45 Matching Annotations
  1. Last 7 days
  2. www.endocrinepractice.org www.endocrinepractice.org
    VHL-Related Neuroendocrine Neoplasms And Beyond: An Israeli Specialized Center Real-Life Report
    8
    1. ClingenBaseline 26 Oct 2026
      In 1996, we described a 3 generation VHL 2A kindred with 11 mutation carriers. We aim to share our experience regarding the long-term follow-up of this family

      PatientID: 21

      KindredID: 1

      Case: F, 23Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: This patient was a member of family 1, where 14/32 total patients were diagnosed with VHL. One of which (I-32) was a mutational carrier with down syndrome. The other 13 patients had varying phenotypes, including adrenal pheochromocytoma, pancreatic endocrine tumors, liver and bone metastases, paraganglioma, cerebellar, spinal, and retinal hemangioblastomas, polycythemia, and chondrosarcoma. See Fig. 1 for family pedigree.

      CasePresentingHPOs: HP:0006748; HP:0009711 (adrenal pheochromocytoma; retinal capillary hemangioma)

      CaseHPOFreeText: Patient presented with his initial VHL-related clinical manifestations at 11Y0M. She had adrenal pheochromocytoma and retinal capillary hemangioma. She was diagnosed with VHL subtype 2A(see table 1).

      CaseNotHPOs: HP:0002668 (paraganglioma)

      CaseNotHPOFreeText: Patient does not have paraganglioma.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V166F (c.496G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2224, https://www.ncbi.nlm.nih.gov/clinvar/variation/2224/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: V166F (c.496G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transversion DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:retinalcapillaryhemangioma CivicName:V166F(c.496G>T) cDNAPosition:496 ProteinPosition:166 AminoAcidChange:VALtoPHE RefSeq:NM_000551.3 Familial FamilyPedigree ClinVarID:2224 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 26 Oct 2026
      In 1996, we described a 3 generation VHL 2A kindred with 11 mutation carriers. We aim to share our experience regarding the long-term follow-up of this family

      PatientID: 3

      KindredID: 1

      Case: M, 55Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: This patient was a member of family 1, where 14/32 total patients were diagnosed with VHL. One of which (I-32) was a mutational carrier with down syndrome. The other 13 patients had varying phenotypes, including adrenal pheochromocytoma, pancreatic endocrine tumors, liver and bone metastases, paraganglioma, cerebellar, spinal, and retinal hemangioblastomas, polycythemia, and chondrosarcoma. See Fig. 1 for family pedigree.

      CasePresentingHPOs: HP:0006748; HP:0002668; HP:0030405; HP:0009713; HP:0006880; HP:0001901 (adrenal pheochromocytoma; paraganglioma; pancreatic endocrine tumor; spinal hemagnioblastoma, cerebellar hemagnioblastoma; polycythemia)

      CaseHPOFreeText: Patient presented with his initial VHL-related clinical manifestations at 7Y0M. He was found to have adrenal pheochromocytoma; paraganglioma, pancreatic endocrine tumor, spinal and cerebellar hemagnioblastoma, and polycythemia (see table 1). Patient was diagnosed with VHL subtype 2A at 54Y0M.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 8550742

      SupplementalData: N/A

      Variant: p.V166F (c.496G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2224, https://www.ncbi.nlm.nih.gov/clinvar/variation/2224/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: V166F (c.496G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transversion DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:paraganglioma DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:spinalhemangioblastoma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:polycythemia CivicName:V166F(c.496G>T) cDNAPosition:496 ProteinPosition:166 AminoAcidChange:VALtoPHE RefSeq:NM_000551.3 ClinVarID:2224 ClinVarID:Yes Familial AgeOfPresentation:VHL:7 FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    3. ClingenBaseline 23 Oct 2026
      In 1996, we described a 3 generation VHL 2A kindred with 11 mutation carriers. We aim to share our experience regarding the long-term follow-up of this family

      PatientID: 26

      KindredID: 1

      Case: M, 16Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: This patient was a member of family 1, where 14/32 total patients were diagnosed with VHL. One of which (I-32) was a mutational carrier with down syndrome. The other 13 patients had varying phenotypes, including adrenal pheochromocytoma, pancreatic endocrine tumors, liver and bone metastases, paraganglioma, cerebellar, spinal, and retinal hemangioblastomas, polycythemia, and chondrosarcoma. See Fig. 1 for family pedigree.

      CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

      CaseHPOFreeText: Patient presented with his initial VHL-related clinical manifestations at 16Y0M. She had adrenal pheochromocytoma and diagnosed with VHL subtype 2A (see table 1).

      CaseNotHPOs: HP:0002668 (paraganglioma)

      CaseNotHPOFreeText: Patient does not have paraganglioma.

      CasePreviousTesting: N/A

      PreviouslyPublished: 8550742

      SupplementalData: N/A

      Variant: p.V166F (c.496G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2224, https://www.ncbi.nlm.nih.gov/clinvar/variation/2224/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: V166F (c.496G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transversion DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:VHL:16 AgeOfPresentation:adrenalpheochromocytoma:16 CivicName:V166F(c.496G>T) cDNAPosition:496 ProteinPosition:166 AminoAcidChange:VALtoPHE RefSeq:NM_000551.3 ClinVarID:Yes ClinVarID:2224 Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    4. ClingenBaseline 23 Oct 2026
      16 different families

      PatientID: 1

      KindredID: 5

      Case: M, 19Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Patient had 3 carrier children of this mutation, without any further phenotypic information.

      CasePresentingHPOs: HP:0005584; HP:0000107; HP:0006748; HP:0009713; HP:0001737; HP:0030939; HP:0100684 (renal cell carcinoma, renal cysts, adrenal pheochromocytoma, spinal hemangioblastoma, pancreatic cysts, endolymphatic sac tumor, salivary gland neoplasm)

      CaseHPOFreeText: Patient presented with renal cell carcinoma, renal cysts, adrenal pheochromocytoma, spinal hemangioblastoma, pancreatic cysts, endolymphatic sac tumor and salivary gland neoplasm at age 19Y0M. Patient was diagnosed with VHL type 1 (see table 2).

      CaseNotHPOs: HP:0002668; HP:0030405 (paraganglioma; pancreatic endocrine tumor)

      CaseNotHPOFreeText: Patient negative for paraganglioma and pancreatic endocrine tumor.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G93R (c.277G>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223174, https://www.ncbi.nlm.nih.gov/clinvar/variation/223174

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant, transversion

      CivicName: G93R (c.277G>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transversion RefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:renalcyst DiseaseEntity:renalcellcarcinoma DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:pancreaticcysts DiseaseEntity:endolymphaticsactumor DiseaseEntity:salivaryglandneoplasm CivicName:G93R(c.277G>C) cDNAPosition:277 ProteinPosition:93 AminoAcidChange:GLYtoARG ClinVarID:Yes ClinVarID:223174 Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    5. ClingenBaseline 21 Oct 2026
      In 1996, we described a 3 generation VHL 2A kindred with 11 mutation carriers. We aim to share our experience regarding the long-term follow-up of this family

      PatientID: 19

      KindredID: 1

      Case: F, 17Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: This patient was a member of family 1, where 14/32 total patients were diagnosed with VHL. One of which (I-32) was a mutational carrier with down syndrome. The other 13 patients had varying phenotypes, including adrenal pheochromocytoma, pancreatic endocrine tumors, liver and bone metastases, paraganglioma, cerebellar, spinal, and retinal hemangioblastomas, polycythemia, and chondrosarcoma. See Fig. 1 for family pedigree.

      CasePresentingHPOs: HP:0006748; HP:0030405 (adrenal pheochromocytoma; pancreatic endocrine tumor)

      CaseHPOFreeText: Patient presented with his initial VHL-related clinical manifestations at 17Y0M. She had adrenal pheochromocytoma and pancreatic endocrine tumor. She was diagnosed with VHL subtype 2A at age 18Y0M (see table 1).

      CaseNotHPOs: HP:0002668 (paraganglioma)

      CaseNotHPOFreeText: Patient does not have paraganglioma.

      CasePreviousTesting: N/A

      PreviouslyPublished: 8550742

      SupplementalData: N/A

      Variant: p.V166F (c.496G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2224, https://www.ncbi.nlm.nih.gov/clinvar/variation/2224/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: V166F (c.496G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transversion DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:VHL:17 CivicName:V166F(c.496G>T) cDNAPosition:496 ProteinPosition:166 AminoAcidChange:VALtoPHE RefSeq:NM_000551.3 ClinVarID:2224 ClinVarID:Yes Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    6. ClingenBaseline 21 Oct 2026
      16 different families

      PatientID: IX-I

      KindredID: 9

      Case: M, 68Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: No family history reported.

      CasePresentingHPOs: HP:0006748; HP:0002668; HP:0030405; HP:0001737; HP:0006880 (adrenal pheochromocytoma, paraganglioma, pancreatic endocrine tumor, pancreatic cyst, cerebellar hemangioblastoma)

      CaseHPOFreeText: Patient presented with adrenal pheochromocytoma, paraganglioma, pancreatic endocrine tumor, pancreatic cyst, and cerebellar hemangioblastoma at age 55Y0M and was diagnosed with VHL type 2A (see table 2).

      CaseNotHPOs: HP:0000107; HP:0005584 (renal cyst; renal cell carcinoma)

      CaseNotHPOFreeText: Patient negative for renal cell carcinoma and renal cysts.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: complete deletion

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: deletion

      CivicName: NULL (deletion)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:deletion RefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:paraganglioma DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:pancreaticcysts DiseaseEntity:cerebellarhemangioblastoma cDNAPosition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A NoFamilyInfo UnregisteredVariant CivicName:NULL(completedeletion) inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    7. ClingenBaseline 21 Oct 2026
      In 1996, we described a 3 generation VHL 2A kindred with 11 mutation carriers. We aim to share our experience regarding the long-term follow-up of this family

      PatientID: 19

      KindredID: 1

      Case: F, 17Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: This patient was a member of family 1, where 14/32 total patients were diagnosed with VHL. One of which (I-32) was a mutational carrier with down syndrome. The other 13 patients had varying phenotypes, including adrenal pheochromocytoma, pancreatic endocrine tumors, liver and bone metastases, paraganglioma, cerebellar, spinal, and retinal hemangioblastomas, polycythemia, and chondrosarcoma. See Fig. 1 for family pedigree.

      CasePresentingHPOs: HP:0006748; HP:0030405 (adrenal pheochromocytoma; pancreatic endocrine tumor)

      CaseHPOFreeText: Patient presented with his initial VHL-related clinical manifestations at 17Y0M. She had adrenal pheochromocytoma and pancreatic endocrine tumor. She was diagnosed with VHL subtype 2A at age 18Y0M (see table 1).

      CaseNotHPOs: HP:0002668 (paraganglioma)

      CaseNotHPOFreeText: Patient does not have paraganglioma.

