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  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    hae14141-sup-0001-tables1.pdf
    43
    1. ClingenBaseline 22 Oct 2026
      83

      Case#: 83, male, 17 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      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.5816C>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414906727

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity Inhibitor:Present SupplementalData CAID:CA414906727 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 22 Oct 2026
      68

      Case#: 68, male, 10 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      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.3780C>G

      LegacyVariant:

      ClinVar: 40999

      CAID: CA343865

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense SupplementalData CAID:CA343865 ClinVarID:40999 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 22 Oct 2026
      96

      Case#: 96, male, 55 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 1.2%

      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.6515C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA414907354

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414907354 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 22 Oct 2026
      145

      Case#: 145, male, 35 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.205_206delCT

      LegacyVariant:

      ClinVar: No

      CAID: CA873358609

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA873358609 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 22 Oct 2026
      150

      Case#: 150, male, 32 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.1786delT

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    6. ClingenBaseline 22 Oct 2026
      19

      Case#: 19, male, 48 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      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.4342C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA414918542

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseSeverity:ModerateHemophiliaA DiseaseEntity:FactorVIIIDeficiency Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense CAID:CA414918542 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    7. ClingenBaseline 22 Oct 2026
      178

      Case#: 178, male, 29 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      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.del exons8_9

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    8. ClingenBaseline 22 Oct 2026
      156

      Case#: 156, male, 23 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      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.3637delA

      LegacyVariant:

      ClinVar: No

      CAID: CA255146

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    9. ClingenBaseline 22 Oct 2026
      121

      Case#: 121, male, 16 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 2%

      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.5586+2T>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414908347

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Splice SupplementalData DiseaseEntity:FactorVIIIDeficiency CAID:CA414908347 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    10. ClingenBaseline 22 Oct 2026
      131

      Case#: 131, male, 23 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: na

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 1.5%

      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.4379dupA

      LegacyVariant:

      ClinVar: No

      CAID: CA645292749

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift SupplementalData CAID:CA645292749 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    11. ClingenBaseline 21 Oct 2026
      126

      Case#: 126, male, 33 years old, Chinese

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 7.9%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.2133_2134insT

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    12. ClingenBaseline 21 Oct 2026
      48

      Case#: 48, male, 37 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 1.2%

      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.1331A>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414914983

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense CAID:CA414914983 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    13. ClingenBaseline 21 Oct 2026
      38

      Case#: 38, male, 10 years old, Chinese

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 13%

      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.530A>G

      LegacyVariant:

      ClinVar: No

      CAID: CA414919515

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414919515 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    14. ClingenBaseline 21 Oct 2026
      59

      Case#: 59, male, 13 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 1.1%

      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.1913G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414909831

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense CAID:CA414909831 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    15. ClingenBaseline 21 Oct 2026
      57

      Case#: 57, male, 9 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 2%

      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.1909A>G

      LegacyVariant:

      ClinVar: No

      CAID: CA414909856

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414909856 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    16. ClingenBaseline 21 Oct 2026
      119

      Case#: 119, male, 10 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 3.3%

      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.5219+3A>G

      LegacyVariant:

      ClinVar: No

      CAID: CA873340051

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Splice ParentalConfirmation:Maternity SupplementalData CAID:CA873340051 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    17. ClingenBaseline 21 Oct 2026
      35

      Case#: 35, male, 19 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.385G>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414919872

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414919872 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    18. ClingenBaseline 21 Oct 2026
      155

      Case#: 155, male, 27 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 1.4%

      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.3637delA

      LegacyVariant:

      ClinVar: No

      CAID: CA255146

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    19. ClingenBaseline 21 Oct 2026
      28

      Case#: 28, male, 55 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.301G>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414920057

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414920057 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    20. ClingenBaseline 21 Oct 2026
      51

      Case#: 51, male, 8 years old, Chinese

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 22%

      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.1758G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414911269

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414911269 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    21. ClingenBaseline 21 Oct 2026
      67

      Case#: 67, male, 30 years old, Chinese

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 8.5%

      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.2167G>A

      LegacyVariant:

      ClinVar: 10246

      CAID: CA255138

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA255138 ClinVarID:10246 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    22. ClingenBaseline 21 Oct 2026
      169

