Hypothesis

222 Matching Annotations

Oct 2026
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Mutation detection and inhibitor risk in Iranian patients with Hemophilia A: Six novel mutations

29
1. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  S18
  
  Case#: S18, 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 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
2. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  S28
  
  Case#: S28, Iranian
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125, HP:0005261
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA, Testis bleeding
  
  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.del exon15
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Large UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
3. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  S10
  
  Case#: S10, 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: NM_000132.3:c.1931T>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414909677
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Missense CAID:CA414909677 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
4. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  S6
  
  Case#: S6, 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: NA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Intronic inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
5. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  S3
  
  Case#: S3, Iranian
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125, HP:0005261
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
  
  Gene: F8
  
  Variant: NM_000132.3:c.95delC
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Frameshift UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
6. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  S13
  
  Case#: S13, Iranian
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Family history of HA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125, HP:0005261
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
  
  Gene: F8
  
  Variant: NA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Intronic inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
7. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  S30
  
  Case#: S30, Iranian
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 5% < FVIII:C < 30%
  
  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.2090T>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414909005
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Missense CAID:CA414909005 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
8. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  S17
  
  Case#: S17, 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: NM_000132.3:c.1063C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255031
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Nonsense CAID:CA255031 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
9. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  S1
  
  Case#: S1, 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.209_212del
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255050
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Frameshift CAID:CA255050 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
10. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  S22
  
  Case#: S22, 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 AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Intronic Inhibitor:Absent inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
11. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  S9
  
  Case#: S9, 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.2945dupA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255142
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Frameshift CAID:CA255142 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
12. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  S2
  
  Case#: S2, Iranian
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125, HP:0005261
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
  
  Gene: F8
  
  Variant: NA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Intronic inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
13. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  S21
  
  Case#: S21, Iranian
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Family history of HA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125, HP:0005261
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
  
  Gene: F8
  
  Variant: NM_000132.3:c.6213A>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414903164
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Missense CAID:CA414903164 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
14. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  S24
  
  Case#: S24, 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.5509A>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414908661
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Nonsense CAID:CA414908661 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
15. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  S27
  
  Case#: S27, Iranian
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125, HP:0005261
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Frameshift CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
16. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  S8
  
  Case#: S8, Iranian
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Family history of HA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125, HP:0005261
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
  
  Gene: F8
  
  Variant: NA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Intronic ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
17. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  S16
  
  Case#: S16, Iranian
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125, HP:0005261
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
  
  Gene: F8
  
  Variant: NA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Intronic inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
18. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  S20
  
  Case#: S20, 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.2013_2015del
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA873350278
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:InframeDel CAID:CA873350278 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
19. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  S29
  
  Case#: S29, Iranian
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 5% < FVIII:C < 30%
  
  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.2110C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA10568366
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Missense CAID:CA10568366 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
20. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  S26
  
  Case#: S26, 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: NM_000132.3:c.3943delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Frameshift UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
21. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  S23
  
  Case#: S23, Iranian
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125, HP:0005261
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
  
  Gene: F8
  
  Variant: NA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Intronic inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
22. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  S5
  
  Case#: S5, 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: NM_000132.3:c.1010‐2A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Splice UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
23. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  S15
  
  Case#: S15, Iranian
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Family history of HA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125, HP:0005261
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
  
  Gene: F8
  
  Variant: NA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Intronic inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
24. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  S12
  
  Case#: S12, Iranian
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Family history of HA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125, HP:0005261
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
  
  Gene: F8
  
  Variant: NM_000132.3:c.del exons8_9
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Large ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
25. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  S19
  
  Case#: S19, 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
26. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  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
27. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  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
28. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  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
29. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  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
Visit annotations in context