      CasePreviousTesting: N/A

      PreviouslyPublished: 8550742

      SupplementalData: N/A

      Variant: p.V166F (c.496G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2224, https://www.ncbi.nlm.nih.gov/clinvar/variation/2224/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: V166F (c.496G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transversion DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:VHL:17 CivicName:V166F(c.496G>T) cDNAPosition:496 ProteinPosition:166 AminoAcidChange:VALtoPHE RefSeq:NM_000551.3 ClinVarID:2224 ClinVarID:Yes Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    8. ClingenBaseline 21 Oct 2026
      16 different families

      PatientID: IX-I

      KindredID: 9

      Case: M, 68Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: No family history reported.

      CasePresentingHPOs: HP:0006748; HP:0002668; HP:0030405; HP:0001737; HP:0006880 (adrenal pheochromocytoma, paraganglioma, pancreatic endocrine tumor, pancreatic cyst, cerebellar hemangioblastoma)

      CaseHPOFreeText: Patient presented with adrenal pheochromocytoma, paraganglioma, pancreatic endocrine tumor, pancreatic cyst, and cerebellar hemangioblastoma at age 55Y0M and was diagnosed with VHL type 2A (see table 2).

      CaseNotHPOs: HP:0000107; HP:0005584 (renal cyst; renal cell carcinoma)

      CaseNotHPOFreeText: Patient negative for renal cell carcinoma and renal cysts.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: complete deletion

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: deletion

      CivicName: NULL (deletion)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:deletion RefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:paraganglioma DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:pancreaticcysts DiseaseEntity:cerebellarhemangioblastoma cDNAPosition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A NoFamilyInfo UnregisteredVariant CivicName:NULL(completedeletion) inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    endocrinepractice.org/article/S1530-891X(20)48218-7/fulltext
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A Case of Von Hippel-Lindau Disease with Bilateral Pheochromocytoma and Ectopic Hypersecretion of Intact Parathyroid Hormone in an Adolescent Girl
    1
    1. ClingenBaseline 26 Oct 2026
      2. Presentation of CaseA 17-year-old girl was referred to our department for the investigation of a newly diagnosed diabetes mellitus and a severe arterial hypertension. She was the first child of consanguineous parents. Her past medical history was unremarkable. Her family history was notable for type 2 diabetes and dyslipidemia but no history of pheochromocytoma, paraganglioma, unexplained sudden death, or condition that may lead to thinking about VHL disease was reported.As symptoms, the patient complained of headaches, palpitations, diaphoresis, and hot flashes since one month. She reported also asthenia and body weight loss of five kilograms in two weeks.On examination, she had a body weight of 50 kg, a body height of 154 cm, a body mass index of 21.1 kg/m2, a blood pressure of 200/100 mmHg without orthostatic hypotension, a regular pulse of 120 bpm, and a large abdominal café-au-lait spot (Figure 1). Thyroid, abdominal, and neurological examinations were normal.Open in a separate windowFigure 1A large abdominal café-au-lait spot.Twenty-four-hour blood pressure monitoring confirmed the diagnosis of hypertension and the presence of peaks of 230/110 mmHg. Electrocardiogram showed a sinus tachycardia. Capillary glucose level was 2.68 g/l without ketosis.Fundoscopy showed grade 3 hypertensive retinopathy without any other abnormalities.The results of biological investigations are shown in Table 1.Table 1Biological parameters before and after surgery. Before surgeryAfter surgeryReference rangesFasting glucose level (mmol/l)16.394.784.12–5.55Glycated hemoglobin (%)10.125.91≤5.6Total cholesterol (mmol/l)11.835.233.1–5.18Triglycerides (mmol/l)2.431.210.57–1.71Natremia (mmol/l)135140135–145Kalemia (mmol/l)3.343.6–5Creatinine (mg/L)664–13Calcium (mg/L)111.29888–105Phosphate (mg/L)443627–45Albumin (g/l)47.22—35–52Intact PTH∗ (μg/L)1825411–62TSH (mUI/L)0.625—0.12–3.4FT4 (ng/dl)1.31—0.71–1.85Calcitonin (ng/L)2.70—<10.0024 h-urine NMN (μg/24)315057030–60024 h-urine MN (μg/24)40.21220–34524 h-urine sodium (mmol/24 h)88.5— 24 h-urine potassium (mmol/24 h)60— 24 h-urine calcium (mg/24 h)200— 24 h-proteinuria (g/24)0.3—<0.3Open in a separate windowPTH: parathormone, TSH: thyroid stimulating hormone, FT4: free-T4, NMN: normetanephrines, MN: metanephrines. ∗The intact PTH dosage was made using 3rd generation chemiluminescence immunoassay.The diagnosis of clinically suspected pheochromocytoma was confirmed by the dosage of urinary methoxylated derivatives at 5 times the upper limit of normal. In addition, the diagnosis of diabetes mellitus, dyslipidemia, and primary hyperparathyroidism were made.The abdominal computed tomography (CT) showed two adrenal masses: the first on the right measuring 35 × 55 × 70 mm with a spontaneous density of 30 HU heterogeneously enhanced in the arterial time showing areas of necrosis with an absolute washout of 40%, the second on the left measuring 24 × 27 mm with the same characteristics as the first one (Figure 2). There were neither other localizations nor lymph nodes. Metaiodobenzylguanidine (MIBG) scintigraphy exhibited a high accumulation of the tracer in both adrenal tumors with no other localization. Cervical ultrasound and 99mTc-sestamibi scintigraphy were normal. Cardiac ultrasound was normal.Open in a separate windowFigure 2Abdominal computed tomography showing the two adrenal masses (two white arrows).

      PatientID: N/A (case)

      KindredID: 1

      Case: F, 18Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Not relevant - She was the first child of consanguineous parents. Her family history was notable for type 2 diabetes and dyslipidemia but no history of pheochromocytoma, paraganglioma, unexplained sudden death, or condition relevant to VHL. However, the family screening for VHL has not been performed.

      CasePresentingHPOs: HP:0006748; HP:0000819; HP:0008200 (adrenal pheochromocytoma; Diabetes mellitus; hyperparathyroidism)

      CaseHPOFreeText: First brought to clinic for newly diagnosed diabetes mellitus and severe arterial hypertension. As symptoms, the patient complained of headaches, palpitations, diaphoresis, and hot flashes since one month. She reported also asthenia and body weight loss of five kilograms in two weeks. Pheochromocytoma was confirmed. CT showed adrenal masses: Right measuring 35×55×70mm, and left measuring 24×27mm. She underwent a bilateral adrenalectomy in two steps. Pathological examination confirmed bilateral adrenal pheochromocytomas. 12 months post, follow up is clear.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: Thyroid, abdominal, and neurological examinations were normal.

      CasePreviousTesting: RET

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R64P (c.191G>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2226 https://www.ncbi.nlm.nih.gov/clinvar/variation/2226/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: R64P (c.191G>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:diabetesmellitus DiseaseEntity:hyperparathyroidism AgeOfPresentation:adrenalpheochromocytoma:17 cDNAposition:191 CivicName:R64P(c.191G>C) ProteinPosition:64 AminoAcidChange:ARGtoPRO MutationType:missense_variant;transversion ClinVarID:2226 ClinVarID:Yes NonFamilial PreviousTesting:RET inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7428957/
  4. link.springer.com link.springer.com
    Laparoscopic Organ-Sparing Resection of Von Hippel-Lindau Disease-Associated Pancreatic Neuroendocrine Tumors
    1
    1. ClingenBaseline 26 Oct 2026
      A female patient presented with VHL disease at age 16, when a symptomatic left adrenal pheochromocytoma was diagnosed and removed laparoscopically. At age 28, a cystic cerebellar hemangioblastoma was removed. Molecular genetic testing revealed the mutation VHL c.500 G > A (p. R167Q).In 2010, she was admitted to the Freiburg Preventive Medicine Center. Baseline MRI detected multiple intraspinal hemangioblastomas associated with tumor cysts. Abdominal MRI also showed a 5.6 × 5.4 cm solid tumor in the pancreatic tail that was richly vascularized

      PatientID: 3

      KindredID: 3

      Case: F, 28Y0M, German

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748, HP:0006880, HP:0009713, HP:0030405, HP:0010302 (Adrenal pheochromocytoma, cerebellar hemangioblastoma, spinal hemangioblastoma, pancreatic endocrine tumour, spinal cord tumor)

      CaseHPOFreeText: At age 16 she presented with a left adrenal pheochromocytoma which was removed laparoscopically. At age 28, a cystic cerebellar hemangioblastoma was removed. In 2010, she was admitted to the Freiburg Preventive Medicine Center. Baseline MRI detected multiple intraspinal hemangioblastomas associated with tumor cysts. Abdominal MRI also showed a 5.6 × 5.4 cm solid tumor in the pancreatic tail that was richly vascularized. Three of eleven lymph nodes showed metastases.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167Q (c.500G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVar: 2216 https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/

      CAID: N/A

      gnomAD: 0.000003977 https://gnomad.broadinstitute.org/variant/3-10191507-G-A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R167Q (c.500G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline Ethnicity:German DiseaseEntity:VHL NonFamilial DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:spinalcordtumor AgeOfPresentation:spinalcordtumor:28 AgeOfPresentation:adrenalpheochromocytoma:16 AgeOfPresentation:cerebellarhemangioblastoma:28 AgeOfPresentation:spinalhemangioblastoma:28 AgeOfPresentation:pancreaticendocrinetumor:28 AssumedRefSeq:NM_000551.3 MutationType:missense_variant;transition ProteinPosition:167 CivicName:R167Q(c.500G>A) cDNAposition:500 AminoAcidChange:ARGtoGLN ClinVarID:2216 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    link.springer.com/article/10.1007/s00268-010-0878-5
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A malignant pheochromocytoma in a child with von Hippel-Lindau mutation
    1
    1. ClingenBaseline 26 Oct 2026
      A 3 year-old girl was admitted in the Department of Pediatric Oncology following several months history of febrile episodes, sweating and irritability. Symptoms were first interpreted as being of infectious causes, and that is why she received repeated antibiotic therapies. There was no improvement, and that is why more investigations were performed. An abdominal ultrasound performed in a pediatric hospital revealed a right adrenal tumor mass that prompted the transfer to our unit.Family history: the patient’s mother aged 38 was diagnosed with bilateral pheochromocytoma resected when she was the age of 18 years. She presented several relapses, the most recent one at the age of 32, when she was also diagnosed with cerebral angioma. Genetic testing revealed the presence of the VHL c 244 C>G (p. Arg 82 Gly) heterozygote mutation, while the tests for RET, SDHB, SDHC and SDHD were negative.The clinical examination of our patient revealed: pallor, paroxysmal febrile episodes with irritability and sweating, tachycardia (130/min), hypertension (170/126 mmHg). There was no palpable abdominal mass.Abdominal ultrasound: well delimited tumor of the right adrenal gland, 37/34/35 mm in diameter, irregular with transonic inclusions.Magnetic resonance imaging (MRI): right adrenal tumor, 35/42/43 mm in diameter, well delimited, irregular, with marked heterogenous contrast intake, presenting cystic and necrotic areas (Figure 1).Open in a separate windowFigure 1Right adrenal tumor.Serum markers: urinary vanillylmandelic acid (VMA) 31.1 mg/24 h (normal <6.6), neuron specific enolase (NSE) 59.79 ng/ml (normal <17), ferritin 306.6 ng/ml (normal range 6–67), lactic dehydrogenase (LDH) 333 IU/L (normal range 125–300).Genetic examination: VHL c 244 C>G (p. Arg 82 Gly) heterozygotic mutation.Management: Complete surgical resection was performed with special precautions, but it was uneventful and blood pressure instantly dropped to normal.Go to:PathologyMacroscopic encapsuled 40/40/30 mm tumor, delimited by a bright yellow rim. The tumor is nodular with small hemorrhagic and necrotic areas.Microscopy: adrenal gland is compressed by a well delimited tumor made by cell nests of variable dimensions, separated by a reduced vascular connective stroma (Zellballen), with relatively numerous mitoses (8/10 High Power Field - HPF), most of them typical, very few atypical, extensive necrosis and vascular invasion. The aspect is suggestive for a malignant pheochromocytoma with Pheochromocytoma of the Adrenal gland Scaled Score (PASS) score 7: vascular invasion (1), necrosis (2), mitoses (2) (Figure 2).Open in a separate windowFigure 2Example of light microscopy image of sections from the excised tumor showing characteristics of malignant pheochromocytoma (Zellballen with central necrosis), hematoxylin eosin (HE) stain (10X).Go to:OutcomeAfter 6 months of follow-up, the patient is without any clinical symptoms, with normal blood pressure, no tumor markers, no evidence of tumor on cerebral and abdominal MRI and a normal ophthalmoscopy.

