18 Matching Annotations
  1. Last 7 days
  2. www.proquest.com www.proquest.com
    A CASE OF PHEOCHROMOCYTOMA ASSOCIATED WITH NEVER REPORTED RARE NEW MUTATION OF VHL GENE - ProQuest
    1
    1. ClingenBaseline 10 Nov 2026
      Case Presentation: A 37 year old Caucasian male with past medical history of HTN who presented with complaints of episodic spells of excessive sweating, mood swing, hypertension, abdominal pain. He also had significant family history in grandmother who had adrenalctomy and his son diagnosed with Hypertension. His urine studies were negative for metanephrines and normetanephrines. CT scan showed 5.5 cm tumor on right adrenal gland and underwent successful right adrenalectomy. Pathology revealed pheochromocytoma. He was followed with biochemical test which were normal. Due to his diagnosis of pheochromocytoma at early age, genetic testing was ordered. Genetic testing showed positive for VHL gene mutation, with variant of p.Glu32Gly, Heterozygous, autosomal dominant considered to be unknown significance by the laboratory. This mutation has not been previously reported in HGMD database, nor in the Broad ExAc dataset indicating it is rare and not well-characterized. He later underwent MRI with contrast of brain, spine, abdomen and pelvis which showed no evidence of other tumors.

      PatientID: N/A (case)

      KindredID: 1

      Case: M, 37Y0M, Ethnicity Unknown

      DiseaseAssertion: adrenal pheochromocytoma

      FamilyInfo: He had significant family history with his grandmother who had an adrenalctomy, and his son diagnosed with Hypertension. No genetic testing was described for them

      CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

      CaseHPOFreeText: 37Y Caucasian male had a medical history of HTN and complained of excessive sweating, mood swing, hypertension, abdominal pain. CT scan showed 5.5 cm tumor on right adrenal gland and underwent successful right adrenalectomy. Pathology revealed pheochromocytoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: He underwent MRI with contrast of brain, spine, abdomen and pelvis which showed no evidence of other tumors.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.E32G (c.95A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 186635 https://www.ncbi.nlm.nih.gov/clinvar/variation/186635/

      CAID: N/A

      gnomAD: 0.00002749 https://gnomad.broadinstitute.org/variant/3-10183626-A-G

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: N/A

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:37 Mutation:Germline RefSeq:NM_000551.3 CivicName:N/A MutationType:missense_variant;transition cDNAposition:95 ProteinPosition:32 AminoAcidChange:GLUtoGLY ClinVarID:186635 ClinVarID:Yes Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    proquest.com/docview/2050601440
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Evaluation of an amplicon-based custom gene panel for the diagnosis of hereditary tumors
    1
    1. ClingenBaseline 09 Nov 2026
      For instance, a patient identified with an SDHD gene mutation actually had von Hippel-Lindau (VHL) syndrome, as determined by the presence of a pathogenic VHL gene variant

      PatientID: 4

      KindredID: 4

      Case: F, 51Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Patient’s mother had duodenal carcinoid and her second son had pheochromocytoma.

      CasePresentingHPOs: (HP:0002666; HP:0030405; HP:0009713 (Pheochromocytoma; pancreatic endocrine tumor; spinal hemangioblastoma)

      CaseHPOFreeText: Patient presented with right pheochromocytoma at 23Y0M and left pheocromoctytoma at 32Y0M, pancreatic endocrine tumor at 32Y0M, and spinal cord hemangioblastoma was suspected.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: BRCA1, BRCA2, TP53, STK11, MLH1, MLH2, MLH6, PMS2, APC, MEN1, RET, NTRK1, PTEN, RB1, SDHD, SDHAF2, SDHC, SDHB, TSC1, TSC2 and WT1 (table 2)

      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: Germline, DHD, c.331G>A (p.Val111Ile); Germline, WT1, c.1249+7G>C (p.?)

