Hypothesis

156 Matching Annotations

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

A genetic analysis of 23 Chinese patients with hemophilia B

20
1. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  1
  
  Case#: 1
  
  DiseaseAssertion: Hemophilia B, moderate
  
  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.1324G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255418
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Inhibitor:NotReported Mutation:Missense CAID:CA255418 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
2. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  6
  
  Case#: 6
  
  DiseaseAssertion: Hemophilia B, moderate
  
  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.1307C>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255413
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation: Missense Inhibitor:NotReported CAID:CA255413 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
3. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  17
  
  Case#: 17
  
  DiseaseAssertion: Hemophilia B, moderate
  
  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.172G>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414435830
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense CAID:CA414435830 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
4. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  8
  
  Case#: 8
  
  DiseaseAssertion: Hemophilia B, moderate
  
  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.349T>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414437669
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense CAID:CA414437669 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
5. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  16
  
  Case#: 16
  
  DiseaseAssertion: Hemophilia B, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: NA
  
  CaseHPOFreeText: FIX:C = 1.5%
  
  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.427C>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414438921
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense CAID:CA414438921 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
6. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  11
  
  Case#: 11
  
  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.676C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255350
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense CAID:CA255350 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
7. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  20
  
  Case#: 20
  
  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.252+1G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414436412
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Splice CAID:CA414436412 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
8. 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
9. 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
10. 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
11. 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
12. 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
13. 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
14. 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
15. 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
16. 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
17. 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
18. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  12
  
  Case#: 12
  
  DiseaseAssertion: NA
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: NA
  
  CaseHPOFreeText: Na
  
  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.434G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414438950
  
  gnomAD:
  
  CaseInfo Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion ParentalTest:Unknown ToCheck Mutation:Missense CAID:CA414438950 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
19. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  22
  
  Case#: 22
  
  DiseaseAssertion: Hemophilia B, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: NA
  
  CaseHPOFreeText: FIX:C = 19.5%
  
  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.571C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255340
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:MildHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense CAID:CA255340 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
20. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  13
  
  Case#: 13
  
  DiseaseAssertion: Hemophilia B, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: NA
  
  CaseHPOFreeText: FIX:C = 3.7%
  
  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.374G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414437883
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation: Missense CAID:CA414437883 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

DiseaseEntity:FactorIXDeficiency

Inhibitor:NotReported

inferred_gene_source:CAID

inferred_gene_hgnc:3551

DiseaseSeverity:MildHemophiliaB

CAID:CA414439517

CAID:CA414434363

AssayDiscrepancy:NotReported

CAID:CA255344

CAID:CA255418

CAID:CA121128

CAID:CA414438950

CaseInfo

CAID:CA255340

Mutation: Missense

Mutation:Splice

CAID:CA414435830

FIXtesting:Full

CAID:CA414438024

CAID:CA414443205

CAID:CA414436412

CAID:CA414437669

CAID:CA414437372

CAID:CA255413

CAID:CA414443378

CAID:CA414437883

CAID:CA255368

DiseaseSeverity:SevereHemophiliaB

ToCheck

ParentalTest:Unknown

CAID:CA255350

CAID:CA414438921

Zygosity:NoZygosityAssertion

ClinGen Coag Fac Def VCEP

DiseaseSeverity:ModerateHemophiliaB

Mutation:Missense

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC4842959/
www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu

Haemophilia A mutations in patients with non-severe phenotype associated with a discrepancy between one-stage and chromogenic factor VIII activity assays

23
1. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  B77. B78
  
  Case#: B77, B78
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C Chr = 13, FVIII:AG = 8, inverse assay discrepancy present (OSA<CSA)
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
  
  Gene: F8
  
  Variant: NM_000132.4:c.6358T>C, NM_000132.4:c.6360T>A, NM_000132.4:c.6360T>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414899758, CA414899736, CA255202
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA<CSA ToCheck InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full MultipleGeneVariants Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
2. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  A13
  
