Hypothesis

319 Matching Annotations

Oct 2026
www-thieme-connect-com.libproxy.lib.unc.edu www-thieme-connect-com.libproxy.lib.unc.edu

Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes

9
1. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  c.706G>C
  
  Case#: 46
  
  DiseaseAssertion: Hemophilia B
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: NA
  
  CaseHPOFreeText: FIX:C 4% (Moderate Phenotype)
  
  CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.706G>C (p.Gly236Arg)
  
  ClinVar: NA
  
  CAID: CA414441294
  
  gnomAD: Not reported
  
  InheritancePattern:NoInheritanceAssertion Mutation:Missense CAID:CA414441294 DiseaseEntity:FactorIXDeficiency FIXtesting:Partial ParentalTest:Unknown Zygosity:NoZygosityAssertion CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
2. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  c.95T>C
  
  Case#: 39
  
  DiseaseAssertion: Hemophilia B
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: NA
  
  CaseHPOFreeText: FIX:C 19% (Mild Phenotype)
  
  CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.95T>C (p.Leu32Pro)
  
  ClinVar: NA
  
  CAID: CA414435358
  
  gnomAD: Not reported
  
  DiseaseEntity:FactorIXDeficiency InheritancePattern:NoInheritanceAssertion Mutation:Missense ParentalTest:Unknown FIXtesting:Partial CAID:CA414435358 Zygosity:NoZygosityAssertion CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
3. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  c.1345C>T
  
  Case#: 43
  
  DiseaseAssertion: Hemophilia B
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: NA
  
  CaseHPOFreeText: FIX:C 30% (Mild Phenotype)
  
  CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing
  
  Gene: F9
  
  Variant: NM_000133.3(F9):c.1345C>T (p.Arg449Trp)
  
  ClinVar: 626990 https://www.ncbi.nlm.nih.gov/clinvar/variation/626990/
  
  CAID: CA10529890
  
  gnomAD: MAF for Arg449Trp in the European (non-Finnish) population 0.00006494<br>https://gnomad.broadinstitute.org/variant/X-138644189-C-T?dataset=gnomad_r2_1
  
  ClinVarID:626990 CAID:CA10529890 DiseaseEntity:FactorIXDeficiency InheritancePattern:NoInheritanceAssertion FIXtesting:Partial ParentalTest:Unknown Zygosity:NoZygosityAssertion Mutation:Missense CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
4. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  c.1274T>A
  
  Case#: 42
  
  DiseaseAssertion: Hemophilia B
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: NA
  
  CaseHPOFreeText: FIX:C 10% (Mild Phenotype)
  
  CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.1274T>A (p.Leu425Ter )
  
  ClinVar: NA
  
  CAID: CA414446997
  
  gnomAD: Not reported
  
  CAID:CA414446997 DiseaseEntity:FactorIXDeficiency InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion Mutation:Nonsense FIXtesting:Partial ParentalTest:Unknown CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
5. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  c.689G>A
  
  Case#: 45
  
  DiseaseAssertion: Hemophilia B
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: NA
  
  CaseHPOFreeText: FIX:C 5% (Moderate Phenotype)
  
  CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.689G>A (p.Gly230Glu)
  
  ClinVar: NA
  
  CAID: CA414441179
  
  gnomAD: Not reported
  
  InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414441179 FIXtesting:Partial ParentalTest:Unknown HGNC:3551 CaseInfo Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
6. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  c.1291T>G
  
  Case#: 41
  
  DiseaseAssertion: Hemophilia B
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: NA
  
  CaseHPOFreeText: FIX:C 2/2% (Moderate Phenotype)
  
  CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.1291T>G (p.Trp431Gly)
  
  ClinVar: NA
  
  CAID: CA414447127
  
  gnomAD: Not reported
  
  CAID:CA414447127 Mutation:Missense DiseaseEntity:FactorIXDeficiency InheritancePattern:NoInheritanceAssertion ParentalTest:Unknown Zygosity:NoZygosityAssertion FIXtesting:Partial HGNC:3551 CaseInfo Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
7. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  c.1219T>C
  
  Case#: 40
  
  DiseaseAssertion: Hemophilia B
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: NA
  
  CaseHPOFreeText: FIX:C <1% (Severe Phenotype)
  
  CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.1219T>C (p.Cys407Arg)
  
  ClinVar: NA
  
  CAID: CA414446562
  
  gnomAD: Not reported
  
  CAID:CA414446562 DiseaseEntity:FactorIXDeficiency Mutation:Missense FIXtesting:Partial ParentalTest:Unknown Zygosity:NoZygosityAssertion InheritancePattern:NoInheritanceAssertion HGNC:3551 CaseInfo Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
8. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  c.518C>T
  
  Case#: 43
  
  DiseaseAssertion: Hemophilia B
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: NA
  
  CaseHPOFreeText: FIX:C <1% (Severe Phenotype)
  
  CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.518C>T (p.Ala173Val)
  
  ClinVar: NA
  
  CAID: CA414439510
  
  gnomAD: Not reported
  
  CAID:CA414439510 InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorIXDeficiency Mutation:Missense FIXtesting:Partial Zygosity:NoZygosityAssertion ParentalTest:Unknown CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
9. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  c.422G>A
  
  Case#: 42
  
  DiseaseAssertion: Hemophilia B
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: NA
  
  CaseHPOFreeText: FIX:C 4% (Moderate Phenotype)
  
  CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing
  
  Gene: F9
  
  Variant: NM_000133.4(F9):c.422G>A (p.Cys141Tyr)
  
  ClinVar: 811510 https://www.ncbi.nlm.nih.gov/clinvar/variation/811510/
  
  CAID: CA414438897
  
  gnomAD: Not reported
  
  InheritancePattern:NoInheritanceAssertion Mutation:Missense ClinVarID:811510 CAID:CA414438897 FIXtesting:Partial DiseaseEntity:FactorIXDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

CAID:CA414438897

InheritancePattern:NoInheritanceAssertion

inferred_gene_source:hgnc_tag

HGNC:3551

FIXtesting:Partial

Zygosity:NoZygosityAssertion

ClinVarID:811510

ClinVarID:626990

Mutation:Nonsense

ParentalTest:Unknown

CaseInfo

Mutation:Missense

CAID:CA414441294

CAID:CA414446562

CAID:CA10529890

Gene:F9

DiseaseEntity:FactorIXDeficiency

CAID:CA414441179

CAID:CA414447127

CAID:CA414439510

CAID:CA414446997

inferred_gene_hgnc:3551

ClinGen Coag Fac Def VCEP

CAID:CA414435358

Annotators

ClingenBaseline

URL

www-thieme-connect-com.libproxy.lib.unc.edu/products/ejournals/pdf/10.1160/TH16-05-0375.pdf
onlinelibrary.wiley.com onlinelibrary.wiley.com

hae14141-sup-0001-tables1.pdf

117
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
  
  77
  
  Case#: 77, male, 7 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1.5%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5552G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414908513
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense SupplementalData CAID:CA414908513 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
6. 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
7. 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
8. 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
9. 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
10. 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
11. 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
12. 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
13. 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
14. 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
15. 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
16. 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
17. 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
18. 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
19. 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
20. 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
21. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  172
  
