Hypothesis

449 Matching Annotations

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

A genetic analysis of 23 Chinese patients with hemophilia B

10
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  2
  
  Case#: 2
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: NA
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All exons, UTRs, exon-intron junction regions, and the promotor of F9 were amplified by PCR and analyzed by direct DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.391+1G>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414438024
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Splice Inhibitor:NotReported CAID:CA414438024 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
2. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  15
  
  Case#: 15
  
  DiseaseAssertion: Hemophilia B, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: NA
  
  CaseHPOFreeText: FIX:C = 2.6%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All exons, UTRs, exon-intron junction regions, and the promotor of F9 were amplified by PCR and analyzed by direct DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.781T>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414443378
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense CAID:CA414443378 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
3. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  10
  
  Case#: 10
  
  DiseaseAssertion: Hemophilia B, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: NA
  
  CaseHPOFreeText: FIX:C = 1.8%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All exons, UTRs, exon-intron junction regions, and the promotor of F9 were amplified by PCR and analyzed by direct DNA sequencing
  
  Gene: F9
  
  Variant:
  
  LegacyVariant: NM_000133.3:c.880C>T
  
  ClinVar: No
  
  CAID: CA255344
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense CAID:CA255344 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
4. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  4
  
  Case#: 4
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: NA
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All exons, UTRs, exon-intron junction regions, and the promotor of F9 were amplified by PCR and analyzed by direct DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.520G>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414439517
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense Inhibitor:NotReported CAID:CA414439517 ToCheck inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
5. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  19
  
  Case#: 19
  
  DiseaseAssertion: Hemophilia B, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: NA
  
  CaseHPOFreeText: FIX:C = 1.9%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All exons, UTRs, exon-intron junction regions, and the promotor of F9 were amplified by PCR and analyzed by direct DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.755G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414443205
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense CAID:CA414443205 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
6. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  7
  
  Case#: 7
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: NA
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All exons, UTRs, exon-intron junction regions, and the promotor of F9 were amplified by PCR and analyzed by direct DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.677G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA121128
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense CAID:CA121128 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
7. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  18
  
  Case#: 18
  
  DiseaseAssertion: Hemophilia B, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: NA
  
  CaseHPOFreeText: FIX:C = 3.9%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All exons, UTRs, exon-intron junction regions, and the promotor of F9 were amplified by PCR and analyzed by direct DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.284A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414437372
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense CAID:CA414437372 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
8. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  14
  
  Case#: 14
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: NA
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All exons, UTRs, exon-intron junction regions, and the promotor of F9 were amplified by PCR and analyzed by direct DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.59T>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414434363
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation: Missense CAID:CA414434363 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
9. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  3
  
  Case#: 3
  
  DiseaseAssertion: Hemophilia B, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: NA
  
  CaseHPOFreeText: FIX:C = 2%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All exons, UTRs, exon-intron junction regions, and the promotor of F9 were amplified by PCR and analyzed by direct DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.881G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255368
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation: Missense Inhibitor:NotReported CAID:CA255368 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
10. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  9
  
  Case#: 9
  
  DiseaseAssertion: Hemophilia B, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: NA
  
  CaseHPOFreeText: FIX:C = 5.1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All exons, UTRs, exon-intron junction regions, and the promotor of F9 were amplified by PCR and analyzed by direct DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.172G>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414435830
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense DiseaseSeverity:MildHemophiliaB CAID:CA414435830 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

Mutation:Splice

CAID:CA414439517

CAID:CA255344

Zygosity:NoZygosityAssertion

AssayDiscrepancy:NotReported

ParentalTest:Unknown

ToCheck

CAID:CA414443205

ClinGen Coag Fac Def VCEP

CaseInfo

DiseaseSeverity:ModerateHemophiliaB

CAID:CA255368

Inhibitor:NotReported

CAID:CA414437372

DiseaseSeverity:SevereHemophiliaB

CAID:CA414443378

CAID:CA414438024

CAID:CA414435830

inferred_gene_source:CAID

Mutation: Missense

Mutation:Missense

FIXtesting:Full

CAID:CA121128

DiseaseEntity:FactorIXDeficiency

DiseaseSeverity:MildHemophiliaB

CAID:CA414434363

inferred_gene_hgnc:3551

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC4842959/
onlinelibrary.wiley.com onlinelibrary.wiley.com

hae14141-sup-0001-tables1.pdf

79
1. 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
2. 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
3. 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
4. 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
5. 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
6. 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
7. 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
8. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  161
  
