632 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    The Arg-4 mutant factor IX Strasbourg 2 shows a delayed activation by factor XIa
    1
    1. ClingenBaseline 24 Oct 2026
      mutant factor IX

      Case#: Salle_Proband_J-C L (male, 23 y/o, white)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: family history is negative for any haemostatic disorder

      ParentalTesting: family history is negative for any haemostatic disorder

      CasePresentingHPOs: HP:0011858, HP:0012233, HP:0000421

      CaseHPOsFreeText: reduced factor IX activity (FIX:C: <0.01 % FIX:Ag: 0.46), muscular haematoma, haemarthrosis, nose bleeding

      CaseNotHPOs: N/A

      CasePreviousTesting: None

      Gene: F9

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

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Zygosity:NoZygosityAssertion CAID:CA414435539 Mutation:Missense FIXTesting:Full DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    URL

    pubmed.ncbi.nlm.nih.gov/8295821/
  3. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Monitoring once-weekly recombinant factor IX prophylaxis in hemophilia B with thrombin generation assay and factor IX activity
    1
    1. ClingenBaseline 24 Oct 2026
      c.83G>A/p.Cys28Tyr

      Case#: Nummi_Proband_6 (assumed male)

      DiseaseAssertion: Moderate Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: None

      CasePresentingHPOs: HP:0001929 (FIX baseline clotting activity: 1

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: Absent

      CAID: CA414434483

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414434483 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Moderate inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/ijlh.12634
  4. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Missense mutations at ALA-10 in the factor IX propeptide: an insignificant variant in normal life but a decisive cause of bleeding during oral anticoagulant therapy
    1
    1. ClingenBaseline 24 Oct 2026

      Case#: Oldenburg Cases A, B and C (A: 66 y/o, B: 38 y/o, C: 30 y/o (all in Germany))

      DiseaseAssertion: Mild Hemophilia B

      FamilyInfo: No bleeding tendency noted in any of these patients family history

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: severe bleeding at each occasion of oral anticoagulation with phenoprocoumon, bleeding was located in the muscles of the upper leg (patients A and C) and scrotum, left calf and thigh musles (patient B), reduced factor IX levels

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

      LegacyVariant: p.Ala-10Thr

      ClinVar: 804089

      CAID: CA10529736

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

      AdditionalCaseInfo: all patients were unrelated up to the third generation. However, the parents of patients A and C emigrated from the same region in North-Eastern Europe (North Poland)

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA10529736 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Mild inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/pdf/10.1046/j.1365-2141.1997.2213036.x
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A genetic analysis of 23 Chinese patients with hemophilia B
    6
    1. ClingenBaseline 24 Oct 2026
      11

      Case#: 11

      DiseaseAssertion: Hemophilia B, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F9

      Variant: NM_000133.3:c.676C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255350

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense CAID:CA255350 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 23 Oct 2026
      20

      Case#: 20

      DiseaseAssertion: Hemophilia B, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F9

      Variant: NM_000133.3:c.252+1G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414436412

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Splice CAID:CA414436412 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 23 Oct 2026
      2

      Case#: 2

      DiseaseAssertion: Hemophilia B, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F9

      Variant: NM_000133.3:c.391+1G>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414438024

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Splice Inhibitor:NotReported CAID:CA414438024 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 23 Oct 2026
      15

      Case#: 15

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C = 2.6%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F9

      Variant: NM_000133.3:c.781T>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414443378

      gnomAD:

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

      Case#: 10

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C = 1.8%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F9

      Variant:

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

      ClinVar: No

      CAID: CA255344

      gnomAD:

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

      Case#: 4

      DiseaseAssertion: Hemophilia B, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F9

      Variant: NM_000133.3:c.520G>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414439517

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense Inhibitor:NotReported CAID:CA414439517 ToCheck inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4842959/
  6. www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu
    Untitled document
    32
    1. ClingenBaseline 24 Oct 2026
      004–2012

      Case#: 004-2012

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.3637delA

      LegacyVariant:

      ClinVar: No

      CAID: CA255146

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large 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
    2. ClingenBaseline 24 Oct 2026
      020–2063

      Case#: 020-2063

      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.558C>G

      LegacyVariant:

      ClinVar: No

      CAID: CA414919454

      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:CA414919454 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 24 Oct 2026
      001–2025

      Case#: 001-2025

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.986G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA255089

      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:CA255089 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 24 Oct 2026
      020–2038

      Case#: 020-2038

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

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

      LegacyVariant:

      ClinVar: No

      CAID: CA255129

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255129 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 24 Oct 2026
      015–2011

      Case#: 015-2011

      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.1241A>G

      LegacyVariant:

      ClinVar: No

      CAID: CA414915839

      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:CA414915839 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    6. ClingenBaseline 24 Oct 2026
      086–2006

      Case#: 086-2006

      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.1537G>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414912560

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414912560 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    7. ClingenBaseline 24 Oct 2026
      020–2013

      Case#: 020-2013

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.5368_5370delATC

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial UnregisteredVariant SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    8. ClingenBaseline 24 Oct 2026
      001–2041

      Case#: 001-2041

      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.2167G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA255138

      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:CA255138 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    9. ClingenBaseline 23 Oct 2026
      004–2009

      Case#: 004-2009

      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.1899G>T

      LegacyVariant:

      ClinVar: No

      CAID: CA414910251

      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:CA414910251 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    10. ClingenBaseline 23 Oct 2026
      003–2003

      Case#: 003-2003

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.5275G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414911087

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414911087 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    11. ClingenBaseline 23 Oct 2026
      020–2023

      Case#: 020-2023

      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.5312T>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414910786

      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:CA414910786 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    12. ClingenBaseline 23 Oct 2026
      002–2005

      Case#: 002-2005

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.217T>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414920251

      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:CA414920251 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    13. ClingenBaseline 23 Oct 2026
      060–2007

      Case#: 060-2007

      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.5399G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA255162

      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:CA255162 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    14. ClingenBaseline 23 Oct 2026
      044–2001

      Case#: 044-2001

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.6344delT

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial UnregisteredVariant SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    15. ClingenBaseline 23 Oct 2026
      022–2004

      Case#: 022-2004

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.1492G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA255109

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255109 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    16. ClingenBaseline 23 Oct 2026
      001–2039

      Case#: 001-2039

      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.5156T>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414913690

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414913690 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    17. ClingenBaseline 23 Oct 2026
      071–2029

      Case#: 071-2029

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.1697T>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414911721

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414911721 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    18. ClingenBaseline 23 Oct 2026
      002–2017

      Case#: 002-2017

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.941C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA414917829

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414917829 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    19. ClingenBaseline 23 Oct 2026
      071–2010

      Case#: 071-2010

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.1208A>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414916134

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414916134 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    20. ClingenBaseline 23 Oct 2026
      003–2024

      Case#: 003-2024

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

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

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.5399G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA255162

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255162 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    21. ClingenBaseline 23 Oct 2026
      060–2010

      Case#: 060-2010

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

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

      LegacyVariant:

      ClinVar: No

      CAID: CA255129

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorIXDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255129 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    22. ClingenBaseline 23 Oct 2026
      020–2024

      Case#: 020-2024

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.437A>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414919724

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414919724 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    23. ClingenBaseline 23 Oct 2026
      020–2006

      Case#: 020-2006

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.1492G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA255109

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255109 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    24. ClingenBaseline 23 Oct 2026
      035–2022

      Case#: 035-2022

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.5954G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414905715

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414905715 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    25. ClingenBaseline 23 Oct 2026
      020–2027

      Case#: 020-2027

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.5253A>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414911240

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414911240 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    26. ClingenBaseline 23 Oct 2026
      091–2008

      Case#: 091-2008

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 1% < FVIII:C < 5%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.142A>G

      LegacyVariant:

      ClinVar: No

      CAID: CA414920432

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414920432 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    27. ClingenBaseline 23 Oct 2026
      001–2051

      Case#: 001-2051

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 1% < FVIII:C < 5%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.2134C>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414904092

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414904092 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    28. ClingenBaseline 22 Oct 2026
      080–2002

      Case#: 080-2002

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.1649G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA255115

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255115 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    29. ClingenBaseline 22 Oct 2026
      038–2002

      Case#: 038-2002

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.5687_5690delCT

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

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

      Case#: 016-2001

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.901C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA414917990

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414917990 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    31. ClingenBaseline 22 Oct 2026
      003–2005

      Case#: 003-2005

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.5275delG

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

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

      Case#: 071-2007

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.1208A>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414916134

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414916134 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    URL

    www-thieme-connect-de.libproxy.lib.unc.edu/media/10.1055-s-00035024/202105/supmat/10-1055-s-0040-1721385-s200426.pdf
  7. oce-ovid-com.libproxy.lib.unc.edu oce-ovid-com.libproxy.lib.unc.edu
    Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia a in southern Italy | Ovid
    11
    1. ClingenBaseline 24 Oct 2026
      Table 1

      Case#: Cz21, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C <1%

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

      Gene: F8

      Variant: F8, IVS22 INV

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

      CAID: NA

      gnomAD: Not reported

      CaseInfo HGNC:3546 InheritancePattern:Xlinked DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ClinVarID:10150 FVIIItesting:Partial ParentalTest:Unknown Mutation:Intronic Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 24 Oct 2026
      Table 1

      Case#: Cz14, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C <1%

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

      Gene: F8

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

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

      CAID: CA255191

      gnomAD: Not reported

      InheritancePattern:Xlinked CaseInfo HGNC:3546 DiseaseEntity:FactorIXDeficiency ParentalTest:Unknown FVIIItesting:Partial Zygosity:NoZygosityAssertion ClinVarID:10300 CAID:CA255191 Gene:F8 Mutation:Nonsense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 23 Oct 2026
      Table 1

      Case#: Cz6, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Sporadic

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C <1%

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

      Gene: F8

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

      ClinVar: NA

      CAID: CA414891965

      gnomAD: Not reported

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

      Case#: Cz40, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C 2.5%

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

      Gene: F8

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

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

      CAID: CA873354114

      gnomAD: Not reported

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

      Case#: Cz5, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C 4%

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

      Gene: F8

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

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

      CAID: CA873354114

      gnomAD: Not reported

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

      Case#: Cz13, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C 4%

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

      Gene: F8

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

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

      CAID: CA873354114

      gnomAD: Not reported

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

      Case#: Cz7, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Sporadic

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C <1%

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

      Gene: F8

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

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

      CAID: CA255155

      gnomAD: Not reported

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

      Case#: Cz16, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Sporadic

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C 4%

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

      Gene: F8

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

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

      CAID: CA873354114

      gnomAD: Not reported

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

      Case#: Cz24, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Sporadic

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C 4%

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

      Gene: F8

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

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

      CAID: CA873354114

      gnomAD: Not reported

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

      Case#: Cz29, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Sporadic

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C <1%

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

      Gene: F8

      Variant: F8, IVS22 INV

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

      CAID: NA

      gnomAD: Not reported

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

      Case#: Cz1, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C 4%

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

      Gene: F8

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

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

      CAID: CA873354114

      gnomAD: Not reported

      InheritancePattern:Xlinked DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown ClinVarID:811357 CAID:CA873354114 FVIIItesting:Partial Mutation:Intronic CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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  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
    18
    1. ClingenBaseline 24 Oct 2026
      c.396A>C

      Case#: 3

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 18% (Mild Phenotype), No inhibitors present

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

      Gene: F8

      Variant: NM_000132.3(F8):c.396A>C (p.Glu132Asp)

      ClinVar: 10171 https://www.ncbi.nlm.nih.gov/clinvar/variation/10171/

      CAID: CA255060

      gnomAD: MAF for Glu132Asp in Other population 0.0003762<br> https://gnomad.broadinstitute.org/variant/X-154221416-T-G?dataset=gnomad_r2_1

      InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA255060 FVIIItesting:Partial ParentalTest:Unknown ClinVarID:10171 CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 24 Oct 2026
      c.1291T>G

      Case#: 41

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C 2/2% (Moderate Phenotype)

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

      Gene: F9

      Variant: NM_000133.3:c.1291T>G (p.Trp431Gly)

      ClinVar: NA

      CAID: CA414447127

      gnomAD: Not reported

      CAID:CA414447127 Mutation:Missense DiseaseEntity:FactorIXDeficiency InheritancePattern:NoInheritanceAssertion ParentalTest:Unknown Zygosity:NoZygosityAssertion FIXtesting:Partial HGNC:3551 CaseInfo Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 24 Oct 2026
      c.580G>A

      Case#: 44

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C 23% (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_001313913.1:c.580G>A (p.Asp194Asn)

      ClinVar: NA

      CAID: CA414441211

      gnomAD: Not reported

      InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion ParentalTest:Unknown FVIIItesting:Partial DiseaseEntity:FactorVIIIDeficiency Mutation:Missense CAID:CA414441211 CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 24 Oct 2026
      c.2043G>A

      Case#: 16

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 31% (Mild Phenotype), No inhibitors present

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

      Gene: F8

      Variant: NM_000132.3:c.2043G>A (p.Met681Ile)

      ClinVar: NA

      CAID: CA414909257

      gnomAD: Not reported

      DiseaseEntity:FactorVIIIDeficiency InheritancePattern:NoInheritanceAssertion CAID:CA414909257 Mutation:Missense ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 23 Oct 2026
      c.1219T>C

      Case#: 40

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

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

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

      Gene: F9

      Variant: NM_000133.3:c.1219T>C (p.Cys407Arg)

      ClinVar: NA

      CAID: CA414446562

      gnomAD: Not reported

      CAID:CA414446562 DiseaseEntity:FactorIXDeficiency Mutation:Missense FIXtesting:Partial ParentalTest:Unknown Zygosity:NoZygosityAssertion InheritancePattern:NoInheritanceAssertion HGNC:3551 CaseInfo Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    6. ClingenBaseline 23 Oct 2026
      c1834C>T

      Case#: 15

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

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

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

      Gene: F8

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

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

      CAID: CA255129

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

      InheritancePattern:NoInheritanceAssertion Mutation:Missense DiseaseEntity:FactorVIIIDeficiency ClinVarID:10236 CAID:CA255129 Zygosity:NoZygosityAssertion ParentalTest:Unknown FVIIItesting:Partial CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    7. ClingenBaseline 23 Oct 2026
      c.6533G>A