  Case#: 172, male, 32 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.del exons1_25
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
22. 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
23. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  58
  
  Case#: 58, male, 8 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1.1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.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 CAID:CA414909856 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
24. 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
25. 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
26. 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
27. 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
28. 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
29. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  134
  
  Case#: 134, male, 6 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5152_5153insACACTAT
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
30. 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
31. 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
32. 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
33. 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
34. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  143
  
  Case#: 143, male, 19 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 3.1%
  
  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.3144_3145delinsAG
  
  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 SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
35. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  25
  
  Case#: 25, male, 13 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.6976C>T
  
  LegacyVariant:
  
  ClinVar: 10085
  
  CAID: CA255007
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense CAID:CA255007 ClinVarID:10085 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
36. 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
37. 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
38. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  11
  
  Case#: 11, male, 32 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1765A>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414911223
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense CAID:CA414911223 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
39. 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
40. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  76
  
  Case#: 76, male, 30 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5551T>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414908519
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense SupplementalData CAID:CA414908519 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
41. 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
42. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  65
  
  Case#: 65, male, 13 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  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.2167G>A
  
  LegacyVariant:
  
  ClinVar: 10246
  
  CAID: CA255138
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense SupplementalData CAID:CA255138 ClinVarID:10246 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
43. 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
44. 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
45. 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
46. 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
47. 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
48. 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
49. 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
50. 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
51. 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
52. 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
53. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  128
  
  Case#: 128, male, 10 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.3637dupA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA10568191
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift SupplementalData CAID:CA10568191 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
54. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  62
  
  Case#: 62, male, 50 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 38.5%
  
  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.2111C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414908864
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense CAID:CA414908864 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
55. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  147
  
  Case#: 147, male, 22 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1126delG
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
56. 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
57. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  180
  
  Case#: 180, male, 13 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.del exon14
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
58. 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
59. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  167
  
  Case#: 167, male, 18 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: Noted Family History
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.5046delC
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
60. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  53
  
  Case#: 53, male, 21 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 15.9%
  
  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.1834C>T
  
  LegacyVariant:
  
  ClinVar: 10236
  
  CAID: CA255129
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense DiseaseEntity:FactorVIIIDeficiency CAID:CA255129 ClinVarID:10236 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
61. 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
62. 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
63. 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
64. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  171
  
  Case#: 171, male, 7 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.del exons1_14
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
65. 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
66. 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
67. 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
68. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  27
  
  Case#: 27, male, 30 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.266G>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414920127
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ToCheck CAID:CA414920127 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
69. 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
70. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  108
  
  Case#: 108, male, 36 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  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.6870G>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414903147
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense SupplementalData CAID:CA414903147 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
71. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  40
  
  Case#: 40, male, 32 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 24.5%
  
  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.871G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414918134
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense CAID:CA414918134 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
72. 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
73. 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
74. 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
75. 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
76. 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
77. 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
78. 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
79. 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
80. 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
81. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  142
  
  Case#: 142, male, 22 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  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.599_601delAAG
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:InframeDel SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
82. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  10
  
  Case#: 10, male, 9 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  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.1596G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414912044
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense DiseaseEntity:FactorVIIIDeficiency CAID:CA414912044 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
83. 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
84. 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
85. 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
86. 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
87. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  139
  
  Case#: 139, male, 17 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.dup exons7_22
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
88. 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
89. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  13
  
  Case#: 13, male, 24 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1861C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414910596
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense CAID:CA414910596 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
90. 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
91. 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
92. 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
93. 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
94. 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
95. 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
96. 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
97. 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
98. 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
99. 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
100. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  61
  
  Case#: 61, male, 7 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C = 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.2066T>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414909145
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense DiseaseEntity:FactorVIIIDeficiency CAID:CA414909145 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
101. 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
102. 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
103. 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
104. 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
105. 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
106. 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
107. 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
108. 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
109. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  127
  
  Case#: 127, male, 17 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.2945dupA
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255142
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift SupplementalData CAID:CA255142 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
110. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  6
  
  Case#: 6, male, 22 years old, Chinese
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
  
  Gene: F8
  
  Variant: NM_000132.3:c.1063C>T
  
  LegacyVariant:
  
  ClinVar: 10139
  
  CAID: CA255031
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense CAID:CA255031 ClinVarID:10139 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
111. 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
112. 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
113. 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
114. 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
115. 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
116. 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
117. 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
Visit annotations in context

Tags

MultipleGeneVariants

CAID:CA414905572

CAID:CA414919878

CAID:CA414906679

Mutation:InframeDel

ClinVarID:811825

CAID:CA255050

CaseInfo

ClinVarID:381561

Mutation:Large

ClinVarID:627110

CAID:CA414913420

CAID:CA414910951

ClinVarID:10321

ClinVarID:10236

CAID:CA414910596

DiseaseSeverity:MildHemophiliaA

CAID:CA414919319

ParentalConfirmation:Maternity

CAID:CA414920127

CAID:CA414903147

ClinVarID:10246

CAID:CA255163

CAID:CA414912044

CAID:CA414909145

CAID:CA255077

FIXtesting:Partial

CAID:CA255007

CAID:CA414910719

CAID:CA414907970

CAID:CA414908519

CAID:CA414911223

CAID:CA414908552

DiseaseEntity:FactorVIIIDeficiency

ClinVarID:10139

CAID:CA120918

ClinVarID:10300

ClinVarID:10333

CAID:CA414915622

DiseaseSeverity:SevereHemophiliaA

CAID:CA414919022

CAID:CA414901774

CAID:CA255138

Inhibitor:Absent

CAID:CA414907751

CAID:CA255129

CAID:CA255191

CAID:CA414909465

CAID:CA10568191

ClinVarID:10088

CAID:CA255011

CAID:CA645292749

Mutation:Frameshift

ClinVarID:993734

CAID:CA414919926

CAID:CA414903910

ClinVarID:10190

CAID:CA255146

ClinVarID:10085

UnregisteredVariant

CAID:CA414909856

CAID:CA414908864

CAID:CA414907951

CAID:CA414908033

CAID:CA255214

ClinVarID:10275

CAID:CA873340051

CAID:CA414919166

inferred_gene_hgnc:3546

Mutation:Missense

CAID:CA255166

CAID:CA873341376

CAID:CA414919866

CAID:CA414920419

CAID:CA414904140

HGNC:3546

Zygosity:Hemizygous

CAID:CA255151

DiseaseSeverity:SevereHemophiliaB

AssayDiscrepancy:NotReported

CAID:CA255031

ClinVarID:10278

CAID:CA414908513

CAID:CA414915839

ClinVarID:10192

CAID:CA414906010

CAID:CA255142

inferred_gene_source:hgnc_tag

CAID:CA255225

ClinVarID:10098

CAID:CA255079

Mutation:Nonsense

CAID:CA414899430

CAID:CA255016

CAID:CA414907348

CAID:CA414919924

ToCheck

Mutation:Splice

ClinVarID:10111

DiseaseSeverity:ModerateHemophiliaA

CAID:CA414906072

CAID:CA414902563

CAID:CA414911810

CAID:CA16609159

CAID:CA414919824

CAID:CA414917990

Gene:F8

CAID:CA414902680

Inhibitor:Present

CAID:CA414918134

SupplementalData

ClinGen Coag Fac Def VCEP

ClinVarID:811704

Annotators

ClingenBaseline

URL

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

First report on UK database of haemophilia B mutations and pedigrees. UK Haemophilia Centres