  Case#: 161, male, 8 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1.5%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
9. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  88
  
  Case#: 88, male, 29 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 2%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6406G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414899430
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414899430 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
10. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  80
  
  Case#: 80, male, 52 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 10.9%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5707G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414907751
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414907751 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
11. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  56
  
  Case#: 56, male, 12 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 29%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1834C>T
  
  LegacyVariant:
  
  ClinVar: 10236
  
  CAID: CA255129
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA255129 ClinVarID:10236 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
12. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  69
  
  Case#: 69, male, 11 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1.1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5321A>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414910719
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414910719 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
13. 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
14. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  75
  
  Case#: 75, male, 14 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 16.5%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5545T>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414908552
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414908552 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
15. 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
16. 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
17. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  61
  
  Case#: 61, male, 7 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.2066T>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414909145
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense DiseaseEntity:FactorVIIIDeficiency CAID:CA414909145 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
18. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  132
  
  Case#: 132, male, 28 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 2.7%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.4379dupA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA645292749
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA645292749 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
19. 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
20. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  45
  
  Case#: 45, male, 75 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 6.5%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1172G>A
  
  LegacyVariant:
  
  ClinVar: 10111
  
  CAID: CA120918
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA120918 ClinVarID:10111 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
21. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  157
  
  Case#: 157, male, 30 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1.2%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
22. 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
23. 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
24. 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
25. 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
26. 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
27. 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
28. 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
29. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  41
  
  Case#: 41, male, 20 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 5%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.881C>T
  
  LegacyVariant:
  
  ClinVar: 10190
  
  CAID: CA255077
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA255077 ClinVarID:10190 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
30. 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
31. 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
32. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  107
  
  Case#: 107, male, 7 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 9.3%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6814A>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414903910
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414903910 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
33. 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
34. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  93
  
  Case#: 93, male, 45 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 18%
  
  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.6444T>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414907970
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414907970 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
35. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  165
  
  Case#: 165, male, 28 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 3.6%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.4339delG
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA873341376
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA 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
36. 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
37. 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
38. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  100
  
  Case#: 100, male, 15 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 3.2%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6551A>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414907026
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414907026 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
39. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  29
  
  Case#: 29, male, 21 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 2.3%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.337C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919977
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent FIXtesting:Partial Mutation:Missense AssayDiscrepancy:NotReported Zygosity:Hemizygous CAID:CA414919977 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
40. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  74
  
  Case#: 74, male, 60 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 11%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5545T>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414908552
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414908552 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
41. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  87
  
  Case#: 87, male, 11 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 3.9%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6406G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414899430
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414899430 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
42. 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
43. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  60
  
  Case#: 60, male, 19 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 2%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.2029T>C
  
  LegacyVariant:
  
  ClinVar: 10244
  
  CAID: CA255136
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense CAID:CA255136 ClinVarID:10244 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
44. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  104
  
  Case#: 104, male, 13 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 2%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6683G>A
  
  LegacyVariant:
  
  ClinVar: 10098
  
  CAID: CA255016
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA 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
45. 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
46. 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
47. 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
48. 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
49. 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
50. 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
51. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  114
  
  Case#: 114, male, 16 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 3%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.601+1G>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919361
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Splice ParentalConfirmation:Maternity SupplementalData CAID:CA414919361 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
52. 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
53. 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
54. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  23
  
  Case#: 23, male, 21 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 2%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6496C>T
  
  LegacyVariant:
  
  ClinVar: 10096
  
  CAID: CA255013
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense ParentalConfirmation:Maternity CAID:CA255013 ClinVarID:10096 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
55. 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
56. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  92
  
  Case#: 92, male, 61 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 4.2%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6440G>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414908004
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414908004 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
57. 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
58. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  54
  
