44 Matching Annotations
  1. Oct 2026
  2. 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
    25
    1. ClingenBaseline 25 Oct 2026
      Table 2

      Case#: Cz35, 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 FVIIItesting:Partial ParentalTest:Unknown CAID:CA873354114 ClinVarID:811357 Zygosity:NoZygosityAssertion Mutation:Intronic CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 25 Oct 2026
      Table 1

      Case#: Cz32, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C <1%

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

      Gene: F8

      Variant: F8, IVS22 INV

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

      CAID: NA

      gnomAD: Not reported

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

      Case#: Cz22, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C <1%

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

      Gene: F8

      Variant: NM_000132.3(F8):c.1336C>T (p.Arg446Ter)

      ClinVar: 10145 https://www.ncbi.nlm.nih.gov/clinvar/variation/10145/

      CAID: CA255038

      gnomAD: Not reported

      CaseInfo HGNC:3546 InheritancePattern:Xlinked DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion FVIIItesting:Partial ParentalTest:Unknown ClinVarID:10145 CAID:CA255038 Gene:F8 Mutation:Nonsense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 24 Oct 2026
      Table 2

      Case#: Cz19, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C 3%

      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 ClinVarID:811357 DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown Mutation:Intronic FVIIItesting:Partial InheritancePattern:Xlinked HGNC:3546 CaseInfo Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 24 Oct 2026
      Table 2

      Case#: Cz2, 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 ParentalTest:Unknown DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion CAID:CA873354114 ClinVarID:811357 FVIIItesting:Partial Mutation:Intronic CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    6. ClingenBaseline 24 Oct 2026
      Table 2

      Case#: Cz34, 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 Mutation:Intronic ParentalTest:Unknown FVIIItesting:Partial Zygosity:NoZygosityAssertion CAID:CA873354114 ClinVarID:811357 CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    7. ClingenBaseline 24 Oct 2026
      Table 1

      Case#: Cz21, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C <1%

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

      Gene: F8

      Variant: F8, IVS22 INV

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

      CAID: NA

      gnomAD: Not reported

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

      Case#: Cz14, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C <1%

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

      Gene: F8

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

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

      CAID: CA255191

      gnomAD: Not reported

      InheritancePattern:Xlinked CaseInfo HGNC:3546 DiseaseEntity:FactorIXDeficiency ParentalTest:Unknown FVIIItesting:Partial Zygosity:NoZygosityAssertion ClinVarID:10300 CAID:CA255191 Gene:F8 Mutation:Nonsense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    9. 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
    10. 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
    11. 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
    12. ClingenBaseline 22 Oct 2026
      Table 2

      Case#: Cz1, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C 4%

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

      Gene: F8

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

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

      CAID: CA873354114

      gnomAD: Not reported

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

      Case#: Cz33, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C 8%

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

      Case#: Cz31, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C <1%

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

      Gene: F8

      Variant: NM_000132.3:c.1324T>C (p.Tyr442His)

      ClinVar: NA

      CAID: CA414915029

      gnomAD: Not reported

      InheritancePattern:Xlinked DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion FVIIItesting:Partial ParentalTest:Unknown CAID:CA414915029 CaseInfo HGNC:3546 Gene:F8 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    15. ClingenBaseline 22 Oct 2026
      Table 2

      Case#: Cz11, 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
    16. ClingenBaseline 22 Oct 2026
      Table 1

      Case#: Cz37, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C <1%

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

      Gene: F8

      Variant: NM_000132.3:c.4379dup (p.Asn1460LysfsTer2)

      ClinVar: NA

      CAID: CA645292749

      gnomAD: MAF for p.Asn1460LysfsTer2 in the European (non-Finnish) population 0.00001245<br>https://gnomad.broadinstitute.org/variant/X-154157685-A-AT

      CaseInfo HGNC:3546 InheritancePattern:Xlinked ParentalTest:Unknown FVIIItesting:Partial DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion Gene:F8 CAID:CA645292749 Mutation:Frameshift inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    17. ClingenBaseline 21 Oct 2026
      Table 2

      Case#: Cz39, 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 FVIIItesting:Partial ParentalTest:Unknown DiseaseEntity:FactorVIIIDeficiency CAID:CA873354114 Mutation:Intronic ClinVarID:811357 Zygosity:NoZygosityAssertion CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    18. ClingenBaseline 21 Oct 2026
      Table 2

      Case#: Cz15, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C 2.4%

      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 Zygosity:NoZygosityAssertion ParentalTest:Unknown CAID:CA873354114 ClinVarID:811357 Mutation:Intronic FVIIItesting:Partial InheritancePattern:Xlinked CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    19. ClingenBaseline 21 Oct 2026
      Table 1

