

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: None.

      CohortInfo:Between September 1994 and December 1997, 16 unrelated individuals were referred to Genetic Services of Western Australia by local clinicians and by similar genetic services in other States, for VHL gene mutation analysis because of clinical manifestations suggestive of the diagnosis.

      CasePresentingHPOs: HP:0009711, HP:0010797, HP:0005584, HP:0001737 (retinal capillary hemangioma, hemangioblastoma, renal cell carcinoma, pancreatic cysts)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0002666 (pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant:p.P86S (c.469C>T)

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence:N/A

      MutationType: missense_variant;transition

      CivicName: P86S (c.256C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL AssumedRefSeq:AF010238.1 Mutation:Germline NonFamilial DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts cDNAposition:256 CivicName:P86S(c.256C>T) AminoAcidChange:PROtoSER ProteinPosition:86 ClinVarID:178692 ClinVarID:Yes MutationType:missense_variant;transition inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed-ncbi-nlm-nih-gov.proxy1.lib.uwo.ca/9830390/
  12. academic.oup.com academic.oup.com
    In silico VHL Gene Mutation Analysis and Prognosis of Pancreatic Neuroendocrine Tumors in von Hippel–Lindau Disease
    1
    1. ClingenBaseline 07 Nov 2026
      P86S (26) 4 

      GroupID: None

      DiseaseAssertion: VHL

      GroupSize: 4

      GroupNumberMales:N/A

      GroupNumberFemales:N/A

      GroupEthnicity: N/A

      GroupAgeRange: ≥12

      GroupInfo: The four patients were grouped by mutation.

      GroupPresentingHPOs: HP:0001732 (abnormality of the pancreas)

      GroupHPOFreeText: N/A

      GroupNotHPOs:N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant:N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence:N/A

      MutationType: missense_variant;transition

      CivicName: P86S (c.256C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL NoFamilyInfo cDNAposition:256 CivicName:P86S(c.256C>T) AminoAcidChange:PROtoSER ProteinPosition:86 MutationType:missense_variant;transition ClinVarID:178692 ClinVarID:Yes DiseaseEntity:abnormalityofthepancreas ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    academic.oup.com/jcem/article/103/4/1631/4774929
  13. journals.lww.com journals.lww.com
    Endocrine Pancreatic Tumors in von Hippel-Lindau Disease:... : Pancreas
    1
    1. ClingenBaseline 07 Nov 2026
      21 missense mutations

      PatientID: 7

      KindredID: 503

      Case: Sex unknown, Age unknown, French

      DiseaseAssertion: VHL

      FamilyInfo: One other member belonging to family 503 was mentioned (Patient: 15). This patient was found to have a pancreatic endocrine tumour without pheochromocytoma or renal cell carcinoma.

      CasePresentingHPOs: HP:0030405; HP:0002666; HP:0005584 (pancreatic endocrine tumour, pheochromocytoma, renal cell carcinoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence:N/A

      MutationType: missense_variant;transition

      CivicName: P86S (c.256C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Familial Ethnicity:French Mutation:Germline DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:renalcellcarcinoma DiseaseEntity:pheochromocytoma ClinVarID:178692 ClinVarID:Yes AssumedRefSeq:NM_000551.3 CivicName:P86S(c.256C>T) cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoSER MutationType:missense_variant;transition inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    journals.lww.com/pancreasjournal/fulltext/2008/07000/endocrine_pancreatic_tumors_in_von_hippel_lindau.13.aspx
  14. www-sciencedirect-com.proxy1.lib.uwo.ca www-sciencedirect-com.proxy1.lib.uwo.ca
    Germline mutations in the von Hippel–Lindau gene in Italian patients
    1
    1. ClingenBaseline 07 Nov 2026
      VHL-15c.256C > Tp.Pro86Ser[27]noA2+–+–––

      PatientID: VHL-15

      KindredID: 15

      Case: Sex Unknown, Age Unknown, Italian

      DiseaseAssertion: VHL

      FamilyInfo: No family history of VHL.

      CohortInfo: Forty-three index cases were referred to the Service of Medical Genetics, Genova, for germline mutation analysis in the VHL gene between 1995 and 2008.

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

      CaseHPOFreeText: CNS hemangioblastoma. Clinical classification: A2.

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86S (c.256C>T)

      MultipleGeneVariants: N/A

      Ethnicity:Italian DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:abnormalityofthepancreas Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoSER ClinVarID:178692 ClinVarID:Yes MutationType:missense_variant;transition CivicName:P86S(c.256C>T) NoFamilyInfo NonFamilial InheritancePattern:DeNovoAssertion inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    www-sciencedirect-com.proxy1.lib.uwo.ca/science/article/pii/S1769721209000664
  15. Nov 2026
  16. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease
    2
    1. ClingenBaseline 06 Nov 2026
      19p.P86S>18NAffected1 Hb, KC, PC, 1 RCC+ 1RCC, 1 Hb, ELST, ✞

      PatientID: None

      KindredID: 19

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

      DiseaseAssertion: assumed VHL

      FamilyInfo: None

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

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

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: P86S(c.256C>T)

      MultipleGeneVariants: N/A

      AssumedRefSeq:NM_000551.3 InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts DiseaseEntity:endolymphaticsactumor NoFamilyInfo ClinVarID:Yes ClinVarID:178692 ProteinPosition:86 CivicName:P86S(c.256C>T) cDNAposition:256 AminoAcidChange:PROtoSER MutationType:missense_variant;transition inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 04 Nov 2026
      43p.P86S>18YAffected1 Hb+ 3 Hb, 2 RCC, PCA, 1 Pheo

      PatientID: None

      KindredID: 43

      Case: Sex and Ethnicity unknown; Age >18Y0M

      DiseaseAssertion: assumed VHL

      FamilyInfo: None

      CasePresentingHPOs: HP:0010797; HP:0005584; HP:0002894; HP:0002666 (hemangioblastoma, renal cell carcinoma, neoplasm of the pancreas, pheochromocytoma)

      CaseHPOFreeText: 1 HB at initial screening, as well as an additional 3 HB, 2 RCC, 1 pheochromocytoma, and pancreatic cancer at final screening (5 year follow up).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 16572651

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: P86S(c.256C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:neoplasmofthepancreas DiseaseEntity:pheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:P86S(c.256C>T) cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoSER MutationType:missense_variant;transition ClinVarID:178692 ClinVarID:Yes NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC2822817/
  17. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germ‐line Mutation Analysis in Patients with von Hippel‐Lindau Disease in Japan: An Extended Study of 77 Families
    2
    1. ClingenBaseline 06 Nov 2026

      PatientID: None

      KindredID: 64

      Case: Sex Unknown, Age Unknown, Japanese

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797 (Hemangioblastoma)

      CaseHPOFreeText: CNS hemangioblastoma.