  Case#: 54, male, 9 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 17%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1834C>T
  
  LegacyVariant:
  
  ClinVar: 10236
  
  CAID: CA255129
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA255129 ClinVarID:10236 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
59. 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
60. 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
61. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  96
  
  Case#: 96, male, 55 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1.2%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6515C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414907354
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414907354 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
62. 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
63. 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
64. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  19
  
  Case#: 19, male, 48 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.4342C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414918542
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseSeverity:ModerateHemophiliaA DiseaseEntity:FactorVIIIDeficiency Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense CAID:CA414918542 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
65. 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
66. 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
67. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  121
  
  Case#: 121, male, 16 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 2%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5586+2T>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414908347
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Splice SupplementalData DiseaseEntity:FactorVIIIDeficiency CAID:CA414908347 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
68. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  131
  
  Case#: 131, male, 23 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: na
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1.5%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.4379dupA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA645292749
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift SupplementalData CAID:CA645292749 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
69. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  126
  
  Case#: 126, male, 33 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 7.9%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.2133_2134insT
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA 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
70. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  48
  
  Case#: 48, male, 37 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1.2%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1331A>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414914983
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense CAID:CA414914983 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
71. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  38
  
  Case#: 38, male, 10 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 13%
  
  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.530A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919515
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414919515 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
72. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  59
  
  Case#: 59, male, 13 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1.1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1913G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414909831
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense CAID:CA414909831 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
73. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  57
  
  Case#: 57, male, 9 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 2%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1909A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414909856
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414909856 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
74. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  119
  
  Case#: 119, male, 10 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 3.3%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5219+3A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA873340051
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Splice ParentalConfirmation:Maternity SupplementalData CAID:CA873340051 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
75. 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
76. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  155
  
  Case#: 155, male, 27 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1.4%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
77. 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
78. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  51
  
  Case#: 51, male, 8 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 22%
  
  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.1758G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414911269
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414911269 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
79. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  67
  
  Case#: 67, male, 30 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 8.5%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.2167G>A
  
  LegacyVariant:
  
  ClinVar: 10246
  
  CAID: CA255138
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA255138 ClinVarID:10246 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