Tags

Inhibitor:Present

DiseaseEntity:FactorVIIIDeficiency

Mutation:Nonsense

CAID:CA414903164

inferred_gene_source:hgnc_tag

Mutation:Frameshift

Gene:F8

CAID:CA873350278

Mutation:InframeDel

CAID:CA414909005

CAID:CA255142

ClinGen Coag Fac Def VCEP

Mutation:Splice

HGNC:3546

DiseaseSeverity:SevereHemophiliaA

CaseInfo

ToCheck

CAID:CA255050

CAID:CA255146

inferred_gene_hgnc:3546

CAID:CA414908661

Mutation:Large

FVIIItesting:Partial

ParentalTest:Unknown

CAID:CA645616770

Mutation:Intronic

UnregisteredVariant

CAID:CA10568366

AssayDiscrepancy:NotReported

Inhibitor:Absent

Mutation:Missense

CAID:CA255031

CAID:CA414909677

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC7752620/
onlinelibrary.wiley.com onlinelibrary.wiley.com

hae14141-sup-0001-tables1.pdf

81
1. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  4
  
  Case#: 4, male, 7 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.741G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919022
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Nonsense Zygosity:Hemizygous FIXtesting:Partial ParentalConfirmation:Maternity CAID:CA414919022 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
2. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  125
  
  Case#: 125, male, 20 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.579_582dup
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
3. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  15
  
  Case#: 15, male, 11 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.2275A>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414902563
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense ParentalConfirmation:Maternity CAID:CA414902563 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
4. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  148
  
  Case#: 148, male, 8 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1282_1298delAGTCAATATTTGAACAA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
5. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  43
  
  Case#: 43, male, 22 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.902G>A
  
  LegacyVariant:
  
  ClinVar: 10192
  
  CAID: CA255079
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA255079 ClinVarID:10192 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
6. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  177
  
  Case#: 177, male, 41 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.del exons7_11
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large ParentalConfirmation:Maternity SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
7. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  47
  
  Case#: 47, male, 19 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1241A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414915839
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414915839 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
8. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  90
  
  Case#: 90, male, 12 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6406G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414899430
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414899430 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
9. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  172
  
  Case#: 172, male, 32 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.del exons1_25
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
10. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  163
  
  Case#: 163, male, 30 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.3931_3932delinsTTT
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
11. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  129
  
  Case#: 129, male, 20 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637dupA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA10568191
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA10568191 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
12. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  134
  
  Case#: 134, male, 6 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5152_5153insACACTAT
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
13. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  124
  
  Case#: 124, male, 17 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.14dupT
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
14. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  32
  
  Case#: 32, male, 18 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.362G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919924
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414919924 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
15. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  37
  
  Case#: 37, male, 53 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.397T>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919824
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414919824 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
16. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  25
  
  Case#: 25, male, 13 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6976C>T
  
  LegacyVariant:
  
  ClinVar: 10085
  
  CAID: CA255007
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense CAID:CA255007 ClinVarID:10085 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
17. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  109
  
  Case#: 109, male, 29 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6967C>T
  
  LegacyVariant:
  
  ClinVar: 10333
  
  CAID: CA255225
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA255225 ClinVarID:10333 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
18. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  11
  
  Case#: 11, male, 32 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1765A>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414911223
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense CAID:CA414911223 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
19. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  14
  
  Case#: 14, male, 10 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1990C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414909465
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense ParentalConfirmation:Maternity CAID:CA414909465 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
20. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  76
  
  Case#: 76, male, 30 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5551T>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414908519
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense SupplementalData CAID:CA414908519 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
21. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  8
  
  Case#: 8, male, 11 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1063C>T
  
  LegacyVariant:
  
  ClinVar: 10139
  
  CAID: CA255031
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial ParentalConfirmation:Maternity Mutation:Nonsense CAID:CA255031 ClinVarID:10139 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
22. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  181
  
  Case#: 181, male, 42 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.del exons14_26
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large ParentalConfirmation:Maternity SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
23. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  17
  
  Case#: 17, male, 10 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.2404C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414901774
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense ParentalConfirmation:Maternity CAID:CA414901774 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
24. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  140
  
  Case#: 140, male, 12 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.dup exons1_22
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large ParentalConfirmation:Maternity SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
25. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  153
  
  Case#: 153, male, 52 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.3409_3410delCT
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
26. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  176
  
  Case#: 176, male, 18 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.del exon6
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large ParentalConfirmation:Maternity SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
27. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  89
  
  Case#: 89, male, 36 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6406G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414899430
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414899430 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
28. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  162
  
  Case#: 162, male, 27 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
29. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  147
  
  Case#: 147, male, 22 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1126delG
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
30. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  180
  
  Case#: 180, male, 13 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.del exon14
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
31. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  167
  
  Case#: 167, male, 18 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5046delC
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
32. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  31
  
