10,000 Matching Annotations

Oct 2026
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov

Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions

2
1. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  Molecular and clinical analysis of 126 French VHL families tested for renal involvement revealed 92 different mutations. 90 of these families had renal involvement. The p.K159delinsI* (c.475_476insTTT) germline variant of the VHL gene was detected in a family (ID 43). Member 3207 had no renal involvement. Members 3206 and 3203 presented with mild renal disease. Member 3189 presented with severe renal disease (RCC). The paper states that this family is previously reported in PMID 12202531 and/or 9829912.
  
  EvidenceStatement ClinVarID:N/A CAID:CA2573130359 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
2. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  Molecular and clinical analysis of 126 French VHL families tested for renal involvement revealed 92 different mutations. 90 of these families had renal involvement. The p.N67_V74del (c.197_221del) germline variant of the VHL gene was detected in a family (ID 287). Member 6396 presented with mild renal disease. Member 6611 presented with severe renal disease (RCC). The paper states that this family is previously reported in PMID 9829912, where 1 patient with this mutation is reported but relation to this patient is unclear. The variant is reported as c.197_220del which was mapped to c.198_221del.
  
  EvidenceStatement ClinVarID:N/A CAID:CA2573130203 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
Visit annotations in context

Tags

CAID:CA2573130359

inferred_gene_hgnc:12687

VHL Hypothesis Annotation

ClinVarID:N/A

EvidenceStatement

inferred_gene_source:CAID

CAID:CA2573130203

Annotators

ClingenBaseline

URL

pubmed.ncbi.nlm.nih.gov/15300849/
onlinelibrary.wiley.com onlinelibrary.wiley.com

Characterization of endolymphatic sac tumors and von Hippel–Lindau disease in the International Endolymphatic Sac Tumor Registry

1
1. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  1 France c.473T>C p.Leu158Pro
  
  GroupID: 23
  
  Case: Sex, Age, Ethnicity unknown
  
  DiseaseAssertion: VHL
  
  FamilyInfo: Unknown. 1 registrant from France was found with this variant; no family info was mentioned
  
  CasePresentingHPOs: HP:0030393 (Endolymphatic sac tumor)
  
  CaseHPOFreeText: N/A
  
  CaseNotHPOs: N/A
  
  CaseNotHPOFreeText: N/A
  
  CasePreviousTesting: N/A
  
  PreviouslyPublished: N/A
  
  SupplementalData: N/A
  
  Variant: p.L158P (c.473T>C)
  
  CaseProblemVariantFreeText: N/A
  
  LegacyVariant: N/A
  
  ClinVarID: 182980 https://www.ncbi.nlm.nih.gov/clinvar/variation/182980/
  
  CAID: N/A
  
  gnomAD: N/A
  
  VariantEvidence: N/A
  
  MutationType: missense_variant; transition
  
  CivicName: L158P (c.473T>C)
  
  MultipleGeneVariants: N/A
  
  DiseaseEntity:VHL DiseaseEntity:endolymphaticsactumor Mutation:Germline RefSeq:NM_000551.3 cDNAposition:473 ProteinPosition:158 AminoAcidChange:LEUtoPRO CAID:CA020399 ClinVarID:182980 CivicName:L158P(c.473T>C) MutationType:missense_variant;transition ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
Visit annotations in context

Tags

AminoAcidChange:LEUtoPRO

RefSeq:NM_000551.3

inferred_gene_hgnc:12687

ClinVarID:Yes

CivicName:L158P(c.473T>C)

VHL Hypothesis Annotation

MutationType:missense_variant;transition

DiseaseEntity:endolymphaticsactumor

CAID:CA020399

DiseaseEntity:VHL

Mutation:Germline

ClinVarID:182980

ProteinPosition:158

inferred_gene_source:CAID

cDNAposition:473

Annotators

ClingenBaseline

URL

onlinelibrary.wiley.com/doi/full/10.1002/hed.24067
jmg-bmj-com.uhn.idm.oclc.org jmg-bmj-com.uhn.idm.oclc.org

Evidence for genetic anticipation in vonHippel-Lindau syndrome

1
1. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  PatientID: 6 (Sister)
  
  KindredID: 1
  
  Case: F, 24Y0M, Ethnicity Unknown
  
  DiseaseAssertion: VHL
  
  FamilyInfo: 9 members of this family were found to harbor the c.193T>G germline variant of the VHL gene. ID 35 was asymptomatic. IDs 1 (proband), 28, 2, 17 and 19 all presented with pheochromocytoma. ID 5 presented with CNS hemangioblastoma, retinal angioma and renal cyst OR tumor (not specified). ID 21 presented with retinal angioma and pheochromocytoma.
  
  CasePresentingHPOs: HP:0002666 (Pheochromocytoma)
  
  CaseHPOFreeText: The patient presented with a Pheochromocytoma at age 9.
  
  CaseNotHPOs: HP:0009711; HP:0005584; HP:0001732; HP:0000077; HP:0010797 (Retinal capillary hemangioma, Renal cell carcinoma, Abnormality of the pancreas, Abnormality of the kidney, Hemangioblastoma)
  
  CaseNotHPOFreeText: N/A
  
  CasePreviousTesting: N/A
  
  PreviouslyPublished: N/A
  
  SupplementalData: Supplementary Table 1.
  
  Variant: p.S65A (c.193T>G)
  
  LegacyVariant: N/A
  
  CaseProblemVariantFreeText: N/A
  
  ClinVarID: 223160, https://www.ncbi.nlm.nih.gov/clinvar/variation/223160/
  
  CAID: N/A
  
  gnomAD: N/A
  
  VariantEvidence: N/A
  
  MutationType: missense_variant;transversion
  
  CivicName: S65A (c.193T>G)
  
  MultipleGeneVariants: N/A
  
  InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:9 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:193 ProteinPosition:65 AminoAcidChange:SERtoALA ClinVarID:223160 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:S65A(c.193T>G) Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
Visit annotations in context

Tags

ProteinPosition:65

Familial

ClinVarID:223160

VHL Hypothesis Annotation

cDNAposition:193

DiseaseEntity:VHL

CivicName:S65A(c.193T>G)

Mutation:Germline

MutationType:missense_variant;transversion

DiseaseEntity:pheochromocytoma

AgeOfPresentation:pheochromocytoma:9

AssumedRefSeq:NM_000551.3

inferred_gene_hgnc:12687

ClinVarID:Yes

AminoAcidChange:SERtoALA

InheritancePattern:AutosomalDominant

inferred_gene_source:RefSeq

Annotators

ClingenBaseline

URL

jmg-bmj-com.uhn.idm.oclc.org/content/55/6/395
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov

Factor IX gene analysis in 70 unrelated patients with haemophilia B: description of 13 new mutations

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  mutation
  
  Case#: Attali_LY04 (assumed male, from France)
  
  DiseaseAssertion: Moderate Hemophilia B
  
  FamilyInfo: None
  
  ParentalTesting: None
  
  CasePresentingHPOs: HP:0011858
  
  CasePresentingHPOsFreeText: reduced factor IX activity (FIX:C: 3 ; FIX:Ag: 41)
  