      Case#: 169, male, 25 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      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.6254delA

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    23. ClingenBaseline 21 Oct 2026
      78

      Case#: 78, male, 44 years old, Chinese

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 21%

      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.5558C>T

      LegacyVariant:

      ClinVar: 10284

      CAID: CA255174

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA255174 ClinVarID:10284 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    24. ClingenBaseline 21 Oct 2026
      149

      Case#: 149, male, 37 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 2.1%

      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.1780delC

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    25. ClingenBaseline 21 Oct 2026
      116

      Case#: 116, male, 29 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.1443+2T>G

      LegacyVariant:

      ClinVar: No

      CAID: CA414914230

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Splice ParentalConfirmation:Maternity SupplementalData CAID:CA414914230 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    26. ClingenBaseline 21 Oct 2026
      173

      Case#: 173, male, 21 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      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.del exons1_26

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large ParentalConfirmation:Maternity SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    27. ClingenBaseline 21 Oct 2026
      86

      Case#: 86, male, 63 years old, Chinese

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 26%

      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.6380A>G

      LegacyVariant:

      ClinVar: No

      CAID: CA414899587

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense SupplementalData CAID:CA414899587 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    28. ClingenBaseline 21 Oct 2026
      135

      Case#: 135, male, 54 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      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.5961dupA

      LegacyVariant:

      ClinVar: No

      CAID: CA645251974

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA645251974 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    29. ClingenBaseline 21 Oct 2026
      82

      Case#: 82, male, 38 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      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.5720G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414907651

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414907651 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    30. ClingenBaseline 21 Oct 2026
      55

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

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 17%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

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

      LegacyVariant:

      ClinVar: 10236

      CAID: CA255129

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA255129 ClinVarID:10236 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    31. ClingenBaseline 21 Oct 2026
      18

      Case#: 18, male, 15 years old, Chinese

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 20%

      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.3325C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA414897253

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense CAID:CA414897253 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    32. ClingenBaseline 21 Oct 2026
      144

      Case#: 144, male, 14 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 1.1%

      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.4320_4325delTAGAAA

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    33. ClingenBaseline 21 Oct 2026
      160

      Case#: 160, male, 16 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.3637delA

      LegacyVariant:

      ClinVar: No

      CAID: CA255146

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    34. ClingenBaseline 21 Oct 2026
      185

      Case#: 185, male, 29 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      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.del exon26

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large ParentalConfirmation:Maternity SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    35. ClingenBaseline 21 Oct 2026
      110

      Case#: 110, male, 9 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      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.7021G>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414896760

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414896760 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    36. ClingenBaseline 21 Oct 2026
      130

      Case#: 130, male, 16 years old, Chinese

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 17.5%

      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.3802dupC

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    37. ClingenBaseline 21 Oct 2026
      50

      Case#: 50, male, 50 years old, Chinese

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 16.3%

      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.1745G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414911614

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414911614 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    38. ClingenBaseline 21 Oct 2026
      95

      Case#: 95, male, 76 years old, Chinese

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 17%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.6506G>A

      LegacyVariant:

      ClinVar: 10315

      CAID: CA255208

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense SupplementalData CAID:CA255208 ClinVarID:10315 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    39. ClingenBaseline 21 Oct 2026
      33

      Case#: 33, male, 25 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 3.8%

      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.382T>C

      LegacyVariant:

      ClinVar: 811825

      CAID: CA414919878

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414919878 ClinVarID:811825 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    40. ClingenBaseline 21 Oct 2026
      103

      Case#: 103, male, 10 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      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.6635C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA414905841

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense SupplementalData CAID:CA414905841 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    41. ClingenBaseline 21 Oct 2026
      113

      Case#: 113, male, 27 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.388+5G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA873357439

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Splice ParentalConfirmation:Maternity SupplementalData CAID:CA873357439 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    42. ClingenBaseline 21 Oct 2026
      22

      Case#: 22, male, 30 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 3.1%

      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.6496C>T

      LegacyVariant:

      ClinVar: 10096

      CAID: CA255013

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense DiseaseSeverity:ModerateHemophiliaA CAID:CA255013 ClinVarID:10096 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    43. ClingenBaseline 21 Oct 2026
      72

      Case#: 72, male, 31 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 4.6%

      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.5399G>A

      LegacyVariant:

      ClinVar: 10274

      CAID: CA255162

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA255162 ClinVarID:10274 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    Visit annotations in context

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    URL

    onlinelibrary.wiley.com/action/downloadSupplement
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Assessment of the F9 genotype-specific FIX inhibitor risks and characterization of 10 novel severe F9 defects in the first molecular series of Argentine patients with haemophilia B
    10
    1. ClingenBaseline 22 Oct 2026
      21.