      PatientID: None

      KindredID: 1

      Case: F, 3Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Mother aged 38 was diagnosed with bilateral pheochromocytoma resected when she was the age of 18 years. She presented several relapses, the most recent one at the age of 32, when she was also diagnosed with cerebral angioma. Genetic testing revealed the presence of the VHL c 244 C>G (p. Arg 82 Gly) heterozygote mutation, while the tests for RET, SDHB, SDHC and SDHD were negative.

      CasePresentingHPOs: HP:0001954; HP:0000980; HP:0001649; HP:0000822; HP:0002666; HP:0006748 (Recurrent fever, Pallor, Tachycardia, Hypertension, Pheochromocytoma, Adrenal pheochromocytoma)

      CaseHPOFreeText: Several months history of febrile episodes, sweating and irritability. An abdominal ultrasound performed in a pediatric hospital revealed a right adrenal tumor mass. The clinical examination of our patient revealed: pallor, paroxysmal febrile episodes with irritability and sweating, tachycardia, hypertension. There was no palpable abdominal mass. Abdominal ultrasound showed a tumor of the right adrenal gland. MRI showed a right adrenal tumor confirmed by pathology to be a malignant pheochromocytoma. After 6 months from the complete resection of the tumor, the daughter is without any clinical symptoms, with normal blood pressure, normal ophthalmoscopy, no tumor markers and no evidence of tumor on cerebral or abdominal MRI.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R82G (c.244C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 1297059, https://www.ncbi.nlm.nih.gov/clinvar/variation/1297059/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: R82G (c.244C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:recurrentfever DiseaseEntity:pallor DiseaseEntity:pheochromocytoma DiseaseEntity:tachycardia DiseaseEntity:hypertension DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:recurrentfever:3 AgeOfPresentation:pallor:3 AgeOfPresentation:pheochromocytoma:3 AgeOfPresentation:adrenalpheochromocytoma:3 AgeOfPresentation:tachycardia:3 AgeOfPresentation:hypertension:3 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:244 ProteinPosition:82 AminoAcidChange:ARGtoGLY ClinVarID:1297059 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:R82G(c.244C>G) Familial inferred_gene_hgnc:3755 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5536217/
  6. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Clinical presentation of Von Hippel Lindau syndrome type 2B associated with VHL p.A149S mutation in a large Turkish family
    2
    1. ClingenBaseline 26 Oct 2026
      Nine patients were diagnosed with pheochromocytoma. Lumbal spinal hemangioblastoma and pancreatic neuroendocrine tumor without pheochromocytoma were detected in one patient. In patients with pheochromocytoma, additional tumors, such as retinal angioma, renal cell carcinoma, pancreatic serous cystadenoma, and pancreatic neuroendocrine tumors were detected. All patients were diagnosed as VHL syndrome type 2B.

      PatientID: III-10

      KindredID: 1

      Case: F, 27Y0M, Turkish

      DiseaseAssertion: VHL

      FamilyInfo: 17 family members from three generations were examined with the c.445G>T mutation and diagnosed with VHL type 2B. 11 individuals had clinical manifestations and 6 were asymptomatic carriers. One additional member (II-9) had passed before testing however were likely a carrier of the mutation. This patient’s mother, brother, and more, had the mutation. See Fig. 1 for full family pedigree.

      CasePresentingHPOs: HP:0006748; HP:0005584 (adrenal pheochromocytoma; renal cell carcinoma)

      CaseHPOFreeText: bilateral adrenal pheochromocytoma, right RCC

      CaseNotHPOs: HP:0030393; HP:0009715 (endolymphatic sac tumor, papillary cystadenoma of the epididymis) 

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.A149S (c.445G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 127829 https://www.ncbi.nlm.nih.gov/clinvar/variation/127829/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: A149S (c.445G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Turkish Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:adrenalpheochromocytoma ClinVarID:127829 ClinVarID:Yes CivicName:A149S(c.445G>T) cDNAposition:445 ProteinPosition:149 AminoAcidChange:ALAtoSER MutationType:missense_variant;transversion Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 23 Oct 2026
      Nine patients were diagnosed with pheochromocytoma. Lumbal spinal hemangioblastoma and pancreatic neuroendocrine tumor without pheochromocytoma were detected in one patient. In patients with pheochromocytoma, additional tumors, such as retinal angioma, renal cell carcinoma, pancreatic serous cystadenoma, and pancreatic neuroendocrine tumors were detected. All patients were diagnosed as VHL syndrome type 2B.

      PatientID: II-2

      KindredID: 1

      Case: F, 58Y0M, Turkish

      DiseaseAssertion: VHL

      FamilyInfo: 17 family members from three generations were examined with the c.445G>T mutation and diagnosed with VHL type 2B. 11 individuals had clinical manifestations and 6 were asymptomatic carriers. This patient’s 3 siblings had the mutation, 2 of her sons, and 3 grandchildren, and more. See Fig. 1 for detailed family pedigree.

      CasePresentingHPOs: HP: 0006748; HP:0005584; HP:0001737; HP:0030405 (adrenal pheochromocytoma, renal cell carcinoma, pancreatic cysts, pancreatic endocrine tumor)

      CaseHPOFreeText: Right adrenal nonfunctional pheochromocytoma; right renal cell carcinoma; Pancreatic serous cystadenoma (with a 7.3 cm tumor at 55Y), and this patient was reoperated 3 years later due to a pancreatic neuroendocrine tumor.

      CaseNotHPOs: HP:0030393; HP:0009715 (endolymphatic sac tumor, papillary cystadenoma of the epididymis) 

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.A149S (c.445G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 127829 https://www.ncbi.nlm.nih.gov/clinvar/variation/127829/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: A149S (c.445G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Turkish DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts DiseaseEntity:pancreaticendocrinetumor Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:A149S(c.445G>T) cDNAposition:445 ProteinPosition:149 AminoAcidChange:ALAtoSER MutationType:missense_variant;transversion ClinVarID:127829 ClinVarID:Yes Familial FamilyPedigree AgeOfPresentation:pancreaticendocrinetumor:55 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/23673869/
  7. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Novel genotype–phenotype correlations in five Chinese families with Von Hippel–Lindau disease
    1
    1. ClingenBaseline 26 Oct 2026
      ProbandMalec.293A>G; p.Try98Cys

      PatientID: 5

      KindredID: 5

      Case: M, 10Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: (See figure 3E for pedigree). The proband (Patient 5's) mother had left adrenal pheochromocytomas, and his grandmother had bilateral adrenal pheochromocytomas.

      CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

      CaseHPOFreeText: Proband presented with bilateral adrenal pheochromocytoma

      CaseNotHPOs:None

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y98C (c.293A>G)

      LegacyVariant: N/A

      CaseProblemVariant Free Text: N/A

      ClinVar: 223176, https://www.ncbi.nlm.nih.gov/clinvar/variation/223176/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_transition

      CivicName: Y98C (c.293A>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:293 ProteinPosition:98 AminoAcidChange:TYRtoCYS ClinVarID:223176 MutationType:missense_variant;transition CivicName:Y98C(c.293A>G) Familial FamilyPedigree Ethnicity:Chinese ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6026882/
  8. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    A type 2B von Hippel-Lindau family masquerading as a metastatic sporadic renal cell carcinoma
    1
    1. ClingenBaseline 26 Oct 2026
      No abstract available

      PatientID: IV-3

      KindredID: 1

      Case: M, 77Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: The patient’s mother and two brothers had died with cerebellar hemangioblastoma, although genetic testing was not performed. One of the patient’s four children, a 46Y male, also presented with a small renal tumour, renal cysts, and pancreatic cysts; he was found to carry the same mutation the patient carried. One of the patient’s grandsons, a 10Y male, was also found to carry the same mutation as the patient but was asymptomatic. Genealogical inquiry also revealed that the patient was distantly related to a known VHL family; one member, a 47Y male, was previously operated on for CNS hemangioblastoma, RCC and symptomatic pheochromocytoma and was found to carry the same mutation as the proband. Another female member had previously presented with retinal hemangioblastoma before becoming deceased at 37Y. The paper also asserted that the patient’s grandmother and two distant relatives carried the mutation, although genotyping was not performed and phenotypic information was not provided.

