19 Matching Annotations
  1. Last 7 days
  2. journals-scholarsportal-info.myaccess.library.utoronto.ca journals-scholarsportal-info.myaccess.library.utoronto.ca
    Genotype–phenotype analysis of von Hippel–Lindau syndrome in fifteen Indian families
    3
    1. ClingenBaseline 04 Nov 2026
      AD 9 38 F ? ? - - - - - c.340 ? 1 G[A p.G114D b

      PatientID: 9

      KindredID: AD

      Case: F, 38Y0M, Indian

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0001737 (Pancreatic cysts)

      CaseHPOFreeText: Multi-cystic pancreatic lesions.

      CaseNotHPOs: HP:0005584; HP:0002666; HP:0030393; HP:0009711; HP:0010797 (Renal cell carcinoma, Pheochromocytoma, Endolymphatic sac tumor, Retinal capillary hemangioma, Hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G114D (c.340+1G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223190, https://www.ncbi.nlm.nih.gov/clinvar/variation/223190/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant; missense_variant;transition

      CivicName: G114D (c.340+1G>A) and c.340+5G>C

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Indian DiseaseEntity:VHL DiseaseEntity:pancreaticcysts Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:114 AminoAcidChange:GLYtoASP ClinVarID:223190 ClinVarID:Yes MutationType:splice_site_variant MutationType:missense_variant;transition CivicName:G114D(c.340+1G>A)andc.340+5G>C Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 31 Oct 2026
      AD 8 34 F ? ? - - - - - c.340 ? 1 G[A p.G114D b

      PatientID: 8

      KindredID: AD

      Case: F, 34Y0M, Indian

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0001737 (Pancreatic cysts)

      CaseHPOFreeText: Multi-cystic pancreatic lesions.

      CaseNotHPOs: HP:0005584; HP:0002666; HP:0030393; HP:0009711; HP:0010797 (Renal cell carcinoma, Pheochromocytoma, Endolymphatic sac tumor, Retinal capillary hemangioma, Hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G114D (c.340+1G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223190, https://www.ncbi.nlm.nih.gov/clinvar/variation/223190/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant; missense_variant;transition

      CivicName: G114D (c.340+1G>A) and c.340+5G>C

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Indian DiseaseEntity:VHL DiseaseEntity:pancreaticcysts Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:114 AminoAcidChange:GLYtoASP ClinVarID:223190 ClinVarID:Yes MutationType:splice_site_variant MutationType:missense_variant;transition CivicName:G114D(c.340+1G>A)andc.340+5G>C Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    3. ClingenBaseline 30 Oct 2026
      AD 14 50 F ? ? ? - ? - - c.340 ? 1 G[A, (340 ? 5 G[C) p.G114D b

      PatientID: 14

      KindredID: AD

      Case: F, 50Y0M, Indian

      DiseaseAssertion: VHL

      FamilyInfo: N/A

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

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

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G114D (c.340+1G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223190, https://www.ncbi.nlm.nih.gov/clinvar/variation/223190/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant; missense_variant;transition

      CivicName: G114D (c.340+1G>A) and c.340+5G>C

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

      InheritancePattern:AutosomalDominant Ethnicity:Indian DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:114 AminoAcidChange:GLYtoASP ClinVarID:223190 ClinVarID:Yes MutationType:splice_site_variant MutationType:missense_variant;transition CivicName:G114D(c.340+1G>A)andc.340+5G>C Familial MultipleVHLVariants inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    journals-scholarsportal-info.myaccess.library.utoronto.ca/pdf/13899600/v14i0004/585_gaovhsifif.xml
  3. journals.lww.com journals.lww.com
    Pancreatic endocrine microadenomatosis in patients with von Hippel-Lindau disease: characterization by VHL/HIF pathway proteins expression
    2
    1. ClingenBaseline 04 Nov 2026
      The selected tissue blocks were cut in 3-μm sections and were immunolabeled with antibodies directed against chromogranine A (Dako, clone DAK-A3), HIF-1α (BD Biosciences, clone 54), HIF-2α (Abcam, clone ep190b), cyclin D1 (Dako, clone DCF-6), and CA9 (Novus Biological, polyclonal). Non-neoplastic pancreatic tissue was also immunolabeled with antibodies against insulin (Dako, polyclonal) and glucagon (Sigma, clone K79bB10) to differentiate endocrine microadenomas from normal islets. In addition, 5 different blocks with microadenomas obtained from 5 patients who presented at least 5 microadenomas were selected for an additional immunostaining with VEGF (Santa-Cruz Biotechnologies, polyclonal) and CD34 (Immunotech, QBEND10) for evaluation of microvessel surface.
      ExperimentalAssay ClinVarID:2218 ClinVarID:2222 CAID:CA658795182 ClinVarID:496064 ClinVarID:193118 CAID:CA351756196 ClinVarID:526679 ClinVarID:420074 ClinVarID:178692 ClinVarID:182979 ClinVarID:223190 ClinVarID:182974 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 30 Oct 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: 3

