13 Matching Annotations
  1. Last 7 days
  2. 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/
  3. journals.lww.com journals.lww.com
    Endocrine Pancreatic Tumors in von Hippel-Lindau Disease:... : Pancreas
    2
    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
    2. 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
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease
    1
    1. ClingenBaseline 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/
  5. 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
  6. 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
  7. 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
  8. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Germline mutations in the VHL gene associated with 3 different renal lesions in a Chinese von Hippel-Lindau disease family
    1
    1. ClingenBaseline 01 Nov 2026
      A 42-year-old man was admitted to our Urology unit with a one-year history of repeating left lumbago. Ten years ago, this patient received gamma knife treatment for cerebral hemangioblastomas. There was no history of hypertension disease (blood pressure at admission: 134/79mmHg). Eyesight and fundus examinations were normal.Prior to the operation, levels of blood creatinine and urea nitrogen were normal (82 μmol/L and 6.05 mmol/L, respectively). However, the routine urine test showed an elevated level of RBCs with 9,298 cells per liter. Common tumor markers such as AFP, CEA, and PSA were normal. Magnetic resonance (MR) of the abdomen showed multiple solid lesions in the bilateral kidneys (53 mm was the largest diameter) with enhanced density after contrast, multilocular renal cysts, a right adrenal nodule, multiple cysts and a solid lesion in the pancreas (42.7 mm was the largest diameter), and multiple cysts in the liver with 2 highly vascular lesions located in the S7/8 and S2 sections (Fig. 1A and 1B). Special tests for adrenal lesions included plasma cortisol, renin angiotensin aldosterone, and urinary VMA, which were normal. The patient underwent 3 consecutive surgeries. The first surgery was partial nephrectomy that removed most of the tumors in the right kidney. Three weeks later, the second surgery removed most of the tumors on the surface of the left kidney, and radiofrequency ablation guided by ultrasound aided in treating the inner tumors. Two weeks after the second surgery, the patient received an emergency nephrectomy on the left side kidney due to a severe hemorrhage. Open in a separate windowFigure 1.Imaging findings of 2 patients. (A) and (B) Abdomen magnetic resonance (MR) of the brother (II:1) showed a solid lesion (1) and multiple cysts (2) in the pancreas; liver vascular lesion located in the S7/8 section (3); solid lesions (4) and multilocular renal cysts (5) in the kidney; and a right adrenal nodule (6). (C) Scrotum magnetic resonance (MR) of the brother (II:1) showed a malignant tumor in the right side epididymis (arrow). (D) Abdomen computed tomography (CT) of the sister (II:6) showed multiple cysts in the pancreas (7) and a right adrenal nodule (8).Pathologic reviews and an immunohistochemical test (IHC) were performed to confirm the diagnosis. Tumor sections from the right side kidney stained with hematoxylin and eosin (H&E) showed sheet-like, solid clear cells in the tumor lesions and cysts lined by clear cells with uniform nuclei in some areas (Fig. 2A and 2B). The pathological manifestations confirmed ccRCC concurrent with simple renal cysts. The left side kidney showed multilocular cysts lined by clear cells with plenty of plasm and high nuclear to cytoplasmic ratios by microscopy. Clusters of clear cells were present in the septal walls (Fig. 2C), and mcRCC was confirmed pathologically. The IHC staining of the bilateral kidney tumor was positive for CD10, CK and Vim (data not shown). Open in a separate windowFigure 2.Pathological images of the brother. (A) Clear cell renal cell carcinoma (ccRCC) from the right kidney. The tumor consists of sheet-like, solid clear cells (H&E 40×).The image in the yellow-boxed area displays part (B). Multilocular renal cysts with clear cell renal carcinoma from the right kidney. The yellow-boxed area displays a renal cyst that is lined by a single-layer of clear cells with uniform nuclei (H&E 100×). Additionally, the green-boxed area displays part of the ccRCC with sheet-like, solid clear cells. (C) Cystic renal cell carcinoma from the left kidney. Cysts are lined by clear cells with uniform nuclei. Clusters of clear cells are present in the septal walls (H&E 40×). The image in the yellow-boxed area displays the aggregates of similar-appearing clear cells scattered without permeating the septa and forming solid nodules (H&E 100×).During this patient's hospitalization, a mass was palpable in his right side scrotum, which had no tenderness, redness or itching. The scrotum MR suspected a malignant tumor on the right side epididymis (Fig. 1C). However, the patient refused to accept a biopsy of this mass.

      PatientID: II:1 (proband)

      KindredID: 1

      Case: M, 42Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The proband presented with VHL Type 2B. Sister presented with features of VHL Type 2A including cerebral hemangioblastomas, a right adrenal nodule, multiple cysts in the pancreas, multiple cysts in the liver, two brain lesions. The younger brother and their deceased father had hemangioblastomas in the central nervous system and ocular diseases, respectively. Despite having no information of detailed clinical data, it is reasonable to assume that they had VHL diseases. The father was also blind, but the reasons are unknown. The mother had no history of disease. Pedigree: see Figure 3.