      CasePresentingHPOs: HP:0006880; HP:0001737; HP:0006770; HP:0006748; HP:0000479 (Cerebellar hemangioblastoma, pancreatic serous cystadenoma, clear cell renal cell carcinoma, adrenal pheochromocytoma, retinal lesions)

      CaseHPOFreeText: The patient was originally diagnosed with metastatic bilateral clear cell renal cell carcinoma at 68Y and underwent chemotherapy for three months. The metastases were later reinterpreted to be a cystic hemangioblastoma and a benign serous cystadenoma. The patient was also found to have a non-secreting adrenal pheochromocytoma at 73Y and a clear cell renal cell carcinoma metastasis in the thyroid at 74Y. The patient had also previously presented with retinal lesions, although detailed records were unavailable.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R82P(c.245G>C)

      LegacyVariant: N/A

      ClinVarID: 193118, http://www.ncbi.nlm.nih.gov/clinvar/variation/193118

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: R82P(c.245G>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:neoplasmofthepancreas DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:retinallesions AgeOfPresentation:clearcellrenalcellcarcinoma:68 AgeOfPresentation:cerebellarhemangioblastoma:68 AgeOfPresentation:neoplasmofthepancreas:68 AgeOfPresentation:adrenalpheochromocytoma:73 AgeOfPresentation:clearcellrenalcellcarcinoma:74 Mutation:Germline RefSeq:N/A AssumedRefSeq:NM_000551.3 cDNAposition:245 ProteinPosition:82 AminoAcidChange:ARGtoPRO ClinVarID:Yes ClinVarID:193118 MutationType:missense_variant;transversion CivicName:R82P(c.245G>C) Familial FamilyPedigree inferred_gene_hgnc:2217 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/12603429/
  9. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations in the vhl gene in patients presenting with phaeochromocytomas
    2
    1. ClingenBaseline 26 Oct 2026

      PatientID: 19

      KindredID: 19

      Case: F, 72Y0M, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: Unilateral benign adrenal pheochromocytoma that was operated on at age 58.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.I147T (c.440T>C)

      LegacyVariant: I147T (c.653T>C)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 411964, https://www.ncbi.nlm.nih.gov/clinvar/variation/411964/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Variant reported as I147T (c.653T>C), legacy nomenclature (AF010238.1), and was mapped to p.Ile147Thr (c.440T>C) in accordance with reference sequence NM_000551.3.

      MutationType: missense_variant;transition

      CivicName: I147T (c.440T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:adrenalpheochromocytoma Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:440 ProteinPosition:147 AminoAcidChange:ILEtoTHR ClinVarID:411964 ClinVarID:Yes MutationType:missense_variant;transition CivicName:I147T(c.440T>C) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 22 Oct 2026

      PatientID: 37

      KindredID: 37

      Case: M, 35Y0M, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: Unilateral benign adrenal pheochromocytoma that was operated on at age 26.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 32179488

      SupplementalData: N/A

      Variant: p.L63P (c.188T>C)

      LegacyVariant: L63P (c.401T>C)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2227, https://www.ncbi.nlm.nih.gov/clinvar/variation/2227/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Variant reported as L63P (c.401T>C), legacy nomenclature (AF010238.1), and was mapped to p.Leu63Pro (c.188T>C) in accordance with reference sequence NM_000551.3.

      MutationType: missense_variant;transition

      CivicName: L63P (c.188T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:adrenalpheochromocytoma Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:188 ProteinPosition:63 AminoAcidChange:LEUtoPRO ClinVarID:2227 ClinVarID:Yes MutationType:missense_variant;transition CivicName:L63P(c.188T>C) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/9663592/
  10. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Head and Neck Paragangliomas in Von Hippel-Lindau Disease and Multiple Endocrine Neoplasia Type 2
    3
    1. ClingenBaseline 25 Oct 2026
      In 1994, a 34-yr-old woman without personal and familial history for VHL was referred to the hospital because of persistent pharyngeal discomfort. MRI demonstrated a 4-cm tumor in the parapharyngeal space suggestive of a schwannoma or a carotid paraganglioma. The tumor was removed, and histology revealed a paraganglioma. Postoperatively, she had Horner’s syndrome and a transitory hypoglossal paresis. At age 46, bilateral adrenal pheochromocytoma and a paraaortic paraganglioma were removed. Later, her niece was diagnosed with a pheochromocytoma, and her brother suffered from pheochromocytoma, renal cell carcinoma, and retinal hemangioblastomas. The proband’s mother was then found to have pheochromocytoma. Molecular analysis identified the VHL mutation p.Tyr98His.

      PatientID: 10

      KindredID: 10

      Case: F, 46Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: The patient's niece was diagnosed with a pheochromocytoma, her brother suffered from pheochromocytoma, renal cell carcinoma, and retinal hemangioblastomas, and her mother was found to have pheochromocytoma.

      CohortInfo: An international consortium registered patients with head and neck paragangliomas with VHL or RET gene mutations.

      CasePresentingHPOs: HP:0002864, HP:0002277, HP:0006748 (Paraganglioma of head and neck, Horner syndrome, adrenal pheochromocytoma)

      CaseHPOFreeText: At age 34 the patient was found to have a 4-cm tumor in the parapharyngeal space. It was histologically confirmed to be a paraganglioma. Postoperatively, she had Horner’s syndrome and a transitory hypoglossal paresis. At age 46, bilateral adrenal pheochromocytoma and a paraaortic paraganglioma were removed.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y98H (c.292T>C)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2223 https://www.ncbi.nlm.nih.gov/clinvar/variation/2223/

      CAID: N/A

      gnomAD: 0.00001343 https://gnomad.broadinstitute.org/variant/3-10183823-T-C

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: Y98H (c.292T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.3 DiseaseEntity:VHL Familial DiseaseEntity:Paragangliomaofheadandneck DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:Hornersyndrome AgeOfPresentation:Paragangliomaofheadandneck:34 AgeOfPresentation:Paragangliomaofheadandneck:46 AgeOfPresentation:adrenalpheochromocytoma:46 PreviousTesting:RET ProteinPosition:98 CivicName:Y98H(c.292T>C) cDNAposition:292 AminoAcidChange:TYRtoHIS ClinVarID:2223 ClinVarID:Yes MutationType:missense_variant;transition inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 24 Oct 2026
      Case 12In 1993, a 39-yr-old female with recent onset of hypertension was diagnosed with a right pheochromocytoma. At age 36, a suspected left pheochromocytoma was noted by CT and increased urinary metanephrines was confirmed at age 39 by [123I]MIBG scintigraphy. This imaging showed in addition an uptake located in the neck. MRI confirmed a left adrenal tumor and a left 2-cm vagal paraganglioma that was removed and confirmed histopathologically. Genetic testing identified the VHL p.Tyr156Cys mutation. No other tumor of the VHL spectrum was discovered. Three of her four sons were found to carry the mutation. Clinical screening of all 3 disclosed a 2.4-cm abdominal paraganglioma in one of them but no lesion in the other brothers.

      PatientID: 12

      KindredID: 12

      Case: F, 36Y0M, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: 3/4 of her sons also carried the mutation, one of which presented with a paraganglioma.

      CohortInfo: An international consortium registered patients with head and neck paragangliomas with VHL or RET gene mutations.

      CasePresentingHPOs: HP:0002668; HP:0006748; HP:0002886 (paraganglioma, adrenal pheochromocytoma, vagal paraganglioma)

      CaseHPOFreeText: At 39Y (in 1993), she presented with recent onset of hypertension and was diagnosed with a right pheochromocytoma. (At age 36, a suspected left pheochromocytoma was noted by CT and confirmed at age 39 by [123I]MIBG scintigraphy). This imaging showed in addition an uptake located in the neck. MRI confirmed a left adrenal tumor and a left 2-cm vagal paraganglioma that was removed and confirmed histopathologically.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: No other tumor of the VHL spectrum was discovered. 

      CasePreviousTesting: RET

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y156C (c.467A>G)

      LegacyVariant: p.Y156C

      CaseProblemVariantFreeText: The publication only provides the p., the mutation was able to be deduced to p.Y156C (c.467A>G)

      ClinVarID: 43600 https://www.ncbi.nlm.nih.gov/clinvar/variation/43600/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: Y156C (c.467A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.2 DiseaseEntity:paraganglioma DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:vagalparaganglioma AgeOfPresentation:pheochromocytoma:39 PreviousTesting:RET cDNAposition:467 CivicName:Y156C(c.467A>G) ProteinPosition:156 AminoAcidChange:TYRtoCYS MutationType:missense_variant;transition ClinVarID:43600 ClinVarID:Yes Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    3. ClingenBaseline 22 Oct 2026
      Case 11In 1978, an 8-yr-old girl without familial history of VHL was operated for a right pheochromocytoma and at age 13 for a contralateral pheochromocytoma. At age 15, a 4-cm mass at the neck was diagnosed by selective arteriography as a carotid paraganglioma that was removed and histologically confirmed. The patient was then operated twice for cerebellar hemangioblastoma at age 22, leading to the diagnosis of VHL disease. At age 27, the patient was operated again for a retrocaval pheochromocytoma and for islet cell tumors. The patient was also repeatedly treated for bilateral retinal hemangioblastomas leading to blindness at age 32. At age 36, again a pheochromocytoma was removed. Molecular genetic analysis identified the p.Thr157Ile VHL germline mutation. So far, there are no affected relatives.

      PatientID: 11

      KindredID: 11

      Case: F, 36Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: There was said to be, at the time, no affected relatives

      CohortInfo: An international consortium registered patients with head and neck paragangliomas with VHL or RET gene mutations.

      CasePresentingHPOs: HP:0006748; HP:0002668; HP:0006476; HP:0006880; HP:0009711; HP:0000618; HP:0010797 (adrenal pheochorocytoma, paraganglioma, abnormality of the pancreatic islet cells, cerebellar hemangioblastoma, retinal capillary hemangioblastoma, blindness, hemangioblastoma)

      CaseHPOFreeText: At 8Y, (in 1978), she was operated for a right pheochromocytoma; at age 13 for a contralateral pheochromocytoma; at age 15, for a 4-cm mass at the neck was diagnosed by selective arteriography as a carotid paraganglioma. The patient was then operated twice for cerebellar hemangioblastoma at age 22, leading to the diagnosis of VHL disease. At age 27, the patient was operated again for a retrocaval pheochromocytoma and for islet cell tumors. The patient was also repeatedly treated for bilateral retinal hemangioblastomas leading to blindness at age 32. At age 36, again a pheochromocytoma was removed

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.T157I (c.470C>T)

      LegacyVariant: p.T157I

      CaseProblemVariantFreeText: The publication only provides the p., the mutation was able to be deduced to p.T157I (c.470C>T)

      ClinVarID: 223223 https://www.ncbi.nlm.nih.gov/clinvar/variation/223223/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: T157I (c.470C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline Familial DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:paraganglioma DiseaseEntity:abnormalityofthepancreaticisletcells DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:blindness DiseaseEntity:hemangioblastoma AgeOfPresentation:pheochromocytoma:8 AgeOfPresentation:paraganglioma:15 AgeOfPresentation:cerebellarhemangioblastoma:22 AgeOfPresentation:abnormalityofthepancreaticisletcells:27 AgeOfPresentation:retinalcapillaryhemangioma:32 PreviousTesting:RET CivicName:T157I(c.470C>T) cDNAposition:470 ProteinPosition:157 AminoAcidChange:THRtoILE MutationType:missense_variant;transition ClinVarID:223223 ClinVarID:Yes RefSeq:NM_000551.2 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC2690424/
  11. 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
    4
    1. ClingenBaseline 25 Oct 2026
      VHL_15FFPEc.523T>Ap.Tyr175AsnFNAAdrenalPCCB