  CaseNotHPOs: N/A
  
  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 CAID:CA414435537 ParentalTest:Unknown Zygosity:NoZygosityAssertion FIXTesting:Full DiseaseSeverity:Moderate inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

InheritancePattern:X-Linked

DiseaseSeverity:Moderate

ClinGen Coag Fac Def VCEP

FIXTesting:Full

Zygosity:NoZygosityAssertion

DiseaseEntity:FactorIXDeficiency

ParentalTest:Unknown

Mutation:Missense

Gene:F9

inferred_gene_source:CAID

CAID:CA414435537

inferred_gene_hgnc:3551

CaseInfo

Annotators

ClingenBaseline

URL

pubmed.ncbi.nlm.nih.gov/10595634/
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

11
1. 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
2. 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
3. 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
4. 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
5. 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
6. 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
7. 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
8. 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
9. 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
10. 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
11. 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
Visit annotations in context

Tags

CAID:CA414446384

Mutation:Nonsense

CAID:CA121128

CAID:CA414447233

CAID:CA414447040

Inhibitor:Absent

CAID:CA255340

ClinGen Coag Fac Def VCEP

DiseaseSeverity:SevereHemophiliaB

CAID:CA255368

DiseaseSeverity:MildHemophiliaB

DiseaseEntity:FactorIXDeficiency

FIXtesting:Partial

Mutation:Missense

inferred_gene_source:CAID

CAID:CA255370

CAID:CA414435755

DiseaseSeverity:ModerateHemophiliaB

CAID:CA414435539

Zygosity:NoZygosityAssertion

AssayDiscrepancy:NotReported

inferred_gene_hgnc:3551

CaseInfo

Annotators

ClingenBaseline

URL

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

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

6
1. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 B17 – B27
 
 Case#: B17 - B27
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C Chr = 31, FVIII:AG = 90, inverse assay discrepancy present (OSA<CSA)
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
 
 Gene: F8
 
 Variant: NM_000132.4:c.1636C>T
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255112
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA<CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA255112 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
2. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 Haemophilia A mutations in patients with non-severe phenotype associated with a discrepancy between one-stage and chromogenic factor VIII activity assays
 
 PMID: 24452774
 
 Gene: F8
 
 HGNCID: 3546
 
 General Gene:F8 HGNC:3546 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
3. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 A9 – A11
 
 Case#: A9-A11
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C = 13, FVIII:AG = 28, assay discrepancy present (OSA>CSA)
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
 
 Gene: F8
 
 Variant: NM_000132.4:c.1648C>T
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255113
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA>CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA255113 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
4. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 B74
 
 Case#: B74
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C Chr = 19, FVIII:AG = 17, inverse assay discrepancy present (OSA<CSA)
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
 
 Gene: F8
 
 Variant: NM_000132.4:c.5325G>C, NM_000132.4:c.5325G>T
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255160, CA414910668
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA<CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full MultipleGeneVariants Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
5. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 A12
 
 Case#: A12
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C = 28, FVIII:AG = 54, assay discrepancy present (OSA>CSA)
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
 
 Gene: F8
 
 Variant: NM_000132.4:c.2045T>C
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414909247
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA>CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA414909247 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
6. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 A16
 
 Case#: A16
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C = 7, FVIII:AG = 23, assay discrepancy present (OSA>CSA)
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
 
 Gene: F8
 
 Variant: NM_000132.4:c.5879G>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255019
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:OSA>CSA InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Full CAID:CA255019 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

DiseaseEntity:FactorVIIIDeficiency

HGNC:3546

Mutation:Missense

Gene:F8

FVIIItesting:Full

PreviousTesting:None

ParentalTest:Unknown

AssayDiscrepancy:OSA>CSA

CAID:CA414909247

MultipleGeneVariants

ClinGen Coag Fac Def VCEP

Inhibitor:NotReported

inferred_gene_hgnc:3546

DiseaseSeverity:MildHemophiliaA

InheritancePattern:NoInheritanceAssertion

AssayDiscrepancy:OSA<CSA

CAID:CA255019

CAID:CA255113

Zygosity:NoZygosityAssertion

General

CAID:CA255112

inferred_gene_source:hgnc_tag

CaseInfo

Annotators

ClingenBaseline

URL

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

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

3
1. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 S27
 
 Case#: S27, Iranian
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125, HP:0005261
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
 
 Gene: F8
 
 Variant: NM_000132.3:c.3637delA
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255146
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Frameshift CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
2. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 S8
 
 Case#: S8, Iranian
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: Family history of HA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125, HP:0005261
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
 
 Gene: F8
 
 Variant: NA
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Intronic ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
3. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 S16
 
 Case#: S16, Iranian
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125, HP:0005261
 
 CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
 
 Gene: F8
 
 Variant: NA
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Intronic inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

CAID:CA255146

ToCheck

DiseaseEntity:FactorVIIIDeficiency

FVIIItesting:Partial

Inhibitor:Absent

DiseaseSeverity:SevereHemophiliaA

ClinGen Coag Fac Def VCEP

HGNC:3546

inferred_gene_hgnc:3546

Gene:F8

Inhibitor:Present

Mutation:Intronic

Mutation:Frameshift

AssayDiscrepancy:NotReported

ParentalTest:Unknown

inferred_gene_source:hgnc_tag

CaseInfo

Annotators

ClingenBaseline

URL

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

Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B
  
  PMID: 29388273
  
  Gene: F9
  
  HGNC: 3551
  
  General Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

General

Gene:F9

ClinGen Coag Fac Def VCEP

inferred_gene_hgnc:3551

inferred_gene_source:Gene_Name

Annotators

ClingenBaseline

URL

pubmed.ncbi.nlm.nih.gov/29388273/
onlinelibrary.wiley.com onlinelibrary.wiley.com

hae14141-sup-0001-tables1.pdf

38
1. 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
2. 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
3. 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
4. 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
5. 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
6. 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
7. 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
8. 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
9. 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
10. 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
11. 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
12. 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
13. 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
14. 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
15. 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
16. 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
17. 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
18. 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
19. 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
20. 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
21. 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
22. 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
23. 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
24. 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
25. 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
26. 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
27. 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
28. 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
29. 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
30. 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
31. 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
32. 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
33. 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
34. 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
35. 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
36. 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
37. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 1
 
 Case#: 1, male, 30 years old, Chinese
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: Noted Family History
 
 ParentalTesting: Maternity confirmed
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
 
 Gene: F8
 
 Variant: NM_000132.3:c.36C>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414920668
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Nonsense Zygosity:Hemizygous ParentalConfirmation:Maternity CAID:CA414920668 SupplementalData FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
38. 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
Visit annotations in context