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transversion Familial AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pheochromocytoma:23 AgeOfPresentation:pancreaticendocrinetumor:32 ClinVarID:Yes ClinVarID:2224 cDNAPosition:496 ProteinPosition:166 CivicName:V166F(c.496G>T) AminoAcidChange:VALtoPHE PreviousTesting:RET/SDHD/SDHC/SDHB/SDHAF2 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/32241160/
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Outcome and genetic analysis of patients affected by retinal capillary hemangioblastoma in von Hippel Lindau syndrome
    1
    1. ClingenBaseline 09 Nov 2026
      Patient P5 A 32-year-old man accessed the ophthalmic emergency service in 2010. BCVA was 20/32 in OD, and the fundoscopic examination revealed three peripheral RCHs with retinal detachment and a juxtapapillary fibrovascular membrane (Figure 4). Moreover, two small retinal lesions were detected in OS, and BCVA of OS was 20/20. The patient underwent retinal surgery in OS (scleral buckle and transscleral cryotherapy); then, the lesions of both eyes were treated with multiple laser sessions. The CNS imaging revealed the presence of multiple cerebellar and spinal hemangioblastomas. In 2012, cataract surgery was performed in OD. In August 2019, BCVA was 20/20 OU, and regression of all the RCHs was observed.

      PatientID: 5

      KindredID: 3

      Case: M, 41Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: A family pedigree is provided in figure 1. Both the son and daughter of patient 5 were found to have the same mutation. Neither the 10-year-old daughter, nor the 7-year-old son had RCHs or any other tumors.

      CasePresentingHPOs: HP:0006880; HP:0009711; HP:0009713; HP:0000541 (Cerebellar hemangioblastoma; Retinal capillary hemangioma; Spinal hemangioblastoma; Retinal detachment)

      CaseHPOFreeText: Patient had an ophthalmic emergency service in 2010 at age 32Y0M. His visual acuity was 20/32 in the right eye, but fundoscopic examination revealed three peripheral RCHs with retinal detachment. Moreover, two small retinal lesions were detected in the left eye, yet the visual acuity of this eye was 20/20. The patient underwent retinal surgery in the left eye and lesions of both eyes were treated with multiple laser sessions. CNS imaging revealed multiple cerebellar and spinal hemangioblastomas. In 2012, cataract surgery was performed in the right eye. In 2019, visual acuity was 20/20 in both eyes and all the RCHs regressed.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2217, https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      Mutation:Germline InheritancePattern:AutosomalDominant MutationType:stop_gained FamilyPedigree DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:retinaldetachment AgeOfPresentation:retinalcapillaryhemangioma:32 AgeOfPresentation:spinalhemangioblastoma:32 AgeOfPresentation:cerebellarhemangioblastoma:32 AgeOfPresentation:retinaldetachment:32 ClinVarID:2217 ClinVarID:Yes CivicName:R161*(c.481C>T) cDNAPosition:481 ProteinPosition:161 AminoAcidChange:ARGtoTER Familial AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC8416136/
  5. www.liebertpub.com www.liebertpub.com
    VHL Germline Mutations in Argentinian Patients with Clinical Diagnoses or Single Typical Manifestations of Type 1 von Hippel-Lindau Disease
    1
    1. ClingenBaseline 07 Nov 2026
      frameshift mutations (4/16)

      PatientID: 12

      KindredID: 12

      Case: 32Y0M, Sex Unknown, Argentinian

      DiseaseAssertion: VHL

      FamilyInfo: Family history unremarkable; Patient was confirmed to have a de novo mutation.

      CasePresentingHPOs: HP:0010797; HP:0009711; HP:0000107; HP:0030424 (hemangioblastoma; retinal capillary hemangioma; renal cyst; epididymal cyst)

      CaseHPOFreeText: Aged 32Y at diagnosis (genetic testing); fulfils type 1 VHL clinical diagnosis. Retinal hemangioblastomas and CNS hemangioblastomas diagnosed at 32Y, renal cysts were also diagnosed at 32Y, while epididymal cysts were diagnosed first at 23Y (See Table 1 & 2).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V74Sfs*53 (c.219_232delGGTCATCTTCTGCA)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2497423672 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2497423672

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_2_frameshift_variant

      CivicName: V74Sfs*53 (c.219_232delGGTCATCTTCTGCA)