      PatientID: VHL_15 (tumor ID)

      KindredID: 15

      Case: F, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: The patient had a benign adrenal pheochromocytoma at an unknown age.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y175N (c.523T>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351756226, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.523T%3EA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: Y175N (c.523T>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:adrenalpheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:523 ProteinPosition:175 AminoAcidChange:TYRtoASN ClinVarID:N/A CAID:CA351756226 MutationType:missense_variant;transversion CivicName:Y175N(c.523T>A) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 22 Oct 2026
      VHL_2Frozenc.250G>Tp.Val84LeuM25AdrenalPCCB

      PatientID: VHL_2 (tumor ID)

      KindredID: 2

      Case: M, 25Y0M, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: The patient had a benign adrenal pheochromocytoma at 25Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V84L (c.250G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2236, https://www.ncbi.nlm.nih.gov/clinvar/variation/2236/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: V84L (c.250G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:25 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:250 ProteinPosition:84 AminoAcidChange:VALtoLEU ClinVarID:2236 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:V84L(c.250G>T) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    3. ClingenBaseline 21 Oct 2026
      VHL_3Frozenc.482G>Ap.Arg161GlnM37AdrenalPCCB

      PatientID: VHL_3 (tumor ID)

      KindredID: 3

      Case: M, 37Y0M, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: The patient had a benign adrenal pheochromocytoma at 37Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161Q (c.482G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182983, https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R161Q (c.482G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:37 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:482 ProteinPosition:161 AminoAcidChange:ARGtoGLN ClinVarID:182983 ClinVarID:Yes MutationType:missense_variant;transition CivicName:R161Q(c.482G>A) NoFamilyInfo inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    4. ClingenBaseline 21 Oct 2026
      VHL_3Frozenc.482G>Ap.Arg161GlnM37AdrenalPCCB

      PatientID: VHL_3 (tumor ID)

      KindredID: 3

      Case: M, 37Y0M, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: The patient had a benign adrenal pheochromocytoma at 37Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161Q (c.482G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182983, https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R161Q (c.482G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:37 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:482 ProteinPosition:161 AminoAcidChange:ARGtoGLN ClinVarID:182983 ClinVarID:Yes MutationType:missense_variant;transition CivicName:R161Q(c.482G>A) NoFamilyInfo inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    erc.bioscientifica.com/view/journals/erc/20/4/477.xml
  12. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Late recurrence after surgical resection of a pancreatic tumor in von Hippel-Lindau disease
    1
    1. ClingenBaseline 25 Oct 2026
      The long clinical history of a 45-year-old woman started at 22 years of age when she had surgery for a right adrenal pheochromocytoma. Two years later, a pancreaticoduodenectomy was performed to remove a pancreatic mass which turned out to be a pancreatic neuroendocrine tumor. After a long period of relative wellness, 21 years after the surgical resection of her primary pancreatic neuroendocrine tumor, abdominal lymph node metastases of pancreatic neuroendocrine origin occurred. In fact, three abdominal nodules were removed by laparoscopic surgery, and the histological examination showed well-differentiated neuroendocrine tumors with similar immunohistochemical characteristics and Ki67 below 1%.

      PatientID: N/A (case)

      KindredID: 1

      Case: F, 45Y0M, Italian

      DiseaseAssertion: Assumed VHL

      FamilyInfo: Genetic analysis was performed on the patients relatives, including her daughter. Her 55Y0M brother had the same mutation but no clinical signs of VHL disease.

      CasePresentingHPOs: HP:0006748; HP:0030405 (adrenal pheochromocytoma, pancreatic neuroendocrine tumour)

      CaseHPOFreeText: At 22Y0M, she had surgery for a right adrenal pheochromocytoma. Two years later, a pancreatic oduodenectomy was performed to remove a pancreatic neuroendocrine tumor. 21 years later, abdominal lymph node metastases of the pancreatic neuroendocrine that was removed 21 years prior had occurred. Three abdominal nodules that were found to be neuroendocrine tumours immunohistochemical characteristics were removed. The patient’s clinical history suggested a hereditary endocrine syndrome.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.T157I (c.470C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223223, https://www.ncbi.nlm.nih.gov/clinvar/variation/223223/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense variant; transition

      CivicName: T157I (c.470C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:NM_000551.3 DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:adrenalpheochromocytoma:22 AgeOfPresentation:pancreaticendocrinetumor:24 CivicName:T157I(c.470C>T) cDNAPosition:470 ProteinPosition:157 AminoAcidChange:THRtoILE ClinVarID:223223 ClinVarID:Yes Familial Ethnicity:Italian inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/19734639/
  13. www.e-enm.org www.e-enm.org
    Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population
    1
    1. ClingenBaseline 24 Oct 2026
      5 F/11 PCC VHL 3 c.482G>A (p.Arg161Gln) Post-NGS Targeted NGS P Bilateral adrenal 2.0 Benign Yes Symptomatic Noradrenergic

      PatientID: 5

      KindredID: 5

      Case: F, 11Y0M, Korean

      DiseaseAssertion: Adrenal Pheochromocytoma

      FamilyInfo: No information provided.

      CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

      CaseHPOFreeText: The patient presented with adrenal pheochromocytoma (see table 3)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

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

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161Q (c.482G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182983, https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: R161Q (c.482G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:NM_000551.3 DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:11 PreviousTesting:RET/NF1/MAX/SDHA/SDHAF2/SDHB/SDHC/SDHD CivicName:R161Q(c.482G>A) cDNAPosition:482 ProteinPosition:161 AminoAcidChange:ARGtoGLN ClinVarID:182983 NoFamilyInfo Ethnicity:Korean ClinVarID:Yes inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    e-enm.org/journal/view.php
  14. www.scielo.br www.scielo.br
    Molecular analysis of the Von Hippel-Lindau (VHL) gene in a family with non-syndromic pheochromocytoma: the importance of genetic testing
    1
    1. ClingenBaseline 24 Oct 2026
      One year later, a 10-year-old sister of the proband (II-2) was referred to our service because of palpitations, weight loss, diaphoresis, and shooting pain attacks that had started about two weeks earlier. Based on this clinical picture and because of her family history, a pheochromocytoma was suspected immediately. Her urinary metanephrines were elevated to 12.2 mg/g creatinine (< 1 mg/g). A CT of the abdomen revealed a mass in the left adrenal; there were no lesions in the pancreas or the kidney. This mass was also positive on MIBG scintigraphy. As in her brother, there was no suggestion that the paraganglia would also be involved. Her MRI of the brain, and her echocardiogram were both normal. She was then treated with an alpha-blocker (prazosin) in preparation for an open adrenalectomy. Histology and immunohistochemistry confirmed diagnosis of a pheochromocytoma in the left adrenal gland.

      PatientID: II-2

      KindredID: 1

      Case: F, 10Y0M, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromoyctoma

      FamilyInfo: The patient’s brother (II-1) was found to harbor the same germline mutation the patient harbored and had bilateral adrenal pheochromocytoma at 14Y. The same germline missense mutation was detected in another sister (II-4) with right adrenal pheochromocytoma and her asymptomatic daughter (III-1). The father was not available for genetic testing because he had died, apparently secondary to a hypertensive crisis. The five other family members which underwent genetic testing did not have the mutation.

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: At 10Y, the patient reported palpitations, weight loss, diaphoresis, and shooting pain attacks. Her urinary metanephrines were elevated to 12.2 mg/g creatinine. A CT of the abdomen revealed a mass in the left adrenal gland. Histology and immunohistochemistry confirmed diagnosis of left adrenal pheochromocytoma. Additional screening revealed no other tumours, so this fit the criteria of VHL type 2C.

      CaseNotHPOs: HP:0002668; HP:0012090; HP:0012210 (Paraganglioma, abnormal pancreas morphology, abnormal renal morphology)

      CaseNotHPOFreeText: There were no lesions in the pancreas or the kidney, there was also no suggestion that the paraganglia would also be involved. Her MRI of the brain, and her echocardiogram were both normal.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V166F (c.496G>T)

      LegacyVariant: N/A

      ClinVarID: 2224, https://www.ncbi.nlm.nih.gov/clinvar/variation/2224/

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: V166F(c.496G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:10 Mutation:Germline RefSeq:N/A AssumedRefSeq:NM_000551.3 cDNAposition:496 ProteinPosition:166 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:V166F(c.496G>T) FamilyPedigree Familial AminoAcidChange:VALtoPHE ClinVarID:2224 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    scielo.br/j/abem/a/MbLMTLsfq6jvN3HLJt5qZHH/
  15. onlinelibrary-wiley-com.uhn.idm.oclc.org onlinelibrary-wiley-com.uhn.idm.oclc.org
    A new germline VHL gene mutation in three patients with apparently sporadic pheochromocytoma
    1
    1. ClingenBaseline 24 Oct 2026
      Patient 2 A 17-year-old girl with a history of primitive headache, intense nocturnal sweating and 2-month-long amenorrhoea and elevated blood pressure presented a 7-cm-diameter right adrenal mass at abdominal sonography, confirmed by MRI. The mass showed inhomogeneous density: hypodensity in T1 and hyperdensity in T2 and after Gadolinium contrast. Immunometric assays indicated very high levels of chromogranin A (242 UI/L; NR 2–18) and catecholamines: noradrenaline levels were 14·460 nmol/day (NR: 90–470), and adrenaline and dopamine levels were in the normal range. A 123I-MIBG scintigraphy showed a high tracer uptake in right adrenal gland, as expected. The patient underwent surgical removal of the mass, which was 8 × 6 × 5 cm in size. Immunohistochemical assays indicated that the tumour was positive for chromogranin A and synaptophysin, compatible with a diagnosis of PHEO. Follow-up blood test after 2 years was within normal limits, except for a still moderate elevated CgA (67 UI/L, NR 2–18). The family history was negative for PHEO or other neuroendocrine tumours.

      PatientID: 2

      KindredID: 2

      Case: F, 17Y0M, Ethnicity Unknown

      DiseaseAssertion: adrenal pheochromocytoma

      FamilyInfo: None - The family history was negative for PHEO or other neuroendocrine tumours. Their parents however, decided not to be tested neither to extend the test to other family members

      CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

      CaseHPOFreeText: Apparently sporadic pheo. She had a history of primitive headache, intense nocturnal sweating and 2-month-long amenorrhoea and elevated blood pressure presented a 7-cm-diameter right adrenal mass at abdominal sonography, confirmed by MRI.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, SDHB, SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.D197N (c.589G>A)

      LegacyVariant: p.D197N (g.13,278)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351756524 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.589G%3EA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: D197N (c.589G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant NonFamilial Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:adrenalpheochromocytoma MutationType:missense_variant;transition cDNAposition:589 CivicName:D197N(c.589G>A) ProteinPosition:197 AminoAcidChange:ASPtoASN CAID:CA351756524 ClinVarID:N/A ExperimentalAssay PreviousTesting:RET/SDHB/SDHD inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.uhn.idm.oclc.org/doi/full/10.1111/cen.12032
  16. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Rationalization of genetic testing in patients with apparently sporadic pheochromocytoma/paraganglioma
    1
    1. ClingenBaseline 24 Oct 2026

      PatientID: None

      KindredID: 1

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: The proband was part of a cohort of apparently sporadic cases of pheochromocytoma/ paraganglioma, implying this individual had no family history of VHL disease or pheochromocytoma.