      KindredID: 3

      Case: F, 34Y0M, 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: c.340+1G>A

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 223190 https://www.ncbi.nlm.nih.gov/clinvar/variation/223190/

      CAID: CA357042 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.340%2B1G%3EA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: c.340+1G>A

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:c.340+1G>A cDNAposition:340 CAID:CA357042 ClinVarID:223190 MutationType:splice_site_variant 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
  4. erc.bioscientifica.com erc.bioscientifica.com
    Calculating optimal surveillance for detection of von Hippel–Lindau-related manifestations
    1
    1. ClingenBaseline 04 Nov 2026
      c.340+1G>A

      Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. One patient was found with this splice varaint in the VHL gene. The patient was 32Y at the last follow-up and presented with: retinal hemangioblastoma, cerebellar hemangioblastoma, spinal cord hemangioblastoma, renal cell carcinoma, renal cysts and pancreatic cysts. Family history was not described. This cohort was published later in PMID 31087189.

      EvidenceStatement ClinVarID:223190 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    erc.bioscientifica.com/view/journals/erc/21/1/63.xml
  5. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions
    1
    1. ClingenBaseline 03 Nov 2026

      PatientID: 5800

      KindredID: 283

      Case: Sex Unknown, Age Unknown, French

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: 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.

      CasePresentingHPOs: HP:0005584 (Renal cell carcinoma)

      CaseHPOFreeText: Moderate renal disease (less than five solid lesions requiring surgical treatment, either unilateral or bilateral). Individual RCC phenotype is noted as positive.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: Paper states that this family is previously reported in PMID 12202531 and/or 9829912, where 1 individual with this mutation is reported in each. It is unclear if one or both of these previously reported individuals correspond to the current individual.

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

      Variant: c.340+1G>A

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223190, https://www.ncbi.nlm.nih.gov/clinvar/variation/223190/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant; missense_variant;transition

      CivicName: Splice Site (c.340+1G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:French DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma Mutation:Germline RefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:223190 ClinVarID:Yes MutationType:splice_site_variant MutationType:missense_variant;transition CivicName:SpliceSite(c.340+1G>A) NoFamilyInfo SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/15300849/
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The incidence of consecutive manifestations in Von Hippel-Lindau disease
    2
    1. ClingenBaseline 03 Nov 2026
      c.340 + 1G > A1 (1%)132HBr, HBc, HBsc, RCC, Cr, Cp

      PatientID: None

      KindredID: 7

      Case: Sex Unknown, 32Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: All VHL mutation carriers of 18 years or older who underwent surveillance according to Dutch VHL guidelines between 1972 and 2012 in the VHL expertise centers University Medical Center Groningen (UMCG) and University Medical Center Utrecht (UMCU) were included. Patients with VHL-disease subtype 2C (pheochromocytoma only) were excluded.

      CasePresentingHPOs: HP:0009711; HP:0006880; HP:0009713; HP:0005584; HP:0000107; HP:0001737 (Retinal capillary hemangioma, Cerebellar hemangioblastoma, Spinal hemangioblastoma, Renal cell carcinoma, Renal cyst, Pancreatic cysts)

      CaseHPOFreeText: VHL Type 1.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 24132471

      SupplementalData: Table 1

      Variant: c.340+1G>A

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223190, https://www.ncbi.nlm.nih.gov/clinvar/variation/223190/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: Splice Site (c.340+1G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts DiseaseEntity:renalcyst Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:223190 ClinVarID:Yes MutationType:splice_site_variant CivicName:SpliceSite(c.340+1G>A) NoFamilyInfo SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 01 Nov 2026
      c.340 + 1G > A

