5 Matching Annotations
  1. Last 7 days
  2. pubmed-ncbi-nlm-nih-gov.proxy1.lib.uwo.ca pubmed-ncbi-nlm-nih-gov.proxy1.lib.uwo.ca
    Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma
    1
    1. ClingenBaseline 03 Nov 2026

      PatientID: V48

      KindredID: V48

      Case: Sex Unknown, Age Unknown, French

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Diagnosed with VHL Type 1.

      CaseNotHPOs: HP:0002666 (Pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.H115Q (c.345C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 496058, https://www.ncbi.nlm.nih.gov/clinvar/variation/496058/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: H115Q (c.345C>G)

      MultipleGeneVariants: N/A

      Ethnicity:French InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:345 ProteinPosition:115 AminoAcidChange:HIStoGLN ClinVarID:496058 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:H115Q(c.345C>G) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed-ncbi-nlm-nih-gov.proxy1.lib.uwo.ca/9829912/
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Solitary juxtapapillary capillary retinal angioma and von Hippel-Lindau disease
    1
    1. ClingenBaseline 01 Nov 2026

      PatientID: 8

      KindredID: 3

      Case: Sex Unknown, 9Y3M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Positive VHL family history.

      CasePresentingHPOs: HP:0009711, HP:0009715, HP:0010797, HP:0002666, HP:0005584 (retinal capillary hemangioma, papillary cystadenoma of the epididymis, hemangioblastoma, pheochromocytoma, renal cell carcinoma)

      CaseHPOFreeText: At first presentation (age 5Y6M) the patient had a visual acuity of 20/125. The retinal angioma showed an endophytic growth pattern and was located in the temporal disc margin. Before age 5, the patient had experienced epidydimal cystadenoma and hemangioblastoma of the central nervous system. Either at first presentation or on follow-up the patient presented with renal cell carcinoma, pheochromocytoma, and hemangioblastoma of the CNS.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.H115R (c.344A>G)

      LegacyVariant: p.H115R (c.557A>G)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 664415 https://www.ncbi.nlm.nih.gov/clinvar/variation/664415/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: H115R (c.344A>G)

      MultipleGeneVariants: N/A

      MutationType:missense_variant;transition InheritancePattern:AutosomalDominant DiseaseEntity:VHL Familial DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:papillarycystadenomaoftheepididymis DiseaseEntity:hemangioblastoma DiseaseEntity:pheochromocytoma DiseaseEntity:renalcellcarcinoma AgeOfPresentation:RetinalCapillaryHemangioma:5 Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:344 ProteinPosition:115 AminoAcidChange:HIStoARG ClinVarID:664415 ClinVarID:Yes CivicName:H115R(c.344A>G) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/17392848/
  4. Oct 2026
  5. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Family history of von Hippel–Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients
    1
    1. ClingenBaseline 29 Oct 2026
      probands

      PatientID: 4

      KindredID: 4

      Case: Sex Unknown, 45Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: Patient had no family history of VHL disease.

      CohortInfo: 16 Chinese patients clinically diagnosed with VHL disease.

      CasePresentingHPOs: HP:0010797; HP:0005584; HP:0001732 (hemangioblastoma; renal cell carcinoma; abnormality of the pancreas

      CaseHPOFreeText: The patient presented with a hemangioblastoma at age 34, as well as renal cell carcinoma and abnormality of the pancreas at age 44.

      CaseNotHPOs: HP:0009711, HP:0002666, HP:0030393 (retinal capillary hemangioma, pheochromocytoma, endolymphatic sac tumor)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.H115R (c.344A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA70049376, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.344A%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: H115R (c.344A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:NM_000551.3 Ethnicity:Chinese NoFamilyInfo DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:abnormalityofthepancreas AgeOfPresentation:hemangioblastoma:34 AgeOfPresentation:renalcellcarcinoma:44 AgeOfPresentation:abnormalityofthepancreas:44 ClinVarID:N/A CAID:CA70049376 cDNAPosition:344 ProteinPosition:115 AminoAcidChange:HIStoARG inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/22357542/
  6. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil
    1
    1. ClingenBaseline 25 Oct 2026
      91Yes3111––344 del A2Frameshift at aa 115hFrameshiftNovel

      GroupID: None

      KindredID:9

      DiseaseAssertion: VHL

      GroupSize: 3

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: American Admixed/Latino

      GroupAgeRange: N/A

      GroupInfo: Three members of a South American family expressed this c.344delA mutation.

