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 05 Nov 2026
      2 (50)

      GroupID: 24a

      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 2/4 patients with a P86H (c.257C>A) 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.P86H (c.257C>A)

      LegacyVariant: N/A

      GroupProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351750632 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.257C>A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: P86H (c.257C>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:VHL SupplementalData NoFamilyInfo AminoAcidChange:PROtoHIS ProteinPosition:86 cDNAposition:257 MutationType:missense_variant;transversion CivicName:P86H(c.257C>A) CAID:CA351750632 ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 04 Nov 2026
      2 (50)

      GroupID: 24b

      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: N/A

      GroupHPOFreeText: These 2/4 patients with a P86H (c.257C>A) mutation did NOT have retinal capillary hemangiomas. Other VHL manifestations were discussed but not per- variant.

      GroupNotHPOs: HP:0009711 (retinal capillary hemangioma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P86H (c.257C>A)

      LegacyVariant: N/A

      GroupProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351750632 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.257C>A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: P86H (c.257C>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL MutationType:missense_variant;transversion ProteinPosition:86 cDNAposition:257 CivicName:P86H(c.257C>A) AminoAcidChange:PROtoHIS CAID:CA351750632 ClinVarID:N/A SupplementalData NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/10.1111/aos.14843