  Case#: A13
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 10, FVIII:AG = 60, assay discrepancy present (OSA>CSA)
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
  
  Gene: F8
  
  Variant: NM_000132.4:c.5303G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA10568007
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA>CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA10568007 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
3. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  B14 – B16
  
  Case#: B14 - B16
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C Chr = 10, FVIII:AG = 18, inverse assay discrepancy present (OSA<CSA)
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
  
  Gene: F8
  
  Variant: NM_000132.4:c.1293G>C, NM_000132.4:c.1293G>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414915298, CA255100
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA<CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full MultipleGeneVariants Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
4. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  B32 – B44
  
  Case#: B32 - B44
  
  DiseaseAssertion: NA
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C Chr = 94, FVIII:AG = 88, inverse assay discrepancy present (OSA<CSA)
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
  
  Gene: F8
  
  Variant: NM_000132.4:c.2215G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255139
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 Inhibitor:NotReported AssayDiscrepancy:OSA<CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA255139 NoDiseaseAssertion Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
5. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  A5 – A8
  
  Case#: A5 - A8
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 26, FVIII:AG = 60, assay discrepancy present (OSA>CSA)
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
  
  Gene: F8
  
  Variant: NM_000132.4:c.1649G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255115
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA>CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA255115 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
6. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  A2. A3
  
  Case#: A2, A3
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 4, FVIII:AG = 35, assay discrepancy present (OSA>CSA)
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
  
  Gene: F8
  
  Variant: NM_000132.4:c.881C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255077
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA255077 AssayDiscrepancy:OSA>CSA Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
7. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  B75
  
  Case#: B75
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C Chr = 9, FVIII:AG = 10, inverse assay discrepancy present (OSA<CSA)
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
  
  Gene: F8
  
  Variant: NM_000132.4:c.5323T>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255159
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA<CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA255159 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
8. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  B76
  
  Case#: B76
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C Chr = 7, FVIII:AG = 10, inverse assay discrepancy present (OSA<CSA)
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
  
  Gene: F8
  
  Variant: NM_000132.4:c.5398C>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255164
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA<CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA255164 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
9. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  B45 – B72
  
  Case#: B45 - B72
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C Chr = 9, FVIII:AG = 16, inverse assay discrepancy present (OSA<CSA)
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
  
  Gene: F8
  
  Variant: NM_000132.4:c.5096A>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255022
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA<CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA255022 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
10. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  B17 – B27
  
  Case#: B17 - B27
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C Chr = 31, FVIII:AG = 90, inverse assay discrepancy present (OSA<CSA)
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
  
  Gene: F8
  
  Variant: NM_000132.4:c.1636C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255112
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA<CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA255112 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
11. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  A9 – A11
  
  Case#: A9-A11
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 13, FVIII:AG = 28, assay discrepancy present (OSA>CSA)
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
  
  Gene: F8
  
  Variant: NM_000132.4:c.1648C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255113
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA>CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA255113 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
12. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  B74
  
  Case#: B74
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C Chr = 19, FVIII:AG = 17, inverse assay discrepancy present (OSA<CSA)
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
  
  Gene: F8
  
  Variant: NM_000132.4:c.5325G>C, NM_000132.4:c.5325G>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255160, CA414910668
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA<CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full MultipleGeneVariants Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
13. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  A12
  
  Case#: A12
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 28, FVIII:AG = 54, assay discrepancy present (OSA>CSA)
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
  
  Gene: F8
  
  Variant: NM_000132.4:c.2045T>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414909247
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA>CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA414909247 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
14. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  A16
  
  Case#: A16
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 7, FVIII:AG = 23, assay discrepancy present (OSA>CSA)
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
  
  Gene: F8
  
  Variant: NM_000132.4:c.5879G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255019
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA>CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA255019 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
15. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  B1 – B13
  
  Case#: B1 - B13
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C Chr = 17, FVIII:AG = 18, inverse assay discrepancy present (OSA<CSA)
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
  