      Case#: Cz8, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C <1%

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

      Gene: F8

      Variant: F8, IVS22 INV

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

      CAID: NA

      gnomAD: Not reported

      CaseInfo HGNC:3546 InheritancePattern:Xlinked Mutation:Intronic DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown FVIIItesting:Partial ClinVarID:10150 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    20. ClingenBaseline 21 Oct 2026
      Table 1

      Case#: Cz17, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C <1%

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

      Gene: F8

      Variant: NM_000132.3:c.3224del (p.Ala1075ValfsTer4)

      ClinVar: NA

      CAID: NA

      gnomAD: Not reported

      UnregisteredVariant CaseInfo HGNC:3546 FVIIItesting:Partial ParentalTest:Unknown InheritancePattern:Xlinked DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion Gene:F8 Mutation:Frameshift inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    21. ClingenBaseline 21 Oct 2026
      Table 2

      Case#: Cz4, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C 2.4%

      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 FVIIItesting:Partial DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion CAID:CA873354114 ClinVarID:811357 ParentalTest:Unknown Mutation:Intronic HGNC:3546 CaseInfo Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    22. ClingenBaseline 21 Oct 2026
      Table 1

      Case#: Cz38, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C <1%

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

      Gene: F8

      Variant: F8, IVS22 INV

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

      CAID: NA

      gnomAD: Not reported

      CaseInfo HGNC:3546 FVIIItesting:Partial ParentalTest:Unknown ClinVarID:10150 DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion Mutation:Intronic InheritancePattern:Xlinked Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    23. ClingenBaseline 21 Oct 2026
      Table 2

      Case#: Cz10, 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 Zygosity:NoZygosityAssertion DiseaseEntity:FactorVIIIDeficiency ParentalTest:Unknown FVIIItesting:Partial 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
    24. ClingenBaseline 21 Oct 2026
      Table 1

      Case#: Cz16, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C <1%

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

      Gene: F8

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

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

      CAID: CA255191

      gnomAD: Not reported

      CaseInfo HGNC:3546 InheritancePattern:Xlinked Zygosity:NoZygosityAssertion DiseaseEntity:FactorVIIIDeficiency ParentalTest:Unknown FVIIItesting:Partial CAID:CA255191 ClinVarID:10300 Gene:F8 Mutation:Nonsense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    25. ClingenBaseline 21 Oct 2026
      Table 2

      Case#: Cz27, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Inherited

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C 3.5%

      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

      InheritancePattern:Xlinked DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown FVIIItesting:Partial 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
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    oce-ovid-com.libproxy.lib.unc.edu/article/00001721-200804000-00003/HTML
  3. journals.lww.com journals.lww.com
    Molecular genetics and transfusion management in a child... : Blood Coagulation & Fibrinolysis
    1
    1. ClingenBaseline 25 Oct 2026
      The proband, 12-year-old boy with moderate bleeding history, had manifest prolonged activated partial thromboplastin time (98.1 s) and markedly decreased FIX activity (1%).

      Case#: 12 year old male

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: Uncle had mild Hemophilia B

      ParentalTesting: No

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C = 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F9

      Variant:

      LegacyVariant:

      ClinVar:

      CAID:

      gnomAD:

      CaseInfo Gene:F9 HGNC:3551 InheritancePattern:Xlinked DiseaseSeverity:ModerateHemophiliaB Zygosity:Hemizygous PreviousTesting:None FIXtesting:Full ParentalTest:Unknown FamilyInfo DiseaseEntity:FactorIXDeficiency inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    journals.lww.com/bloodcoagulation/fulltext/2020/03000/a_novel_missense_mutation_in_f9_gene_causes.2.aspx
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identification and Genetic Analysis of a Factor IX Gene Intron 3 Mutation in a Hemophilia B Pedigree in China
    1
    1. ClingenBaseline 25 Oct 2026
      6 months of age, the proband (male, born on 20 February 2008)

      Case2: 6-month-old Male, China

      DiseaseAssertion: Hemophilia B (Factor IX-deficient)

      FamilyInfo: Mother and maternal grandmother are HB carriers due to a novel mutation in intron 3. Pedigree shown in Figure 1.

      ParentalTesting: The F9 exons were amplified (RT-PCR) and exons 1 to 8 of the F9 gene were analyzed with the ABI 3130 Genetic Analyzer, Sequenced intron 3 of the F9 gene

      CasePresentingHPOs: HP:0011858 (Reduced factor IX activity)

      CaseHPOFreeRext: FIX:C 1%, Pelioma, Cyanotic bumps, Subcutaneous bleeding, knee swelling from crawling

      CasePreviousTesting: Prenatal testing at 20 weeks

      Gene: F9

      Variant: NM_000133.3(F9):c.278-3A>G

      ClinVar: 92225 https://www.ncbi.nlm.nih.gov/clinvar/variation/92225/#id_first

      CAID: CA285284

      gnomAD: Not Reported

      CaseInfo Gene:F9 HGNC:3551 DiseaseEntity:FactorIXDeficiency InheritancePattern:Xlinked Mutation:Intronic FIXtesting:Partial Zygosity:NoZygosityAssertion FamilyInfo ParentalTest:Both ClinVarID:92225 CAID:CA285284 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC4287022/
  5. 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 24 Oct 2026
      Today, the Danish family consists of 275 known persons, all of whom are the offspring of six original proband siblings born in the middle of the nineteenth century ( Fig 1); at present, 28 living cases of mild haemophilia are known in the family. A cousin-to-cousin marriage of an affected male haemophiliac and an obligate carrier resulted in four sisters homozygous for the haemophilic mutation.