      CasePresentingHPOs: HP:0006748 (Adrenal Pheochromocytoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0002668 (Paraganglioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, SDHB, SDHC, and SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161Q (c.482G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182983, https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R161Q(c.482G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:adrenalpheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:482 ProteinPosition:161 AminoAcidChange:ARGtoGLN ClinVarID:182983 ClinVarID:Yes MutationType:missense_variant;transition CivicName:R161Q(c.482G>A) NonFamilial inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/19343621/
  17. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identification of a VHL gene mutation in atypical Von Hippel-Lindau syndrome: genotype-phenotype correlation and gene therapy perspective
    1
    1. ClingenBaseline 24 Oct 2026
      Case presentationFirst onsetA 19-years-old female was first found with occupation about 6.2 cm × 5.7 cm in the right adrenal five years ago based on CT scan at a regular physical examination, accompanied with fever and headache with high blood pressure. Tumor resection was performed, and pathological diagnosis was right pheochromocytoma. The patient was regularly subjected to follow-up.Secondary onsetDuring this hospitalization, CT scan found multiple tumor occupation in left adrenal and paraganglion region zones with round nodular shadows. Meanwhile, she had fever and headache with high blood pressure. Based on medical history and examination, she was diagnosed as left pheochromocytoma. Meanwhile, the occupying lesions in right lung and pancreas were found, located in extrabasal segment of inferior lobar and head respectively.Case characteristicsThe case characteristics were summarized: 1. A 12y female; 2. Tumor occupation was first found in right adrenal; 3. Tumor resection was performed and the pathological diagnosis was pheochromocytoma; 4. Multiple round nodular shadows were found in left adrenal and paraganglion region zones after five years; 6. The symptoms were fever and headache with high blood pressure; 7. The diagnosis was pheochromocytoma (PCC) and paraganglioma (PGL) (Combined PPGLs); 8. The occupying lesions located in right lung and pancreas were scanned and diagnosed with masses.Diagnostic methodThe patient was followed up regularly. Based on personal medical history, symptoms and imaging examinations, the patient was diagnosed as PPGLs combined with right lung and pancreas occupation.Multidisciplinary team discussion based on professional board indicated the following views: (1) The diagnosis was possibly considered as atypical VHL type II. Further qualitative diagnosis relied on genetic examination; (2) Other lesions like retina tumor should be examined. (3) PPGLs was surgically resected for pursuing pathological diagnosis. (4) The occupying lesions in right lung and pancreas were performed with puncture biopsy for further diagnosis. The diagnosis and treatment workflow were shown in Fig. 1.

      PatientID: 1 (case)

      KindredID: 1

      Case: F, 19Y0M, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748; HP:0002666; HP:0030445; HP:0030405 (adrenal pheochromocytoma; pheochromocytoma; Pulmonary carcinoid tumor; Pancreatic endocrine tumor)

      CaseHPOFreeText: At 12 years old, a female patient presented with fever and headache with high blood pressure. Upon a CT scan, a right adrenal tumor was detected and tumor resection was performed, revealing a pathological diagnosis of pheochromocytoma. Upon further review, a CT scan found multiple tumors in left adrenal and paraganglion region zones with round nodular shadows. She was diagnosed with pheochromocytoma (PCC) and paraganglioma (PGL). A lung puncture revealed a carcinoid and a pancreatic puncture indicates a neuroendocrine tumor. Left adrenalectomy and PPGL resection was performed and diagnosis was pathologically confirmed

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting:

      PreviouslyPublished: N/A

      SupplementalData: Yes (somatic info)

      Variant: p.R167Q (c.500G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2216, https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/

      CAID: N/A

      gnomAD: 0.000003977, https://gnomad.broadinstitute.org/variant/3-10191507-G-A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: R167Q (c.500G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.3 DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:pheochromocytoma DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:pulmonarycarcinoidtumor AgeOfPresentation:adrenalpheochromocytoma:12 AgeOfPresentation:pancreaticendocrinetumor:12 AgeOfPresentation:pulmonarycarcinoidtumor:12 AgeOfPresentation:pheochromocytoma:12 cDNAposition:500 MutationType:missense_variant;transition AminoAcidChange:ARGtoGLN ProteinPosition:167 CivicName:R167Q(c.500G>A) ClinVarID:2216 ClinVarID:Yes MultipleGeneVariants NoFamilyInfo SupplementalData PreviousTesting:MAX/NF1/RET/SDHB/SDHC/SDHD/SDHAF2 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC8684656/
  18. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Two Childhood Pheochromocytoma Cases due to von Hippel-Lindau Disease, One Associated with Pancreatic Neuroendocrine Tumor: A Very Rare Manifestation
    1
    1. ClingenBaseline 24 Oct 2026
      Case 2This 10 year old girl presented with intermittent fever for the past one month. Her birth history was unremarkable. She was the fourth child of nonconsanguineous parents. Her family history was not significant for tumor occurrence. Physical examination revealed a blood pressure level of 160/100 mmHg (95p: 120/79 mmHg) and a heart rate of 110 beats per minute. Laboratory tests showed an elevated 24 h urinary VMA level of 83 mg/day. Abdominal MRI revealed a 44x33 mm, well circumscribed mass with a necrotic core in the left adrenal gland. Subtotal adrenalectomy was performed and histologic examination showed that the tumor was PCC. During two years of follow-up, a 20x19x12 mm mass was detected in the right adrenal gland on abdominal MRI. PET-computed tomography (CT) with 68Ga-DOTA‐DPhe1, Tyr3‐octreotate (68Ga- DOTATATE) showed increased uptake in the right adrenal gland and a 11x10 mm nodular lesion in the corpus of the pancreas (Figure 2). The tumoral masses in the adrenal gland and pancreas were removed. Histologic investigation of adrenal and pancreas specimens confirmed the diagnosis of PCC and PNET (World Health Organisation grade 3) respectively. One year later, an 8x7 mm lesion in the pancreas, compatible with recurrence, was observed on abdominal MRI and confirmed with 68 Ga-DOTATATE PET-CT. Splenectomy and subtotal pancreatectomy were performed for removal of the lesion. Histologic examination of the pancreatic lesion reported a neuroendocrine tumor. Bilateral PCC with PNET suggested the diagnosis of VHL disease. Molecular genetic analysis of the VHL gene revealed a heterozygous missense mutation c. 386 T>G (p.Leu129Pro) which has been previously described. No additional VHL tumor developed during three years follow up.

      PatientID: 2

      KindredID: 2

      Case: F, 13Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Family history was not significant for tumor occurrence.

      CohortInfo: Two cases of VHL disease in children, who presented with PCC as the first manifestation.

      CasePresentingHPOs: HP:0006748, HP:0030405 (Adrenal pheochromocytoma, pancreatic endocrine tumour)

      CaseHPOFreeText: At age 10, abdominal MRI revealed a 44x33 mm mass with a necrotic core in the left adrenal gland. Subtotal adrenalectomy was performed and histologic examination showed that the tumor was PCC. During two years of follow-up, a 20x19x12 mm mass was detected in the right adrenal gland and a 11x10 mm nodular lesion in the corpus of the pancreas which was found to be a pancreatic endocrine tumour. One year later, the pancreatic endocrine tumour reoccured.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L129P (c.386T>C) *the cDNA change is misrecorded in the paper as 386T>G

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 625242 https://www.ncbi.nlm.nih.gov/clinvar/variation/625242/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: L129P (c.386T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:VHL NonFamilial DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:adrenalpheochromocytoma:10 AgeOfPresentation:adrenalpheochromocytoma:12 AgeOfPresentation:pancreaticendocrinetumor:13 AgeOfPresentation:pancreaticendocrinetumor:12 cDNAposition:386 ProteinPosition:129 AminoAcidChange:LEUtoPRO ClinVarID:625242 MutationType:missense_variant;transition CivicName:L129P(c.386T>C) AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:5542 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5985389/
  19. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Robotic adrenalectomy in the pediatric population: initial experience case series from a tertiary center
    1
    1. ClingenBaseline 24 Oct 2026
      Patient’s father has von Hippel-Lindau disease and had undergone bilateral adrenalectomy for pheochromocytoma and bilateral nephrectomy for renal cell carcinoma. A pathogenic VHL mutation (c.583C > T, p.Q195X) was found in the patient, which was same as the father.

      PatientID: 2

      KindredID: 2

      Case: M, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: This patient is the father of case 2 (patient 1; kindred 2). His son was found to have a right adrenal mass detected by MRI at 13Y0M. His son has the same VHL nonsense mutation.

      CasePresentingHPOs: HP:0006748, HP:0005548 (adrenal pheochromocytoma, renal cell carcinoma )

      CaseHPOFreeText: This patient was previously diagnosed with VHL disease and undergone bilateral adrenalectomy for pheochromocytoma and bilateral nephrectomy for renal cell carcinoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q195* (c.583C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428794, https://www.ncbi.nlm.nih.gov/clinvar/variation/428794/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Q195* (c.583C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:stop_gained AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:renalcellcarcinoma CivicName:Q195*(c.583C>T) cDNAPosition:583 ProteinPosition:195 AminoAcidChange:GLNtoTER Familial ClinVarID:Yes ClinVarID:428794 inferred_gene_hgnc:30832 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7542890/
  20. 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 22 Oct 2026
      214Y4Y20NNNYNC.340G.AExon 1p.Gly114SerMissense

      PatientID: 2

      KindredID: 1

      Case: M, 20Y0M, Brazilian (Latino/Admixed American)

      DiseaseAssertion: VHL

      FamilyInfo: Also belonging to family 1, patients 1 and 3 had VHL diagnoses and phenotypes. Their relation is not clear.

      CasePresentingHPOs: HP:0006748, HP:0002666; HP:0030405; HP:0010797 (adrenal pheochromocytoma, pheochromocytoma, pancreatic endocrine tumor, hemangioblastoma)

      CaseHPOFreeText: The patient developed PPGL at 4Y of age, and a PNET at 20Y: the 4-year-old boy with VHL disease with a history of sudoresis, headache, and abdominal pain. During evaluation, he was diagnosed with hypertension. An abdominal CT scan revealed a 5-cm heterogenous mass in the right adrenal and normal left adrenal glands. This patient underwent a right nodulectomy to preserve normal adrenal tissue. Anatomopathological diagnosis confirmed PHEO. 3 years later was a bilateral recurrence (4-cm right and 1.5-cm left nodules). The patient underwent a right-side adrenalectomy and a left-side nodulectomy. He remained without hormone replacement. After 13 years from the second surgery, the boy presented with a left-side recurrence (1.3-cm nodule) and elevated plasmatic normetanephrine levels; he underwent left-side adrenalectomy.

