8 Matching Annotations
  1. Last 7 days
  2. jnnp.bmj.com jnnp.bmj.com
    The impact of molecular genetic analysis of theVHL gene in patients with haemangioblastomas of the central nervous system
    2
    1. ClingenBaseline 04 Nov 2026
      nt 437 Del.TCT* 76 Del.Phe 437del3 In-frame del 2

      A cohort of 141 patients with hemangioblastomas of the central nervous system was analyzed. 81 patients had germline mutations in the VHL gene, analyzed through peripheral blood by Southern blotting and SSCP analysis. This inframe mutation (c.224_226delTCT) was recorded in the paper as c.437delTCT due to a difference in transcript sequence. It was found in 2 patients with hemangioblastomas of the central nervous system. Any relation between patients is unknown. No other phenotypes described.

      EvidenceStatement ClinVarID:223166 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 30 Oct 2026
      nt 437 Del.TCT* 76 Del.Phe 437del3 In-frame del 2

      GroupID: 6

      DiseaseAssertion: hemangioblastoma

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: 2 out of the 81 patients listed in this hemangioblastoma cohort were found with this c.224delTCT mutation. Any relation is unknown.

      GroupPresentingHPOs: HP:0010797 (hemangioblastoma)

      GroupHPOFreeText: both patients had hemangioblastoma of the CNS; other phenotypes are unknown.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.F76del (c.224_226delTCT)

      LegacyVariant: Del. Phe (c.437delTCT)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223166 https://www.ncbi.nlm.nih.gov/clinvar/variation/223166/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: F76del (c.224_226delTCT)

      MultipleGeneVariants: N/A

      DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:AF010238.1 ClinVarID:223166 ClinVarID:Yes NoFamilyInfo ProteinPosition:76 MutationType:inframe_deletion cDNAposition:224 CivicName:F76del(c.224_226delTCT) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    jnnp.bmj.com/content/jnnp/67/6/758.full.pdf
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease
    2
    1. ClingenBaseline 04 Nov 2026
      p.F76del

      PatientID: None (III)

      KindredID: 1

      Case: Sex and Ethnicity unknown; Age >18Y0M

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: Total of 4 family members belonging to Family 1 (see Table 2; or follow KindredID 1)

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: 4 HB at first screening, and same by final screening (5 year follow up).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 16572651

      SupplementalData: N/A

      Variant: p.F76del (c.227_229del)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 223166 https://www.ncbi.nlm.nih.gov/clinvar/variation/223166/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: p.F76del

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:76 CivicName:p.F76del cDNAposition:227 ClinVarID:223166 ClinVarID:Yes Familial MutationType:inframe_deletion inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 02 Nov 2026
      p.F76del

      PatientID: None (II)

      KindredID: 1

      Case: Sex and Ethnicity unknown; Age >18Y0M

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: Total of 4 family members belonging to Family 1 (see Table 2; or follow KindredID 1)

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: 3 HB at first screening, and same by final screening (5 year follow up).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 16572651

      SupplementalData: N/A

      Variant: p.F76del (c.227_229del)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 223166 https://www.ncbi.nlm.nih.gov/clinvar/variation/223166/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: p.F76del

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:76 CivicName:p.F76del ClinVarID:Yes cDNAposition:227 ClinVarID:223166 Familial MutationType:inframe_deletion inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC2822817/
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Von Hippel-Lindau disease germline mutations in Mexican patients with cerebellar hemangioblastoma
    1
    1. ClingenBaseline 02 Nov 2026
      Ninety-eight individuals were tested for VHL mutations--23 symptomatic and 75 asymptomatic individuals belonging to 16 families. Seven of the families had definite clinical criteria of VHL disease, five had sporadic hemangioblastoma, and four had CNS hemangioblastoma combined with minor visceral signs. Molecular genetic testing identified five germline mutations in six of the definite VHL families (sensitivity 85%), but none in the possible VHL and sporadic hemangioblastoma cases; four of these mutations had been previously described and one is a novel mutation present in two unrelated families. After patients carrying the mutation were identified, they underwent clinical screening and asymptomatic VHL-related lesions were identified in 43%.

