5,487 Matching Annotations
  1. Oct 2026
  2. academic-oup-com.libproxy.lib.unc.edu academic-oup-com.libproxy.lib.unc.edu
    Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function
    1
    1. ClingenBaseline 24 Oct 2026
      Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function

      PMID: 11309364

      Variant p.Q422R and p.P375Q

      Gene: PAX6

      Disease: Ocular dysgenesis

      InheritancePattern: AD

      Notes both p.q422R and p.P375Q had lower transcriptional activation of HD targeted sequences and lost binding to homeobox domain sequences in EMSA assay showing that the AA substitution constituted a loss of function for DNA binding with the homeobox DNA binding domain. Proband was positve for aniridia, foveal hypoplasia and cataracts in a 3yo girl.

      Gene:PAX6 ClinGen VariantCuration inferred_gene_hgnc:8620 inferred_gene_source:Gene_Name UNC Biocuration Core
    Visit annotations in context

    Tags

    Annotators

    URL

    academic-oup-com.libproxy.lib.unc.edu/hmg/article/10/9/911/2901585
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations
    1
    1. ClingenBaseline 24 Oct 2026
      Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations

      PMID:

      Gene: OPA1

      Disease: hereditary optic neuropathy

      980 patients in this study with suspected hereditary optic neuropathies were evaluated by searching for the ten primary LHON-causing mtDNA mutations and examining the entire coding sequences of the OPA1 and OPA3 genes. 295 had variants in OPA1; however the exact count for this variant was not provided and neither was any additional phenotypic information.

      ClinGen General OPA1 InsufficientEvidence Variant:1800C>G CAID:CA10575554 inferred_gene_hgnc:8140 inferred_gene_source:CAID UNC Biocuration Core
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/19319978/
  4. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    GALNS mutations in Indian patients with mucopolysaccharidosis IVA
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1002/ajmg.a.36735
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC9291100/
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC2649307/
  7. dev.biologists.org dev.biologists.org
    ArhGEF18 regulates RhoA-Rock2 signaling to maintain neuro-epithelial apico-basal polarity and proliferation
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    dev.biologists.org/content/140/13/2787
  8. www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu
    Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu/pmc/articles/PMC3110022/
  9. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Canine GM2-Gangliosidosis Sandhoff Disease Associated with a 3-Base Pair Deletion in the HEXB Gene
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/29106755/
  10. link.springer.com link.springer.com
    Late-Onset Combined Immunodeficiency with Refractory CMV Disease due to ICOSL Deficiency
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    link.springer.com/article/10.1007/s10875-021-01162-9
  11. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/33782094/
  12. www.sciencedirect.com www.sciencedirect.com
    Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S0002929716305407
  13. academic.oup.com academic.oup.com
    Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns−/−) produced by targeted disruption of the gene defective in Morquio A disease
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    academic.oup.com/hmg/article/12/24/3349/557862
  14. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    Conditional disruption of hepatic carbamoyl phosphate synthetase 1 in mice results in hyperammonemia without orotic aciduria and can be corrected by liver-directed gene therapy
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S1096719218300593
  15. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    Molecular genetic assay of mucopolysaccharidosis IVA in South China
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0378111913011724
  16. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    H syndrome: The first 79 patients
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0190962213009705
  17. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/10595634/
  18. 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
    11
    1. 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
    2. 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
    3. 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
    4. 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
    5. 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
    6. 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
    7. 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
    8. 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
    9. 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
    10. 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
    11. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4220540/
  19. 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
    5
    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
    3. 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
    4. 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
    5. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    www-thieme-connect-de.libproxy.lib.unc.edu/products/ejournals/pdf/10.1160/TH13-08-0690.pdf
  20. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutation detection and inhibitor risk in Iranian patients with Hemophilia A: Six novel mutations
    3
    1. ClingenBaseline 23 Oct 2026
      S27

      Case#: S27, Iranian

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125, HP:0005261

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.3637delA

      LegacyVariant:

      ClinVar: No

      CAID: CA255146

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Frameshift CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 23 Oct 2026
      S8

      Case#: S8, Iranian

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: Family history of HA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125, HP:0005261

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NA

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

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

      Case#: S16, Iranian

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125, HP:0005261

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NA

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

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

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7752620/
  21. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/29388273/
  22. onlinelibrary.wiley.com onlinelibrary.wiley.com
    hae14141-sup-0001-tables1.pdf
    37
    1. ClingenBaseline 23 Oct 2026
      97

      Case#: 97, male, 66 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 2%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.6517A>G