  Gene: F8
  
  Variant: NM_000132.4:c.940A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255084
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA<CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA255084 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
16. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  B30. B31
  
  Case#: B30, B31
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C Chr = 6, FVIII:AG = 10, inverse assay discrepancy present (OSA<CSA)
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
  
  Gene: F8
  
  Variant: NM_000132.4:c.2161A>C, NM_000132.4:c.2161A>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414903738, CA414903741
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA<CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full MultipleGeneVariants Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
17. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  B73
  
  Case#: B73
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C Chr = 41, FVIII:AG = 113, inverse assay discrepancy present (OSA<CSA)
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
  
  Gene: F8
  
  Variant: NM_000132.4:c.5123G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255154
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA<CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA255154 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
18. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  A1
  
  Case#: A1
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 7, FVIII:AG = 25, assay discrepancy present (OSA>CSA)
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
  
  Gene: F8
  
  Variant: NM_000132.4:c.398A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255061
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA>CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA255061 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
19. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  B83
  
  Case#: B83
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C Chr = 17, FVIII:AG = 19, inverse assay discrepancy present (OSA<CSA)
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
  
  Gene: F8
  
  Variant: NM_000132.4:c.6448G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414907951
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA<CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA414907951 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
20. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  A14 A15
  
  Case#: A14, A15
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 15, FVIII:AG = 41, assay discrepancy present (OSA>CSA)
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
  
  Gene: F8
  
  Variant: NM_000132.4:c.5530C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255170
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA>CSA ToCheck InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA255170 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
21. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  B79 – B82
  
  Case#: B79 - B82
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C Chr = 7, FVIII:AG = 15, inverse assay discrepancy present (OSA<CSA)
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
  
  Gene: F8
  
  Variant: NM_000132.4:c.6413C>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255204
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA<CSA ToCheck InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA255204 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
22. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  B28. B29
  
  Case#: B28, B29
  
  DiseaseAssertion: NA
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C Chr = 78, FVIII:AG = 94, inverse assay discrepancy present (OSA<CSA)
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
  
  Gene: F8
  
  Variant: NM_000132.4:c.2089G>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414909014
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 Inhibitor:NotReported AssayDiscrepancy:OSA<CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA414909014 NoDiseaseAssertion Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
23. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  A4
  
  Case#: A4
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 6, FVIII:AG = 15, assay discrepancy present (OSA>CSA)
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
  
  Gene: F8
  
  Variant: NM_000132.4:c.896A>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255078
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA>CSA ToCheck InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA255078 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

CAID:CA255019

CAID:CA255077

Inhibitor:NotReported

HGNC:3546

CAID:CA255204

CAID:CA255084

AssayDiscrepancy:OSA>CSA

CAID:CA255078

CAID:CA255170

CAID:CA255139

CaseInfo

InheritancePattern:NoInheritanceAssertion

CAID:CA255113

CAID:CA414909014

PreviousTesting:None

CAID:CA10568007

CAID:CA414909247

DiseaseSeverity:MildHemophiliaA

AssayDiscrepancy:OSA<CSA

CAID:CA255154

DiseaseSeverity:ModerateHemophiliaA

inferred_gene_source:hgnc_tag

NoDiseaseAssertion

FVIIItesting:Full

ToCheck

ParentalTest:Unknown

CAID:CA255115

inferred_gene_hgnc:3546

CAID:CA255022

DiseaseEntity:FactorVIIIDeficiency

Zygosity:NoZygosityAssertion

MultipleGeneVariants

ClinGen Coag Fac Def VCEP

CAID:CA255164

CAID:CA255061

Mutation:Missense

CAID:CA255112

CAID:CA255159

Gene:F8

CAID:CA414907951

Annotators

ClingenBaseline

URL

www-thieme-connect-de.libproxy.lib.unc.edu/products/ejournals/pdf/10.1160/TH13-08-0690.pdf
www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu

Untitled document

110
1. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  091–2011
  
  Case#: 091-2011
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.5393C>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414909064
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414909064 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
2. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  084–2005
  
  Case#: 084-2005
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 5% < FVIII:C < 40%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.1910A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414909849
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414909849 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
3. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  020–2071
  
  Case#: 020-2071
  
  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.1492G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255109
  
  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:CA255109 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
4. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  066–2002
  
  Case#: 066-2002
  
  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.5399G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255162
  
  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:CA255162 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
5. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  071–2025
  
  Case#: 071-2025
  
  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.2167G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255138
  
  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:CA255138 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
6. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  020–2070
  
  Case#: 020-2070
  
  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.558C>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919454
  
  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:CA414919454 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
7. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  003–2002
  
  Case#: 003-2002
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255146 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
8. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  035–2020
  
  Case#: 035-2020
  
  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.5275G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414911087
  
  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:CA414911087 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
9. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  020–2021
  
  Case#: 020-2021
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.1396T>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial UnregisteredVariant SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
10. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  022–2003
  
  Case#: 022-2003
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.278C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414920106
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414920106 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
11. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  003–2025
  
  Case#: 003-2025
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID:
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
12. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  035–2016
  
  Case#: 035-2016
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
13. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  020–2065
  
  Case#: 020-2065
  
  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
14. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  004–2019
  
  Case#: 004-2019
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255146 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
15. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  060–2006
  
  Case#: 060-2006
  
  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.1618C>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414911950
  
  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:CA414911950 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
16. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  001–2026
  
  Case#: 001-2026
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.986G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255089
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255089 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
17. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  047–2002
  
  Case#: 047-2002
  
  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.6011C>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414905140
  
  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:CA414905140 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
18. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  001–2046
  
  Case#: 001-2046
  
  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.822G>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA337337669
  
  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:CA337337669 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
19. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  004–2003
  
  Case#: 004-2003
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.5589delG
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial UnregisteredVariant SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
20. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  004–2015
  
  Case#: 004-2015
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.2152_2153delAA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData Inhibitor:NotReported UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
21. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  084–2004
  
  Case#: 084-2004
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 5% < FVIII:C < 40%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.1910A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414909849
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414909849 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
22. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  071–2024
  
  Case#: 071-2024
  
  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.2167G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255138
  
  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:CA255138 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
23. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  066–2001
  
  Case#: 066-2001
  
  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.6098T>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414904604
  
  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:CA414904604 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
24. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  072–2009
  
  Case#: 072-2009
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.1332A>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414914974
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414914974 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
25. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  003–2014
  
  Case#: 003-2014
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID:
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
26. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  071–2001
  
  Case#: 071-2001
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.901C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414917990
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414917990 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
27. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  035–2013
  
  Case#: 035-2013
  
  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.5275G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414911087
  
  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:CA414911087 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
28. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  091–2010
  
  Case#: 091-2010
  
  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.1475A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA337334224
  
  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:CA337334224 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
29. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  071–2023
  
  Case#: 071-2023
  
  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.2167G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255138
  
  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:CA255138 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
30. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  047–2001
  
  Case#: 047-2001
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 1% < FVIII:C < 5%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255146 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
31. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  020–2054
  
  Case#: 020-2054
  
  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.1899G>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414910251
  
  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:CA414910251 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
32. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  060–2004
  
  Case#: 060-2004
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.272T>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414920117
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414920117 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
33. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  004–2012
  
  Case#: 004-2012
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255146 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
34. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  020–2063
  
  Case#: 020-2063
  
  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.558C>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919454
  
  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:CA414919454 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
35. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  072–2007
  
  Case#: 072-2007
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.5686_5687insA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
36. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  020–2020
  
  Case#: 020-2020
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
37. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  001–2025
  
  Case#: 001-2025
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.986G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255089
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255089 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
38. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  020–2038
  
  Case#: 020-2038
  
  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
39. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  015–2011
  