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: c.469C>T

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86S (c.256C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Japanese DiseaseEntity:VHL DiseaseEntity:hemangioblastoma Mutation:Germline RefSeq:AF010238.1 cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoSER ClinVarID:178692 ClinVarID:Yes MutationType:missense_variant;transition CivicName:P86S(c.256C>T) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 06 Nov 2026

      PatientID: None

      KindredID: 39

      Case: Sex Unknown, Age Unknown, Japanese

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0009711 (Retinal capillary hemangioma)

      CaseHPOFreeText: Retinal angioma.

      CaseNotHPOs: HP:0005584; HP:0001732; HP:0010797 (Renal cell carcinoma, Abnormality of the pancreas, Hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 8634692

      SupplementalData: N/A

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

      LegacyVariant: c.470C>T

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86L (c.257C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Japanese DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline RefSeq:AF010238.1 cDNAposition:257 ProteinPosition:86 AminoAcidChange:PROtoLEU ClinVarID:182977 ClinVarID:Yes MutationType:missense_variant;transition CivicName:P86L(c.257C>T) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10761708/
  18. link.springer.com link.springer.com
    Germline mutations in the von Hippel–Lindau disease (VHL) gene in mainland Chinese families
    2
    1. ClingenBaseline 06 Nov 2026
      In family 9 in our series, we identified a VHL germline mutation(470 C>T, Pro86Leu) in a 53 years old woman (proband 9) with asynchronous bilateral renal clear cell carcinomas, multiple renal cysts and pancreatic cysts and with no positive family history, in her younger brother with a single phenotype (pancreatic cysts),and in her niece with no detectable VHL lesions. It is of interest that we find the same mutation in another unrelated VHL family (family 10) in which affected patients have severe phenotypes including multiple CNS haemangioblastoma, retinal angiomas, bilateral RCCs and pancreatic cysts. Compared with the family 10, it is very likely that the affected members in the family 9 will develop CNS haemangioblastoma and retinal angiomas in the future.

      PatientID: II-1 (proband)

      KindredID: 9

      Case: F, 53Y0M, Chinese

      DiseaseAssertion: assumed VHL

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

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

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

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

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

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: P86L (c.257C>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma Mutation:Germline DiseaseEntity:renalcellcarcinoma DiseaseEntity:abnormalityofthepancreas RefSeq:AF010238.1 ProteinPosition:86 CivicName:P86L(c.257C>T) AminoAcidChange:PROtoLEU MutationType:missense_variant;transition ClinVarID:Yes ClinVarID:182977 Ethnicity:Chinese InheritancePattern:AutosomalDominant Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 04 Nov 2026
      C>T substitution at nucleotide 470 (Pro86Leu)

      GroupID/ KindredID: 10

      DiseaseAssertion: assumed VHL

      GroupSize: 4

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: Chinese

      GroupAgeRange: N/A

      GroupInfo: With a family history, 4 family members were recorded in this group with the given mutation.

      GroupPresentingHPOs: HP:0005584; HP:0001732; HP:0010797; HP:0009711 (Renal cell carcinoma, abnormality of the pancreas, hemangioblastoma, retinal capillary hemangioma)

      GroupHPOFreeText: 2 members had renal cell carcinoma, 1 had an abnormality of the pancreas, 1 had a CNS hemangioblastoma, and 1 had retinal capillary hemangioma

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: No family members appeared to have the above manifestation.

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

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

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: P86L (c.257C>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL Mutation:Germline DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:abnormalityofthepancreas RefSeq:AF010238.1 ProteinPosition:86 CivicName:P86L(c.257C>T) cDNAposition:257 AminoAcidChange:PROtoLEU MutationType:missense_variant;transition Familial FamilyCohort InheritancePattern:AutosomalDominant ClinVarID:Yes ClinVarID:182977 Ethnicity:Chinese inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s00432-008-0399-x
  19. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Coexistence of VHL Disease and CPT2 Deficiency: A Case Report
    1
    1. ClingenBaseline 06 Nov 2026
      maternal aunts

      PatientID: IV-10

      KindredID: 1

      Case: F, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

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

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

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 7728151(family 4416); 20375333

      SupplementalData: Information obtained from Figure 1.

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: P86A (c.256C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticendocrinetumor Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoALA ClinVarID:93327 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:P86A(c.256C>G) Familial FamilyPedigree SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5080814/
  20. www-sciencedirect-com.myaccess.library.utoronto.ca www-sciencedirect-com.myaccess.library.utoronto.ca
    Whole-Exome Sequencing Reveals Novel Variations in Patients with Familial Von Hippel-Lindau Syndrome
    1
    1. ClingenBaseline 06 Nov 2026
      IV2(A002)−−−−−Female

      PatientID: (IV2)A002

      KindredID: A

      Case: F, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Asymptomatic

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

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

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

      MutationType: missense_variant; transition

      CivicName: P86S (c.256C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:NM_000551.3 DiseaseEntity:asymptomatic Familial FamilyPedigree CivicName:P86S(c.256C>T) cDNAPosition:256 ProteinPosition:86 AminoAcidChange:PROtoSER ClinVarID:178692 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    www-sciencedirect-com.myaccess.library.utoronto.ca/science/article/pii/S1878875021004599
  21. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    von Hippel-Lindau disease: renal tumors less than 3 cm. can metastasize
    2
    1. ClingenBaseline 06 Nov 2026

      PatientID: None (Proband)

      KindredID: 1

      Case: F, 49Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Her daughter and son both had the same VHL gene mutation.

      CasePresentingHPOs: HP:0008261, HP:0005584, HP:0006737, HP:0100561 (Pancreatic islet cell adenoma, renal cell carcinoma, Extraadrenal pheochromocytoma, spinal cord lesion )

      CaseHPOFreeText: The patient was screened for disease manifestations. Abdominal magnetic resonance imaging (MRI) and computerized tomography (CT) showed pancreatic and renal masses and a para-aortic mass. At laparotomy a benign islet cell tumor, an encapsulated renal cell carcinoma of low nuclear grade and an extra-adrenal pheochromocytoma were removed. At 27 months postoperatively the patient presented with back pain and clinical signs of spinal cord compression at the T9 level. No other primary tumors could be detected despite extensive radiological investigation. Intravertebral biopsy demonstrated metastatic renal cell cancer. The spinal lesion did not respond to radiotherapy. The patient died 31 months after diagnosis and postmortem examination was declined.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86L (c.257C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL MutationType:missense_variant;transition Familial DiseaseEntity:renalcellcarcinoma DiseaseEntity:extraadrenalpheochromocytoma DiseaseEntity:pancreaticisletcelladenoma DiseaseEntity:spinalcordlesion AgeOfPresentation:pancreaticisletcelladenoma:47 AgeOfPresentation:renalcellcarcinoma:47 AgeOfPresentation:renalcellcarcinoma:49 AgeOfPresentation:extraadrenalpheochromocytoma:47 AgeOfPresentation:spinalcordlesion:49 cDNAposition:257 ProteinPosition:86 ClinVarID:182977 ClinVarID:Yes CivicName:P86L(c.257C>T) AminoAcidChange:PROtoLEU inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 04 Nov 2026