1
1. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  mutations
  
  Case#: Saad_Probands 83-85 (assumed male; from UK)
  
  DiseaseAssertion: Saad_Proband 83: Severe Hemophilia B ; Saad_Probands 84-85: Moderate Hemophilia B
  
  FamilyInfo: None
  
  ParentalTesting: N/A
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOsFreeText: reduced factor IX activity (Proband 83: FIX:C: <1, Proband 84: FIX:C 1.6, Proband 85: FIX:C: 4)
  
  CaseNotHPOs: None
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: NM_000133.4:c.127C>T (p.Arg43Trp)
  
  ClinVar: 811505
  
  CAID: CA414435537
  
  gnomAD: Absent/Not Reported
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435537 ParentalTest:Unknown DiseaseSeverity:Moderate DiseaseSeverity:Severe FIXTesting:Partial inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

Mutation:Missense

Gene:F9

DiseaseEntity:FactorIXDeficiency

DiseaseSeverity:Moderate

Zygosity:NoZygosityAssertion

inferred_gene_source:CAID

FIXTesting:Partial

DiseaseSeverity:Severe

InheritancePattern:X-Linked

inferred_gene_hgnc:3551

CAID:CA414435537

ParentalTest:Unknown

ClinGen Coag Fac Def VCEP

CaseInfo

Annotators

ClingenBaseline

URL

pubmed.ncbi.nlm.nih.gov/8091381/
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

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

29
1. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  6.
  
  Case#: 6
  
  DiseaseAssertion: Hemophilia B, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C = 11%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.316G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255329
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:MildHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA255329 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
2. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  27.
  
  Case#: 27
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.1244A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414446777
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414446777 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
3. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  43.
  
  Case#: 43
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.252+2T>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414436438
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Splice Inhibitor:Absent CAID:CA414436438 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
4. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  13.
  
  Case#: 13
  
  DiseaseAssertion: Hemophilia B, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C = 6.6%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.797C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414443482
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent DiseaseSeverity:MildHemophiliaB CAID:CA414443482 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
5. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  34.
  
  Case#: 34
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.223C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA340993
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Nonsense Inhibitor:Absent CAID:CA340993 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
6. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  19.
  
  Case#: 19
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.1129G>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414446072
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414446072 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
7. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  26.
  
  Case#: 26
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.1234G>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414446705
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414446705 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
8. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  42.
  
  Case#: 42
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.252+2T>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414436440
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Splice Inhibitor:Absent CAID:CA414436440 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
9. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  18.
  
  Case#: 18
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.1068G>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414445683
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414445683 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
10. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  33.
  
  Case#: 33
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.103G>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414435383
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Nonsense Inhibitor:Present ToCheck CAID:CA414435383 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
11. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  25.
  
  Case#: 25
  
  DiseaseAssertion: Hemophilia B, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C = 2%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.1204G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414446446
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414446446 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
12. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  12.
  
  Case#: 12
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.761G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414443235
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent DiseaseSeverity:SevereHemophiliaB CAID:CA414443235 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
13. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  5
  
  Case#: 5
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.305G>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414437422
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414437422 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
14. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  41.
  
  Case#: 41
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.1135C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255391
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Nonsense Inhibitor:Absent CAID:CA255391 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
15. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  17.
  
  Case#: 17
  
  DiseaseAssertion: Hemophilia B, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C = 3%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.1025C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255381
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA255381 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
16. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  40.
  
  Case#: 40
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.892C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255370
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Nonsense Inhibitor:Absent CAID:CA255370 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
17. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  4.
  
  Case#: 4
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.160G>C
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414435755
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414435755 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
18. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  24.
  
  Case#: 24
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.1193G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414446384
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414446384 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
19. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  29.
  
  Case#: 29
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.1279G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414447040
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414447040 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
20. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  11.
  
  Case#: 11
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.677G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA121128
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA121128 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
21. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  39.
  
  Case#: 39
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.892C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255370
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Nonsense Inhibitor:Absent CAID:CA255370 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
22. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  32.
  
  Case#: 32
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.1306G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414447233
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414447233 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
23. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  23.
  
  Case#: 23
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.1193G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414446384
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414446384 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
24. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  3.
  
  Case#: 3
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.128G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414435539
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414435539 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
25. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  16.
  
  Case#: 16
  
  DiseaseAssertion: Hemophilia B, mild
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C = 12%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.881G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255368
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:MildHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA255368 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
26. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  10.
  
  Case#: 10
  
  DiseaseAssertion: Hemophilia B, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C = 2.5%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.571C>T
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255340
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA255340 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
27. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  38.
  
  Case#: 38
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.719G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414441403
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Nonsense Inhibitor:Present CAID:CA414441403 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
28. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  31.
  
  Case#: 31
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.1291T>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414447125
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414447125 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
29. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  22
  
  Case#: 22
  
  DiseaseAssertion: Hemophilia B, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOFreeText: FIX:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing
  
  Gene: F9
  
  Variant: NM_000133.3:c.1145G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414446163
  
  gnomAD:
  
  CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414446163 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

CAID:CA414443235

CAID:CA121128

CAID:CA414441403

CAID:CA414443482

CAID:CA414446072

CAID:CA414446163

CaseInfo

CAID:CA255329

Mutation:Missense

CAID:CA414446777

CAID:CA414435539

DiseaseEntity:FactorIXDeficiency

CAID:CA255370

DiseaseSeverity:SevereHemophiliaB

AssayDiscrepancy:NotReported

CAID:CA414436438

CAID:CA414435383

CAID:CA414447040

CAID:CA414436440

DiseaseSeverity:MildHemophiliaB

CAID:CA414435755

Zygosity:NoZygosityAssertion

FIXtesting:Partial

inferred_gene_source:CAID

Mutation:Nonsense

CAID:CA414447233

CAID:CA255368

ToCheck

CAID:CA255391

Mutation:Splice

CAID:CA414446705

CAID:CA414447125

CAID:CA255340

Inhibitor:Absent

CAID:CA414446446

CAID:CA414445683

CAID:CA340993

DiseaseSeverity:ModerateHemophiliaB

inferred_gene_hgnc:3551

CAID:CA255381

Inhibitor:Present

CAID:CA414437422

ClinGen Coag Fac Def VCEP

CAID:CA414446384

Annotators

ClingenBaseline

URL

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

Fast and efficient mutation detection method using multiplex PCR and cycle sequencing--application to haemophilia B

1
1. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  mutation
  
  Case#: Cases 1464
  
  DiseaseAssertion: Familial Severe Hemophilia B
  
  FamilyInfo: In 16 cases, the family pedigree showed more than one affected individual (familial cases) and 12 cases were sporadic. In 17 cases, familial data was not available.
  
