462 Matching Annotations
  1. Oct 2026
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identification of a novel mutation in the factor VIII gene causing severe haemophilia A
    1
    1. ClingenBaseline 23 Oct 2026
      A 68-year-old male was diagnosed with severe HEMA in early childhood

      Case#: 68 year old male

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: Mother was a carrier and brother also suffered from severe Hemophilia A

      ParentalTesting: No

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 0.001%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: Whole exome sequencing was performed and subsequently analyzed

      Gene: F8

      Variant: NM_000132.3:c.5411_5413del

      LegacyVariant:

      ClinVar: No

      CAID: NA

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 InheritancePattern:Xlinked DiseaseSeverity:SevereHemophiliaA PreviousTesting:None FVIIItesting:Full ParentalTest:Unknown FamilyInfo DiseaseEntity:FactorVIIIDeficiency Zygosity:Hemizygous Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:InframeDel UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6069878/
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular epidemiology of factor IX germline mutations in Mexican Hispanics: pattern of mutation and potential founder effects
    1
    1. ClingenBaseline 23 Oct 2026
      mutations

      Case#: HB385

      DiseaseAssertion: Moderate Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity FIX:C: 2%

      CaseNotHPOs: None

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.128G>A (p.Arg43Gln)

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency CAID:CA414435539 Zygosity:NoZygosityAssertion ParentalTest:Unknown FIXTesting:Partial DiseaseSeverity:Moderate inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/8772212/
  4. www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu
    Untitled document
    54
    1. ClingenBaseline 23 Oct 2026
      035–2003

      Case#: 035-2003

      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.4825dupA

      LegacyVariant:

      ClinVar: No

      CAID: CA255152

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA255152 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 23 Oct 2026
      071–2029

      Case#: 071-2029

      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.1697T>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414911721

      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:CA414911721 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 23 Oct 2026
      035–2007

      Case#: 035-2007

      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.1963_1964insT

      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
    4. ClingenBaseline 23 Oct 2026
      002–2017

      Case#: 002-2017

      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.941C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA414917829

      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:CA414917829 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 23 Oct 2026
      071–2010

      Case#: 071-2010

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      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.1208A>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414916134

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414916134 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    6. ClingenBaseline 23 Oct 2026
      091–2009

      Case#: 091-2009

      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.2681delG

      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
    7. ClingenBaseline 23 Oct 2026
      003–2024

      Case#: 003-2024

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%, Inhibitor present

      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.5399G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA255162

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255162 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    8. 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
    9. ClingenBaseline 23 Oct 2026
      020–2024

      Case#: 020-2024

      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.437A>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414919724

      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:CA414919724 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    10. ClingenBaseline 23 Oct 2026
      001–2027

      Case#: 001-2027

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      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.1869_1870delG

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present 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
    11. ClingenBaseline 23 Oct 2026
      015–2003

      Case#: 015-2003

      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.3637delA

      LegacyVariant:

      ClinVar: No

      CAID: CA255146

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    12. ClingenBaseline 23 Oct 2026
      020–2006

      Case#: 020-2006

      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.1492G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA255109

      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:CA255109 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    13. ClingenBaseline 23 Oct 2026
      035–2022

      Case#: 035-2022

      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.5954G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414905715

      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:CA414905715 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    14. ClingenBaseline 23 Oct 2026
      020–2027

      Case#: 020-2027

      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.5253A>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414911240

      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:CA414911240 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    15. ClingenBaseline 23 Oct 2026
      091–2008

      Case#: 091-2008

      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.142A>G

      LegacyVariant:

      ClinVar: No

      CAID: CA414920432

      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:CA414920432 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    16. ClingenBaseline 23 Oct 2026
      001–2051

      Case#: 001-2051

      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.2134C>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414904092

      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:CA414904092 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    17. ClingenBaseline 22 Oct 2026
      071–2003

      Case#: 071-2003

      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.4825dupA

      LegacyVariant:

      ClinVar: No

      CAID: CA255152

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA255152 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    18. ClingenBaseline 22 Oct 2026
      001–1026

      Case#: 001-1026,...

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      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: NA

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Intronic FVIIItesting:Partial InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    19. ClingenBaseline 22 Oct 2026
      080–2002

      Case#: 080-2002

      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.1649G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA255115

      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:CA255115 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    20. ClingenBaseline 22 Oct 2026
      038–2002

      Case#: 038-2002

      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.5687_5690delCT

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial UnregisteredVariant SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    21. ClingenBaseline 22 Oct 2026
      016–2001

      Case#: 016-2001

      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
    22. ClingenBaseline 22 Oct 2026
      003–2005

      Case#: 003-2005

      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.5275delG

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial UnregisteredVariant SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    23. ClingenBaseline 22 Oct 2026
      071–2007

      Case#: 071-2007

      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.1208A>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414916134

      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:CA414916134 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    24. 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
    25. ClingenBaseline 22 Oct 2026
      016–2003

      Case#: 016-2003

      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.2129G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414904142

      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:CA414904142 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    26. ClingenBaseline 22 Oct 2026
      004–2017

      Case#: 004-2017

      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:

      LegacyVariant:

      ClinVar: No

      CAID:

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    27. ClingenBaseline 22 Oct 2026
      091–2004

      Case#: 091-2004

      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.5281T>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414911024

      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:CA414911024 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    28. ClingenBaseline 22 Oct 2026
      038–2025

      Case#: 038-2025

      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.514T>G

      LegacyVariant:

      ClinVar: No

      CAID: CA414919550

      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:CA414919550 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    29. ClingenBaseline 22 Oct 2026
      016–2005

      Case#: 016-2005

      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.3531_3533delA

      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
    30. ClingenBaseline 22 Oct 2026
      004–2008

      Case#: 004-2008

      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.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
    31. ClingenBaseline 22 Oct 2026
      035–2021

      Case#: 035-2021

      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.5954G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414905715

      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:CA414905715 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    32. ClingenBaseline 22 Oct 2026
      038–2011

      Case#: 038-2011

      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.5252A>G

      LegacyVariant:

      ClinVar: No

      CAID: CA414911251

      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:CA414911251 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    33. ClingenBaseline 22 Oct 2026
      020–2057

      Case#: 020-2057

      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:

      LegacyVariant:

      ClinVar: No

      CAID:

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    34. ClingenBaseline 22 Oct 2026
      035–2019

      Case#: 035-2019

      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
    35. ClingenBaseline 22 Oct 2026
      035–2001

      Case#: 035-2001

      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.1963_1964insT

      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
    36. ClingenBaseline 22 Oct 2026
      071–2027

      Case#: 071-2027

      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.4184_4186delGGAinsCCTC

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:InframeDelins InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial UnregisteredVariant SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    37. ClingenBaseline 22 Oct 2026
      015–2006

      Case#: 015-2006

      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.343G>T

      LegacyVariant:

      ClinVar: No

      CAID: CA414919965

      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:CA414919965 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    38. ClingenBaseline 22 Oct 2026
      060–2001

      Case#: 060-2001

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      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:

      LegacyVariant:

      ClinVar: No

      CAID:

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    39. ClingenBaseline 22 Oct 2026
      066–2003

      Case#: 066-2003

      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.1649G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA255115

      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:CA255115 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    40. ClingenBaseline 22 Oct 2026
      002–2002

      Case#: 002-2002

      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.2092T>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414908999

      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:CA414908999 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    41. ClingenBaseline 22 Oct 2026
      038–2023

      Case#: 038-2023

      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.322_332þ8delGCTTCTGAGGGtgagtaaa

      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
    42. ClingenBaseline 22 Oct 2026
      002–2006

      Case#: 002-2006

      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.4379delA

      LegacyVariant:

      ClinVar: No

      CAID: CA255151

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255151 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    43. ClingenBaseline 22 Oct 2026
      001–2040

      Case#: 001-2040

      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.5630G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414908131

      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:CA414908131 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    44. ClingenBaseline 22 Oct 2026
      003–2001

      Case#: 003-2001

      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.493C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255065

      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:CA255065 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    45. 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
    46. 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
    47. 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
    48. 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
    49. 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
    50. 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
    51. 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
    52. 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
    53. 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
    54. 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
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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
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular Analysis of Factor VIII and Factor IX Genes in Hemophilia Patients: Identification of Novel Mutations and Molecular Dynamics Studies
    10
    1. ClingenBaseline 23 Oct 2026
      UQU-HA35

      Case#: UQU-HA35, Male, 2-months-old, Saudi Arabia

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: PTT 118.8, Disabled both knees, Severe

      CasePreviousTesting: Screened for inversion 22 by inverse PCR, screened for inversion 1 by multiplexed PCR, capillary sequencing (Sanger method) was performed for factor VIII all 26 exons

      Gene: F8

      Variant: NM_000132.3:c.1835G>C (p.Arg612Pro)

      ClinVar: NA

      CAID: CA414910775

      gnomAD: Not reported

      CAID:CA414910775 Mutation:Missense DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown InheritancePattern:NoInheritanceAssertion CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 23 Oct 2026
      UQU-HB7

      Case#: UQU-HB7, Male, 16-months-old, Saudi Arabia

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Severe, Disabled right knee and both ankles , PTT 53.2

      CasePreviousTesting: Screened for all factor IX exons by capillary sequencing

      Gene: F9

      Variant: NM_000133.3(F9):c.880C>T (p.Arg294Ter)

      ClinVar: 10587 https://www.ncbi.nlm.nih.gov/clinvar/variation/10587/

      CAID: CA255344

      gnomAD: Not reported

      ClinVarID:10587 CAID:CA255344 Mutation:Nonsense InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorIXDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 23 Oct 2026
      UQU-HA36

      Case#: UQU-HA36, Male, 6-months-old, Saudi Arabia

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: PTT 125.4, Severe, Disabled right knees, left elbow, and ankle

      CasePreviousTesting: Screened for inversion 22 by inverse PCR, screened for inversion 1 by multiplexed PCR, capillary sequencing (Sanger method) was performed for factor VIII all 26 exons

      Gene: F8

      Variant: NM_000132.3:c.409A>C (p.Thr137Pro)

      ClinVar: NA

      CAID: CA414919795

      gnomAD: Not reported

      CAID:CA414919795 Mutation:Missense InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency ParentalTest:Unknown Zygosity:NoZygosityAssertion CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 22 Oct 2026
      UQU-HB10

      Case#: UQU-HB10, Male, 1-months-old, Saudi Arabia

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Mild, Unable to flex knees fully, PTT 45.8

