36 Matching Annotations
  1. Last 7 days
  2. www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu
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    25
    1. 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
    2. ClingenBaseline 22 Oct 2026
      002–2010

      Case#: 002-2010

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      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.901C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA414917990

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414917990 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 22 Oct 2026
      035–2005

      Case#: 035-2005

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 1% < FVIII:C < 5%

      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.1175C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255095

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255095 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 22 Oct 2026
      068–2003

      Case#: 068-2003

      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.5275G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414911087

      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:CA414911087 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 22 Oct 2026
      004–2013

      Case#: 004-2013

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      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.6046C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255197

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255197 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    6. ClingenBaseline 21 Oct 2026
      022–2007

      Case#: 022-2007

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 1% < FVIII:C < 5%

      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.73_75delTAC

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    7. ClingenBaseline 21 Oct 2026
      015–2008

      Case#: 015-2008

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      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.dupexons7_22

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large ToCheck FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    8. ClingenBaseline 21 Oct 2026
      001–2052

      Case#: 001-2052

      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.1988C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255135

      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:CA255135 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    9. ClingenBaseline 21 Oct 2026
      001–2022

      Case#: 001-2022

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      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.947_949insA

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    10. ClingenBaseline 21 Oct 2026
      060–2008

      Case#: 060-2008

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      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.1618C>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414911950

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414911950 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    11. ClingenBaseline 21 Oct 2026
      020–2015

      Case#: 020-2015

      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.5612T>G

      LegacyVariant:

      ClinVar: No

      CAID: CA414908197

      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:CA414908197 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    12. ClingenBaseline 21 Oct 2026
      004–2025

      Case#: 004-2025

      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.328A>G

      LegacyVariant:

      ClinVar: No

      CAID: CA255057

      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:CA255057 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    13. ClingenBaseline 21 Oct 2026
      001–2049

      Case#: 001-2049

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      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.901C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA414917990

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414917990 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    14. ClingenBaseline 21 Oct 2026
      045–2002

      Case#: 045-2002

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 1% < FVIII:C < 5%

      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.3637delA

      LegacyVariant:

      ClinVar: No

      CAID: CA255146

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion CAID:CA255146 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    15. ClingenBaseline 21 Oct 2026
      003–2012

      Case#: 003-2012

      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.992T>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414917621

      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:CA414917621 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    16. ClingenBaseline 21 Oct 2026
      003–2017

      Case#: 003-2017

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      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.4379dupA

      LegacyVariant:

      ClinVar: No

      CAID: CA645292749

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA645292749 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    17. ClingenBaseline 21 Oct 2026
      020–2052

      Case#: 020-2052

      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.923C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255082

      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:CA255082 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    18. ClingenBaseline 21 Oct 2026
      003–2007

      Case#: 003-2007

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 1% < FVIII:C < 5%

      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.1475A>G

      LegacyVariant:

      ClinVar: No

      CAID: CA337334224

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA337334224 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    19. ClingenBaseline 21 Oct 2026
      087–2003

      Case#: 087-2003

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      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.5122C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA120919

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA120919 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    20. ClingenBaseline 21 Oct 2026
      020–2045

      Case#: 020-2045

      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.458A>T

      LegacyVariant:

      ClinVar: No

      CAID: CA414919676

      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:CA414919676 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    21. ClingenBaseline 21 Oct 2026
      084–2006

      Case#: 084-2006

      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.1910A>G

      LegacyVariant:

      ClinVar: No

      CAID: CA414909849

      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:CA414909849 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    22. ClingenBaseline 21 Oct 2026
      001–2045

      Case#: 001-2045

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      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.1462G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414912862

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414912862 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    23. ClingenBaseline 21 Oct 2026
      071–2032

      Case#: 071-2032

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      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.308_319delGTGGTCATTACA

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    24. ClingenBaseline 21 Oct 2026
      001–2028

      Case#: 001-2028

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      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.4379dupA

      LegacyVariant:

      ClinVar: No

      CAID: CA645292749

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA645292749 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    25. 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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    www-thieme-connect-de.libproxy.lib.unc.edu/media/10.1055-s-00035024/202105/supmat/10-1055-s-0040-1721385-s200426.pdf
  3. 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
    5
    1. ClingenBaseline 22 Oct 2026
      B83

      Case#: B83

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C Chr = 17, FVIII:AG = 19, 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.6448G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414907951

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA<CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA414907951 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 22 Oct 2026
      A14 A15

      Case#: A14, A15

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 15, FVIII:AG = 41, 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.5530C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255170

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA>CSA ToCheck InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA255170 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 21 Oct 2026
      B79 – B82

      Case#: B79 - B82

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C Chr = 7, FVIII:AG = 15, 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.6413C>A

      LegacyVariant:

      ClinVar: No

      CAID: CA255204

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA<CSA ToCheck InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA255204 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    4. 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
    5. ClingenBaseline 21 Oct 2026
      A4

      Case#: A4

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 6, FVIII:AG = 15, 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.896A>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255078

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA>CSA ToCheck InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA255078 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    Visit annotations in context

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    URL

    www-thieme-connect-de.libproxy.lib.unc.edu/products/ejournals/pdf/10.1160/TH13-08-0690.pdf
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A genetic analysis of 23 Chinese patients with hemophilia B
    6
    1. ClingenBaseline 22 Oct 2026
      14

      Case#: 14

      DiseaseAssertion: Hemophilia B, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All exons, UTRs, exon-intron junction regions, and the promotor of F9 were amplified by PCR and analyzed by direct DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.59T>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414434363

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation: Missense CAID:CA414434363 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 22 Oct 2026
      3

      Case#: 3

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C = 2%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All exons, UTRs, exon-intron junction regions, and the promotor of F9 were amplified by PCR and analyzed by direct DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.881G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA255368

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation: Missense Inhibitor:NotReported CAID:CA255368 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 22 Oct 2026
      9

      Case#: 9

      DiseaseAssertion: Hemophilia B, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C = 5.1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All exons, UTRs, exon-intron junction regions, and the promotor of F9 were amplified by PCR and analyzed by direct DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.172G>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414435830

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense DiseaseSeverity:MildHemophiliaB CAID:CA414435830 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 21 Oct 2026
      12

      Case#: 12

      DiseaseAssertion: NA

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Na

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All exons, UTRs, exon-intron junction regions, and the promotor of F9 were amplified by PCR and analyzed by direct DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.434G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414438950

      gnomAD:

      CaseInfo Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion ParentalTest:Unknown ToCheck Mutation:Missense CAID:CA414438950 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 21 Oct 2026
      22

      Case#: 22

      DiseaseAssertion: Hemophilia B, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C = 19.5%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All exons, UTRs, exon-intron junction regions, and the promotor of F9 were amplified by PCR and analyzed by direct DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.571C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255340

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:MildHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense CAID:CA255340 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    6. ClingenBaseline 21 Oct 2026
      13

      Case#: 13

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C = 3.7%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All exons, UTRs, exon-intron junction regions, and the promotor of F9 were amplified by PCR and analyzed by direct DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.374G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414437883

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation: Missense CAID:CA414437883 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4842959/