      PatientID: None (Son)

      KindredID: 1

      Case: M, Age Unknown, Ethnicity Unknown

      DiseaseAssertion:Asymptomatic

      FamilyInfo: The patient's mother had pancreatic islet cell adenoma, renal cell carcinoma, extraadrenal pheochromocytoma, and spinal cord lesion. His sister had the same VHL gene mutation.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86L (c.257C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 MutationType:missense_variant;transition Familial DiseaseEntity:Asymptomatic cDNAposition:257 ProteinPosition:86 ClinVarID:Yes ClinVarID:182977 CivicName:P86L(c.257C>T) AminoAcidChange:PROtoLEU inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/11257676/
  22. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients
    2
    1. ClingenBaseline 06 Nov 2026
      35 (45%) had missense variants

      PatientID: 16

      KindredID: 16

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

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

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0100634; HP:0030421 (Neuroendocrine neoplasm, Epididymal neoplasm)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

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

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

      LegacyVariant: p.P157L (c.470C>T)

      CaseProblemVariantFreeText: converted from legacy notation c.470C>T; Pro157Leu; authors contacted and confirmed this error. [from reported previously Aronoff et al, 2018].

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: P86L (c.257C>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pancreaticendocrinetumor CivicName:P86L(c.257C>T) cDNAposition:257 ProteinPosition:86 AminoAcidChange:PROtoLEU MutationType:missense_variant;transition RefSeq:NM_000551.3 ClinVarID:182977 ClinVarID:Yes NoFamilyInfo Mutation:Germline SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 02 Nov 2026
      35 (45%) had missense variant

      PatientID: 29

      KindredID: 29

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

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

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0100634; HP:0030405; HP:0030421 (Neuroendocrine neoplasm, pancreatic neuroendocrine neoplasm, Epididymal neoplasm)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

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

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

      LegacyVariant: p.P157L (c.470C>T)

      CaseProblemVariantFreeText: converted from legacy notation c.470C>T; Pro157Leu; authors contacted

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: P86L (c.257C>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:hemangioblastoma DiseaseEntity:VHL DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:retinalcapillaryhemangioma SupplementalData ProteinPosition:86 CivicName:P86L(c.257C>T) cDNAposition:257 AminoAcidChange:PROtoLEU MutationType:missense_variant;transition ClinVarID:182977 ClinVarID:Yes NoFamilyInfo Mutation:Germline RefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/full/10.1111/cge.13613
  23. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions
    1
    1. ClingenBaseline 06 Nov 2026

      GroupID: 503

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: French

      GroupAgeRange: N/A

      GroupInfo: 2 members of this family presented with germline variants c.256C>T of the VHL gene. Member 10602 presented with moderate renal disease (RCC) and member 10603 presented with mild renal disease. Families were recruited from the French VHL Registry. Enrolment in the study required identification of the germline VHL mutation (currently 85% of the families included in the French VHL Registry) and available data regarding renal phenotype. A total of 126 families fulfilled these criteria.

      GroupPresentingHPOs: HP:0005584 (Renal cell carcinoma)

      GroupHPOFreeText: Mild renal disease (simple renal cyst, multicystic kidney[s], small lesion [less than 10 mm in size] of unknown significance, or small solid tumor without indication for surgical removal [less than 30 mm in size]). Moderate renal disease (less than five solid lesions requiring surgical treatment, either unilateral or bilateral).

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Phenotype and genotype information can be found in Supplementary Table S1.

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86S (c.256C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:French DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma Mutation:Germline RefSeq:NM_000551.3 cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoSER ClinVarID:178692 ClinVar:Yes MutationType:missense_variant;transition CivicName:P86S(c.256C>T) Familial FamilyCohort SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/15300849/
  24. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Clinical features of pancreatic involvement in von Hippel-Lindau disease: a retrospective study of 55 cases in a single center
    1
    1. ClingenBaseline 06 Nov 2026

      PatientID: 6

      KindredID: 6

      Case: F, 29Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: 55 patients treated at Asan Medical Center in Korea treated between January 1995 and February 2013 clinically diagnosed with VHL disease and presenting with pancreatic lesions.

      CasePresentingHPOs: HP:0001737, HP:0030405 (pancreatic cysts, pancreatic endocrine tumor)

      CaseHPOFreeText: The patient presented with serous cystadenoma and pancreatic endocrine tumour at age 26. She was followed up 35.8 months later when her disease was reported to have progressed.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant:N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86S (c.256C>T)

      MultipleGeneVariants: N/A

      MutationType:missense_variant;transition InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL Ethnicity:Korean NoFamilyInfo DiseaseEntity:pancreaticcysts DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pancreaticendocrinetumor:26 AgeOfPresentation:pancreaticcysts:26 cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoSER ClinVarID:178692 CivicName:P86S(c.256C>T) ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/25562111/
  25. 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
    3
    1. ClingenBaseline 06 Nov 2026

      PatientID: 105

      KindredID: 105

      Case: Sex Unknown, 33Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Family history noted but no details provided.

      CasePresentingHPOs: HP:0000107; HP:0009711; HP:0010797; HP:0001732 (Renal cyst, Retinal capillary hemangioma, Hemangioblastoma, Abnormality of the pancreas)

      CaseHPOFreeText: CNS hemangioblastoma, pancreatic cyst or tumor, renal cystic lesion and retinal hemangioblastoma.

      CaseNotHPOs: HP:0006770; HP:0002666 (Clear cell renal cell carcinoma, Pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table S1, S2 and S3

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: P86A (c.256C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:abnormalityofthepancreas DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcyst Mutation:Germline RefSeq:NM_000551.3 cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoALA ClinVarID:93327 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:P86A(c.256C>G) NoFamilyInfo Familial SupplementalData ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 05 Nov 2026

      PatientID: 110

      KindredID: 110

      Case: Sex Unknown, 59Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Family history noted but no details provided.

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

      CaseHPOFreeText: Pancreatic cyst or tumor and pheochromocytoma.

      CaseNotHPOs: HP:0000107; HP:0009711; HP:0010797; HP:0006770 (Renal cyst, Retinal capillary hemangioma, Hemangioblastoma, Clear cell renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table S1, S2 and S3

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: P86A (c.256C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:abnormalityofthepancreas DiseaseEntity:pheochromocytoma Mutation:Germline RefSeq:NM_000551.3 cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoALA ClinVarID:93327 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:P86A(c.256C>G) NoFamilyInfo Familial SupplementalData ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    3. ClingenBaseline 05 Nov 2026

      PatientID: 89

      KindredID: 89

      Case: Sex Unknown, 49Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Positive VHL family history.