  ParentalTesting: N/A
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOsFreeText: reduced factor IX activity (FIX:C: <1)
  
  CaseNotHPOs: N/A
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: NM_000133.4:c.128G>A (p.Arg43Gln)
  
  ClinVar: 810864
  
  CAID: CA414435539
  
  gnomAD: Absent/Not Reported
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414435539 Zygosity:NoZygosityAssertion ParentalTest:Unknown FIXTesting:Partial DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

Mutation:Missense

Gene:F9

DiseaseEntity:FactorIXDeficiency

CAID:CA414435539

Zygosity:NoZygosityAssertion

inferred_gene_source:CAID

FIXTesting:Partial

DiseaseSeverity:Severe

InheritancePattern:X-Linked

inferred_gene_hgnc:3551

ParentalTest:Unknown

ClinGen Coag Fac Def VCEP

CaseInfo

Annotators

ClingenBaseline

URL

pubmed.ncbi.nlm.nih.gov/10739381/
www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu

Untitled document

20
1. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  020–1003
  
  Case#: 020-1003
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
2. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  001–1010
  
  Case#: 001-1010
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.3274_3276delAACinsCC
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FIXtesting:Partial SupplementalData UnregisteredVariant Mutation:InframeDelins ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
3. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  005–1002
  
  Case#: 005-1002
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
4. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  009–1005
  
  Case#: 009-1005
  
  DiseaseAssertion: Hemophilia A,
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C ..., Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency ToCheck Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
5. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  006–1001
  
  Case#: 006-1001
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
6. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  038–1010
  
  Case#: 038-1010
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
7. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  002–1002
  
  Case#: 002-1002
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
8. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  010–1002
  
  Case#: 010-1002
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
9. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  009–1006
  
  Case#: 009-1006
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.822G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255072
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Nonsense FIXtesting:Partial SupplementalData CAID:CA255072 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
10. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  071–1037
  
  Case#: 071-1037
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 1% < FVIII:C < 5%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.3169G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255144
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FIXtesting:Partial SupplementalData CAID:CA255144 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
11. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  001–1038
  
  Case#: 001-1038
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.6065G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414904814
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Missense FIXtesting:Partial SupplementalData CAID:CA414904814 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
12. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  038–1013
  
  Case#: 038-1013
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
13. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  071–1015
  
  Case#: 071-1015
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
14. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  028–1002
  
  Case#: 028-1002
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
15. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  001–1060
  
  Case#: 001-1060
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.686C>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA414919141
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FIXtesting:Partial SupplementalData Mutation:Nonsense CAID:CA414919141 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
16. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  047–1020
  
  Case#: 047-1020
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 1% < FVIII:C < 5%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.3169G>A
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: CA255144
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FIXtesting:Partial SupplementalData CAID:CA255144 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
17. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  071–1036
  
  Case#: 071-1036
  
  DiseaseAssertion: Hemophilia A, moderate
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: 1% < FVIII:C < 5%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
18. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  042–1001
  
  Case#: 042-1001
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant: NM_000132.3:c.2144+2A>G
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Splice FIXtesting:Partial SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
19. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  047–1004
  
  Case#: 047-1004
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
20. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  048–1002
  
  Case#: 048-1002
  
  DiseaseAssertion: Hemophilia A, severe
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0003125
  
  CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
  
  CaseNotHPOs: NA
  
  CaseNotHPOFreeText: NA
  
  CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
  
  Gene: F8
  
  Variant:
  
  LegacyVariant:
  
  ClinVar: No
  
  CAID: No
  
  gnomAD:
  
  CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

CAID:CA255144

Mutation:InframeDelins

UnregisteredVariant

CaseInfo

Mutation:Large

CAID:CA255072

CAID:CA414904814

inferred_gene_hgnc:3546

Mutation:Missense

HGNC:3546

AssayDiscrepancy:NotReported

CAID:CA414919141

inferred_gene_source:hgnc_tag

FIXtesting:Partial

Mutation:Nonsense

DiseaseEntity:FactorVIIIDeficiency

ToCheck

Mutation:Splice

DiseaseSeverity:SevereHemophiliaA

Inhibitor:Absent

DiseaseSeverity:ModerateHemophiliaA

Gene:F8

Inhibitor:Present

SupplementalData

ClinGen Coag Fac Def VCEP

Annotators

ClingenBaseline

URL

www-thieme-connect-de.libproxy.lib.unc.edu/media/10.1055-s-00035024/202105/supmat/10-1055-s-0040-1721385-s200426.pdf
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

ajhg00081-0147.pdf

1
1. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  Cysteine 19--arginine (in patient HB13O) alters thesignal peptide. The factor IX activity (20%) in thepatient record suggests mild disease
  
  Case#: Family HB130
  
  DiseaseAssertion: Mild Hemophilia B
  
  FamilyInfo: N/A
  
  ParentalTesting: N/A
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOsFreeText: reduced factor IX activity (FIX:C : 20%)
  
  CaseNotHPOs: N/A
  
  CasePreviousTesting:
  
  Gene: F9
  
  Variant: NM_000133.4:c.82T>C (p.Cys28Arg)
  
  LegacyVariant: c.111T>C (p.Cys-19Arg)
  
  ClinVar: 10657
  
  CAID: CA255450
  
  gnomAD: Absent/Not Reported
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA255450 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Mild inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

Mutation:Missense

Gene:F9

DiseaseEntity:FactorIXDeficiency

CAID:CA255450

Zygosity:NoZygosityAssertion

inferred_gene_source:CAID

FIXTesting:Partial

inferred_gene_hgnc:3551

InheritancePattern:X-Linked

ParentalTest:Unknown

ClinGen Coag Fac Def VCEP

CaseInfo

DiseaseSeverity:Mild

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC1683181/pdf/ajhg00081-0147.pdf
onlinelibrary.wiley.com onlinelibrary.wiley.com

j.1365-2141.1997.2213036.x.pdf

1
1. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  Ala-10 residue (Ala[GCC) to Val[GCT]
  
  Case#: Oldenburg_Patient_A and Oldenburg_Patient_C
  
  DiseaseAssertion: Mild Hemophilia B (exacerbated due to phenprocoumon administration)
  
  FamilyInfo: The parents of patients A and C emigrated from the same region in North-Eastern Europe (North Poland)
  
  ParentalTesting: N/A
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOsFreeText: reduced factor IX activity, severe bleeding at each oral anticoagulation with phenprocoumon occurrence, bleeding in muscles of the upper leg
  