      Case#: 32

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 28%, Mild Phenotype, No inhibitors present

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

      Gene: F8

      Variant: NM_000132.3(F8):c.6533G>A (p.Arg2178His)

      ClinVar: 10319 https://www.ncbi.nlm.nih.gov/clinvar/variation/10319/

      CAID: CA255212

      gnomAD: MAF for Arg2178His in the African population 0.00007598<br>https://gnomad.broadinstitute.org/variant/X-154091399-C-T?dataset=gnomad_r2_1

      ClinVarID:10319 CAID:CA255212 InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion Mutation:Missense ParentalTest:Unknown FVIIItesting:Partial DiseaseEntity:FactorVIIIDeficiency CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    8. ClingenBaseline 23 Oct 2026
      c.518C>T

      Case#: 43

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

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

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

      Gene: F9

      Variant: NM_000133.3:c.518C>T (p.Ala173Val)

      ClinVar: NA

      CAID: CA414439510

      gnomAD: Not reported

      CAID:CA414439510 InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorIXDeficiency Mutation:Missense FIXtesting:Partial Zygosity:NoZygosityAssertion ParentalTest:Unknown CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    9. ClingenBaseline 23 Oct 2026
      c.6622C>G

      Case#: 33

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 21/29/33/15/20/26%, Mild Phenotype, No inhibitors present

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

      Gene: F8

      Variant: NM_000132.3(F8):c.6622C>G (p.Gln2208Glu)

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

      CAID: CA414905992

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

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

      Case#: 14

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 27% (Mild Phenotype), No inhibitors present

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

      Gene: F8

      Variant: NM_000132.3(F8):c.1649G>A (p.Arg550His)

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

      CAID: CA255115

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

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

      Case#: 2

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 32% (Mild Phenotype), No inhibitors present

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

      Gene: F8

      Variant: NM_000132.3(F8):c.280A>G (p.Thr94Ala)

      ClinVar: NA

      CAID: CA10568603

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

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

      Case#: 38

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 29%, Mild Phenotype, No inhibitors present

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

      Gene: F8

      Variant: NM_000132.3:c.7031G>C (p.Gly2344Ala)

      ClinVar: NA

      CAID: CA414896685

      gnomAD: Not reported

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

      Case#: 29

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 10/8/14%, Mild Phenotype, No inhibitors present

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

      Gene: F8

      Variant: NM_000132.3:c.6118T>G (p.Cys2040Gly)

      ClinVar: NA

      CAID: CA414904332

      gnomAD: Not reported

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

      Case#: 42

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C 4% (Moderate Phenotype)

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

      Gene: F9

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

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

      CAID: CA414438897

      gnomAD: Not reported

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

      Case#: 6

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

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

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

      Gene: F8

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

      ClinVar: NA

      CAID: CA414919155

      gnomAD: Not reported

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

      Case1: 9

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

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

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

      Gene: F8

      Variant: NM_000132.3:c.1288T>C (p.Tyr430His)

      ClinVar: NA

      CAID: CA337336221

      gnomAD: Not reported

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

      Case#: 28

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 5/3% (Moderate Phenotype), No inhibitors present

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

      Gene: F8

      Variant: NM_000132.3(F8):c.6113A>G (p.Asn2038Ser)

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

      CAID: CA255198

      gnomAD: Not reported

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

      Case#: 30

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

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

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

      Gene: F8

      Variant: F8, IVS22 INV

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

      gnomAD: Not reported

      ClinVarID:10150 InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency FVIIItesting:Partial ParentalTest:Unknown Zygosity:NoZygosityAssertion CaseInfo HGNC:3546 Mutation:Intronic Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    www-thieme-connect-com.libproxy.lib.unc.edu/products/ejournals/pdf/10.1160/TH16-05-0375.pdf
  9. illiad.lib.unc.edu illiad.lib.unc.edu
    Secretion of wild&#x02010;type factor IX upon readthrough over <i>F9</i> pre&#x02010;peptide nonsense mutations causing hemophilia B
    1
    1. ClingenBaseline 24 Oct 2026
      p.Cys28Trp

      Case#: N/A

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: None

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0001929

      CasePresentingHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: None

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: Absent

      CAID: CA414434487

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414434487 ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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  10. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular Analysis of Factor VIII and Factor IX Genes in Hemophilia Patients: Identification of Novel Mutations and Molecular Dynamics Studies
    6
    1. ClingenBaseline 24 Oct 2026
      UQU-HA38

      Case#: UQU-HA36, Male, 1-months-old, Saudi Arabia

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0001892 (Abnormal bleeding)

      CaseHPOFreeText: Mild, FVIII: 1 to <5% (moderate HA) based on text

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

      Gene: F8

      Variant: NM_000132.3:c.99G>T (p.Trp33Cys)

      ClinVar: NA

      CAID: CA414920529

      gnomAD: Not reported

      CAID:CA414920529 Mutation:Missense DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown InheritancePattern:NoInheritanceAssertion FVIIItesting:Partial CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 23 Oct 2026
      UQU-HB1

      Case#: UQU-HB1, Male, 2-months-old, Saudi Arabia

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Severe, PTT 74.5

      CasePreviousTesting: Screened for all factor IX exons by capillary sequencing

      Gene: F9

      Variant: NM_000133.3(F9):c.1136G>A (p.Arg379Gln)

      ClinVar: 10613 https://www.ncbi.nlm.nih.gov/clinvar/variation/10613/

      CAID: CA255394

      gnomAD: Not reported

      ClinVarID:10613 CAID:CA255394 Mutation:Missense Zygosity:NoZygosityAssertion DiseaseEntity:FactorIXDeficiency InheritancePattern:NoInheritanceAssertion ParentalTest:Unknown CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 23 Oct 2026
      UQU-HB8

      Case#: UQU-HB8, Male, 1-months-old, Saudi Arabia

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Severe, Disabled both knees , PTT 105.1

      CasePreviousTesting: Screened for all factor IX exons by capillary sequencing

      Gene: F9

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

      ClinVar: NA

      CAID: CA414441211

      gnomAD: Not reported

      Mutation:Missense InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown CAID:CA414441211 CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 23 Oct 2026
      UQU-HA35

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

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: PTT 118.8, Disabled both knees, Severe

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

      Gene: F8

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

      ClinVar: NA

      CAID: CA414910775

      gnomAD: Not reported

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

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

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

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

      CasePreviousTesting: Screened for all factor IX exons by capillary sequencing

      Gene: F9

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

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

      CAID: CA255344

      gnomAD: Not reported

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

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

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

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

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

      Gene: F8

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

      ClinVar: NA

      CAID: CA414919795

      gnomAD: Not reported

      CAID:CA414919795 Mutation:Missense InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency ParentalTest:Unknown Zygosity:NoZygosityAssertion CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5330775/
  11. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Consequences of factor IX mutations in 26 families with haemophilia B
    1
    1. ClingenBaseline 24 Oct 2026
      Mutations

      Case#: Weinmann_Family 9248

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: 16 of the families were from the Pacific Northwest, 4 from Colorado, and 6 were referred from elsewhere in the United States

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity (FIX:C: <1%, FIX:Ag: 37)

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

      LegacyVariant: c.6364C>T

      ClinVar: 811505

      CAID: CA414435537

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435537 FIXTesting:Full ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1046/j.1365-2141.1998.00512.x
  12. haematologica.org haematologica.org
    Molecular genotyping of the Italian cohort of patients with hemophilia B
    1
    1. ClingenBaseline 24 Oct 2026
      identify the causative mutation

      Case#: Belvini_Proband_15 (male, Italian)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435539 FIXTesting:None ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    haematologica.org/article/view/3523
  13. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites
    13
    1. ClingenBaseline 24 Oct 2026
      c.5286T>A

      Case#: 25

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Sporadic

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Moderate

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

      Gene: F8

      Variant: NM_000132.3:c.5286T>A (p.Phe1743Leu)

      ClinVar: NA

      CAID: CA414910973

      gnomAD: Not reported

      CAID:CA414910973 Zygosity:NoZygosityAssertion ParentalTest:Unknown DiseaseEntity:FactorVIIIDeficiency HGNC:3546 CaseInfo Mutation:Missense Gene:F8 InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 24 Oct 2026
      c.2766delC

      Case#: 3

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Positive

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Moderate

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

      Gene: F8

      Variant: NM_000132.3:c.2766del (p.Leu923Ter)

      ClinVar: NA

      CAID: CA923726358

      gnomAD: Not reported

      DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown CAID:CA923726358 InheritancePattern:Xlinked CaseInfo HGNC:3546 Gene:F8 Mutation:Frameshift inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 23 Oct 2026
      c.1538G>T

      Case#: 21

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Positive

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Moderate

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

      Gene: F8

      Variant: NM_000132.3:c.1538G>T (p.Gly494Val)

      ClinVar: NA

      CAID: CA414912397

      gnomAD: Not reported

      CAID:CA414912397 DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown InheritancePattern:Xlinked CaseInfo HGNC:3546 Mutation:Missense Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 23 Oct 2026
      IVS15 g-1c

      Case#: 11

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Sporadic

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Severe

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

      Gene: F8

      Variant: NM_000132.3:c.5374-1G>C

      ClinVar: NA

      CAID: CA414909191

      gnomAD: NA

      DiseaseEntity:FactorVIIIDeficiency ParentalTest:Unknown Zygosity:NoZygosityAssertion CAID:CA414909191 CaseInfo HGNC:3546 Gene:F8 Mutation:Intronic InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 23 Oct 2026
      C.6515C>T

      Case#: 29

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Positive

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Severe

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

      Gene: F8

      Variant: NM_000132.3:c.6515C>T (p.Pro2153Leu)

      ClinVar: NA

      CAID: CA414907354

      gnomAD: Not reported

      CAID:CA414907354 Zygosity:NoZygosityAssertion ParentalTest:Unknown DiseaseEntity:FactorVIIIDeficiency InheritancePattern:Xlinked CaseInfo HGNC:3546 Mutation:Missense Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    6. ClingenBaseline 23 Oct 2026
      c.556G>A

      Case#: 13

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Positive

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Severe

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

      Gene: F8

      Variant: NM_000132.3:c.556G>A

      ClinVar: NA

      CAID: CA414919461

      gnomAD: Not reported

      CAID:CA414919461 DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown InheritancePattern:Xlinked CaseInfo HGNC:3546 Mutation:Missense Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    7. ClingenBaseline 23 Oct 2026
      C.7006A>T

      Case#: 31

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Positive

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Moderate

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

      Gene: F8

      Variant: NM_000132.3:c.7006A>T (p.Ile2317Phe)

      ClinVar: NA

      CAID: CA414896884

      gnomAD: Not reported

      CAID:CA414896884 Zygosity:NoZygosityAssertion DiseaseEntity:FactorVIIIDeficiency ParentalTest:Unknown InheritancePattern:Xlinked CaseInfo HGNC:3546 Mutation:Missense Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    8. ClingenBaseline 23 Oct 2026
      c.1682delA

      Case#: 2

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Sporadic

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Severe

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

      Gene: F8

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

      ClinVar: NA

      CAID: CA1139532041

      gnomAD: Not reported

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

      Case#: 24

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Positive

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Mild

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

      Gene: F8

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

      ClinVar: NA

      CAID: CA414913679

      gnomAD: Not reported

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

      Case#: 12

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Positive

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Mild

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

      Gene: F8

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

      ClinVar: NA

      CAID: CA10568618

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

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

      Case#: 20

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Sporadic

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Severe

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

      Gene: F8

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

      ClinVar: NA

      CAID: CA414912766

      gnomAD: Not reported

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

      Case#: 10

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Sporadic

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Severe, Inhibitors present

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

      Gene: F8

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

      ClinVar: NA

      CAID: CA414904364

      gnomAD: NA

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

      Case#: 19

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Mild

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

      Gene: F8

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

      ClinVar: NA

      CAID: CA414914381

      gnomAD: Not reported

      CAID:CA414914381 InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown CaseInfo HGNC:3546 Mutation:Missense Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC2275016/
  14. 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
    15
    1. ClingenBaseline 24 Oct 2026
      17.

      Case#: 17

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C = 3%

      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.1025C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255381

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA255381 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 23 Oct 2026
      40.

      Case#: 40

      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.892C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255370

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Nonsense Inhibitor:Absent CAID:CA255370 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 23 Oct 2026
      4.

      Case#: 4

      DiseaseAssertion: Hemophilia B, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: 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.160G>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414435755

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414435755 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 23 Oct 2026
      24.

      Case#: 24

      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.1193G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414446384

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414446384 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 23 Oct 2026
      29.

      Case#: 29

      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.1279G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414447040

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414447040 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    6. ClingenBaseline 23 Oct 2026
      11.

      Case#: 11

      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.677G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA121128

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA121128 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    7. ClingenBaseline 23 Oct 2026
      39.

      Case#: 39

      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.892C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255370

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Nonsense Inhibitor:Absent CAID:CA255370 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    8. ClingenBaseline 23 Oct 2026
      32.

      Case#: 32

      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.1306G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414447233

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414447233 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    9. ClingenBaseline 23 Oct 2026
      23.

      Case#: 23

      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.1193G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414446384

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414446384 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    10. ClingenBaseline 23 Oct 2026
      3.

      Case#: 3

      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.128G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414435539

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414435539 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    11. ClingenBaseline 23 Oct 2026
      16.

      Case#: 16

      DiseaseAssertion: Hemophilia B, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C = 12%

      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:MildHemophiliaB 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
    12. ClingenBaseline 23 Oct 2026
      10.

      Case#: 10

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C = 2.5%

      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.571C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255340

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA255340 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    13. ClingenBaseline 22 Oct 2026
      38.

      Case#: 38

      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.719G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414441403

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Nonsense Inhibitor:Present CAID:CA414441403 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    14. ClingenBaseline 22 Oct 2026
      31.

