Hypothesis

73 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

9
1. 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
2. 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
3. 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
4. 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
5. 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
6. 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
7. 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
8. 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
9. 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
Visit annotations in context

Tags

inferred_gene_hgnc:3546

FVIIItesting:Partial

inferred_gene_source:hgnc_tag

Mutation:Frameshift

Mutation:Intronic

CAID:CA414908661

Mutation:Splice

AssayDiscrepancy:NotReported

Mutation:Missense

CAID:CA414903164

ParentalTest:Unknown

Mutation:Nonsense

DiseaseEntity:FactorVIIIDeficiency

DiseaseSeverity:SevereHemophiliaA

ToCheck

ClinGen Coag Fac Def VCEP

HGNC:3546

CaseInfo

Gene:F8

Inhibitor:Present

Mutation:Large

UnregisteredVariant

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC7752620/
www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu

Untitled document

36
1. 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
2. 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
3. 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
4. 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
5. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  009–1005
  
  Case#: 009-1005
  
  DiseaseAssertion: Hemophilia A,
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C ..., 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 ToCheck Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
6. 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
7. 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
8. 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
9. 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
10. 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
11. 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
12. 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
13. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  071–1037
  
  Case#: 071-1037
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 1% < FVIII:C < 5%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.3169G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255144
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FIXtesting:Partial SupplementalData CAID:CA255144 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
14. 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
15. 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
16. 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
17. 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
18. 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
19. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  047–1020
  
  Case#: 047-1020
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 1% < FVIII:C < 5%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.3169G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255144
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FIXtesting:Partial SupplementalData CAID:CA255144 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
20. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  003–2024
  
  Case#: 003-2024
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 5% < FVIII:C < 40%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.5399G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255162
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255162 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
21. 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
22. 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
23. 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
24. 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
25. 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
26. 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
27. 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
28. 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
29. 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
30. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  047–1013
  
  Case#: 047-1013
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 5% < FVIII:C < 40%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.1492G>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414912741
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FIXtesting:Partial SupplementalData CAID:CA414912741 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
31. 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
32. 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
33. 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
34. 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
35. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  047–1001
  
  Case#: 047-1001
  
  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
36. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  038–2020
  
  Case#: 038-2020
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255146 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

DiseaseSeverity:MildHemophiliaA

CAID:CA414915615

FVIIItesting:Partial

CAID:CA255162

CAID:CA255144

CAID:CA414912741

CAID:CA255065

Mutation:Splice

CAID:CA255072

InheritancePattern:NoInheritanceAssertion

Zygosity:NoZygosityAssertion

CAID:CA414916134

AssayDiscrepancy:NotReported

CAID:CA414916885

PreviousTesting:None

ParentalTest:Unknown

DiseaseSeverity:ModerateHemophiliaA

FIXtesting:Partial

DiseaseSeverity:SevereHemophiliaA

ToCheck

ClinGen Coag Fac Def VCEP

HGNC:3546

CaseInfo

Gene:F8

Inhibitor:Present

inferred_gene_hgnc:3546

inferred_gene_source:hgnc_tag

CAID:CA255050

Mutation:Intronic

CAID:CA414904758

Mutation:Missense

SupplementalData

CAID:CA255146

CAID:CA414912560

Mutation:Nonsense

DiseaseEntity:FactorVIIIDeficiency

CAID:CA414919141

Mutation:Large

UnregisteredVariant

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
onlinelibrary.wiley.com onlinelibrary.wiley.com

hae14141-sup-0001-tables1.pdf

25
1. 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
2. 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
3. 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
4. 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
5. 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
6. 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
7. 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
8. 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
9. 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
10. 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
11. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  24
  
  Case#: 24, male, 8 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6666G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414905572
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense ParentalConfirmation:Maternity CAID:CA414905572 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
12. 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
13. 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
14. 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
15. 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
16. 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
17. 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
18. 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
19. 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
20. 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
21. 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
22. 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
23. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  173
  
  Case#: 173, male, 21 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 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
24. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  135
  
  Case#: 135, male, 54 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.5961dupA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA645251974
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA645251974 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
25. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  185
  
  Case#: 185, 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.del exon26
  
  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
Visit annotations in context

Tags

CAID:CA414919166

CAID:CA255007

Mutation:Frameshift

CAID:CA414919866

AssayDiscrepancy:NotReported

CAID:CA645251974

CAID:CA255031

Zygosity:Hemizygous

DiseaseSeverity:ModerateHemophiliaA

FIXtesting:Partial

DiseaseSeverity:SevereHemophiliaA

ToCheck

ClinGen Coag Fac Def VCEP

HGNC:3546

CaseInfo

Gene:F8

ClinVarID:10139

Inhibitor:Present

inferred_gene_hgnc:3546

ClinVarID:10085

CAID:CA414906727

inferred_gene_source:hgnc_tag

ParentalConfirmation:Maternity

CAID:CA255050

Mutation:Missense

SupplementalData

CAID:CA255146

CAID:CA414905572

Mutation:Nonsense

CAID:CA255225

DiseaseEntity:FactorVIIIDeficiency

ClinVarID:10333

CAID:CA414915370

Mutation:Large

UnregisteredVariant

Annotators

ClingenBaseline

URL

onlinelibrary.wiley.com/action/downloadSupplement
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Assessment of the F9 genotype-specific FIX inhibitor risks and characterization of 10 novel severe F9 defects in the first molecular series of Argentine patients with haemophilia B

3
1. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  33.
  
  Case#: 33
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.103G>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414435383
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Nonsense Inhibitor:Present ToCheck CAID:CA414435383 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
2. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  38.
  
  Case#: 38
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.719G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414441403
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Nonsense Inhibitor:Present CAID:CA414441403 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
3. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  35.
  
  Case#: 35
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.223C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA340993
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Nonsense Inhibitor:Present CAID:CA340993 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

DiseaseSeverity:SevereHemophiliaB

inferred_gene_source:CAID

CAID:CA414441403

Zygosity:NoZygosityAssertion

AssayDiscrepancy:NotReported

CAID:CA414435383

Mutation:Nonsense

FIXtesting:Partial

ToCheck

ClinGen Coag Fac Def VCEP

DiseaseEntity:FactorIXDeficiency

CaseInfo

Inhibitor:Present

CAID:CA340993

inferred_gene_hgnc:3551

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC4220540/

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