      LegacyVariant:

      ClinVar: No

      CAID: CA414907348

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414907348 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 23 Oct 2026
      108

      Case#: 108, male, 36 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 3.3%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.6870G>T

      LegacyVariant:

      ClinVar: No

      CAID: CA414903147

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense SupplementalData CAID:CA414903147 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 23 Oct 2026
      40

      Case#: 40, male, 32 years old, Chinese

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 24.5%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.871G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414918134

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense CAID:CA414918134 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 23 Oct 2026
      117

      Case#: 117, male, 8 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.5219+1G>A

      LegacyVariant:

      ClinVar: 993734

      CAID: CA414913420

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Splice ParentalConfirmation:Maternity SupplementalData CAID:CA414913420 ClinVarID:993734 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 23 Oct 2026
      152

      Case#: 152, male, 27 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 3.6%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.2777delC

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    6. ClingenBaseline 23 Oct 2026
      123

      Case#: 123, male, 7 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.6273+1G>T

      LegacyVariant:

      ClinVar: No

      CAID: CA414902680

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Splice ParentalConfirmation:Maternity SupplementalData CAID:CA414902680 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    7. ClingenBaseline 23 Oct 2026
      175

      Case#: 175, male, 32 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 1.4%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.del exons5_6

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large ParentalConfirmation:Maternity SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    8. ClingenBaseline 23 Oct 2026
      183

      Case#: 183, male, 38 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.del exons15_26

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large ParentalConfirmation:Maternity SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    9. ClingenBaseline 23 Oct 2026
      101

      Case#: 101, male, 7 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 3%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.6611T>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414906072

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414906072 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    10. ClingenBaseline 23 Oct 2026
      73

      Case#: 73, male, 67 years old, Chinese

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 6%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.5422C>T

      LegacyVariant:

      ClinVar: 10278

      CAID: CA255166

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA255166 ClinVarID:10278 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    11. ClingenBaseline 23 Oct 2026
      164

      Case#: 164, male, 43 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.4339delG

      LegacyVariant:

      ClinVar: No

      CAID: CA873341376

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA873341376 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    12. ClingenBaseline 23 Oct 2026
      24

      Case#: 24, male, 8 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.6666G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414905572

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense ParentalConfirmation:Maternity CAID:CA414905572 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    13. ClingenBaseline 23 Oct 2026
      142

      Case#: 142, male, 22 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 1.7%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.599_601delAAG

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:InframeDel SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    14. ClingenBaseline 23 Oct 2026
      10

      Case#: 10, male, 9 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 2.1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.1596G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414912044

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense DiseaseEntity:FactorVIIIDeficiency CAID:CA414912044 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    15. ClingenBaseline 23 Oct 2026
      42

      Case#: 42, male, 24 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 1.2%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

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

      LegacyVariant:

      ClinVar: No

      CAID: CA414917990

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414917990 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    16. ClingenBaseline 23 Oct 2026
      166

      Case#: 166, male, 12 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.4379delA

      LegacyVariant:

      ClinVar: No

      CAID: CA255151

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA255151 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    17. ClingenBaseline 23 Oct 2026
      26

      Case#: 26, male, 13 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.6976C>T

      LegacyVariant:

      ClinVar: 10085

      CAID: CA255007

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense ParentalConfirmation:Maternity CAID:CA255007 ClinVarID:10085 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    18. ClingenBaseline 23 Oct 2026
      36

      Case#: 36, male, 10 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.387G>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414919866

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414919866 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    19. ClingenBaseline 23 Oct 2026
      139

      Case#: 139, male, 17 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.dup exons7_22

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    20. ClingenBaseline 23 Oct 2026
      115

      Case#: 115, male, 37 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.1271+1G>A

      LegacyVariant:

      ClinVar: 811704

      CAID: CA414915622

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Splice ParentalConfirmation:Maternity SupplementalData CAID:CA414915622 ClinVarID:811704 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    21. ClingenBaseline 23 Oct 2026
      13

      Case#: 13, male, 24 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.1861C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA414910596

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense CAID:CA414910596 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    22. ClingenBaseline 23 Oct 2026
      16

      Case#: 16, male, 22 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.2404C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA414901774

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense ParentalConfirmation:Maternity CAID:CA414901774 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    23. ClingenBaseline 23 Oct 2026
      161

      Case#: 161, male, 8 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 1.5%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.3637delA

      LegacyVariant:

      ClinVar: No

      CAID: CA255146

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    24. ClingenBaseline 23 Oct 2026
      88