      MultipleGeneVariants: N/A

      Ethnicity:Argentinian DiseaseEntity:VHL Mutation:Germline CAID:CA2497423672 ClinVarID:N/A NonFamilial deNovoConfirmed InheritancePattern:DeNovoAssertion ExperimentalAssay DiseaseEntity:hemangioblastoma DiseaseEntity:epididymalcyst DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcyst AgeOfPresentation:epididymalcyst:23 AgeOfPresentation:hemangioblastoma:32 AgeOfPresentation:retinalcapillaryhemangioma:32 AgeOfPresentation:renalcyst:32 AminoAcidChange:VALtoSER MutationType:minus_2_frameshift_variant cDNAposition:219 ProteinPosition:74 CivicName:V74Sfs*53(c.219_232delGGTCATCTTCTGCA) RefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    liebertpub.com/doi/10.1089/gtmb.2016.0204
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Synonymous but Not Silent: A Synonymous VHL Variant in Exon 2 Confers Susceptibility to Familial Pheochromocytoma and von Hippel-Lindau Disease
    1
    1. ClingenBaseline 05 Nov 2026
      The proband of family 1 (III:3; Fig. 1a), a 32-year-old woman, was diagnosed with a normetanephrine-secreting, 5-cm right PHEO with no other clinical features of VHL disease.

      PatientID: III:3

      KindredID: 1

      Case: F, 32Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Her paternal grandfather (I:1) had been diagnosed with an adrenal tumor and hypertension in his 40s. In addition, four other relatives developed unilateral PHEOs: her father (II:1) at age 73, her 34-year-old brother (III:2), her paternal aunt in her 40s (II:4), and the aunt’s 12-year-old son (III:7). Subsequently, the son of III.7 (IV:3) was also diagnosed with PHEOs at 23 years of age. All affected individuals underwent adrenalectomy and remain asymptomatic, 1 to 30 years after surgery. In addition, a renal cyst was detected in individual III.2 at the time of the PHEO diagnosis, whereas II.1 developed multiple spinal cord hemangioblastomas after the adrenal tumor resection. No RCCs were diagnosed. Other declared diseases in this family are: thyroid nodule and bladder carcinoma but the presenting patient is unclear.

      CohortInfo: Patients with the diagnosis of familial or sporadic PHEO and their relatives.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: Diagnosed with a normetanephrine-secreting, 5-cm right PHEO with no other clinical features of VHL disease.

      CaseNotHPOs: HP:0005584 (Renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Figure 1

      Variant: p.P138= (c.414A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223206, https://www.ncbi.nlm.nih.gov/clinvar/variation/223206/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P138= (c.414A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:32 Mutation:Germline RefSeq:NM_000551.3 cDNAposition:414 ProteinPosition:138 AminoAcidChange:PROtoPRO ClinVarID:223206 ClinVarID:Yes MutationType:missense_variant;transition FamilyPedigree Familial SupplementalData CivicName:P138=(c.414A>G) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6660912/
  7. Nov 2026
  8. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results
    1
    1. ClingenBaseline 03 Nov 2026
      p.Tyr98His

      PatientID: 3

      KindredID: C

      Case: F, 40Y0M, Ethnicity Unknown

      DiseaseAssertion: Hemangioblastoma

      FamilyInfo: Positive: The patient’s sister, one of two brothers, and mother each had the same germline mutation, although without any manifestations. As such, her family history was negative for kidney cancer, hemangioblastoma, or other features of VHL. See Fig. 3.

      CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

      CaseHPOFreeText: In 2013, at 32Y, patient presented with a hemangioblastoma in her cerebellar region.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: No other VHL- related tumors are present in this patient.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes

      Variant: p.P81S (c.241C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2233 https://www.ncbi.nlm.nih.gov/clinvar/variation/2233/

      CAID: N/A

      gnomAD: 0.0002179 https://gnomad.broadinstitute.org/variant/3-10183772-C-T

      VariantEvidence: Immunohistochemistry was positive for Inhibin, and negative for RCC, GFAP, and OLIG2.