      CasePreviousTesting: Screened for all factor IX exons by capillary sequencing

      Gene: F9

      Variant: NM_001313913.1:c.580G>A

      ClinVar: NA

      CAID: CA414441211

      gnomAD: Not reported

      Mutation:Missense CAID:CA414441211 InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 22 Oct 2026
      UQU-HB12

      Case#: UQU-HB12, Male, 12-months-old, Saudi Arabia

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Mild, Unable to flex knees fully, PTT 73.1

      CasePreviousTesting: Screened for all factor IX exons by capillary sequencing

      Gene: F9

      Variant: NM_001313913.1:c.580G>A

      ClinVar: NA

      CAID: CA414441211

      gnomAD: Not reported

      Mutation:Missense CAID:CA414441211 InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    6. ClingenBaseline 22 Oct 2026
      UQU-HA37

      Case#: UQU-HA37, Male, 1-months-old, Saudi Arabia

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: PTT 49.6, FVIII: 1 to <5% (Moderate), Disabled left knee

      CasePreviousTesting: Screened for inversion 22 by inverse PCR, screened for inversion 1 by multiplexed PCR, capillary sequencing (Sanger method) was performed for factor VIII all 26 exons

      Gene: F8

      Variant: NM_000132.3:c.6430-1G>A

      ClinVar: NA

      CAID: CA414908097

      gnomAD: Not reported

      Mutation:Splice InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown CAID:CA414908097 FVIIItesting:Partial CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    7. ClingenBaseline 22 Oct 2026
      UQU-HB5

      Case#: UQU-HB5, Male, 12-months-old, Saudi Arabia

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Mild, PTT 47.3

      CasePreviousTesting: Screened for all factor IX exons by capillary sequencing

      Gene: F9

      Variant: NM_000133.3(F9):c.316G>A (p.Gly106Ser)

      ClinVar: 10579 https://www.ncbi.nlm.nih.gov/clinvar/variation/10579/

      CAID: CA255329

      gnomAD: MAF for Gly106Ser in the Other population 0.0001881<br>https://gnomad.broadinstitute.org/variant/X-138623273-G-A?dataset=gnomad_r2_1

      ClinVarID:10579 CAID:CA255329 Mutation:Missense InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion ParentalTest:Unknown DiseaseEntity:FactorIXDeficiency CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    8. ClingenBaseline 22 Oct 2026
      UQU-HA33

      Case#: UQU-HA33, Male, 2-months-old, Saudi Arabia

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: PTT 99.5, Disabled Right Knee, Severe

      CasePreviousTesting: Screened for inversion 22 by inverse PCR, screened for inversion 1 by multiplexed PCR, capillary sequencing (Sanger method) was performed for factor VIII all 26 exons

      Gene: F8

      Variant: NM_000132.3:c.760A>G (p.Asn254Asp)

      ClinVar: NA

      CAID: CA414918977

      gnomAD: Not reported

      CAID:CA414918977 Mutation:Missense DiseaseEntity:FactorIXDeficiency InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion ParentalTest:Unknown CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    9. ClingenBaseline 22 Oct 2026
      UQU-HB6

      Case#: UQU-HB6, Male, 11-months-old, Saudi Arabia

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Severe, Disabled right knee, PTT 52.2

      CasePreviousTesting: Screened for all factor IX exons by capillary sequencing

      Gene: F9

      Variant: NM_000133.3(F9):c.880C>T (p.Arg294Ter)

      ClinVar: 10587 https://www.ncbi.nlm.nih.gov/clinvar/variation/10587/

      CAID: CA255344

      gnomAD: Not reported

      ClinVarID:10587 CAID:CA255344 Mutation:Nonsense DiseaseEntity:FactorIXDeficiency InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion ParentalTest:Unknown CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    10. ClingenBaseline 22 Oct 2026
      UQU-HA34

      Case#: UQU-HA34, Male, 1-months-old, Saudi Arabia

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: PTT 94, Disabled Left elbow, Severe

      CasePreviousTesting: Screened for inversion 22 by inverse PCR, screened for inversion 1 by multiplexed PCR, capillary sequencing (Sanger method) was performed for factor VIII all 26 exons

      Gene: F8

      Variant: NM_000132.3:c.1835G>C (p.Arg612Pro)

      ClinVar: NA

      CAID: CA414910775

      gnomAD: Not reported

      CAID:CA414910775 Mutation:Missense InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency ParentalTest:Unknown Zygosity:NoZygosityAssertion CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5330775/
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites
    7
    1. ClingenBaseline 23 Oct 2026
      c.1682delA

      Case#: 2

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Sporadic

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Severe

      CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit

      Gene: F8

      Variant: NM_000132.3:c.1682del (p.Asp561ValfsTer2)

      ClinVar: NA

      CAID: CA1139532041

      gnomAD: Not reported

      DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown CaseInfo HGNC:3546 CAID:CA1139532041 Gene:F8 Mutation:Frameshift InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 23 Oct 2026
      c.5159C>T

      Case#: 24

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Positive

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Mild

      CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit

      Gene: F8

      Variant: NM_000132.3:c.5159C>T (p.Ala1701Val)

      ClinVar: NA

      CAID: CA414913679

      gnomAD: Not reported

      CAID:CA414913679 DiseaseEntity:FactorVIIIDeficiency ParentalTest:Unknown Zygosity:NoZygosityAssertion InheritancePattern:Xlinked CaseInfo HGNC:3546 Mutation:Missense Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 23 Oct 2026
      c.248C>G

      Case#: 12

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Positive

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Mild

      CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit

      Gene: F8

      Variant: NM_000132.3:c.248C>G (p.Pro83Arg)

      ClinVar: NA

      CAID: CA10568618

      gnomAD: MAF for Pro83Arg in the Ashkenazi Jewish population 0.0001335<br>https://gnomad.broadinstitute.org/variant/X-154227771-G-C?dataset=gnomad_r2_1

      CAID:CA10568618 DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown InheritancePattern:Xlinked CaseInfo HGNC:3546 Mutation:Missense Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 23 Oct 2026
      c.1487C>G

      Case#: 20

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Sporadic

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Severe

      CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit

      Gene: F8

      Variant: NM_000132.3:c.1487C>G (p.Pro477Arg)

      ClinVar: NA

      CAID: CA414912766

      gnomAD: Not reported

      CAID:CA414912766 DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown HGNC:3546 CaseInfo Mutation:Missense Gene:F8 InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 22 Oct 2026
      IVS13 a-2g

      Case#: 10

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Sporadic

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Severe, Inhibitors present

      CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit

      Gene: F8

      Variant: NM_000132.3:c.2114-2A>G

      ClinVar: NA

      CAID: CA414904364

      gnomAD: NA

      DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown CAID:CA414904364 HGNC:3546 CaseInfo Gene:F8 Mutation:Intronic InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    6. ClingenBaseline 22 Oct 2026
      c.1421G>T

      Case#: 19

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Mild

      CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit

      Gene: F8

      Variant: NM_000132.3:c.1421G>T (p.Gly455Val)

      ClinVar: NA

      CAID: CA414914381

      gnomAD: Not reported

      CAID:CA414914381 InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown CaseInfo HGNC:3546 Mutation:Missense Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    7. ClingenBaseline 22 Oct 2026
      C.6857A>G

      Case#: 30

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Sporadic

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Mild

      CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit

      Gene: F8

      Variant: NM_000132.3:c.6857A>G (p.Asp2267Gly)

      ClinVar: NA

      CAID: CA414903332

      gnomAD: Not reported

      CAID:CA414903332 DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown CaseInfo HGNC:3546 Mutation:Missense Gene:F8 InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC2275016/
  7. oce-ovid-com.libproxy.lib.unc.edu oce-ovid-com.libproxy.lib.unc.edu
    Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia a in southern Italy | Ovid
    18
    1. ClingenBaseline 23 Oct 2026
      Table 1

      Case#: Cz6, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Sporadic

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C <1%

      CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method

      Gene: F8

      Variant: NM_000132.3(F8):c.4156C>T (p.Gln1386Ter)

      ClinVar: NA

      CAID: CA414891965

      gnomAD: Not reported

      CaseInfo HGNC:3546 InheritancePattern:DeNovoAssertion CAID:CA414891965 DiseaseEntity:FactorVIIIDeficiency ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial Gene:F8 Mutation:Nonsense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 23 Oct 2026
      Table 2

      Case#: Cz40, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C 2.5%

      CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method

      Gene: F8

      Variant: NM_000132.3:c.1538-18G>A

      ClinVar: 811357 https://www.ncbi.nlm.nih.gov/clinvar/variation/811357/

      CAID: CA873354114

      gnomAD: Not reported

      CAID:CA873354114 Zygosity:NoZygosityAssertion InheritancePattern:Xlinked DiseaseEntity:FactorVIIIDeficiency ClinVarID:811357 FVIIItesting:Partial ParentalTest:Unknown Mutation:Intronic CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 23 Oct 2026
      Table 2

      Case#: Cz5, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C 4%

      CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method

      Gene: F8

      Variant: NM_000132.3:c.1538-18G>A

      ClinVar: 811357 https://www.ncbi.nlm.nih.gov/clinvar/variation/811357/

      CAID: CA873354114

      gnomAD: Not reported

      DiseaseEntity:FactorVIIIDeficiency InheritancePattern:Xlinked Zygosity:NoZygosityAssertion FVIIItesting:Partial ParentalTest:Unknown CAID:CA873354114 ClinVarID:811357 Mutation:Intronic HGNC:3546 CaseInfo Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 23 Oct 2026
      Table 2

      Case#: Cz13, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C 4%

      CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method

      Gene: F8

      Variant: NM_000132.3:c.1538-18G>A

      ClinVar: 811357 https://www.ncbi.nlm.nih.gov/clinvar/variation/811357/

      CAID: CA873354114

      gnomAD: Not reported

      InheritancePattern:Xlinked DiseaseEntity:FactorVIIIDeficiency ParentalTest:Unknown FVIIItesting:Partial Zygosity:NoZygosityAssertion CAID:CA873354114 ClinVarID:811357 Mutation:Intronic CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 23 Oct 2026
      Table 1

      Case#: Cz7, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Sporadic

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C <1%

      CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method

      Gene: F8

      Variant: NM_000132.3(F8):c.5143C>T (p.Arg1715Ter)

      ClinVar: 10267 https://www.ncbi.nlm.nih.gov/clinvar/variation/10267/

      CAID: CA255155

      gnomAD: Not reported

      CaseInfo HGNC:3546 InheritancePattern:DeNovoAssertion DiseaseEntity:FactorVIIIDeficiency ParentalTest:Unknown Zygosity:NoZygosityAssertion ClinVarID:10267 CAID:CA255155 FVIIItesting:Partial Gene:F8 Mutation:Nonsense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    6. ClingenBaseline 23 Oct 2026
      Table 2