CAID:CA414919166

CAID:CA414920419

ClinVarID:10300

CAID:CA255013

CAID:CA414908004

CAID:CA255007

CAID:CA414919878

CAID:CA873340051

CAID:CA414919515

CAID:CA343865

CAID:CA414919872

CAID:CA414908347

CAID:CA414906679

InheritancePattern:NoInheritanceAssertion

ClinVarID:10190

CAID:CA414914983

CAID:CA414907751

CAID:CA645292749

ParentalTest:Unknown

CAID:CA414907354

CAID:CA255031

Zygosity:Hemizygous

DiseaseSeverity:ModerateHemophiliaA

DiseaseSeverity:SevereHemophiliaA

ToCheck

ClinGen Coag Fac Def VCEP

CAID:CA873368227

CAID:CA414911437

HGNC:3546

CaseInfo

CAID:CA255151

ClinVarID:10236

ClinVarID:10244

ClinVarID:10098

CAID:CA414904456

CAID:CA414903910

CAID:CA414910719

ClinVarID:10085

CAID:CA414909831

Inhibitor:Absent

CAID:CA255050

CAID:CA414920533

ClinVarID:811825

CAID:CA873341376

Mutation:Missense

SupplementalData

CAID:CA255146

CAID:CA255138

CAID:CA255191

CAID:CA414915370

CAID:CA414909856

Mutation:Large

DiseaseSeverity:MildHemophiliaA

ClinVarID:10096

FVIIItesting:Partial

CAID:CA414920057

CAID:CA873358609

CAID:CA414919977

CAID:CA414911269

Mutation:Frameshift

Mutation:Splice

CAID:CA255077

CAID:CA414919361

CAID:CA255214

CAID:CA414919866

AssayDiscrepancy:NotReported

CAID:CA414919022

CAID:CA414910596

ClinVarID:10111

CAID:CA414910951

PreviousTesting:None

CAID:CA255016

CAID:CA414908275

FIXtesting:Partial

CAID:CA414907026

Gene:F8

ClinVarID:10139

Inhibitor:Present

CAID:CA255142

inferred_gene_hgnc:3546

CAID:CA414906727

ClinVarID:40999

CAID:CA414901774

ClinVarID:10246

inferred_gene_source:hgnc_tag

ParentalConfirmation:Maternity

CAID:CA414899430

CAID:CA414911019

ClinVarID:10321

CAID:CA255129

CAID:CA414908552

Mutation:Nonsense

DiseaseEntity:FactorVIIIDeficiency

CAID:CA414909145

CAID:CA255136

CAID:CA414918542

ClinVarID:811704

CAID:CA414915622

CAID:CA120918

CAID:CA414920668

CAID:CA414907970

UnregisteredVariant

CAID:CA414903786

Annotators

ClingenBaseline

URL

onlinelibrary.wiley.com/action/downloadSupplement
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

inferred_gene_hgnc:3546

FVIIItesting:Full

Inhibitor:Absent

FamilyInfo

inferred_gene_source:hgnc_tag

AssayDiscrepancy:NotReported

PreviousTesting:None

ParentalTest:Unknown

InheritancePattern:Xlinked

DiseaseEntity:FactorVIIIDeficiency

Zygosity:Hemizygous

DiseaseSeverity:SevereHemophiliaA

ClinGen Coag Fac Def VCEP

HGNC:3546

CaseInfo

Gene:F8

Mutation:InframeDel

UnregisteredVariant

Annotators

ClingenBaseline

URL

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

Assessment of the F9 genotype-specific FIX inhibitor risks and characterization of 10 novel severe F9 defects in the first molecular series of Argentine patients with haemophilia B

21
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  39.
  
  Case#: 39
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.892C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255370
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Nonsense Inhibitor:Absent CAID:CA255370 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
2. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  32.
  
  Case#: 32
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.1306G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414447233
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414447233 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
3. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  23.
  
  Case#: 23
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.1193G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414446384
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414446384 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
4. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  3.
  
  Case#: 3
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.128G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414435539
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414435539 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
5. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  16.
  
  Case#: 16
  
  DiseaseAssertion: Hemophilia B, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C = 12%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.881G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255368
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:MildHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA255368 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
6. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  10.
  
  Case#: 10
  
  DiseaseAssertion: Hemophilia B, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C = 2.5%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.571C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255340
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA255340 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
7. 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
8. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  31.
  
  Case#: 31
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.1291T>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414447125
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414447125 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
9. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  22
  
  Case#: 22
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.1145G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414446163
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414446163 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
10. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  2.
  
  Case#: 2
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.127C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414435537
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414435537 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
11. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  1.
  
  Case#: 1
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.88G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414434500
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414434500 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
12. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  30.
  
  Case#: 30
  
  DiseaseAssertion: Hemophilia B, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C = 3%
  
  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.1291T>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414447130
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414447130 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
13. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  9.
  
  Case#: 9
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.533G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414440301
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414440301 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
14. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  37.
  
  Case#: 37
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.655C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255347
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Nonsense Inhibitor:Absent CAID:CA255347 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
15. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  8.
  
  Case#: 8
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.422G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414438897
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414438897 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
16. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  21.
  
  Case#: 21
  
  DiseaseAssertion: Hemophilia B, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C = 2%
  
  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.1136G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255394
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA255394 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
17. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  15.
  
  Case#: 15
  
  DiseaseAssertion: Hemophilia B, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C = 3.5%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.881G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255368
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA255368 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
18. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  14.
  
  Case#: 14
  
  DiseaseAssertion: Hemophilia B, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C = 10%
  
  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.835G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA277507
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:MildHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA277507 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
19. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  44.
  
  Case#: 44
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.253-2A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414436483
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Splice Inhibitor:Absent CAID:CA414436483 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
20. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  20.
  
  Case#: 20
  
  DiseaseAssertion: Hemophilia B, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C = 6%
  
  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.1136G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255394
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:MildHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA255394 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
21. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  49.
  