  Case#: 31, male, 41 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.361G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919926
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414919926 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
33. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  133
  
  Case#: 133, male, 59 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.4599_4600dup
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
34. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  171
  
  Case#: 171, male, 7 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.del exons1_14
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
35. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  21
  
  Case#: 21, male, 16 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6403C>T
  
  LegacyVariant:
  
  ClinVar: 10088
  
  CAID: CA255011
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense ParentalConfirmation:Maternity CAID:CA255011 ClinVarID:10088 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
36. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  117
  
  Case#: 117, male, 8 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5219+1G>A
  
  LegacyVariant:
  
  ClinVar: 993734
  
  CAID: CA414913420
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Splice ParentalConfirmation:Maternity SupplementalData CAID:CA414913420 ClinVarID:993734 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
37. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  123
  
  Case#: 123, male, 7 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6273+1G>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414902680
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Splice ParentalConfirmation:Maternity SupplementalData CAID:CA414902680 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
38. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  183
  
  Case#: 183, male, 38 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.del exons15_26
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large ParentalConfirmation:Maternity SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
39. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  164
  
  Case#: 164, male, 43 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.4339delG
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA873341376
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA873341376 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
40. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  166
  
  Case#: 166, male, 12 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.4379delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255151
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA255151 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
41. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  26
  
  Case#: 26, male, 13 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6976C>T
  
  LegacyVariant:
  
  ClinVar: 10085
  
  CAID: CA255007
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense ParentalConfirmation:Maternity CAID:CA255007 ClinVarID:10085 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
42. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  36
  
  Case#: 36, male, 10 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.387G>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919866
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414919866 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
43. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  139
  
  Case#: 139, male, 17 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.dup exons7_22
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
44. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  115
  
  Case#: 115, male, 37 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1271+1G>A
  
  LegacyVariant:
  
  ClinVar: 811704
  
  CAID: CA414915622
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Splice ParentalConfirmation:Maternity SupplementalData CAID:CA414915622 ClinVarID:811704 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
45. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  13
  
  Case#: 13, male, 24 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1861C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414910596
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense CAID:CA414910596 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
46. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  16
  
  Case#: 16, male, 22 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.2404C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414901774
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense ParentalConfirmation:Maternity CAID:CA414901774 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
47. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  34
  
  Case#: 34, male, 25 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.382T>C
  
  LegacyVariant:
  
  ClinVar: 811825
  
  CAID: CA414919878
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414919878 ClinVarID:811825 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
48. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  179
  
  Case#: 179, male, 11 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.del exon14
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large ParentalConfirmation:Maternity SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
49. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  146
  
  Case#: 146, male, 13 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.209_212delTTGT
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255050
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA255050 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
50. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  7
  
  Case#: 7, male, 8 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1063C>T
  
  LegacyVariant:
  
  ClinVar: 10139
  
  CAID: CA255031
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial ParentalConfirmation:Maternity Mutation:Nonsense CAID:CA255031 ClinVarID:10139 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
51. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  1
  
  Case#: 1, male, 30 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.36C>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414920668
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Nonsense Zygosity:Hemizygous ParentalConfirmation:Maternity CAID:CA414920668 SupplementalData FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
52. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  84
  
  Case#: 84, male, 48 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5821A>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414906679
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414906679 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
53. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  20
  
  Case#: 20, male, 36 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5953C>T
  
  LegacyVariant:
  
  ClinVar: 10300
  
  CAID: CA255191
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense ParentalConfirmation:Maternity CAID:CA255191 ClinVarID:10300 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
54. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  52
  
  Case#: 52, male, 13 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1809C>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414910951
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity DiseaseEntity:FactorVIIIDeficiency CAID:CA414910951 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
55. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  151
  
  Case#: 151, male, 17 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.2621delT
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
56. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  127
  
  Case#: 127, male, 17 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.2945dupA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255142
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift SupplementalData CAID:CA255142 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
57. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  6
  
  Case#: 6, male, 22 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1063C>T
  
  LegacyVariant:
  
  ClinVar: 10139
  
  CAID: CA255031
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense CAID:CA255031 ClinVarID:10139 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
58. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  111
  