      Case#: Cz16, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Sporadic

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C 4%

      CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method

      Gene: F8

      Variant: NM_000132.3:c.1538-18G>A

      ClinVar: 811357 https://www.ncbi.nlm.nih.gov/clinvar/variation/811357/

      CAID: CA873354114

      gnomAD: Not reported

      InheritancePattern:DeNovoAssertion FVIIItesting:Partial ParentalTest:Unknown DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion CAID:CA873354114 ClinVarID:811357 Mutation:Intronic CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    7. ClingenBaseline 22 Oct 2026
      Table 2

      Case#: Cz24, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Sporadic

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C 4%

      CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method

      Gene: F8

      Variant: NM_000132.3:c.1538-18G>A

      ClinVar: 811357 https://www.ncbi.nlm.nih.gov/clinvar/variation/811357/

      CAID: CA873354114

      gnomAD: Not reported

      InheritancePattern:DeNovoAssertion DiseaseEntity:FactorVIIIDeficiency Mutation:Intronic CAID:CA873354114 FVIIItesting:Partial ParentalTest:Unknown Zygosity:NoZygosityAssertion ClinVarID:811357 CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    8. ClingenBaseline 22 Oct 2026
      Table 1

      Case#: Cz29, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Sporadic

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C <1%

      CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method

      Gene: F8

      Variant: F8, IVS22 INV

      ClinVar: 10150 https://www.ncbi.nlm.nih.gov/clinvar/variation/10150/

      CAID: NA

      gnomAD: Not reported

      CaseInfo HGNC:3546 InheritancePattern:DeNovoAssertion DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion FVIIItesting:Partial ParentalTest:Unknown ClinVarID:10150 Mutation:Intronic Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    9. ClingenBaseline 22 Oct 2026
      Table 2

      Case#: Cz1, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C 4%

      CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method

      Gene: F8

      Variant: NM_000132.3:c.1538-18G>A

      ClinVar: 811357 https://www.ncbi.nlm.nih.gov/clinvar/variation/811357/

      CAID: CA873354114

      gnomAD: Not reported

      InheritancePattern:Xlinked DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown ClinVarID:811357 CAID:CA873354114 FVIIItesting:Partial Mutation:Intronic CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    10. ClingenBaseline 22 Oct 2026
      Table 2

      Case#: Cz33, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C 8%

      CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method

      Gene: F8

      Variant: NM_000132.3:c.1538-18G>A

      ClinVar: 811357 https://www.ncbi.nlm.nih.gov/clinvar/variation/811357/

      CAID: CA873354114

      gnomAD: Not reported

      InheritancePattern:Xlinked DiseaseEntity:FactorVIIIDeficiency Mutation:Intronic CAID:CA873354114 ClinVarID:811357 Zygosity:NoZygosityAssertion FVIIItesting:Partial ParentalTest:Unknown CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    11. ClingenBaseline 22 Oct 2026
      Table 1

      Case#: Cz12, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Sporadic

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C <1%

      CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method

      Gene: F8

      Variant: NM_000132.3(F8):c.5953C>T (p.Arg1985Ter)

      ClinVar: 10300 https://www.ncbi.nlm.nih.gov/clinvar/variation/10300/

      CAID: CA255191

      gnomAD: Not reported

      CaseInfo InheritancePattern:DeNovoAssertion HGNC:3546 CAID:CA255191 ClinVarID:10300 DiseaseEntity:FactorVIIIDeficiency FVIIItesting:Partial ParentalTest:Unknown Zygosity:NoZygosityAssertion Gene:F8 Mutation:Nonsense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    12. ClingenBaseline 22 Oct 2026
      Table 1

      Case#: Cz31, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C <1%

      CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method

      Gene: F8

      Variant: NM_000132.3:c.1324T>C (p.Tyr442His)

      ClinVar: NA

      CAID: CA414915029

      gnomAD: Not reported

      InheritancePattern:Xlinked DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion FVIIItesting:Partial ParentalTest:Unknown CAID:CA414915029 CaseInfo HGNC:3546 Gene:F8 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    13. ClingenBaseline 22 Oct 2026
      Table 2

      Case#: Cz11, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C 4%

      CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method

      Gene: F8

      Variant: NM_000132.3:c.1538-18G>A

      ClinVar: 811357 https://www.ncbi.nlm.nih.gov/clinvar/variation/811357/

      CAID: CA873354114

      gnomAD: Not reported

      InheritancePattern:Xlinked DiseaseEntity:FactorVIIIDeficiency ParentalTest:Unknown FVIIItesting:Partial Zygosity:NoZygosityAssertion CAID:CA873354114 ClinVarID:811357 Mutation:Intronic CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    14. ClingenBaseline 22 Oct 2026
      Table 2

      Case#: Cz26, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C 1.5%

      CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method

      Gene: F8

      Variant: NM_000132.3:c.1538-18G>A

      ClinVar: 811357 https://www.ncbi.nlm.nih.gov/clinvar/variation/811357/

      CAID: CA873354114

      gnomAD: Not reported

      InheritancePattern:DeNovoAssertion DiseaseEntity:FactorVIIIDeficiency Mutation:Intronic Zygosity:NoZygosityAssertion ParentalTest:Unknown FVIIItesting:Partial CAID:CA873354114 ClinVarID:811357 CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    15. ClingenBaseline 22 Oct 2026
      Table 1

      Case#: Cz37, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C <1%

      CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method

      Gene: F8

      Variant: NM_000132.3:c.4379dup (p.Asn1460LysfsTer2)

      ClinVar: NA

      CAID: CA645292749

      gnomAD: MAF for p.Asn1460LysfsTer2 in the European (non-Finnish) population 0.00001245<br>https://gnomad.broadinstitute.org/variant/X-154157685-A-AT

      CaseInfo HGNC:3546 InheritancePattern:Xlinked ParentalTest:Unknown FVIIItesting:Partial DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion Gene:F8 CAID:CA645292749 Mutation:Frameshift inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    16. ClingenBaseline 22 Oct 2026
      Table 2

      Case#: Cz23, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Sporadic

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C 4%

      CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method

      Gene: F8

      Variant: NM_000132.3:c.1538-18G>A

      ClinVar: 811357 https://www.ncbi.nlm.nih.gov/clinvar/variation/811357/

      CAID: CA873354114

      gnomAD: Not reported

      InheritancePattern:DeNovoAssertion DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown FVIIItesting:Partial CAID:CA873354114 ClinVarID:811357 Mutation:Intronic HGNC:3546 CaseInfo Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    17. ClingenBaseline 21 Oct 2026
      Table 2

      Case#: Cz39, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C 4%

      CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method

      Gene: F8

      Variant: NM_000132.3:c.1538-18G>A

      ClinVar: 811357 https://www.ncbi.nlm.nih.gov/clinvar/variation/811357/

      CAID: CA873354114

      gnomAD: Not reported

      InheritancePattern:Xlinked FVIIItesting:Partial ParentalTest:Unknown DiseaseEntity:FactorVIIIDeficiency CAID:CA873354114 Mutation:Intronic ClinVarID:811357 Zygosity:NoZygosityAssertion CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    18. ClingenBaseline 21 Oct 2026
      Table 2

      Case#: Cz15, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C 2.4%

      CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method

      Gene: F8

      Variant: NM_000132.3:c.1538-18G>A

      ClinVar: 811357 https://www.ncbi.nlm.nih.gov/clinvar/variation/811357/

      CAID: CA873354114

      gnomAD: Not reported

      DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown CAID:CA873354114 ClinVarID:811357 Mutation:Intronic FVIIItesting:Partial InheritancePattern:Xlinked CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    oce-ovid-com.libproxy.lib.unc.edu/article/00001721-200804000-00003/HTML
  8. www.actabp.pl www.actabp.pl
    untitled
    2
    1. ClingenBaseline 23 Oct 2026

      Case#: 043 (GB); Polish origin

      DiseaseAssertion: Moderate Hemophilia B

      FamilyInfo: Not provided

      ParentalTesting: Not provided

      CasePresentingHPOs: HP:0011858

      CasePresentingHPOsFreeText: FIX:C : 4; FIX:Ag : 4

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.82T>C (p.Cys28Arg)

      ClinVar: 10657

      CAID: CA255450

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA255450 FIXTesting:Full ParentalTest:Unknown DiseaseSeverity:Moderate inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 23 Oct 2026

      Case#: 014 (AD); Polish origin

      DiseaseAssertion: Moderate Hemophilia B

      FamilyInfo: Not provided

      ParentalTesting: Not provided

      CasePresentingHPOs: HP:0011858

      CasePresentingHPOsFreeText: FIX:C : 2; FIX:Ag : 65

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.138G>T (p.Arg46Ser)

      ClinVar: Absent/Not Reported

      CAID: CA414435596

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense ParentalTest:Unknown FIXTesting:Full Zygosity:NoZygosityAssertion DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    actabp.pl/pdf/3_1999/721.pdf
  9. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    A recoded view on the F9 p.Cys178Ter pathogenic mechanism
    2
    1. ClingenBaseline 23 Oct 2026
      Table 1

      Case#: N/A

      DiseaseAssertion: Severe/Moderate Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: None

      CasePresentingHPOs: HP:0001929

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.83G>A (p.Cys28Tyr)

      ClinVar: Absent

      CAID: CA414434483

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414434483 FIXTesting:None ParentalTest:Unknown DiseaseSeverity:Moderate-Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 22 Oct 2026
      Table 1

      Case#: N/A

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: None

      CasePresentingHPOs: HP:0001929

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.84T>G (p.Cys28Trp)

      ClinVar: Absent

      CAID: CA414434487

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414434487 FIXTesting:None ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0049384820300256
  10. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A genetic analysis of 23 Chinese patients with hemophilia B
    9
    1. ClingenBaseline 23 Oct 2026
      15

      Case#: 15

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C = 2.6%

      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.781T>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414443378

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense CAID:CA414443378 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 23 Oct 2026
      10

      Case#: 10

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C = 1.8%

      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:

      LegacyVariant: NM_000133.3:c.880C>T

      ClinVar: No

      CAID: CA255344

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense CAID:CA255344 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 23 Oct 2026
      4

      Case#: 4

      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.520G>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414439517

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense Inhibitor:NotReported CAID:CA414439517 ToCheck inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 22 Oct 2026
      19