      Case#: 31

      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.1291T>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414447125

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414447125 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    15. ClingenBaseline 22 Oct 2026
      22

      Case#: 22

      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.1145G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414446163

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414446163 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/
  15. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Comparison of an automated chemiluminescent assay to a manual ELISA assay for determination of von Willebrand Factor collagen binding activity on VWD plasma patients previously diagnosed through molecular analysis of VWF
    12
    1. ClingenBaseline 24 Oct 2026
      1

      Case: 2A-5

      DiseaseAssertion: VWD2A

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: AcuStar RCo/Ag = 0.37; AcuStar CB/Ag = 0.12; ELISA CB/Ag = 0.28

      CaseHPOFreeText:

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: not described

      PreviouslyPublished: PMIDs: 1537829, 22431572

      Gene: VWF

      Variant: c.4517C>T (p.Ser1506Leu)

      HGVS: NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu)

      ClinVarID: 100369; https://www.ncbi.nlm.nih.gov/clinvar/variation/100369/?new_evidence=false

      CAID:

      gnomAD: absent

      Individual CaseInfo PreviouslyPublished Gene:VWF InheritancePattern:NoInheritanceAssertion DiseaseEntity:VWD2A Mutation:Missense Zygosity:NoZygosityAssertion ClinVarID:100369 inferred_gene_hgnc:2928 inferred_gene_source:ClinVar ClinGen VWF
    2. ClingenBaseline 24 Oct 2026
      0.33

      Case: 2A-3

      DiseaseAssertion: VWD2A

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: AcuStar RCo/Ag = 0.33; AcuStar CB/Ag = 0.08; ELISA CB/Ag = 0.25

      CaseHPOFreeText:

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: not described

      PreviouslyPublished: PMID: 1537829

      Gene: VWF

      Variant: c.4789C>T (p.Arg1597Trp)

      HGVS: NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp)

      ClinVarID: 285; https://www.ncbi.nlm.nih.gov/clinvar/variation/285/?new_evidence=false

      CAID:

      gnomAD: absent

      Individual CaseInfo PreviouslyPublished Gene:VWF InheritancePattern:NoInheritanceAssertion DiseaseEntity:VWD2A Mutation:Missense Zygosity:NoZygosityAssertion ClinVarID:285 inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    3. ClingenBaseline 24 Oct 2026
      0.73

      Case: 2B-9

      DiseaseAssertion: VWD2B

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: AcuStar RCo/Ag = 0.73; AcuStar CB/Ag = 1.09; ELISA CB/Ag = 1.18

      CaseHPOFreeText:

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: not described

      PreviouslyPublished: 11325649

      Gene: VWF

      Variant: c.4135C>T (p.Arg1379Cys)

      HGVS: NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys)

      ClinVarID: 100333; https://www.ncbi.nlm.nih.gov/clinvar/variation/100333/?new_evidence=false

      CAID:

      gnomAD: MAF (European, non-Finnish) = 0.00003891; 0 homozygotes; https://gnomad.broadinstitute.org/variant/12-6128449-G-A

      Individual CaseInfo PreviouslyPublished Gene:VWF DiseaseEntity:VWD2B InheritancePattern:NoInheritanceAssertion Mutation:Missense Zygosity:NoZygosityAssertion ClinVarID:100333 inferred_gene_hgnc:2928 inferred_gene_source:ClinVar ClinGen VWF
    4. ClingenBaseline 24 Oct 2026
      0.12

      Case: 2B-3

      DiseaseAssertion: VWD2B

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: AcuStar RCo/Ag = 0.12; AcuStar CB/Ag = 0.09; ELISA CB/Ag = 0.56

      CaseHPOFreeText:

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: not described

      PreviouslyPublished: 1373334

      Gene: VWF

      Variant: c.4010C>T (p.Pro1337Leu)

      HGVS: NM_000552.5(VWF):c.4010C>T (p.Pro1337Leu)

      ClinVarID: 100314; https://www.ncbi.nlm.nih.gov/clinvar/variation/100314/?new_evidence=false

      CAID:

      gnomAD: MAF = 0.00005440 in East Asian population; https://gnomad.broadinstitute.org/variant/12-6128574-G-A

      Individual CaseInfo PreviouslyPublished Gene:VWF DiseaseEntity:VWD2B InheritancePattern:NoInheritanceAssertion Mutation:Missense Zygosity:NoZygosityAssertion ClinVarID:100314 inferred_gene_hgnc:2928 inferred_gene_source:ClinVar ClinGen VWF
    5. ClingenBaseline 24 Oct 2026
      0.44

      Case: 2M-4

      DiseaseAssertion: VWD2M

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: AcuStar RCo/Ag = 0.44; AcuStar CB/Ag = 0.51; ELISA CB/Ag = 0.73

      CaseHPOFreeText:

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: not described

      PreviouslyPublished: 7620154

      Gene: VWF

      Variant: c.4121G>A (p.Arg1374His)

      HGVS: NM_000552.5(VWF):c.4121G>A (p.Arg1374His)

      ClinVarID: 100330; https://www.ncbi.nlm.nih.gov/clinvar/variation/100330/?new_evidence=false

      CAID:

      gnomAD: absent

      Individual CaseInfo PreviouslyPublished Gene:VWF DiseaseEntity:VWD2M InheritancePattern:NoInheritanceAssertion Mutation:Missense Zygosity:NoZygosityAssertion ClinVarID:100330 inferred_gene_hgnc:2928 inferred_gene_source:ClinVar ClinGen VWF
    6. ClingenBaseline 24 Oct 2026
      1

      Case: 2A-6

      DiseaseAssertion: VWD2A

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: AcuStar RCo/Ag = 0.36; AcuStar CB/Ag = 0.15; ELISA CB/Ag = 0.42

      CaseHPOFreeText:

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: not described

      PreviouslyPublished: PMIDs: 1537829, 16322474

      Gene: VWF

      Variant: c.4513G>C (p.Gly1505Arg)

      HGVS: NM_000552.5(VWF):c.4513G>C (p.Gly1505Arg)

      ClinVarID: 100367; https://www.ncbi.nlm.nih.gov/clinvar/variation/100367/?oq=p.Gly1505Arg[varname]+&m=NM_000552.5(VWF):c.4513G%3EC%20(p.Gly1505Arg)

      CAID:

      gnomAD: absent

      Individual CaseInfo PreviouslyPublished Gene:VWF InheritancePattern:NoInheritanceAssertion DiseaseEntity:VWD2A Mutation:Missense Zygosity:NoZygosityAssertion ClinVarID:100367 inferred_gene_hgnc:2928 inferred_gene_source:ClinVar ClinGen VWF
    7. ClingenBaseline 24 Oct 2026
      0.41

      Case: 2B-1

      DiseaseAssertion: VWD2B

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: AcuStar RCo/Ag = 0.41; AcuStar CB/Ag = 0.49; ELISA CB/Ag = 0.40

      CaseHPOFreeText:

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: not described

      PreviouslyPublished: 1373334

      Gene: VWF

      Variant: c.4010C>T (p.Pro1337Leu)

      HGVS: NM_000552.5(VWF):c.4010C>T (p.Pro1337Leu)

      ClinVarID: 100314; https://www.ncbi.nlm.nih.gov/clinvar/variation/100314/?new_evidence=false

      CAID:

      gnomAD: MAF = 0.00005440 in East Asian population; https://gnomad.broadinstitute.org/variant/12-6128574-G-A

      Individual CaseInfo PreviouslyPublished Gene:VWF InheritancePattern:NoInheritanceAssertion Mutation:Missense Zygosity:NoZygosityAssertion ClinVarID:100314 DiseaseEntity:VWD2B inferred_gene_hgnc:2928 inferred_gene_source:ClinVar ClinGen VWF
    8. ClingenBaseline 23 Oct 2026
      1

      Case: 2M-7

      DiseaseAssertion: VWD2M

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: AcuStar RCo/Ag = 0.40; AcuStar CB/Ag = 0.55; ELISA CB/Ag = 0.87

      CaseHPOFreeText:

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: not described

      PreviouslyPublished: 7620154, 16247740

      Gene: VWF

      Variant: c.4120C>T (p.Arg1374Cys)

      HGVS: NM_000552.5(VWF):c.4120C>T (p.Arg1374Cys)

      ClinVarID: 100329; https://www.ncbi.nlm.nih.gov/clinvar/variation/100329/?new_evidence=false

      CAID:

      gnomAD: MAF = 0.000008824 in European (Non-Finnish) population; https://gnomad.broadinstitute.org/variant/12-6128464-G-A

      Individual CaseInfo PreviouslyPublished Gene:VWF InheritancePattern:NoInheritanceAssertion Mutation:Missense Zygosity:NoZygosityAssertion ClinVarID:100329 DiseaseEntity:VWD2B inferred_gene_hgnc:2928 inferred_gene_source:ClinVar ClinGen VWF
    9. ClingenBaseline 23 Oct 2026
      1

      Case: 2B-7

      DiseaseAssertion: VWD2B

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: AcuStar RCo/Ag = 0.43; AcuStar CB/Ag = 0.17; ELISA CB/Ag = 0.20

      CaseHPOFreeText:

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: not described

      PreviouslyPublished: 9858249

      Gene: VWF

      Variant: c.3922C>T (p.Arg1308Cys)

      HGVS: NM_000552.5(VWF):c.3922C>T (p.Arg1308Cys)

      ClinVarID: 289; https://www.ncbi.nlm.nih.gov/clinvar/variation/289/?new_evidence=false

      CAID:

      gnomAD: absent

      Individual CaseInfo PreviouslyPublished Gene:VWF DiseaseEntity:VWD2B InheritancePattern:NoInheritanceAssertion Mutation:Missense Zygosity:NoZygosityAssertion ClinVarID:289 inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    10. ClingenBaseline 23 Oct 2026
      0.36

      Case: 2M-6

      DiseaseAssertion: VWD2M

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: AcuStar RCo/Ag = 0.36; AcuStar CB/Ag = 0.54; ELISA CB/Ag = 0.66

      CaseHPOFreeText:

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: not described

      PreviouslyPublished: 7620154

      Gene: VWF

      Variant: c.4121G>A (p.Arg1374His)

      HGVS: NM_000552.5(VWF):c.4121G>A (p.Arg1374His)

      ClinVarID: 100330; https://www.ncbi.nlm.nih.gov/clinvar/variation/100330/?new_evidence=false

      CAID:

      gnomAD: absent

      Individual CaseInfo PreviouslyPublished Gene:VWF DiseaseEntity:VWD2M InheritancePattern:NoInheritanceAssertion Mutation:Missense Zygosity:NoZygosityAssertion ClinVarID:100330 inferred_gene_hgnc:2928 inferred_gene_source:ClinVar ClinGen VWF
    11. ClingenBaseline 23 Oct 2026
      0.50

      Case: 2M-3

      DiseaseAssertion: VWD2M

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: AcuStar RCo/Ag = 0.50; AcuStar CB/Ag = 0.63; ELISA CB/Ag = 0.94

      CaseHPOFreeText:

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: not described

      PreviouslyPublished: 7620154

      Gene: VWF

      Variant: c.4121G>A (p.Arg1374His)

      HGVS: NM_000552.5(VWF):c.4121G>A (p.Arg1374His)

      ClinVarID: 100330; https://www.ncbi.nlm.nih.gov/clinvar/variation/100330/?new_evidence=false

      CAID:

      gnomAD: absent

      Individual CaseInfo PreviouslyPublished Gene:VWF DiseaseEntity:VWD2M InheritancePattern:NoInheritanceAssertion Mutation:Missense Zygosity:NoZygosityAssertion ClinVarID:100330 inferred_gene_hgnc:2928 inferred_gene_source:ClinVar ClinGen VWF
    12. ClingenBaseline 23 Oct 2026
      0.37

      Case: 2M-5

      DiseaseAssertion: VWD2M

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: AcuStar RCo/Ag = 0.37; AcuStar CB/Ag = 0.41; ELISA CB/Ag = 0.62

      CaseHPOFreeText:

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: not described

      PreviouslyPublished: 7620154

      Gene: VWF

      Variant: c.4121G>A (p.Arg1374His)

      HGVS: NM_000552.5(VWF):c.4121G>A (p.Arg1374His)

      ClinVarID: 100330; https://www.ncbi.nlm.nih.gov/clinvar/variation/100330/?new_evidence=false

      CAID:

      gnomAD: absent

      Individual CaseInfo PreviouslyPublished Gene:VWF DiseaseEntity:VWD2M InheritancePattern:NoInheritanceAssertion Mutation:Missense Zygosity:NoZygosityAssertion ClinVarID:100330 inferred_gene_hgnc:2928 inferred_gene_source:ClinVar ClinGen VWF
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    URL

    onlinelibrary.wiley.com/doi/full/10.1111/ijlh.12743
  16. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Clinical utility of panel-based genetic sequencing for von Willebrand disease
    9
    1. ClingenBaseline 24 Oct 2026
      48 F Type 2 NOS VWD Type 2B VWD c.3842T>C p.Leu1281Pro LP

      Case 15: 48 year old female, study ID UZ097 in supplemental table

      DiseaseAssertion: type 2 NOS VWD presequencing, type 2B VWD postsequencing

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs:

      CaseHPOFreeRext: vWF:Ag (%) = 34.3; vWF:GPIbR (%) = 17.2; Act/Ag ratio = 0.50; FVIII:C (%) = 44.5; Platelets (x10^9/L) = 344

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: The Thrombosis-Hemostasis gene panel test used whole exome sequencing and included 99 diagnostic-grade genes (table 1 in PMID:36696193)

      GenotypingMethod: WES using the coagulation subpanel of the UZ Leuven Thrombosis-Haemostasis gene panel test. WES was performed on the sequencing platform NovaSeq 6000 (Illumina), and Alissa Interpret software v5.2-5.4 (Agilent) was used for variant interpretation. Assessment of copy number variation was validated within the bioinformatics pipeline. The American College of Medical Genetics and Genomics and the Association of Molecular Pathology guidelines were used to classify variants as pathogenic (P), likely pathogenic (LP), a variant of uncertain significance (VUS), or (likely) benign (LB, B) variants