      All patients included in the study were VHL mutation carriers of 18 years or older examined between 1972 and 2012 in the VHL expertise centers University Medical Center Groningen (UMCG) and University Medical Center Utrecht (UMCU). Clinical data of 75 VHL mutation carriers were retrospectively retrieved from electronic and written patient record. Of these patients, one was found to harbour the c.340+1G>A germline mutation of the VHL gene. They presented with a retinal hemangioblastoma, cerebellar hemangioblastoma, spinal hemangioblastoma, renal cell carcinoma, renal cyst and pancreatic cysts. Their age at the last follow-up was 32. Previously published in: PMID 24132471.

      EvidenceStatement ClinVarID:223190 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6560011/
  7. www.cancerjournal.net www.cancerjournal.net
    Adrenal adenoma in von Hippel–Lindau syndrome: A case report with review of literature
    1
    1. ClingenBaseline 31 Oct 2026
      A 29-year-old hypertensive male with genetic proven VHL syndrome came to the Endocrinology department for evaluation. There was neither any history of paroxysm of sweating or palpitation nor any stigmata of hypercortisolism. He had undergone surgery for cervical (C2–C3) hemangioblastoma 2 years back. His elder sister also had features suggestive of Type 1 VHL syndrome (cerebellar hemangioblastomas, RCC of the left kidney, bilateral renal cysts, and pancreatic serous cystic neoplasm). However, her adrenal glands were normal. None of the other family members have features suggestive of VHL syndrome.Noncontrast computed tomography of the abdomen of our patient revealed a well-defined hypodense (<10 Hounsfield Unit) lesion of 3.2 cm × 3 cm in the left adrenal gland having central necrosis. There was more than 50% washout in postcontrast delayed image suggestive of adrenal adenoma [Figure 1]. In bilateral kidneys, there were multiple hypodense lesions with intense enhancement (RCC) along with nonenhancing cystic areas (renal cysts). Pancreas also showed multiple well-defined fluid attenuating cysts. On hormonal evaluation, plasma-free metanephrine (51.1 pg/ml; Normal < 65 pg/ml) and free normetanephrine (87.3 pg/ml; Normal < 180 pg/ml) levels were within normal limits. Serum dehydroepiandrosterone sulfate (267 μg/dl; Normal 167–591 μg/dl) and electrolytes were also normal. Normal values of 8 am serum cortisol (16.89 μg/dl), midnight awake cortisol (1.96 μg/dl) and overnight 1 mg dexamethasone suppression test (0.81 μg/dl) ruled out the possibility of endogenous hypercortisolism. Although biochemically there was no evidence of pheochromocytoma, metaiodobenzylguanidine (MIBG) scintigraphy was done on high suspicion of it for an adrenal mass in an established case of VHL. However, MIBG scan failed to show any abnormal tracer uptake in the abdomen.Figure 1: Computed tomography scan of adrenal adenoma. (a) Plain computed tomography abdomen showing homogenous, well defined left adrenal mass. (b) Early postcontrast image showing peripheral enhancement of the left adrenal mass. (c) Delayed postcontrast image showing more than 50% washout of contrastClick here to viewThen, the patient underwent left-sided adrenalectomy after controlling hypertension. On gross examination of the adrenal mass, an encapsulated gray-brown lesion measuring 3 cm × 3 cm × 3 cm in size with areas of hemorrhage was found. On microscopic examination, the tumor cells with clear cytoplasm were arranged in a nesting pattern [Figure 2]a. There was no significant atypia of the tumor cells and mitotic figures were also absent. On immunohistochemistry, the tumor cells were positive for Inhibin and Melan A [Figure 2]b and [Figure 2]c and negative for synaptophysin, thereby confirming adrenocortical adenoma and excluding pheochromocytoma. The adjacent adrenal gland was normal. For the largest focus of RCC, right-sided partial nephrectomy was done 3 months later. On histopathological examination, the tumor was circumscribed and measured 4 cm × 3 cm × 2 cm in dimensions. The cut section showed areas of hemorrhage and congestion without any areas of necrosis. On microscopy, the tumor had a sharp demarcation from normal parenchyma and the renal capsule without any evidence of infiltration [Figure 3]a. The tumor cells had minimal atypia, abundant clear/vacuolated cytoplasm, low nuclear grade, and rare mitosis. The morphological features were compatible with the clear cell type of RCC [Figure 3]b.Figure 2: Histopathology of adrenal tumor. (a) H and E stain (×200) of adrenal tumor showing tumor cells with clear cytoplasm arranged in a nesting pattern. (b) Immunohistochemistry of Melan A (×100) of adrenal tumor showing diffuse cytoplasmic positivity in tumor cells. (c) Immunohistochemistry of Inhibin (×100) of adrenal tumor showing strong cytoplasmic positivity in tumor cellsClick here to viewFigure 3: Histopathology of renal tumor. (a) The low magnification image (H and E stain ×100) of renal tumor shows the sharp demarcation between the tumor (left side) and adjacent normal renal parenchyma (right side). (b) The high magnification image (H and E ×400) of renal tumor shows the tumor cells with clear cytoplasm, low nuclear grade, intricate capillary network and lakes of red blood cellsClick here to viewGenetic analysis of VHL gene in this patient revealed a heterogeneous 5' splice site variation of intron 1 of the VHL gene that affects splice site of exon 1 (c. 340 + 1G > A). This mutation was pathogenic for VHL syndrome and previously reported in a few cases.[4],[5],[6]