      Case#: 8, male

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: Proband's mother and sister are confirmed carriers of hemophilia

      ParentalTesting: Mother was tested and found to be a carrier of hemophilia

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%, FVIII:Ag = 25%, assay discrepancy present (OSA>CSA)

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: For exons 1–13 and 15–26, PCR primers were designed for denaturing gradient gel electrophoresis (DGGE) and exon 14 was amplified in four overlapping fragments and subsequently sequenced. VWF:Ag was tested and found to be within normal ranges.

      Gene: F8

      Variant: NM_000132.3:c.694A>T

      LegacyVariant:

      ClinVar: No

      CAID: CA414919124

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA>CSA Mutation:Missense InheritancePattern:Xlinked Zygosity:NoZygosityAssertion PreviousTesting:Additional FVIIItesting:Full ParentalTest:Mother FamilyInfo CAID:CA414919124 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1046/j.1365-2141.2000.02021.x
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    An intronic mutation c.6430-3C>G in the F8 gene causes splicing efficiency and premature termination in hemophilia A
    1
    1. ClingenBaseline 24 Oct 2026
      young boy diagnosed with moderate hemophilia A

      Case #: young male, China

      DiseaseAssertion: Hemophilia A, moderate (FVIII:C 2.6%)

      FamilyInfo: Grandfather had Hemophilia A, making his mother an obligate carrier

      ParentalTesting: Mother was tested and confirmed to be a carrier using Sanger and cDNA sequencing

      CasePresentingHPO: HP:0011890 (prolonged bleeding following procedure), HP:0040232 (delayed onset bleeding), HP:0001058 (poor wound healing)

      CaseHPOFreeText: 1% < FVIII:C < 5%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: Entire VIII coding region and exon-intron boundaries were sequenced and amplified. A pSPL3 in-vivo assay showed a two-nucleotide inclusion at the 3' splice site of intron 22, which was confirmed using Sanger sequencing.

      Gene: F8

      Variant: NM_000132.3:c.6430-3C>G

      ClinVar: No

      CAID: CA873369662

      gnomAD:

      InheritancePattern:Xlinked DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Mutation:Intronic inferred_gene_hgnc:3546 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC5965921/
  7. 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
    11
    1. ClingenBaseline 24 Oct 2026
      C.6317A>C

      Case#: 27

      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.6317A>C (p.Gln2087Pro)

      ClinVar: NA

      CAID: CA414900070

      gnomAD: Not reported

      CAID:CA414900070 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 24 Oct 2026
      c.3093delAAGA

      Case#: 4

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Positive

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Severe, Inhibitors present

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

      Gene: F8

      Variant: NM_000132.3(F8):c.3091_3094del (p.Lys1031fs)

      ClinVar: 369689 https://www.ncbi.nlm.nih.gov/clinvar/variation/369689/

      CAID: CA645509240

      gnomAD: Not reported

      DiseaseEntity:FactorVIIIDeficiency ParentalTest:Unknown InheritancePattern:Xlinked HGNC:3546 CaseInfo ClinVarID:369689 CAID:CA645509240 Zygosity:NoZygosityAssertion Gene:F8 Mutation:Frameshift inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 24 Oct 2026
      C.6301C>G

      Case#: 26

      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(F8):c.6301C>G (p.His2101Asp)

      ClinVar: 804137 https://www.ncbi.nlm.nih.gov/clinvar/variation/804137/

      CAID: CA414900220

      gnomAD: Not reported

      CAID:CA414900220 ClinVarID:804137 Zygosity:NoZygosityAssertion ParentalTest:Unknown InheritancePattern:Xlinked DiseaseEntity:FactorVIIIDeficiency CaseInfo HGNC:3546 Mutation:Missense Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 24 Oct 2026
      c.2766delC

      Case#: 3

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Positive

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Moderate

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

      Gene: F8

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

      ClinVar: NA

      CAID: CA923726358

      gnomAD: Not reported

      DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown CAID:CA923726358 InheritancePattern:Xlinked CaseInfo HGNC:3546 Gene:F8 Mutation:Frameshift inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    5. 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
    6. 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
    7. 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
    8. 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
    9. ClingenBaseline 23 Oct 2026
      c.5159C>T