      MutationType: missense_variant; transition

      CivicName: P81S (c.241C>T)

      MultipleGeneVariants: Somatic, VHL, c.188_188T>TG (p.Leu63fs*4)

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:cerebellarhemangioblastoma:32 CivicName:P81S(c.241C>T) cDNAposition:241 AminoAcidChange:PROtoSER MutationType:missense_variant;transition ProteinPosition:81 ClinVarID:2233 ClinVarID:Yes SupplementalData Familial FamilyPedigree MultipleVHLVariants inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/34628056/
  9. www-sciencedirect-com.proxy1.lib.uwo.ca www-sciencedirect-com.proxy1.lib.uwo.ca
    Clinical and genetic analysis of patients with pancreatic neuroendocrine tumors associated with von Hippel-Lindau disease
    1
    1. ClingenBaseline 03 Nov 2026
      1132Fnt 688 del A, frameshiftP, 11112+

      PatientID: 11

      KindredID: 1112

      Case: F, 32Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0030405 (Pancreatic endocrine tumor)

      CaseHPOFreeText: The patient presented with one pathologic pancreatic neuroendocrine tumour at age 32. The tumour had metastasized.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.E160Sfs*10(c.477del)

      LegacyVariant:p.E160Sfs*10(c.688delA)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182959 https://www.ncbi.nlm.nih.gov/clinvar/variation/182959/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName:E160fs (c.477del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:AF010238.1 DiseaseEntity:VHL NoFamilyInfo DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pancreaticendocrinetumor:32 cDNAposition:477 ProteinPosition:160 AminoAcidChange:GLUtoSER ClinVarID:182959 ClinVarID:Yes MutationType:minus_1_frameshift_variant CivicName:E160fs(c.477del) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    www-sciencedirect-com.proxy1.lib.uwo.ca/science/article/pii/S0039606000070100
  10. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A malignant pheochromocytoma in a child with von Hippel-Lindau mutation
    1
    1. ClingenBaseline 02 Nov 2026
      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.

      PatientID: None

      KindredID: 1

      Case: F, 38Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo:

      CasePresentingHPOs: HP:0002666; HP:0001028 (Pheochromocytoma, Hemangioma)

      CaseHPOFreeText: 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.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, SDHB, SDHC, SDHD

      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:pheochromocytoma DiseaseEntity:hemangioma AgeOfPresentation:pheochromocytoma:18 AgeOfPresentation:hemangioma:32 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) PreviousTesting:RET/SDHB/SDHC/SDHD Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5536217/
  11. Oct 2026
  12. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Development of synchronous VHL syndrome tumors reveals contingencies and constraints to tumor evolution
    1
    1. ClingenBaseline 29 Oct 2026
      Clinical case reportA 32-year-old male presented with hematuria. Ultrasound demonstrated multiple renal cysts and the initial diagnosis was polycystic kidney disease. However, the cysts enlarged during a surveillance period of one year, leading to computed tomography imaging demonstrating a locally advanced right renal tumor, and two tumors in the left kidney (Figure 1). Further investigation revealed capillary retinal angiomas and hemangiomas of the brain and spine typical of VHL disease, and he was diagnosed with a de novo, germline nonsense mutation in exon 3 of the VHL gene. At the age of 33, the patient underwent a radical right nephrectomy; histopathological examination confirmed a single stage 3, Fuhrman grade 3 ccRCC (pT3aN0M0). Six months later, there was progression in the left kidney and he was treated with partial left nephrectomy to remove both tumors. Both were stage 1 ccRCCs with a maximum Fuhrman grade of 2 (pT1aN0M0). At the time of this report, the patient remains in complete remission.

      PatientID: None

      KindredID: 1

      Case: M, 32Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0000790, HP:0009711, HP:0000107, HP:0009713, HP:0010797, HP:0006770 (hematuria, retinal capillary hemangioma, renal cyst, spinal hemangioblastoma, hemangioblastoma, clear cell renal cell carcinoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R120*(c.358A>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351753732 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.358A%3ET

      gnomAD: N/A

      VariantEvidence: All tumor regions also displayed 3p LOH.