      Case#: 88, male, 29 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 2%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.6406G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414899430

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414899430 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    25. ClingenBaseline 23 Oct 2026
      80

      Case#: 80, male, 52 years old, Chinese

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 10.9%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.5707G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414907751

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414907751 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    26. ClingenBaseline 23 Oct 2026
      56

      Case#: 56, male, 12 years old, Chinese

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 29%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

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

      LegacyVariant:

      ClinVar: 10236

      CAID: CA255129

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA255129 ClinVarID:10236 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    27. ClingenBaseline 23 Oct 2026
      69

      Case#: 69, male, 11 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 1.1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.5321A>T

      LegacyVariant:

      ClinVar: No

      CAID: CA414910719

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414910719 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    28. ClingenBaseline 23 Oct 2026
      34

      Case#: 34, male, 25 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.382T>C

      LegacyVariant:

      ClinVar: 811825

      CAID: CA414919878

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414919878 ClinVarID:811825 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    29. ClingenBaseline 23 Oct 2026
      75

      Case#: 75, male, 14 years old, Chinese

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 16.5%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.5545T>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414908552

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414908552 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    30. ClingenBaseline 23 Oct 2026
      179

      Case#: 179, male, 11 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.del exon14

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large ParentalConfirmation:Maternity SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    31. ClingenBaseline 23 Oct 2026
      146

      Case#: 146, male, 13 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.209_212delTTGT

      LegacyVariant:

      ClinVar: No

      CAID: CA255050

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA255050 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    32. ClingenBaseline 23 Oct 2026
      61

      Case#: 61, male, 7 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.2066T>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414909145

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense DiseaseEntity:FactorVIIIDeficiency CAID:CA414909145 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    33. ClingenBaseline 23 Oct 2026
      132

      Case#: 132, male, 28 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 2.7%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.4379dupA

      LegacyVariant:

      ClinVar: No

      CAID: CA645292749

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA645292749 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    34. ClingenBaseline 23 Oct 2026
      7

      Case#: 7, male, 8 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.1063C>T

      LegacyVariant:

      ClinVar: 10139

      CAID: CA255031

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial ParentalConfirmation:Maternity Mutation:Nonsense CAID:CA255031 ClinVarID:10139 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    35. ClingenBaseline 23 Oct 2026
      45

      Case#: 45, male, 75 years old, Chinese

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 6.5%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.1172G>A

      LegacyVariant:

      ClinVar: 10111

      CAID: CA120918

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA120918 ClinVarID:10111 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    36. ClingenBaseline 23 Oct 2026
      157

      Case#: 157, male, 30 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 1.2%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.3637delA

      LegacyVariant:

      ClinVar: No

      CAID: CA255146

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    37. ClingenBaseline 23 Oct 2026
      1

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

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.36C>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414920668

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Nonsense Zygosity:Hemizygous ParentalConfirmation:Maternity CAID:CA414920668 SupplementalData FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/action/downloadSupplement
  23. 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
    9
    1. 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
    2. 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
    3. 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
    4. 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
    6. 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
    7. 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
    8. 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
    9. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC2275016/
  24. www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu
    Untitled document
    35
    1. 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
    2. 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
    3. ClingenBaseline 23 Oct 2026
      009–1006

      Case#: 009-1006

      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.822G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA255072

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Nonsense FIXtesting:Partial SupplementalData CAID:CA255072 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 23 Oct 2026
      071–2015

      Case#: 071-2015

      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.2710dupC

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 23 Oct 2026
      071–1037

      Case#: 071-1037

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 1% < FVIII:C < 5%, 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.3169G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA255144

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FIXtesting:Partial SupplementalData CAID:CA255144 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    6. 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
    7. 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
    8. 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
    9. 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
    10. ClingenBaseline 23 Oct 2026
      001–1038

      Case#: 001-1038

      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.6065G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414904814

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Missense FIXtesting:Partial SupplementalData CAID:CA414904814 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    11. ClingenBaseline 23 Oct 2026
      038–1013

      Case#: 038-1013

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant:

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    12. 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
    13. 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
    14. ClingenBaseline 23 Oct 2026
      015–2005

      Case#: 015-2005

      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.3637delA

      LegacyVariant:

      ClinVar: No

      CAID: CA255146

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    15. ClingenBaseline 23 Oct 2026
      071–1015

      Case#: 071-1015

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant:

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    16. ClingenBaseline 23 Oct 2026
      035–2003