  Case#: 111, male, 31 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.144-2A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414920419
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Splice ParentalConfirmation:Maternity SupplementalData CAID:CA414920419 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
59. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  39
  
  Case#: 39, male, 25 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.677G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919166
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414919166 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
60. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  174
  
  Case#: 174, male, 25 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.del exons1_26
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large ParentalConfirmation:Maternity SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
61. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  122
  
  Case#: 122, male, 33 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6115+1G>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414904456
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Splice ParentalConfirmation:Maternity SupplementalData CAID:CA414904456 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
62. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  170
  
  Case#: 170, male, 42 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6876_6877delCT
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA873368227
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA873368227 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
63. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  120
  
  Case#: 120, male, 51 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5220-2A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414911437
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Splice ParentalConfirmation:Maternity SupplementalData CAID:CA414911437 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
64. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  138
  
  Case#: 138, male, 9 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.dup exons23_25
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large ParentalConfirmation:Maternity SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
65. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  79
  
  Case#: 79, male, 8 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5594A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414908275
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414908275 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
66. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  2
  
  Case#: 2, male, 11 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.98G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414920533
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Nonsense Zygosity:Hemizygous FIXtesting:Partial CAID:CA414920533 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
67. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  182
  
  Case#: 182, male, 25 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.del exons15_26
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
68. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  12
  
  Case#: 12, male, 7 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1798G>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414911019
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense ParentalConfirmation:Maternity CAID:CA414911019 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
69. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  9
  
  Case#: 9, male, 19 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1285C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414915370
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense DiseaseEntity:FactorVIIIDeficiency CAID:CA414915370 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
70. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  5
  
  Case#: 5, male, 9 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.741G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919022
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial ParentalConfirmation:Maternity Mutation:Nonsense CAID:CA414919022 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
71. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  64
  
  Case#: 64, male, 6 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.2158G>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414903786
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414903786 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
72. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  99
  
  Case#: 99, male, 9 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6544C>T
  
  LegacyVariant:
  
  ClinVar: 10321
  
  CAID: CA255214
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense SupplementalData CAID:CA255214 ClinVarID:10321 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
73. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  106
  
  Case#: 106, male, 12 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6683G>A
  
  LegacyVariant:
  
  ClinVar: 10098
  
  CAID: CA255016
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA255016 ClinVarID:10098 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
74. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  83
  
  Case#: 83, male, 17 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5816C>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414906727
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity Inhibitor:Present SupplementalData CAID:CA414906727 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
75. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  68
  
  Case#: 68, male, 10 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.3780C>G
  
  LegacyVariant:
  
  ClinVar: 40999
  
  CAID: CA343865
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense SupplementalData CAID:CA343865 ClinVarID:40999 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
76. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  145
  
  Case#: 145, male, 35 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.205_206delCT
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA873358609
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA873358609 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
77. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  150
  
  Case#: 150, male, 32 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1786delT
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
78. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  178
  
  Case#: 178, male, 29 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.del exons8_9
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
79. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  156
  
  Case#: 156, male, 23 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
80. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  35
  
  Case#: 35, male, 19 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.385G>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919872
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414919872 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
81. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  28
  
  Case#: 28, male, 55 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.301G>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414920057
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414920057 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

