2 Matching Annotations
  1. Last 7 days
  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Germline mutations in the von Hippel–Lindau disease tumor suppressor gene: Correlations with phenotype
    2
    1. ClingenBaseline 21 Oct 2026

      GroupID: 4480

      DiseaseAssertion: assumed VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Familial VHL stated; 2 family members recorded with this mutation.

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

      GroupHPOFreeText: both (2) members had CNS hemangioblastoma, and 1 member had retinal angioma (hemangioma)

      GroupNotHPOs: HP:0002666; HP:0005584 (pheochromocytoma, renal cell carcinoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V166D (c.497T>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.L237D (c.710T>A)

      ClinVarID: 625254 https://www.ncbi.nlm.nih.gov/clinvar/variation/625254/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: V166D (c.497T>A)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma Mutation:Germline RefSeq:AF010238.1 ClinVarID:Yes ClinVarID:625254 InheritancePattern:AutosomalDominant Familial FamilyCohort CivicName:V166D(c.497T>A) ProteinPosition:166 cDNAposition:497 AminoAcidChange:VALtoASP MutationType:missense_variant;transversion inferred_gene_hgnc:5542 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026

      GroupID: 4480

      DiseaseAssertion: assumed VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Familial VHL stated; 2 family members recorded with this mutation.

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

      GroupHPOFreeText: both (2) members had CNS hemangioblastoma, and 1 member had retinal angioma (hemangioma)

      GroupNotHPOs: HP:0002666; HP:0005584 (pheochromocytoma, renal cell carcinoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V166D (c.497T>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.L237D (c.710T>A)

      ClinVarID: 625254 https://www.ncbi.nlm.nih.gov/clinvar/variation/625254/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: V166D (c.497T>A)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma Mutation:Germline RefSeq:AF010238.1 ClinVarID:Yes ClinVarID:625254 InheritancePattern:AutosomalDominant Familial FamilyCohort CivicName:V166D(c.497T>A) ProteinPosition:166 cDNAposition:497 AminoAcidChange:VALtoASP MutationType:missense_variant;transversion inferred_gene_hgnc:5542 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1002/humu.1380050109