Hypothesis

142 Matching Annotations

Oct 2026
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hae14141-sup-0001-tables1.pdf

141
1. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  141
  
  Case#: 141, male, 59 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.dup exons2_18, NM_000132.3:c.dup exons23_26
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large ParentalConfirmation:Maternity SupplementalData MultipleGeneVariants ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
2. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  4
  
  Case#: 4, male, 7 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.741G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919022
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Nonsense Zygosity:Hemizygous FIXtesting:Partial ParentalConfirmation:Maternity CAID:CA414919022 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
3. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  125
  
  Case#: 125, male, 20 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.579_582dup
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
4. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  137
  
  Case#: 137, male, 23 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 2.7%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.dup exon15
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large ParentalConfirmation:Maternity SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
5. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  63
  
  Case#: 63, male, 33 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1.8%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.2129G>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414904140
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414904140 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
6. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  66
  
  Case#: 66, male, 16 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 11.8%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.2167G>A
  
  LegacyVariant:
  
  ClinVar: 10246
  
  CAID: CA255138
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA255138 ClinVarID:10246 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
7. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  15
  
  Case#: 15, male, 11 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.2275A>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414902563
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense ParentalConfirmation:Maternity CAID:CA414902563 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
8. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  148
  
  Case#: 148, male, 8 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1282_1298delAGTCAATATTTGAACAA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
9. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  154
  
  Case#: 154, male, 27 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 4.6%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.3413delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
10. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  43
  
  Case#: 43, male, 22 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.902G>A
  
  LegacyVariant:
  
  ClinVar: 10192
  
  CAID: CA255079
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA255079 ClinVarID:10192 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
11. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  177
  
  Case#: 177, male, 41 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.del exons7_11
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large ParentalConfirmation:Maternity SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
12. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  47
  
  Case#: 47, male, 19 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1241A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414915839
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414915839 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
13. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  90
  
  Case#: 90, male, 12 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6406G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414899430
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414899430 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
14. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  159
  
  Case#: 159, male, 11 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 12%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
15. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  85
  
  Case#: 85, male, 31 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 9%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6103G>A
  
  LegacyVariant:
  
  ClinVar: 381561
  
  CAID: CA16609159
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA16609159 ClinVarID:381561 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
16. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  49
  
  Case#: 49, male, 56 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 5.1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1660A>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414911810
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414911810 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
17. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  168
  
  Case#: 168, male, 7 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1.6%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5480delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
18. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  105
  
  Case#: 105, male, 8 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 49%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6683G>A
  
  LegacyVariant:
  
  ClinVar: 10098
  
  CAID: CA255016
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA255016 ClinVarID:10098 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
19. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  98
  
  Case#: 98, male, 31 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1.7%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6544C>T
  
  LegacyVariant:
  
  ClinVar: 10321
  
  CAID: CA255214
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA255214 ClinVarID:10321 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
20. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  163
  
  Case#: 163, male, 30 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.3931_3932delinsTTT
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
21. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  91
  
  Case#: 91, male, 7 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 22%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6437T>C
  
  LegacyVariant:
  
  ClinVar: 627110
  
  CAID: CA414908033
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414908033 ClinVarID:627110 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
22. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  129
  
  Case#: 129, male, 20 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637dupA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA10568191
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA10568191 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
23. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  118
  
  Case#: 118, male, 55 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1.3%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5219+3A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA873340051
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Splice ParentalConfirmation:Maternity SupplementalData CAID:CA873340051 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
24. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  71
  
  Case#: 71, male, 6 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 4.2%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5398C>T
  
  LegacyVariant:
  
  ClinVar: 10275
  
  CAID: CA255163
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA255163 ClinVarID:10275 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
25. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  112
  
  Case#: 112, male, 31 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1.8%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.265_265+1dup
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Splice ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
26. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  124
  
  Case#: 124, male, 17 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.14dupT
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
27. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  102
  
  Case#: 102, male, 17 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 65.7%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6617A>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414906010
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414906010 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
28. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  32
  
  Case#: 32, male, 18 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.362G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919924
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414919924 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
29. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  37
  
  Case#: 37, male, 53 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.397T>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919824
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414919824 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
30. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  184
  
  Case#: 184, male, 6 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 5.1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.del exon26
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large ParentalConfirmation:Maternity SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
31. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  109
  