ClinVarID:40999

DiseaseEntity:FactorVIIIDeficiency

Mutation:Nonsense

inferred_gene_source:hgnc_tag

CAID:CA255151

Mutation:Frameshift

CAID:CA873341376

CAID:CA414904456

CAID:CA414920419

CAID:CA414919878

CAID:CA10568191

ClinGen Coag Fac Def VCEP

CAID:CA414908275

CAID:CA414908519

ClinVarID:811704

CAID:CA414920668

Mutation:Splice

CAID:CA414919022

ClinVarID:10192

HGNC:3546

CAID:CA414919926

ToCheck

PreviousTesting:None

CAID:CA873358609

CAID:CA414919824

CAID:CA255191

ClinVarID:10300

CAID:CA414920057

Mutation:Large

ParentalTest:Unknown

ClinVarID:10333

CAID:CA414902563

UnregisteredVariant

CAID:CA414920533

CAID:CA414915370

CAID:CA414911019

AssayDiscrepancy:NotReported

ClinVarID:10098

CAID:CA414915622

Inhibitor:Absent

ClinVarID:993734

Mutation:Missense

CAID:CA255031

CAID:CA414902680

CAID:CA414919866

Inhibitor:Present

Zygosity:Hemizygous

CAID:CA255007

ClinVarID:10139

ClinVarID:10085

Gene:F8

CAID:CA343865

FIXtesting:Partial

CAID:CA255142

CAID:CA873368227

ClinVarID:811825

CAID:CA414919924

ParentalConfirmation:Maternity

CAID:CA414911437

CAID:CA255016

CAID:CA414903786

DiseaseSeverity:SevereHemophiliaA

CaseInfo

CAID:CA255214

SupplementalData

CAID:CA414909465

CAID:CA414911223

ClinVarID:10088

CAID:CA255050

CAID:CA414915839

CAID:CA255146

CAID:CA414910951

inferred_gene_hgnc:3546

CAID:CA414919166

CAID:CA255225

FVIIItesting:Partial

InheritancePattern:NoInheritanceAssertion

CAID:CA414899430

CAID:CA414906679

CAID:CA414910596

CAID:CA414901774

CAID:CA255011

ClinVarID:10321

CAID:CA414919872

CAID:CA255079

CAID:CA414913420

CAID:CA414906727

Annotators

ClingenBaseline

URL

onlinelibrary.wiley.com/action/downloadSupplement
www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu

Untitled document

89
1. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  091–2011
  
  Case#: 091-2011
  
  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.5393C>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414909064
  
  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:CA414909064 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
2. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  003–2002
  
  Case#: 003-2002
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255146 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
3. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  020–1003
  
  Case#: 020-1003
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
4. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  020–2021
  
  Case#: 020-2021
  
  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.1396T>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  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 UnregisteredVariant SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
5. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  071–2037
  
  Case#: 071-2037
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID:
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
6. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  022–2003
  
  Case#: 022-2003
  
  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.278C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414920106
  
  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:CA414920106 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
7. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  003–2025
  
  Case#: 003-2025
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID:
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
8. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  001–1010
  
  Case#: 001-1010
  
  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.3274_3276delAACinsCC
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FIXtesting:Partial SupplementalData UnregisteredVariant Mutation:InframeDelins ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
9. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  035–2016
  
  Case#: 035-2016
  
  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.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
10. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  005–1002
  
  Case#: 005-1002
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
11. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  084–2003
  
  Case#: 084-2003
  
  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.209_212delTTGT
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255050
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA255050 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
12. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  004–2019
  
  Case#: 004-2019
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255146 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
13. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  001–2026
  
  Case#: 001-2026
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.986G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255089
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255089 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
14. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  004–2003
  
  Case#: 004-2003
  
  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.5589delG
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial UnregisteredVariant SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
15. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  004–2015
  
  Case#: 004-2015
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.2152_2153delAA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData Inhibitor:NotReported UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
16. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  006–1001
  
  Case#: 006-1001
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
17. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  072–2009
  
  Case#: 072-2009
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.1332A>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414914974
  
  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:CA414914974 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
18. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  005–2001
  
  Case#: 005-2001
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.3277delAT
  
  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
19. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  003–2014
  
  Case#: 003-2014
  
  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:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID:
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
20. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  015–2002
  
  Case#: 015-2002
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.6876_6877delCT
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA873368227
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA873368227 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
21. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  071–2036
  
  Case#: 071-2036
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID:
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
22. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  038–1010
  
  Case#: 038-1010
  
  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:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
23. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  071–2001
  
  Case#: 071-2001
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.901C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414917990
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414917990 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
24. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  084–2001
  
  Case#: 084-2001
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.100delG
  
  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
25. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  001–2050
  
  Case#: 001-2050
  
  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.4011insA
  
  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
26. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  060–2004
  
  Case#: 060-2004
  
  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.272T>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414920117
  
  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:CA414920117 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
27. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  004–2012
  
  Case#: 004-2012
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255146 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
28. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  002–1002
  
  Case#: 002-1002
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
29. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  072–2007
  
  Case#: 072-2007
  
  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.5686_5687insA
  
  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
30. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  071–2035
  
  Case#: 071-2035
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID:
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
31. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  020–2020
  
  Case#: 020-2020
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
32. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  001–2025
  
  Case#: 001-2025
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.986G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255089
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255089 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
33. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  010–1002
  