  CaseNotHPOs: N/A
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: NM_000133.4:c.110C>T (p.Ala37Val)
  
  ClinVar: Absent
  
  CAID: CA414435437
  
  gnomAD: Allele Frequency in European (non-Finnish) population: 0.00002186
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435437 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Mild inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

Mutation:Missense

CAID:CA414435437

Gene:F9

DiseaseEntity:FactorIXDeficiency

Zygosity:NoZygosityAssertion

inferred_gene_source:CAID

FIXTesting:Partial

inferred_gene_hgnc:3551

InheritancePattern:X-Linked

ParentalTest:Unknown

ClinGen Coag Fac Def VCEP

CaseInfo

DiseaseSeverity:Mild

Annotators

ClingenBaseline

URL

onlinelibrary.wiley.com/doi/pdfdirect/10.1046/j.1365-2141.1997.2213036.x
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu

Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B

1
1. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  Leu-23Pro
  
  Case#: HB-KHF-04 (Male, Korean)
  
  DiseaseAssertion: Severe Hemophilia B
  
  FamilyInfo: Among the 33 patients, 13 had a family history (39%), while the rest of the patients did not (sporadic, 61%). 27 patients (82%) had the severe form of the disease, while 6 patients (18%) had the moderate form
  
  ParentalTesting: N/A
  
  CasePresentingHPOs: HP:0003645, HP:0011858
  
  CaseHPOsFreeText: Prolonged partial thromboplastin time, reduced factor IX activity
  
  CaseNotHPOs: None
  
  CasePreviousTesting: aPTT and one-stage clotting assay at labs where patients were ascertained: FIX-deficient plasma (STA®-Deficient IX; Diagnostica Stago, Asnieres-sur-Seine, France; reference range, 60–150%) at Samsung Medical Center or HemosIL™ (Instrumentation Laboratory, Milan, Italy; reference range, 50–145%) at the Korea Hemophilia Foundation.
  
  Gene: F9
  
  Variant: NM_000133.4:c.68T>C (p.Leu23Pro)
  
  ClinVar: Absent
  
  CAID: CA414434403
  
  gnomAD: Absent/Not Reported
  
  Gene:F9 CaseInfo DiseaseEntity:FactorIXDeficiency InheritancePattern:X-Linked Zygosity:NoZygosityAssertion FIXTesting:Partial CAID:CA414434403 ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

Gene:F9

DiseaseEntity:FactorIXDeficiency

CAID:CA414434403

Zygosity:NoZygosityAssertion

inferred_gene_source:CAID

FIXTesting:Partial

DiseaseSeverity:Severe

InheritancePattern:X-Linked

inferred_gene_hgnc:3551

ParentalTest:Unknown

ClinGen Coag Fac Def VCEP

CaseInfo

Annotators

ClingenBaseline

URL

onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2008.01796.x
link-springer-com.libproxy.lib.unc.edu link-springer-com.libproxy.lib.unc.edu

Major bleeding in a patient with warfarin-hypersensitive and factor IX propeptide variant, p.Ala37Thr, who was treated with a direct oral anti-Xa inhibitor

1
1. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  p.Ala37Thr
  
  Case#: Tamura_Case (male, 49 y/o)
  
  DiseaseAssertion: Severe Hemophilia B
  
  FamilyInfo: No family history of stroke, thrombosis or bleeding episodes
  
  ParentalTesting: N/A
  
  CasePresentingHPOs: HP:0012233, HP:0011858
  
  CaseHPOsFreeText: cerebral infarction, prolonged APTT (58.4 s), elevated diluted Russell viper venom time ratio (2.68), and anti-β2 glycoprotein I antibody (9.7 U/mL) and anticardiolipin antibody IgG (39 U/mL), antiphospholipid antibody syndrome (APS), intramuscular hemorrhage, reduced factor IX activity (<0.5%)
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: NM_000133.4:c.109G>A (p.Ala37Thr)
  
  ClinVar: 804089
  
  CAID: CA10529736
  
  gnomAD: Allele Frequency in population where variant was found in the highest (South Asian population): 0.0001128
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked Zygosity:NoZygosityAssertion CAID:CA10529736 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

CAID:CA10529736

Gene:F9

Zygosity:NoZygosityAssertion

inferred_gene_source:CAID

FIXTesting:Partial

DiseaseSeverity:Severe

InheritancePattern:X-Linked

inferred_gene_hgnc:3551

ParentalTest:Unknown

ClinGen Coag Fac Def VCEP

CaseInfo

Annotators

ClingenBaseline

URL

link-springer-com.libproxy.lib.unc.edu/article/10.1007/s00277-018-3398-2
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Identification and Genetic Analysis of a Factor IX Gene Intron 3 Mutation in a Hemophilia B Pedigree in China

1
1. ClingenBaseline 25 Oct 2026
  
  in Baseline Annotations
  
  6 months of age, the proband (male, born on 20 February 2008)
  
  Case2: 6-month-old Male, China
  
  DiseaseAssertion: Hemophilia B (Factor IX-deficient)
  
  FamilyInfo: Mother and maternal grandmother are HB carriers due to a novel mutation in intron 3. Pedigree shown in Figure 1.
  
  ParentalTesting: The F9 exons were amplified (RT-PCR) and exons 1 to 8 of the F9 gene were analyzed with the ABI 3130 Genetic Analyzer, Sequenced intron 3 of the F9 gene
  
  CasePresentingHPOs: HP:0011858 (Reduced factor IX activity)
  
  CaseHPOFreeRext: FIX:C 1%, Pelioma, Cyanotic bumps, Subcutaneous bleeding, knee swelling from crawling
  
  CasePreviousTesting: Prenatal testing at 20 weeks
  
  Gene: F9
  
  Variant: NM_000133.3(F9):c.278-3A>G
  
  ClinVar: 92225 https://www.ncbi.nlm.nih.gov/clinvar/variation/92225/#id_first
  
  CAID: CA285284
  
  gnomAD: Not Reported
  
  CaseInfo Gene:F9 HGNC:3551 DiseaseEntity:FactorIXDeficiency InheritancePattern:Xlinked Mutation:Intronic FIXtesting:Partial Zygosity:NoZygosityAssertion FamilyInfo ParentalTest:Both ClinVarID:92225 CAID:CA285284 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

CAID:CA285284

InheritancePattern:Xlinked

Gene:F9

DiseaseEntity:FactorIXDeficiency

inferred_gene_source:hgnc_tag

HGNC:3551

FIXtesting:Partial

Zygosity:NoZygosityAssertion

Mutation:Intronic

ParentalTest:Both

FamilyInfo

inferred_gene_hgnc:3551

ClinVarID:92225

ClinGen Coag Fac Def VCEP

CaseInfo

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC4287022/
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu

Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations

2
1. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  Cys-19Tyr
  
  Case#: 52HBT167 (Turkish; assumed male)
  