      PatientID: None

      KindredID: 1

      Case: M, 29Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: His elder sister also had features suggestive of Type 1 VHL syndrome (cerebellar hemangioblastomas, RCC of the left kidney, bilateral renal cysts, and pancreatic serous cystic neoplasm). However, her adrenal glands were normal. None of the other family members have features suggestive of VHL syndrome.

      CasePresentingHPOs: HP:0009713; HP:0000822; HP:0006770; HP:0005562; HP:0001737; HP:0008256 (Spinal Hemangioblastoma, Hypertension, Clear cell renal cell carcinoma, Multiple renal cysts, Pancreatic cysts, Adrenocortical adenoma)

      CaseHPOFreeText: CT of the abdomen revealed a lesion in the left adrenal gland having central necrosis. There was more than 50% washout in postcontrast delayed image suggestive of adrenal adenoma (later confirmed by immunohistochemistry to be an adrenocortical adenoma). In bilateral kidneys, there were multiple lesions with intense enhancement (RCC - morphological features were compatible with the clear cell type of RCC) along with nonenhancing cystic areas (renal cysts). Pancreas also showed multiple well-defined fluid attenuating cysts.

      CaseNotHPOs: HP:000266; HP:0001962; HP:0003118; HP:0001069 (Pheochromocytoma, Palpitations, Increased circulating cortisol level, Episodic hyperhidrosis)

      CaseNotHPOFreeText: No history of paroxysm of sweating or palpitation nor any stigmata of hypercortisolism. Immunochemistry excluded the possibility of the adrenal lesion being pheochromocytoma.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.340+1G>A

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223190, https://www.ncbi.nlm.nih.gov/clinvar/variation/223190/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: Splice Site (c.340+1G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:multiplerenalcysts DiseaseEntity:pancreaticcysts DiseaseEntity:hypertension DiseaseEntity:adrenocorticaladenoma AgeOfPresentation:clearcellrenalcellcarcinoma:29 AgeOfPresentation:pancreaticcysts:29 AgeOfPresentation:multiplerenalcysts:29 AgeOfPresentation:hypertension:29 AgeOfPresentation:adrenocorticaladenoma:29 Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:223190 ClinVarID:Yes MutationType:splice_site_variant CivicName:SpliceSite(c.340+1G>A) Familial cDNAposition:N/A inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    cancerjournal.net/article.asp
  8. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma
    1
    1. ClingenBaseline 29 Oct 2026

      Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. Blood samples were isolated and sequenced by direct sequencing using prism-ready reaction dye primer cycle sequencing kits (Applied Biosystem Roissy CDG France) and an ABI 373A automated sequencer (AppliedBiosystem Roissy CDG France). No variants were found in 96 control cases. This splice site mutation, c.340+1G>A (stated as IVS1+1G→A in the paper), was found in a VHL type 2B patient (no. V283). Type 2B VHL families are described as having pheochromocytoma and presence of renal and pancreatic manifestations. No family information was provided.

