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  2. www.frontiersin.org www.frontiersin.org
    Frequent Mutations of VHL Gene and the Clinical Phenotypes in the Largest Chinese Cohort With Von Hippel–Lindau Disease
    1
    1. ClingenBaseline 26 Oct 2026
      c.263G > C p.Trp88Ser

      GroupID: 6B

      DiseaseAssertion: assumed VHL

      GroupSize: 9

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: Chinese

      GroupAgeRange: 33.8Y +/- 17.6Y

      GroupInfo: Clinical characteristics of 258 patients from 80 unrelated Chinese families were reported in this study. Grouped by the 21 mutations found, 3 families with 13 members total were described. it is unclear how many distinct families are reported in group 6B. 9 individuals were described. Phenotypic information was given for this mutation.

      GroupPresentingHPOs: HP:0010797; HP:0009711; HP:0005584; HP:0001737; HP:0009715 (hemangioblastoma, retinal capillary hemangioma, renal cell carcinoma, pancreatic cysts, papillary cystadenoma of the epididymis)

      GroupHPOFreeText: 7 of the 9 members presented with CNS hemangioblastoma (mean age of 29.9Y), 2/9 had retinal angiomas at 25Y and 35Y, 1 had renal cell carcinoma (at 30Y), pancreatic cysts in 2 members (with an age of onset of 30 and 31Y), and 1 member with a genital system tumor (epididymis or broad ligament) at 24Y

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: No patients were given with pheochromocytoma

      GroupPreviousTesting: N/A

      PreviouslyPublished: 29330336; 28388566

      SupplementalData: N/A

      Variant: p.W88S (c.263G>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2220, https://www.ncbi.nlm.nih.gov/clinvar/variation/2220/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: W88S (c.263G>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts DiseaseEntity:papillarycystadenomaoftheepididymis AgeOfPresentation:renalcellcarcinoma:30 AgeOfPresentation:papillarycystadenomaoftheepididymis:24 ClinVarID:2220 ClinVarID:Yes CivicName:W88S(c.263G>C) cDNAposition:263 ProteinPosition:88 AminoAcidChange:TRPtoSER MutationType:missense_variant;transversion Familial FamilyCohort AgeOfPresentation:pancreaticcysts:30 AgeOfPresentation:pancreaticcysts:31 AgeOfPresentation:retinalcapillaryhemangioma:25 AgeOfPresentation:retinalcapillaryhemangioma:35 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    frontiersin.org/articles/10.3389/fgene.2019.00867/full
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype-phenotype correlations in Chinese von Hippel–Lindau disease patients
    1
    1. ClingenBaseline 25 Oct 2026

      PatientID: 98

      KindredID: 33

      Case: M, 43Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The proband (patient 97) presented with a CNS hemangioblastoma at 37, retinal angioma at 20, and renal cell carcinoma and multiple pancreatic cysts/tumors at age 29. Their brother, patient 98, presented with a retinal angioma at age 32, and at age 43 presented with renal cell carcinoma and multiple pancreatic cysts/tumors.

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

      CaseHPOFreeText: The proband's brother, patient 98, presented with a retinal angioma at age 32, and at age 43 presented with renal cell carcinoma and multiple pancreatic cysts/tumors.

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

      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.P97Afs*35 (c.287_288insA)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA432420510, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.287_288insA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant

      CivicName: P97Afs*35 (c.287_288insA)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma DiseaseEntity:abnormalityofthepancreas DiseaseEntity:pancreaticcysts AgeOfPresentation:retinalcapillaryhemangioma:32 AgeOfPresentation:renalcellcarcinoma:43 AgeOfPresentation:pancreaticcysts:43 AgeOfPresentation:abnormalityofthepancreas:43 MutationType:plus_1_frameshift_variant ClinVarID:N/A CAID:CA432420510 cDNAposition:287 ProteinPosition:97 AminoAcidChange:PROtoALA CivicName:P97Afs*35(c.287_288insA) Familial SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5503545/
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Contribution of endosonography in an uncommon case of pancreatic cysts
    1
    1. ClingenBaseline 25 Oct 2026
      This case concerns a 35-year-old woman referred to our Gastroenterology Department with long-standing dyspepsia and pancreatic cysts detected by ultrasound examination. There were no other symptoms, such as abdominal pain, weight loss, visual or hearing changes, headache or urinary complaints. The past medical and family histories were not of significance. There were no abnormal findings on examination.The patient underwent an abdominal computed tomography (CT) scan (Figure ​(Figure1),1), which showed an enlargement of the pancreas, especially in the cephalic region, with heterogeneous density due to the presence of multiple hypodense nodules dispersed throughout the parenchyma. The majority of these lesions were small, but one larger contrast-enhancing lesion of 22 mm was present in the uncinate process.Open in a separate windowFigure 1Computed tomography abdominal scan. A: Small cystic lesions dispersed throughout the pancreas; B: The largest lesion.Given the findings of the CT scan, we performed an abdominal magnetic resonance imaging (MRI) (Figure ​(Figure2),2), which revealed several cysts that had a high signal intensity on T2 weighted images.Open in a separate windowFigure 2Magnetic resonance imaging. Cyst lesions are bright on T2-weighted images.The patient underwent endosonography that confirmed the presence of multiple simple cysts throughout the entirety of the pancreas. The majority of the cysts were less than 1 cm in diameter, but two cysts were larger than 1 cm. One of the larger cysts was 16 mm in diameter and was located at the isthmus-body transition. This cyst and did not communicate with the main pancreatic duct and was aspirated. The content had a serous appearance, and cytological analysis revealed amorphous material, few erythrocytes and inflammatory cells (Figure ​(Figure33).Open in a separate windowFigure 3Endosonography. A, B show a large cyst of 16 mm in diameter without communication or dilatation of the pancreatic duct; C: Demonstrates aspiration of the cyst; D: Demonstrates its appearance after total aspiration.The largest cyst was 23 mm in diameter and was located in the head of the pancreas. The cyst had a honeycomb appearance characteristic of serous cystadenomas (Figure ​(Figure4A).4A). The cytology did not show evidence of cellular atypia (Figure ​(Figure4B).4B). The carninoembryonic antigen was < 0.6 ng/dL, and the amylase in the cystic content was 135 U/L.Open in a separate windowFigure 4The largest cyst was 23 mm in diameter and was located in the head of the pancreas. A: Endosonography. Cyst with a honeycomb appearance; B: Cytology (papanicolaou stain, × 100). Benign pancreatic cysts.The endosonography also showed cysts in the left kidney and in the spleen (Figure ​(Figure5).5). The findings described were compatible with simple cysts and pancreatic serous cystadenomas and provided an indication for genetic testing for VHL. The sequencing of the VHL gene revealed one pathogenic heterozygous mutation in exon 1 (c.269A > T), confirming the diagnosis of VHL disease.Open in a separate windowFigure 5Endosonography. A: A cyst in the renal cortex; B: A cyst in the spleen.The patient underwent a MRI of the brain and entire spine and no hemangioblastomas were detected. The abdominal MRI scan excluded renal carcinoma. The plasma and urinary catecholamines and the urinary vanilmandelic acid were normal, excluding pheocromocytoma. The patient was also referred for examination of the retina and ear, nose and throat, including audiometry. There were no abnormal findings, which excluded angiomas of the retina and endolymphatic sac tumors, respectively.

      PatientID: None

      KindredID: 1

      Case: F, 35Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Her family was genetically tested, and the same mutation was found in her 7 year-old daughter. Assumed de novo.

      CasePresentingHPOs: HP:0410281; HP:0001737; HP:0005562; HP:0030423 (Dyspepsia, Pancreatic cysts, Multiple renal cysts, Splenic cyst)

      CaseHPOFreeText: Admitted with long-standing dyspepsia and pancreatic cysts detected by ultrasound examination. There were no other symptoms, such as abdominal pain, weight loss, visual or hearing changes, headache or urinary complaints. The past medical and family histories were not of significance. There were no abnormal findings on examination.CT scan showed an enlargement of the pancreas, especially in the cephalic region, with heterogeneous density due to the presence of multiple hypodense nodules dispersed throughout the parenchyma. Abdominal MRI revealed several cysts. Endosonography that confirmed the presence of multiple simple cysts throughout the entirety of the pancreas as well as cysts in the left kidney and in the spleen. The findings described were compatible with simple cysts and pancreatic serous cystadenomas.

      CaseNotHPOs: HP:0006880; HP:0009711; HP:0009713; HP:0005584; HP:0002666; HP:0030393 (Cerebellar hemangioblastoma, Retinal capillary hemangioma, Spinal hemangioblastoma, Renal cell carcinoma, Pheochromocytoma, Endolymphatic sac tumor)

      CaseNotHPOFreeText: MRI of the brain and entire spine and no hemangioblastomas were detected. Abdominal MRI scan excluded renal carcinoma.The plasma and urinary catecholamines and the urinary vanilmandelic acid were normal, excluding pheochromocytoma. Examination of the retina and ear, nose and throat, including audiometry excluded angiomas of the retina and endolymphatic sac tumors, respectively.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N90I (c.269A>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223172, https://www.ncbi.nlm.nih.gov/clinvar/variation/223172/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: N90I (c.269A>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:dyspepsia DiseaseEntity:pancreaticcysts DiseaseEntity:renalcyst DiseaseEntity:spleniccyst AgeOfPresentation:dyspepsia:35 AgeOfPresentation:pancreaticcysts:35 AgeOfPresentation:renalcyst:35 AgeOfPresentation:spleniccyst:35 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:269 ProteinPosition:90 AminoAcidChange:ASNtoILE ClinVarID:223172 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:N90I(c.269A>T) NonFamilial InheritancePattern:DeNovoAssertion inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC3797906/