      PreviouslyPublished:

      Gene: VWF

      Variant: c.3842T>C p.Leu1281Pro

      HGVS:

      ClinVarID: 627206

      CAID:

      gnomAD: absent

      InheritancePattern:NoInheritanceAssertion DiseaseEntity:VWD2B Mutation:Missense Zygosity:NoZygosityAssertion ClinVarID:627206 SupplementalData inferred_gene_hgnc:9666 inferred_gene_source:ClinVar ClinGen VWF
    2. ClingenBaseline 24 Oct 2026
      39 F Type 2 NOS VWD Type 2A VWD c.3569G>A p.Cys1190Tyr LP

      Case 12: 39 year old female, study ID UZ108

      DiseaseAssertion: type 2 NOS VWD presequencing, type 2A VWD postsequencing

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs:

      CaseHPOFreeRext: vWF:Ag (%) = 74.6; vWF:GPIbR (%) = 22.3; Act/Ag ratio = 0.30; FVIII:C (%) = 64; Platelets (x10^9/L) = 325

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: The Thrombosis-Hemostasis gene panel test used whole exome sequencing and included 99 diagnostic-grade genes (table 1 in PMID:36696193)

      GenotypingMethod:WES using the coagulation subpanel of the UZ Leuven Thrombosis-Haemostasis gene panel test. WES was performed on the sequencing platform NovaSeq 6000 (Illumina), and Alissa Interpret software v5.2-5.4 (Agilent) was used for variant interpretation. Assessment of copy number variation was validated within the bioinformatics pipeline. The American College of Medical Genetics and Genomics and the Association of Molecular Pathology guidelines were used to classify variants as pathogenic (P), likely pathogenic (LP), a variant of uncertain significance (VUS), or (likely) benign (LB, B) variants

      PreviouslyPublished:

      Gene: VWF

      Variant: c.3569G>A p.Cys1190Tyr

      HGVS:

      ClinVarID: 626960

      CAID:

      gnomAD: 6.195e-7 (1 in 1614212) no homozygotes https://gnomad.broadinstitute.org/variant/12-6022005-C-T?dataset=gnomad_r4

      InheritancePattern:NoInheritanceAssertion DiseaseEntity:VWD2A Mutation:Missense Zygosity:NoZygosityAssertion ClinVarID:626960 SupplementalData inferred_gene_hgnc:8031 inferred_gene_source:ClinVar ClinGen VWF
    3. ClingenBaseline 24 Oct 2026

      Case UZ080: 0 year old female (row 81 in supplementary table)

      DiseaseAssertion: type 2A/M VWD

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: HP:0032442

      CaseHPOFreeRext: vWF:Ag (%) = 17.9; vWF:GPIbR (%) = 5.5; Act/Ag ratio = 0.31; FVIII:C (%) = 19.7; Platelets (x10^9/L) = 324

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: The Thrombosis-Hemostasis gene panel test used whole exome sequencing and included 99 diagnostic-grade genes (table 1 in PMID:36696193)

      GenotypingMethod: WES using the coagulation subpanel of the UZ Leuven Thrombosis-Haemostasis gene panel test. WES was performed on the sequencing platform NovaSeq 6000 (Illumina), and Alissa Interpret software v5.2-5.4 (Agilent) was used for variant interpretation. Assessment of copy number variation was validated within the bioinformatics pipeline. The American College of Medical Genetics and Genomics and the Association of Molecular Pathology guidelines were used to classify variants as pathogenic (P), likely pathogenic (LP), a variant of uncertain significance (VUS), or (likely) benign (LB, B) variants

      PreviouslyPublished:

      Gene: VWF

      Variant: c.4121G>A p.Arg1374His

      HGVS:

      ClinVarID: 100330

      CAID:

      gnomAD: 0.000001239 (2 in 1613878) no homozygotes https://gnomad.broadinstitute.org/variant/12-6019297-C-T?dataset=gnomad_r4

      ClinVarID:100330 InheritancePattern:NoInheritanceAssertion DiseaseEntity:VWD2A DiseaseEntity:VWD2M Mutation:Missense SupplementalData Zygosity:NoZygosityAssertion inferred_gene_hgnc:2928 inferred_gene_source:ClinVar ClinGen VWF
    4. ClingenBaseline 24 Oct 2026
      1 F Type 3 VWD Type 3 VWD c.421G>Ac.7437G>A p.Asp141Asnp.Ser2479= P

      Case 16: 1 year old female, study ID UZ052 in supplemental table

      DiseaseAssertion: type 3 VWD

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: HP:0032442

      CaseHPOFreeRext: vWF:Ag (%) = 1.5; vWF:GPIbR (%) = 0.6; Act/Ag ratio = 0.40; FVIII:C (%) = 12.2; Platelets (x10^9/L) = 369

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: The Thrombosis-Hemostasis gene panel test used whole exome sequencing and included 99 diagnostic-grade genes (table 1 in PMID:36696193)

      GenotypingMethod: WES using the coagulation subpanel of the UZ Leuven Thrombosis-Haemostasis gene panel test. WES was performed on the sequencing platform NovaSeq 6000 (Illumina), and Alissa Interpret software v5.2-5.4 (Agilent) was used for variant interpretation. Assessment of copy number variation was validated within the bioinformatics pipeline. The American College of Medical Genetics and Genomics and the Association of Molecular Pathology guidelines were used to classify variants as pathogenic (P), likely pathogenic (LP), a variant of uncertain significance (VUS), or (likely) benign (LB, B) variants

      PreviouslyPublished:

      Gene: VWF

      Variant: c.421G>A p.Asp141Asn

      HGVS:

      ClinVarID: 100338

      CAID:

      gnomAD: 6.195e-7 (1 in 1614092) no homozygotes https://gnomad.broadinstitute.org/variant/12-6110483-A-G?dataset=gnomad_r4

      MultipleGeneVariants:

      VWF variant

      Variant: c.7940C>T p.Thr2647Met p.Thr2647Met

      ClinVarID: 100487

      gnomAD: 0.004007 (6468 in 1614124) 21 homozygotes https://gnomad.broadinstitute.org/variant/12-5953542-G-A?dataset=gnomad_r4

      MultipleGeneVariants InheritancePattern:NoInheritanceAssertion DiseaseEntity:VWD3 Mutation:Missense Zygosity:NoZygosityAssertion ClinVarID:100338 SupplementalData inferred_gene_hgnc:2928 inferred_gene_source:ClinVar ClinGen VWF
    5. ClingenBaseline 23 Oct 2026

      Case UZ089: 17 year old female (row 90 in supplementary table)

      DiseaseAssertion: type 1 VWD

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: HP:0032370

      CaseHPOFreeRext: vWF:Ag (%) = 17.7; vWF:GPIbR (%) = 14.2; Act/Ag ratio = 0.80; FVIII:C (%) = 49.8; Platelets (x10^9/L) = 242

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: The Thrombosis-Hemostasis gene panel test used whole exome sequencing and included 99 diagnostic-grade genes (table 1 in PMID:36696193)

      GenotypingMethod: WES using the coagulation subpanel of the UZ Leuven Thrombosis-Haemostasis gene panel test. WES was performed on the sequencing platform NovaSeq 6000 (Illumina), and Alissa Interpret software v5.2-5.4 (Agilent) was used for variant interpretation. Assessment of copy number variation was validated within the bioinformatics pipeline. The American College of Medical Genetics and Genomics and the Association of Molecular Pathology guidelines were used to classify variants as pathogenic (P), likely pathogenic (LP), a variant of uncertain significance (VUS), or (likely) benign (LB, B) variants

      PreviouslyPublished:

      Gene: VWF

      Variant: c.3359G>C p.Trp1120Ser

      HGVS:

      ClinVarID: 100256

      CAID:

      gnomAD: 0.000001239 (2 in 1613892) no homozygotes https://gnomad.broadinstitute.org/variant/12-6023651-C-G?dataset=gnomad_r4

      ClinVarID:100256 InheritancePattern:NoInheritanceAssertion DiseaseEntity:VWD1 Mutation:Missense SupplementalData Zygosity:NoZygosityAssertion inferred_gene_hgnc:3097 inferred_gene_source:ClinVar ClinGen VWF
    6. ClingenBaseline 23 Oct 2026

      Case UZ009: 42 year old female (row 10 supplemental table)

      DiseaseAssertion: type 1 VWD

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs:

      CaseHPOFreeRext: vWF:Ag (%) = 26.2; vWF:GPIbR (%) = 20.8; Act/Ag ratio = 0.79; FVIII:C (%) = 29.7; Platelets (x10^9/L) = 337

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: The Thrombosis-Hemostasis gene panel test used whole exome sequencing and included 99 diagnostic-grade genes (table 1 in PMID:36696193)

      GenotypingMethod: WES using the coagulation subpanel of the UZ Leuven Thrombosis-Haemostasis gene panel test. WES was performed on the sequencing platform NovaSeq 6000 (Illumina), and Alissa Interpret software v5.2-5.4 (Agilent) was used for variant interpretation. Assessment of copy number variation was validated within the bioinformatics pipeline. The American College of Medical Genetics and Genomics and the Association of Molecular Pathology guidelines were used to classify variants as pathogenic (P), likely pathogenic (LP), a variant of uncertain significance (VUS), or (likely) benign (LB, B) variants

      PreviouslyPublished:

      Gene: VWF

      Variant: c.6859C>T p.Arg2287Trp

      HGVS:

      ClinVarID: 100450

      CAID:

      gnomAD: 0.0004764 (769 in 1614122) 3 homozygotes https://gnomad.broadinstitute.org/variant/12-5985605-G-A?dataset=gnomad_r4

      InheritancePattern:NoInheritanceAssertion DiseaseEntity:VWD1 Mutation:Missense Zygosity:NoZygosityAssertion ClinVarID:100450 SupplementalData inferred_gene_hgnc:2928 inferred_gene_source:ClinVar ClinGen VWF
    7. ClingenBaseline 23 Oct 2026
      0 F Type 1 VWD Type 2M VWD c.5087T>G p.Leu1696Arg LP

      Case 1: 0 y.o. female, study ID UZ083 in Supplemental table

      DiseaseAssertion: type 1 VWD presequencing; type 2M VWD postsequencing

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: HP:0032370

      CaseHPOFreeRext: vWF:Ag (%) = 17.7; vWF:GPIbR (%) = 14; Act/Ag ratio = 0.79; FVIII:C (%) = 44.5; Platelets (x10^9/L) = 323

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: The Thrombosis-Hemostasis gene panel test used whole exome sequencing and included 99 diagnostic-grade genes (table 1 in PMID:36696193)

      GenotypingMethod: WES using the coagulation subpanel of the UZ Leuven Thrombosis-Haemostasis gene panel test. WES was performed on the sequencing platform NovaSeq 6000 (Illumina), and Alissa Interpret software v5.2-5.4 (Agilent) was used for variant interpretation. Assessment of copy number variation was validated within the bioinformatics pipeline. The American College of Medical Genetics and Genomics and the Association of Molecular Pathology guidelines were used to classify variants as pathogenic (P), likely pathogenic (LP), a variant of uncertain significance (VUS), or (likely) benign (LB, B) variants

      PreviouslyPublished: If applicable.

      Gene: VWF

      Variant: c.5087T>G p.Leu1696Arg

      HGVS:

      ClinVarID: 1684480

      CAID:

      gnomAD: absent

      InheritancePattern:NoInheritanceAssertion DiseaseEntity:VWD2M Mutation:Missense Zygosity:NoZygosityAssertion ClinVarID:1684480 SupplementalData inferred_gene_hgnc:3585 inferred_gene_source:ClinVar ClinGen VWF
    8. ClingenBaseline 23 Oct 2026

      Case UZ041: 2 year old male

      DiseaseAssertion: type 2A VWD

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: HP:0032370

      CaseHPOFreeRext: vWF:Ag (%) = 9.9; vWF:GPIbR (%) = 5.7; Act/Ag ratio = 0.6; FVIII:C (%) = 19.9; Platelets (x10^9/L) = 352

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: The Thrombosis-Hemostasis gene panel test used whole exome sequencing and included 99 diagnostic-grade genes (table 1 in PMID:36696193)

      GenotypingMethod: WES using the coagulation subpanel of the UZ Leuven Thrombosis-Haemostasis gene panel test. WES was performed on the sequencing platform NovaSeq 6000 (Illumina), and Alissa Interpret software v5.2-5.4 (Agilent) was used for variant interpretation. Assessment of copy number variation was validated within the bioinformatics pipeline. The American College of Medical Genetics and Genomics and the Association of Molecular Pathology guidelines were used to classify variants as pathogenic (P), likely pathogenic (LP), a variant of uncertain significance (VUS), or (likely) benign (LB, B) variants

      PreviouslyPublished:

      Gene: VWF

      Variant: c.3380-2A>G p.?