      GroupPresentingHPOs: HP:0010797, HP:0009711, HP:0005584 (hemangioblastoma, retinal capillary hemangioma, renal cell carcinoma)

      GroupHPOFreeText: N/A

      GroupNotHPOs: HP:0002894, HP:0002666 (neoplasm of the pancreas, pheochromocytoma )

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.H115Pfs*44 (c.344delA)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID:N/A

      CAID: CA70049370 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.344delA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: H115Pfs*44(c.344delA) and P61=(c.183C>G)

      MultipleGeneVariants: Germline, VHL,c.c.183C>G (p.Pro61Pro)

      ClinVarID:N/A InheritancePattern:AutosomalDominant Familial Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma cDNAposition:344 ProteinPosition:115 AminoAcidChange:HIStoPRO CAID:CA70049370 MultipleVHLVariants MutationType:minus_1_frameshift_variant Ethnicity:AmericanAdmixed/Latino FamilyCohort CivicName:H115Pfs*44(c.344delA)andP61=(c.183C>G) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/12624160/
  7. link.springer.com link.springer.com
    Conservative management of endolymphatic sac tumors in von Hippel–Lindau disease: case report
    1
    1. ClingenBaseline 22 Oct 2026
      Patient 2 The second patient had a familial history of VHL disease but had never been screened for central nervous system manifestations when she experienced a sudden left hearing loss at 18 years old. The MRI revealed a left mass of the temporal bone invading the otic capsule but without extension in the cerebellopontine angle (Fig. 1) and also a cystic hemangioblastoma of the brainstem with significant mass burden but no associated symptoms. It was decided to operate on the hemangioblastoma first due to its size and location and the endolymphatic sac tumor remained under surveillance. The MTD of the endolymphatic sac tumor at diagnosis was 1.9 cm. Apart from central nervous systems hemangioblastomas, the patient developed pancreatic cysts in the course of her VHL disease. The germline mutation of the VHL gene was also identified (c.345C>G, p.His115Gln). During 18 years of surveillance, the tumor increased in size following a two-phase growth pattern alternating phases of quiescence and phases of continuous growth (Fig. 2). Apart from her left cophosis, she did not suffer from any vestibular symptoms and the rest of her neurological exam remained normal. As tumor did not develop in the cerebellopontine angle and did not threaten the brainstem, it was decided to postpone surgery and the patient remains under surveillance.

      PatientID: 2

      KindredID: 2

      Case: F, 36Y0M, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: familial history of VHL disease

      CasePresentingHPOs: HP:0030393; HP:0010797; HP:0001737 (endolymphatic sac tumor, hemangioblastoma, pancreatic cysts)

      CaseHPOFreeText: at 18Y experienced a sudden left hearing loss (MRI revealed hemangioblastomas of the temporal bone invading the otic capsule; operated on; the MTD of the endolymphatic sac tumor at diagnosis was 1.9 cm). The patient also developed pancreatic cysts.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.H115Q (c.345C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 496058 https://www.ncbi.nlm.nih.gov/clinvar/variation/496058/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: H115Q (c.345C>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL InheritancePattern:AutosomalDominant DiseaseEntity:endolymphaticsactumor DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts AgeOfPresentation:endolymphaticsactumor:18 AminoAcidChange:HIStoGLN ProteinPosition:115 cDNAposition:345 ClinVarID:496058 ClinVarID:Yes Familial MutationType:missense_variant;transversion CivicName:H115Q(c.345C>G) Mutation:Germline AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s00701-010-0873-5