  Case#: 015-2011
  
  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.1241A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414915839
  
  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:CA414915839 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
40. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  020–2013
  
  Case#: 020-2013
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.5368_5370delATC
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial UnregisteredVariant SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
41. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  001–2041
  
  Case#: 001-2041
  
  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.2167G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255138
  
  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:CA255138 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
42. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  004–2009
  
  Case#: 004-2009
  
  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.1899G>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414910251
  
  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:CA414910251 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
43. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  003–2003
  
  Case#: 003-2003
  
  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
44. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  071–2015
  
  Case#: 071-2015
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.2710dupC
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
45. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  020–2023
  
  Case#: 020-2023
  
  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.5312T>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414910786
  
  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:CA414910786 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
46. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  002–2005
  
  Case#: 002-2005
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.217T>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414920251
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414920251 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
47. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  060–2007
  
  Case#: 060-2007
  
  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.5399G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255162
  
  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:CA255162 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
48. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  044–2001
  
  Case#: 044-2001
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.6344delT
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial UnregisteredVariant SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
49. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  022–2004
  
  Case#: 022-2004
  
  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
50. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  015–2005
  
  Case#: 015-2005
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
51. 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
52. 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
53. 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
54. 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
55. 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
56. 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
57. 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
58. 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
59. 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
60. 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
61. 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
62. 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
63. 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
64. 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
65. 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
66. 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
67. 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
68. 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
69. 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
70. 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
71. 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
72. 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
73. 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
74. 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
75. 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
76. 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
77. 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
78. 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
79. 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
80. 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
81. 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
82. 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
83. 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
84. 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
85. 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
86. 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
87. 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
88. 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
89. 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
90. 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
91. 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
92. 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
93. 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
94. 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
95. 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
96. 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
97. 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
98. 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
99. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  045–2002
  
  Case#: 045-2002
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 1% < FVIII:C < 5%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion CAID:CA255146 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
100. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  003–2012
  
  Case#: 003-2012
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 5% < FVIII:C < 40%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.992T>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414917621
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414917621 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
101. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  003–2017
  
  Case#: 003-2017
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.4379dupA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA645292749
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA645292749 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
102. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  020–2052
  
  Case#: 020-2052
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 5% < FVIII:C < 40%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.923C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255082
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255082 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
103. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  003–2007
  
  Case#: 003-2007
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 1% < FVIII:C < 5%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.1475A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA337334224
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA337334224 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
104. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  087–2003
  
  Case#: 087-2003
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.5122C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA120919
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA120919 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
105. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  020–2045
  
  Case#: 020-2045
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 5% < FVIII:C < 40%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.458A>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919676
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414919676 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
106. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  084–2006
  
  Case#: 084-2006
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 5% < FVIII:C < 40%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.1910A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414909849
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414909849 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
107. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  001–2045
  
  Case#: 001-2045
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.1462G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414912862
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414912862 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
108. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  071–2032
  
  Case#: 071-2032
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.308_319delGTGGTCATTACA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
109. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  001–2028
  
  Case#: 001-2028
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.4379dupA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA645292749
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA645292749 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
110. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  035–2017
  
  Case#: 035-2017
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 5% < FVIII:C < 40%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.1834C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255129
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255129 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