Tags

CAID:CA255146

CAID:CA414906072

ClinVarID:10085

DiseaseSeverity:ModerateHemophiliaA

CAID:CA414903147

CAID:CA414901774

CAID:CA255129

CAID:CA414906679

UnregisteredVariant

CAID:CA414912044

CAID:CA120918

AssayDiscrepancy:NotReported

ClinVarID:10278

PreviousTesting:None

CAID:CA414913420

ParentalTest:Unknown

CAID:CA414902680

ClinVarID:811704

ToCheck

CAID:CA414915622

CAID:CA414919866

FVIIItesting:Partial

CAID:CA414918134

Mutation:Splice

ClinVarID:10236

CAID:CA414908552

FIXtesting:Partial

CAID:CA255050

DiseaseSeverity:MildHemophiliaA

InheritancePattern:NoInheritanceAssertion

CAID:CA255031

Inhibitor:Present

CAID:CA414909145

Mutation:Frameshift

CAID:CA255151

CAID:CA255007

CAID:CA414910596

CAID:CA414919878

DiseaseEntity:FactorVIIIDeficiency

SupplementalData

CAID:CA414907348

DiseaseSeverity:SevereHemophiliaA

ClinVarID:811825

Zygosity:Hemizygous

HGNC:3546

Mutation:Large

CAID:CA414917990

Mutation:Missense

ParentalConfirmation:Maternity

Gene:F8

CAID:CA414920668

CAID:CA414899430

CAID:CA645292749

CAID:CA255166

Mutation:InframeDel

Mutation:Nonsense

Inhibitor:Absent

ClinVarID:10111

ClinGen Coag Fac Def VCEP

ClinVarID:993734

inferred_gene_hgnc:3546

ClinVarID:10139

CAID:CA414910719

CAID:CA414905572

CAID:CA414907751

CAID:CA873341376

inferred_gene_source:hgnc_tag

CaseInfo

Annotators

ClingenBaseline

URL

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

Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites

10
1. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 c.1538G>T
 
 Case#: 21
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: Positive
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: Moderate
 
 CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit
 
 Gene: F8
 
 Variant: NM_000132.3:c.1538G>T (p.Gly494Val)
 
 ClinVar: NA
 
 CAID: CA414912397
 
 gnomAD: Not reported
 
 CAID:CA414912397 DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown InheritancePattern:Xlinked CaseInfo HGNC:3546 Mutation:Missense Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
2. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 IVS15 g-1c
 
 Case#: 11
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: Sporadic
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: Severe
 
 CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit
 
 Gene: F8
 
 Variant: NM_000132.3:c.5374-1G>C
 
 ClinVar: NA
 
 CAID: CA414909191
 
 gnomAD: NA
 
 DiseaseEntity:FactorVIIIDeficiency ParentalTest:Unknown Zygosity:NoZygosityAssertion CAID:CA414909191 CaseInfo HGNC:3546 Gene:F8 Mutation:Intronic InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
3. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 C.6515C>T
 
 Case#: 29
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: Positive
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: Severe
 
 CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit
 
 Gene: F8
 
 Variant: NM_000132.3:c.6515C>T (p.Pro2153Leu)
 
 ClinVar: NA
 
 CAID: CA414907354
 
 gnomAD: Not reported
 
 CAID:CA414907354 Zygosity:NoZygosityAssertion ParentalTest:Unknown DiseaseEntity:FactorVIIIDeficiency InheritancePattern:Xlinked CaseInfo HGNC:3546 Mutation:Missense Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
4. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 c.556G>A
 
 Case#: 13
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: Positive
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: Severe
 
 CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit
 
 Gene: F8
 
 Variant: NM_000132.3:c.556G>A
 
 ClinVar: NA
 
 CAID: CA414919461
 
 gnomAD: Not reported
 
 CAID:CA414919461 DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown InheritancePattern:Xlinked CaseInfo HGNC:3546 Mutation:Missense Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
5. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites
 
 PMID: 18184865
 
 Gene: F8
 
 HGNCID: 3546
 
 General Gene:F8 HGNC:3546 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
6. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 C.7006A>T
 
 Case#: 31
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: Positive
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: Moderate
 
 CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit
 
 Gene: F8
 
 Variant: NM_000132.3:c.7006A>T (p.Ile2317Phe)
 
 ClinVar: NA
 
 CAID: CA414896884
 
 gnomAD: Not reported
 
 CAID:CA414896884 Zygosity:NoZygosityAssertion DiseaseEntity:FactorVIIIDeficiency ParentalTest:Unknown InheritancePattern:Xlinked CaseInfo HGNC:3546 Mutation:Missense Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
7. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 c.1682delA
 
 Case#: 2
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: Sporadic
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: Severe
 
 CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit
 
 Gene: F8
 
 Variant: NM_000132.3:c.1682del (p.Asp561ValfsTer2)
 
 ClinVar: NA
 
 CAID: CA1139532041
 
 gnomAD: Not reported
 
 DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown CaseInfo HGNC:3546 CAID:CA1139532041 Gene:F8 Mutation:Frameshift InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
8. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 c.5159C>T
 
 Case#: 24
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: Positive
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: Mild
 
 CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit
 
 Gene: F8
 
 Variant: NM_000132.3:c.5159C>T (p.Ala1701Val)
 
 ClinVar: NA
 
 CAID: CA414913679
 
 gnomAD: Not reported
 
 CAID:CA414913679 DiseaseEntity:FactorVIIIDeficiency ParentalTest:Unknown Zygosity:NoZygosityAssertion InheritancePattern:Xlinked CaseInfo HGNC:3546 Mutation:Missense Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
9. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 c.248C>G
 
 Case#: 12
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: Positive
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: Mild
 
 CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit
 
 Gene: F8
 
 Variant: NM_000132.3:c.248C>G (p.Pro83Arg)
 
 ClinVar: NA
 
 CAID: CA10568618
 
 gnomAD: MAF for Pro83Arg in the Ashkenazi Jewish population 0.0001335 https://gnomad.broadinstitute.org/variant/X-154227771-G-C?dataset=gnomad_r2_1
 
 CAID:CA10568618 DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown InheritancePattern:Xlinked CaseInfo HGNC:3546 Mutation:Missense Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
10. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 c.1487C>G
 
 Case#: 20
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: Sporadic
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: Severe
 
 CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit
 
 Gene: F8
 
 Variant: NM_000132.3:c.1487C>G (p.Pro477Arg)
 
 ClinVar: NA
 
 CAID: CA414912766
 
 gnomAD: Not reported
 
 CAID:CA414912766 DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown HGNC:3546 CaseInfo Mutation:Missense Gene:F8 InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

CAID:CA414913679

DiseaseEntity:FactorVIIIDeficiency

CAID:CA10568618

ClinGen Coag Fac Def VCEP

CAID:CA414909191

HGNC:3546

Mutation:Missense

inferred_gene_hgnc:3546

Gene:F8

InheritancePattern:NoInheritanceAssertion

CAID:CA1139532041

CAID:CA414912766

CAID:CA414896884

InheritancePattern:Xlinked

CAID:CA414919461

Mutation:Intronic

Mutation:Frameshift

Zygosity:NoZygosityAssertion

ParentalTest:Unknown

General

CAID:CA414907354

inferred_gene_source:hgnc_tag

CAID:CA414912397

CaseInfo

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC2275016/
www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu

Untitled document

36
1. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 004–2009
 
 Case#: 004-2009
 
 DiseaseAssertion: Hemophilia A, moderate
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 1% < FVIII:C < 5%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.1899G>T
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414910251
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414910251 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
2. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 003–2003
 
 Case#: 003-2003
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 5% < FVIII:C < 40%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.5275G>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414911087
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414911087 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
3. 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
4. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 071–2015
 
 Case#: 071-2015
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.2710dupC
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
5. 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
6. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 020–2023
 
 Case#: 020-2023
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 5% < FVIII:C < 40%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.5312T>C
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414910786
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414910786 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
7. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 002–2005
 
 Case#: 002-2005
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.217T>C
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414920251
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414920251 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
8. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 060–2007
 
 Case#: 060-2007
 
 DiseaseAssertion: Hemophilia A, moderate
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 1% < FVIII:C < 5%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.5399G>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255162
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255162 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
9. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 044–2001
 
 Case#: 044-2001
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.6344delT
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial UnregisteredVariant SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
10. 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
11. 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
12. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 022–2004
 
 Case#: 022-2004
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 5% < FVIII:C < 40%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.1492G>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255109
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255109 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
13. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 001–2039
 
 Case#: 001-2039
 
 DiseaseAssertion: Hemophilia A, moderate
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 1% < FVIII:C < 5%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.5156T>C
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414913690
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414913690 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
14. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 015–2005
 
 Case#: 015-2005
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.3637delA
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255146
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
15. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 071–1015
 
 Case#: 071-1015
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant:
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
16. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 035–2003
 
 Case#: 035-2003
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.4825dupA
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255152
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA255152 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
17. 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
18. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 071–2029
 
 Case#: 071-2029
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.1697T>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414911721
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414911721 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
19. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 035–2007
 
 Case#: 035-2007
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.1963_1964insT
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
20. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 002–2017
 
 Case#: 002-2017
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 5% < FVIII:C < 40%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.941C>T
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414917829
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414917829 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
21. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 071–2010
 
 Case#: 071-2010
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.1208A>C
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414916134
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414916134 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
22. 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
23. 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
24. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 091–2009
 
 Case#: 091-2009
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.2681delG
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
25. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 003–2024
 
 Case#: 003-2024
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 5% < FVIII:C < 40%, Inhibitor present
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.5399G>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255162
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255162 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
26. 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
27. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 060–2010
 
 Case#: 060-2010
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 5% < FVIII:C < 40%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.1834C>T
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255129
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorIXDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255129 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
28. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 020–2024
 
 Case#: 020-2024
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 5% < FVIII:C < 40%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.437A>C
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414919724
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414919724 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
29. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 001–2027
 
 Case#: 001-2027
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.1869_1870delG
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
30. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 015–2003
 
 Case#: 015-2003
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.3637delA
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255146
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
31. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 020–2006
 
 Case#: 020-2006
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 5% < FVIII:C < 40%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.1492G>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255109
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255109 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
32. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 035–2022
 
 Case#: 035-2022
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 5% < FVIII:C < 40%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.5954G>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414905715
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414905715 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
33. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 020–2027
 
 Case#: 020-2027
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.5253A>C
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414911240
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414911240 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
34. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 091–2008
 
 Case#: 091-2008
 
 DiseaseAssertion: Hemophilia A, moderate
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 1% < FVIII:C < 5%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.142A>G
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414920432
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414920432 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
35. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 001–2051
 
 Case#: 001-2051
 
 DiseaseAssertion: Hemophilia A, moderate
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 1% < FVIII:C < 5%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.2134C>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414904092
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414904092 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
36. 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
Visit annotations in context

Tags

CAID:CA255146

CAID:CA414913690

DiseaseEntity:FactorVIIIDeficiency

SupplementalData

DiseaseSeverity:SevereHemophiliaA

CAID:CA255152

CAID:CA414911087

HGNC:3546

Mutation:Large

CAID:CA414910786

CAID:CA414904814

Mutation:Missense

Gene:F8

DiseaseSeverity:ModerateHemophiliaA

CAID:CA255129

UnregisteredVariant

CAID:CA255109

CAID:CA414917829

CAID:CA414919724

CAID:CA414920432

AssayDiscrepancy:NotReported

PreviousTesting:None

ParentalTest:Unknown

CAID:CA414905715

Mutation:Nonsense

ToCheck

FVIIItesting:Partial

CAID:CA414916134

Inhibitor:Absent

ClinGen Coag Fac Def VCEP

Mutation:Splice

CAID:CA414920251

CAID:CA414911721

CAID:CA255072

DiseaseEntity:FactorIXDeficiency

CAID:CA414911240

Inhibitor:NotReported

FIXtesting:Partial

inferred_gene_hgnc:3546

DiseaseSeverity:MildHemophiliaA

CAID:CA414904092

InheritancePattern:NoInheritanceAssertion

CAID:CA255144

Inhibitor:Present

CAID:CA255162

CAID:CA414910251

CAID:CA414919141

Zygosity:NoZygosityAssertion

inferred_gene_source:hgnc_tag

CaseInfo

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

A genetic analysis of 23 Chinese patients with hemophilia B

4
1. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 20
 
 Case#: 20
 
 DiseaseAssertion: Hemophilia B, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FIX:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: All exons, UTRs, exon-intron junction regions, and the promotor of F9 were amplified by PCR and analyzed by direct DNA sequencing
 
 Gene: F9
 
 Variant: NM_000133.3:c.252+1G>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414436412
 
 gnomAD:
 
 CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Splice CAID:CA414436412 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
2. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 2
 
 Case#: 2
 
 DiseaseAssertion: Hemophilia B, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FIX:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: All exons, UTRs, exon-intron junction regions, and the promotor of F9 were amplified by PCR and analyzed by direct DNA sequencing
 
 Gene: F9
 
 Variant: NM_000133.3:c.391+1G>C
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414438024
 
 gnomAD:
 
 CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Splice Inhibitor:NotReported CAID:CA414438024 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
3. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 15
 
 Case#: 15
 
 DiseaseAssertion: Hemophilia B, moderate
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FIX:C = 2.6%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: All exons, UTRs, exon-intron junction regions, and the promotor of F9 were amplified by PCR and analyzed by direct DNA sequencing
 
 Gene: F9
 
 Variant: NM_000133.3:c.781T>C
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414443378
 
 gnomAD:
 
 CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense CAID:CA414443378 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
4. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 10
 
 Case#: 10
 
 DiseaseAssertion: Hemophilia B, moderate
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FIX:C = 1.8%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: All exons, UTRs, exon-intron junction regions, and the promotor of F9 were amplified by PCR and analyzed by direct DNA sequencing
 
 Gene: F9
 
 Variant:
 
 LegacyVariant: NM_000133.3:c.880C>T
 
 ClinVar: No
 
 CAID: CA255344
 
 gnomAD:
 
 CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense CAID:CA255344 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