      CaseNotHPOs: HP:0005584; HP:0009711; HP:0001737; HP:0000107 (renal cell carcinoma, retinal capillary hemangioma, pancreatic cyst, renal cyst)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G114S (c.340G>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 583094 https://www.ncbi.nlm.nih.gov/clinvar/variation/583094/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: G114S (c.340G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:pheochromocytoma DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pancreaticendocrinetumor:20 AgeOfPresentation:adrenalpheochromocytoma:4 AgeOfPresentation:pheochromocytoma:7 ClinVarID:583094 ClinVarID:Yes Familial CivicName:G114S(c.340G>A) cDNAposition:340 ProteinPosition:114 AminoAcidChange:GLYtoSER MutationType:missense_variant;transition Ethnicity:Brazilian Ethnicity:Latino/AdmixedAmerican inferred_gene_hgnc:12762 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6735756/
  21. link.springer.com link.springer.com
    Pheochromocytoma in von hippel-lindau disease: Distinct histopathologic phenotype compared to pheochromocytoma in multiple endocrine neoplasia type 2
    1
    1. ClingenBaseline 22 Oct 2026

      PatientID: 6

      KindredID: 6

      Case: M, 45Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: It is stated that the eight VHL patients were selected from the group of familial VHL patients. Assuming there is family history but no further details were provided. CohortInfo: Eight patients with VHL disease with pheochromocytoma, eight patients with MEN2 and pheochromocytoma, and 10 sporadic patients.

      CasePresentingHPOs: HP:0009711; HP:0006748 (Retinal capillary hemangioma, Adrenal pheochromocytoma)

      CaseHPOFreeText: Diagnosed with VHL type 2A. Right adrenal pheochromocytoma (41Y) and retinal angioma. No metastasis. Last follow-up 4 years after diagnosis.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: Suspected to be, but not mentioned in paper. Paper says, the eight VHL patients were selected from the group of familial VHL patients withknown VHL germline mutations followed on a clinical protocol at the Urologic Oncology Branch, National Cancer Institute, National Institutes of Health (NIH).

      SupplementalData: N/A

      Variant: p.Y112H (c.334T>C)

      LegacyVariant: c.547T>C

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2222, https://www.ncbi.nlm.nih.gov/clinvar/variation/2222/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Authors report variant as “547, T to C”. Assumed to be reported in legacy nomenclature (AF010238.1 (Latif et al.)) and mapped to c.334T>C (NM_000551.3).

      MutationType: missense_variant;transition

      CivicName: Y112H (c.334T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:334 ProteinPosition:112 AminoAcidChange:TYRtoHIS ClinVarID:2222 ClinVarID:Yes MutationType:missense_variant;transition CivicName:Y112H(c.334T>C) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    link.springer.com/article/10.1385/EP:13:1:17
  22. academic.oup.com academic.oup.com
    The Endocrine Society’s 93nd Annual Meeting and Expo, June 4–7, 2011 – Boston
    1
    1. ClingenBaseline 22 Oct 2026
      Endocrine Reviews, Volume 32, Issue Supplement, 1 June 2011, Pages 1–3095, https://doi.org/10.1093/edrv/32.supp.1

      PatientID: 1 (case)

      KindredID: 1

      Case: F, 37Y0M, Ethnicity Unknown

      DiseaseAssertion: adrenal pheochromocytoma

      FamilyInfo: Her one sister had died just after delivery, following a severe hypertensive crisis. Her 26-year-old niece presented with a 3 cm left adrenal tumor, an 8 cm pancreatic tumor and disseminated hepatic metastasis, evolving to death within a few months. Her liver biopsy was compatible with a moderately differentiated neuroendocrine carcinoma of uncertain origin. Molecular diagnosis was not performed in the affected sister and niece. Her asymptomatic 5Y old daughter tested positive for the mutation: Q164R (c.491A<G).

      CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

      CaseHPOFreeText: She first presented with paroxisms of severe hypertension associated with headaches, diaphoresis and, ocasionally, fainting, started one year before. She had had acute pulmonary edema and a cardiorespiratory arrest during her first caesarean section. A CT scan revealed a right adrenal tumor (6.0 cm), showing increased 123I-MIBG uptake. After conventional adrenalectomy, a PHEO was immunohistochemically confirmed. Close follow-up has shown no signs of recurrence or evidence of new tumors.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q164R (c.491A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2238 https://www.ncbi.nlm.nih.gov/clinvar/variation/2238/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: To date, this germline VHL mutation was said to have been described in only 3 cases, with variable phenotypes, and in 2 cases PHEO occurred at a very young age.

      MutationType: missense_variant;transition

      CivicName: N/A

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:37 Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:164 cDNAposition:491 AminoAcidChange:GLNtoARG MutationType:missense_variant;transition CivicName:N/A Familial ClinVarID:2238 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    academic.oup.com/edrv/article/32/Supplement/1/5537041
  23. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Phaeochromocytoma in black South Africans - a 30-year audit
    2
    1. ClingenBaseline 21 Oct 2026

      PatientID: 9

      KindredID: 2

      Case: F, 29Y0M, African/African American

      DiseaseAssertion: VHL

      FamilyInfo: She was 23 weeks pregnant at the time of a pheochromocytoma resection. Her 6-year-old daughter screened positive for the mutation; her 8-year-old son was negative. Both mother (although no testing conducted) and daughter were said to be investigated further and monitored long-term.

      CasePresentingHPOs: HP:0006748; HP:0009713 (adrenal pheochromocytoma; spinal hemangioblastoma)

      CaseHPOFreeText: At the time, the patient was 23 weeks pregnant and had bilateral adrenal phaeochromocytomas removed. There were no clinical features of VHL syndrome; however, MRI showed a haemangioblastoma in the cervical spine.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167W (c.499C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2218, https://www.ncbi.nlm.nih.gov/clinvar/variation/2218/

      CAID: N/A

      gnomAD: 0.000007954, https://gnomad.broadinstitute.org/variant/3-10191506-C-T

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R167W (c.499C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:African Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:499 CivicName:R167W(c.499C>T) MutationType:missense_variant;transition AminoAcidChange:ARGtoTRP ProteinPosition:167 Familial DiseaseEntity:VHL DiseaseEntity:spinalhemangioblastoma DiseaseEntity:adrenalpheochromocytoma ClinVarID:2218 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026

      PatientID: 9

      KindredID: 2

      Case: F, 29Y0M, African/African American

      DiseaseAssertion: VHL

      FamilyInfo: She was 23 weeks pregnant at the time of a pheochromocytoma resection. Her 6-year-old daughter screened positive for the mutation; her 8-year-old son was negative. Both mother (although no testing conducted) and daughter were said to be investigated further and monitored long-term.

      CasePresentingHPOs: HP:0006748; HP:0009713 (adrenal pheochromocytoma; spinal hemangioblastoma)

      CaseHPOFreeText: At the time, the patient was 23 weeks pregnant and had bilateral adrenal phaeochromocytomas removed. There were no clinical features of VHL syndrome; however, MRI showed a haemangioblastoma in the cervical spine.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167W (c.499C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2218, https://www.ncbi.nlm.nih.gov/clinvar/variation/2218/

      CAID: N/A

      gnomAD: 0.000007954, https://gnomad.broadinstitute.org/variant/3-10191506-C-T

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R167W (c.499C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:African Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:499 CivicName:R167W(c.499C>T) MutationType:missense_variant;transition AminoAcidChange:ARGtoTRP ProteinPosition:167 Familial DiseaseEntity:VHL DiseaseEntity:spinalhemangioblastoma DiseaseEntity:adrenalpheochromocytoma ClinVarID:2218 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/21382250/
  24. www.sciencedirect.com www.sciencedirect.com
    Extraneuraxial hemangioblastoma: A clinicopathologic study of 10 cases with molecular analysis of the VHL gene
    2
    1. ClingenBaseline 21 Oct 2026
      R167Q aminoacidic change (the somatic c.500 G > A substitution is marked by a black arrow).

      PatientID: 1

      KindredID: 1

      Case: F, 40Y0M, Caucasian

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006880, HP:0006770, HP:0006748, HP:0001737, HP:0000107, HP:0009713 (Cerebellar hemangioblastoma, Clear cell renal cell carcinoma, Adrenal pheochromocytoma, Pancreatic cysts, Renal cyst, Spinal hemangioblastoma)

      CaseHPOFreeText: The patient was found to have two extraneuraxial hemangioblastomas, the locations of these tumors included intra/paraspinal (extradural) and the nerve roots. Her past medical history included  cerebellar hemangioblastomas, clear cell renal cell carcinoma, an adrenal pheochromocytoma, and cysts in both the   kidney and  pancreas. Clinical symptoms and imaging features include Radicular lumbarpain, lowerlimb paresthesia &weakness/CT, MRI: contrastenhancing masses &erosion of lumbarspine & sacrum.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: Normal kidney.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplemental Digital Content 1. Primer Sequences for VHL gene amplification, LOH and methylation analysis.

      Variant: p.R167Q (c.500G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVar: 2216 https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/

      CAID: CA020454 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.500G%3EA

      gnomAD: 0.000003977 https://gnomad.broadinstitute.org/variant/3-10191507-G-A

      VariantEvidence:N/A

      MutationType: missense_variant;transition

      CivicName: R167Q (c.500G>A) and I151N (c.452T>A)

      MultipleGeneVariants: Germline, VHL, c. 452T>A (p.Ile151Asn)

      MutationType:missense_variant;transition InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:clearcellrenalcellcarcinoma mutation:somatic AssumedRefSeq:NM_000551.3 cDNAposition:500 ProteinPosition:167 AminoAcidChange:ARGtoGLN ClinVarID:2216 CAID:CA020454 NoFamilyInfo MultipleVHLVariants Ethnicity:Caucasian ClinVarID:Yes DiseaseEntity:pancreaticcysts DiseaseEntity:renalcyst DiseaseEntity:spinalhemangioblastoma CivicName:R167Q(c.500G>A)andI151N(c.452T>A) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      R167Q aminoacidic change (the somatic c.500 G > A substitution is marked by a black arrow).