      HGVS:

      ClinVarID: 1684020

      CAID:

      gnomAD: absent

      InheritancePattern:NoInheritanceAssertion DiseaseEntity:VWD2A Mutation:Intronic Zygosity:NoZygosityAssertion SupplementalData ClinVarID:1684020 inferred_gene_hgnc:8619 inferred_gene_source:ClinVar ClinGen VWF
    9. ClingenBaseline 23 Oct 2026

      Case UZ071: 2 year old female (row 72 in supplemental table)

      DiseaseAssertion: type 2A VWD

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: HP:0032440, HP:0040225

      CaseHPOFreeRext: vWF:Ag (%) = 16.1; vWF:GPIbR (%) = 3.4; Act/Ag ratio = 0.21; FVIII:C (%) = 17; Platelets (x10^9/L) = 537

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: The Thrombosis-Hemostasis gene panel test used whole exome sequencing and included 99 diagnostic-grade genes (table 1 in PMID:36696193)

      GenotypingMethod: WES using the coagulation subpanel of the UZ Leuven Thrombosis-Haemostasis gene panel test. WES was performed on the sequencing platform NovaSeq 6000 (Illumina), and Alissa Interpret software v5.2-5.4 (Agilent) was used for variant interpretation. Assessment of copy number variation was validated within the bioinformatics pipeline. The American College of Medical Genetics and Genomics and the Association of Molecular Pathology guidelines were used to classify variants as pathogenic (P), likely pathogenic (LP), a variant of uncertain significance (VUS), or (likely) benign (LB, B) variants

      PreviouslyPublished:

      Gene: VWF

      Variant: c.4517C>T p.Ser1506Leu

      HGVS:

      ClinVarID: 100369

      CAID:

      gnomAD: absent

      MultipleGeneVariants:

      Gene: FGG

      Variant: c.571G>A p.Gly191Arg

      ClinVarID: 16378

      gnomAD: 0.003866 (6239 in 1613896) 21 homozygotes https://gnomad.broadinstitute.org/variant/4-154609725-C-T?dataset=gnomad_r4

      MultipleGeneVariants ClinVarID:100369 InheritancePattern:NoInheritanceAssertion DiseaseEntity:VWD2A Mutation:Missense SupplementalData Zygosity:NoZygosityAssertion inferred_gene_hgnc:2928 inferred_gene_source:ClinVar ClinGen VWF
    Visit annotations in context

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    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC12002656/
  17. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients
    2
    1. ClingenBaseline 24 Oct 2026

      Case#: 01025, Age 54, Male, Blood type AB- (Table S3)

      Disease Assertion: VWD 1

      FamilyInfo: Not listed

      Parental Genotype: Not listed

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Bleeding score 5, VWF:Ag: 27, VWF:RCo: 36, FVIII:C: 45, VWF:CB: 25

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      Protein Expression: N/A

      CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations

      Gene: VWF

      Variant: Not determined

      ClinVar: N/A

      CAID: N/A

      gnomAD: N/A

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD1 SupplementalData InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    2. ClingenBaseline 23 Oct 2026

      Case#: 03015, Age 37, Female, Blood Type O+ (Table S3)

      Disease Assertion: VWD 1

      FamilyInfo: Patient is the only member of family #0399.

      Parental Genotype: Not listed

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Bleeding score 0, VWF:Ag: 17, VWF:RCo: 17.7, FVIII:C 15, VWF:CB 16

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      Protein Expression: N/A

      CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations

      Gene: VWF

      Variant: Not determined

      ClinVar: N/A

      CAID: N/A

      gnomAD: N/A

      Individual CaseInfo SupplementalData Gene:VWF DiseaseEntity:VWD1 InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    Visit annotations in context

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    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5709099/
  18. Local file Local file
    untitled
    8
    1. ClingenBaseline 24 Oct 2026
      GT62

      Case21: (GT62) Gender, age and ethnicity are not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs:

      CaseHPOFreeText: Inclusion criteria were patients with a history of mucocutaneous bleeding (Figure 1 shows a bar diagram of all the clinical manifestations in the patient cohort in this article)

      CaseNotHPOs: N/A

      ProteinExpression: Platelet receptor alphaIIbbeta3 protein was analyzed by flow cytometry followed by western blotting

      Platelet Aggregation: Inclusion criteria for probands was absent or reduced platelet aggregation with agonists such as ADP, adrenaline, arachidonic acid, and collagen (no mention of ristocetin here-- this article does not tell us the specific aggregation for each proband in the paper)

      CasePreviousTesting: For mutation analysis of ITGA2B and ITGB3 genes, DNA extraction from whole blood, PCR, heteroduplex PCR followed by CSGE and DNA sequencing were performed. All 30 exons of ITGA2B and 15 exons of ITGB3, as well as their promoters, were analyzed by CSGE following heteroduplex PCR.

      Gene: ITGA2B

      Variant: NM_000419.3:c.1559del

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA915940684

      gnomAD N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:SingleNucleotideDeletion Zygosity:NoZygosityAssertion CAiD:CA915940684 PreviousTesting:Full ProteinExpression:MinimalInformation PlateletAggregation:MinimalInformation inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    2. ClingenBaseline 24 Oct 2026
      GT24

      Case15: (GT24) Gender, age and ethnicity not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Inclusion criteria were patients with a history of mucocutaneous bleeding (Figure 1 shows a bar diagram of all the clinical manifestations in the patient cohort in this article)

      CaseNotHPOs: N/A

      ProteinExpression: Platelet receptor alphaIIbbeta3 protein was analyzed by flow cytometry followed by western blotting

      Platelet Aggregation: Inclusion criteria for probands was absent or reduced platelet aggregation with agonists such as ADP, adrenaline, arachidonic acid, and collagen (no mention of ristocetin here-- this article does not tell us the specific aggregation for each proband in the paper)

      CasePreviousTesting: For mutation analysis of ITGA2B and ITGB3 genes, DNA extraction from whole blood, PCR, heteroduplex PCR followed by CSGE and DNA sequencing were performed. All 30 exons of ITGA2B and 15 exons of ITGB3, as well as their promoters, were analyzed by CSGE following heteroduplex PCR.

      Gene: ITGB3

      Variant: NM_000212.2:c.953T>C (p.Leu318Ser)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA400025639

      gnomAD MAF in the European Finnish population is 0.00004620 https://gnomad.broadinstitute.org/variant/17-45367060-T-C

      CaseInfo Individual Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:NoZygosityAssertion CAiD:CA400025639 PreviousTesting:Full ProteinExpression:MinimalInformation PlateletAggregation:MinimalInformation inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    3. ClingenBaseline 23 Oct 2026
      GT38

      Case24: (GT38) Gender, age and ethnicity not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Inclusion criteria were patients with a history of mucocutaneous bleeding (Figure 1 shows a bar diagram of all the clinical manifestations in the patient cohort in this article)

      CaseNotHPOs: N/A

      ProteinExpression: Platelet receptor alphaIIbbeta3 protein was analyzed by flow cytometry followed by western blotting

      Platelet Aggregation: Inclusion criteria for probands was absent or reduced platelet aggregation with agonists such as ADP, adrenaline, arachidonic acid, and collagen (no mention of ristocetin here-- this article does not tell us the specific aggregation for each proband in the paper)

      CasePreviousTesting: For mutation analysis of ITGA2B and ITGB3 genes, DNA extraction from whole blood, PCR, heteroduplex PCR followed by CSGE and DNA sequencing were performed. All 30 exons of ITGA2B and 15 exons of ITGB3, as well as their promoters, were analyzed by CSGE following heteroduplex PCR.

      Gene: ITGA2B

      Variant: NM_000419.3:c.2338del

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA915940686

      gnomAD N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:AutosomalRecessive DiseaseEntity:GlanzmannThrombasthenia Mutation:SingleNucleotideDeletion Zygosity:NoZygosityAssertion CAiD:CA915940686 PreviousTesting:Full ProteinExpression:MinimalInformation PlateletAggregation:MinimalInformation inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    4. ClingenBaseline 23 Oct 2026
      34

      Case5: (GT34), Gender, age and ethnicity not reported

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Inclusion criteria were patients with a history of mucocutaneous bleeding (Figure 1 shows a bar diagram of all the clinical manifestations in the patient cohort in this article)

      CaseNotHPOs: N/A

      ProteinExpression: Platelet receptor alphaIIbbeta3 protein was analyzed by flow cytometry followed by western blotting

      Platelet Aggregation: Inclusion criteria for probands was absent or reduced platelet aggregation with agonists such as ADP, adrenaline, arachidonic acid, and collagen (no mention of ristocetin here-- this article does not tell us the specific aggregation for each proband in the paper)

      CasePreviousTesting: For mutation analysis of ITGA2B and ITGB3 genes, DNA extraction from whole blood, PCR, heteroduplex PCR followed by CSGE and DNA sequencing were performed. All 30 exons of ITGA2B and 15 exons of ITGB3, as well as their promoters, were analyzed by CSGE following heteroduplex PCR.

      Gene: ITGA2B

      Variant: NC_000017.11:g.44393555C>T (g.951G>A promoter variant)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA913189168

      gnomAD N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:PromoterVariant Zygosity:NoZygosityAssertion CAiD:CA913189168 PreviousTesting:Full ProteinExpression:MinimalInformation PlateletAggregation:MinimalInformation inferred_gene_hgnc:6138 inferred_gene_source:Gene_Name ClinGen ITGA2B/ITGB3
    5. ClingenBaseline 23 Oct 2026
      GT45

      Case10: (GT45) Gender, age and ethnicity not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Inclusion criteria were patients with a history of mucocutaneous bleeding (Figure 1 shows a bar diagram of all the clinical manifestations in the patient cohort in this article)

      CaseNotHPOs: N/A

      ProteinExpression: Platelet receptor alphaIIbbeta3 protein was analyzed by flow cytometry followed by western blotting

      Platelet Aggregation: Inclusion criteria for probands was absent or reduced platelet aggregation with agonists such as ADP, adrenaline, arachidonic acid, and collagen (no mention of ristocetin here-- this article does not tell us the specific aggregation for each proband in the paper)

      CasePreviousTesting: For mutation analysis of ITGA2B and ITGB3 genes, DNA extraction from whole blood, PCR, heteroduplex PCR followed by CSGE and DNA sequencing were performed. All 30 exons of ITGA2B and 15 exons of ITGB3, as well as their promoters, were analyzed by CSGE following heteroduplex PCR.

      Gene: ITGA2B

      Variant: NM_000419.3:c.1073G>A (p.Arg358His)

      LegacyVariant: N/A

      ClinVar: 2896

      CAiD: CA115839

      gnomAD N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:NoZygosityAssertion CAiD:CA115839 ClinVarID:2896 PreviousTesting:Full ProteinExpression:MinimalInformation PlateletAggregation:MinimalInformation inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    6. ClingenBaseline 23 Oct 2026
      41

      Case31: (GT41) Gender, age and ethnicity are not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Inclusion criteria were patients with a history of mucocutaneous bleeding (Figure 1 shows a bar diagram of all the clinical manifestations in the patient cohort in this article)

      CaseNotHPOs: N/A

      ProteinExpression: Platelet receptor alphaIIbbeta3 protein was analyzed by flow cytometry followed by western blotting

      Platelet Aggregation: Inclusion criteria for probands was absent or reduced platelet aggregation with agonists such as ADP, adrenaline, arachidonic acid, and collagen (no mention of ristocetin here-- this article does not tell us the specific aggregation for each proband in the paper)

      CasePreviousTesting: For mutation analysis of ITGA2B and ITGB3 genes, DNA extraction from whole blood, PCR, heteroduplex PCR followed by CSGE and DNA sequencing were performed. All 30 exons of ITGA2B and 15 exons of ITGB3, as well as their promoters, were analyzed by CSGE following heteroduplex PCR.

      Gene: ITGB3

      Variant: NM_000212.2:c.887_901del

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA626379036

      gnomAD MAF in the South Asian population is 0.00003266 https://gnomad.broadinstitute.org/variant/17-45364541-AATGACGGGCAGTGTC-A

      CaseInfo Individual Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Large Zygosity:NoZygosityAssertion CAiD:CA626379036 PreviousTesting:Full ProteinExpression:MinimalInformation PlateletAggregation:MinimalInformation inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    7. ClingenBaseline 23 Oct 2026
      26

      Case7: (GT26) Gender, age and ethnicity not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Inclusion criteria were patients with a history of mucocutaneous bleeding (Figure 1 shows a bar diagram of all the clinical manifestations in the patient cohort in this article)

      CaseNotHPOs: N/A

      ProteinExpression: Platelet receptor alphaIIbbeta3 protein was analyzed by flow cytometry followed by western blotting

      Platelet Aggregation: Inclusion criteria for probands was absent or reduced platelet aggregation with agonists such as ADP, adrenaline, arachidonic acid, and collagen (no mention of ristocetin here-- this article does not tell us the specific aggregation for each proband in the paper)

      CasePreviousTesting: For mutation analysis of ITGA2B and ITGB3 genes, DNA extraction from whole blood, PCR, heteroduplex PCR followed by CSGE and DNA sequencing were performed. All 30 exons of ITGA2B and 15 exons of ITGB3, as well as their promoters, were analyzed by CSGE following heteroduplex PCR.

      Gene: ITGA2B

      Variant: NM_000419.3:c.641T>C (p.Leu214Pro)

      LegacyVariant: N/A

      ClinVar: 2901

      CAiD: CA115848

      gnomAD N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:NoZygosityAssertion ClinVarID:2901 CAiD:CA115848 PreviousTesting:Full ProteinExpression:MinimalInformation PlateletAggregation:MinimalInformation inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    8. ClingenBaseline 23 Oct 2026
      GT39

      Case12: (GT39) Gender, age and ethnicity not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Inclusion criteria were patients with a history of mucocutaneous bleeding (Figure 1 shows a bar diagram of all the clinical manifestations in the patient cohort in this article)

      CaseNotHPOs: N/A

      ProteinExpression: Platelet receptor alphaIIbbeta3 protein was analyzed by flow cytometry followed by western blotting

      Platelet Aggregation: Inclusion criteria for probands was absent or reduced platelet aggregation with agonists such as ADP, adrenaline, arachidonic acid, and collagen (no mention of ristocetin here-- this article does not tell us the specific aggregation for each proband in the paper)

      CasePreviousTesting: For mutation analysis of ITGA2B and ITGB3 genes, DNA extraction from whole blood, PCR, heteroduplex PCR followed by CSGE and DNA sequencing were performed. All 30 exons of ITGA2B and 15 exons of ITGB3, as well as their promoters, were analyzed by CSGE following heteroduplex PCR.