  DiseaseAssertion: Moderate Hemophilia B
  
  FamilyInfo: N/A
  
  ParentalTesting: Not provided
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOsFreeText: Reduced factor IX activity (FIX:C:3.9)
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: NM_000133.4:c.83G>A (p.Cys28Tyr)
  
  LegacyVariant: c.112G>A (p.Cys-19Tyr)
  
  ClinVar: Absent/Not Reported
  
  CAID: CA414434483
  
  gnomAD: Absent/Not Reported
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414434483 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Moderate inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
2. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  Arg-4Gln
  
  Case#: 27HBT98 (Turkish; assumed male)
  
  DiseaseAssertion: Moderate Hemophilia B
  
  FamilyInfo: N/A
  
  ParentalTesting: Not provided
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOsFreeText: Reduced factor IX activity (FIX:C: 2)
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: NM_000133.4:c.128G>A (p.Arg43Gln)
  
  LegacyVariant: c.6365 G>A (p.Arg-4Gln)
  
  ClinVar: 810864
  
  CAID: CA414435539
  
  gnomAD: Absent/Not Reported
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435539 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Moderate inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

DiseaseSeverity:Moderate

Zygosity:NoZygosityAssertion

inferred_gene_source:CAID

FIXTesting:Partial

InheritancePattern:X-Linked

ParentalTest:Unknown

CAID:CA414434483

CaseInfo

Mutation:Missense

Gene:F9

DiseaseEntity:FactorIXDeficiency

CAID:CA414435539

inferred_gene_hgnc:3551

ClinGen Coag Fac Def VCEP

Annotators

ClingenBaseline

URL

onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1046/j.1365-2141.2003.04141.x
link.springer.com link.springer.com

Variants in FIX propeptide associated with vitamin K antagonist hypersensitivity: functional analysis and additional data confirming the common founder mutations

1
1. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  Val37 mutation.
  
  Case#: Patient Q (male, 83 y/o, born in South Germany)
  
  DiseaseAssertion: Severe Hemophilia B
  
  FamilyInfo: Brother died from a life threatening bleeding complication under phenprocoumon therapy
  
  ParentalTesting: N/A
  
  CasePresentingHPOs: HP:0011858, HP:0012233
  
  CaseHPOsFreeText: reduced factor IX activity (FIX:C: 2%), muscle hematoma of the extremities, subcutaneous bleed of the body and lower extremities.
  
  CaseNotHPOs: None
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: NM_000133.4:c.110C>T (p.Ala37Val)
  
  ClinVar: Absent
  
  CAID: CA414435437
  
  gnomAD: Allele Frequency (European-non Finnish): 0.00002186
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435437 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

Mutation:Missense

CAID:CA414435437

Gene:F9

DiseaseEntity:FactorIXDeficiency

Zygosity:NoZygosityAssertion

inferred_gene_source:CAID

FIXTesting:Partial

DiseaseSeverity:Severe

InheritancePattern:X-Linked

inferred_gene_hgnc:3551

ParentalTest:Unknown

ClinGen Coag Fac Def VCEP

CaseInfo

Annotators

ClingenBaseline

URL

link.springer.com/article/10.1007/s00277-018-3264-2
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

ajhg00092-0032.pdf

1
1. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  HB55
  
  Case#: Family HB55
  
  DiseaseAssertion: Severe Hemophilia B
  
  FamilyInfo: N/A
  
  ParentalTesting: None
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOsFreeText: reduced factor IX activity (FIX:C: <1)
  
  CaseNotHPOs: None
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: NM_000133.4:c.128G>T (p.Arg43Leu)
  
  ClinVar: 993549
  
  CAID: CA414435545
  
  gnomAD: Absent/Not Reported
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414435545 Zygosity:NoZygosityAssertion ParentalTest:Unknown FIXTesting:Partial DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

Mutation:Missense

Gene:F9

DiseaseEntity:FactorIXDeficiency

CAID:CA414435545

Zygosity:NoZygosityAssertion

inferred_gene_source:CAID

FIXTesting:Partial

DiseaseSeverity:Severe

InheritancePattern:X-Linked

inferred_gene_hgnc:3551

ParentalTest:Unknown

ClinGen Coag Fac Def VCEP

CaseInfo

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC1683712/pdf/ajhg00092-0032.pdf
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov

Germline mutations in the factor IX gene: a comparison of the pattern in Caucasians and non-Caucasians

2
1. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  mutations in the factor IX gene resulting in hemophilia B
  
  Case#: Gostout_Proband_189 (assumed male, Asian (from India))
  
  DiseaseAssertion: Severe Hemophilia B
  
  FamilyInfo: N/A
  
  ParentalTesting: None
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOsFreeText: reduced factor IX activity (FIX:C: 3%)
  
  CaseNotHPOs: None
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: NM_000133.4:c.127C>T (p.Arg43Trp)
  
  LegacyVariant: c.6364C>T (p.Arg-4Trp)
  
  ClinVar: 811505
  
  CAID: CA414435537
  
  gnomAD: Absent/Not Reported
  
  Gene:F9 CaseInfo DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435537 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
2. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  mutations in the factor IX gene resulting in hemophilia B.
  
  Case#: Gostout_Proband_280 (assumed male, Asian (from Japan))
  
  DiseaseAssertion: Severe Hemophilia B
  
  FamilyInfo: N/A
  
  ParentalTesting: None
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOsFreeText: reduced factor IX activity (FIX:C: 1.8%)
  
  CaseNotHPOs: None
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: NM_000133.4:c.128G>A (p.Arg43Gln)
  
  ClinVar: 810864
  
  CAID: CA414435539
  
  gnomAD: Absent/Not Reported
  
  Gene: F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency CAID:CA414435539 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

Zygosity:NoZygosityAssertion

inferred_gene_source:CAID

FIXTesting:Partial

DiseaseSeverity:Severe

InheritancePattern:X-Linked

ParentalTest:Unknown

CaseInfo

Gene: F9

Mutation:Missense

Gene:F9

DiseaseEntity:FactorIXDeficiency

CAID:CA414435539

inferred_gene_hgnc:3551

CAID:CA414435537

ClinGen Coag Fac Def VCEP

Annotators

ClingenBaseline

URL

pubmed.ncbi.nlm.nih.gov/8499919/
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu

Identification of novel and recurrent mutations in Tunisian haemophilia B patients

1
1. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  Hb15
  
  Case#: HB15 (assumed male, Tunisian)
  
  DiseaseAssertion: Severe Hemophilia B
  
  FamilyInfo: None
  
  ParentalTesting: None
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOsFreeText: reduced factor IX activity (FIX: <1)
  
  CaseNotHPOs: None
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: NM_000133.4:c.128G>A (p.Arg43Gln)
  
  ClinVar: 810864
  
  CAID: CA414435539
  
  gnomAD: Absent/Not Reported
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Zygosity:NoZygosityAssertion Mutation:Missense CAID:CA414435539 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