  Case#: 109, male, 29 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6967C>T
  
  LegacyVariant:
  
  ClinVar: 10333
  
  CAID: CA255225
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA255225 ClinVarID:10333 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
32. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  14
  
  Case#: 14, male, 10 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1990C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414909465
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense ParentalConfirmation:Maternity CAID:CA414909465 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
33. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  8
  
  Case#: 8, male, 11 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1063C>T
  
  LegacyVariant:
  
  ClinVar: 10139
  
  CAID: CA255031
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial ParentalConfirmation:Maternity Mutation:Nonsense CAID:CA255031 ClinVarID:10139 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
34. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  181
  
  Case#: 181, male, 42 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.del exons14_26
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large ParentalConfirmation:Maternity SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
35. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  17
  
  Case#: 17, male, 10 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.2404C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414901774
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense ParentalConfirmation:Maternity CAID:CA414901774 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
36. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  140
  
  Case#: 140, male, 12 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.dup exons1_22
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large ParentalConfirmation:Maternity SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
37. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  153
  
  Case#: 153, male, 52 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.3409_3410delCT
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
38. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  176
  
  Case#: 176, male, 18 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.del exon6
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large ParentalConfirmation:Maternity SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
39. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  89
  
  Case#: 89, male, 36 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6406G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414899430
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414899430 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
40. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  136
  
  Case#: 136, male, 20 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.dup exon14
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large ParentalConfirmation:Maternity SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
41. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  162
  
  Case#: 162, male, 27 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
42. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  30
  
  Case#: 30, male, 27 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 4.1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.361G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919926
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414919926 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
43. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  81
  
  Case#: 81, male, 19 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 7.1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5707G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414907751
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414907751 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
44. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  158
  
  Case#: 158, male, 7 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 14.3%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
45. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  46
  
  Case#: 46, male, 21 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 2.3%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1172G>A
  
  LegacyVariant:
  
  ClinVar: 10111
  
  CAID: CA120918
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA120918 ClinVarID:10111 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
46. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  70
  
  Case#: 70, male, 16 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 3%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5398C>T
  
  LegacyVariant:
  
  ClinVar: 10275
  
  CAID: CA255163
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA255163 ClinVarID:10275 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
47. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  31
  
  Case#: 31, male, 41 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.361G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919926
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414919926 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
48. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  133
  
  Case#: 133, male, 59 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.4599_4600dup
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
49. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  21
  
  Case#: 21, male, 16 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6403C>T
  
  LegacyVariant:
  
  ClinVar: 10088
  
  CAID: CA255011
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense ParentalConfirmation:Maternity CAID:CA255011 ClinVarID:10088 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
50. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  94
  
  Case#: 94, male, 8 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 8.5%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6448G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414907951
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaB Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414907951 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
51. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  3
  
  Case#: 3, male, 39 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 2%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.616G>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919319
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Nonsense Zygosity:Hemizygous FIXtesting:Partial ParentalConfirmation:Maternity CAID:CA414919319 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
52. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  97
  
  Case#: 97, male, 66 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 2%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6517A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414907348
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414907348 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
53. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  117
  
  Case#: 117, male, 8 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5219+1G>A
  
  LegacyVariant:
  
  ClinVar: 993734
  
  CAID: CA414913420
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Splice ParentalConfirmation:Maternity SupplementalData CAID:CA414913420 ClinVarID:993734 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
54. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  152
  
  Case#: 152, male, 27 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 3.6%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.2777delC
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
55. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  123
  
  Case#: 123, male, 7 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6273+1G>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414902680
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Splice ParentalConfirmation:Maternity SupplementalData CAID:CA414902680 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
56. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  175
  
  Case#: 175, male, 32 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1.4%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.del exons5_6
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large ParentalConfirmation:Maternity SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
57. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  183
  
  Case#: 183, male, 38 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.del exons15_26
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large ParentalConfirmation:Maternity SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
58. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  101
  
  Case#: 101, male, 7 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 3%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6611T>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414906072
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414906072 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
59. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  73
  
  Case#: 73, male, 67 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 6%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5422C>T
  
  LegacyVariant:
  
  ClinVar: 10278
  
  CAID: CA255166
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA255166 ClinVarID:10278 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
60. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  164
  
  Case#: 164, male, 43 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.4339delG
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA873341376
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA873341376 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
61. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  24
  