      CasePresentingHPOs: HP:0010797; HP:0005584; HP:0006770; HP:0030421 (Hemangioblastoma, Renal cell carcinoma, Clear cell renal cell carcinoma, Epididymal neoplasm)

      CaseHPOFreeText: Ten years prior (at the age of 32), the patient received gamma knife treatment for cerebral hemangioblastomas. Magnetic resonance (MR) of the abdomen showed multiple solid lesions in the bilateral kidneys, multilocular renal cysts, a right adrenal nodule, multiple cysts and a solid lesion in the pancreas, and multiple cysts in the liver. The pathological manifestations confirmed ccRCC concurrent with simple renal cysts. The left side kidney showed multilocular cysts lined by clear cells. Pathology confirmed the presence of clusters of clear cells. mcRCC was confirmed pathologically. Scrotum MR suspected a malignant tumor on the right side epididymis.

      CaseNotHPOs: HP:0000822; HP:0100631 (Hypertension, Neoplasm of the adrenal gland)

      CaseNotHPOFreeText: No history of hypertension disease. Common tumor markers such as AFP, CEA, and PSA were normal. Special tests for adrenal lesions included plasma cortisol, renin angiotensin aldosterone, and urinary VMA, which were normal.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.340+5G>C

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 36901, https://www.ncbi.nlm.nih.gov/clinvar/variation/36901/

      CAID: CA020288, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA020288

      gnomAD: 0.01119, https://gnomad.broadinstitute.org/variant/3-10183876-G-C

      VariantEvidence: Direct sequencing of DNA strands revealed 2 recurrent mutations of c.256C > T (p.P86S) and c.340 + 5G > C. Haplotype construction displayed that the c.256C > T (p.P86S) mutation in cis with c.340 + 5G > C were located on the disease haplotype. Bioinformatics analysis revealed that this mutation might severely destabilize the hydrophobic core of pVHL and cause VHL manifestations. This variant’s large allele frequency means this is likely non disease causing (not deleterious).

      MutationType: splice_site_variant

      CivicName: P86S (c.256C>T) and Splice Region (c.340+5G>C)

      MultipleGeneVariants: Germline, VHL, c.256C>T (p.Pro86Ser)

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:epididymalneoplasm DiseaseEntity:hemangioblastoma AgeOfPresentation:hemangioblastoma:32 AgeOfPresentation:renalcellcarcinoma:42 AgeOfPresentation:epididymalneoplasm:42 AgeOfPresentation:clearcellrenalcellcarcinoma:42 Mutation:Germline RefSeq:NM_000551 AssumedRefSeq:NM_000551.3 ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:36901 ClinVarID:Yes CAID:CA020288 MultipleVHLVariants MutationType:splice_site_variant CivicName:P86S(c.256C>T)andSpliceRegion(c.340+5G>C) FamilyPedigree Familial cDNAposition:N/A CompoundHeterozygous inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4990403/
  9. 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 31 Oct 2026

      PatientID: 46

      KindredID: 46

      Case: Sex Unknown, Age Unknown, Japanese

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0005584 (Renal cell carcinoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0009711; HP:0002666; HP:0010797 (Retinal capillary hemangioma, Pheochromocytoma, Hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 10761708

      SupplementalData: N/A

      Variant: p.L118P (c.353T>C)

      LegacyVariant: p.L189P (c.566T>C)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428807, https://www.ncbi.nlm.nih.gov/clinvar/variation/428807/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Nucleotide deletion (i.e. 566T>C) coincides with legacy variant nomenclature (i.e. AF010238.1) and was mapped to c.353T>C (NM_000551.3).

      MutationType: missense_variant;transition

      CivicName: L118P (c.353T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Japanese DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:353 ProteinPosition:118 AminoAcidChange:LEUtoPRO ClinVarID:428807 ClinVarID:Yes MutationType:missense_variant;transition CivicName:P86S(c.256C>T) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/8634692/
  10. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular Characterization of a Novel Germline VHL Mutation by Extensive In Silico Analysis in an Indian Family with Von Hippel-Lindau Disease
    1
    1. ClingenBaseline 30 Oct 2026
      another affected relative [III-A, in the pedigree]

      PatientID: III-A

      KindredID: 1

      Case: M, 30Y0M, EthnicityUnknown

      DiseaseAssertion: VHL

      FamilyInfo: Multiple first- and second-degree relatives affected with similar phenotypes. Of these, he is genetically tested and found to share VHL mutations with his uncle (proband).

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Paper asserts that this individual presented with VHL phenotypes but does not specify which.

      CaseNotHPOs: NA

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Information obtained from Figure 1

      Variant: p.L158Q (c.473T>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 376048, https://www.ncbi.nlm.nih.gov/clinvar/variation/376048/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: P86S (c.256C>T) and Splice Region (c.340+5G>C)

      MultipleGeneVariants: Germline, VHL, c.340+5G>C

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline RefSeq:NM_000551 AssumedRefSeq:NM_000551.3 cDNAposition:473 ProteinPosition:158 AminoAcidChange:LEUtoGLN ClinVarID:376048 ClinVarID:Yes MultipleVHLVariants MutationType:missense_variant;transversion PreviousTesting: N/A FamilyPedigree Familial SupplementalData CivicName:P86S(c.256C>T)andSpliceRegion(c.340+5G>C) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4812357/
  11. 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
  12. Oct 2026
  13. 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
  14. 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/