11 Matching Annotations
  1. Oct 2026
  2. www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu
    Untitled document
    6
    1. ClingenBaseline 25 Oct 2026
      020–2065

      Case#: 020-2065

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

      Gene: F8

      Variant: NM_000132.3:c.1834C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255129

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255129 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 24 Oct 2026
      020–2038

      Case#: 020-2038

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

      Gene: F8

      Variant: NM_000132.3:c.1834C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255129

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255129 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 23 Oct 2026
      060–2010

      Case#: 060-2010

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

      Gene: F8

      Variant: NM_000132.3:c.1834C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255129

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorIXDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255129 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 22 Oct 2026
      060–2009

      Case#: 060-2009

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

      Gene: F8

      Variant: NM_000132.3:c.1834C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255129

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255129 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 22 Oct 2026
      038–2012

      Case#: 038-2012

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

      Gene: F8

      Variant: NM_000132.3:c.1834C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255129

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255129 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    6. ClingenBaseline 21 Oct 2026
      035–2017

      Case#: 035-2017

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

      Gene: F8

      Variant: NM_000132.3:c.1834C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255129

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255129 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    URL

    www-thieme-connect-de.libproxy.lib.unc.edu/media/10.1055-s-00035024/202105/supmat/10-1055-s-0040-1721385-s200426.pdf
  3. onlinelibrary.wiley.com onlinelibrary.wiley.com
    hae14141-sup-0001-tables1.pdf
    4
    1. ClingenBaseline 24 Oct 2026
      53

      Case#: 53, male, 21 years old, Chinese

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 15.9%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

      Gene: F8

      Variant: NM_000132.3:c.1834C>T

      LegacyVariant:

      ClinVar: 10236

      CAID: CA255129

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense DiseaseEntity:FactorVIIIDeficiency CAID:CA255129 ClinVarID:10236 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 23 Oct 2026
      56

      Case#: 56, male, 12 years old, Chinese

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 29%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

      Gene: F8

      Variant: NM_000132.3:c.1834C>T

      LegacyVariant:

      ClinVar: 10236

      CAID: CA255129

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA255129 ClinVarID:10236 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 22 Oct 2026
      54

      Case#: 54, male, 9 years old, Chinese

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 17%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

      Gene: F8

      Variant: NM_000132.3:c.1834C>T

      LegacyVariant:

      ClinVar: 10236

      CAID: CA255129

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA255129 ClinVarID:10236 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 21 Oct 2026
      55

      Case#: 55, male, 36 years old, Chinese

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 17%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

      Gene: F8

      Variant: NM_000132.3:c.1834C>T

      LegacyVariant:

      ClinVar: 10236

      CAID: CA255129

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA255129 ClinVarID:10236 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    onlinelibrary.wiley.com/action/downloadSupplement
  4. www-thieme-connect-com.libproxy.lib.unc.edu www-thieme-connect-com.libproxy.lib.unc.edu
    Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes
    1
    1. ClingenBaseline 23 Oct 2026
      c1834C>T

      Case#: 15

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 17/19/25% (Mild Phenotype), No inhibitors present

      CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing

      Gene: F8

      Variant: NM_000132.3(F8):c.1834C>T (p.Arg612Cys)

      ClinVar: 10236 https://www.ncbi.nlm.nih.gov/clinvar/variation/10236/

      CAID: CA255129

      gnomAD: MAF for Arg612Cys in Latino population 0.0001458<br>https://gnomad.broadinstitute.org/variant/X-154182236-G-A?dataset=gnomad_r2_1

      InheritancePattern:NoInheritanceAssertion Mutation:Missense DiseaseEntity:FactorVIIIDeficiency ClinVarID:10236 CAID:CA255129 Zygosity:NoZygosityAssertion ParentalTest:Unknown FVIIItesting:Partial CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    URL

    www-thieme-connect-com.libproxy.lib.unc.edu/products/ejournals/pdf/10.1160/TH16-05-0375.pdf