  Case#: 49
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.862_863delGA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Inhibitor:Absent Mutation:Frameshift UnregisteredVariant inferred_gene_hgnc:3551 inferred_gene_source:RefSeq ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

CAID:CA414446384

Mutation:Splice

Mutation:Frameshift

CAID:CA414446163

Zygosity:NoZygosityAssertion

AssayDiscrepancy:NotReported

inferred_gene_source:RefSeq

CAID:CA414435537

CAID:CA414438897

CAID:CA414436483

FIXtesting:Partial

ClinGen Coag Fac Def VCEP

CAID:CA277507

CaseInfo

DiseaseSeverity:ModerateHemophiliaB

Inhibitor:Present

inferred_gene_hgnc:3551

CAID:CA255368

CAID:CA255394

Inhibitor:Absent

DiseaseSeverity:SevereHemophiliaB

CAID:CA414435539

inferred_gene_source:CAID

CAID:CA414447130

CAID:CA414441403

CAID:CA414447125

Mutation:Missense

Mutation:Nonsense

CAID:CA414447233

CAID:CA255347

CAID:CA255370

DiseaseEntity:FactorIXDeficiency

DiseaseSeverity:MildHemophiliaB

CAID:CA414434500

CAID:CA414440301

UnregisteredVariant

CAID:CA255340

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC4220540/
www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu

Untitled document

75
1. 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
2. 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
3. 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
4. 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
5. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  002–2017
  
  Case#: 002-2017
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 5% < FVIII:C < 40%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.941C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414917829
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414917829 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
6. 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
7. 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
8. 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
9. 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
10. 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
11. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  071–1036
  
  Case#: 071-1036
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 1% < FVIII:C < 5%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
12. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  060–2010
  
  Case#: 060-2010
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 5% < FVIII:C < 40%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.1834C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255129
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorIXDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255129 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
13. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  020–2024
  
  Case#: 020-2024
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 5% < FVIII:C < 40%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.437A>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919724
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414919724 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
14. 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
15. 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
16. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  020–2006
  
  Case#: 020-2006
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 5% < FVIII:C < 40%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.1492G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255109
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255109 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
17. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  035–2022
  
  Case#: 035-2022
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 5% < FVIII:C < 40%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.5954G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414905715
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414905715 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
18. 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
19. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  091–2008
  
  Case#: 091-2008
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 1% < FVIII:C < 5%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.142A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414920432
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414920432 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
20. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  001–2051
  
  Case#: 001-2051
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 1% < FVIII:C < 5%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.2134C>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414904092
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414904092 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
21. 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
22. 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
23. 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
24. 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
25. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  080–2002
  
  Case#: 080-2002
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 5% < FVIII:C < 40%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.1649G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255115
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255115 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
26. 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
27. 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
28. 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
29. 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
30. 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
31. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  060–2009
  
  Case#: 060-2009
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 5% < FVIII:C < 40%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.1834C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255129
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255129 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
32. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  016–2003
  
  Case#: 016-2003
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 5% < FVIII:C < 40%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.2129G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414904142
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414904142 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
33. 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
34. 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
35. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  091–2004
  
  Case#: 091-2004
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 1% < FVIII:C < 5%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.5281T>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414911024
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414911024 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
36. 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
37. 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
38. 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
39. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  035–2021
  
  Case#: 035-2021
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 5% < FVIII:C < 40%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.5954G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414905715
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414905715 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
40. 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
41. 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
42. 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
43. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  035–2019
  
  Case#: 035-2019
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 5% < FVIII:C < 40%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.923C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255082
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255082 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
44. 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
45. 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
46. 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
47. 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
48. 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
49. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  066–2003
  
  Case#: 066-2003
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 5% < FVIII:C < 40%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.1649G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255115
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255115 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
50. 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
51. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  002–2002
  
  Case#: 002-2002
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 1% < FVIII:C < 5%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.2092T>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414908999
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414908999 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
52. 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
53. 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
54. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  001–2040
  
  Case#: 001-2040
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 1% < FVIII:C < 5%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.5630G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414908131
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414908131 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
55. 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
56. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  038–2012
  
  Case#: 038-2012
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 5% < FVIII:C < 40%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.1834C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255129
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255129 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
57. 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
58. 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
59. 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
60. 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
61. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  035–2005
  
