2 Matching Annotations
  1. Last 7 days
  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype-phenotype correlation in von Hippel-Lindau disease
    2
    1. ClingenBaseline 21 Oct 2026
      2 (66.7)

      GroupID: 14a

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: a retrospective cohort study from an eye centre in Germany involved 148 VHL patients and their genetic data involved in retinal capillary hemangiomas.

      GroupPresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      GroupHPOFreeText: These 2/3 patients with a Q164* (c.490C>T) mutation had retinal capillary hemangiomas. Other VHL manifestations were discussed but not per- variant.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q164* (c.490C>T)

      LegacyVariant: N/A

      GroupProblemVariantFreeText: N/A

      ClinVarID: 223228 https://www.ncbi.nlm.nih.gov/clinvar/variation/223228/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Q164* (c.490C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:164 CivicName:Q164*(c.490C>T) cDNAposition:490 MutationType:stop_gained AminoAcidChange:GLNtoTER ClinVarID:223228 ClinVarID:Yes SupplementalData DiseaseEntity:VHL NoFamilyInfo DiseaseEntity:retinalcapillaryhemangioma inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      2 (66.7)

      GroupID: 14a

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: a retrospective cohort study from an eye centre in Germany involved 148 VHL patients and their genetic data involved in retinal capillary hemangiomas.

      GroupPresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      GroupHPOFreeText: These 2/3 patients with a Q164* (c.490C>T) mutation had retinal capillary hemangiomas. Other VHL manifestations were discussed but not per- variant.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q164* (c.490C>T)

      LegacyVariant: N/A

      GroupProblemVariantFreeText: N/A

      ClinVarID: 223228 https://www.ncbi.nlm.nih.gov/clinvar/variation/223228/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Q164* (c.490C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:164 CivicName:Q164*(c.490C>T) cDNAposition:490 MutationType:stop_gained AminoAcidChange:GLNtoTER ClinVarID:223228 ClinVarID:Yes SupplementalData DiseaseEntity:VHL NoFamilyInfo DiseaseEntity:retinalcapillaryhemangioma inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1111/aos.14843