  Case#: 24, male, 8 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6666G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414905572
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense ParentalConfirmation:Maternity CAID:CA414905572 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
62. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  42
  
  Case#: 42, male, 24 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1.2%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.901C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414917990
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414917990 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
63. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  166
  
  Case#: 166, male, 12 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.4379delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255151
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA255151 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
64. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  26
  
  Case#: 26, male, 13 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6976C>T
  
  LegacyVariant:
  
  ClinVar: 10085
  
  CAID: CA255007
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense ParentalConfirmation:Maternity CAID:CA255007 ClinVarID:10085 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
65. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  36
  
  Case#: 36, male, 10 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.387G>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919866
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414919866 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
66. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  115
  
  Case#: 115, male, 37 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1271+1G>A
  
  LegacyVariant:
  
  ClinVar: 811704
  
  CAID: CA414915622
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Splice ParentalConfirmation:Maternity SupplementalData CAID:CA414915622 ClinVarID:811704 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
67. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  16
  
  Case#: 16, male, 22 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.2404C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414901774
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense ParentalConfirmation:Maternity CAID:CA414901774 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
68. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  161
  
  Case#: 161, male, 8 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1.5%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
69. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  88
  
  Case#: 88, male, 29 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 2%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6406G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414899430
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414899430 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
70. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  80
  
  Case#: 80, male, 52 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 10.9%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5707G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414907751
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414907751 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
71. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  56
  
  Case#: 56, male, 12 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 29%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1834C>T
  
  LegacyVariant:
  
  ClinVar: 10236
  
  CAID: CA255129
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA255129 ClinVarID:10236 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
72. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  69
  
  Case#: 69, male, 11 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1.1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5321A>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414910719
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414910719 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
73. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  34
  
  Case#: 34, male, 25 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.382T>C
  
  LegacyVariant:
  
  ClinVar: 811825
  
  CAID: CA414919878
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414919878 ClinVarID:811825 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
74. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  75
  
  Case#: 75, male, 14 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 16.5%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5545T>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414908552
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414908552 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
75. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  179
  
  Case#: 179, male, 11 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.del exon14
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large ParentalConfirmation:Maternity SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
76. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  146
  
  Case#: 146, male, 13 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.209_212delTTGT
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255050
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA255050 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
77. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  132
  
  Case#: 132, male, 28 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 2.7%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.4379dupA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA645292749
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA645292749 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
78. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  7
  
  Case#: 7, male, 8 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1063C>T
  
  LegacyVariant:
  
  ClinVar: 10139
  
  CAID: CA255031
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial ParentalConfirmation:Maternity Mutation:Nonsense CAID:CA255031 ClinVarID:10139 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
79. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  45
  
  Case#: 45, male, 75 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 6.5%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1172G>A
  
  LegacyVariant:
  
  ClinVar: 10111
  
  CAID: CA120918
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA120918 ClinVarID:10111 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
80. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  157
  
  Case#: 157, male, 30 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1.2%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
81. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  1
  
  Case#: 1, male, 30 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.36C>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414920668
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Nonsense Zygosity:Hemizygous ParentalConfirmation:Maternity CAID:CA414920668 SupplementalData FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
82. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  84
  
  Case#: 84, male, 48 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5821A>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414906679
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414906679 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
83. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  20
  
  Case#: 20, male, 36 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5953C>T
  
  LegacyVariant:
  
  ClinVar: 10300
  
  CAID: CA255191
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense ParentalConfirmation:Maternity CAID:CA255191 ClinVarID:10300 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
84. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  52
  
  Case#: 52, male, 13 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1809C>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414910951
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity DiseaseEntity:FactorVIIIDeficiency CAID:CA414910951 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
85. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  151
  
  Case#: 151, male, 17 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.2621delT
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
86. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  41
  
  Case#: 41, male, 20 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 5%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.881C>T
  
  LegacyVariant:
  
  ClinVar: 10190
  
  CAID: CA255077
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA255077 ClinVarID:10190 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
87. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  111
  
  Case#: 111, male, 31 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.144-2A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414920419
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Splice ParentalConfirmation:Maternity SupplementalData CAID:CA414920419 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
88. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  39
  
  Case#: 39, male, 25 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.677G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919166
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414919166 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
89. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  107
  