      Case#: 24

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Positive

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Mild

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

      Gene: F8

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

      ClinVar: NA

      CAID: CA414913679

      gnomAD: Not reported

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

      Case#: 12

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Positive

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Mild

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

      Gene: F8

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

      ClinVar: NA

      CAID: CA10568618

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

      CAID:CA10568618 DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown InheritancePattern:Xlinked CaseInfo HGNC:3546 Mutation:Missense Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    11. ClingenBaseline 21 Oct 2026
      c.1180G>T

      Case#: 18, Spanish

      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.1180G>T (p.Ala375Ser)

      ClinVar: NA

      CAID: CA414916327

      gnomAD: Not reported

      CAID:CA414916327 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
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    ncbi.nlm.nih.gov/pmc/articles/PMC2275016/
  8. 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
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    ncbi.nlm.nih.gov/pmc/articles/PMC6069878/
  9. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    blt-16-392.pdf
    1
    1. ClingenBaseline 22 Oct 2026
      37-year old woman

      Case1: Female patient, 37-year-old, At age 25(pregnant) an F8 mutation was identified, Family History of Severe HA

      DiseaseAssertion: Mild hemophilia A due to a family mutation and de novo mutation

      FamilyInfo: Family also has the large deletion of exon 1 to 22 of the F8 gene, Son (age 10) has mild Hemophilia A

      ParentalTesting: Father tested negative for any F8 mutations, Mother is an asymptomatic carrier of the familial large deletion

      CasePresentingHPOs: HP:0000978 (Bruising Susceptibility), HP:0000132 (Menorrhagia)

      CaseHPOFreeText: FVIII:C 7%, compounded heterozygous for the large gene deletion and c.1569G>T mild mutation

      CasePreviousTesting: Molecular analysis, Sequenced the whole coding region of the F8 gene

      Gene: F8

      Variant: 1. F8, EX1-22DEL 2. NM_000132.3:c.1569G>T (p.Leu523=)

      ClinVar: 1. 10122 https://www.ncbi.nlm.nih.gov/clinvar/variation/10122/

      1. 439678 https://www.ncbi.nlm.nih.gov/clinvar/variation/439678/

      gnomAD: 1. Not reported (F8, EX1-22DEL)

      1. MAF for Leu523= in Latino population 0.00007293 <br /> https://gnomad.broadinstitute.org/variant/X-154185415-C-A?dataset=gnomad_r2_1
      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency InheritancePattern:Xlinked InheritancePattern:DeNovoAssertion Mutation:Large Zygosity:CompoundHeterozygous ClinVarID:10122 ClinVarID:439678 FVIIItesting:Partial ParentalTest:Both ParentalConfirmation:Paternity Mutation:Synonymous inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC6034774/
  10. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Analysis of 18 novel mutations in the factor VIII gene
    1
    1. ClingenBaseline 21 Oct 2026
      IG1

      Case#: IG1, Italy

      DiseaseAssertion: Hemophilia A, severe (Table 1)

      FamilyInfo: Table 1 - female relative(s) tested

      ParentalTesting: No

      CasePresentingHPOs: HP:0003125

      (Reduced factor VIII activity)

      CaseHPOFreeText: FVIII:C <1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: Entire FVIII coding region, flanking splicing sites and promoter sequence were amplified. Mutational analyses included DHPLC followed by sequencing.

      Gene: F8

      Variant: NM_000132.3:c.98G>A p.(Trp33Ter)

      LegacyVariant: c.207G>A p.(Trp14Ter) [based on Antonarakis, 1998; PMID: 9450896]

      ClinVar: No

      CAID: CA414920533

      gnomAD: Not reported

      Gene:F8 CaseInfo InheritancePattern:Xlinked DiseaseEntity:FactorVIIIDeficiency Mutation:Nonsense Zygosity:NoZygosityAssertion CAID:CA414920533 FVIIItesting:Partial ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3546 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    onlinelibrary.wiley.com/doi/full/10.1046/j.1365-2141.2003.04494.x
  11. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genetic analysis of a hemophilia B family with a novel F9 gene mutation: A STROBE-compliant article
    1
    1. ClingenBaseline 21 Oct 2026
      3-year-old boy

      Case1: 3-year-old boy

      DiseaseAssertion: Severe Hemophilia B

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

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

      CasePresentingHPOs: NA

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

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

      Gene: F9

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

      ClinVar: NA

      CAID: CA414446686

      gnomAD: NA

      CaseInfo FamilyInfo Gene:F9 HGNC:3551 DiseaseEntity:FactorIXDeficiency InheritancePattern:Xlinked Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414446686 FIXtesting:Partial ParentalTest:Both ParentalConfirmation:Maternity inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC6571360/