FVIIItesting:Partial

CAID:CA414911950

CAID:CA414917621

Inhibitor:NotReported

HGNC:3546

CAID:CA255082

CAID:CA414920106

CAID:CA255057

CAID:CA414909849

AssayDiscrepancy:NotReported

InheritancePattern:NoInheritanceAssertion

SupplementalData

CAID:CA414905140

CAID:CA120919

Mutation:InframeDelins

CAID:CA255065

CAID:CA414908197

DiseaseSeverity:MildHemophiliaA

CAID:CA414919965

CAID:CA414917990

CAID:CA255152

CAID:CA255138

ParentalTest:Unknown

Mutation:Large

CAID:CA255115

CAID:CA414911240

inferred_gene_hgnc:3546

CAID:CA414911251

CAID:CA255089

CAID:CA414919724

CAID:CA255109

DiseaseEntity:FactorVIIIDeficiency

DiseaseSeverity:SevereHemophiliaA

Zygosity:NoZygosityAssertion

CAID:CA414909064

ClinGen Coag Fac Def VCEP

CAID:CA414919454

CAID:CA414908999

CAID:CA414904142

CAID:CA414911721

Gene:F8

CAID:CA255151

DiseaseEntity:FactorIXDeficiency

CAID:CA414919676

CAID:CA414915839

CAID:CA414910251

CAID:CA414920432

CaseInfo

CAID:CA255162

CAID:CA414916134

PreviousTesting:None

CAID:CA255146

CAID:CA414905715

CAID:CA414904092

CAID:CA414908131

UnregisteredVariant

CAID:CA337334224

CAID:CA255135

CAID:CA414910786

DiseaseSeverity:ModerateHemophiliaA

inferred_gene_source:hgnc_tag

CAID:CA414914974

CAID:CA414911024

CAID:CA645292749

CAID:CA337337669

ToCheck

CAID:CA414912862

CAID:CA414920117

CAID:CA255095

CAID:CA255197

CAID:CA414911087

CAID:CA414920251

CAID:CA414917829

CAID:CA414919550

Mutation:Missense

CAID:CA255129

CAID:CA414904604

Annotators

ClingenBaseline

URL

www-thieme-connect-de.libproxy.lib.unc.edu/media/10.1055-s-00035024/202105/supmat/10-1055-s-0040-1721385-s200426.pdf
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu

Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family

1
1. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  Today, the Danish family consists of 275 known persons, all of whom are the offspring of six original proband siblings born in the middle of the nineteenth century ( Fig 1); at present, 28 living cases of mild haemophilia are known in the family. A cousin-to-cousin marriage of an affected male haemophiliac and an obligate carrier resulted in four sisters homozygous for the haemophilic mutation.
  
  Case#: 8, male
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Proband's mother and sister are confirmed carriers of hemophilia
  
  ParentalTesting: Mother was tested and found to be a carrier of hemophilia
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 5% < FVIII:C < 40%, FVIII:Ag = 25%, assay discrepancy present (OSA>CSA)
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: For exons 1–13 and 15–26, PCR primers were designed for denaturing gradient gel electrophoresis (DGGE) and exon 14 was amplified in four overlapping fragments and subsequently sequenced. VWF:Ag was tested and found to be within normal ranges.
  
  Gene: F8
  
  Variant: NM_000132.3:c.694A>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919124
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA>CSA Mutation:Missense InheritancePattern:Xlinked Zygosity:NoZygosityAssertion PreviousTesting:Additional FVIIItesting:Full ParentalTest:Mother FamilyInfo CAID:CA414919124 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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Inhibitor:NotReported

inferred_gene_source:hgnc_tag

HGNC:3546

FVIIItesting:Full

FamilyInfo

AssayDiscrepancy:OSA>CSA

PreviousTesting:Additional

inferred_gene_hgnc:3546

CaseInfo

DiseaseEntity:FactorVIIIDeficiency

Zygosity:NoZygosityAssertion

ParentalTest:Mother

ClinGen Coag Fac Def VCEP

CAID:CA414919124

InheritancePattern:Xlinked

Mutation:Missense

DiseaseSeverity:MildHemophiliaA

Gene:F8

Annotators

ClingenBaseline

URL

onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1046/j.1365-2141.2000.02021.x
oce-ovid-com.libproxy.lib.unc.edu oce-ovid-com.libproxy.lib.unc.edu

A novel missense mutation in F9 gene causes hemophilia B in a family with clinical variability

1
1. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  Fig. 1
  
  Case#: 12 year old male
  
  DiseaseAssertion: Hemophilia B, moderate
  
  FamilyInfo: Mother was a carrier. Maternal uncle has the same hemizygous mutation
  