      CasePresentingHPOs: HP:0009711, HP:0006770 (retinal capillary hemangioma, clear cell renal cell carcinoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0010797, HP:0001737, HP:0002666, HP:0000107 ( hemangioblastoma, pancreatic cyst, pheochromocytoma, renal cyst)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table S1, S2, S3.

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: CA020186 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.257C%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86L(c.257C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:clearcellrenalcellcarcinoma Familial SupplementalData ProteinPosition:86 AminoAcidChange:PROtoLEU CivicName:P86L(c.257C>T) RefSeq:NM_000551.3 cDNAposition:257 MutationType:missense_variant;transition CAID:CA020186 ClinVarID:182977 Mutation:Germline ClinVarID:Yes ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/21463266/
  26. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan
    1
    1. ClingenBaseline 06 Nov 2026

      GroupID: 39

      Case: Sex Unknown, Age Unknown, Japanese

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0009711(retinal capillary hemangioma)

      CaseHPOFreeText: N/A

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: p.P157L (c.470C>T)

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86L(c.257C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Ethnicity:Japanese DiseaseEntity:retinalcapillaryhemangioma ProteinPosition:86 AminoAcidChange:PROtoLEU Mutation:Germline CivicName:P86L(c.257C>T) cDNAposition:257 MutationType:missense_variant;transition ClinVarID:182977 ClinVarID:Yes NoFamilyInfo AssumedRefSeq:AF010238.1 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/8634692/
  27. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype-phenotype correlation in von Hippel-Lindau disease
    2
    1. ClingenBaseline 05 Nov 2026
      2 (50)

      GroupID: 24a

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

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

      GroupPresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      GroupHPOFreeText: These 2/4 patients with a P86H (c.257C>A) mutation had retinal capillary hemangiomas. Other VHL manifestations were discussed but not per- variant.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P86H (c.257C>A)

      LegacyVariant: N/A

      GroupProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351750632 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.257C>A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: P86H (c.257C>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:VHL SupplementalData NoFamilyInfo AminoAcidChange:PROtoHIS ProteinPosition:86 cDNAposition:257 MutationType:missense_variant;transversion CivicName:P86H(c.257C>A) CAID:CA351750632 ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 04 Nov 2026
      2 (50)

      GroupID: 24b

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

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

      GroupPresentingHPOs: N/A

      GroupHPOFreeText: These 2/4 patients with a P86H (c.257C>A) mutation did NOT have retinal capillary hemangiomas. Other VHL manifestations were discussed but not per- variant.

      GroupNotHPOs: HP:0009711 (retinal capillary hemangioma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P86H (c.257C>A)

      LegacyVariant: N/A

      GroupProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351750632 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.257C>A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: P86H (c.257C>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL MutationType:missense_variant;transversion ProteinPosition:86 cDNAposition:257 CivicName:P86H(c.257C>A) AminoAcidChange:PROtoHIS CAID:CA351750632 ClinVarID:N/A SupplementalData NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1111/aos.14843
  28. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Von Hippel-Lindau disease germline mutations in Mexican patients with cerebellar hemangioblastoma
    1
    1. ClingenBaseline 05 Nov 2026
      Ninety-eight individuals were tested for VHL mutations--23 symptomatic and 75 asymptomatic individuals belonging to 16 families. Seven of the families had definite clinical criteria of VHL disease, five had sporadic hemangioblastoma, and four had CNS hemangioblastoma combined with minor visceral signs. Molecular genetic testing identified five germline mutations in six of the definite VHL families (sensitivity 85%), but none in the possible VHL and sporadic hemangioblastoma cases; four of these mutations had been previously described and one is a novel mutation present in two unrelated families. After patients carrying the mutation were identified, they underwent clinical screening and asymptomatic VHL-related lesions were identified in 43%.

      PatientID: 26

      KindredID: F

      Case: Sex Unknown, 30Y0M, Mexican (Latino/Admixed American)

      DiseaseAssertion: assumed VHL

      FamilyInfo: No family history of VHL or pheochromocytoma

      CasePresentingHPOs: HP:0006880; HP:0000107; HP:0005584 (cerebellar hemangioblastoma, renal cyst, renal cell carcinoma)

      CaseHPOFreeText: Symptomatic by 30Y, clinically manifested as 1 recurrent cerebellar hemangioblastoma, renal cyst, bilateral renal cell carcinoma

      CaseNotHPOs: HP:0002666 (pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 20064270

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: P86S(c.256C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Mexican Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:renalcyst DiseaseEntity:renalcellcarcinoma CivicName:P86S(c.256C>T) cDNAposition:256 AminoAcidChange:PROtoSER MutationType:missense_variant;transition ProteinPosition:86 ClinVarID:178692 ClinVarID:Yes NonFamilial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/16572651/
  29. journals.lww.com journals.lww.com
    Endocrine Pancreatic Tumors in von Hippel-Lindau Disease:... : Pancreas
    1
    1. ClingenBaseline 04 Nov 2026
      21 missense mutations

      PatientID: 27

      KindredID: 11

      Case: Sex unknown, Age unknown, French

      DiseaseAssertion: VHL

      FamilyInfo: None

      CasePresentingHPOs: HP:0030405; HP:0002666; HP:0005584 (pancreatic endocrine tumour, pheochromocytoma, renal cell carcinoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence:N/A

      MutationType: missense_variant;transition

      CivicName: P86S (c.256C>T)

      MultipleGeneVariants: N/A

      CivicName:P86S(c.256C>T) cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoSER MutationType:missense_variant;transition NoFamilyInfo DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:pheochromocytoma DiseaseEntity:renalcellcarcinoma ClinVarID:178692 EvidenceStatement InheritancePattern:AutosomalDominant Ethnicity:French Mutation:Germline AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    journals.lww.com/pancreasjournal/fulltext/2008/07000/endocrine_pancreatic_tumors_in_von_hippel_lindau.13.aspx
  30. academic.oup.com academic.oup.com
    In silico VHL Gene Mutation Analysis and Prognosis of Pancreatic Neuroendocrine Tumors in von Hippel–Lindau Disease
    1
    1. ClingenBaseline 04 Nov 2026
      P86R (25) 4 

      GroupID: None

      DiseaseAssertion: VHL

      GroupSize: 4

      GroupNumberMales:N/A

      GroupNumberFemales:N/A

      GroupEthnicity: N/A

      GroupAgeRange: ≥12

      GroupInfo: The four patients were grouped by mutation.