      Case#: 21

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C = 2%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.1136G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA255394

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA255394 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 22 Oct 2026
      15.

      Case#: 15

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C = 3.5%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by 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:Partial Mutation:Missense Inhibitor:Absent CAID:CA255368 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 21 Oct 2026
      14.

      Case#: 14

      DiseaseAssertion: Hemophilia B, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C = 10%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.835G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA277507

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:MildHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA277507 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 21 Oct 2026
      44.

      Case#: 44

      DiseaseAssertion: Hemophilia B, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.253-2A>G

      LegacyVariant:

      ClinVar: No

      CAID: CA414436483

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Splice Inhibitor:Absent CAID:CA414436483 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 21 Oct 2026
      20.

      Case#: 20

      DiseaseAssertion: Hemophilia B, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C = 6%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.1136G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA255394

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:MildHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA255394 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    6. ClingenBaseline 21 Oct 2026
      49.

      Case#: 49

      DiseaseAssertion: Hemophilia B, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.862_863delGA

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Inhibitor:Absent Mutation:Frameshift UnregisteredVariant inferred_gene_hgnc:3551 inferred_gene_source:RefSeq ClinGen Coag Fac Def VCEP
    7. ClingenBaseline 21 Oct 2026
      7.

      Case#: 7

      DiseaseAssertion: Hemophilia B, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.344A>G

      LegacyVariant:

      ClinVar: No

      CAID: CA414437636

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414437636 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    8. ClingenBaseline 21 Oct 2026
      28.

      Case#: 28

      DiseaseAssertion: Hemophilia B, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.1274T>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414447009

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414447009 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    9. ClingenBaseline 21 Oct 2026
      35.

      Case#: 35

      DiseaseAssertion: Hemophilia B, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C < 1%, Inhibitor present

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.223C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA340993

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Nonsense Inhibitor:Present CAID:CA340993 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    10. ClingenBaseline 21 Oct 2026
      36.

      Case#: 36

      DiseaseAssertion: Hemophilia B, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.535G>T

      LegacyVariant:

      ClinVar: No

      CAID: CA414440319

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Nonsense Inhibitor:Absent CAID:CA414440319 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC4220540/
  4. www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu
    Untitled document
    10
    1. ClingenBaseline 22 Oct 2026
      047–1013

      Case#: 047-1013

      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.1492G>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414912741

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FIXtesting:Partial SupplementalData CAID:CA414912741 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 22 Oct 2026
      048–1001

      Case#: 048-1001

      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: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 22 Oct 2026
      047–1008

      Case#: 047-1008

      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.1336C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255038

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Nonsense FIXtesting:Partial SupplementalData CAID:CA255038 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 21 Oct 2026
      050–1001

      Case#: 050-1001

      DiseaseAssertion: Hemophilia A, moderate

      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:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Missense FIXtesting:Partial SupplementalData CAID:CA255197 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 21 Oct 2026
      003–1002

      Case#: 003-1002

      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.493C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255065

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FIXtesting:Partial SupplementalData CAID:CA255065 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    6. ClingenBaseline 21 Oct 2026
      047–1007

      Case#: 047-1007

      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.1093T>G

      LegacyVariant:

      ClinVar: No

      CAID: CA414916885

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Nonsense FIXtesting:Partial SupplementalData CAID:CA414916885 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    7. ClingenBaseline 21 Oct 2026
      028–1001

      Case#: 028-1001

      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: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    8. ClingenBaseline 21 Oct 2026
      047–1001

      Case#: 047-1001

      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: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    9. ClingenBaseline 21 Oct 2026
      038–1003