Mutation:Splice

ClinGen Coag Fac Def VCEP

DiseaseSeverity:SevereHemophiliaB

CAID:CA255344

DiseaseEntity:FactorIXDeficiency

Inhibitor:NotReported

Mutation:Missense

inferred_gene_source:CAID

CAID:CA414438024

CAID:CA414443378

DiseaseSeverity:ModerateHemophiliaB

FIXtesting:Full

AssayDiscrepancy:NotReported

Zygosity:NoZygosityAssertion

ParentalTest:Unknown

CAID:CA414436412

inferred_gene_hgnc:3551

CaseInfo

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC4842959/
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov

Genetic basis and carrier detection of hemophilia B of Chinese origin

1
1. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 genetic defects
 
 Case#: Taipei_1 & Taipei_2 (assumed male; Chinese)
 
 DiseaseAssertion: Severe Hemophilia B
 
 FamilyInfo: Mothers of both families were found to be carriers as well as several other females in the family
 
 ParentalTesting: Mothers were carriers
 
 CasePresentingHPOs: HP:0011858
 
 CaseHPOsFreeText: reduced factor IX activity (Patient 1: FIX:C: <1% FIX:Ag: 38 ; Patient 2: FIX:C: <1% ; FIX:Ag: 55)
 
 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 Mutation:Missense CAID:CA414435539 Zygosity:NoZygosityAssertion FIXTesting:Full ParentalTest:Mother DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

InheritancePattern:X-Linked

DiseaseSeverity:Severe

ClinGen Coag Fac Def VCEP

FIXTesting:Full

CAID:CA414435539

Zygosity:NoZygosityAssertion

DiseaseEntity:FactorIXDeficiency

Mutation:Missense

inferred_gene_hgnc:3551

Gene:F9

inferred_gene_source:CAID

ParentalTest:Mother

CaseInfo

Annotators

ClingenBaseline

URL

pubmed.ncbi.nlm.nih.gov/8470048/
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 23 Oct 2026
  
  in Baseline Annotations
  
  PMID: 9233593
  
  Gene: F9
  
  HGNC: 3551
  
  General Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

General

Gene:F9

ClinGen Coag Fac Def VCEP

inferred_gene_hgnc:3551

inferred_gene_source:Gene_Name

Annotators

ClingenBaseline

URL

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

A recoded view on the F9 p.Cys178Ter pathogenic mechanism

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  p.Cys28Gly
  
  Case#: N/A
  
  DiseaseAssertion: Severe Hemophilia B
  
  FamilyInfo: Not provided
  
  ParentalTesting: Not provided
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOsFreeText: reduced factor IX activity
  
  CaseNotHPOs: N/A
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: NM_000133.4:c.82T>G (p.Cys28Gly)
  
  ClinVar: Absent
  
  CAID: CA414434482
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414434482 ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

InheritancePattern:X-Linked

DiseaseSeverity:Severe

ClinGen Coag Fac Def VCEP

CAID:CA414434482

Zygosity:NoZygosityAssertion

DiseaseEntity:FactorIXDeficiency

ParentalTest:Unknown

Mutation:Missense

Gene:F9

inferred_gene_source:CAID

inferred_gene_hgnc:3551

CaseInfo

Annotators

ClingenBaseline

URL

pdf.sciencedirectassets.com/271043/1-s2.0-S0049384820X00028/1-s2.0-S0049384820300256/main.pdf
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

10
1. 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
2. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 c1834C>T
 
 Case#: 15
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C 17/19/25% (Mild Phenotype), No inhibitors present
 
 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: F8
 
 Variant: NM_000132.3(F8):c.1834C>T (p.Arg612Cys)
 
 ClinVar: 10236 https://www.ncbi.nlm.nih.gov/clinvar/variation/10236/
 
 CAID: CA255129
 
 gnomAD: MAF for Arg612Cys in Latino population 0.0001458 https://gnomad.broadinstitute.org/variant/X-154182236-G-A?dataset=gnomad_r2_1
 
 InheritancePattern:NoInheritanceAssertion Mutation:Missense DiseaseEntity:FactorVIIIDeficiency ClinVarID:10236 CAID:CA255129 Zygosity:NoZygosityAssertion ParentalTest:Unknown FVIIItesting:Partial CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
3. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 c.6533G>A
 
 Case#: 32
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C 28%, Mild Phenotype, No inhibitors present
 
 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: F8
 
 Variant: NM_000132.3(F8):c.6533G>A (p.Arg2178His)
 
 ClinVar: 10319 https://www.ncbi.nlm.nih.gov/clinvar/variation/10319/
 
 CAID: CA255212
 
 gnomAD: MAF for Arg2178His in the African population 0.00007598 https://gnomad.broadinstitute.org/variant/X-154091399-C-T?dataset=gnomad_r2_1
 
 ClinVarID:10319 CAID:CA255212 InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion Mutation:Missense ParentalTest:Unknown FVIIItesting:Partial DiseaseEntity:FactorVIIIDeficiency CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
4. 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
5. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 c.6622C>G
 
 Case#: 33
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C 21/29/33/15/20/26%, Mild Phenotype, No inhibitors present
 
 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: F8
 
 Variant: NM_000132.3(F8):c.6622C>G (p.Gln2208Glu)
 
 ClinVar: 811219 https://www.ncbi.nlm.nih.gov/clinvar/variation/811219/
 
 CAID: CA414905992
 
 gnomAD: MAF for Gln2208Glu in the Other population 0.0002208 https://gnomad.broadinstitute.org/variant/X-154090094-G-C?dataset=gnomad_r2_1
 
 DiseaseEntity:FactorVIIIDeficiency Mutation:Missense ClinVarID:811219 CAID:CA414905992 InheritancePattern:NoInheritanceAssertion ParentalTest:Unknown FVIIItesting:Partial Zygosity:NoZygosityAssertion CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
6. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 c.1649G>A
 
 Case#: 14
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C 27% (Mild Phenotype), No inhibitors present
 
 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: F8
 
 Variant: NM_000132.3(F8):c.1649G>A (p.Arg550His)
 
 ClinVar: 10225 https://www.ncbi.nlm.nih.gov/clinvar/variation/10225/
 
 CAID: CA255115
 
 gnomAD: MAF for Arg550His in European (non-Finnish) population 0.00002442 https://gnomad.broadinstitute.org/variant/X-154185335-C-T?dataset=gnomad_r2_1
 
 InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion FVIIItesting:Partial Mutation:Missense ClinVarID:10225 CAID:CA255115 DiseaseEntity:FactorVIIIDeficiency ParentalTest:Unknown CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
7. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 c.280A>G
 
 Case#: 2
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C 32% (Mild Phenotype), No inhibitors present
 
 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: F8
 
 Variant: NM_000132.3(F8):c.280A>G (p.Thr94Ala)
 
 ClinVar: NA
 
 CAID: CA10568603
 
 gnomAD: MAF for Thr94Ala in the European (Non-Finnish) population 0.00001222 https://gnomad.broadinstitute.org/variant/X-154225356-T-C?dataset=gnomad_r2_1
 
 InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA10568603 FVIIItesting:Partial ParentalTest:Unknown CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
8. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 c.7031G>C
 
 Case#: 38
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C 29%, Mild Phenotype, No inhibitors present
 
 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: F8
 
 Variant: NM_000132.3:c.7031G>C (p.Gly2344Ala)
 
 ClinVar: NA
 
 CAID: CA414896685
 
 gnomAD: Not reported
 
 CAID:CA414896685 DiseaseEntity:FactorVIIIDeficiency Mutation:Missense FVIIItesting:Partial Zygosity:NoZygosityAssertion InheritancePattern:NoInheritanceAssertion ParentalTest:Unknown CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
9. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 c.6118T>G
 
 Case#: 29
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C 10/8/14%, Mild Phenotype, No inhibitors present
 
 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: F8
 
 Variant: NM_000132.3:c.6118T>G (p.Cys2040Gly)
 
 ClinVar: NA
 
 CAID: CA414904332
 
 gnomAD: Not reported
 
 CAID:CA414904332 InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion DiseaseEntity:FactorVIIIDeficiency Mutation:Missense ParentalTest:Unknown FVIIItesting:Partial HGNC:3546 CaseInfo Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
10. 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:CA414446562

DiseaseEntity:FactorVIIIDeficiency

ClinVarID:811510

HGNC:3546

CAID:CA414439510

ClinVarID:811219

Mutation:Missense

CAID:CA255115

CAID:CA414896685

Gene:F8

HGNC:3551

CAID:CA255129

CAID:CA414904332

CAID:CA10568603

CAID:CA414905992

ClinVarID:10319

ParentalTest:Unknown

Gene:F9

FVIIItesting:Partial

ClinGen Coag Fac Def VCEP

ClinVarID:10236

DiseaseEntity:FactorIXDeficiency

ClinVarID:10225

FIXtesting:Partial

inferred_gene_hgnc:3546

InheritancePattern:NoInheritanceAssertion

CAID:CA414438897

CAID:CA255212

Zygosity:NoZygosityAssertion

inferred_gene_source:hgnc_tag

inferred_gene_hgnc:3551

CaseInfo

Annotators

ClingenBaseline

URL

www-thieme-connect-com.libproxy.lib.unc.edu/products/ejournals/pdf/10.1160/TH16-05-0375.pdf
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Molecular Analysis of Factor VIII and Factor IX Genes in Hemophilia Patients: Identification of Novel Mutations and Molecular Dynamics Studies

5
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  UQU-HB1
  
  Case#: UQU-HB1, Male, 2-months-old, Saudi Arabia
  
  DiseaseAssertion: Hemophilia B
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: NA
  
  CaseHPOFreeText: Severe, PTT 74.5
  
  CasePreviousTesting: Screened for all factor IX exons by capillary sequencing
  
  Gene: F9
  
  Variant: NM_000133.3(F9):c.1136G>A (p.Arg379Gln)
  
  ClinVar: 10613 https://www.ncbi.nlm.nih.gov/clinvar/variation/10613/
  
  CAID: CA255394
  
  gnomAD: Not reported
  
  ClinVarID:10613 CAID:CA255394 Mutation:Missense Zygosity:NoZygosityAssertion DiseaseEntity:FactorIXDeficiency InheritancePattern:NoInheritanceAssertion ParentalTest:Unknown CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
2. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  UQU-HB8
  
  Case#: UQU-HB8, Male, 1-months-old, Saudi Arabia
  
  DiseaseAssertion: Hemophilia B
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: NA
  
  CaseHPOFreeText: Severe, Disabled both knees , PTT 105.1
  
  CasePreviousTesting: Screened for all factor IX exons by capillary sequencing
  
  Gene: F9
  
  Variant: NM_001313913.1:c.580G>A
  
  ClinVar: NA
  
  CAID: CA414441211
  
  gnomAD: Not reported
  
  Mutation:Missense InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown CAID:CA414441211 CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
3. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  UQU-HA35
  
  Case#: UQU-HA35, Male, 2-months-old, Saudi Arabia
  
  DiseaseAssertion: Hemophilia A
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: NA
  
  CaseHPOFreeText: PTT 118.8, Disabled both knees, Severe
  
  CasePreviousTesting: Screened for inversion 22 by inverse PCR, screened for inversion 1 by multiplexed PCR, capillary sequencing (Sanger method) was performed for factor VIII all 26 exons
  
  Gene: F8
  
  Variant: NM_000132.3:c.1835G>C (p.Arg612Pro)
  
  ClinVar: NA
  
  CAID: CA414910775
  
  gnomAD: Not reported
  
  CAID:CA414910775 Mutation:Missense DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown InheritancePattern:NoInheritanceAssertion CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
4. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  UQU-HB7
  
  Case#: UQU-HB7, Male, 16-months-old, Saudi Arabia
  
  DiseaseAssertion: Hemophilia B
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: NA
  
  CaseHPOFreeText: Severe, Disabled right knee and both ankles , PTT 53.2
  
  CasePreviousTesting: Screened for all factor IX exons by capillary sequencing
  
  Gene: F9
  
  Variant: NM_000133.3(F9):c.880C>T (p.Arg294Ter)
  
  ClinVar: 10587 https://www.ncbi.nlm.nih.gov/clinvar/variation/10587/
  
  CAID: CA255344
  
  gnomAD: Not reported
  
  ClinVarID:10587 CAID:CA255344 Mutation:Nonsense InheritancePattern:NoInheritanceAssertion 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
5. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  UQU-HA36
  
  Case#: UQU-HA36, Male, 6-months-old, Saudi Arabia
  
  DiseaseAssertion: Hemophilia A
  
  FamilyInfo: NA
  
  ParentalTesting: NA
  
  CasePresentingHPOs: NA
  
  CaseHPOFreeText: PTT 125.4, Severe, Disabled right knees, left elbow, and ankle
  
  CasePreviousTesting: Screened for inversion 22 by inverse PCR, screened for inversion 1 by multiplexed PCR, capillary sequencing (Sanger method) was performed for factor VIII all 26 exons
  
  Gene: F8
  
  Variant: NM_000132.3:c.409A>C (p.Thr137Pro)
  
  ClinVar: NA
  
  CAID: CA414919795
  
  gnomAD: Not reported
  
  CAID:CA414919795 Mutation:Missense InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency ParentalTest:Unknown Zygosity:NoZygosityAssertion CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

CAID:CA414910775

Mutation:Nonsense

DiseaseEntity:FactorVIIIDeficiency

ClinVarID:10587

ClinGen Coag Fac Def VCEP

ClinVarID:10613

CAID:CA414919795

CAID:CA255344

HGNC:3546

DiseaseEntity:FactorIXDeficiency

CAID:CA255394

Mutation:Missense

inferred_gene_hgnc:3546

Gene:F8

InheritancePattern:NoInheritanceAssertion

HGNC:3551

CAID:CA414441211

Zygosity:NoZygosityAssertion

Gene:F9

ParentalTest:Unknown

inferred_gene_source:hgnc_tag

inferred_gene_hgnc:3551

CaseInfo

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC5330775/
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 23 Oct 2026
  
  in Baseline Annotations
  
  First report on UK database of haemophilia B mutations and pedigrees. UK Haemophilia Centres
  
  PMID: 8091381
  
  Gene: F9
  
  HGNC: 3551
  
  General Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

General

Gene:F9

ClinGen Coag Fac Def VCEP

inferred_gene_hgnc:3551

inferred_gene_source:Gene_Name

Annotators

ClingenBaseline

URL

pubmed.ncbi.nlm.nih.gov/8091381/
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 23 Oct 2026
  
  in Baseline Annotations
  
  Table 1.
  