  Case#: 107, male, 7 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 9.3%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6814A>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414903910
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414903910 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
90. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  174
  
  Case#: 174, male, 25 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.del exons1_26
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large ParentalConfirmation:Maternity SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
91. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  93
  
  Case#: 93, male, 45 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 18%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6444T>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414907970
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414907970 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
92. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  165
  
  Case#: 165, male, 28 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 3.6%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.4339delG
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA873341376
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA873341376 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
93. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  122
  
  Case#: 122, male, 33 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6115+1G>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414904456
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Splice ParentalConfirmation:Maternity SupplementalData CAID:CA414904456 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
94. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  170
  
  Case#: 170, male, 42 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6876_6877delCT
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA873368227
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA873368227 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
95. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  100
  
  Case#: 100, male, 15 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 3.2%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6551A>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414907026
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414907026 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
96. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  74
  
  Case#: 74, male, 60 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 11%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5545T>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414908552
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414908552 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
97. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  87
  
  Case#: 87, male, 11 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 3.9%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6406G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414899430
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414899430 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
98. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  120
  
  Case#: 120, male, 51 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5220-2A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414911437
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Splice ParentalConfirmation:Maternity SupplementalData CAID:CA414911437 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
99. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  104
  
  Case#: 104, male, 13 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 2%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6683G>A
  
  LegacyVariant:
  
  ClinVar: 10098
  
  CAID: CA255016
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA255016 ClinVarID:10098 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
100. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  138
  
  Case#: 138, male, 9 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.dup exons23_25
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large ParentalConfirmation:Maternity SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
101. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  79
  
  Case#: 79, male, 8 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5594A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414908275
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414908275 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
102. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  12
  
  Case#: 12, male, 7 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1798G>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414911019
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense ParentalConfirmation:Maternity CAID:CA414911019 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
103. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  114
  
  Case#: 114, male, 16 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 3%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.601+1G>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919361
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Splice ParentalConfirmation:Maternity SupplementalData CAID:CA414919361 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
104. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  5
  
  Case#: 5, male, 9 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.741G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919022
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial ParentalConfirmation:Maternity Mutation:Nonsense CAID:CA414919022 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
105. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  64
  
  Case#: 64, male, 6 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.2158G>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414903786
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414903786 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
106. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  23
  
  Case#: 23, male, 21 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 2%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6496C>T
  
  LegacyVariant:
  
  ClinVar: 10096
  
  CAID: CA255013
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense ParentalConfirmation:Maternity CAID:CA255013 ClinVarID:10096 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
107. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  92
  
  Case#: 92, male, 61 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 4.2%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6440G>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414908004
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414908004 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
108. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  106
  
  Case#: 106, male, 12 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6683G>A
  
  LegacyVariant:
  
  ClinVar: 10098
  
  CAID: CA255016
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA255016 ClinVarID:10098 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
109. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  54
  
  Case#: 54, male, 9 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 17%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1834C>T
  
  LegacyVariant:
  
  ClinVar: 10236
  
  CAID: CA255129
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA255129 ClinVarID:10236 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
110. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  83
  
  Case#: 83, male, 17 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5816C>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414906727
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity Inhibitor:Present SupplementalData CAID:CA414906727 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
111. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  96
  
  Case#: 96, male, 55 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1.2%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6515C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414907354
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414907354 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
112. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  145
  
  Case#: 145, male, 35 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.205_206delCT
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA873358609
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA873358609 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
113. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  150
  
  Case#: 150, male, 32 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1786delT
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
114. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  156
  
  Case#: 156, male, 23 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
115. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  126
  
  Case#: 126, male, 33 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 7.9%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.2133_2134insT
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
116. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  38
  
  Case#: 38, male, 10 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 13%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.530A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919515
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414919515 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
117. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  57
  
  Case#: 57, male, 9 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 2%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1909A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414909856
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414909856 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
118. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  119
  
  Case#: 119, male, 10 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 3.3%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5219+3A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA873340051
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Splice ParentalConfirmation:Maternity SupplementalData CAID:CA873340051 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
119. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  35
  
  Case#: 35, male, 19 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.385G>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919872
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414919872 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
120. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  155
  
  Case#: 155, male, 27 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1.4%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
121. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  28
  
  Case#: 28, male, 55 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.301G>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414920057
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414920057 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
122. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  51
  