      Gene: ITGB3

      Variant: NM_000212.2:c.92G>A (p.Cys31Tyr)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA400031593

      gnomAD N/A

      CaseInfo Individual Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:NoZygosityAssertion CAiD:CA400031593 PreviousTesting:Full ProteinExpression:MinimalInformation PlateletAggregation:MinimalInformation inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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    Annotators

  19. Local file Local file
    untitled
    6
    1. ClingenBaseline 24 Oct 2026
      GT 34

      Case27: GT34, Female, India, age of onset is 5 years old

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Patients were recruited as they presented consecutively from 1996 to 1998 for evaluation of a mucocutaneous bleeding disorder

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: All patients examined had defective ADP, epinephrine, and collagen induced aggregation and normal ristocetin induced aggregation

      CasePreviousTesting: Mutations were detected by the method of single strand conformation polymorphism (SSCP) analysis, followed by nucleotide sequencing and confirmation by restriction fragment length polymorphism (RFLP) assays. The sequences of the primers employed and the reaction conditions for PCR amplification of the exons, adjacent intronic regions, and 50 and 30 untranslated regions of the aIIb and b3 gene

      Gene: ITGB3

      Variant: NM_000212.2:c.1402G>T (p.Glu468Ter)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA400029121

      gnomAD: N/A

      CaseInfo Individual Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Nonsense Zygosity:NoZygosityAssertion CAiD:CA400029121 ProteinExpression:NotReported PlateletAggregation:Reported PreviousTesting:Full inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    2. ClingenBaseline 24 Oct 2026
      GT 64

      Case37: GT64, Female, India, age of onset is 16 years old

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Patients were recruited as they presented consecutively from 1996 to 1998 for evaluation of a mucocutaneous bleeding disorder

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: All patients examined had defective ADP, epinephrine, and collagen induced aggregation and normal ristocetin induced aggregation

      CasePreviousTesting: Mutations were detected by the method of single strand conformation polymorphism (SSCP) analysis, followed by nucleotide sequencing and confirmation by restriction fragment length polymorphism (RFLP) assays. The sequences of the primers employed and the reaction conditions for PCR amplification of the exons, adjacent intronic regions, and 50 and 30 untranslated regions of the aIIb and b3 gene

      Gene: ITGB3

      Variant: NM_000212.2:c.428T>G (p.Leu143Trp)

      LegacyVariant: N/A

      ClinVar: 13567

      CAiD: CA123252

      gnomAD: MAF in the Other population is 0.0001629 https://gnomad.broadinstitute.org/variant/17-45361875-T-G

      CaseInfo Individual Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:NoZygosityAssertion CAiD:CA123252 ClinVarID:13567 PreviousTesting:Full ProteinExpression:NotReported PlateletAggregation:Reported inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    3. ClingenBaseline 23 Oct 2026
      GT 38

      Case11: GT38, Male, India, age of onset is 8 years old

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Patients were recruited as they presented consecutively from 1996 to 1998 for evaluation of a mucocutaneous bleeding disorder

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: All patients examined had defective ADP, epinephrine, and collagen induced aggregation and normal ristocetin induced aggregation

      CasePreviousTesting: Mutations were detected by the method of single strand conformation polymorphism (SSCP) analysis, followed by nucleotide sequencing and confirmation by restriction fragment length polymorphism (RFLP) assays. The sequences of the primers employed and the reaction conditions for PCR amplification of the exons, adjacent intronic regions, and 50 and 30 untranslated regions of the aIIb and b3 gene

      Gene: ITGA2B

      Variant: NM_000419.3:c.2953C>T (p.Gln985Ter)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA399790170

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Nonsense Zygosity:NoZygosityAssertion CAiD:CA399790170 PreviousTesting:Full ProteinExpression:NotReported PlateletAggregation:Reported inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    4. ClingenBaseline 23 Oct 2026
      GT16

      Case20: GT16, Female, India, age of onset is 11 years old

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Patients were recruited as they presented consecutively from 1996 to 1998 for evaluation of a mucocutaneous bleeding disorder

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: All patients examined had defective ADP, epinephrine, and collagen induced aggregation and normal ristocetin induced aggregation

      CasePreviousTesting: Mutations were detected by the method of single strand conformation polymorphism (SSCP) analysis, followed by nucleotide sequencing and confirmation by restriction fragment length polymorphism (RFLP) assays. The sequences of the primers employed and the reaction conditions for PCR amplification of the exons, adjacent intronic regions, and 50 and 30 untranslated regions of the aIIb and b3 gene

      Gene: ITGB3

      Variant: NM_000212.2:c.428T>G (p.Leu143Trp)

      LegacyVariant: N/A

      ClinVar: 13567

      CAiD: CA123252

      gnomAD: MAF in the Other population is 0.0001629 https://gnomad.broadinstitute.org/variant/17-45361875-T-G

      CaseInfo Individual Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:NoZygosityAssertion PreviousTesting:Full ClinVarID:13567 CAiD:CA123252 ProteinExpression:NotReported PlateletAggregation:Reported inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    5. ClingenBaseline 23 Oct 2026
      GT 33

      Case26: GT33, Female, India, age of onset is 18 years old

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Patients were recruited as they presented consecutively from 1996 to 1998 for evaluation of a mucocutaneous bleeding disorder

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: All patients examined had defective ADP, epinephrine, and collagen induced aggregation and normal ristocetin induced aggregation

      CasePreviousTesting: Mutations were detected by the method of single strand conformation polymorphism (SSCP) analysis, followed by nucleotide sequencing and confirmation by restriction fragment length polymorphism (RFLP) assays. The sequences of the primers employed and the reaction conditions for PCR amplification of the exons, adjacent intronic regions, and 50 and 30 untranslated regions of the aIIb and b3 gene

      Gene: ITGB3

      Variant: NM_000212.2:c.428T>G (p.Leu143Trp)

      LegacyVariant: N/A

      ClinVar: 13567

      CAiD: CA123252

      gnomAD: MAF in the Other population is 0.0001629 https://gnomad.broadinstitute.org/variant/17-45361875-T-G)

      CaseInfo Individual Gene:ITGB3 DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:NoZygosityAssertion PreviousTesting:Full ClinVarID:13567 CAiD:CA123252 ProteinExpression:NotReported PlateletAggregation:Reported InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    6. ClingenBaseline 23 Oct 2026
      GT 25

      Case24: GT25, Female, India, age of onset is 5 years old

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Patients were recruited as they presented consecutively from 1996 to 1998 for evaluation of a mucocutaneous bleeding disorder

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: All patients examined had defective ADP, epinephrine, and collagen induced aggregation and normal ristocetin induced aggregation

      CasePreviousTesting: Mutations were detected by the method of single strand conformation polymorphism (SSCP) analysis, followed by nucleotide sequencing and confirmation by restriction fragment length polymorphism (RFLP) assays. The sequences of the primers employed and the reaction conditions for PCR amplification of the exons, adjacent intronic regions, and 50 and 30 untranslated regions of the aIIb and b3 gene

      Gene: ITGB3

      Variant: NM_000212.2:c.921C>A (p.Tyr307Ter)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA400025209

      gnomAD: N/A

      CaseInfo Individual Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Nonsense Zygosity:NoZygosityAssertion PreviousTesting:Full CAiD:CA400025209 ProteinExpression:NotReported PlateletAggregation:Reported inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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  20. Local file Local file
    CPLA_A_343654_P 35..40
    1
    1. ClingenBaseline 24 Oct 2026
      11

      Case11: Female, 5 years old, Indian

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: Sibling is proband number 12 in this article

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0031364, HP:0000421 (Ecchymosis, epistaxis)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      ProteinExpression: Diagnosis of GT was made on the basis of quantitive determination of receptor count by flow cytometric analysis of GPIIb-IIIa

      PlateletAggregation: Diagnosis of GT was made on the basis of impaired platelet aggregation (platelet aggregation was tested against ristocetin, ADP, collagen, epinephrine and arachidonic acid)

      CasePreviousTesting: Multiplex PCR by using GPIIb primers and CSGE analysis were performed

      Gene: ITGA2B

      Variant: NM_000419.3:c.1600+1G>A

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA399802454

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Intronic Zygosity:NoZygosityAssertion CAiD:CA399802454 PreviousTesting:Partial ProteinExpression:Reported PlateletAggregation:Reported inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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  21. reader.elsevier.com reader.elsevier.com
    Acquired Antibodies to αIIbβ3 in Glanzmann Thrombasthenia: From Transfusion and Pregnancy to Bone Marrow Transplants and Beyond
    4
    1. ClingenBaseline 24 Oct 2026
      14.

      Case14: Female, age not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Moderate bleeding tendency

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: Minimal information, not specific enough

      CasePreviousTesting: None

      Gene: ITGA2B

      Variant: NM_000212.2:c.224del (p.Cys75LeufsTer10)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA8622899

      gnomAD: MAF in European non Finnish population 0.000008795 http://gnomad.broadinstitute.org/variant/17-45360777-TG-T

      CaseInfo Individual Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Frameshift Mutation:Nonsense Zygosity:NoZygosityAssertion ProteinExpression:NotReported PlateletAggregation:MinimalInformation inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    2. ClingenBaseline 24 Oct 2026
      3

      Case3: No gender, age, or ethnicity provided. Patient followed in Germany

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Mild bleeding

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: Minimal information, not specific enough

      CasePreviousTesting: Sanger sequencing identified disease-causing variants in 18 out of 20 patients (Probands 6 and 14 excluded) with istoantibodies to αIIbβ3. The mutations were evenly distributed between ITGB3 and ITGA2B.

      Gene: ITGB3

      Variant: Not enough information, all we are told is "premature stop in exon 3"

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: N/A

      gnomAD: N/A

      Individual CaseInfo Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:MinimalInformation ProteinExpression:NotReported PlateletAggregation:MinimalInformation Zygosity:NoZygosityAssertion PreviousTesting:Full inferred_gene_hgnc:6156 inferred_gene_source:Gene_Name ClinGen ITGA2B/ITGB3
    3. ClingenBaseline 23 Oct 2026
      8

      Case8: Female, age not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Mild bleeding

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: Minimal information, not specific enough

      CasePreviousTesting: Sanger sequencing identified disease-causing variants in 18 out of 20 patients (Probands 6 and 14 excluded) with istoantibodies to αIIbβ3. The mutations were evenly distributed between ITGB3 and ITGA2B.

      Gene: ITGB3 and ITGA2B

      Variant: NM_000419.3:c.682C>T (p.Gln228Ter) and NM_000419.3:c.1750C>T (p.Arg584Ter)

      LegacyVariant: N/A

      ClinVar: 2892 (p.Arg584Ter)

      CAiD: CA115834 (p.Arg584Ter) and CA399805421

      gnomAD: MAF in East Asian population 0.0002176 (p.Arg584Ter) http://gnomad.broadinstitute.org/variant/17-42457372-G-A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Nonsense Zygosity:NoZygosityAssertion CAiD:CA115834 CAiD:CA399805421 PreviousTesting:Full ProteinExpression:Reported PlateletAggregation:MinimalInformation inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    4. ClingenBaseline 23 Oct 2026
      5.

      Case5: Male, age or ethnicity not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Severe bleeding

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: Minimal information, not specific enough

      CasePreviousTesting: Sanger sequencing identified disease-causing variants in 18 out of 20 patients (Probands 6 and 14 excluded) with istoantibodies to αIIbβ3. The mutations were evenly distributed between ITGB3 and ITGA2B.

      Gene: ITGB3

      Variant: NM_000212.2:c.892C>G (p.Gln298Ter)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA400025097

      gnomAD: N/A

      CaseInfo Individual Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Nonsense Zygosity:NoZygosityAssertion CAiD:CA400025097 PreviousTesting:Full ProteinExpression:Reported PlateletAggregation:MinimalInformation inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    reader.elsevier.com/reader/sd/pii/S0887796318300373
  22. www.sciencedirect.com www.sciencedirect.com
    Should studies on Glanzmann thrombasthenia not be telling us more about cardiovascular disease and other major illnesses?
    4
    1. ClingenBaseline 24 Oct 2026
      3.Adult woman/Algeria

      Case2: (Patient 3) Female (adult), age not specified, Algeria

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Severe bleeding when she was a child

      CaseNotHPOs: N/A

      ProteinExpression: Absent surface expression of alphaIIbbeta3

      Platelet Aggregation: Absent platelet aggregation (this is all they mentioned)

      CasePreviousTesting: N/A

      Gene: ITGA2B

      Variant: NM_000419.3:c.1063G>A (p.Glu355Lys)

      LegacyVariant: (p.Glu324Lys)

      ClinVar: 2899

      CAiD: CA115844

      gnomAD MAF in the European (non-Finnish) population is 0.00001978 https://gnomad.broadinstitute.org/variant/17-42461008-C-T

      PreviouslyPublished: PMID: 12362239 and 23346430

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:NoZygosityAssertion ClinVarID:2899 CAiD:CA115844 ProteinExpression:MinimalInformation PlateletAggregation:MinimalInformation PreviouslyPublished inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    2. ClingenBaseline 24 Oct 2026
      Elderly man/France

      Case4: Male (elderly), age not specified, France

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      ProteinExpression: N/A

      Platelet Aggregation: N/A

      CasePreviousTesting: N/A

      Gene: ITGA2B

      Variant: NM_000419.3:c.2348+5G>C

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA290947484

      gnomAD N/A

      PreviouslyPublished: 25728920

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Intronic Zygosity:NoZygosityAssertion CAiD:CA290947484 ProteinExpression:NotReported PlateletAggregation:NotReported PreviouslyPublished inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    3. ClingenBaseline 24 Oct 2026
      1.Adult woman/France

      Case1: (Patient 1) Woman (adult), age not specific, France

      DiseaseAssertion: Glanzmann thrombasthenia (also have undergone deep vein thrombosis)

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Moderate bleeding according to Table 1

      CaseNotHPOs: N/A

      ProteinExpression: Trace amounts of residual alphaIIbbeta3 (this is all that was mentioned)

      Platelet Aggregation: Absent platelet aggregation (this is all that was mentioned)

      CasePreviousTesting: N/A

      Gene: ITGB3

      Variant: NM_000212.2:c.1448G>A (p.Cys483Tyr)

      LegacyVariant: (p.Cys457Tyr)

      ClinVar: N/A

      CAiD: CA400029324

      gnomAD N/A

      PreviouslyPublished: 12152649 and 21848888

      CaseInfo Individual Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:NoZygosityAssertion CAiD:CA400029324 ProteinExpression:MinimalInformation PlateletAggregation:MinimalInformation PreviouslyPublished inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    4. ClingenBaseline 23 Oct 2026
      Adult woman/France

      Case5: Woman (adult), age not specified, France

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      ProteinExpression: Variant GT; therefore, 50% expression alphaIIbbeta3 (See Table 4)