      GroupPresentingHPOs: HP:0001732 (abnormality of the pancreas)

      GroupHPOFreeText: N/A

      GroupNotHPOs:N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P86R(c.257C>G)

      LegacyVariant:N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223170 https://www.ncbi.nlm.nih.gov/clinvar/variation/223170/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: P86R(c.257C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL NoFamilyInfo cDNAposition:257 CivicName:P86R(c.257C>G) ProteinPosition:86 AminoAcidChange:PROtoARG ClinVarID:223170 ClinVarID:Yes MutationType:missense_variant;transversion DiseaseEntity:abnormalityofthepancreas ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    academic.oup.com/jcem/article/103/4/1631/4774929
  31. erc.bioscientifica.com erc.bioscientifica.com
    Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways
    1
    1. ClingenBaseline 03 Nov 2026
      VHL_5Frozenc.256C>Tp.Pro86SerM30AdrenalPCCB

      PatientID: VHL_5 (tumor ID)

      KindredID: 5

      Case: M, 30Y0M, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: The patient had a benign adrenal pheochromocytoma at 30Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86S (c.256C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:30 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoSER ClinVarID:178692 ClinVarID:Yes MutationType:missense_variant;transition CivicName:P86S(c.256C>T) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    erc.bioscientifica.com/view/journals/erc/20/4/477.xml
  32. www.nature.com www.nature.com
    A family with hydrocephalus as a complication of cerebellar hemangioblastoma: identification of Pro157Leu mutation in the VHL gene
    1
    1. ClingenBaseline 02 Nov 2026
      We report on a Japanese VHL family

      PatientID: 2

      KindredID: 1

      Case: F, 39Y0M, Japanese

      DiseaseAssertion: assumed VHL

      FamilyInfo: Her older daughter (P1) with cerebellar hemangioblastoma, retinal capillary hemangioma, pancreatic cysts and a hearing impairment, and her younger daughter (P3) with cerebellar hemangioblastoma, spinal cord tumor, retinal capillary hemangioma, pancreatic and renal cysts both had the p.P86L VHL mutation. Her husband did not.

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

      CaseHPOFreeText: At age 39, suffering from retinal angiomas and a cerebellar hemangioblastoma, she underwent surgery for removal of the brain tumor in another hospital. After the operation she suffered from left facial palsy.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86L (c.257C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Japanese Familial FamilyPedigree DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:cerebellarhemangioblastoma:39 Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:86 CivicName:P86L(c.257C>T) cDNAposition:257 AminoAcidChange:PROtoLEU MutationType:missense_variant;transition ClinVarID:182977 ClinVarID:Yes DiseaseEntity:VHL inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    nature.com/articles/jhg20009
  33. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype–phenotype correlations in von Hippel-Lindau disease
    1
    1. ClingenBaseline 01 Nov 2026

      GroupID: 59

      Case: 35Y0M, 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.256C>T) was found in 1 VHL family with a single patient.

      CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

      CaseHPOFreeText: patient had cerebellar hemangioblastoma diagnosed at 35Y

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S1.

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

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86S (c.256C>T)

      MultipleGeneVariants: N/A

      CivicName:P86S(c.256C>T) cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoSER MutationType:missense_variant;transition ClinVarID:178692 ClinVarID:Yes DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:cerebellarhemangioblastoma:35 NoFamilyInfo DiseaseEntity:VHL SupplementalData RefSeq:NM_000551.2 InheritancePattern:AutosomalDominant ExperimentalAssay Mutation:Germline inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.20385
  34. journals.lww.com journals.lww.com
    Pancreatic endocrine microadenomatosis in patients with von Hippel-Lindau disease: characterization by VHL/HIF pathway proteins expression
    1
    1. ClingenBaseline 01 Nov 2026
      Eighteen VHL patients who underwent pancreatectomy for one or several endocrine tumors at Beaujon hospital from 1997 to 2008 were retrieved from the file of VHL patients (Table 1).

      PatientID: 5

      KindredID: 5

      Case: M, 46Y0M, Ethnicity unknown

      DiseaseAssertion: pancreatic endocrine tumor

      FamilyInfo: None

      CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumor)

      CaseHPOFreeText: See Table 1 for more information

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

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

      CAID: CA020180 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.256C%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: P86S (c.256C>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:P86S(c.256C>T) MutationType:missense_variant;transition ProteinPosition:86 cDNAposition:256 AminoAcidChange:PROtoSER CAID:CA020180 ClinVarID:178692 NoFamilyInfo ClinVarID:Yes InheritancePattern:AutosomalDominant ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    journals.lww.com/ajsp/fulltext/2009/05000/pancreatic_endocrine_microadenomatosis_in_patients.9.aspx
  35. 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 01 Nov 2026
      1 Italy c.256C>G p.Pro86Ala

      GroupID: 5

      Case: Sex unknown, Age unknown, Italian

      DiseaseAssertion: VHL

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

      CasePresentingHPOs: HP:0030393 (Endolymphatic sac tumor)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: P86A (c.256C>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:endolymphaticsactumor Mutation:Germline RefSeq:NM_000551.3 cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoALA CivicName:P86A(c.256C>G) MutationType:missense_variant;transversion ClinVarID:93327 ClinVarID:Yes Ethnicity:Italian inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/full/10.1002/hed.24067
  36. Oct 2026
  37. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Von Hippel-Lindau disease with multiple malignant renal tumors: the importance of genetic testing
    2
    1. ClingenBaseline 31 Oct 2026

      PatientID: None

      KindredID: 1

      Case: M, 19Y0M, Caucasian

      DiseaseAssertion: VHL

      FamilyInfo: The patient had a son who was asymptomatic but had the VHL gene mutation. The patient's brother (the proband) had the VHL mutation and presented with hypertension, renal cell carcinoma, papillary cystadenoma of the epididymis, renal cyst, and pancreatic cysts. The patient’s father died of renal cell carcinoma at the age of 49. The patient's mother had uterine cancer, the paternal grandmother died at age 92 years of pancreatic cancer, a paternal grandfather died at age 52 years from lung cancer, and the paternal grandfather’s nephew had been diagnosed with a brain tumor. Refer to pedigree at Figure 3.

      CasePresentingHPOs: HP:0009713 (Spinal hemangioblastoma)

      CaseHPOFreeText: The patient had spinal hemangioblastomas at age 19.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

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

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: P86L (c.257C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:AF010238.1 Familial FamilyPedigree MutationType:missense_variant;transition Ethnicity:Caucasian DiseaseEntity:VHL DiseaseEntity:spinalhemangioblastoma AgeOfPresentation:spinalhemangioblastoma:19 ProteinPosition:86 CivicName:P86L(c.257C>T) cDNAposition:257 AminoAcidChange:PROtoLEU ClinVarID:182977 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 31 Oct 2026

      PatientID: None

      KindredID: 1

      Case: M, 40Y0M, Caucasian

      DiseaseAssertion: VHL

      FamilyInfo: The patient’s father died of renal cell carcinoma at the age of 49, his brother had a spinal hemangioblastoma which was removed at 19 years of age (he was confirmed with this germline mutation) and he had a son who was asymptomatic but was confirmed with this germline mutation. The patient's mother had uterine cancer, the paternal grandmother died at age 92 years of pancreatic cancer, a paternal grandfather died at age 52 years from lung cancer, and the paternal grandfather’s nephew had been diagnosed with a brain tumor. Refer to pedigree at Figure 3.