      Case#: 19

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C = 1.9%

      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.755G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414443205

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense CAID:CA414443205 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 22 Oct 2026
      7

      Case#: 7

      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.677G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA121128

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense CAID:CA121128 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    6. ClingenBaseline 22 Oct 2026
      18

      Case#: 18

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C = 3.9%

      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.284A>G

      LegacyVariant:

      ClinVar: No

      CAID: CA414437372

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense CAID:CA414437372 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    7. 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
    8. 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
    9. 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
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    ncbi.nlm.nih.gov/pmc/articles/PMC4842959/
  11. 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
    27
    1. ClingenBaseline 23 Oct 2026
      c.6622C>G

      Case#: 33

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 21/29/33/15/20/26%, 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.6622C>G (p.Gln2208Glu)

      ClinVar: 811219 https://www.ncbi.nlm.nih.gov/clinvar/variation/811219/

      CAID: CA414905992

      gnomAD: MAF for Gln2208Glu in the Other population 0.0002208<br>https://gnomad.broadinstitute.org/variant/X-154090094-G-C?dataset=gnomad_r2_1

      DiseaseEntity:FactorVIIIDeficiency Mutation:Missense ClinVarID:811219 CAID:CA414905992 InheritancePattern:NoInheritanceAssertion ParentalTest:Unknown FVIIItesting:Partial Zygosity:NoZygosityAssertion CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 23 Oct 2026
      c.1649G>A

      Case#: 14

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 27% (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.1649G>A (p.Arg550His)

      ClinVar: 10225 https://www.ncbi.nlm.nih.gov/clinvar/variation/10225/

      CAID: CA255115

      gnomAD: MAF for Arg550His in European (non-Finnish) population 0.00002442<br> https://gnomad.broadinstitute.org/variant/X-154185335-C-T?dataset=gnomad_r2_1

      InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion FVIIItesting:Partial Mutation:Missense ClinVarID:10225 CAID:CA255115 DiseaseEntity:FactorVIIIDeficiency ParentalTest:Unknown CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 23 Oct 2026
      c.280A>G

      Case#: 2

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 32% (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.280A>G (p.Thr94Ala)

      ClinVar: NA

      CAID: CA10568603

      gnomAD: MAF for Thr94Ala in the European (Non-Finnish) population 0.00001222<br> https://gnomad.broadinstitute.org/variant/X-154225356-T-C?dataset=gnomad_r2_1

      InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA10568603 FVIIItesting:Partial ParentalTest:Unknown CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 23 Oct 2026
      c.7031G>C

      Case#: 38

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 29%, 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:c.7031G>C (p.Gly2344Ala)

      ClinVar: NA

      CAID: CA414896685

      gnomAD: Not reported

      CAID:CA414896685 DiseaseEntity:FactorVIIIDeficiency Mutation:Missense FVIIItesting:Partial Zygosity:NoZygosityAssertion InheritancePattern:NoInheritanceAssertion ParentalTest:Unknown CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 23 Oct 2026
      c.6118T>G

      Case#: 29

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 10/8/14%, 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:c.6118T>G (p.Cys2040Gly)

      ClinVar: NA

      CAID: CA414904332

      gnomAD: Not reported

      CAID:CA414904332 InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion DiseaseEntity:FactorVIIIDeficiency Mutation:Missense ParentalTest:Unknown FVIIItesting:Partial HGNC:3546 CaseInfo Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    6. ClingenBaseline 23 Oct 2026
      c.422G>A

      Case#: 42

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C 4% (Moderate Phenotype)

      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: F9

      Variant: NM_000133.4(F9):c.422G>A (p.Cys141Tyr)

      ClinVar: 811510 https://www.ncbi.nlm.nih.gov/clinvar/variation/811510/

      CAID: CA414438897

      gnomAD: Not reported

      InheritancePattern:NoInheritanceAssertion Mutation:Missense ClinVarID:811510 CAID:CA414438897 FIXtesting:Partial DiseaseEntity:FactorIXDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    7. ClingenBaseline 22 Oct 2026
      c.681G>T

      Case#: 6

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C <1% (Severe Phenotype), No inhibitors present

      CasePreviousTesting: Screened for IVS-22 and IVS-1, Possibility that sample was blinded for NGS and then validated by comparing results with Sanger Sequencing

      Gene: F8

      Variant: NM_000132.3:c.681G>T (p.Trp227Cys)

      ClinVar: NA

      CAID: CA414919155

      gnomAD: Not reported

      InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency Mutation:Missense Zygosity:NoZygosityAssertion FVIIItesting:Partial ParentalTest:Unknown CAID:CA414919155 CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    8. ClingenBaseline 22 Oct 2026
      c.1288T>C

      Case1: 9

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 17% (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:c.1288T>C (p.Tyr430His)

      ClinVar: NA

      CAID: CA337336221

      gnomAD: Not reported

      InheritancePattern:NoInheritanceAssertion Mutation:Missense DiseaseEntity:FactorVIIIDeficiency CAID:CA337336221 FVIIItesting:Partial ParentalTest:Unknown Zygosity:NoZygosityAssertion CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    9. ClingenBaseline 22 Oct 2026
      c.6113A>G

      Case#: 28

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 5/3% (Moderate 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.6113A>G (p.Asn2038Ser)

      ClinVar: 10305 https://www.ncbi.nlm.nih.gov/clinvar/variation/10305/

      CAID: CA255198

      gnomAD: Not reported

      DiseaseEntity:FactorVIIIDeficiency Mutation:Missense FVIIItesting:Partial ParentalTest:Unknown ClinVarID:10305 CAID:CA255198 Zygosity:NoZygosityAssertion InheritancePattern:NoInheritanceAssertion CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    10. ClingenBaseline 22 Oct 2026
      IVS22

      Case#: 30

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C <1%, Severe Phenotype, Inhibitors present

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

      Gene: F8

      Variant: F8, IVS22 INV

      ClinVar: 10150 https://www.ncbi.nlm.nih.gov/clinvar/variation/10150/#id_second

      gnomAD: Not reported

      ClinVarID:10150 InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency FVIIItesting:Partial ParentalTest:Unknown Zygosity:NoZygosityAssertion CaseInfo HGNC:3546 Mutation:Intronic Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    11. ClingenBaseline 22 Oct 2026
      c.226G>C

      Case#: 41

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C <1% (Severe Phenotype)

      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: F9

      Variant: NM_000133.3:c.226G>C (p.Glu76Gln)

      ClinVar: NA

      CAID: CA414436160

      gnomAD: Not reported

      InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorIXDeficiency FIXtesting:Partial Mutation:Missense Zygosity:NoZygosityAssertion ParentalTest:Unknown CAID:CA414436160 CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    12. ClingenBaseline 22 Oct 2026
      c.1648C>T

      Case#: 13

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 25/21% (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.1648C>T (p.Arg550Cys)

      ClinVar: 10223 https://www.ncbi.nlm.nih.gov/clinvar/variation/10223/

      CAID: CA255113

      gnomAD: Not reported

      InheritancePattern:NoInheritanceAssertion Mutation:Missense CAID:CA255113 ClinVarID:10223 FVIIItesting:Partial DiseaseEntity:FactorVIIIDeficiency ParentalTest:Unknown Zygosity:NoZygosityAssertion CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    13. ClingenBaseline 22 Oct 2026
      c.5999–740T>C

      Case#: 26

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 33%, 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:c.5999-740T>C

      ClinVar: NA

      CAID: CA1139532039

      gnomAD: Not reported

      InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency Mutation:Missense ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CaseInfo HGNC:3546 CAID:CA1139532039 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    14. ClingenBaseline 22 Oct 2026
      c.1052G>A

      Case#: 39

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C <1% (Severe Phenotype)

      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: F9

      Variant: NM_000133.3:c.1052G>A (p.Gly351Asp)

      ClinVar: NA

      CAID: CA414445595

      gnomAD: Not reported

      CAID:CA414445595 DiseaseEntity:FactorIXDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown Mutation:Missense InheritancePattern:NoInheritanceAssertion FIXtesting:Partial CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    15. ClingenBaseline 22 Oct 2026
      c.6046C>T

      Case#: 27

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 4% (Moderate 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.6046C>T (p.Arg2016Trp)

      ClinVar: 10304 https://www.ncbi.nlm.nih.gov/clinvar/variation/10304/

      CAID: CA255197

      gnomAD: Not reported

      DiseaseEntity:FactorVIIIDeficiency Mutation:Missense ClinVarID:10304 CAID:CA255197 InheritancePattern:NoInheritanceAssertion ParentalTest:Unknown FVIIItesting:Partial Zygosity:NoZygosityAssertion CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    16. ClingenBaseline 22 Oct 2026
      c.6750A>C

      Case#: 35

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 24/32/19/17/35%, 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:c.6750A>C (p.Gln2250His)

      ClinVar: NA

      CAID: CA414904711

      gnomAD: Not reported

      CAID:CA414904711 InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion FVIIItesting:Partial ParentalTest:Unknown DiseaseEntity:FactorVIIIDeficiency Mutation:Missense CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    17. ClingenBaseline 22 Oct 2026
      c.5936G>A

      Case#: 25

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 21/17%, 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:c.5936G>A (p.Gly1979Glu)

      ClinVar: NA

      CAID: CA414905839

      gnomAD: Not reported

      DiseaseEntity:FactorVIIIDeficiency Mutation:Missense CAID:CA414905839 InheritancePattern:NoInheritanceAssertion ParentalTest:Unknown FVIIItesting:Partial Zygosity:NoZygosityAssertion CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    18. ClingenBaseline 22 Oct 2026
      c.157G>A

      Case#: 40

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C <1% (Severe Phenotype)

      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: F9

      Variant: NM_000133.3:c.157G>A (p.Glu53Lys)

      ClinVar: NA

      CAID: CA414435726

      gnomAD: Not reported

      CAID:CA414435726 InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency Mutation:Missense Zygosity:NoZygosityAssertion FIXtesting:Partial ParentalTest:Unknown CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    19. ClingenBaseline 22 Oct 2026
      c.1025C>T

      Case#: 48

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C 3% (Moderate Phenotype)

      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: F9

      Variant: NM_000133.3(F9):c.1025C>T (p.Thr342Met)

      ClinVar: 10607 https://www.ncbi.nlm.nih.gov/clinvar/variation/10607/

      CAID: CA255381

      gnomAD: Not reported

      ClinVarID:10607 CAID:CA255381 DiseaseEntity:FactorIXDeficiency InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion Mutation:Missense FIXtesting:Partial ParentalTest:Unknown CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    20. ClingenBaseline 22 Oct 2026
      c.6506G>A