      MutationType: stop_gained

      CivicName: R120*(c.358A>T)

      MultipleGeneVariants: Somatic, VHL, not described

      MutationType:stop_gained Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL NoFamilyInfo DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcyst DiseaseEntity:spinalhemangioblastoma DiseaseEntity:hemangioblastoma DiseaseEntity:clearcellrenalcellcarcinoma AgeOfPresentation:clearcellrenalcellcarcinoma:32 AgeOfPresentation:renalcyst:32 cDNA:358 ProteinPosition:120 CAID:CA351753732 ClinVarID:N/A CivicName:R120*(c.358A>T) MultipleVHLVariants InheritancePattern:DeNovoAssertion AminoAcidChange:ARGtoTER ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4166471/
  13. academic.oup.com academic.oup.com
    Hemangioblastomas of Central Nervous System: Molecular Genetic Analysis and Clinical Management
    1
    1. ClingenBaseline 29 Oct 2026
      In Patient 1, who was 40 years old and had a cerebellar hemangioblastoma, the P86L missense heterozygous germline mutation was identified in exon 1. The DNA analysis of close relatives did not show affected subjects. This patient was recommended for VHL disease surveillance protocols (15) (Table 4) and developed a retinal hemangioblastoma 4 years after diagnosis. TABLE 4.von Hippel-Lindau protocol for periodical clinical monitoring (7) Open in new tab

      PatientID: 1

      KindredID: 1

      Case: M, 40Y0M, Italian

      DiseaseAssertion: VHL

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

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

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

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86L (c.257C>T)

      MultipleGeneVariants: N/A

      Ethnicity:Italian DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:cerebellarhemangioblastoma:32 DiseaseEntity:VHL AgeOfPresentation:retinalcapillaryhemangioma:36 ProteinPosition:86 CivicName:P86L(c.257C>T) cDNAposition:257 AminoAcidChange:PROtoLEU MutationType:missense_variant;transition ClinVarID:182977 ClinVarID:Yes Mutation:Germline AssumedRefSeq:NM_000551.3 NonFamilial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    academic.oup.com/neurosurgery/article-abstract/56/6/1215/2744028
  14. www-sciencedirect-com.uhn.idm.oclc.org www-sciencedirect-com.uhn.idm.oclc.org
    A deletion mutation of the VHL gene associated with a patient with sporadic von Hippel-Lindau disease
    1
    1. ClingenBaseline 26 Oct 2026
      2. Materials and methods2.1. PatientThe 32-year-old male patient was admitted to Xiangya Hospital in 2006 and presented with progressive back and neck pain, and numbness and weakness of both legs which had continued for 1 month followed by fecal and urinary retention for 5 days. The MRI (1.5 Tesla) of the brain and entire spinal cord showed multiple lesions in the cerebellum, brain stem, and spinal cord, which were obviously enhanced and highly suggestive of hemangioblastomas (Fig. 1a–e). Subsequent evaluation, by MRI, of the abdomen revealed a solid kidney tumor (Fig. 1f). He underwent surgical resection for hemangioblastomas of T10 and T12 of the spinal cord, which appeared bright red at surgery. The pathological examination of the tissues showed many small blood vessels, most of which were a capillary plexus. Vascular endothelial cells were flat and distributed within a large number of stromal cells. Some of the vascular endothelial cells formed solid masses and cords. Between the capillary plexus, various forms of stromal cells were found, including nest-like or sheet arrangements with hyperchromatic nuclei, rich cytoplasm, rich lipid vacuoles and rare or no mitoses. Some foam cells and adipose-like cells were also found. Immunohistochemistry of the biopsied tissues from the lesions in the spinal cord were negative on immunostaining (–) for glial fibrillary acidic protein (GFAP), CD68, cytokinin (CK)-pan and epithelial membrane antigen (EMA), but stained positive (+) for factor 8 related antigen (F8RAg). Vascular endothelial cells were F8RAg(+) but stromal cells were F8RAg(–). Vascular endothelial cells and stromal cells were all immunonegative for GFAP, EMA, CK-pan, and CD68 (Fig. 1g, h). The patients’ symptoms resolved after surgery. At 5-year follow-up his condition did not recur or deteriorate, but active surveillance was continued.12Download : Download high-res image (1MB)Download : Download full-size imageFig. 1. Main clinical manifestations of von Hippel-Lindau (VHL) disease. (a) Sagittal T1-weighted MRI of the thoracic spinal cord showing two brightly enhancing nodular lesions with clear boundaries at T10 and T12 (arrows). (b) Sagittal T1-weighted MRI of the cervical spinal cord showing two brightly enhancing nodular lesions with clear boundaries at C5 and C6 (arrows). (c) Sagittal T1-weighted MRI of the cervical spinal cord showing a brightly enhancing nodular lesion with a clear boundary at C2 (arrow). (d) Sagittal T1-weighted MRI of the cranial–cervical region showing three brightly enhancing round lesions with clear boundaries at the posterior of the medulla oblongata, superior spinal cord and basilar part of the pons (arrows). (e) Axial T1-weighted MRI of the brain showing two brightly enhancing nodular lesions with clear boundaries at the posterior of the medulla oblongata and the right cerebellar hemisphere (arrows). (f) Sagittal T1-weighted MRI of the kidney showing the small (1.2 cm × 0.6 cm) enhancing nodular lesion (arrow). (g) Histopathological examination of the lesions at T10 and T12 in the spinal cord of the patient with VHL (hematoxylin and eosin stain, ×400). (h) Immunohistochemistry of the biopsied tissue from the lesions at T10 and T12 in the spinal cord of the patient with VHL (factor 8 related antigen stain, ×400).After genetic counseling, all family members of the patient (his parents, sister, son, sister’s son, brother, and brother’s son) were recruited into this study. His 66-year-old father and 63-year-old mother were both in good health without clinical symptoms of VHL. They did not undergo a whole-body examination, but all other family members underwent clinical examination, including ophthalmoscopy, MRI of the CNS, and ultrasonography of the abdomen, to exclude the disease. Informed consent was obtained from all individuals before their participation in the study.

