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  1. Last 7 days
  2. 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
    9
    1. ClingenBaseline 22 Oct 2026
      c.5954G>A

      Case#: 24

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 23/18%, Mild Phenotype, No inhibitors present

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

      Gene: F8

      Variant: NM_000132.3(F8):c.5954G>A (p.Arg1985Gln)

      ClinVar: 618098 https://www.ncbi.nlm.nih.gov/clinvar/variation/618098/

      CAID: CA414905715

      gnomAD: MAF for Arg1985Gln in the European (non-Finnish) population 0.00001224<br> https://gnomad.broadinstitute.org/variant/X-154132225-C-T?dataset=gnomad_r2_1

      InheritancePattern:NoInheritanceAssertion Mutation:Missense CAID:CA414905715 DiseaseEntity:FactorVIIIDeficiency FVIIItesting:Partial ParentalTest:Unknown Zygosity:NoZygosityAssertion ClinVarID:618098 HGNC:3546 CaseInfo Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 22 Oct 2026
      c.1336C>T

      Case#: 11

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

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

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

      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

      InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion Mutation:Nonsense CAID:CA255038 FVIIItesting:Partial ParentalTest:Unknown DiseaseEntity:FactorVIIIDeficiency ClinVarID:10145 CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 21 Oct 2026
      c.5953C>T

      Case#: 23

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

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

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

      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:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency FVIIItesting:Partial Mutation:Nonsense ClinVarID:10300 CAID:CA255191 ParentalTest:Unknown Zygosity:NoZygosityAssertion CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 21 Oct 2026
      c.6977G>A

      Case#: 37

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 36%, 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.6977G>A (p.Arg2326Gln)

      ClinVar: 10126 https://www.ncbi.nlm.nih.gov/clinvar/variation/10126/

      CAID: CA255027

      gnomAD: Not reported

      InheritancePattern:NoInheritanceAssertion Mutation:Missense CAID:CA255027 ClinVarID:10126 DiseaseEntity:FactorVIIIDeficiency FVIIItesting:Partial ParentalTest:Unknown Zygosity:NoZygosityAssertion HGNC:3546 CaseInfo Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 21 Oct 2026
      c.197A>T

      Case#: 1

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 21% (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.197A>T (p.Lys66Ile)

      ClinVar: NA

      CAID: CA414920295

      gnomAD: Not reported

      InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414920295 FVIIItesting:Partial ParentalTest:Unknown CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    6. ClingenBaseline 21 Oct 2026
      c.5213delG

      Case#: 21

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

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

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

      Gene: F8

      Variant: NM_000132.3:c.5213del

      ClinVar: NA

      CAID: CA1139532038

      gnomAD: Not reported

      InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion FVIIItesting:Partial ParentalTest:Unknown DiseaseEntity:FactorVIIIDeficiency Mutation:Frameshift CaseInfo HGNC:3546 CAID:CA1139532038 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    7. ClingenBaseline 21 Oct 2026
      c.541G>A

      Case#: 4

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

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

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

      Gene: F8

      Variant: NM_000132.3(F8):c.541G>A (p.Val181Met)

      ClinVar: 10177 https://www.ncbi.nlm.nih.gov/clinvar/variation/10177/

      CAID: CA255066

      gnomAD: Not reported

      InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA255066 FVIIItesting:Partial ParentalTest:Unknown ClinVarID:10177 CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    8. ClingenBaseline 21 Oct 2026
      c.5374–19delT

      Case#: 22, Female HA carrier

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 60%, 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.5374-19del

      ClinVar: 439679 https://www.ncbi.nlm.nih.gov/clinvar/variation/439679/

      CAID: CA10567985

      gnomAD: MAF in the South Asian population 0.3867<br>https://gnomad.broadinstitute.org/variant/X-154133316-CA-C

      CAID:CA10567985 InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown ClinvarID:439679 FVIIItesting:Partial CaseInfo HGNC:3546 Mutation:Intronic Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    9. ClingenBaseline 21 Oct 2026
      c.4692delC

      Case#: 19

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

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

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

      Gene: F8

      Variant: NM_000132.3:c.4692del (p.Leu1566Ter)

      ClinVar: NA

      CAID: CA1139532037

      gnomAD: NA

      InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown FVIIItesting:Partial CaseInfo HGNC:3546 CAID:CA1139532037 Mutation:Nonsense Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    www-thieme-connect-com.libproxy.lib.unc.edu/products/ejournals/pdf/10.1160/TH16-05-0375.pdf
  3. www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu
    Untitled document
    28
    1. ClingenBaseline 22 Oct 2026
      038–2012

      Case#: 038-2012

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

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

      LegacyVariant:

      ClinVar: No

      CAID: CA255129

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255129 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 22 Oct 2026
      002–2010

      Case#: 002-2010

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

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

      LegacyVariant:

      ClinVar: No

      CAID: CA414917990

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414917990 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 22 Oct 2026
      035–2005

      Case#: 035-2005

      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.1175C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255095

      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:CA255095 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 22 Oct 2026
      068–2003

      Case#: 068-2003

      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
    5. ClingenBaseline 22 Oct 2026
      004–2013

      Case#: 004-2013

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.6046C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255197