      Case#: 038-1003

      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.331G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414919991

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FIXtesting:Partial SupplementalData CAID:CA414919991 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    10. ClingenBaseline 21 Oct 2026
      035–1003

      Case#: 035-1003

      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: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData Inhibitor:Absent inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    www-thieme-connect-de.libproxy.lib.unc.edu/media/10.1055-s-00035024/202105/supmat/10-1055-s-0040-1721385-s200426.pdf
  5. 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/
  6. 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/
  7. 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/
  8. www-thieme-connect-com.libproxy.lib.unc.edu www-thieme-connect-com.libproxy.lib.unc.edu
    Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes
    1
    1. ClingenBaseline 21 Oct 2026
      c.835G>A

      Case#: 47

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C 18/26% (Mild 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.835G>A (p.Ala279Thr)

      ClinVar: 216926 https://www.ncbi.nlm.nih.gov/clinvar/variation/216926/

      CAID: CA277507

      gnomAD: Not reported

      ClinVarID:216926 CAID:CA277507 InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorIXDeficiency Mutation:Missense FIXtesting:Partial ParentalTest:Unknown Zygosity:NoZygosityAssertion CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    www-thieme-connect-com.libproxy.lib.unc.edu/products/ejournals/pdf/10.1160/TH16-05-0375.pdf
  9. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genetic analysis of a hemophilia B family with a novel F9 gene mutation: A STROBE-compliant article
    1
    1. ClingenBaseline 21 Oct 2026
      3-year-old boy

      Case1: 3-year-old boy

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: The pathogenic mutation of F9 gene in this family was identified, Mother and Grandmother are HB carriers, Father tested negative. Pedigree shown in Figure 1.

      ParentalTesting: Sequences at the mutation locus in F9 genes were analyzed by Sanger sequencing.

      CasePresentingHPOs: NA

      CaseHPOFreeText: Hemorrhagic spots on his skin at birth, Gingival bleeding, APTT 66.5 s, FIX:C < 1%, FVIII:C 116.8%

      CasePreviousTesting: PCR amplification for coding and flanking sequences of F9 gene, PCR amplification products sequenced by Songon Biotech Co. Ltd.

      Gene: F9

      Variant: NM_000133.3:c.1232G>C (p.Ser411Thr)

      ClinVar: NA

      CAID: CA414446686

      gnomAD: NA

      CaseInfo FamilyInfo Gene:F9 HGNC:3551 DiseaseEntity:FactorIXDeficiency InheritancePattern:Xlinked Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414446686 FIXtesting:Partial ParentalTest:Both ParentalConfirmation:Maternity inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC6571360/
  10. 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 21 Oct 2026
      Arg-4Leu (Arg43Leu)

      Case#: HB-KHF-25 (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.128G>T (p.Arg43Leu)

      ClinVar: 993549

      CAID: CA414435545

      gnomAD: Absent/Not Reported

      Gene: F9 CaseInfo DiseaseEntity:FactorIXDeficiency InheritancePattern:X-Linked Zygosity:NoZygosityAssertion FIXTesting:Partial CAID:CA414435545 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
  11. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    Severe bleeding due to hypersensitivity to vitamin K antagonist caused by the c.109G>A (p.Ala37Thr) mutation in the F9 gene in a patient with mechanical heart valve prosthesis
    1
    1. ClingenBaseline 21 Oct 2026
      c.109G>A (p.Ala37Thr)

      Case#: Odnoczko_Case (male, 74 y/o, in Poland)

      DiseaseAssertion: Severe Hemophilia B (only in patients who receive vitamin K antagnoists (VKAs). The authors believe that during VKA therapy, the FIX activity is much lower than that of other vitamin K-dependent clotting factors for cases with this variant.