      PatientID: 1

      KindredID: 1

      Case: M, 39Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: No family history. All 7 of his other family members (his parents, sister, son, sister’s son, brother, and brother’s son) were sequenced and no mutation were found. Additionally, all were healthy members. Suggestive of de novo due to no abnormal changes in the VHL gene of either parent.

      CasePresentingHPOs: HP:0010797; HP:0009713; HP:0006880; HP:0009726 (hemangioblastoma, spinal hemangioblastoma, cerebellar hemangioblastoma, renal neoplasm)

      CaseHPOFreeText: At 32Y this patient presented with progressive back and neck pain and numbness. Patient developed multiple CNS hemangioblastomas (multiple lesions in the cerebellum, brain stem, and spinal cord). Subsequent evaluation of the abdomen revealed a solid kidney tumor (visceral tumor).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.F76del (c.227_229delTCT)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA357012 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.227_229delTCT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: F76del (c.227_229delTCT)

      MultipleGeneVariants: N/A

      deNovoConfirmed InheritancePattern:DeNovoAssertion DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:renalneoplasm AgeOfPresentation:hemangioblastoma:32 AgeOfPresentation:spinalhemangioblastoma:32 AgeOfPresentation:renalneoplasm:32 AgeOfPresentation:cerebellarhemangioblastoma:32 Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:F76del(c.227_229delTCT) cDNAposition:227 ProteinPosition:76 MutationType:inframe_deletion CAID:CA357012 ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    www-sciencedirect-com.uhn.idm.oclc.org/science/article/pii/S096758681200567X
  15. cancerres.aacrjournals.org cancerres.aacrjournals.org
    Telomere Shortening Is Associated with Genetic Anticipation in Chinese Von Hippel–Lindau Disease Families
    1
    1. ClingenBaseline 26 Oct 2026
      c.269A>T p.Asn90Ile

      PatientID: II:3 (proband 4)

      KindredID: 4

      Case: M, 38Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: Patient’s mother (I:1) was found with the same mutation and RCC at 63Y. The proband’s brother (II:1) died before diagnosis; thus no DNA sample available. He presented with hemangioblastoma at 19Y