  Case#: 010-1002
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
34. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  086–2006
  
  Case#: 086-2006
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.1537G>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414912560
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414912560 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
35. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  020–2013
  
  Case#: 020-2013
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.5368_5370delATC
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial UnregisteredVariant SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
36. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  009–1006
  
  Case#: 009-1006
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.822G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255072
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Nonsense FIXtesting:Partial SupplementalData CAID:CA255072 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
37. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  071–2015
  
  Case#: 071-2015
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.2710dupC
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
38. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  002–2005
  
  Case#: 002-2005
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.217T>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414920251
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414920251 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
39. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  044–2001
  
  Case#: 044-2001
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.6344delT
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial UnregisteredVariant SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
40. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  001–1038
  
  Case#: 001-1038
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.6065G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414904814
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Missense FIXtesting:Partial SupplementalData CAID:CA414904814 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
41. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  038–1013
  
  Case#: 038-1013
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
42. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  015–2005
  
  Case#: 015-2005
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
43. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  071–1015
  
  Case#: 071-1015
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
44. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  035–2003
  
  Case#: 035-2003
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.4825dupA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255152
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA255152 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
45. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  028–1002
  
  Case#: 028-1002
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
46. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  071–2029
  
  Case#: 071-2029
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.1697T>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414911721
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414911721 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
47. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  035–2007
  
  Case#: 035-2007
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.1963_1964insT
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
48. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  071–2010
  
  Case#: 071-2010
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.1208A>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414916134
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414916134 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
49. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  001–1060
  
  Case#: 001-1060
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.686C>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919141
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FIXtesting:Partial SupplementalData Mutation:Nonsense CAID:CA414919141 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
50. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  091–2009
  
  Case#: 091-2009
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.2681delG
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
51. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  001–2027
  
  Case#: 001-2027
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.1869_1870delG
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
52. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  015–2003
  
  Case#: 015-2003
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
53. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  020–2027
  
  Case#: 020-2027
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.5253A>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414911240
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414911240 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
54. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  042–1001
  
  Case#: 042-1001
  
  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.2144+2A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Splice FIXtesting:Partial SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
55. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  071–2003
  
  Case#: 071-2003
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.4825dupA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255152
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA255152 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
56. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  001–1026
  
  Case#: 001-1026,...
  
  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: NA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Intronic FVIIItesting:Partial InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
57. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  047–1004
  
  Case#: 047-1004
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
58. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  048–1002
  
  Case#: 048-1002
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
59. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  038–2002
  
  Case#: 038-2002
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.5687_5690delCT
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial UnregisteredVariant SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
60. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  016–2001
  
  Case#: 016-2001
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.901C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414917990
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414917990 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
61. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  003–2005
  
  Case#: 003-2005
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.5275delG
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial UnregisteredVariant SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
62. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  071–2007
  
  Case#: 071-2007
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.1208A>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414916134
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414916134 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
63. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  020–1011
  
  Case#: 020-1011
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
64. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  004–2017
  
  Case#: 004-2017
  
  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:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID:
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
65. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  038–2025
  
  Case#: 038-2025
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.514T>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919550
  
  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:CA414919550 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
66. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  016–2005
  
  Case#: 016-2005
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.3531_3533delA
  
  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
67. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  004–2008
  
  Case#: 004-2008
  
  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.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
68. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  035–1005
  
  Case#: 035-1005
  
  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.1271þ1G>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414915615
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Splice FIXtesting:Partial SupplementalData CAID:CA414915615 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
69. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  038–2011
  
  Case#: 038-2011
  
  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.5252A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414911251
  
  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:CA414911251 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
70. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  020–2057
  
  Case#: 020-2057
  
  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:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID:
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
71. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  035–2001
  
  Case#: 035-2001
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.1963_1964insT
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
72. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  071–2027
  
  Case#: 071-2027
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.4184_4186delGGAinsCCTC
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:InframeDelins InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial UnregisteredVariant SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
73. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  020–1016
  
  Case#: 020-1016
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
74. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  015–2006
  
  Case#: 015-2006
  
  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.343G>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919965
  
  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:CA414919965 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
75. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  060–2001
  
  Case#: 060-2001
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID:
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
76. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  010–1001
  