      Case#: 31

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 17/25%, Mild Phenotype, 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.6506G>A (p.Arg2169His)

      ClinVar: 10315 https://www.ncbi.nlm.nih.gov/clinvar/variation/10315/

      CAID: CA255208

      gnomAD: Not reported

      DiseaseEntity:FactorVIIIDeficiency Mutation:Missense CAID:CA255208 FVIIItesting:Partial InheritancePattern:NoInheritanceAssertion ParentalTest:Unknown Zygosity:NoZygosityAssertion ClinVarID:10315 CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    21. ClingenBaseline 22 Oct 2026
      c.1010–842G>A

      Case#: 7

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 34/30/35% (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:c.1010-842G>A

      ClinVar: NA

      CAID: CA337336857

      gnomAD: MAF in Ashkenazi Jewish population 0.01105<br>https://gnomad.broadinstitute.org/variant/X-154195804-C-T

      InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion FVIIItesting:Partial ParentalTest:Unknown CaseInfo HGNC:3546 Mutation:Intronic Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    22. ClingenBaseline 22 Oct 2026
      c.5954G>A

      Case#: 24

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 23/18%, 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.5954G>A (p.Arg1985Gln)

      ClinVar: 618098 https://www.ncbi.nlm.nih.gov/clinvar/variation/618098/

      CAID: CA414905715

      gnomAD: MAF for Arg1985Gln in the European (non-Finnish) population 0.00001224<br> https://gnomad.broadinstitute.org/variant/X-154132225-C-T?dataset=gnomad_r2_1

      InheritancePattern:NoInheritanceAssertion Mutation:Missense CAID:CA414905715 DiseaseEntity:FactorVIIIDeficiency FVIIItesting:Partial ParentalTest:Unknown Zygosity:NoZygosityAssertion ClinVarID:618098 HGNC:3546 CaseInfo Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    23. ClingenBaseline 22 Oct 2026
      c.1336C>T

      Case#: 11

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C <1% (Severe Phenotype), No inhibitors present

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

      Gene: F8

      Variant: NM_000132.3(F8):c.1336C>T (p.Arg446Ter)

      ClinVar: 10145 https://www.ncbi.nlm.nih.gov/clinvar/variation/10145/

      CAID: CA255038

      gnomAD: Not reported

      InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion Mutation:Nonsense CAID:CA255038 FVIIItesting:Partial ParentalTest:Unknown DiseaseEntity:FactorVIIIDeficiency ClinVarID:10145 CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    24. ClingenBaseline 21 Oct 2026
      c.5953C>T

      Case#: 23

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C <1% (Severe Phenotype), No inhibitors present

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

      Gene: F8

      Variant: NM_000132.3(F8):c.5953C>T (p.Arg1985Ter)

      ClinVar: 10300 https://www.ncbi.nlm.nih.gov/clinvar/variation/10300/

      CAID: CA255191

      gnomAD: Not reported

      InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency FVIIItesting:Partial Mutation:Nonsense ClinVarID:10300 CAID:CA255191 ParentalTest:Unknown Zygosity:NoZygosityAssertion CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    25. ClingenBaseline 21 Oct 2026
      c.6977G>A

      Case#: 37

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 36%, 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.6977G>A (p.Arg2326Gln)

      ClinVar: 10126 https://www.ncbi.nlm.nih.gov/clinvar/variation/10126/

      CAID: CA255027

      gnomAD: Not reported

      InheritancePattern:NoInheritanceAssertion Mutation:Missense CAID:CA255027 ClinVarID:10126 DiseaseEntity:FactorVIIIDeficiency FVIIItesting:Partial ParentalTest:Unknown Zygosity:NoZygosityAssertion HGNC:3546 CaseInfo Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    26. ClingenBaseline 21 Oct 2026
      c.197A>T

      Case#: 1

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 21% (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:c.197A>T (p.Lys66Ile)

      ClinVar: NA

      CAID: CA414920295

      gnomAD: Not reported

      InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414920295 FVIIItesting:Partial ParentalTest:Unknown CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    27. ClingenBaseline 21 Oct 2026
      c.5213delG

      Case#: 21

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C <=1% (Severe Phenotype), No inhibitors present

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

      Gene: F8

      Variant: NM_000132.3:c.5213del

      ClinVar: NA

      CAID: CA1139532038

      gnomAD: Not reported

      InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion FVIIItesting:Partial ParentalTest:Unknown DiseaseEntity:FactorVIIIDeficiency Mutation:Frameshift CaseInfo HGNC:3546 CAID:CA1139532038 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
  12. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutation detection and inhibitor risk in Iranian patients with Hemophilia A: Six novel mutations
    12
    1. ClingenBaseline 23 Oct 2026
      S8

      Case#: S8, Iranian

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: Family history of HA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125, HP:0005261

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed

      Gene: F8

      Variant: NA

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Intronic ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 23 Oct 2026
      S16

      Case#: S16, Iranian

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125, HP:0005261

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed

      Gene: F8

      Variant: NA

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Intronic inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 22 Oct 2026
      S20

      Case#: S20, Iranian

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125, HP:0005261

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed

      Gene: F8

      Variant: NM_000132.3:c.2013_2015del

      LegacyVariant:

      ClinVar: No

      CAID: CA873350278

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:InframeDel CAID:CA873350278 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 22 Oct 2026
      S29

      Case#: S29, Iranian

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 30%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed

      Gene: F8

      Variant: NM_000132.3:c.2110C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA10568366

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Missense CAID:CA10568366 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 22 Oct 2026
      S26

      Case#: S26, Iranian

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Mucosal bleeding

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed

      Gene: F8

      Variant: NM_000132.3:c.3943delA

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Frameshift UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    6. ClingenBaseline 22 Oct 2026
      S23

      Case#: S23, Iranian

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125, HP:0005261

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed

      Gene: F8

      Variant: NA

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Intronic inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    7. ClingenBaseline 22 Oct 2026
      S5

      Case#: S5, Iranian

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Mucosal bleeding

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed

      Gene: F8

      Variant: NM_000132.3:c.1010‐2A>G

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Splice UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    8. ClingenBaseline 22 Oct 2026
      S15

      Case#: S15, Iranian

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: Family history of HA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125, HP:0005261

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed

      Gene: F8

      Variant: NA

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Intronic inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    9. ClingenBaseline 22 Oct 2026
      S12

      Case#: S12, Iranian

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: Family history of HA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125, HP:0005261

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed

      Gene: F8

      Variant: NM_000132.3:c.del exons8_9

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Large ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    10. ClingenBaseline 22 Oct 2026
      S19

      Case#: S19, Iranian

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Mucosal bleeding

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed

      Gene: F8

      Variant: NA

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Intronic inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    11. ClingenBaseline 21 Oct 2026
      S25

      Case#: S25, Iranian

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: Family history of HA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Mucosal bleeding

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed

      Gene: F8

      Variant: NM_000132.3:c.3870dupA

      LegacyVariant:

      ClinVar: No

      CAID: CA645616770

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Frameshift CAID:CA645616770 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    12. ClingenBaseline 21 Oct 2026
      S7

      Case#: S7, Iranian

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Mucosal bleeding, Inhibitor present

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed

      Gene: F8

      Variant: NM_000132.3:c.1444‐1G>T

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Splice UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    Visit annotations in context

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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7752620/
  13. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative
    2
    1. ClingenBaseline 23 Oct 2026
      Click here for additional data file.

      Case#: N/A

      DiseaseAssertion: Hemophilia B (severity not specified)

      FamilyInfo: Not provided

      ParentalTesting: Not provided

      CasePresentingHPOs: Not provided

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.86C>T (p.Thr29Ile)

      ClinVar: Absent

      CAID: CA414434494

      gnomAD: Absent/NotReported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414434494 FIXTesting:None ParentalTest:Unknown inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 21 Oct 2026
      Click here for additional data file

      Case#: N/A

      DiseaseAssertion: Hemophilia B (severity not specified)

      FamilyInfo: Not provided

      ParentalTesting: Not provided

      CasePresentingHPOs: Not provided

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.68T>C (p.Leu23Pro)

      ClinVar: Absent

      CAID: CA414434403

      gnomAD: Absent/NotReported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414434403 FIXTesting:None ParentalTest:Unknown inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5727804/
  14. 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
    8
    1. ClingenBaseline 23 Oct 2026
      A12

      Case#: A12

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 28, FVIII:AG = 54, 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.2045T>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414909247

      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:CA414909247 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 23 Oct 2026
      A16

      Case#: A16

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 7, FVIII:AG = 23, 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.5879G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA255019

      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:CA255019 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 22 Oct 2026
      B1 – B13

      Case#: B1 - B13

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C Chr = 17, FVIII:AG = 18, 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.940A>G

      LegacyVariant:

      ClinVar: No

      CAID: CA255084

      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:CA255084 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 22 Oct 2026
      B30. B31

      Case#: B30, B31

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C Chr = 6, FVIII:AG = 10, 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.2161A>C, NM_000132.4:c.2161A>T

      LegacyVariant:

      ClinVar: No

      CAID: CA414903738, CA414903741

      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 MultipleGeneVariants Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 22 Oct 2026
      B73

      Case#: B73

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C Chr = 41, FVIII:AG = 113, 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.5123G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA255154

      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:CA255154 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    6. ClingenBaseline 22 Oct 2026
      A1

      Case#: A1

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 7, FVIII:AG = 25, 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.398A>G

      LegacyVariant:

      ClinVar: No

      CAID: CA255061

      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:CA255061 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    7. 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
    8. 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
    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
  15. haematologica.org haematologica.org
    Molecular genotyping of the Italian cohort of patients with hemophilia B
    5
    1. ClingenBaseline 23 Oct 2026
      identify the causative mutation

      Case#: Belvini_Proband_13 (male, Italian)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.110C>A (p.Ala37Asp)

      ClinVar: Absent

      CAID: CA414435430

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414435430 ParentalTest:Unknown DiseaseSeverity:Severe FIXTesting:None inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 23 Oct 2026
      mutation

      Case#: Belvini_Proband_16 (Italian)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant:NM_000133.4:c.135G>C (p.Lys45Asn)

      ClinVar: Absent

      CAID: CA414435574

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414435574 ParentalTest:Unknown FIXTesting:None DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 22 Oct 2026
      identify the causative mutation

      Case#: Belvini_Proband_7 (Italian)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant:NM_000133.4:c.83G>A (p.Cys28Tyr)