      PatientID: 4

      KindredID: A

      Case: Sex Unknown, 11Y0M, Mexican (Latino/Admixed American)

      DiseaseAssertion: asymptomatic

      FamilyInfo: three other symptomatic members of family A had this mutation. The symptomatic individuals all had cerebellar hemangioblastomas, as well as spinal hemangioblastomas and renal cysts.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: asymptomatic at 11Y, could be due to patient’s young age

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 20064270

      SupplementalData: N/A

      Variant: p.F76del (c.227_229del)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 223166 https://www.ncbi.nlm.nih.gov/clinvar/variation/223166/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: F76del (c.227_229del)

      MultipleGeneVariants: N/A
      InheritancePattern:AutosomalDominant Ethnicity:Mexican Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:asymptomatic MutationType:inframe_deletion ProteinPosition:76 cDNAposition:227 CivicName:F76del(c.227_229del) ClinVarID:223166 ClinVarID:Yes Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/16572651/
  5. Oct 2026
  6. journals-lww-com.proxy1.lib.uwo.ca journals-lww-com.proxy1.lib.uwo.ca
    PHOTODYNAMIC THERAPY AND VITRECTOMY FOR A LARGE OPTIC NERVE ... : Retinal Cases and Brief Reports
    2
    1. ClingenBaseline 29 Oct 2026
      A 14-year-old boy was referred for an optic nerve mass with surrounding subretinal edema. His medical history and family history were unremarkable. Best-corrected vision was 20/30 in the right eye and 20/20 in the left eye. Examination was remarkable for a large retinal capillary hemangioma that covered the inferior one half of the optic nerve and extended below the nerve in the right eye (Fig. 1A). Subretinal fluid surrounded the optic nerve, and a small amount of secondary neovascularization and retinal traction was present. The patient was diagnosed with a peripapillary hemangioblastoma and scheduled for magnetic resonance imaging (MRI) of the brain and spine to rule out a central nervous system hemangioblastoma. Unfortunately, the patient did not undergo MRI and was lost to follow-up.

      PatientID: None

      KindredID: 1

      Case: M, 15Y0M, Ethnicity Unknown

      DiseaseAssertion: Retinal Capillary Hemangioma

      FamilyInfo: N/A at the time of the study the patient's family members were in the process of being evaluated for VHL.

      CasePresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      CaseHPOFreeText: At age 14, examination was remarkable for a large retinal capillary hemangioma that covered the inferior one half of the optic nerve and extended below the nerve in the right eye. The patient returned 16 months later with vision decreased to 20/100 in the right eye. The hemangioblastoma had increased in size clinically. It was associated with a large inferior exudative retinal detachment, which also had a significant tractional component from extensive secondary neovascularization over the lesion. Ten days postoperatively, the patient's vision decreased to 20/200 in the right eye, and subretinal hemorrhage was present around the nerve. Two weeks postoperatively, the retinal detachment progressed to involve the macula, again with both exudative and tractional components.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.F76del (c.227_229del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223166 https://www.ncbi.nlm.nih.gov/clinvar/variation/223166/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: F76del (c.227_229del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant AssumedRefSeq:NM_000551.3 Mutation:Germline AgeOfPresentation:RetinalCapillaryHemangioma:14 DiseaseEntity:retinalcapillaryhemangioma NoFamilyInfo cDNAposition:227 ProteinPosition:76 AminoAcidChange:N/A ClinVarID:223166 ClinVarID:Yes MutationType:inframe_deletion CivicName:F76del(c.227_229del) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 27 Oct 2026
      Genetic testing showed that the patient was heterozygous for a deletion of three bases (TTC) in exon 1 of the von Hippel-Lindau gene. This is similar to the genetic findings of Patel et al2 for a patient with a macular hemangioblastoma. The mutation spans two codons, resulting in in-frame loss of a phenylalanine at codon 76.

      A case study of a 14Y boy was found with a juxtapapillary retinal hemangioblastoma and secondary neovascularization. 16 months later, genetic analysis revealed an in-frame mutation in the VHL gene (p.Phe76del). The patient and his family was still being investigated for other manifestations during the time of the publication.

      EvidenceStatement ClinVarID:223166 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    journals-lww-com.proxy1.lib.uwo.ca/retinalcases/fulltext/2009/00310/photodynamic_therapy_and_vitrectomy_for_a_large.30.aspx
  7. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease
    1
    1. ClingenBaseline 26 Oct 2026
      1p.F76del>18YAffected3 Hb, KC+ PC

      PatientID: None (I)

      KindredID: 1

      Case: Sex and Ethnicity unknown; Age >18Y0M

      DiseaseAssertion: assumed VHL

      FamilyInfo: Total of 4 family members belonging to Family 1 (see Table 2; or follow KindredID 1)

      CasePresentingHPOs: HP:0010797; HP:0000107; HP:0001737 (hemangioblastoma, renal cyst, pancreatic cysts)

      CaseHPOFreeText: 3 HB, 1 kidney cyst at first screening, as well as now pancreatic cyst at final screening (5 year follow up).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 16572651

      SupplementalData: N/A

      Variant: p.F76del (c.227_229del)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 223166 https://www.ncbi.nlm.nih.gov/clinvar/variation/223166/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: p.F76del

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:hemangioblastoma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts Mutation:Germline AssumedRefSeq:NM_000551.3 MutationType:inframe_deletion CivicName:p.F76del ClinVarID:223166 ClinVarID:Yes cDNAposition:227 Familial ProteinPosition:76 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC2822817/