      EvidenceStatement ClinVarID:223190 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/9829912/
  9. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Endolymphatic sac tumor with von Hippel-Lindau disease: report of a case with analysis of von Hippel-Lindau gene and review
    1
    1. ClingenBaseline 29 Oct 2026
      Herein, we reported a case of ELST with VHL gene analysis who presented with a family history of VHL disease. The radiologic, histologic, and immunohistochemical features of the tumor were typical of ELST.

      PatientID: 1 (case)

      KindredID: 1

      Case: F, 33Y0M, Ethnicity Unknown

      DiseaseAssertion: endolymphatic sac tumor

      FamilyInfo: Her mother and elder sister had history of resection of cerebellar hemangioblastomas, although no genetic testing was done for them.

      CasePresentingHPOs: HP:0030393 (endolymphatic sac tumor)

      CaseHPOFreeText: Woman had progressive hearing disturbance, vertigo, and headache since 32Y. MRI revealed a 4.5 × 3.8 × 3.5-cm mass was detected in the right cerebellopontine angle, destroying the cerebellum. CT with a bone window mode demonstrated extensive destruction of the petrous bone and middle ear structures (endolymphatic sac tumor). The patient underwent craniotomy for a complete removal of the tumor. To date of publication, the patient remains well, with no evidence of recurrent tumor.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.340+1G>A

      LegacyVariant: 553 + 1G→A, designated as IVS1 + 1G→A mutation

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223190 https://www.ncbi.nlm.nih.gov/clinvar/variation/223190/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: No LOH was found in this sample

      MutationType: splice_site_variant

      CivicName: Splice site (c.340+1G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:endolymphaticsactumor Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:340 CivicName:SpliceSite(c.340+1G>A) MutationType:splice_site_variant ClinVarID:223190 ClinVarID:Yes Familial AgeOfPresentation:endolymphaticsactumor:32 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/20850701/
  10. Oct 2026
  11. jnnp.bmj.com jnnp.bmj.com
    The impact of molecular genetic analysis of theVHL gene in patients with haemangioblastomas of the central nervous system
    2
    1. ClingenBaseline 28 Oct 2026
      nt 553+1 G/A* splice defect 553+1 G/A Splice defect 1

      A cohort of 141 patients with hemangioblastomas of the central nervous system was analyzed. 81 patients had germline mutations in the VHL gene, analyzed through peripheral blood by Southern blotting and SSCP analysis. This splice site mutation (c.340+1G>A) was recorded in the paper as c.553+1G>A due to a difference in transcript sequence. It was found in 1 patient with a hemangioblastoma of the central nervous system. Any family information is unknown. No other phenotypes described.

      ClinVarID:223190 EvidenceStatement inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 27 Oct 2026
      nt 553+1 G/A* splice defect 553+1 G/A Splice defect 1

      PatientID: 18

      GroupID/ KindredID: 18

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: other phenotypes unknown.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.340+1G>A

      LegacyVariant: c.553+1G>A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223190 http://www.ncbi.nlm.nih.gov/clinvar/variation/223190

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: Splice Site (c.340+1G>A)

      MultipleGeneVariants: N/A

      DiseaseEntity:hemangioblastoma NoFamilyInfo Mutation:Germline ClinVarID:Yes ClinVarID:223190 AssumedRefSeq:AF010238.1 CivicName:SpliceSite(c.340+1G>A) cDNAposition:340 MutationType:splice_site_variant inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    jnnp.bmj.com/content/jnnp/67/6/758.full.pdf
  12. hccpjournal.biomedcentral.com hccpjournal.biomedcentral.com
    Mutations in the von hippel-lindau tumour suppressor gene in central nervous system hemangioblastomas
    2
    1. ClingenBaseline 28 Oct 2026
      IVS1+1G>A Splice Germline mutation

      Tissues embedded in paraffin blocks were collected from 203 cHAB patients operated in different Medical Centres in Poland. Eight of these harboured germline mutations in unrelated patients from distinct undiagnosed VHL families. Various variants were unverified as somatic or germline as they were detected in tumour but blood samples were not tested. Other phenotypes and demographic information is not known. Patient 37 was found with a splice mutation in the VHL gene.

