3 Matching Annotations
  1. Last 7 days
  2. link.springer.com link.springer.com
    Retinal angiomatosis and von Hippel-Lindau disease
    1
    1. ClingenBaseline 31 Oct 2026

      PatientID: None (Proband)

      KindredID: 24

      Case: F, 14Y0M, EthnicityUnknown

      DiseaseAssertion: VHL

      FamilyInfo: 2/3 genetically tested individuals from a family with no family history of VHL disease were found to harbor the c.492G>T mutation causing a Gln164His missense variant (noted in the paper as c.705G>T due to Latif reference transcript being used). The proband presented with retinal capillary hemangioma and the other had unremarkable ophthalmoscopic findings (27Y, brother). The proband’s sister was negative for the variant.

      CasePresentingHPOs: HP:0009711 (Retinal capillary hemangioma)

      CaseHPOFreeText: Patient had a clinical diagnosis of VHL disease. Presented with vision loss due to a single juxtapapillary angioma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: Paper states that further screening did not find any other VHL lesion.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q164H (c.492G>T)

      LegacyVariant: c.705G>T

      CaseProblemVariantFreeText: N/A

      ClinVarID: 456566, https://www.ncbi.nlm.nih.gov/clinvar/variation/456566/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: Q164H (c.492G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:492 ProteinPosition:164 AminoAcidChange:GLNtoHIS ClinVarID:456566 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:Q164H(c.492G>T) FamilyPedigree Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    URL

    link.springer.com/article/10.1007/s004170000200
  3. www.sciencedirect.com www.sciencedirect.com
    Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease
    1
    1. ClingenBaseline 30 Oct 2026
      F6

      PatientID: None (Father)

      KindredID: F6

      Case: M, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Asymptomatic

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q164H (c.492G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 456566, https://www.ncbi.nlm.nih.gov/clinvar/variation/456566/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: Q164H (c.492G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:Asymptomatic Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:492 ProteinPosition:164 AminoAcidChange:GLNtoHIS ClinVarID:456566 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:Q164H(c.492G>T) FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    sciencedirect.com/science/article/pii/S0006497120320206
  4. Oct 2026
  5. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Solitary juxtapapillary capillary retinal angioma and von Hippel-Lindau disease
    1
    1. ClingenBaseline 29 Oct 2026

      PatientID: 5

      KindredID: 1

      Case: Sex Unknown, 15Y10M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: None.

      CasePresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      CaseHPOFreeText: At first presentation (age 14Y3M) the patient had a visual acuity of 20/200. The angioma showed an exophytic growth pattern and was located in the inferior disc margin.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: Medical screening for other VHL lesions comprised magnetic resonance imaging (MRI) of the brain and spinal cord (gadolinium-enhanced), urine catecholamines, and abdominal sonography or computed tomography (CT). No VHL lesions present other than the retinal angioma reported.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q164H (c.492G>T)

      LegacyVariant: p.Q164H (c.705G>T)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 456566 https://www.ncbi.nlm.nih.gov/clinvar/variation/456566/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: Q164H (c.492G>T)

      MultipleGeneVariants: N/A

      MutationType:missense_variant;transversion DiseaseEntity:VHL NonFamilial DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:RetinalCapillaryHemangioma:14 Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:492 ProteinPosition:164 AminoAcidChange:GLNtoHIS ClinVarID:456566 ClinVarID:Yes CivicName:Q164H(c.492G>T) InheritancePattern:AutosomalDominant inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/17392848/