  ParentalTesting: Family Pedigree reveals that the mother was a carrier of the variant identified in the proband
  
  CasePresentingHPOs: HP:0011858, HP:0030839
  
  CaseHPOFreeText: FIX:C = 1%, proband had a history of soft tissue hemorrhages since 7 years of age
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: Direct nucleotide sequencing was completed
  
  Gene: F9
  
  Variant: NM_000133.3:c.157G>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414435729
  
  gnomAD:
  
  DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense Zygosity:Hemizygous PreviousTesting:Additional FIXtesting:Partial ParentalTest:Both FamilyInfo Gene:F9 HGNC:3551 CAID:CA414435729 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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Tags

HGNC:3551

DiseaseEntity:FactorIXDeficiency

Inhibitor:NotReported

inferred_gene_source:hgnc_tag

inferred_gene_hgnc:3551

ParentalTest:Both

FamilyInfo

AssayDiscrepancy:NotReported

PreviousTesting:Additional

Gene:F9

CAID:CA414435729

FIXtesting:Partial

ClinGen Coag Fac Def VCEP

DiseaseSeverity:ModerateHemophiliaB

Zygosity:Hemizygous

Mutation:Missense

Annotators

ClingenBaseline

URL

oce-ovid-com.libproxy.lib.unc.edu/article/00001721-202003000-00002/HTML
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu

Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954 → Leu substitution in the factor VIII A3 domain

1
1. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  The patient was born in 1944; at the age of 7 he underwent a tonsillectomy, bled excessively and required a blood transfusion. He had dental extractions when he was 14 and bled for a week afterwards. At 25 he had a birthmark removed from his left shoulder and again bled excessively. At that time two-stage FVIII:C assays were performed and he was diagnosed as having mild haemophilia A with a FVIII:C level of 19%. 3 years later (in 1972) he presented with a large haematoma of the buttock after minor trauma and a two-stage assay reported a FVIII:C level of 11%. Interestingly, his APTT was always normal. In 1977 he had sebaceous cysts removed under the cover of FVIII concentrate. He received further concentrate in 1982 following an injury to his left thigh and 6 weeks later developed hepatitis (in retrospect hepatitis C). He has not had any further bleeding problems. At a recent routine visit his baseline FVIII:C level was checked with our (now routine) one-stage assay and found to be normal. Subsequently on three blood samples taken on different days we obtained the assay results shown in Table I. On the second of these samples the factor VIII antigen was measured by Immunozym ELISA (Techniclone, Dorking) and found to be 82 iu/dl.
  
  Case#: 77 year old male*
  
  DiseaseAssertion:Hemophilia A, mild
  
  FamilyInfo: Brother does not have hemophilia
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 5% < FVIII:C < 40%, assay discrepancy present (OSA>CSA)
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The factor VIII coding region was amplified into six overlapping segments from traces of mRNA and from genomic DNA and subsequently sequenced
  
  Gene: F8
  
  Variant: NM_000132.3:c.5918A>T
  
  LegacyVariant:
  
  ClinVar:
  
  CAID: CA414905984
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA>CSA PreviousTesting:None ParentalTest:Unknown InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA414905984 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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Tags

Inhibitor:NotReported

inferred_gene_source:hgnc_tag

HGNC:3546

FVIIItesting:Full

CAID:CA414905984

AssayDiscrepancy:OSA>CSA

ParentalTest:Unknown

inferred_gene_hgnc:3546

CaseInfo

InheritancePattern:NoInheritanceAssertion

DiseaseEntity:FactorVIIIDeficiency

Zygosity:NoZygosityAssertion

PreviousTesting:None

ClinGen Coag Fac Def VCEP

Mutation:Missense

DiseaseSeverity:MildHemophiliaA

Gene:F8

Annotators

ClingenBaseline

URL

onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1046/j.1365-2141.1999.01460.x

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