      Platelet Aggregation: N/A

      CasePreviousTesting: N/A

      Gene: ITGB3

      Variant: NM_000212.2:c.2227_2229CTC (p.Leu744del)

      LegacyVariant: (p.Leu718del)

      ClinVar: 627279

      CAiD: CA915940812

      gnomAD N/A

      PreviouslyPublished: PMID: 29296966

      CaseInfo Individual Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:SingleNucleotideDeletion Zygosity:NoZygosityAssertion ClinVarID:627279 ProteinExpression:MinimalInformation PlateletAggregation:NotReported PreviouslyPublished CAiD:CA915940812 inferred_gene_hgnc:11949 inferred_gene_source:ClinVar ClinGen ITGA2B/ITGB3
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    URL

    sciencedirect.com/science/article/pii/S0268960X17300073
  23. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Glanzmann Thrombasthenia in Two Iraqi-Jewish Siblings Is Caused by a Novel Splice Junction Mutation in the Glycoprotein IIb
    1
    1. ClingenBaseline 24 Oct 2026

      Case2: Female, 65 years old, Iraqi-Jewish origin

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: Her brother is the other proband in this article

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0000225, HP:0000225, HP:0031364, HP:0002249

      (Gingival bleeding, epistaxis, ecchymosis, melena)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      ProteinExpression: Surface expression GPIIb/IIIa was 11% of normal

      PlateletAggregation: Platelet aggregation in response to thrombin, collagen, ADP and epinephrine was absent, whereas ristocetin induced aggregation was normal

      CasePreviousTesting: DNA fragments containing exons and flanking intronic regions of the GPIIb gene were amplified by PCR

      Gene: ITGA2B

      Variant: NM_000419.3:c.1947-2A>G

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA399801096

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion Mutation:Intronic DiseaseEntity:GlanzmannThrombasthenia Zygosity:NoZygosityAssertion CAiD:CA399801096 PreviousTesting:Partial FamilyInfo:Minimal ProteinExpression:Reported PlateletAggregation:Reported inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    URL

    pubmed.ncbi.nlm.nih.gov/9663713-glanzmann-thrombasthenia-in-two-iraqi-jewish-siblings-is-caused-by-a-novel-splice-junction-mutation-in-the-glycoprotein-iib/
  24. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients
    4
    1. ClingenBaseline 24 Oct 2026
      M/31

      Case8: Male, 31 years old, Tamil Nadu India

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0000421, HP:0031364, HP:0000967, HP:0000225, HP:0006298

      (Epistaxis, ecchymosis, petechiae, gingival bleeding, prolonged bleeding after tooth extraction

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: See Table 1 for values

      PlateletAggregation: See Table 1 for values

      CasePreviousTesting: PCR amplification of ITAG2B and ITGB3

      Gene: ITGA2B

      Variant: NM_000419.3:c.2236G>T (p.Glu746Ter)

      LegacyVariant: (p.Glu715Ter)

      ClinVar: N/A

      CAiD: CA399798321

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Nonsense Zygosity:NoZygosityAssertion ProteinExpression:Reported PlateletAggregation:Reported PreviousTesting:Full CAiD:CA399798321 inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    2. ClingenBaseline 24 Oct 2026
      F/16

      Case11: Female, 16 years old, Tamil Nadu India

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0000225, HP:0006298, HP:0031364

      (Gingival bleeding, prolonged bleeding after dental extraction, ecchymosis)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: See Table 1 for values

      PlateletAggregation: See Table 1 for values

      CasePreviousTesting: PCR amplification of ITAG2B and ITGB3

      Gene: ITGB3

      Variant: NM_000212.2:c.1801T>G (p.Cys601Gly)

      LegacyVariant: (p.Cys575Gly)

      ClinVar: N/A

      CAiD: CA400032570

      gnomAD: N/A

      CaseInfo Individual Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:NoZygosityAssertion PreviousTesting:Full ProteinExpression:Reported PlateletAggregation:Reported CAiD:CA400032570 inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    3. ClingenBaseline 23 Oct 2026
      M/14

      Case6: Male, 14 years old, Tamil Nadu India

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0000225, HP:0006298, HP:0000967

      (Gingival bleeding, prolonged bleeding after tooth extraction, petechiae)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: See Table 1 for values

      PlateletAggregation: See Table 1 for values

      CasePreviousTesting: PCR amplification of ITAG2B and ITGB3

      Gene: ITGA2B

      Variant: NM_000419.3:c.1651C>T (p.Arg551Trp)

      LegacyVariant: (p.Arg520Trp)

      ClinVar: N/A

      CAiD: CA399802348

      gnomAD: MAF in the East Asian population is 0.00005045https://gnomad.broadinstitute.org/variant/17-42457471-G-A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:NoZygosityAssertion PreviousTesting:Full CAiD:CA399802348 ProteinExpression:Reported PlateletAggregation:Reported inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    4. ClingenBaseline 23 Oct 2026
      F/12

      Case10: Female, 12 years old, Tamil Nadu India

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0000225, HP:0006298

      (Gingival bleeding, prolonged bleeding after dental extraction)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: See Table 1 for values

      PlateletAggregation: See Table 1 for values

      CasePreviousTesting: PCR amplification of ITAG2B and ITGB3

      Gene: ITGB3

      Variant: 330_336TCCCCAGdel is not showing up in CAR noting it as Unregistered

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: Unregistered

      gnomAD: N/A

      CaseInfo Individual Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Large Zygosity:NoZygosityAssertion PreviousTesting:Full ProteinExpression:Reported PlateletAggregation:Reported UnregisteredVariant inferred_gene_hgnc:6156 inferred_gene_source:Gene_Name ClinGen ITGA2B/ITGB3
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    onlinelibrary.wiley.com/doi/full/10.1111/j.1538-7836.2006.02066.x
  25. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Three novel β-propeller mutations causing Glanzmann thrombasthenia result in production of normally stable pro-αIIb, but variably impaired progression of pro-αIIbβ3 from endoplasmic reticulum to Golgi
    1
    1. ClingenBaseline 24 Oct 2026
      Patient 2

      Case2: Patient 2, diagnosed at 5 years, gender and ethnicity not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0000421, HP:0000225, HP:0000790

      (Epistaxis, gingival bleeding, hematuria)

      CaseHPOFreeText: Reduced clot retraction

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: Immunoblot analysis of platelet lysates showed no detectable pro-αIIb or mature αIIb in any of the patient samples. Trace amounts of Beta3 were detected in samples from this patient

      PlateletAggregation: Absent in vitro platelet aggregation in response to ADP, epinephrine and collagen but a normal initial phase response to ristocetin

      CasePreviousTesting: Polymerase chain reaction (PCR), single strand conformation polymorphism (SSCP) analysis, and DNA sequencing was performed for ITGA2B

      Gene: ITGA2B

      Variant: NM_000419.3:c.953C>G (p.Ser318Leu)

      LegacyVariant: p.Ser287Leu

      ClinVar: N/A

      CAiD: CA399804788

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:NoZygosityAssertion CAiD:CA399804788 PreviousTesting:Partial ProteinExpression:Reported PlateletAggregation:Reported inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC1569905/
  26. Local file Local file
    Interesting variations on how a disease is defined: comparisons of von Willebrand disease and Glanzmann thrombasthenia
    1
    1. ClingenBaseline 24 Oct 2026
      An example fromour work is a patient

      Case1: Gender, age, ethnicity not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: Patient had less than 20% of the normal surface expression of αIIbβ3

      PlateletAggregation: N/A

      CasePreviousTesting: N/A

      Gene: ITGA2B

      Variant: NM_000419.3:c.3077G>A (p.Arg1026Gln)

      LegacyVariant: N/A

      ClinVar: 50232

      CAiD: CA10575572

      gnomAD: MAF in the European (non-Finnish) population is 0.000008801http://gnomad.broadinstitute.org/variant/17-42449775-C-T

      PreviouslyPublished: PMID: N/A Title: Expanding the Mutation Spectrum affecting αIIbβ3 integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 genes in a Large International Cohort

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Polymorphism Zygosity:NoZygosityAssertion UnregisteredVariant ProteinExpression:Reported PlateletAggregation:NotReported PreviouslyPublished inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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  27. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Factor IX gene analysis in 70 unrelated patients with haemophilia B: description of 13 new mutations
    1
    1. ClingenBaseline 23 Oct 2026
      mutation

      Case#: Attali_LY04 (assumed male, from France)

      DiseaseAssertion: Moderate Hemophilia B

      FamilyInfo: None

      ParentalTesting: None

      CasePresentingHPOs: HP:0011858

      CasePresentingHPOsFreeText: reduced factor IX activity (FIX:C: 3 ; FIX:Ag: 41)

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: 811505

      CAID: CA414435537

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414435537 ParentalTest:Unknown Zygosity:NoZygosityAssertion FIXTesting:Full DiseaseSeverity:Moderate inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    URL

    pubmed.ncbi.nlm.nih.gov/10595634/
  28. www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu
    Haemophilia A mutations in patients with non-severe phenotype associated with a discrepancy between one-stage and chromogenic factor VIII activity assays
    8
    1. ClingenBaseline 23 Oct 2026
      B17 – B27

      Case#: B17 - B27

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C Chr = 31, FVIII:AG = 90, inverse assay discrepancy present (OSA<CSA)

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers

      Gene: F8

      Variant: NM_000132.4:c.1636C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255112

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA<CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA255112 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 23 Oct 2026
      A9 – A11

      Case#: A9-A11

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 13, FVIII:AG = 28, assay discrepancy present (OSA>CSA)

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers

      Gene: F8

      Variant: NM_000132.4:c.1648C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255113

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA>CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA255113 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 23 Oct 2026
      B74

      Case#: B74

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C Chr = 19, FVIII:AG = 17, inverse assay discrepancy present (OSA<CSA)

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers

      Gene: F8

      Variant: NM_000132.4:c.5325G>C, NM_000132.4:c.5325G>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255160, CA414910668

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA<CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full MultipleGeneVariants Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 23 Oct 2026
      A12

      Case#: A12

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 28, FVIII:AG = 54, assay discrepancy present (OSA>CSA)

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers

      Gene: F8

      Variant: NM_000132.4:c.2045T>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414909247

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA>CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA414909247 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 23 Oct 2026
      A16

      Case#: A16

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 7, FVIII:AG = 23, assay discrepancy present (OSA>CSA)

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers

      Gene: F8

      Variant: NM_000132.4:c.5879G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA255019

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA>CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA255019 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    6. ClingenBaseline 22 Oct 2026
      B1 – B13

      Case#: B1 - B13

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C Chr = 17, FVIII:AG = 18, inverse assay discrepancy present (OSA<CSA)

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers

      Gene: F8

      Variant: NM_000132.4:c.940A>G

      LegacyVariant:

      ClinVar: No

      CAID: CA255084

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA<CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA255084 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    7. ClingenBaseline 22 Oct 2026
      B30. B31

      Case#: B30, B31

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C Chr = 6, FVIII:AG = 10, inverse assay discrepancy present (OSA<CSA)

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers

      Gene: F8

      Variant: NM_000132.4:c.2161A>C, NM_000132.4:c.2161A>T

      LegacyVariant:

      ClinVar: No

      CAID: CA414903738, CA414903741

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA<CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full MultipleGeneVariants Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    8. ClingenBaseline 22 Oct 2026
      B73

      Case#: B73

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C Chr = 41, FVIII:AG = 113, inverse assay discrepancy present (OSA<CSA)

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers

      Gene: F8

      Variant: NM_000132.4:c.5123G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA255154

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA<CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA255154 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    URL

    www-thieme-connect-de.libproxy.lib.unc.edu/products/ejournals/pdf/10.1160/TH13-08-0690.pdf
  29. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Genetic basis and carrier detection of hemophilia B of Chinese origin
    1
    1. ClingenBaseline 23 Oct 2026
      genetic defects

      Case#: Taipei_1 & Taipei_2 (assumed male; Chinese)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: Mothers of both families were found to be carriers as well as several other females in the family

      ParentalTesting: Mothers were carriers

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity (Patient 1: FIX:C: <1% FIX:Ag: 38 ; Patient 2: FIX:C: <1% ; FIX:Ag: 55)

      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 CAID:CA414435539 Zygosity:NoZygosityAssertion FIXTesting:Full ParentalTest:Mother DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    URL

    pubmed.ncbi.nlm.nih.gov/8470048/
  30. pdf.sciencedirectassets.com pdf.sciencedirectassets.com
    A recoded view on the F9 p.Cys178Ter pathogenic mechanism
    1
    1. ClingenBaseline 23 Oct 2026
      p.Cys28Gly

      Case#: N/A

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: Not provided

      ParentalTesting: Not provided

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: Absent

      CAID: CA414434482

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414434482 ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    pdf.sciencedirectassets.com/271043/1-s2.0-S0049384820X00028/1-s2.0-S0049384820300256/main.pdf
  31. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Analysis of F9 point mutations and their correlation to severity of haemophilia B disease
    2
    1. ClingenBaseline 23 Oct 2026
      R46S

      Case#: N/A

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: None

      ParentalTesting: None

      CasePresentingHPOs: HP:0001929

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: Absent

      CAID: CA414435596

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414435594 Zygosity:NoZygosityAssertion ParentalTest:Unknown FIXTesting:None DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 23 Oct 2026
      K45N

      Case#: N/A

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: None

      ParentalTesting: None

      CasePresentingHPOs: HP:0001929

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: Absent

      CAID: CA414435576

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435576 ParentalTest:Unknown FIXTesting:None DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2012.02848.x
  32. www-jbc-org.libproxy.lib.unc.edu www-jbc-org.libproxy.lib.unc.edu
    Factor IX San Dimas
    1
    1. ClingenBaseline 23 Oct 2026
      Factor IX San Dima

      Case#: Factor IX San Dimas Case

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: None

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity (FIX:Ag 98%; FIX:C: <0.01)

      CaseNotHPOs: N/A

      CasePreviousTesting: DNA Seq analysis of the Factor IX gene (FIX:Ag 98%; FIX:C: <0.01)