      LegacyVariant: c.112G>A (p.Cys-19Tyr )

      ClinVar: Absent

      CAID: CA414434483

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414434483 ParentalTest:Unknown DiseaseSeverity:Severe FIXTesting:None inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 22 Oct 2026
      identify the causative mutation

      Case#: Belvini_Proband_6 (Italian)

      DiseaseAssertion: Mild Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.82T>C (p.Cys28Arg)

      LegacyVariant: c.11T>C (p.Cys-19Arg )

      ClinVar: 10657

      CAID: CA255450

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA255450 ParentalTest:Unknown DiseaseSeverity:Mild FIXTesting:None inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 22 Oct 2026
      identify the causative mutation

      Case#: Belvini_Proband_4 (male, Italian)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.59T>C (p.Leu20Ser)

      ClinVar: Absent

      CAID: CA414434363

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414434363 ParentalTest:Unknown DiseaseSeverity:Severe FIXTesting:None inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    haematologica.org/article/view/3523
  16. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Usefulness of an in vitro cellular expression model for haemophilia A carrier diagnosis: illustration with five novel mutations in the F8 gene in women with isolated factor VIII:C deficiency
    2
    1. ClingenBaseline 23 Oct 2026
      Both p.Leu107His substitution (patient P1)

      Case#: P1 (female)

      DiseaseAssertion: Carrier

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0003125, HP:0004846, HP:0001892

      CaseHPOFreeText: Low FVIII levels (significant decrease in FVIII:C 1.4% ± 0.2 and FVIII:Ag levels 3.9% ± 0.2), prolonged bleeding after surgery, mild bleeding tendency

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: Molecular Analysis included a southern blot assay, PCR, dHPLC and a multiplex ligation-dependent probe amplification analysis. Plasmid mutagenesis, plasmid transfection and in silico analysis were also performed.

      Gene: F8

      Variant: NM_000132.4:c.320T>A

      CAID: CA414920017

      gnomAD: Absent/Not Reported

      Gene:F8 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorVIIIDeficiency Mutation:Missense CAID:CA414920017 ParentalTest:Unknown Zygosity:Heterozygous inferred_gene_hgnc:3546 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 23 Oct 2026
      The p.Leu2032Pro

      Case Info: P6 (female)

      DiseaseAssertion: Carrier

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0003125, HP:0001928, HP:0001892

      CaseHPOFreeText: Low FVIII levels (in vitro results were similar to the WT control and led to a normal specific activity (82.7% ± 9.0)), abnormal blood coagulation, mild bleeding tendency

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      CasePreviousTesting: Molecular Analysis included a southern blot assay, PCR, dHPLC and a multiplex ligation-dependent probe amplification analysis. Plasmid mutagenesis, plasmid transfection and in silico analysis were also performed.

      Gene: F8

      Variant: NM_000132.4:c.6095T>C

      CAID: CA414904631

      gnomAD: Absent/Not Reported

      Gene:F8 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorVIIIDeficiency Mutation:Missense CAID:CA414904631 Zygosity:Heterozygous ParentalTest:Unknown inferred_gene_hgnc:3546 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/hae.12651
  17. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations
    1
    1. ClingenBaseline 23 Oct 2026

      Case#: Guo_Family 2_Proband 1 (Chinese, assumed male)

      DiseaseAssertion: Moderate Hemophilia B

      FamilyInfo: None

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: FIX:Ag: 1.6%, FIX:C: 2.1%

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.59T>C (p.Leu20Ser)

      ClinVar: Absent

      CAID: CA414434363

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414434363 FIXTesting:Full ParentalTest:Unknown DiseaseSeverity:Moderate ExperimentalAssay inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/pdf/10.1111/hae.12534
  18. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Insight into molecular changes of the FIX protein in a series of Italian patients with haemophilia B
    2
    1. ClingenBaseline 23 Oct 2026

      Case#: IG13 (Italian, assumed male)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: Not provided

      ParentalTesting: Not provided

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity (FIX:C: <1%)

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.83G>A (p.Cys28Tyr)

      LegacyVariant: c.112G>A (p.Cys-19Tyr)

      ClinVar: Absent

      CAID: CA414434483

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414434483 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 21 Oct 2026

      Case#: IG38 (Italian, assumed male)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: Not provided

      ParentalTesting: Not provided

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity (FIX:C: <1%, FIX:Ag: 20)

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.127C>T (p.Arg43Trp)

      LegacyVariant: c.16364C>T (p.Arg-4Trp)

      ClinVar: 811505

      CAID: CA414435537

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435537 FIXTesting:Full ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2006.01275.x
  19. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    297-15.indd
    1
    1. ClingenBaseline 23 Oct 2026
      9-month old boy was diagnosed with severe haemophilia B

      Case1: Male, 9-months at time of diagnosis

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0001933 (Subcutaneous hemorrhage), HP:0007420 (Spontaneous hematomas), HP:0012233 (Intramuscular hematoma), HP:0005261 (Joint hemorrhage)

      CaseHPOFreeText: FIX: C <1%, recurrent anaphylactic reactions to FIX (abdominal pain, respiratory arrest, and severe hypotension)

      CasePreviousTesting: F9 analysis (revealed a point mutation at exon H)

      Gene: F9

      Variant: NM_000133.3(F9):c.880C>T (p.Arg294Ter)

      LegacyVariant: g 30863 C>T; Arg 248 stop

      ClinVar: 10587 https://www.ncbi.nlm.nih.gov/clinvar/variation/10587/

      gnomAD: Not reported

      CaseInfo Gene:F9 HGNC:3551 DiseaseEntity:FactorIXDeficiency InheritancePattern:NoInheritanceAssertion Mutation:Missense FIXtesting:Partial Zygosity:NoZygosityAssertion ParentalTest:Unknown ClinVarID:10587 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC5111390/
  20. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    FIX mutation spectrum in haemophilia B patients from Jordan: identification of three novel mutations
    1
    1. ClingenBaseline 23 Oct 2026
      g.6365G>A

      Case#: Awidi_Variant_1 (9 patients, 2 families)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: Positive family history

      ParentalTesting: Positive family history

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: None

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.128G>A (p.Arg43Gln)

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Zygosity:NoZygosityAssertion CAID:CA414435539 ParentalTest:Unknown Mutation:Missense DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2010.02365.x
  21. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations in Peruvian patients with hemophilia B: pattern of mutation in AmerIndians is similar to the putative endogenous germline pattern
    2
    1. ClingenBaseline 23 Oct 2026
      mutation

      Case#: Heit_Proband_HB541 (assumed male, AmerIndian from Peru)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity (FIX:C: <1 %)

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.128G>A (p.Arg43Gln)

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435539 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 22 Oct 2026
      mutation

      Case#: Heit_Proband_HB541 (assumed male, AmerIndian from Peru)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity (FIX:C: <1%

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.137G>C (p.Arg46Thr)

      LegacyVariant: c.6374 G>C (p.Arg-1Thr)

      ClinVar: Absent/Not Reported

      CAID: CA414435590

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Zygosity:NoZygosityAssertion CAID:CA414435590 ParentalTest:Unknown FIXTesting:Partial DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    pubmed.ncbi.nlm.nih.gov/9600455/
  22. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity
    1
    1. ClingenBaseline 23 Oct 2026
      Table S3. F9 mutations

      Case#: Miller_Proband 2 (male)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.128G>A (p.Arg43Gln)

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414435539 Zygosity:NoZygosityAssertion ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2011.02700.x
  23. onlinelibrary.wiley.com onlinelibrary.wiley.com
    hae14141-sup-0001-tables1.pdf
    1
    1. ClingenBaseline 23 Oct 2026
      1

      Case#: 1, male, 30 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      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.36C>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414920668

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Nonsense Zygosity:Hemizygous ParentalConfirmation:Maternity CAID:CA414920668 SupplementalData FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    onlinelibrary.wiley.com/action/downloadSupplement
  24. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Characterization of genetic defects of hemophilia B of Chinese origin
    1
    1. ClingenBaseline 23 Oct 2026
      genetic defects

      Case#: Lin_Patient 3 (assumed male, Chinese origin)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: None

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity (FIX:C: <1 ; FIX:Ag: 38)

      CaseNotHPOs: N/A

      CasePreviousTesting: None

      Gene: F9

      Variant: NM_000133.4:c.128G>A (p.Arg43Gln)

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414435539 Zygosity:NoZygosityAssertion ParentalTest:Unknown FIXTesting:Full DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    pubmed.ncbi.nlm.nih.gov/1796396/
  25. illiad.lib.unc.edu illiad.lib.unc.edu
    untitled
    1
    1. ClingenBaseline 23 Oct 2026
      2

      Case#: Quadros_Proband_ ID_#2

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: None

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: None

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.112A>C (p.Asn38His)

      ClinVar: Absent

      CAID: CA414435439

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414435439 Zygosity:NoZygosityAssertion ParentalTest:Unknown FIXTesting:None DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    illiad.lib.unc.edu/NOH/illiad.dll
  26. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    The human factor IX gene as germline mutagen test: Samples from mainland China have the putatively endogenous pattern of mutation
    2
    1. ClingenBaseline 23 Oct 2026

      Case#: Liu_Proband_316 (assumed male; Chinese)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.82T>G (p.Cys28Gly)

      ClinVar: Absent

      CAID: CA414434482

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414434482 FIXTesting:None ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 22 Oct 2026

      Case#: Liu_Proband_322 (assumed male; Chinese)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.59T>C (p.Leu20Ser)

      ClinVar: Absent

      CAID: CA414434363

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414434363 FIXTesting:None ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/pdf/10.1002/1098-1004(200007)16:1<31::AID-HUMU6>3.0.CO
  27. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations
    1
    1. ClingenBaseline 22 Oct 2026
      Arg-4Gln

      Case#: 27HBT98 (Turkish; assumed male)

      DiseaseAssertion: Moderate Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: Not provided

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: Reduced factor IX activity (FIX:C: 2)

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.128G>A (p.Arg43Gln)

      LegacyVariant: c.6365 G>A (p.Arg-4Gln)

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435539 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Moderate inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1046/j.1365-2141.2003.04141.x
  28. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations
    1
    1. ClingenBaseline 22 Oct 2026
      c.59T>Cp.Leu20Ser

      Case#: Huang_Proband_2

      DiseaseAssertion: Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.59T>C (p.Leu20Ser)

      ClinVar: Absent

      CAID: CA414434363

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414434363 FIXTesting:None ParentalTest:Unknown inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC7667291/
  29. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Targeted re-sequencing of F8, F9 and VWF: Characterization of Ion Torrent data and clinical implications for mutation screening
    1
    1. ClingenBaseline 22 Oct 2026
      HB_140