      Case#: 035-2003

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.4825dupA

      LegacyVariant:

      ClinVar: No

      CAID: CA255152

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA255152 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    17. ClingenBaseline 23 Oct 2026
      028–1002

      Case#: 028-1002

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant:

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    18. 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
    19. ClingenBaseline 23 Oct 2026
      035–2007

      Case#: 035-2007

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.1963_1964insT

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    20. 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
    21. 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
    22. ClingenBaseline 23 Oct 2026
      001–1060

      Case#: 001-1060

      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.686C>G

      LegacyVariant:

      ClinVar: No

      CAID: CA414919141

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FIXtesting:Partial SupplementalData Mutation:Nonsense CAID:CA414919141 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    23. ClingenBaseline 23 Oct 2026
      047–1020

      Case#: 047-1020

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 1% < FVIII:C < 5%, 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.3169G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA255144

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FIXtesting:Partial SupplementalData CAID:CA255144 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    24. ClingenBaseline 23 Oct 2026
      091–2009

      Case#: 091-2009

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.2681delG

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    25. 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
    26. ClingenBaseline 23 Oct 2026
      071–1036

      Case#: 071-1036

      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:

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    27. 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
    28. 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
    29. ClingenBaseline 23 Oct 2026
      001–2027

      Case#: 001-2027

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.1869_1870delG

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    30. ClingenBaseline 23 Oct 2026
      015–2003

      Case#: 015-2003

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.3637delA

      LegacyVariant:

      ClinVar: No

      CAID: CA255146

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    31. 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
    32. 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
    33. 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
    34. 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
    35. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    www-thieme-connect-de.libproxy.lib.unc.edu/media/10.1055-s-00035024/202105/supmat/10-1055-s-0040-1721385-s200426.pdf
  25. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A genetic analysis of 23 Chinese patients with hemophilia B
    4
    1. 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
    2. 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
    3. 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
    4. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4842959/
  26. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/8470048/
  27. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/pdf/10.1046/j.1365-2141.1997.2213036.x
  28. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    pdf.sciencedirectassets.com/271043/1-s2.0-S0049384820X00028/1-s2.0-S0049384820300256/main.pdf
  29. 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
    10
    1. 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
    2. 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
    3. 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
    4. 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
    5. 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
    6. 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
    7. 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
    8. 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
    9. 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
    10. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    www-thieme-connect-com.libproxy.lib.unc.edu/products/ejournals/pdf/10.1160/TH16-05-0375.pdf
  30. 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
    5
    1. 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
    2. 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
    3. 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
    4. 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
    5. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5330775/
  31. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    First report on UK database of haemophilia B mutations and pedigrees. UK Haemophilia Centres
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/8091381/
  32. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/ijlh.12634
  33. 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
    3
    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
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2012.02848.x
  34. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    A recoded view on the F9 p.Cys178Ter pathogenic mechanism
    2
    2. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0049384820300256
  35. illiad.lib.unc.edu illiad.lib.unc.edu
    3072516.pdf
    1
    1. ClingenBaseline 23 Oct 2026

      Case#: Calgary 4

      DiseaseAssertion: Hemophilia B

      FamilyInfo: 9 carrier females, 3 affected males, 1 female obligate carrier

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0001929

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

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

      ClinVar: Absent

      CAID: CA10529708

      gnomAD: Filtering AF: 0.0007752 (no homozygotes)

      Variant: NM_000133.3:c.1150C>T (p.Arg384Ter)

      LegacyVariant: c.31133C>T (p.Arg338Ter)