  No evidence of NM_000133.4:c.84T>G (p.Cys28Trp) in this paper.
  
  NoCaseLevelEvidence inferred_gene_hgnc:3551 inferred_gene_source:RefSeq ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

inferred_gene_source:RefSeq

NoCaseLevelEvidence

ClinGen Coag Fac Def VCEP

inferred_gene_hgnc:3551

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

Analysis of F9 point mutations and their correlation to severity of haemophilia B disease

4
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  R46S
  
  Case#: N/A
  
  DiseaseAssertion: Severe Hemophilia B
  
  FamilyInfo: None
  
  ParentalTesting: None
  
  CasePresentingHPOs: HP:0001929
  
  CaseHPOsFreeText: reduced factor IX activity
  
  CaseNotHPOs: N/A
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: NM_000133.4:c.138G>T (p.Arg46Ser)
  
  ClinVar: Absent
  
  CAID: CA414435596
  
  gnomAD: Absent/Not Reported
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414435594 Zygosity:NoZygosityAssertion ParentalTest:Unknown FIXTesting:None DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
2. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  K45N
  
  Case#: N/A
  
  DiseaseAssertion: Severe Hemophilia B
  
  FamilyInfo: None
  
  ParentalTesting: None
  
  CasePresentingHPOs: HP:0001929
  
  CaseHPOsFreeText: reduced factor IX activity
  
  CaseNotHPOs: N/A
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: NM_000133.4:c.135G>T (p.Lys45Asn)
  
  ClinVar: Absent
  
  CAID: CA414435576
  
  gnomAD: Absent/Not Reported
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435576 ParentalTest:Unknown FIXTesting:None DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
3. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Table 1.
  
  No evidence of NM_000133.4:c.84T>G (p.Cys28Trp) in this paper.
  
  NoCaseLevelEvidence inferred_gene_hgnc:3551 inferred_gene_source:RefSeq ClinGen Coag Fac Def VCEP
4. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Analysis of F9 point mutations and their correlation to severity of haemophilia B disease
  
  PMID: 22639855
  
  Gene: F9
  
  HGNC: 3551
  
  General Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

InheritancePattern:X-Linked

NoCaseLevelEvidence

DiseaseSeverity:Severe

inferred_gene_source:RefSeq

ClinGen Coag Fac Def VCEP

DiseaseEntity:FactorIXDeficiency

Mutation:Missense

CAID:CA414435576

inferred_gene_source:CAID

inferred_gene_source:Gene_Name

CAID:CA414435594

Zygosity:NoZygosityAssertion

FIXTesting:None

ParentalTest:Unknown

General

Gene:F9

inferred_gene_hgnc:3551

CaseInfo

Annotators

ClingenBaseline

URL

onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2012.02848.x
www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu

A recoded view on the F9 p.Cys178Ter pathogenic mechanism

2
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  A recoded view on the F9 p.Cys178Ter pathogenic mechanism
  
  PMID:31978811
  
  Gene: F9
  
  HGNC: 3551
  
  General Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
2. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Table 1
  
  Case#: N/A
  
  DiseaseAssertion: Severe/Moderate Hemophilia B
  
  FamilyInfo: N/A
  
  ParentalTesting: None
  
  CasePresentingHPOs: HP:0001929
  
  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:None ParentalTest:Unknown DiseaseSeverity:Moderate-Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

InheritancePattern:X-Linked

ClinGen Coag Fac Def VCEP

CaseInfo

DiseaseEntity:FactorIXDeficiency

Mutation:Missense

inferred_gene_source:CAID

DiseaseSeverity:Moderate-Severe

CAID:CA414434483

Zygosity:NoZygosityAssertion

FIXTesting:None

ParentalTest:Unknown

General

Gene:F9

inferred_gene_hgnc:3551

inferred_gene_source:Gene_Name

Annotators

ClingenBaseline

URL

www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0049384820300256
illiad.lib.unc.edu illiad.lib.unc.edu

3072516.pdf

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Case#: Calgary 4
  
  DiseaseAssertion: Hemophilia B
  
  FamilyInfo: 9 carrier females, 3 affected males, 1 female obligate carrier
  
  ParentalTesting: N/A
  
  CasePresentingHPOs: HP:0001929
  
  CaseHPOsFreeText: reduced factor IX activity
  
  CaseNotHPOs: N/A
  
  CaseNotHPOFreeText: N/A
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: c.19A>T (p.Ile7Phe)
  
  LegacyVariant: c.48A>T (p.Ile-40Phe)
  
  ClinVar: Absent
  
  CAID: CA10529708
  
  gnomAD: Filtering AF: 0.0007752 (no homozygotes)
  
  Variant: NM_000133.3:c.1150C>T (p.Arg384Ter)
  
  LegacyVariant: c.31133C>T (p.Arg338Ter)
  
  ClinVar: Absent
  
  CAID: CA255399
  
  gnomAD: Absent/Not Reported
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA10529708 Mutation:Nonsense CAID:CA255399 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

InheritancePattern:X-Linked

Mutation:Nonsense

CAID:CA10529708

ClinGen Coag Fac Def VCEP

DiseaseEntity:FactorIXDeficiency

Mutation:Missense

inferred_gene_hgnc:3551

Gene:F9

inferred_gene_source:CAID

CAID:CA255399

CaseInfo

Annotators

ClingenBaseline

URL

illiad.lib.unc.edu/NOH/illiad.dll
ashpublications-org.libproxy.lib.unc.edu ashpublications-org.libproxy.lib.unc.edu

Genetic determinants of VWF clearance and FVIII binding modify FVIII pharmacokinetics in pediatric hemophilia A patients

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Genetic determinants of VWF clearance and FVIII binding modify FVIII pharmacokinetics in pediatric hemophilia A patients
  
  PMID: 31350267
  
  Gene: F8
  
  HGNC: 3546
  
  InsufficientEvidence: This article groups together all 43 patients so there are no individual case reports that are mentioned
  
  ClinGen General HGNC:3546 InsufficientEvidence inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

ClinGen

HGNC:3546

InsufficientEvidence

General

inferred_gene_hgnc:3546

inferred_gene_source:hgnc_tag

ClinGen Coag Fac Def VCEP

Annotators

ClingenBaseline

URL

ashpublications-org.libproxy.lib.unc.edu/blood/article/134/11/880/273874/Genetic-determinants-of-VWF-clearance-and-FVIII
www-jbc-org.libproxy.lib.unc.edu www-jbc-org.libproxy.lib.unc.edu