      ClinVarID:223190 EvidenceStatement inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 22 Oct 2026
      IVS1+1G>A Splice Germline mutation

      PatientID: 37

      KindredID: 37

      Case: Age, sex, ethnicity unknown

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.340+1G>A

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 223190 https://www.ncbi.nlm.nih.gov/clinvar/variation/223190/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: Splice Site (c.340+1G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant AssumedRefSeq:NM_000551.3 Mutation:Germline DiseaseEntity:hemangioblastoma ClinVarID:223190 ClinVarID:Yes MutationType:splice_site_variant CivicName:SpliceSite(c.340+1G>A) cDNAposition:340 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    hccpjournal.biomedcentral.com/article/10.1186/1897-4287-2-2-93/tables/1
  13. journals.lww.com journals.lww.com
    Endocrine Pancreatic Tumors in von Hippel-Lindau Disease:... : Pancreas
    1
    1. ClingenBaseline 27 Oct 2026
      3 splice site mutations

      Among patients prospectively followed by the members of the French VHL Study Group, 35 consecutive patients with well-documented endocrine pancreatic tumour (20 women and 15 men; median age,37 [21Y-57] years) were included. The data from 7 patients with EPT have been partially reported previously in Hammel et al., 1995;2000. All 35 patients had VHL germline mutations and were assessed for the presence of pheochromocytoma and renal carcinome in addition to pancreatic tumours. The presence of other phenotypes was not described. A germline splice mutation (c.340+1G>A) was found in patient no 23 from family 582. The patient presented with pancreatic endocrine tumour and renal carcinoma. The patient's phenotypes are highly specific to VHL disease (PP4) and a splice alternation may be supportive of PVS1.

      ClinVarID:223190 EvidenceStatement 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. journals-scholarsportal-info.myaccess.library.utoronto.ca journals-scholarsportal-info.myaccess.library.utoronto.ca
    Genotype–phenotype analysis of von Hippel–Lindau syndrome in fifteen Indian families
    2
    1. ClingenBaseline 25 Oct 2026
      AD 7 27 M ? ? - - - - - c.340 ? 1 G[A p.G114D b

      PatientID: 7

      KindredID: AD

      Case: M, 27Y0M, Indian

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0001737 (Pancreatic cysts)

      CaseHPOFreeText: Multi-cystic pancreatic lesions.

      CaseNotHPOs: HP:0005584; HP:0002666; HP:0030393; HP:0009711; HP:0010797 (Renal cell carcinoma, Pheochromocytoma, Endolymphatic sac tumor, Retinal capillary hemangioma, Hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G114D (c.340+1G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223190, https://www.ncbi.nlm.nih.gov/clinvar/variation/223190/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant; missense_variant;transition

      CivicName: G114D (c.340+1G>A) and c.340+5G>C

      MultipleGeneVariants: N/A

      Ethnicity:Indian InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pancreaticcysts Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:114 AminoAcidChange:GLYtoASP ClinVarID:223190 ClinVarID:Yes MutationType:splice_site_variant MutationType:missense_variant;transition CivicName:G114D(c.340+1G>A)andc.340+5G>C Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 24 Oct 2026
      AD 13 50 M ? ? - - ? - - c.340 ? 1 G[A p.G114D b

      PatientID: 13

      KindredID: AD

      Case: M, 50Y0M, Indian

      DiseaseAssertion: VHL

      FamilyInfo: N/A

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

      CaseHPOFreeText: Multi-cystic pancreatic lesions, RCC.

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G114D (c.340+1G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223190, https://www.ncbi.nlm.nih.gov/clinvar/variation/223190/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant; missense_variant;transition

      CivicName: G114D (c.340+1G>A) and c.340+5G>C

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Indian DiseaseEntity:VHL DiseaseEntity:pancreaticcysts DiseaseEntity:renalcellcarcinoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:114 AminoAcidChange:GLYtoASP ClinVarID:223190 ClinVarID:Yes MutationType:splice_site_variant MutationType:missense_variant;transition CivicName:G114D(c.340+1G>A)andc.340+5G>C Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    journals-scholarsportal-info.myaccess.library.utoronto.ca/pdf/13899600/v14i0004/585_gaovhsifif.xml