      CasePresentingHPOs: HP:0000822, HP:0005584, HP:0009715, HP:0000107, HP:0001737 (Hypertension, renal cell carcinoma, papillary cystadenoma of the epididymis, renal cyst, pancreatic cysts)

      CaseHPOFreeText: His past medical history was significant only for hypertension for three years for which he took atenolol and terazosin. Renal angiography demonstrated multiple vascular lesions involving both kidneys with an angiographic pattern consistent with malignancy. Renal pathology revealed multiple foci of renal cell carcinoma with nine tumors in the right kidney and evidence of micrometastases. The adjacent parenchyma was filled with multiple, dilated cysts. There was evidence of tumor extension into the proximal renal veins and the perinephric fatty tissue.The pathologic findings of the left kidney were similar to the right kidney and demonstrated multiple foci of renal cell carcinoma. In addition, the patient underwent scrotal exploration and local excision of a complex epididymal mass, which was found to be a clear cell papillary cystadenoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: Magnetic resonance imaging of the brain and spinal cord, and a thorough ophthalmologic examination were performed; all of which were normal.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

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

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: P86L (c.257C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:AF010238.1 Ethnicity:Caucasian DiseaseEntity:VHL Familial FamilyPedigree DiseaseEntity:hypertension DiseaseEntity:renalcellcarcinoma AgeOfPresentation:renalcellcarcinoma:40 DiseaseEntity:Papillarycystadenomaoftheepididymis AgeOfPresentation:Papillarycystadenomaoftheepididymis:40 DiseaseEntity:renalcyst AgeOfPresentation:renalcyst:40 DiseaseEntity:pancreaticcysts AgeOfPresentation:pancreaticcysts:40 CivicName:P86L(c.257C>T) cDNAposition:257 ProteinPosition:86 AminoAcidChange:PROtoLEU ClinVarID:182977 ClinVarID:Yes MutationType:missense_variant;transition inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10749302/
  38. www.nature.com www.nature.com
    A family with hydrocephalus as a complication of cerebellar hemangioblastoma: identification of Pro157Leu mutation in the VHL gene
    1
    1. ClingenBaseline 31 Oct 2026
      We report on a Japanese VHL family in which two of the three affected members developed acute occlusive hydrocephalus that necessitated emergency surgery for ventricular shunt or drainage.

      PatientID: 3

      KindredID: 1

      Case: F, 14Y0M, Japanese

      DiseaseAssertion: assumed VHL

      FamilyInfo: Mother (39Y) with retinal angiomas and cerebellar hemangioblastoma, and her older sister (P1) with cerebellar hemangioblastoma, retinal capillary hemangioma, pancreatic cysts and a hearing impairment both had the p.P86L VHL mutation. Father did not.

      CasePresentingHPOs: HP:0006880; HP:0010302; HP:0009711; HP:0001737; HP:0000107 (cerebellar hemangioblastoma; spinal cord tumor; retinal capillary hemangioma; Pancreatic cysts; renal cyst)

      CaseHPOFreeText: at age 14 had 3 small inter cranial tumors (not removed) and by at 19 years had obstructive hydrocephalus caused by enlargement of the cerebellar tumors (hemangioblastomas). Retinal angiomas were found in the right eye, cystic lesions in the pancreas and the left kidney, and a cystic tumor in the cervical cord

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86L (c.257C>T)

      MultipleGeneVariants: N/A

      ClinVarID:182977 ClinVarID:Yes Mutation:Germline AssumedRefSeq:NM_000551.3 InheritancePattern:AutosomalDominant Familial FamilyPedigree CivicName:P86L(c.257C>T) cDNAposition:257 ProteinPosition:86 AminoAcidChange:PROtoLEU MutationType:missense_variant;transition Ethnicity:Japanese DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:spinalcordtumor DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pancreaticcysts DiseaseEntity:renalcyst AgeOfPresentation:cerebellarhemangioblastoma:14 DiseaseEntity:VHL inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    nature.com/articles/jhg20009
  39. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Germline mutations in the von Hippel–Lindau disease tumor suppressor gene: Correlations with phenotype
    2
    1. ClingenBaseline 30 Oct 2026

      GroupID: 2612

      DiseaseAssertion: assumed VHL

      GroupSize: 7

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Familial VHL stated; 7 family members recorded with this mutation.

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

      GroupHPOFreeText: 5 members had an angioma (retinal hemangioma), 2 had RCC, and all 7 members had CNS hemangioblastoma

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: 19464396

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

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

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

      CAID: CA020186 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.257C%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: P86L (c.257C>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma Mutation:Germline CivicName:P86L(c.257C>T) cDNAposition:257 ProteinPosition:86 AminoAcidChange:PROtoLEU CAID:CA020186 ClinVarID:182977 Familial MutationType:missense_variant;transition RefSeq:AF010238.1 InheritancePattern:AutosomalDominant ClinVarID:Yes DiseaseEntity:retinalcapillaryhemangioma FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 22 Oct 2026

      GroupID: 3568

      DiseaseAssertion: assumed VHL

      GroupSize: 5

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Familial VHL stated; 5 family members recorded with this mutation.

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

      GroupHPOFreeText: 1 member stated with an angioma (retinal hemangioma), 2 members have CNS hemangioblastoma, 4 with RCC.

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: 19464396

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

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

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

      CAID: CA020186 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.257C%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: P86L (c.257C>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma Mutation:Germline AminoAcidChange:PROtoLEU ProteinPosition:86 CAID:CA020186 ClinVarID:182977 Familial MutationType:missense_variant;transition RefSeq:AF010238.1 InheritancePattern:AutosomalDominant ClinVarID:Yes DiseaseEntity:retinalcapillaryhemangioma FamilyCohort CivicName:P86L(c.257C>T) cDNAposition:257 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.1380050109
  40. journals.lww.com journals.lww.com
    Endocrine Pancreatic Tumors in von Hippel-Lindau Disease:... : Pancreas
    1
    1. ClingenBaseline 30 Oct 2026
      21 missense mutations

      PatientID: 15

      KindredID: 503

      Case: Sex unknown, Age unknown, French

      DiseaseAssertion: VHL

      FamilyInfo: One other member belonging to family 503 was mentioned (Patient: 7). This patient was found to have a pancreatic endocrine tumour, pheochromocytoma and renal cell carcinoma.

      CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumour)

      CaseHPOFreeText: N/A

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence:N/A

      MutationType: missense_variant;transition

      CivicName: P86S (c.256C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant MutationType:missense_variant;transition CivicName:P86S(c.256C>T) cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoSER ClinVarID:178692 ClinVarID:Yes Familial Mutation:Germline Ethnicity:French DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    journals.lww.com/pancreasjournal/fulltext/2008/07000/endocrine_pancreatic_tumors_in_von_hippel_lindau.13.aspx
  41. thejns-org.myaccess.library.utoronto.ca thejns-org.myaccess.library.utoronto.ca
    Ruptured intracranial aneurysm associated with von Hippel–Lindau syndrome: a molecular link?
    1
    1. ClingenBaseline 30 Oct 2026
      he patient's mother tested positive for the same point mutation, but neuroimaging showed that she was unaffected by the disease that affected her daughter.

      PatientID: 2

      KindredID: 1

      Case: F, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Asymptomatic

      FamilyInfo: The proband (designated as 'Patient 1') presented with the same germline mutation as her mother (this patient, designated as 'Patient 2'). However, neuroimaging showed that this patient was unaffected by the same disease (spinocerebellar hemangioblastomas) as her daughter. There was no other family history of similar diseases/complaints. In contrast to her mother, the proband presented with subarachnoid hemorrhage at age 17. Six years later (age 23), she presented with cystic lesions in the cerebellar vermis and cervicomedullary region, diagnosed as spinocerebellar hemangioblastomas through tumor biopsy. She underwent a total excision of these tumors.

      CasePresentingHPOs: N/A

      CaseHPOFreeText:

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

      CaseNotHPOFreeText: Neuroimaging showed that this patient was unaffected by the same disease (spinocerebellar hemangioblastomas) as her daughter.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: c.469C>T

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType:missense_variant;transition

      CivicName: P86S (c.256C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:asymptomatic Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoSER ClinVarID:178692 MutationType:missense_variant;transition CivicName:P86S(c.256C>T) Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    thejns-org.myaccess.library.utoronto.ca/pediatrics/view/journals/j-neurosurg-pediatr/104/2/article-p90.xml
  42. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Coexistence of VHL Disease and CPT2 Deficiency: A Case Report
    1
    1. ClingenBaseline 30 Oct 2026
      maternal aunts

      PatientID: IV-12

      KindredID: 1

      Case: F, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

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

      CasePresentingHPOs: HP:0010797, HP:0009711; HP:0001737; HP:0000107; HP:0030405, HP:0030393 (Hemangioblastoma, Retinal capillary hemangioma, Pancreatic cysts, Renal cyst, Pancreatic endocrine tumor, Endolymphatic sac tumor)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 7728151(family 4416); 20375333

      SupplementalData: Information obtained from Figure 1.

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: P86A (c.256C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pancreaticcysts DiseaseEntity:renalcyst DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:endolymphaticsactumor Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoALA ClinVarID:93327 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:P86A(c.256C>G) Familial FamilyPedigree SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5080814/
  43. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    von Hippel-Lindau disease: renal tumors less than 3 cm. can metastasize
    1
    1. ClingenBaseline 29 Oct 2026

      PatientID: None (Daughter)

      KindredID: 1

      Case: F, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Asymptomatic

      FamilyInfo: The patient's mother had pancreatic islet cell adenoma, renal cell carcinoma, extraadrenal pheochromocytoma, and spinal cord lesion. Her brother had the same VHL gene mutation.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86L (c.257C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 MutationType:missense_variant;transition Familial DiseaseEntity:Asymptomatic cDNAposition:257 ProteinPosition:86 ClinVarID:182977 ClinVarID:Yes CivicName:P86L(c.257C>T) AminoAcidChange:PROtoLEU inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/11257676/
  44. 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
      1 France c.256C>T p.Pro86Ser

      GroupID: 6

      Case: Sex unknown, Age unknown, French

      DiseaseAssertion: VHL

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

      CasePresentingHPOs: HP:0030393 (Endolymphatic sac tumor)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: P86S (c.256C>T)

      MultipleGeneVariants: N/A

      ClinVarID:178692 ClinVarID:Yes Mutation:Germline DiseaseEntity:endolymphaticsactumor DiseaseEntity:VHL RefSeq:NM_000551.3 ProteinPosition:86 CivicName:P86S(c.256C>T) cDNAposition:256 AminoAcidChange:PROtoSER MutationType:missense_variant;transition Ethnicity:French inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/full/10.1002/hed.24067
  45. academic.oup.com academic.oup.com
    Hemangioblastomas of Central Nervous System: Molecular Genetic Analysis and Clinical Management
    1
    1. ClingenBaseline 29 Oct 2026
      In Patient 1, who was 40 years old and had a cerebellar hemangioblastoma, the P86L missense heterozygous germline mutation was identified in exon 1. The DNA analysis of close relatives did not show affected subjects. This patient was recommended for VHL disease surveillance protocols (15) (Table 4) and developed a retinal hemangioblastoma 4 years after diagnosis. TABLE 4.von Hippel-Lindau protocol for periodical clinical monitoring (7) Open in new tab

      PatientID: 1

      KindredID: 1

      Case: M, 40Y0M, Italian

      DiseaseAssertion: VHL

      FamilyInfo: None - The DNA analysis of close relatives did not show affected subjects

      CasePresentingHPOs: HP:0006880; HP:0009711 (cerebellar hemangioblastoma; retinal capillary hemangioblastoma)

      CaseHPOFreeText: also had high intercranial pressure; developed a retinal hemangioblastoma 4 years after diagnosis (diagnosis at 32Y0M; rHAB at 36Y0M)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86L (c.257C>T)

      MultipleGeneVariants: N/A

      Ethnicity:Italian DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:cerebellarhemangioblastoma:32 DiseaseEntity:VHL AgeOfPresentation:retinalcapillaryhemangioma:36 ProteinPosition:86 CivicName:P86L(c.257C>T) cDNAposition:257 AminoAcidChange:PROtoLEU MutationType:missense_variant;transition ClinVarID:182977 ClinVarID:Yes Mutation:Germline AssumedRefSeq:NM_000551.3 NonFamilial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    academic.oup.com/neurosurgery/article-abstract/56/6/1215/2744028
  46. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations
    1
    1. ClingenBaseline 28 Oct 2026
      231616N—Y17NNYYYc.74C>Tb; 256C>A

      PatientID: 23

      KindredID: 16

      Case: Sex Unknown, 17Y0M, Brazilian (Latino/Admixed American)

      DiseaseAssertion: VHL

      FamilyInfo: None

      CasePresentingHPOs: HP:0030405; HP:0010797; HP:0001737; HP:0009711 (pancreatic endocrine tumor, hemangioblastoma, pancreatic cyst, retinal capillary hemangioma)

      CaseHPOFreeText: The patient developed a 2.2 cm PNET at age 17. Patient was also recorded with all of the above manifestations

      CaseNotHPOs: HP:0002668, HP:0002666; HP:0005584; HP:0000107 (Paraganglioma, pheochromocytoma, renal cell carcinoma, renal cyst)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P86T (256C>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA351750624 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.256C%3EA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: P25L (c.74C>T) and P86T (c.256C>A)