      Case#: HB_140 (assumed male)

      DiseaseAssertion: Moderate-Severe Hemophilia B

      FamilyInfo: Not provided

      ParentalTesting: Not provided

      CasePresentingHPOs: N/A

      CasePresentingHPOsFreeText: Moderate-Severe Hemophilia B, Quality parameters given as read depth and strand bias for the mutated positions: 1575/0.48

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.83G>A (p.Cys28Tyr)

      ClinVar: Absent

      CAID: CA414434483

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414434483 FIXTesting:None ParentalTest:Unknown DiseaseSeverity:Moderate-Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC6485758/
  30. link.springer.com link.springer.com
    Variants in FIX propeptide associated with vitamin K antagonist hypersensitivity: functional analysis and additional data confirming the common founder mutations
    4
    1. ClingenBaseline 22 Oct 2026
      Thr37

      Case#: Pezeshkpoor_Patient_L (male,. 70 y/o, from Switzerland)

      DiseaseAssertion: Hemophilia B

      FamilyInfo: Mutation was identified in two brothers and six female relatives

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: bleeding episodes during VKA therapy, low FIX:C levels

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.109G>A (p.Ala37Thr)

      ClinVar: 804089

      CAID: CA10529736

      gnomAD: allele Frequency in population where variant was found in the highest (South Asian population): 0.0001128

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA10529736 FIXTesting:Full ParentalTest:Unknown inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 22 Oct 2026
      Thr37 mutation

      Case#: Pezeshkpoor_Patient_P (male, 68 y/o, from Switzerland)

      DiseaseAssertion: Moderate Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: diffuse subcutaneous bleeding, low FIX:C levels (3%), international normalized ratio (INR) of 3.3, a prolonged aPTT of 88 s, reduced vitamin K-dependent coagulation factors

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.109G>A (p.Ala37Thr)

      ClinVar: 804089

      CAID: CA10529736

      gnomAD: Allele Frequency in population where variant was found in the highest (South Asian population): 0.0001128

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA10529736 FIXTesting:Full ParentalTest:Unknown DiseaseSeverity:Moderate inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 22 Oct 2026
      Val37 mutation.

      Case#: Patient R (male, 83 y/o)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858, HP:0012233

      CaseHPOsFreeText: reduced factor IX activity (FIX:C: 2.4%), extensive subcutaneous bleeding

      CaseNotHPOs: None

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.110C>T (p.Ala37Val)

      ClinVar: Absent

      CAID: CA414435437

      gnomAD: Allele Frequency (European-non Finnish): 0.00002186

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435437 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 21 Oct 2026
      Thr37

      Case#: Pezeshkpoor_Patient_N (male, 68 y/o, from Switzerland)

      DiseaseAssertion: Hemophilia B

      FamilyInfo: The daughter of the patient has the mutation, while the brother of the patient does not.

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: mechanical aoritc valve replacement, low FIX:C levels

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.109G>A (p.Ala37Thr)

      ClinVar: 804089

      CAID: CA10529736

      gnomAD: Allele Frequency in population where variant was found in the highest (South Asian population): 0.0001128

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA10529736 FIXTesting:Full ParentalTest:Unknown inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    link.springer.com/article/10.1007/s00277-018-3264-2
  31. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    ajhg00106-0108.pdf
    1
    1. ClingenBaseline 22 Oct 2026
      ile 40-phe

      Case: E91M

      DiseaseAssertion: Hemophilia B

      FamilyInfo: Family E91M

      ParentalTesting: Not available

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Factor IX Coagulant: 30

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.19A>T

      LegacyVariant: c.48A>T (p.Ile7Phe)

      ClinVar: 367997

      CAID: CA10529708

      gnomAD: Filtering AF: 0.001461 (no homozygotes)

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense ParentalTest:Unknown CAID:CA10529708 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC1683422/pdf/ajhg00106-0108.pdf
  32. www.proquest.com www.proquest.com
    Factor IX mutations in Haemophilia B patients in Malaysia: a preliminary study - ProQuest
    1
    1. ClingenBaseline 22 Oct 2026
      6365G>A (R-4Q)

      Case#: Balraj_Proband (from Malaysia)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: None

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: None

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.128G>A (p.Arg43Gln)

      LegacyVariant: 6365 G>A (p.Arg-4Gln)

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Zygosity:NoZygosityAssertion Mutation:Missense CAID:CA414435539 ParentalTest:Unknown FIXTesting:None DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    proquest.com/docview/1030094611
  33. illiad.lib.unc.edu illiad.lib.unc.edu
    Secretion of wild&#x02010;type factor IX upon readthrough over <i>F9</i> pre&#x02010;peptide nonsense mutations causing hemophilia B
    1
    1. ClingenBaseline 22 Oct 2026
      .Gly21Val)

      Case#: N/A

      DiseaseAssertion: Mild Hemophilia B

      FamilyInfo: None

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0001929

      CasePresentingHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: None

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.62G>T (p.Gly21Val)

      ClinVar: Absent

      CAID: CA414434385

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414434385 ParentalTest:Unknown DiseaseSeverity:Mild inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    illiad.lib.unc.edu/NOH/illiad.dll
  34. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    ircmj-16-6727.pdf
    1
    1. ClingenBaseline 22 Oct 2026
      16-year-old boy

      Case1: Male patient, 16-year-old, Tabriz Iran

      DiseaseAssertion: Moderate Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0005261 (Joint hemorrhage), HP:0030137 (Prolonged bleeding following circumcision)

      CasePreviousTesting: PCR-SSCP and PCR-CSGE was performed for all 26 exons with exon-intron boundaries of F8. Abnormal PCR product were directly sequenced.

      Gene: F8

      Variant: NM_000132.3(F8):c.4925A>G (p.Glu1642Gly)

      ClinVar: NA

      CAID: CA10568060

      gnomAD: MAF for Glu1642Gly in the East Asian population 0.0001346 <br /> https://gnomad.broadinstitute.org/variant/X-154157140-T-C

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA10568060 ParentalTest:Unknown InheritancePattern:NoInheritanceAssertion FVIIItesting:Partial inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC3964430/
  35. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954 → Leu substitution in the factor VIII A3 domain
    1
    1. ClingenBaseline 22 Oct 2026
      The patient was born in 1944; at the age of 7 he underwent a tonsillectomy, bled excessively and required a blood transfusion. He had dental extractions when he was 14 and bled for a week afterwards. At 25 he had a birthmark removed from his left shoulder and again bled excessively. At that time two-stage FVIII:C assays were performed and he was diagnosed as having mild haemophilia A with a FVIII:C level of 19%. 3 years later (in 1972) he presented with a large haematoma of the buttock after minor trauma and a two-stage assay reported a FVIII:C level of 11%. Interestingly, his APTT was always normal. In 1977 he had sebaceous cysts removed under the cover of FVIII concentrate. He received further concentrate in 1982 following an injury to his left thigh and 6 weeks later developed hepatitis (in retrospect hepatitis C). He has not had any further bleeding problems. At a recent routine visit his baseline FVIII:C level was checked with our (now routine) one-stage assay and found to be normal. Subsequently on three blood samples taken on different days we obtained the assay results shown in Table I. On the second of these samples the factor VIII antigen was measured by Immunozym ELISA (Techniclone, Dorking) and found to be 82 iu/dl.

      Case#: 77 year old male*

      DiseaseAssertion:Hemophilia A, mild

      FamilyInfo: Brother does not have hemophilia

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%, assay discrepancy present (OSA>CSA)

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: The factor VIII coding region was amplified into six overlapping segments from traces of mRNA and from genomic DNA and subsequently sequenced

      Gene: F8

      Variant: NM_000132.3:c.5918A>T

      LegacyVariant:

      ClinVar:

      CAID: CA414905984

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA>CSA PreviousTesting:None ParentalTest:Unknown InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA414905984 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1046/j.1365-2141.1999.01460.x
  36. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    blt-16-392.pdf
    1
    1. ClingenBaseline 22 Oct 2026
      a woman diagnosed as a HA carrier

      Case2: Female patient, blood group O

      DiseaseAssertion: Severe Hemophilia A from de novo mutation

      FamilyInfo: Family history of severe Hemophilia A, Son diagnosed with severe HA, Sibling has intron 22 inversion on F8 gene

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeRext: aPTT ratio 1.16 (within normal range ratio), FVIII:C 48% (low-normal)

      CasePreviousTesting: Molecular analysis that excluded intron 22 inversion (HA carrier), tested for intron 22 inversion (confirmed negative), tested for intron 1 inversion (found negative), sequenced the whole coding region of the F8 gene(c.1753-1G>A mutation found)

      Gene: F8

      Variant: NM_000132.3:c.1753-1G>A

      ClinVar: NA

      CAID: CA414911340

      gnomAD: Not reported

      CaseInfo Gene:F8 HGNC:3546 InheritancePattern:DeNovoAssertion DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion CAID:CA414911340 FVIIItesting:Partial ParentalTest:Unknown Mutation:Splice inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC6034774/
  37. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B
    1
    1. ClingenBaseline 22 Oct 2026
      (Leu24Pro)

      Case#: HB-KHF-04 (Male, Korean)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: Among the 33 patients, 13 had a family history (39%), while the rest of the patients did not (sporadic, 61%). 27 patients (82%) had the severe form of the disease, while 6 patients (18%) had the moderate form

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0003645, HP:0011858

      CaseHPOsFreeText: Prolonged partial thromboplastin time, reduced factor IX activity

      CaseNotHPOs: None

      CasePreviousTesting: aPTT and one-stage clotting assay at labs where patients were ascertained: FIX-deficient plasma (STA®-Deficient IX; Diagnostica Stago, Asnieres-sur-Seine, France; reference range, 60–150%) at Samsung Medical Center or HemosIL™ (Instrumentation Laboratory, Milan, Italy; reference range, 50–145%) at the Korea Hemophilia Foundation.