  Case#: 010-1001
  
  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.6742T>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414904758
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Missense FIXtesting:Partial SupplementalData CAID:CA414904758 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
77. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  038–2023
  
  Case#: 038-2023
  
  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.322_332þ8delGCTTCTGAGGGtgagtaaa
  
  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
78. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  002–2006
  
  Case#: 002-2006
  
  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.4379delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255151
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255151 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
79. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  003–2001
  
  Case#: 003-2001
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.493C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255065
  
  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:CA255065 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
80. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  048–1001
  
  Case#: 048-1001
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
81. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  047–1008
  
  Case#: 047-1008
  
  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.1336C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255038
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Nonsense FIXtesting:Partial SupplementalData CAID:CA255038 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
82. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  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
83. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  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
84. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  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
85. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  003–1002
  
  Case#: 003-1002
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.493C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255065
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FIXtesting:Partial SupplementalData CAID:CA255065 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
86. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  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
87. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  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
88. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  047–1007
  
  Case#: 047-1007
  
  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.1093T>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414916885
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Nonsense FIXtesting:Partial SupplementalData CAID:CA414916885 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
89. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  028–1001
  
  Case#: 028-1001
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

Inhibitor:Present

DiseaseEntity:FactorVIIIDeficiency

Mutation:Nonsense

CAID:CA414920106

inferred_gene_source:hgnc_tag

CAID:CA414904814

CAID:CA255151

CAID:CA414909064

CAID:CA414919965

CAID:CA414912560

CAID:CA414915615

Gene:F8

CAID:CA255065

FIXtesting:Partial

CAID:CA873368227

ClinGen Coag Fac Def VCEP

CAID:CA414911721

CAID:CA255089

Mutation:Splice

CAID:CA414919550

CAID:CA414914974

HGNC:3546

DiseaseSeverity:SevereHemophiliaA

CaseInfo

Inhibitor:NotReported

SupplementalData

PreviousTesting:None

ToCheck

CAID:CA414916134

CAID:CA255197

CAID:CA255050

CAID:CA255146

CAID:CA414920117

CAID:CA414904758

inferred_gene_hgnc:3546

CAID:CA414920251

CAID:CA645292749

Zygosity:NoZygosityAssertion

InheritancePattern:NoInheritanceAssertion

FVIIItesting:Partial

Mutation:Large

ParentalTest:Unknown

CAID:CA414911251

Mutation:Intronic

UnregisteredVariant

Mutation:InframeDelins

CAID:CA414911240

CAID:CA414919141

CAID:CA414911950

AssayDiscrepancy:NotReported

CAID:CA255038

CAID:CA414917990

CAID:CA255072

Inhibitor:Absent

CAID:CA255152

Mutation:Missense

CAID:CA414916885

Annotators

ClingenBaseline

URL

www-thieme-connect-de.libproxy.lib.unc.edu/media/10.1055-s-00035024/202105/supmat/10-1055-s-0040-1721385-s200426.pdf
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
  
  in Baseline Annotations
  
  A 68-year-old male was diagnosed with severe HEMA in early childhood
  
  Case#: 68 year old male
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Mother was a carrier and brother also suffered from severe Hemophilia A
  
  ParentalTesting: No
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 0.001%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: Whole exome sequencing was performed and subsequently analyzed
  
  Gene: F8
  
  Variant: NM_000132.3:c.5411_5413del
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: NA
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 InheritancePattern:Xlinked DiseaseSeverity:SevereHemophiliaA PreviousTesting:None FVIIItesting:Full ParentalTest:Unknown FamilyInfo DiseaseEntity:FactorVIIIDeficiency Zygosity:Hemizygous Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:InframeDel UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

DiseaseEntity:FactorVIIIDeficiency

inferred_gene_hgnc:3546

Zygosity:Hemizygous

inferred_gene_source:hgnc_tag

ParentalTest:Unknown

FamilyInfo

Gene:F8

UnregisteredVariant

Mutation:InframeDel

FVIIItesting:Full

ClinGen Coag Fac Def VCEP

InheritancePattern:Xlinked

AssayDiscrepancy:NotReported

HGNC:3546

DiseaseSeverity:SevereHemophiliaA

CaseInfo

Inhibitor:Absent

PreviousTesting:None

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC6069878/

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