449 Matching Annotations
  1. Oct 2026
  2. 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
    4
    1. 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
    2. 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
    3. 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
    4. 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
    Visit annotations in context

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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4220540/
  3. www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu
    Untitled document
    18
    1. ClingenBaseline 21 Oct 2026
      004–2007

      Case#: 004-2007

      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.3637delA

      LegacyVariant:

      ClinVar: No

      CAID: CA255146

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent 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
    2. ClingenBaseline 21 Oct 2026
      045–2002

      Case#: 045-2002

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 1% < FVIII:C < 5%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.3637delA

      LegacyVariant:

      ClinVar: No

      CAID: CA255146

      gnomAD:

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

      Case#: 003-2012

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.992T>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414917621

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414917621 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 21 Oct 2026
      003–2017

      Case#: 003-2017

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.4379dupA

      LegacyVariant:

      ClinVar: No

      CAID: CA645292749

      gnomAD:

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

      Case#: 020-2052

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.923C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255082

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255082 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    6. ClingenBaseline 21 Oct 2026
      003–2007

      Case#: 003-2007

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 1% < FVIII:C < 5%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.1475A>G

      LegacyVariant:

      ClinVar: No

      CAID: CA337334224

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA337334224 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    7. 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
    8. ClingenBaseline 21 Oct 2026
      087–2003

      Case#: 087-2003

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.5122C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA120919

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA120919 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    9. ClingenBaseline 21 Oct 2026
      038–2016

      Case#: 038-2016

      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:Absent AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    10. ClingenBaseline 21 Oct 2026
      020–2045

      Case#: 020-2045

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.458A>T

      LegacyVariant:

      ClinVar: No

      CAID: CA414919676

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414919676 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    11. 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
    12. 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
    13. ClingenBaseline 21 Oct 2026
      084–2006

      Case#: 084-2006

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.1910A>G

      LegacyVariant:

      ClinVar: No

      CAID: CA414909849

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414909849 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    14. ClingenBaseline 21 Oct 2026
      001–2045

      Case#: 001-2045

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.1462G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414912862

      gnomAD:

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

      Case#: 071-2032

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.308_319delGTGGTCATTACA

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

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

      Case#: 001-2028

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.4379dupA

      LegacyVariant:

      ClinVar: No

      CAID: CA645292749

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA645292749 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    17. ClingenBaseline 21 Oct 2026
      038–2020

      Case#: 038-2020

      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.3637delA

      LegacyVariant:

      ClinVar: No

      CAID: CA255146

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255146 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    18. ClingenBaseline 21 Oct 2026
      035–2017

      Case#: 035-2017

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

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

      LegacyVariant:

      ClinVar: No

      CAID: CA255129

      gnomAD:

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

    Tags

    Annotators

    URL

    www-thieme-connect-de.libproxy.lib.unc.edu/media/10.1055-s-00035024/202105/supmat/10-1055-s-0040-1721385-s200426.pdf
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A genetic analysis of 23 Chinese patients with hemophilia B
    3
    1. ClingenBaseline 21 Oct 2026
      12

      Case#: 12

      DiseaseAssertion: NA

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Na

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F9

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

      LegacyVariant:

      ClinVar: No

      CAID: CA414438950

      gnomAD:

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

      Case#: 22

      DiseaseAssertion: Hemophilia B, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C = 19.5%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F9

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

      LegacyVariant:

      ClinVar: No

      CAID: CA255340

      gnomAD:

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

      Case#: 13

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C = 3.7%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F9

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

      LegacyVariant:

      ClinVar: No

      CAID: CA414437883

      gnomAD:

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

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4842959/
  5. onlinelibrary.wiley.com onlinelibrary.wiley.com
    hae14141-sup-0001-tables1.pdf
    23
    1. 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
    2. 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
    3. 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
    4. 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
    5. 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
    6. 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
    7. 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
    8. 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
    9. 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
    10. 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
    11. 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
    12. 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
    13. 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
    14. 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
    15. 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
    16. 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
    17. 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
    18. 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
    19. 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
    20. 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
    21. 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
    22. 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
    23. ClingenBaseline 21 Oct 2026
      44

      Case#: 44, male, 9 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 1.7%

      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.1171C>T

      LegacyVariant:

      ClinVar: 10125

      CAID: CA255026

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Full Mutation:Missense ParentalConfirmation:Maternity CAID:CA255026 ClinVarID:10125 SupplementalData 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
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutation detection and inhibitor risk in Iranian patients with Hemophilia A: Six novel mutations
    1
    1. ClingenBaseline 21 Oct 2026
      S14

      Case#: S14, 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.575T>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414919417

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Missense CAID:CA414919417 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    Visit annotations in context

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    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7752620/