      Gene: F9

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

      LegacyVariant: p.Arg-4Gln

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435539 FIXTesting:Full ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    URL

    www-jbc-org.libproxy.lib.unc.edu/article/S0021-9258(18)60478-8/pdf
  33. pdf.sciencedirectassets.com pdf.sciencedirectassets.com
    PII: 0049-3848(92)90249-A
    2
    1. ClingenBaseline 23 Oct 2026
      (6372)

      Case#: Patient E (assumed male)

      DiseaseAssertion: Severe, Familial Hemophilia B

      FamilyInfo: Mothers were heterozygous, but patient E’s sister and aunt were non-carriers (homozygous for the cleavage)

      ParentalTesting: Mothers were heterozygous, but patient E’s sister and aunt were non-carriers (homozygous for the cleavage)

      CasePresentingHPOs: HP:0011858

      CasePresentingHPOsFreeText: reduced factor IX activity (FIX:C: <1; FIX:Ag:37/38)

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: Absent/Not Reported

      CAID: CA414435576

      gnomAD: Absent/Not Reported

      Gene: F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435576 ParentalTest:Unknown FIXTesting:Full DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 23 Oct 2026
      Arg- > Gln

      Case#: Patient D (assumed male)

      DiseaseAssertion: Severe, Sporadic Hemophilia B

      FamilyInfo: Patient D's mother is heterozygous and she has had a second, affected son. the maternal grandmother's DNA was also heterozygous

      ParentalTesting: Mother was heterozygous for the variant

      CasePresentingHPOs: HP:0011858

      CasePresentingHPOsFreeText: reduced factor IX activity (FIX:C: <1; FIX:Ag:41)

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

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

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435539 FIXTesting:Full ParentalTest:Mother DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    URL

    pdf.sciencedirectassets.com/271043/1-s2.0-S0049384800X04367/1-s2.0-004938489290249A/main.pdf
  34. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Insight into molecular changes of the FIX protein in a series of Italian patients with haemophilia B
    2
    1. ClingenBaseline 23 Oct 2026

      Case#: IG2 (Italian, assumed male)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: Not provided

      ParentalTesting: Not provided

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity (FIX:C: <1%, FIX:Ag: 15-53)

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435539 FIXTesting:Full ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 23 Oct 2026

      Case#: IG13 (Italian, assumed male)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: Not provided

      ParentalTesting: Not provided

      CasePresentingHPOs: HP:0011858

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

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

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

      ClinVar: Absent

      CAID: CA414434483

      gnomAD: Absent/Not Reported

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

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2006.01275.x
  35. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis
    1
    1. ClingenBaseline 23 Oct 2026
      mutations

      Case#: Tartary_Proband_998 (assumed male)

      DiseaseAssertion: None (FIX:C: 18)

      FamilyInfo: None

      ParentalTesting: N/A

      CasePresentingHPOs: None

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

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

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435539 FIXTesting:Partial ParentalTest:Unknown inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    URL

    pubmed.ncbi.nlm.nih.gov/8217825/
  36. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular epidemiology of factor IX germline mutations in Mexican Hispanics: pattern of mutation and potential founder effects
    1
    1. ClingenBaseline 23 Oct 2026
      mutations

      Case#: HB385

      DiseaseAssertion: Moderate Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

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

      CaseNotHPOs: None

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency CAID:CA414435539 Zygosity:NoZygosityAssertion ParentalTest:Unknown FIXTesting:Partial DiseaseSeverity:Moderate inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    pubmed.ncbi.nlm.nih.gov/8772212/
  37. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Mutation Analysis in F9 Gene of 17 Families with Haemophilia B from Iran
    1
    1. ClingenBaseline 23 Oct 2026
      7

      Case#: Enayat_Family 7

      DiseaseAssertion: Severe Hemophilia B (Familial; from Shiraz, Iran)

      FamilyInfo: Affected mothers and some sisters were investigated as the "family"

      ParentalTesting:

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity (FIX:C: < 0.01)

      CaseNotHPOs: None

      CasePreviousTesting: N/A

      Gene: F9

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

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

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435539 ParentalTest:Mother FIXTesting:Partial 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.1365-2516.2004.01041.x
  38. www.actabp.pl www.actabp.pl
    untitled
    2
    1. ClingenBaseline 23 Oct 2026

      Case#: 043 (GB); Polish origin

      DiseaseAssertion: Moderate Hemophilia B

      FamilyInfo: Not provided

      ParentalTesting: Not provided

      CasePresentingHPOs: HP:0011858

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

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: 10657

      CAID: CA255450

      gnomAD: Absent/Not Reported

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

      Case#: 014 (AD); Polish origin

      DiseaseAssertion: Moderate Hemophilia B

      FamilyInfo: Not provided

      ParentalTesting: Not provided

      CasePresentingHPOs: HP:0011858

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

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: Absent/Not Reported

      CAID: CA414435596

      gnomAD: Absent/Not Reported

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

      Case#: N/A

      DiseaseAssertion: Severe/Moderate Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: None

      CasePresentingHPOs: HP:0001929

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: Absent

      CAID: CA414434483

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414434483 FIXTesting:None ParentalTest:Unknown DiseaseSeverity:Moderate-Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0049384820300256
  40. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative
    1
    1. ClingenBaseline 23 Oct 2026
      Click here for additional data file.

      Case#: N/A

      DiseaseAssertion: Hemophilia B (severity not specified)

      FamilyInfo: Not provided

      ParentalTesting: Not provided

      CasePresentingHPOs: Not provided

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: Absent

      CAID: CA414434494

      gnomAD: Absent/NotReported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414434494 FIXTesting:None ParentalTest:Unknown inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC5727804/
  41. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    297-15.indd
    1
    1. ClingenBaseline 23 Oct 2026
      9-month old boy was diagnosed with severe haemophilia B

      Case1: Male, 9-months at time of diagnosis

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

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

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

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

      Gene: F9

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

      LegacyVariant: g 30863 C>T; Arg 248 stop

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

      gnomAD: Not reported

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

      Case#: Awidi_Variant_1 (9 patients, 2 families)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: Positive family history

      ParentalTesting: Positive family history

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: None

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Zygosity:NoZygosityAssertion CAID:CA414435539 ParentalTest:Unknown Mutation:Missense DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2010.02365.x
  43. 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 23 Oct 2026
      mutation

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

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

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

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435539 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    pubmed.ncbi.nlm.nih.gov/9600455/
  44. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity
    1
    1. ClingenBaseline 23 Oct 2026
      Table S3. F9 mutations

      Case#: Miller_Proband 2 (male)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414435539 Zygosity:NoZygosityAssertion ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2011.02700.x
  45. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Characterization of genetic defects of hemophilia B of Chinese origin
    1
    1. ClingenBaseline 23 Oct 2026
      genetic defects

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

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: None

      CasePresentingHPOs: HP:0011858

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

      CaseNotHPOs: N/A

      CasePreviousTesting: None

      Gene: F9

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

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

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

      Case#: Quadros_Proband_ ID_#2

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: None

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: None

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: Absent

      CAID: CA414435439

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414435439 Zygosity:NoZygosityAssertion ParentalTest:Unknown FIXTesting:None DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    illiad.lib.unc.edu/NOH/illiad.dll
  47. onlinelibrary.wiley.com onlinelibrary.wiley.com
    HAE_2744 201..209
    2
    1. ClingenBaseline 23 Oct 2026
      GT1

      Case1: (GT1), Male, 60 years old, French Gypsy

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Mucocutaneous bleeding defects

      CaseNotHPOs: N/A

      ProteinExpression: <5% surface expression levels of αIIbβ3

      Platelet Aggregation: Absent platelet aggregation to all agonists (no mention for which agonists or response to ristocetin)

      CasePreviousTesting: All the information we are given is "mutation screening of the ITGA2B and ITGB3 genes" the method for sequencing etc. was not stated

      Gene: ITGB3

      Variant: NM_000212.2:c.1031A>C (p.Tyr344Ser)

      LegacyVariant: (p.Tyr318Ser) (The paper gives legacy and current nomenclature)

      ClinVar: N/A

      CAiD: CA400025814

      gnomAD N/A

      CaseInfo Individual Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:NoZygosityAssertion CAiD:CA400025814 PreviousTesting:Full ProteinExpression:Reported PlateletAggregation:MinimalInformation inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    2. ClingenBaseline 23 Oct 2026
      GT3

      Case3: (GT3) Male, 82 years old, French

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Mucocutaneous bleeding

      CaseNotHPOs: N/A

      ProteinExpression: 8-10% surface expression levels of αIIbβ3

      Platelet Aggregation: Absent platelet aggregation to all agonists (no mention for which agonists or response to ristocetin)

      CasePreviousTesting: All the information we are given is "mutation screening of the ITGA2B and ITGB3 genes" the method for sequencing etc. was not stated

      Gene: ITGA2B

      Variant: NM_000419.3:c.2348+5G>C

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA290947484

      gnomAD N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Splice Zygosity:NoZygosityAssertion CAiD:CA290947484 ProteinExpression:Reported PlateletAggregation:MinimalInformation inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    onlinelibrary.wiley.com/doi/full/10.1111/j.1365-2516.2011.02744.x
  48. europepmc.org europepmc.org
    In silico analysis of structural modifications in and around the integrin αIIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombasthenia
    2
    1. ClingenBaseline 23 Oct 2026

      Supplemental Table S1:

      Case2: Female, India, age not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: Absent platelet aggregation (all the information that is provided in Supp. Table S1)

      CasePreviousTesting: Sanger sequencing of exons, splice sites and untranslated regions of the ITGA2B and ITGB3 genes was performed

      Gene: ITGA2B

      Variant: NM_000419.3:c.1520C>G (p.Pro507Arg)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA399802643

      gnomAD: N/A

      PreviouslyPublished: PMID: 16463284

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:NoZygosityAssertion CAiD:CA399802643 PreviousTesting:Full ProteinExpression:NotReported PlateletAggregation:MinimalInformation PreviouslyPublished SupplementalData inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    2. ClingenBaseline 23 Oct 2026

      Supplemental Table S1:

      Case4: Male, India, age not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Bleeding from multiple sites

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: >5% αIIbβ3 expression

      PlateletAggregation: Absent platelet aggregation (all the information that is provided in Supp. Table S1)

      CasePreviousTesting: Sanger sequencing of exons, splice sites and untranslated regions of the ITGA2B and ITGB3 genes was performed

      Gene: ITGA2B

      Variant: NM_000419.3:c.1651C>T (p.Arg551Trp)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA399802348

      gnomAD: MAF in the East Asian population is 0.00005045 https://gnomad.broadinstitute.org/variant/17-42457471-G-A

      PreviouslyPublished: PMID: 16879215

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:NoZygosityAssertion CAiD:CA399802348 PreviousTesting:Full ProteinExpression:Reported PlateletAggregation:MinimalInformation PreviouslyPublished SupplementalData inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    europepmc.org/article/med/29385657
  49. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    High-level transgene expression in induced pluripotent stem cell–derived megakaryocytes: correction of Glanzmann thrombasthenia
    1
    1. ClingenBaseline 23 Oct 2026
      GTP2

      Case2: GTP2, gender, age, or ethnicity not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: N/A

      CasePreviousTesting: N/A

      Gene: ITGA2B

      Variant: NM_000419.3:c.818G>A (p.Gly273Asp)

      LegacyVariant: N/A

      ClinVar: 2894

      CAiD: CA115837

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:NoZygosityAssertion ProteinExpression:NotReported PlateletAggregation:NotReported CAiD:CA115837 ClinVarID:2894 inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pmc/articles/PMC3907760/
  50. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations
    1
    1. ClingenBaseline 22 Oct 2026
      Arg-4Gln

      Case#: 27HBT98 (Turkish; assumed male)

      DiseaseAssertion: Moderate Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: Not provided

      CasePresentingHPOs: HP:0011858

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

      CasePreviousTesting: N/A

      Gene: F9

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

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

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435539 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Moderate inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1046/j.1365-2141.2003.04141.x
  51. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Targeted re-sequencing of F8, F9 and VWF: Characterization of Ion Torrent data and clinical implications for mutation screening
    1
    1. ClingenBaseline 22 Oct 2026
      HB_140

      Case#: HB_140 (assumed male)

      DiseaseAssertion: Moderate-Severe Hemophilia B

      FamilyInfo: Not provided

      ParentalTesting: Not provided

      CasePresentingHPOs: N/A

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

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: Absent

      CAID: CA414434483

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414434483 FIXTesting:None ParentalTest:Unknown DiseaseSeverity:Moderate-Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6485758/
  52. link.springer.com link.springer.com
    Germline origins in the human F9 gene: frequent G:C→A:T mosaicism and increased mutations with advanced maternal age
    1
    1. ClingenBaseline 22 Oct 2026
      mutation

      Case#: HB189 (assumed male, Hawaiian)

      DiseaseAssertion: No disease assertion made

      FamilyInfo: Of the 30 families, germline or so- matic origins were found in 9 mothers, 5 maternal grandmothers, and 16 maternal grandfathers. For the 29 incomplete families, origins were found in 14 mothers, 5 maternal grandmothers, and 10 maternal grandfathers. Comparing the two family types shows no significant difference (P=0.29), suggesting that no major bias occurs in the analyses because of the inclusion of incomplete families

      ParentalTesting: N/A

      CasePresentingHPOs: N/A

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: 811505

      CAID: CA414435537

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked Mutation:Missense DiseaseEntity:FactorIXDeficiency Zygosity:NoZygosityAssertion CAID:CA414435537 FIXTesting:None inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    link.springer.com/article/10.1007/s004399900158
  53. link.springer.com link.springer.com
    Variants in FIX propeptide associated with vitamin K antagonist hypersensitivity: functional analysis and additional data confirming the common founder mutations
    1
    1. ClingenBaseline 22 Oct 2026
      Thr37

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

      DiseaseAssertion: Hemophilia B

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

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

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

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: 804089

      CAID: CA10529736

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

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA10529736 FIXTesting:Full ParentalTest:Unknown inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    URL

    link.springer.com/article/10.1007/s00277-018-3264-2