      PatientID: 1

      KindredID: 1

      Case: F, 40Y0M, Caucasian

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006880, HP:0006770, HP:0006748, HP:0001737, HP:0000107, HP:0009713 (Cerebellar hemangioblastoma, Clear cell renal cell carcinoma, Adrenal pheochromocytoma, Pancreatic cysts, Renal cyst, Spinal hemangioblastoma)

      CaseHPOFreeText: The patient was found to have two extraneuraxial hemangioblastomas, the locations of these tumors included intra/paraspinal (extradural) and the nerve roots. Her past medical history included  cerebellar hemangioblastomas, clear cell renal cell carcinoma, an adrenal pheochromocytoma, and cysts in both the   kidney and  pancreas. Clinical symptoms and imaging features include Radicular lumbarpain, lowerlimb paresthesia &weakness/CT, MRI: contrastenhancing masses &erosion of lumbarspine & sacrum.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: Normal kidney.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplemental Digital Content 1. Primer Sequences for VHL gene amplification, LOH and methylation analysis.

      Variant: p.R167Q (c.500G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVar: 2216 https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/

      CAID: CA020454 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.500G%3EA

      gnomAD: 0.000003977 https://gnomad.broadinstitute.org/variant/3-10191507-G-A

      VariantEvidence:N/A

      MutationType: missense_variant;transition

      CivicName: R167Q (c.500G>A) and I151N (c.452T>A)

      MultipleGeneVariants: Germline, VHL, c. 452T>A (p.Ile151Asn)

      MutationType:missense_variant;transition InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:clearcellrenalcellcarcinoma mutation:somatic AssumedRefSeq:NM_000551.3 cDNAposition:500 ProteinPosition:167 AminoAcidChange:ARGtoGLN ClinVarID:2216 CAID:CA020454 NoFamilyInfo MultipleVHLVariants Ethnicity:Caucasian ClinVarID:Yes DiseaseEntity:pancreaticcysts DiseaseEntity:renalcyst DiseaseEntity:spinalhemangioblastoma CivicName:R167Q(c.500G>A)andI151N(c.452T>A) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S0344033818303327
  25. nyaspubs-onlinelibrary-wiley-com.proxy1.lib.uwo.ca nyaspubs-onlinelibrary-wiley-com.proxy1.lib.uwo.ca
    Genetic Analyses of Apparently Sporadic Pheochromocytomas
    2
    1. ClingenBaseline 21 Oct 2026
      33M F NK M A VHL 854insC X > Cys+ 128AA

      PatientID: 33M

      KindredID: 33M

      Case: F, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: None

      CohortInfo: Patients with apparently sporadic pheochromocytomas.

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: The patient had a malignant adrenal pheochromocytoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.*214C(c.641_642insC)

      LegacyVariant: p.X > Cys+ 128AA (c.854insC)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA913189243 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.641_642insC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant

      CivicName: *214C (c.641_642insC)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:AF010238.1 MutationType:plus_1_frameshift_variant DiseaseEntity:VHL NonFamilial DiseaseEntity:adrenalpheochromocytoma cDNAposition:641 ProteinPosition:214 ClinVarID:N/A CAID:CA913189243 CivicName:*214C(c.641_642insC) AminoAcidChange:*toCYS inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      33M F NK M A VHL 854insC X > Cys+ 128AA

      PatientID: 33M

      KindredID: 33M

      Case: F, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: None

      CohortInfo: Patients with apparently sporadic pheochromocytomas.

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: The patient had a malignant adrenal pheochromocytoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.*214C(c.641_642insC)

      LegacyVariant: p.X > Cys+ 128AA (c.854insC)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA913189243 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.641_642insC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant

      CivicName: *214C (c.641_642insC)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:AF010238.1 MutationType:plus_1_frameshift_variant DiseaseEntity:VHL NonFamilial DiseaseEntity:adrenalpheochromocytoma cDNAposition:641 ProteinPosition:214 ClinVarID:N/A CAID:CA913189243 CivicName:*214C(c.641_642insC) AminoAcidChange:*toCYS inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    nyaspubs-onlinelibrary-wiley-com.proxy1.lib.uwo.ca/doi/full/10.1196/annals.1353.014
  26. onlinelibrary-wiley-com.uhn.idm.oclc.org onlinelibrary-wiley-com.uhn.idm.oclc.org
    Metastatic phaeochromocytoma in a 23-year-old woman with an unclassified variant in the von Hippel Lindau disease gene: how can the pathogenicity of this variant be determined?
    2
    1. ClingenBaseline 21 Oct 2026
      The mother, aged 49, had a history of well-controlled hypertension. Supine plasma normetanephrine was elevated (1382 pmol/l, RR <900 pmol/l) whilst plasma metanephrine was normal (117 pmol/l, RR <500 pmol/l). MRI of the brain, spine and abdomen revealed multiple, asymptomatic VHL-associated lesions. These included a spinal haemangioblastoma, bilateral T2-hyperintense adrenal lesions (18 mm and 12 mm), subsequently confirmed to be PCCs, and two pancreatic lesions (11 mm and 16 mm), subsequently confirmed to be grade 1 neuroendocrine tumours.

      PatientID: N/A (mother)

      KindredID: 1

      Case: F, 49Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Prior to her daughter being tested, there was no family history of PCC/paraganglioma (PGL), multiple endocrine neoplasia type 2 (MEN2), neurofibromatosis type 1 (NF1) or VHL. Genetic testing and observation found the mutation (c.361G>C) in her daughter, who also presented with extraadrenal and adrenal pheochromocytoma.

      CasePresentingHPOs: HP:0009713; HP:0006748; HP:0030405 (spinal hemangioblastoma, adrenal pheochromocytoma, pancreatic endocrine tumor)

      CaseHPOFreeText: MRI of the brain, spine and abdomen revealed multiple, asymptomatic VHL-associated lesions. These included a spinal haemangioblastoma, bilateral T2-hyperintense adrenal lesions (18 mm and 12 mm), subsequently confirmed to be PCCs, and two pancreatic lesions (11 mm and 16 mm), subsequently confirmed to be grade 1 neuroendocrine tumours.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: SDHA, SDHB

      SupplementalData: N/A

      Variant: p.D121H (c.361G>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351753752 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.361G%3EC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: D121H (c.361G>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:spinalhemangioblastoma DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:pancreaticendocrinetumor Mutation:Germline AssumedRefSeq:NM_000551.3 CAID:CA351753752 ClinVarID:N/A Familial PreviousTesting:SDHA/SDHB cDNAposition:361 ProteinPosition:121 MutationType:missense_variant;transversion CivicName:D121H(c.361G>C) AminoAcidChange:ASPtoHIS ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      The mother, aged 49, had a history of well-controlled hypertension. Supine plasma normetanephrine was elevated (1382 pmol/l, RR <900 pmol/l) whilst plasma metanephrine was normal (117 pmol/l, RR <500 pmol/l). MRI of the brain, spine and abdomen revealed multiple, asymptomatic VHL-associated lesions. These included a spinal haemangioblastoma, bilateral T2-hyperintense adrenal lesions (18 mm and 12 mm), subsequently confirmed to be PCCs, and two pancreatic lesions (11 mm and 16 mm), subsequently confirmed to be grade 1 neuroendocrine tumours.

      PatientID: N/A (mother)

      KindredID: 1

      Case: F, 49Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Prior to her daughter being tested, there was no family history of PCC/paraganglioma (PGL), multiple endocrine neoplasia type 2 (MEN2), neurofibromatosis type 1 (NF1) or VHL. Genetic testing and observation found the mutation (c.361G>C) in her daughter, who also presented with extraadrenal and adrenal pheochromocytoma.

      CasePresentingHPOs: HP:0009713; HP:0006748; HP:0030405 (spinal hemangioblastoma, adrenal pheochromocytoma, pancreatic endocrine tumor)

      CaseHPOFreeText: MRI of the brain, spine and abdomen revealed multiple, asymptomatic VHL-associated lesions. These included a spinal haemangioblastoma, bilateral T2-hyperintense adrenal lesions (18 mm and 12 mm), subsequently confirmed to be PCCs, and two pancreatic lesions (11 mm and 16 mm), subsequently confirmed to be grade 1 neuroendocrine tumours.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: SDHA, SDHB

      SupplementalData: N/A

      Variant: p.D121H (c.361G>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351753752 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.361G%3EC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: D121H (c.361G>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:spinalhemangioblastoma DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:pancreaticendocrinetumor Mutation:Germline AssumedRefSeq:NM_000551.3 CAID:CA351753752 ClinVarID:N/A Familial PreviousTesting:SDHA/SDHB cDNAposition:361 ProteinPosition:121 MutationType:missense_variant;transversion CivicName:D121H(c.361G>C) AminoAcidChange:ASPtoHIS ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.uhn.idm.oclc.org/doi/full/10.1111/cen.12710
  27. Jul 2026
  28. www.endocrinepractice.org www.endocrinepractice.org
    VHL-Related Neuroendocrine Neoplasms And Beyond: An Israeli Specialized Center Real-Life Report
    1
    1. Vibhor 09 Jul 2026
      16 different families

      PatientID: IX-I

      KindredID: 9

      Case: M, 68Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: No family history reported.

      CasePresentingHPOs: HP:0006748; HP:0002668; HP:0030405; HP:0001737; HP:0006880 (adrenal pheochromocytoma, paraganglioma, pancreatic endocrine tumor, pancreatic cyst, cerebellar hemangioblastoma)

      CaseHPOFreeText: Patient presented with adrenal pheochromocytoma, paraganglioma, pancreatic endocrine tumor, pancreatic cyst, and cerebellar hemangioblastoma at age 55Y0M and was diagnosed with VHL type 2A (see table 2).

      CaseNotHPOs: HP:0000107; HP:0005584 (renal cyst; renal cell carcinoma)

      CaseNotHPOFreeText: Patient negative for renal cell carcinoma and renal cysts.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: complete deletion

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: deletion

      CivicName: NULL (deletion)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:deletion RefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:paraganglioma DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:pancreaticcysts DiseaseEntity:cerebellarhemangioblastoma cDNAPosition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A NoFamilyInfo UnregisteredVariant CivicName:NULL(completedeletion) ClinGen VHL hgnc_imputed:assumed_refseq_tag
    Visit annotations in context

    Tags

    Annotators

    URL

    endocrinepractice.org/article/S1530-891X(20)48218-7/fulltext
  29. Jul 2021
  30. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Rationalization of genetic testing in patients with apparently sporadic pheochromocytoma/paraganglioma
    1
    1. Safa_Ansar 27 Jul 2021

      PatientID: None

      KindredID: 1

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: The proband was part of a cohort of apparently sporadic cases of pheochromocytoma/ paraganglioma, implying this individual had no family history of VHL disease or pheochromocytoma.

      CasePresentingHPOs: HP:0006748 (Adrenal Pheochromocytoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0002668 (Paraganglioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, SDHB, SDHC, and SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: ex. p.R161Q (c.482G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: ex. 182983, https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R161Q(c.482G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:adrenalpheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:482 ProteinPosition:161 AminoAcidChange:ARGtoGLN ClinVarID:182983 ClinVarID:Yes MutationType:missense_variant;transition CivicName:R161Q(c.482G>A) NonFamilial
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/19343621/