      CasePresentingHPOs: HP:0010797; HP:0009711 (hemangioblastoma, retinal capillary hemangioma)

      CaseHPOFreeText: patient had hemangioblastoma at 22Y and retinal capillary hemangioma at 32Y

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: N90I (c.269A>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma AgeOfPresentation:hemangioblastoma:22 AgeOfPresentation:retinalcapillaryhemangioma:32 ClinVarID:223172 ClinVarID:Yes ExperimentalAssay Familial FamilyPedigree AssumedRefSeq:NM_000551.3 Mutation:Germline ProteinPosition:90 cDNAposition:269 CivicName:N90I(c.269A>T) AminoAcidChange:ASNtoILE MutationType:missense_variant;transversion inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    cancerres.aacrjournals.org/content/74/14/3802
  16. jmg-bmj-com.uhn.idm.oclc.org jmg-bmj-com.uhn.idm.oclc.org
    Evidence for genetic anticipation in vonHippel-Lindau syndrome
    1
    1. ClingenBaseline 25 Oct 2026

      PatientID: 3 (Father)

      KindredID: 10

      Case: M, 43Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: 2 members of this family presented with the c.712C>T/c.499C>T germline variant of the VHL gene. ID 1 (Proband) was asymptomatic.

      CasePresentingHPOs: HP:0010797; HP:0005584; HP:0009711 (Hemangioblastoma, Renal cell carcinoma, Retinal capillary hemangioma)

      CaseHPOFreeText: This patient presented with CNS hemangioblastoma (32Y), retinal angioma (33Y) and renal cell carcinoma (33Y).

      CaseNotHPOs: HP:0000077; HP:0002666; HP:0001732 (Abnormality of the kidney, Pheochromocytoma, Abnormality of the pancreas)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table 1.

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

      LegacyVariant: c.712C>T

      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?dataset=gnomad_r2_1

      VariantEvidence: A point mutation (c.712C>T) was found. Being that this variant is out of bound with respect to the NM_000551.3 reference sequence, it was concluded that this variant is noted in the Latif et al. (1993) reference and was translated to c.499C>T (NM_000551.3).

      MutationType: missense_variant;transition

      CivicName: R167W (c.499C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:hemangioblastoma:32 AgeOfPresentation:renalcellcarcinoma:33 AgeOfPresentation:retinalcapillaryhemangioma:33 Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:499 ProteinPosition:167 AminoAcidChange:ARGtoTRP ClinVarID:2218 ClinVarID:Yes MutationType:missense_variant;transition CivicName:R167W(c.499C>T) Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    jmg-bmj-com.uhn.idm.oclc.org/content/55/6/395
  17. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype-phenotype correlations in Chinese von Hippel–Lindau disease patients
    2
    1. ClingenBaseline 25 Oct 2026

      PatientID: 98

      KindredID: 33

      Case: M, 43Y0M, Chinese

      DiseaseAssertion: VHL

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

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

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

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

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

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

      Variant: p.P97Afs*35 (c.287_288insA)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

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

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant

      CivicName: P97Afs*35 (c.287_288insA)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma DiseaseEntity:abnormalityofthepancreas DiseaseEntity:pancreaticcysts AgeOfPresentation:retinalcapillaryhemangioma:32 AgeOfPresentation:renalcellcarcinoma:43 AgeOfPresentation:pancreaticcysts:43 AgeOfPresentation:abnormalityofthepancreas:43 MutationType:plus_1_frameshift_variant ClinVarID:N/A CAID:CA432420510 cDNAposition:287 ProteinPosition:97 AminoAcidChange:PROtoALA CivicName:P97Afs*35(c.287_288insA) Familial SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 23 Oct 2026

      PatientID: 217

      KindredID: 81

      Case: F, 33Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The proband's brother had the same germline mutation, and presented with a CNS hemangioblastoma at 20, and a pheochromocytoma at 26. The proband's mother had a CNS hemangioblastoma at 35, however no genotyping information is available for her.

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

      CaseHPOFreeText: The patient presented with a CNS hemangioblastoma at age 24, renal cell carcinoma at 32, and multiple pancreatic cysts/tumors at 33.