Mutation:Missense

Gene:F9

DiseaseEntity:FactorIXDeficiency

CAID:CA414435539

Zygosity:NoZygosityAssertion

inferred_gene_source:CAID

FIXTesting:Partial

DiseaseSeverity:Severe

InheritancePattern:X-Linked

inferred_gene_hgnc:3551

ParentalTest:Unknown

ClinGen Coag Fac Def VCEP

CaseInfo

Annotators

ClingenBaseline

URL

onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2010.02442.x
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu

Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data

1
1. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  6364 C→T
  
  Case#: Ivaskevicius_Proband_LT65 (assumed male, Lithuanian)
  
  DiseaseAssertion: Severe Hemophilia B
  
  FamilyInfo: N/A
  
  ParentalTesting: N/A
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOsFreeText: reduced factor IX activity (FIX:C: 0)
  
  CaseNotHPOs: N/A
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: NM_000133.4:c.127C>T (p.Arg43Trp)
  
  LegacyVariant: c.6364C>T (p.Arg-4Trp)
  
  ClinVar: 811505
  
  CAID: CA414435537
  
  gnomAD: Absent/Not Reported
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435537 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

Mutation:Missense

Gene:F9

DiseaseEntity:FactorIXDeficiency

Zygosity:NoZygosityAssertion

inferred_gene_source:CAID

FIXTesting:Partial

DiseaseSeverity:Severe

InheritancePattern:X-Linked

inferred_gene_hgnc:3551

CAID:CA414435537

ParentalTest:Unknown

ClinGen Coag Fac Def VCEP

CaseInfo

Annotators

ClingenBaseline

URL

onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1046/j.1365-2141.2001.02671.x
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu

Monitoring once-weekly recombinant factor IX prophylaxis in hemophilia B with thrombin generation assay and factor IX activity

1
1. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  c.83G>A/p.Cys28Tyr
  
  Case#: Nummi_Proband_6 (assumed male)
  
  DiseaseAssertion: Moderate Hemophilia B
  
  FamilyInfo: N/A
  
  ParentalTesting: None
  
  CasePresentingHPOs: HP:0001929 (FIX baseline clotting activity: 1
  
  CaseHPOsFreeText: reduced factor IX activity
  
  CaseNotHPOs: N/A
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: NM_000133.4:c.83G>A (p.Cys28Tyr)
  
  ClinVar: Absent
  
  CAID: CA414434483
  
  gnomAD: Absent/Not Reported
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414434483 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Moderate inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

Mutation:Missense

Gene:F9

DiseaseEntity:FactorIXDeficiency

DiseaseSeverity:Moderate

Zygosity:NoZygosityAssertion

inferred_gene_source:CAID

FIXTesting:Partial

inferred_gene_hgnc:3551

InheritancePattern:X-Linked

CAID:CA414434483

ParentalTest:Unknown

ClinGen Coag Fac Def VCEP

CaseInfo

Annotators

ClingenBaseline

URL

onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/ijlh.12634
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu

Missense mutations at ALA-10 in the factor IX propeptide: an insignificant variant in normal life but a decisive cause of bleeding during oral anticoagulant therapy

1
1. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  Case#: Oldenburg Cases A, B and C (A: 66 y/o, B: 38 y/o, C: 30 y/o (all in Germany))
  
  DiseaseAssertion: Mild Hemophilia B
  
  FamilyInfo: No bleeding tendency noted in any of these patients family history
  
  ParentalTesting: N/A
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOsFreeText: severe bleeding at each occasion of oral anticoagulation with phenoprocoumon, bleeding was located in the muscles of the upper leg (patients A and C) and scrotum, left calf and thigh musles (patient B), reduced factor IX levels
  
  CaseNotHPOs: N/A
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: NM_000133.4:c.109G>A (p.Ala37Thr)
  
  LegacyVariant: p.Ala-10Thr
  
  ClinVar: 804089
  
  CAID: CA10529736
  
  gnomAD: Allele Frequency in population where variant was found in the highest (South Asian population): 0.0001128
  
  AdditionalCaseInfo: all patients were unrelated up to the third generation. However, the parents of patients A and C emigrated from the same region in North-Eastern Europe (North Poland)
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA10529736 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Mild inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

CAID:CA10529736

Mutation:Missense

Gene:F9

DiseaseEntity:FactorIXDeficiency

Zygosity:NoZygosityAssertion

inferred_gene_source:CAID

FIXTesting:Partial

inferred_gene_hgnc:3551

InheritancePattern:X-Linked

ParentalTest:Unknown

ClinGen Coag Fac Def VCEP

CaseInfo

DiseaseSeverity:Mild

Annotators

ClingenBaseline

URL

onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/pdf/10.1046/j.1365-2141.1997.2213036.x
oce-ovid-com.libproxy.lib.unc.edu oce-ovid-com.libproxy.lib.unc.edu

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

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

Tags

CAID:CA414435729

inferred_gene_source:hgnc_tag

HGNC:3551

FIXtesting:Partial

ParentalTest:Both

FamilyInfo

Inhibitor:NotReported

PreviousTesting:Additional

Mutation:Missense

Gene:F9

DiseaseEntity:FactorIXDeficiency

Zygosity:Hemizygous

DiseaseSeverity:ModerateHemophiliaB

AssayDiscrepancy:NotReported

inferred_gene_hgnc:3551

ClinGen Coag Fac Def VCEP

Annotators

ClingenBaseline

URL

oce-ovid-com.libproxy.lib.unc.edu/article/00001721-202003000-00002/HTML
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov

Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  mutations
  
  Case#: Tartary_Proband_998 (assumed male)
  
  DiseaseAssertion: None (FIX:C: 18)
  
  FamilyInfo: None
  
  ParentalTesting: N/A
  
  CasePresentingHPOs: None
  
  CaseNotHPOs: N/A
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: NM_000133.4:c.128G>A (p.Arg43Gln)
  
  LegacyVariant: c.6365 G>A (p.Arg-4Gln)
  
  ClinVar: 810864
  
  CAID: CA414435539
  
  gnomAD: Absent/Not Reported
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435539 FIXTesting:Partial ParentalTest:Unknown inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

Mutation:Missense

Gene:F9

DiseaseEntity:FactorIXDeficiency

CAID:CA414435539

Zygosity:NoZygosityAssertion

inferred_gene_source:CAID

FIXTesting:Partial

inferred_gene_hgnc:3551

InheritancePattern:X-Linked

ParentalTest:Unknown

ClinGen Coag Fac Def VCEP

CaseInfo

Annotators

ClingenBaseline

URL

pubmed.ncbi.nlm.nih.gov/8217825/
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov

Molecular epidemiology of factor IX germline mutations in Mexican Hispanics: pattern of mutation and potential founder effects

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  mutations
  
  Case#: HB385
  
  DiseaseAssertion: Moderate Hemophilia B
  
  FamilyInfo: N/A
  
  ParentalTesting: N/A
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOsFreeText: reduced factor IX activity FIX:C: 2%
  
  CaseNotHPOs: None
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: NM_000133.4:c.128G>A (p.Arg43Gln)
  