  Case#: 035-2005
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 1% < FVIII:C < 5%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.1175C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255095
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255095 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
62. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  068–2003
  
  Case#: 068-2003
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 5% < FVIII:C < 40%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.5275G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414911087
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414911087 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
63. 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
64. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  022–2007
  
  Case#: 022-2007
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 1% < FVIII:C < 5%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.73_75delTAC
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
65. 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
66. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  001–2052
  
  Case#: 001-2052
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 5% < FVIII:C < 40%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.1988C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255135
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255135 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
67. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  050–1001
  
  Case#: 050-1001
  
  DiseaseAssertion: Hemophilia A, moderate
  
  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:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Missense FIXtesting:Partial SupplementalData CAID:CA255197 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
68. 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
69. 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
70. 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
71. 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
72. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  020–2015
  
  Case#: 020-2015
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 5% < FVIII:C < 40%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.5612T>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414908197
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414908197 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
73. 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
74. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  004–2025
  
  Case#: 004-2025
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 5% < FVIII:C < 40%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.328A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255057
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255057 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
75. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  001–2049
  
  Case#: 001-2049
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.901C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414917990
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414917990 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

CAID:CA414905715

CAID:CA255162

CAID:CA414911721

Mutation:InframeDelins

CAID:CA414912741

CAID:CA414911251

InheritancePattern:NoInheritanceAssertion

CAID:CA414916134

CAID:CA414916885

CAID:CA414917829

CAID:CA414919724

ParentalTest:Unknown

CAID:CA645292749

DiseaseSeverity:ModerateHemophiliaA

DiseaseSeverity:SevereHemophiliaA

ToCheck

ClinGen Coag Fac Def VCEP

CAID:CA414919550

HGNC:3546

CaseInfo

CAID:CA255151

Inhibitor:NotReported

Inhibitor:Absent

CAID:CA414919965

CAID:CA255095

CAID:CA255152

Mutation:Missense

SupplementalData

CAID:CA255146

CAID:CA255082

CAID:CA414919141

CAID:CA255197

Mutation:Large

DiseaseSeverity:MildHemophiliaA

CAID:CA414915615

FVIIItesting:Partial

CAID:CA255144

CAID:CA414908999

CAID:CA255065

Mutation:Splice

CAID:CA414908131

Zygosity:NoZygosityAssertion

AssayDiscrepancy:NotReported

CAID:CA255115

PreviousTesting:None

CAID:CA255135

FIXtesting:Partial

CAID:CA414917990

Gene:F8

Inhibitor:Present

CAID:CA414920432

CAID:CA414911087

CAID:CA414904142

CAID:CA255038

inferred_gene_hgnc:3546

inferred_gene_source:hgnc_tag

Mutation:Intronic

CAID:CA414911950

CAID:CA255057

CAID:CA414904758

CAID:CA414908197

CAID:CA255129

CAID:CA255109

Mutation:Nonsense

DiseaseEntity:FactorVIIIDeficiency

CAID:CA414904092

DiseaseEntity:FactorIXDeficiency

CAID:CA414911024

UnregisteredVariant

CAID:CA414911240

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

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

14
1. 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
2. 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
3. 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
4. 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
5. 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
6. 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
7. 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
8. 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
9. 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
10. 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
11. 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
12. 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
13. 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
14. 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

FVIIItesting:Partial

CAID:CA645616770

Mutation:Frameshift

Mutation:Splice

AssayDiscrepancy:NotReported

CAID:CA873350278

ParentalTest:Unknown

DiseaseSeverity:SevereHemophiliaA

ToCheck

ClinGen Coag Fac Def VCEP

HGNC:3546

CaseInfo

Gene:F8

Inhibitor:Present

inferred_gene_hgnc:3546

Inhibitor:Absent

inferred_gene_source:hgnc_tag

CAID:CA10568366

Mutation:Intronic

Mutation:Missense

DiseaseEntity:FactorVIIIDeficiency

Mutation:InframeDel

Mutation:Large

UnregisteredVariant

Annotators

ClingenBaseline

URL

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

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