      ClinVar: Absent

      CAID: CA255399

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA10529708 Mutation:Nonsense CAID:CA255399 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    illiad.lib.unc.edu/NOH/illiad.dll
  36. ashpublications-org.libproxy.lib.unc.edu ashpublications-org.libproxy.lib.unc.edu
    Genetic determinants of VWF clearance and FVIII binding modify FVIII pharmacokinetics in pediatric hemophilia A patients
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ashpublications-org.libproxy.lib.unc.edu/blood/article/134/11/880/273874/Genetic-determinants-of-VWF-clearance-and-FVIII
  37. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    www-jbc-org.libproxy.lib.unc.edu/article/S0021-9258(18)60478-8/pdf
  38. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Profil du facteur Von Willebrand dans la grossesse: étude descriptive chez 390 femmes enceintes au Maroc
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6691299/
  39. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2008.01796.x
  40. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Extended half‐life rFIX in major surgery—How to improve clinical practice: An intraindividual comparison
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7069879/
  41. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family
    1
    1. ClingenBaseline 23 Oct 2026
      Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family R. Schwaab, Institute for Experimental Haematology and Transfusion Medicine, Sigmund-Freud-Str. 25, 53105 Bonn, Germany,Search for more papers by this authorJ. Oldenburg, Institute for Experimental Haematology and Transfusion Medicine, Sigmund-Freud-Str. 25, 53105 Bonn, Germany, Department of Human Genetics, Biozentrum, Am Hubland, 97074 Würzburg, Germany,Search for more papers by this authorG. Kemball-Cook, Haemostasis Research Group, MRC Clinical Sciences Centre, Imperial College Medical School, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK, andSearch for more papers by this authorT. Albert, Institute for Experimental Haematology and Transfusion Medicine, Sigmund-Freud-Str. 25, 53105 Bonn, Germany,Search for more papers by this authorC. Juhler, University Hospital Skejby, Department of Clinical Immunology, Centre for Haemophilia and Thrombosis, DK-8200 Aarhus N, Denmark Search for more papers by this authorP. Hanfland, Institute for Experimental Haematology and Transfusion Medicine, Sigmund-Freud-Str. 25, 53105 Bonn, Germany,Search for more papers by this authorJ. Ingerslev, University Hospital Skejby, Department of Clinical Immunology, Centre for Haemophilia and Thrombosis, DK-8200 Aarhus N, Denmark Search for more papers by this author

      PMID: 10886198

      Gene: F8

      HGNCID: 3546

      General Gene:F8 HGNC:3546 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1046/j.1365-2141.2000.02021.x
  42. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular analysis of hemophilia B in Poland: 12 novel mutations of the factor IX gene
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/10698280/
  43. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations
    3
    1. ClingenBaseline 23 Oct 2026
      c.138G>C p.Arg46Ser

      Case#: Guo_Proband_5 (assumed male; Chinese)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: None

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity FIX:C: <1 %; FIX:Ag: 35)

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: Absent

      CAID: CA414435594

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense FIXTesting:Full ParentalTest:Unknown DiseaseSeverity:Severe CAID:CA414435594 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 23 Oct 2026

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

      DiseaseAssertion: Moderate Hemophilia B

      FamilyInfo: None

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

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

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: Absent

      CAID: CA414434363

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414434363 FIXTesting:Full ParentalTest:Unknown DiseaseSeverity:Moderate ExperimentalAssay inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/pdf/10.1111/hae.12534
  44. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Heteroduplex screening for molecular defects in factor IX genes from haemophilia B families
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/pdf/10.1111/j.1365-2141.1995.tb03319.x
  45. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    pdf.sciencedirectassets.com/271043/1-s2.0-S0049384800X04367/1-s2.0-004938489290249A/main.pdf
  46. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative
    2
    2. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5727804/
  47. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Single Domain Antibody Fragments as New Tools for the Detection of Neuronal Tau Protein in Cells and in Mice Studies. - PubMed - NCBI
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pubmed/31380615
  48. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2006.01275.x
  49. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/8217825/
  50. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identification of a novel mutation in the factor VIII gene causing severe haemophilia A
    1
    1. ClingenBaseline 23 Oct 2026
      A 68-year-old male was diagnosed with severe HEMA in early childhood

      Case#: 68 year old male

      DiseaseAssertion: Hemophilia A, severe

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

      ParentalTesting: No

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 0.001%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: Whole exome sequencing was performed and subsequently analyzed

      Gene: F8

      Variant: NM_000132.3:c.5411_5413del

      LegacyVariant:

      ClinVar: No

      CAID: NA

      gnomAD:

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

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6069878/
  51. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Design and characterisation of a novel interleukin-15 receptor alpha fusion protein and analysis of interleukin-15 complexation
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6660064/
  52. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular epidemiology of factor IX germline mutations in Mexican Hispanics: pattern of mutation and potential founder effects
    1
    1. ClingenBaseline 23 Oct 2026
      mutations

      Case#: HB385

      DiseaseAssertion: Moderate Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

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

      CaseNotHPOs: None

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

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

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/8772212/
  53. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5992121/
  54. 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
    2
    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
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2004.01041.x
  55. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    High resolution melting for F9 gene mutation analysis in patients with haemophilia B
    1
    1. ClingenBaseline 23 Oct 2026
      c.59T>C

      Case#: Salviato_Proband_1164 (male, Chinese)

