19 Matching Annotations
  1. Oct 2026
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A genetic analysis of 23 Chinese patients with hemophilia B
    11
    1. ClingenBaseline 25 Oct 2026
      1

      Case#: 1

      DiseaseAssertion: Hemophilia B, moderate

      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.1324G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA255418

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Inhibitor:NotReported Mutation:Missense CAID:CA255418 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 25 Oct 2026
      6

      Case#: 6

      DiseaseAssertion: Hemophilia B, moderate

      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.1307C>A

      LegacyVariant:

      ClinVar: No

      CAID: CA255413

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation: Missense Inhibitor:NotReported CAID:CA255413 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 25 Oct 2026
      17

      Case#: 17

      DiseaseAssertion: Hemophilia B, moderate

      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.172G>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414435830

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense CAID:CA414435830 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 24 Oct 2026
      8

      Case#: 8

      DiseaseAssertion: Hemophilia B, moderate

      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.349T>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414437669

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense CAID:CA414437669 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 24 Oct 2026
      16

      Case#: 16

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C = 1.5%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F9

      Variant: NM_000133.3:c.427C>G

      LegacyVariant:

      ClinVar: No

      CAID: CA414438921

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense CAID:CA414438921 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    6. 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
    7. 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
    8. ClingenBaseline 22 Oct 2026
      19

      Case#: 19

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C = 1.9%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F9

      Variant: NM_000133.3:c.755G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414443205

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense CAID:CA414443205 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    9. ClingenBaseline 22 Oct 2026
      18

      Case#: 18

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C = 3.9%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F9

      Variant: NM_000133.3:c.284A>G

      LegacyVariant:

      ClinVar: No

      CAID: CA414437372

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense CAID:CA414437372 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    10. ClingenBaseline 22 Oct 2026
      3

      Case#: 3

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C = 2%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F9

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

      LegacyVariant:

      ClinVar: No

      CAID: CA255368

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation: Missense Inhibitor:NotReported CAID:CA255368 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    11. ClingenBaseline 21 Oct 2026
      13

      Case#: 13

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C = 3.7%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F9

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

      LegacyVariant:

      ClinVar: No

      CAID: CA414437883

      gnomAD:

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

    ncbi.nlm.nih.gov/pmc/articles/PMC4842959/
  3. journals.lww.com journals.lww.com
    Molecular genetics and transfusion management in a child... : Blood Coagulation & Fibrinolysis
    1
    1. ClingenBaseline 25 Oct 2026
      The proband, 12-year-old boy with moderate bleeding history, had manifest prolonged activated partial thromboplastin time (98.1 s) and markedly decreased FIX activity (1%).

      Case#: 12 year old male

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: Uncle had mild Hemophilia B

      ParentalTesting: No

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C = 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: exons and introns were amplified by PCR and subsequently analyzed by direct sequencing

      Gene: F9

      Variant:

      LegacyVariant:

      ClinVar:

      CAID:

      gnomAD:

      CaseInfo Gene:F9 HGNC:3551 InheritancePattern:Xlinked DiseaseSeverity:ModerateHemophiliaB Zygosity:Hemizygous PreviousTesting:None FIXtesting:Full ParentalTest:Unknown FamilyInfo DiseaseEntity:FactorIXDeficiency inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    URL

    journals.lww.com/bloodcoagulation/fulltext/2020/03000/a_novel_missense_mutation_in_f9_gene_causes.2.aspx
  4. 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
    6
    1. ClingenBaseline 24 Oct 2026
      25.

      Case#: 25

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C = 2%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F9

      Variant: NM_000133.3:c.1204G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414446446

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414446446 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    2. 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
    3. 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
    4. ClingenBaseline 22 Oct 2026
      30.

      Case#: 30

      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.1291T>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414447130

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414447130 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 22 Oct 2026
      21.

      Case#: 21

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C = 2%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F9

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

      LegacyVariant:

      ClinVar: No

      CAID: CA255394

      gnomAD:

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

      Case#: 15

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C = 3.5%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F9

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

      LegacyVariant:

      ClinVar: No

      CAID: CA255368

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA255368 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4220540/
  5. oce-ovid-com.libproxy.lib.unc.edu oce-ovid-com.libproxy.lib.unc.edu
    A novel missense mutation in F9 gene causes hemophilia B in a family with clinical variability
    1
    1. ClingenBaseline 24 Oct 2026
      Fig. 1

      Case#: 12 year old male

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: Mother was a carrier. Maternal uncle has the same hemizygous mutation

      ParentalTesting: Family Pedigree reveals that the mother was a carrier of the variant identified in the proband

      CasePresentingHPOs: HP:0011858, HP:0030839

      CaseHPOFreeText: FIX:C = 1%, proband had a history of soft tissue hemorrhages since 7 years of age

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: Direct nucleotide sequencing was completed

      Gene: F9

      Variant: NM_000133.3:c.157G>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414435729

      gnomAD:

      DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense Zygosity:Hemizygous PreviousTesting:Additional FIXtesting:Partial ParentalTest:Both FamilyInfo Gene:F9 HGNC:3551 CAID:CA414435729 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    URL

    oce-ovid-com.libproxy.lib.unc.edu/article/00001721-202003000-00002/HTML