  Case#: 51, male, 8 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 22%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1758G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414911269
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414911269 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
123. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  67
  
  Case#: 67, male, 30 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 8.5%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.2167G>A
  
  LegacyVariant:
  
  ClinVar: 10246
  
  CAID: CA255138
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA255138 ClinVarID:10246 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
124. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  169
  
  Case#: 169, male, 25 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6254delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
125. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  78
  
  Case#: 78, male, 44 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 21%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5558C>T
  
  LegacyVariant:
  
  ClinVar: 10284
  
  CAID: CA255174
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA255174 ClinVarID:10284 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
126. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  149
  
  Case#: 149, male, 37 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 2.1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1780delC
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
127. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  116
  
  Case#: 116, male, 29 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1443+2T>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414914230
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Splice ParentalConfirmation:Maternity SupplementalData CAID:CA414914230 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
128. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  173
  
  Case#: 173, male, 21 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.del exons1_26
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large ParentalConfirmation:Maternity SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
129. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  135
  
  Case#: 135, male, 54 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5961dupA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA645251974
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA645251974 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
130. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  82
  
  Case#: 82, male, 38 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5720G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414907651
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414907651 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
131. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  55
  
  Case#: 55, male, 36 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 17%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1834C>T
  
  LegacyVariant:
  
  ClinVar: 10236
  
  CAID: CA255129
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA255129 ClinVarID:10236 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
132. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  144
  
  Case#: 144, male, 14 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1.1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.4320_4325delTAGAAA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
133. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  160
  
  Case#: 160, male, 16 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637delA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255146
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
134. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  185
  
  Case#: 185, male, 29 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.del exon26
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large ParentalConfirmation:Maternity SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
135. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  110
  
  Case#: 110, male, 9 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.7021G>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414896760
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414896760 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
136. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  130
  
  Case#: 130, male, 16 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 17.5%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.3802dupC
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
137. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  50
  
  Case#: 50, male, 50 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 16.3%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1745G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414911614
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414911614 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
138. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  33
  
  Case#: 33, male, 25 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 3.8%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.382T>C
  
  LegacyVariant:
  
  ClinVar: 811825
  
  CAID: CA414919878
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414919878 ClinVarID:811825 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
139. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  113
  
  Case#: 113, male, 27 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.388+5G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA873357439
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Splice ParentalConfirmation:Maternity SupplementalData CAID:CA873357439 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
140. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  72
  
  Case#: 72, male, 31 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 4.6%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5399G>A
  
  LegacyVariant:
  
  ClinVar: 10274
  
  CAID: CA255162
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA255162 ClinVarID:10274 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
141. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  44
  
  Case#: 44, male, 9 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: Maternity confirmed
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1.7%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1171C>T
  
  LegacyVariant:
  
  ClinVar: 10125
  
  CAID: CA255026
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Full Mutation:Missense ParentalConfirmation:Maternity CAID:CA255026 ClinVarID:10125 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