      DiseaseAssertion: Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: Absent

      CAID: CA414434363

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414434363 FIXTesting:None inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6343595/
  56. link.springer.com link.springer.com
    Outcomes After Urgent Thyroidectomy Following Rapid Control of Thyrotoxicosis in Graves' Disease are Similar to Those After Elective Surgery in Well-Controlled Disease.
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    link.springer.com/article/10.1007/s00268-019-05125-5
  57. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6687662/
  58. 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
    5
    1. ClingenBaseline 23 Oct 2026
      Table 1

      Case#: Cz6, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Sporadic

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C <1%

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

      Gene: F8

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

      ClinVar: NA

      CAID: CA414891965

      gnomAD: Not reported

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

      Case#: Cz40, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C 2.5%

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

      Gene: F8

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

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

      CAID: CA873354114

      gnomAD: Not reported

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

      Case#: Cz5, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C 4%

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

      Gene: F8

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

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

      CAID: CA873354114

      gnomAD: Not reported

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

      Case#: Cz13, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C 4%

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

      Gene: F8

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

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

      CAID: CA873354114

      gnomAD: Not reported

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

      Case#: Cz7, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Sporadic

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C <1%

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

      Gene: F8

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

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

      CAID: CA255155

      gnomAD: Not reported

      CaseInfo HGNC:3546 InheritancePattern:DeNovoAssertion DiseaseEntity:FactorVIIIDeficiency ParentalTest:Unknown Zygosity:NoZygosityAssertion ClinVarID:10267 CAID:CA255155 FVIIItesting:Partial Gene:F8 Mutation:Nonsense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    oce-ovid-com.libproxy.lib.unc.edu/article/00001721-200804000-00003/HTML
  59. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    actabp.pl/pdf/3_1999/721.pdf
  60. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Characterization of missense mutations in the signal peptide and propeptide of FIX in hemophilia B by a cell-based assay
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7422117/
  61. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1046/j.1365-2141.2001.02671.x
  62. haematologica.org haematologica.org
    Molecular genotyping of the Italian cohort of patients with hemophilia B
    3
    2. ClingenBaseline 23 Oct 2026
      identify the causative mutation

      Case#: Belvini_Proband_13 (male, Italian)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: Absent

      CAID: CA414435430

      gnomAD: Absent/Not Reported

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

      Case#: Belvini_Proband_16 (Italian)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: Absent

      CAID: CA414435574

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414435574 ParentalTest:Unknown FIXTesting:None DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    haematologica.org/article/view/3523
  63. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity
    1
    1. ClingenBaseline 23 Oct 2026
      The final list of mutations is provided in Supplementary Table S1.

      Case#: N/A

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: N/A

      CaseHPOsFreeText: N/A

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

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

      ClinVar: Absent

      CAID: CA414434403

      gnomAD: Absent/NotReported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414434403 DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6606640/
  64. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7667291/
  65. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    illiad.lib.unc.edu/NOH/illiad.dll
  66. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular basis of hemophilia B: a defective enzyme due to an unprocessed propeptide is caused by a point mutation in the factor IX precursor.
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC386383/
  67. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Usefulness of an in vitro cellular expression model for haemophilia A carrier diagnosis: illustration with five novel mutations in the F8 gene in women with isolated factor VIII:C deficiency
    2
    1. ClingenBaseline 23 Oct 2026
      Both p.Leu107His substitution (patient P1)

      Case#: P1 (female)

      DiseaseAssertion: Carrier

      FamilyInfo: N/A

      ParentalTesting: N/A

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

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

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

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

      Gene: F8

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

      CAID: CA414920017

      gnomAD: Absent/Not Reported

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

      Case Info: P6 (female)

      DiseaseAssertion: Carrier

      FamilyInfo: N/A

      ParentalTesting: N/A

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

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

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

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

      Gene: F8

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

      CAID: CA414904631

      gnomAD: Absent/Not Reported

      Gene:F8 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorVIIIDeficiency Mutation:Missense CAID:CA414904631 Zygosity:Heterozygous ParentalTest:Unknown inferred_gene_hgnc:3546 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/hae.12651
  68. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5111390/
  69. www.sciencedirect.com www.sciencedirect.com
    Factor VIII: Long-established role in haemophilia A and emerging evidence beyond haemostasis
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S0268960X18301292
  70. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2010.02365.x
  71. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/9600455/
  72. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2011.02700.x
  73. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Hemophilia B carrier determination based on family-specific mutation detection by DNA single-strand conformation analysis
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/8320491/
  74. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular characterization of factor IX gene mutations in 53 patients with haemophilia B in India
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/16270648/