      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:CA255197 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    6. ClingenBaseline 21 Oct 2026
      022–2007

      Case#: 022-2007

      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.73_75delTAC

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA 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
    7. ClingenBaseline 21 Oct 2026
      015–2008

      Case#: 015-2008

      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.dupexons7_22

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large ToCheck FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    8. ClingenBaseline 21 Oct 2026
      001–2052

      Case#: 001-2052

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.1988C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255135

      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:CA255135 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    9. ClingenBaseline 21 Oct 2026
      001–2022

      Case#: 001-2022

      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.947_949insA

      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
    10. ClingenBaseline 21 Oct 2026
      060–2008

      Case#: 060-2008

      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.1618C>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414911950

      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:CA414911950 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    11. ClingenBaseline 21 Oct 2026
      020–2015

      Case#: 020-2015

      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.5612T>G

      LegacyVariant:

      ClinVar: No

      CAID: CA414908197

      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:CA414908197 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    12. ClingenBaseline 21 Oct 2026
      004–2025

      Case#: 004-2025

      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.328A>G

      LegacyVariant:

      ClinVar: No

      CAID: CA255057

      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:CA255057 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    13. ClingenBaseline 21 Oct 2026
      001–2049

      Case#: 001-2049

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

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

      LegacyVariant:

      ClinVar: No

      CAID: CA414917990

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414917990 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    14. ClingenBaseline 21 Oct 2026
      004–2007

      Case#: 004-2007

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.3637delA

      LegacyVariant:

      ClinVar: No

      CAID: CA255146

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    15. ClingenBaseline 21 Oct 2026
      045–2002

      Case#: 045-2002

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 1% < FVIII:C < 5%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.3637delA

      LegacyVariant:

      ClinVar: No

      CAID: CA255146

      gnomAD:

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

      Case#: 003-2012

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

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

      LegacyVariant:

      ClinVar: No

      CAID: CA414917621

      gnomAD:

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

      Case#: 003-2017

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.4379dupA

      LegacyVariant:

      ClinVar: No

      CAID: CA645292749

      gnomAD:

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

      Case#: 020-2052

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

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

      LegacyVariant:

      ClinVar: No

      CAID: CA255082

      gnomAD:

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

      Case#: 003-2007

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 1% < FVIII:C < 5%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

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

      LegacyVariant:

      ClinVar: No

      CAID: CA337334224

      gnomAD:

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

      Case#: 087-2003

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

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

      LegacyVariant:

      ClinVar: No

      CAID: CA120919

      gnomAD:

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

      Case#: 038-2016

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.3531_3533delA

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    22. ClingenBaseline 21 Oct 2026
      020–2045

      Case#: 020-2045

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

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

      LegacyVariant:

      ClinVar: No

      CAID: CA414919676

      gnomAD:

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

      Case#: 084-2006

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

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

      LegacyVariant:

      ClinVar: No

      CAID: CA414909849

      gnomAD:

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

      Case#: 001-2045

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

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

      LegacyVariant:

      ClinVar: No

      CAID: CA414912862

      gnomAD:

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

      Case#: 071-2032

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.308_319delGTGGTCATTACA

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

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

      Case#: 001-2028

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.4379dupA

      LegacyVariant:

      ClinVar: No

      CAID: CA645292749

      gnomAD:

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

      Case#: 038-2020

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.3637delA

      LegacyVariant:

      ClinVar: No

      CAID: CA255146

      gnomAD:

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

      Case#: 035-2017

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: 5% < FVIII:C < 40%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

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

      LegacyVariant:

      ClinVar: No

      CAID: CA255129

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255129 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    www-thieme-connect-de.libproxy.lib.unc.edu/media/10.1055-s-00035024/202105/supmat/10-1055-s-0040-1721385-s200426.pdf
  4. 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
    10
    1. ClingenBaseline 22 Oct 2026
      Table 2

      Case#: Cz23, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Sporadic

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C 4%

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

      Gene: F8

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

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

      CAID: CA873354114

      gnomAD: Not reported

      InheritancePattern:DeNovoAssertion DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion 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
    2. 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
    3. 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
    4. 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
    5. 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
    6. 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
    7. 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
    8. 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
    9. 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
    10. 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
  5. 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
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutation detection and inhibitor risk in Iranian patients with Hemophilia A: Six novel mutations
    5
    1. ClingenBaseline 21 Oct 2026
      S25

      Case#: S25, Iranian

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: Family history of HA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Mucosal bleeding

      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.3870dupA

      LegacyVariant:

      ClinVar: No

      CAID: CA645616770

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Frameshift CAID:CA645616770 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 21 Oct 2026
      S7

      Case#: S7, Iranian

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Mucosal bleeding, 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: NM_000132.3:c.1444‐1G>T

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Splice UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 21 Oct 2026
      S4

      Case#: S4, 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: 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
    4. ClingenBaseline 21 Oct 2026
      S11

      Case#: S11, Iranian

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Mucosal bleeding

      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 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 21 Oct 2026
      S14

      Case#: S14, Iranian

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125, HP:0005261

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

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

      Gene: F8

      Variant: NM_000132.3:c.575T>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414919417

      gnomAD:

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

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