      Gene: F9

      Variant: NM_000133.4:c.71T>C (p.Leu24Pro)

      ClinVar: Absent

      CAID: CA414434410

      gnomAD: Absent/Not Reported

      Gene: F9 CaseInfo DiseaseEntity:FactorIXDeficiency InheritancePattern:X-Linked Zygosity:NoZygosityAssertion FIXTesting:Partial CAID:CA414434410 ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2008.01796.x
  38. link-springer-com.libproxy.lib.unc.edu link-springer-com.libproxy.lib.unc.edu
    Recurrent mutations in the factor IX gene: founder effect or repeat de novo events
    1
    1. ClingenBaseline 22 Oct 2026
      mutation

      Case#: Knobloch_Malmo_20 (assumed male, German)

      DiseaseAssertion: Moderate Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: None

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.127C>T (p.Arg43Trp)

      LegacyVariant: c.6364C>T (p.Arg-4Trp)

      ClinVar: 811505

      CAID: CA414435537

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435537 FIXTesting:None ParentalTest:Unknown DiseaseSeverity:Moderate inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    link-springer-com.libproxy.lib.unc.edu/article/10.1007/BF00216143
  39. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Fast and efficient mutation detection method using multiplex PCR and cycle sequencing--application to haemophilia B
    1
    1. ClingenBaseline 22 Oct 2026
      mutation

      Case#: Cases 1157, 1125, 1382, and 1434

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: In 16 cases, the family pedigree showed more than one affected individual (familial cases) and 12 cases were sporadic. In 17 cases, familial data was not available.

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity (Case 1157 FIX:C: <1; FIX:Ag: 38) (Case 1125 FIX:C: <1; FIX:Ag: n/a (Case 1382 FIX:C: <1; FIX:Ag: 1) Case 1434 FIX:C <1; FIX:Ag: n/a)

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.127C>T (p.Arg43Trp)

      LegacyVariant: c.6364C>T (p.Arg-4Trp)

      ClinVar: 811505

      CAID: CA414435537

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435537 ParentalTest:Unknown FIXTesting:Full DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    pubmed.ncbi.nlm.nih.gov/10739381/
  40. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Molecular characterization of haemophilia B patients in southern Brazil
    1
    1. ClingenBaseline 22 Oct 2026
      c.128G>T

      Case#: Meireles_Proband_3 (assumed male)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: None

      ParentalTesting: None

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CasePreviousTesting: None

      Gene: F9

      Variant: NM_000133.4:c.128G>T (p.Arg43Leu)

      ClinVar: 993549

      CAID: CA414435545

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Zygosity:NoZygosityAssertion Mutation:Missense CAID:CA414435545 FIXTesting:None ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/hae.13277
  41. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular defects in haemophilia B: detection by direct restriction enzyme analysis
    1
    1. ClingenBaseline 22 Oct 2026
      mutations

      Case#: Chan_Hong Kong 2 & Chan_Hong Kong 3 (Southern Chinese, assumed male)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: Carrier testing of at risk females in each family was completed by direct restriction enzyme analysis after determination of the specific FIX defect for the index patient

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity (Chan_Hong Kong 2 FIX:Ag: 0.93; FIX:C: 0.04) (Chan_Hong Kong 3 FIXAg: 0.82; FIX:C: 0.01)

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.128G>A (p.Arg43Gln)

      LegacyVariant: c.6365 G>A (p.Arg-4Gln)

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene: F9 CaseInfo Inherit DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435539 FIXTesting:Full ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    pubmed.ncbi.nlm.nih.gov/1680373/
  42. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Factor IX gene mutations in haemophilia B: a New Zealand population-based study
    1
    1. ClingenBaseline 22 Oct 2026
      mutations

      Case#: VAN DE Water_NZ 2 (New Zealand, assumed male)

      DiseaseAssertion: Moderate Hemophilia B

      FamilyInfo: In 22 of the 32 families the mutation resulted in alteration of a restriction enzyme site. In these cases, researchers developed a rapid PCR based diagnosis assay, which eliminated the need for extensive family studies (enabled successful prenatal and carrier diagnostic studies to be undertaken in 22 subjects from five families)

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity (2%)

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.128G>A (p.Arg43Gln)

      LegacyVariant: c.6365 G>A (p.Arg-4Gln)

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked Mutation:Missense CAID:CA414435539 Zygosity:NoZygosityAssertion FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Moderate inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    pubmed.ncbi.nlm.nih.gov/27213901/
  43. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Haplotype analysis of identical factor IX mutants using PCR
    1
    1. ClingenBaseline 22 Oct 2026
      mutations

      Case#: UK 130, Malmo 19, UK 134, Malmo 6, UK 129, Malmo 40, Malmo 20 (assumed male, from UK and Malmö, Sweden)

      DiseaseAssertion: UK 130: Moderate Hemophilia B Malmo 19: Moderate Hemophilia B UK 134: Severe Hemophilia B Malmo 6: Severe Hemophilia B UK 129: Moderate Hemophilia B Malmo 40: Moderate Hemophilia B Malmo 20: Moderate Hemophilia B

      FamilyInfo: None

      ParentalTesting: N/A

      CasePresentingHPOs: reduced factor IX activity

      CaseHPOsFreeText: UK 130 FIX:C: 1.6 Malmo 19 FIX:C: 2.3 ; FIX:AG: 36 UK 134 FIX:C: <1 Malmo 6 FIX:C: <1 ; FIX:AG: 26-35 UK 129 FIX:C: 4 Malmo 40 FIX:C: 1 ; FIX:AG: 30 Malmo 20 FIX:C: 2 ; FIX:AG: 27

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.127C>T (p.Arg43Trp)

      ClinVar: 811505

      CAID: CA414435537

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414435537 ParentalTest:Unknown FIXTesting:Full Zygosity:NoZygosityAssertion DiseaseSeverity:Moderate DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    pubmed.ncbi.nlm.nih.gov/1615486/
  44. pdf.sciencedirectassets.com pdf.sciencedirectassets.com
    A recoded view on the F9 p.Cys178Ter pathogenic mechanism
    1
    1. ClingenBaseline 22 Oct 2026
      p.Cys28Arg

      Case#: N/A

      DiseaseAssertion: Moderate/Mild Hemophilia B

      FamilyInfo: Not provided

      ParentalTesting: Not provided

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.82T>C (p.Cys28Arg)

      ClinVar: 10657

      CAID: CA255450

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA255450 ParentalTest:Unknown DiseaseSeverity:Moderate inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    pdf.sciencedirectassets.com/271043/1-s2.0-S0049384820X00028/1-s2.0-S0049384820300256/main.pdf
  45. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Analysis of F9 point mutations and their correlation to severity of haemophilia B disease
    1
    1. ClingenBaseline 22 Oct 2026
      C28Y

      Case#: N/A

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: None

      ParentalTesting: None

      CasePresentingHPOs: HP:0001929

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.83G>A (p.Cys28Tyr)

      ClinVar: Absent

      CAID: CA414434483

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414434483 ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2012.02848.x
  46. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular pathology of haemophilia B
    1
    1. ClingenBaseline 22 Oct 2026
      mutation

      Case#: Green_London_3 & Green_London_4 (assumed male)

      DiseaseAssertion: Severe Hemophillia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity (London 3: FIX:C:1, FIX:Ag: 48) (London 4: FIX:C:1, FIX:Ag: 45)

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.128G>A (p.Arg43Gln)

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435539 FIXTesting:Full ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    pubmed.ncbi.nlm.nih.gov/2743975/
  47. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Analysis of 18 novel mutations in the factor VIII gene
    1
    1. ClingenBaseline 21 Oct 2026
      IG1

      Case#: IG1, Italy

      DiseaseAssertion: Hemophilia A, severe (Table 1)

      FamilyInfo: Table 1 - female relative(s) tested

      ParentalTesting: No

      CasePresentingHPOs: HP:0003125

      (Reduced factor VIII activity)

      CaseHPOFreeText: FVIII:C <1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: Entire FVIII coding region, flanking splicing sites and promoter sequence were amplified. Mutational analyses included DHPLC followed by sequencing.

      Gene: F8

      Variant: NM_000132.3:c.98G>A p.(Trp33Ter)

      LegacyVariant: c.207G>A p.(Trp14Ter) [based on Antonarakis, 1998; PMID: 9450896]

      ClinVar: No

      CAID: CA414920533

      gnomAD: Not reported

      Gene:F8 CaseInfo InheritancePattern:Xlinked DiseaseEntity:FactorVIIIDeficiency Mutation:Nonsense Zygosity:NoZygosityAssertion CAID:CA414920533 FVIIItesting:Partial ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3546 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    onlinelibrary.wiley.com/doi/full/10.1046/j.1365-2141.2003.04494.x
  48. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as "spacer" elements
    1
    1. ClingenBaseline 21 Oct 2026
      missense mutation

      Case#: Family HB90

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: None

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity (FIX:C:4 (post therapy values but clinically severe by criteria of Eyster et al. (1980)

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.127C>T (p.Arg43Trp)

      ClinVar: 811505

      CAID: CA414435537

      gnomAD: Absent/Not Reported

      AdditionalCaseInfo: Previously reported by Giannelli et al. (1990)

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435537 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    pubmed.ncbi.nlm.nih.gov/1680287/
  49. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular pathology of haemophilia B: identification of five novel mutations including a LINE 1 insertion in Indian patients
    1
    1. ClingenBaseline 21 Oct 2026
      mutations

      Case#: B21 (assumed male, Indian origin)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: None

      ParentalTesting: N/A

      CasePresentingHPOs: reduced factor IX activity (FIX:C: 1.3%)

      CaseHPOsFreeText: HP:0011858

      CaseNotHPOs: N/A

      CasePreviousTesting: None

      Gene: F9

      Variant: NM_000133.4:c.127C>T (p.Arg43Trp)

      ClinVar: 811505

      CAID: CA414435537

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414435537 ParentalTest:Unknown Zygosity:NoZygosityAssertion FIXTesting:Partial DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    pubmed.ncbi.nlm.nih.gov/15086324/
  50. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    First report on UK database of haemophilia B mutations and pedigrees. UK Haemophilia Centres
    1
    1. ClingenBaseline 21 Oct 2026
      mutations

      Case#: Saad_Probands 86-92 (assumed male; from UK)

      DiseaseAssertion: Saad_Probands 86-87: no disease assertion made ; Saad_Probands 88, 90, 91: Moderate Hemophilia B ; Saad_Probands 89, 92: Severe Hemophilia B

      FamilyInfo: None

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity (Proband_88 FIX:C:1 ; FIX:Ag:48, Proband_ 89 FIX:C: <1, Proband_90: FIX:C: 1 ; FIX:Ag:45, Proband_91: FIX:C: 2, Proband_92: FIX:C:<1)

      CaseNotHPOs: None

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.128G>A (p.Arg43Gln)

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435539 ParentalTest:Unknown DiseaseSeverity:Moderate DiseaseSeverity:Severe FIXTesting:Partial inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    pubmed.ncbi.nlm.nih.gov/8091381/