      MultipleGeneVariants: Germline, VHL, c.74C>T (p.Pro25Leu)

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:pancreaticcysts DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:pancreaticendocrinetumor:17 Mutation:Germline AssumedRefSeq:NM_000551.3 CAID:CA351750624 ClinVarID:N/A MutationType:missense_variant;transversion ProteinPosition:86 cDNAposition:256 CivicName:P25L(c.74C>T)andP86T(c.256C>A) CivicName:P86T(c.256C>A) AminoAcidChange:PROtoTHR NoFamilyInfo Ethnicity:Brazilian Ethnicity:Latino/AdmixedAmerican MultipleVHLVariants inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6735756/
  47. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Family history of von Hippel–Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients
    1
    1. ClingenBaseline 28 Oct 2026

      PatientID: N/A

      KindredID: 2

      Case: F, 8Y0M, Chinese

      DiseaseAssertion: Asymptomatic

      FamilyInfo: Patient had no family history of VHL disease. Her parent had the same VHL mutation and presented with retinal capillary hemangioma, renal cell carcinoma, abnormality of the pancreas, and pheochromocytoma.

      CohortInfo: 16 Chinese patients clinically diagnosed with VHL disease.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0009711, HP:0002666, HP:0030393, HP:0010797, HP:0006770, HP:0001732 (retinal capillary hemangioma, pheochromocytoma, endolymphatic sac tumor, hemangioblastoma, clear cell renal cell carcinoma, abnormality of the pancreas)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: P86S (c.256C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:AF010238.1 Ethnicity:Chinese Familial DiseaseEntity:asymptomatic cDNAPosition:256 CivicName:P86S(c.256C>T) ProteinPosition:86 AminoAcidChange:PROtoSER ClinVarID:Yes ClinVarID:178692 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/22357542/
  48. journals.lww.com journals.lww.com
    Six weeks into the 2019 coronavirus disease (COVID-19)... : Chinese Medical Journal
    1
    1. ClingenBaseline 26 Oct 2026

      PatientID: None

      KindredID: 12

      Case: F, 20Y0M, Chinese

      DiseaseAssertion: asymptomatic

      FamilyInfo: Patient 12's 20 year old niece (this patient) was identified as a carrier of the same mutation as patient 12. Patient 12 was noted to not have a family history of VHL or other lesions associated with VHL disease.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: The 20-year-old niece of patient 12 was identified as a carrier of the same mutation by genetic screening (no evidence of VHL disease.)

      CaseNotHPOs:None

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: c.470C>T

      CaseProblemVariant Free Text: N/A

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

      CAID: CA020186

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_transition

      CivicName: P86L (c.257C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:257 DiseaseEntity:asymptomatic ProteinPosition:86 AminoAcidChange:PROtoLEU ClinVarID:182977 CAiD:CA020186 MutationType:missense_variant;transition CivicName:P86L(c.257C>T) Familial ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    journals.lww.com/cmj/fulltext/2011/01020/molecular_basis_of_von_hippel_lindau_syndrome_in.16.aspx
  49. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Patient-specific factors influence somatic variation patterns in von Hippel–Lindau disease renal tumours
    1
    1. ClingenBaseline 24 Oct 2026
      M22redMale22Pro86Arg1st R (2 subs R, no L)Former- <10 pack years33.46 (5*)No

      PatientID: None

      KindredID: 3

      Case: M, 22Y0M, Ethnicity Unknown

      DiseaseAssertion: Clear Cell Renal Cell Carcinoma

      FamilyInfo: N/A

      CohortInfo: The National Cancer Institute has a frozen tumour bank of ccRCC tumours that have been removed from VHL patients. We selected six patients, three males and three females, with at least five tumours from a single surgery from one kidney.

      CasePresentingHPOs: HP:0006770 (clear cell renal cell carcinoma)

      CaseHPOFreeText: One of the samples from this patient had few variants and clustered with the normal samples. Further inspection showed these samples were cyst-like rather than tumours, so they were excluded from further analysis. This suggests that the patient had renal cysts alongside ccRCC at age 22.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P86R(c.257C>G)

      LegacyVariant:N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223170 https://www.ncbi.nlm.nih.gov/clinvar/variation/223170/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: P86R(c.257C>G)

      MultipleGeneVariants: N/A

      MutationType:missense_variant;transversion InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:clearcellrenalcellcarcinoma AgeOfPresentation:clearcellrenalcellcarcinoma:22 NoFamilyInfo cDNAposition:257 ProteinPosition:86 AminoAcidChange:PROtoARG ClinVarID:223170 ClinVarID:Yes CivicName:P86R(c.257C>G) ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4869254/
  50. 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: 249

      KindredID: 249

      Case: Sex Unknown, 32Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: None.

      CasePresentingHPOs: HP:0006770, HP:0000107 (clear cell renal cell carcinoma, renal cyst)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0009711,HP:0010797, HP:0001737, HP:0002666 ( retinal capillary hemangioma, hemangioblastoma, pancreatic cyst, pheochromocytoma )

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table S1, S2, S3.

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: CA020186 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.257C%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86L(c.257C>T)

      MultipleGeneVariants: N/A

      RefSeq:NM_000551.3 InheritancePattern:AutosomalDominant AminoAcidChange:PROtoLEU CAID:CA020186 CivicName:P86L(c.257C>T) ClinVarID:182977 DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:renalcyst DiseaseEntity:VHL Mutation:Germline MutationType:missense_variant;transition SupplementalData cDNAposition:257 ProteinPosition:86 NonFamilial ClinVarID:Yes ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/21463266/
  51. Mar 2025
  52. usrussiarelations.org usrussiarelations.org
    1697: First Contact: The Russian Empire and America, 1698–1917
    1
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    usrussiarelations.org/2/timeline/the-soviet-period/30
  53. Nov 2023
  54. www.amazon.com www.amazon.com
    Word by Word: The Secret Life of... by Stamper, Kory
    1
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    amazon.com/Word-Secret-Life-Dictionaries/dp/110187094X
  55. theinformed.life theinformed.life
    Veronica Erb on Annotating Books
    1
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    theinformed.life/2022/04/24/episode-86-veronica-erb/
  56. en.wikipedia.org en.wikipedia.org
    Advanced chess - Wikipedia
    1
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    en.wikipedia.org/wiki/Advanced_chess
  57. Mar 2021
  58. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Functional characterization of 84 PALB2 variants of uncertain significance
    2
    1. shannon_mcnulty 18 Mar 2021
      Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).

      AssayResult: 0.8

      AssayResultAssertion: Abnormal

      StandardErrorMean: 0.13

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:86 CAID:CA269645 ClinVarID:126767 ValidationControl:Pathogenic
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    ncbi.nlm.nih.gov/pmc/articles/PMC7056643/