  ClinVar: 810864
  
  CAID: CA414435539
  
  gnomAD: Absent/Not Reported
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency CAID:CA414435539 Zygosity:NoZygosityAssertion ParentalTest:Unknown FIXTesting:Partial DiseaseSeverity:Moderate inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

CAID:CA414435539

Gene:F9

DiseaseEntity:FactorIXDeficiency

DiseaseSeverity:Moderate

Zygosity:NoZygosityAssertion

inferred_gene_source:CAID

FIXTesting:Partial

inferred_gene_hgnc:3551

InheritancePattern:X-Linked

ParentalTest:Unknown

ClinGen Coag Fac Def VCEP

CaseInfo

Annotators

ClingenBaseline

URL

pubmed.ncbi.nlm.nih.gov/8772212/
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu

Mutation Analysis in F9 Gene of 17 Families with Haemophilia B from Iran

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  7
  
  Case#: Enayat_Family 7
  
  DiseaseAssertion: Severe Hemophilia B (Familial; from Shiraz, Iran)
  
  FamilyInfo: Affected mothers and some sisters were investigated as the "family"
  
  ParentalTesting:
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOsFreeText: reduced factor IX activity (FIX:C: < 0.01)
  
  CaseNotHPOs: None
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: NM_000133.4:c.128G>A (p.Arg43Gln)
  
  LegacyVariant: c.6365 G>A (p.Arg-4Gln)
  
  ClinVar: 810864
  
  CAID: CA414435539
  
  gnomAD: Absent/Not Reported
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435539 ParentalTest:Mother FIXTesting:Partial DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

Mutation:Missense

Gene:F9

DiseaseEntity:FactorIXDeficiency

CAID:CA414435539

Zygosity:NoZygosityAssertion

inferred_gene_source:CAID

FIXTesting:Partial

DiseaseSeverity:Severe

InheritancePattern:X-Linked

inferred_gene_hgnc:3551

ClinGen Coag Fac Def VCEP

CaseInfo

ParentalTest:Mother

Annotators

ClingenBaseline

URL

onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2004.01041.x
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu

Insight into molecular changes of the FIX protein in a series of Italian patients with haemophilia B

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Case#: IG13 (Italian, assumed male)
  
  DiseaseAssertion: Severe Hemophilia B
  
  FamilyInfo: Not provided
  
  ParentalTesting: Not provided
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOsFreeText: reduced factor IX activity (FIX:C: <1%)
  
  CaseNotHPOs: N/A
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: NM_000133.4:c.83G>A (p.Cys28Tyr)
  
  LegacyVariant: c.112G>A (p.Cys-19Tyr)
  
  ClinVar: Absent
  
  CAID: CA414434483
  
  gnomAD: Absent/Not Reported
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414434483 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

Mutation:Missense

Gene:F9

DiseaseEntity:FactorIXDeficiency

Zygosity:NoZygosityAssertion

inferred_gene_source:CAID

FIXTesting:Partial

DiseaseSeverity:Severe

InheritancePattern:X-Linked

inferred_gene_hgnc:3551

CAID:CA414434483

ParentalTest:Unknown

ClinGen Coag Fac Def VCEP

CaseInfo

Annotators

ClingenBaseline

URL

onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2006.01275.x
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

297-15.indd

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  9-month old boy was diagnosed with severe haemophilia B
  
  Case1: Male, 9-months at time of diagnosis
  
  DiseaseAssertion: Severe Hemophilia B
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: HP:0001933 (Subcutaneous hemorrhage), HP:0007420 (Spontaneous hematomas), HP:0012233 (Intramuscular hematoma), HP:0005261 (Joint hemorrhage)
  
  CaseHPOFreeText: FIX: C <1%, recurrent anaphylactic reactions to FIX (abdominal pain, respiratory arrest, and severe hypotension)
  
  CasePreviousTesting: F9 analysis (revealed a point mutation at exon H)
  
  Gene: F9
  
  Variant: NM_000133.3(F9):c.880C>T (p.Arg294Ter)
  
  LegacyVariant: g 30863 C>T; Arg 248 stop
  
  ClinVar: 10587 https://www.ncbi.nlm.nih.gov/clinvar/variation/10587/
  
  gnomAD: Not reported
  
  CaseInfo Gene:F9 HGNC:3551 DiseaseEntity:FactorIXDeficiency InheritancePattern:NoInheritanceAssertion Mutation:Missense FIXtesting:Partial Zygosity:NoZygosityAssertion ParentalTest:Unknown ClinVarID:10587 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

InheritancePattern:NoInheritanceAssertion

Mutation:Missense

Gene:F9

DiseaseEntity:FactorIXDeficiency

inferred_gene_source:hgnc_tag

HGNC:3551

FIXtesting:Partial

Zygosity:NoZygosityAssertion

ClinVarID:10587

inferred_gene_hgnc:3551

ParentalTest:Unknown

ClinGen Coag Fac Def VCEP

CaseInfo

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC5111390/
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov

Germline mutations in Peruvian patients with hemophilia B: pattern of mutation in AmerIndians is similar to the putative endogenous germline pattern

2
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  mutation
  
  Case#: Heit_Proband_HB541 (assumed male, AmerIndian from Peru)
  
  DiseaseAssertion: Severe Hemophilia B
  
  FamilyInfo: N/A
  
  ParentalTesting: N/A
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOsFreeText: reduced factor IX activity (FIX:C: <1 %)
  
  CaseNotHPOs: N/A
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: NM_000133.4:c.128G>A (p.Arg43Gln)
  
  ClinVar: 810864
  
  CAID: CA414435539
  
  gnomAD: Absent/Not Reported
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435539 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
2. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  mutation
  
  Case#: Heit_Proband_HB541 (assumed male, AmerIndian from Peru)
  
  DiseaseAssertion: Severe Hemophilia B
  
  FamilyInfo: N/A
  
  ParentalTesting: N/A
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOsFreeText: reduced factor IX activity (FIX:C: <1%
  
  CaseNotHPOs: N/A
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: NM_000133.4:c.137G>C (p.Arg46Thr)
  
  LegacyVariant: c.6374 G>C (p.Arg-1Thr)
  
  ClinVar: Absent/Not Reported
  
  CAID: CA414435590
  
  gnomAD: Absent/Not Reported
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Zygosity:NoZygosityAssertion CAID:CA414435590 ParentalTest:Unknown FIXTesting:Partial DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

CAID:CA414435590

Zygosity:NoZygosityAssertion

inferred_gene_source:CAID

FIXTesting:Partial

DiseaseSeverity:Severe

InheritancePattern:X-Linked

ParentalTest:Unknown

CaseInfo

Mutation:Missense

Gene:F9

DiseaseEntity:FactorIXDeficiency

CAID:CA414435539

inferred_gene_hgnc:3551

ClinGen Coag Fac Def VCEP

Annotators

ClingenBaseline

URL

pubmed.ncbi.nlm.nih.gov/9600455/

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