FVIIItesting:Partial

Mutation:Nonsense

CAID:CA255077

HGNC:3546

CAID:CA414919319

ClinVarID:10111

CAID:CA414906010

CAID:CA120918

CAID:CA414919361

CAID:CA255011

AssayDiscrepancy:NotReported

CAID:CA414910719

CAID:CA255031

InheritancePattern:NoInheritanceAssertion

SupplementalData

CAID:CA255163

CAID:CA255166

CAID:CA873341376

CAID:CA414904140

FIXtesting:Full

CAID:CA255007

DiseaseSeverity:MildHemophiliaA

Inhibitor:Present

CAID:CA414917990

CAID:CA414919022

CAID:CA255138

CAID:CA414902563

CAID:CA414901774

CAID:CA414906679

CAID:CA414919166

DiseaseSeverity:SevereHemophiliaB

CAID:CA414903910

CAID:CA414908004

CAID:CA414911019

ParentalTest:Unknown

Mutation:Large

ClinVarID:10098

ClinVarID:10139

CAID:CA414907026

CAID:CA873357439

inferred_gene_hgnc:3546

CAID:CA414905572

ClinVarID:811704

CAID:CA255050

CAID:CA255225

ClinVarID:10321

CAID:CA255174

FIXtesting:Partial

DiseaseEntity:FactorVIIIDeficiency

DiseaseSeverity:SevereHemophiliaA

CAID:CA414913420

CAID:CA414911437

ClinGen Coag Fac Def VCEP

CAID:CA414911810

CAID:CA414908552

CAID:CA414920668

CAID:CA414919872

CAID:CA414914230

ClinVarID:10096

CAID:CA414906727

CAID:CA414907354

CAID:CA414902680

CAID:CA255079

ClinVarID:381561

Gene:F8

CAID:CA414907951

CAID:CA255151

CAID:CA414904456

CAID:CA414908275

CAID:CA873358609

CAID:CA414915839

CAID:CA414906072

CAID:CA414920057

ClinVarID:10274

CAID:CA414899430

CAID:CA255013

CAID:CA255191

CAID:CA255026

CAID:CA414909856

ClinVarID:10236

CaseInfo

CAID:CA414915622

CAID:CA414907348

CAID:CA255162

ClinVarID:627110

PreviousTesting:None

CAID:CA414919515

CAID:CA10568191

CAID:CA255214

ClinVarID:10190

CAID:CA255146

ClinVarID:10278

CAID:CA414907751

Mutation:Frameshift

CAID:CA873340051

UnregisteredVariant

Mutation:Splice

ClinVarID:811825

ClinVarID:10125

ClinVarID:10333

CAID:CA414920419

CAID:CA414919878

DiseaseSeverity:ModerateHemophiliaA

inferred_gene_source:hgnc_tag

CAID:CA414910951

ClinVarID:10192

CAID:CA414907970

ClinVarID:10085

CAID:CA414896760

CAID:CA645292749

ToCheck

ParentalConfirmation:Maternity

CAID:CA414911269

Inhibitor:Absent

CAID:CA414919924

ClinVarID:10246

ClinVarID:993734

MultipleGeneVariants

ClinVarID:10300

CAID:CA414908033

ClinVarID:10088

CAID:CA414907651

Zygosity:Hemizygous

CAID:CA414919866

CAID:CA873368227

Mutation:Missense

CAID:CA16609159

CAID:CA255129

ClinVarID:10284

CAID:CA645251974

CAID:CA414919926

ClinVarID:10275

CAID:CA414909465

CAID:CA414903786

CAID:CA414911614

CAID:CA414919824

CAID:CA255016

Annotators

ClingenBaseline

URL

onlinelibrary.wiley.com/action/downloadSupplement
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Genetic analysis of a hemophilia B family with a novel F9 gene mutation: A STROBE-compliant article

1
1. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  3-year-old boy
  
  Case1: 3-year-old boy
  
  DiseaseAssertion: Severe Hemophilia B
  
  FamilyInfo: The pathogenic mutation of F9 gene in this family was identified, Mother and Grandmother are HB carriers, Father tested negative. Pedigree shown in Figure 1.
  
  ParentalTesting: Sequences at the mutation locus in F9 genes were analyzed by Sanger sequencing.
  
  CasePresentingHPOs: NA
  
  CaseHPOFreeText: Hemorrhagic spots on his skin at birth, Gingival bleeding, APTT 66.5 s, FIX:C < 1%, FVIII:C 116.8%
  
  CasePreviousTesting: PCR amplification for coding and flanking sequences of F9 gene, PCR amplification products sequenced by Songon Biotech Co. Ltd.
  
  Gene: F9
  
  Variant: NM_000133.3:c.1232G>C (p.Ser411Thr)
  
  ClinVar: NA
  
  CAID: CA414446686
  
  gnomAD: NA
  
  CaseInfo FamilyInfo Gene:F9 HGNC:3551 DiseaseEntity:FactorIXDeficiency InheritancePattern:Xlinked Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414446686 FIXtesting:Partial ParentalTest:Both ParentalConfirmation:Maternity inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

HGNC:3551

DiseaseEntity:FactorIXDeficiency

FIXtesting:Partial

Zygosity:NoZygosityAssertion

inferred_gene_source:hgnc_tag

ClinGen Coag Fac Def VCEP

inferred_gene_hgnc:3551

InheritancePattern:Xlinked

FamilyInfo

ParentalTest:Both

ParentalConfirmation:Maternity

Mutation:Missense

Gene:F9

CAID:CA414446686

CaseInfo

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC6571360/

Tags

Annotators

URL

Tags

Annotators

URL