      FamilyInfo: Family history of bleeding diathesis was negative

      ParentalTesting:

      CasePresentingHPOs: HP:0012233, HP:0031364, HP:0001892

      CaseHPOsFreeText: left thigh & buttock hematoma, ecchymosis on extremeties with no mucosal bleeding, bleeding diathesis

      CasePreviousTesting: local labaratory blood tests revealed anemia (hemoglobin concentration 8 g/dl; ref. range 14–18 g/dl), prolongation of prothrombin time (PT) with International Normalized Ratio (INR) within the therapeutic range (between 2.0 and 3.0). The proband's activated partial thromboplastin time (APTT) was significantly (>2-folds) prolonged and FIX activity markedly decreased

      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:Hemizygous CAID:CA10529736 FIXTesting:Partial 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/S0049384818306443
  12. illiad.lib.unc.edu illiad.lib.unc.edu
    3072518.pdf
    1
    1. ClingenBaseline 21 Oct 2026

      Case#: Patient HB401 (Hispanic; Male)

      DiseaseAssertion: Moderate Hemophilia B

      FamilyInfo: None

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: FIX Coagulant Activity: 1%

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.50T>A (p.Ile17Asn)

      LegacyVariant: c.79T>A (p.Ile-30Asn)

      ClinVar: Absent

      CAID: CA414434315

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414434315 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Moderate inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    illiad.lib.unc.edu/NOH/illiad.dll
  13. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Identification of twenty‐one new mutations in the factor IX gene by SSCP analysis
    3
    1. ClingenBaseline 21 Oct 2026

      Case#: Patient 63 (Spanish origin; assumed male)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: Not available

      ParentalTesting: Not available

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: FIX:C = 3 (reduced factor IX activity)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: 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 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#: Patient 66 (Spanish origin; assumed male)

      DiseaseAssertion: Mild Hemophilia B

      FamilyInfo: Not available

      ParentalTesting: Not available

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: Factor IX: C = 30% (reduced factor IX activity)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4(F9):c.19A>T (p.Ile7Phe)

      LegacyVariant: c.48A>T (p.Ile-40Phe)

      ClinVar: 367997

      CAID: CA10529708

      gnomAD: Filtering AF: 0.0007752 (no homozygotes)

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA10529708 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Mild inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 21 Oct 2026

      Case#: Patient 72 (Spanish origin; assumed male)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: Not available

      ParentalTesting: Not available

      CasePresentingHPOs: HP:0011858

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

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: 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 FIXTesting:Partial 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/(SICI)1098-1004(1999)13:2<160::AID-HUMU9>3.0.CO
  14. 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 21 Oct 2026
      Arg-4Leu

      Case#: 37HBT150 (Turkish; assumed male)

      DiseaseAssertion: Moderate Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: Not provided

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: Reduced factor IX activity (FIX:C: 1.3)

      CasePreviousTesting: N/A

      Gene: F9

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

      LegacyVariant: c.6365 G>T (p.Arg-4Leu)

      ClinVar: 993549

      CAID: CA414435545

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435545 ParentalTest:Unknown FIXTesting:Partial 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
  15. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular characterization of factor IX gene mutations in 53 patients with haemophilia B in India
    1
    1. ClingenBaseline 21 Oct 2026
      mutation

      Case#: HB-125 (assumed male, India)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: None

      CasePresentingHPOs: HP:0011858

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

      CaseNotHPOs: None

      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 Zygosity:NoZygosityAssertion CAID:CA414435539 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/16270648/
  16. 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
    1
    1. ClingenBaseline 21 Oct 2026
      mutation

      Case#: Heit_Proband_HB535 (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.127C>T (p.Arg43Trp)

      LegacyVariant: c.6364C>T (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: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/9600455/
  17. www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu
    Factor IX p.A37V mutation causes severe bleeding in a patient with phenprocoumon therapy
    1
    1. ClingenBaseline 21 Oct 2026
      c.110C > T p (Ala37Val).

      Case#: Mülling_Proband_1 (55 y/o, male)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858, HP:0100584, HP:0002094

      CaseHPOsFreeText: Reduced factor IX activity (FIX activity: 3%), infective endocarditis, dyspnea

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: Absent

      CAID: CA414435437

      gnomAD: 0.00002186 in European (non-Finnish) population (highest frequency of variant found in this population)

      AdditionalCaseInfo: Patient developed severe bleeding under therapy with phenprocoumon, aPTT was prolonged, while factor IX activity was significantly reduced. Acquired hemophilia was excluded, due to missing detection of inhibitors

      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
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    www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu/pmc/articles/PMC8243751/