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

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

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

      Variant: p.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: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R167Q (c.500G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts DiseaseEntity:hemangioblastoma DiseaseEntity:abnormalityofthepancreas AgeOfPresentation:abnormalityofthepancreas:33 AgeOfPresentation:pancreaticcysts:33 AgeOfPresentation:renalcellcarcinoma:32 AgeOfPresentation:hemangioblastoma:24 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:500 ProteinPosition:167 AminoAcidChange:ARGtoGLN ClinVarID:2216 ClinVarID:Yes MutationType:missense_variant;transition CivicName:R167Q(c.500G>A) Familial SupplementalData PreviouslyPublished:29330336 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5503545/
  18. academic.oup.com academic.oup.com
    Molecular Dissection of the VHL Gene in Solitary Capillary Hemangioblastoma of the Central Nervous System
    1
    1. ClingenBaseline 23 Oct 2026
      HGB-19 B/T Germline 2 2 c.341 G > T G114V This study R No  

      PatientID: HGB-19

      KindredID: 4

      Case: Sex Unknown, 44Y0M, Italian

      DiseaseAssertion: VHL

      FamilyInfo: None.

      CohortInfo: The patient cohort consisted of 57 patients (26 male and 31 female) from Southern Italy, most of whom (55 of 57) presented with solitary HGB of the CNS: 6 were syndromic and 51 were apparently sporadic.

      CasePresentingHPOs: HP:0006880, HP:0009713 (cerebellar hemangioblastoma, spinal hemangioblastoma)

      CaseHPOFreeText: The patient had a single cerebellar hemangioblastoma that was diagnosed at age 32. The patient had a spinal cord hemangioblastoma at age 40.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G114V(c.341G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351753604 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.341G%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: G114V (c.341G>T)

      MultipleGeneVariants: N/A

      MutationType:missense_variant;transversion InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.3 Ethnicity:Italian DiseaseEntity:VHL NonFamilial DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:spinalhemangioblastoma AgeOfPresentation:cerebellarhemangioblastoma:32 AgeOfPresentation:spinalhemangioblastoma:40 cDNAposition:341 ProteinPosition:114 AminoAcidChange:GLYtoVAL ClinVarID:N/A CAID:CA351753604 CivicName:G114V(c.341G>T) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    academic.oup.com/jnen/article/73/1/50/2917595
  19. 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
    1
    1. 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
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    ncbi.nlm.nih.gov/pmc/articles/PMC2690424/
  20. academic.oup.com academic.oup.com
    VHL mutation analysis in patients with isolated central nervous system haemangioblastoma
    1
    1. ClingenBaseline 21 Oct 2026
      B1 Spinal 28 c.582_589delGACACAC N/A 5 y 10 m 

      PatientID: B1

      KindredID: 1

      Case: Sex Unknown, 28Y0M, Ethnicity Unknown

      DiseaseAssertion: Assumed VHL

      FamilyInfo: No testing

      CasePresentingHPOs: HP:0009713, HP:0000107, HP:0001737 (spinal hemangioblastoma, renal cyst, pancreatic cyst)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: no other clinical features were found after the cerebellar hemangioblastoma during 5 years 10 months of follow-up

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.T124Mfs*33 (c.369_375del)

      LegacyVariant: c.582_589delGACACAC

      ClinVarID: N/A

      CAID: CA913189240 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.369_375del

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: T124Mfs*33(c.369_375del)

      MultipleGeneVariants: N/A

      MutationType:minus_1_frameshift_variant InheritancePattern:AutosomalDominant DiseaseEntity:spinalhemangioblastoma DiseaseEntity:VHL DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts AgeOfPresentation:spinalhemangioblastoma:28 AgeOfPresentation:renalcyst:32 AgeOfPresentation:pancreaticcyst:32 Mutation:Germline RefSeq:AF010238.1 cDNAposition:369 ProteinPosition:124 AminoAcidChange:THRtoMET ClinVarID:N/A CAID:CA913189240 CivicName:T124Mfs*33(c.369_375del) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    academic.oup.com/brain/article/130/3/836/278946