4 Matching Annotations
  1. Oct 2026
  2. www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu
    Haemophilia A mutations in patients with non-severe phenotype associated with a discrepancy between one-stage and chromogenic factor VIII activity assays
    2
    1. ClingenBaseline 25 Oct 2026
      B32 – B44

      Case#: B32 - B44

      DiseaseAssertion: NA

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C Chr = 94, FVIII:AG = 88, inverse assay discrepancy present (OSA<CSA)

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers

      Gene: F8

      Variant: NM_000132.4:c.2215G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA255139

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 Inhibitor:NotReported AssayDiscrepancy:OSA<CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA255139 NoDiseaseAssertion Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 21 Oct 2026
      B28. B29

      Case#: B28, B29

      DiseaseAssertion: NA

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C Chr = 78, FVIII:AG = 94, inverse assay discrepancy present (OSA<CSA)

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers

      Gene: F8

      Variant: NM_000132.4:c.2089G>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414909014

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 Inhibitor:NotReported AssayDiscrepancy:OSA<CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA414909014 NoDiseaseAssertion Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    www-thieme-connect-de.libproxy.lib.unc.edu/products/ejournals/pdf/10.1160/TH13-08-0690.pdf
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes
    1
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    pubmed.ncbi.nlm.nih.gov/33208168/
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    An Integrated Computational Framework to Assess the Mutational Landscape of α-L-Iduronidase IDUA Gene
    1
    1. ClingenBaseline 22 Oct 2026
      An Integrated Computational Framework to Assess the Mutational Landscape of α-L-Iduronidase IDUA Gene

      Free, full-text NOT available. Text obtained through a University account and annotations added to the free PubMed abstract.

      IDUA variants were pulled from various public databases and subjected to in silico analyses. No individual-level patient data (e.g., phenotypes) are provided.

      PMID:28608934 Gene:IDUA DiseaseEntity:MPS1 NoDiseaseAssertion InsufficientEvidence inferred_gene_hgnc:5391 inferred_gene_source:Gene_Name IDUA variant annotation
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    URL

    pubmed.ncbi.nlm.nih.gov/28608934/