Factor IX San Dimas

1
1. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 Factor IX San Dima
 
 Case#: Factor IX San Dimas Case
 
 DiseaseAssertion: Severe Hemophilia B
 
 FamilyInfo: None
 
 ParentalTesting: N/A
 
 CasePresentingHPOs: HP:0011858
 
 CaseHPOsFreeText: reduced factor IX activity (FIX:Ag 98%; FIX:C: <0.01)
 
 CaseNotHPOs: N/A
 
 CasePreviousTesting: DNA Seq analysis of the Factor IX gene (FIX:Ag 98%; FIX:C: <0.01)
 
 Gene: F9
 
 Variant: NM_000133.4:c.128G>A (p.Arg43Gln)
 
 LegacyVariant: 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:Full ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

InheritancePattern:X-Linked

DiseaseSeverity:Severe

ClinGen Coag Fac Def VCEP

FIXTesting:Full

CAID:CA414435539

Zygosity:NoZygosityAssertion

DiseaseEntity:FactorIXDeficiency

ParentalTest:Unknown

Mutation:Missense

Gene:F9

inferred_gene_source:CAID

inferred_gene_hgnc:3551

CaseInfo

Annotators

ClingenBaseline

URL

www-jbc-org.libproxy.lib.unc.edu/article/S0021-9258(18)60478-8/pdf
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Profil du facteur Von Willebrand dans la grossesse: étude descriptive chez 390 femmes enceintes au Maroc

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Von Willebrand factor profile in pregnancy: a descriptive study of 390 pregnant women in Morocco
  
  PMID: 31447989
  
  Gene: F8
  
  NoEvidence: This paper does not mention the gene F8; however, it does discuss VWF.
  
  ClinGen General Gene:F8 NoEvidence inferred_gene_hgnc:3546 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

ClinGen

NoEvidence

General

inferred_gene_hgnc:3546

ClinGen Coag Fac Def VCEP

Gene:F8

inferred_gene_source:Gene_Name

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC6691299/
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 23 Oct 2026
  
  in Baseline Annotations
  
  Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B
  
  PMID: 18624698
  
  Gene: F9
  
  HGNC: 3551
  
  General Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

General

Gene:F9

ClinGen Coag Fac Def VCEP

inferred_gene_hgnc:3551

inferred_gene_source:Gene_Name

Annotators

ClingenBaseline

URL

onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2008.01796.x
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Extended half‐life rFIX in major surgery—How to improve clinical practice: An intraindividual comparison

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Extended half‐life rFIX in major surgery—How to improve clinical practice: An intraindividual comparison
  
  PMID: 32185052
  
  Gene: F9
  
  HGNC: 3551
  
  General Gene:F9 NoCaseLevelEvidence inferred_gene_hgnc:3551 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

NoCaseLevelEvidence

General

Gene:F9

ClinGen Coag Fac Def VCEP

inferred_gene_hgnc:3551

inferred_gene_source:Gene_Name

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC7069879/
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu

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

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family R. Schwaab, Institute for Experimental Haematology and Transfusion Medicine, Sigmund-Freud-Str. 25, 53105 Bonn, Germany,Search for more papers by this authorJ. Oldenburg, Institute for Experimental Haematology and Transfusion Medicine, Sigmund-Freud-Str. 25, 53105 Bonn, Germany, Department of Human Genetics, Biozentrum, Am Hubland, 97074 Würzburg, Germany,Search for more papers by this authorG. Kemball-Cook, Haemostasis Research Group, MRC Clinical Sciences Centre, Imperial College Medical School, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK, andSearch for more papers by this authorT. Albert, Institute for Experimental Haematology and Transfusion Medicine, Sigmund-Freud-Str. 25, 53105 Bonn, Germany,Search for more papers by this authorC. Juhler, University Hospital Skejby, Department of Clinical Immunology, Centre for Haemophilia and Thrombosis, DK-8200 Aarhus N, Denmark Search for more papers by this authorP. Hanfland, Institute for Experimental Haematology and Transfusion Medicine, Sigmund-Freud-Str. 25, 53105 Bonn, Germany,Search for more papers by this authorJ. Ingerslev, University Hospital Skejby, Department of Clinical Immunology, Centre for Haemophilia and Thrombosis, DK-8200 Aarhus N, Denmark Search for more papers by this author
  
  PMID: 10886198
  
  Gene: F8
  
  HGNCID: 3546
  
  General Gene:F8 HGNC:3546 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
Visit annotations in context

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HGNC:3546

General

inferred_gene_hgnc:3546

inferred_gene_source:hgnc_tag

ClinGen Coag Fac Def VCEP

Gene:F8

Annotators

ClingenBaseline

URL

onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1046/j.1365-2141.2000.02021.x
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov

Molecular analysis of hemophilia B in Poland: 12 novel mutations of the factor IX gene

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Molecular analysis of hemophilia B in Poland: 12 novel mutations of the factor IX gene
  
  PMID: 10698280
  
  Gene: F9
  
  HGNC: 3551
  
  General Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

General

Gene:F9

ClinGen Coag Fac Def VCEP

inferred_gene_hgnc:3551

inferred_gene_source:Gene_Name

Annotators

ClingenBaseline

URL

pubmed.ncbi.nlm.nih.gov/10698280/
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu

Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations

3
1. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 c.138G>C p.Arg46Ser
 
 Case#: Guo_Proband_5 (assumed male; Chinese)
 
 DiseaseAssertion: Severe Hemophilia B
 
 FamilyInfo: N/A
 
 ParentalTesting: None
 
 CasePresentingHPOs: HP:0011858
 
 CaseHPOsFreeText: reduced factor IX activity FIX:C: <1 %; FIX:Ag: 35)
 
 CaseNotHPOs: N/A
 
 CasePreviousTesting: N/A
 
 Gene: F9
 
 Variant: NM_000133.4:c.138G>C (p.Arg46Ser)
 
 ClinVar: Absent
 
 CAID: CA414435594
 
 gnomAD: Absent/Not Reported
 
 Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense FIXTesting:Full ParentalTest:Unknown DiseaseSeverity:Severe CAID:CA414435594 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
2. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 Case#: Guo_Family 2_Proband 1 (Chinese, assumed male)
 
 DiseaseAssertion: Moderate Hemophilia B
 
 FamilyInfo: None
 
 ParentalTesting: N/A
 
 CasePresentingHPOs: HP:0011858
 
 CaseHPOsFreeText: FIX:Ag: 1.6%, FIX:C: 2.1%
 
 CaseNotHPOs: N/A
 
 CasePreviousTesting: N/A
 
 Gene: F9
 
 Variant: NM_000133.4:c.59T>C (p.Leu20Ser)
 
 ClinVar: Absent
 
 CAID: CA414434363
 
 gnomAD: Absent/Not Reported
 
 Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414434363 FIXTesting:Full ParentalTest:Unknown DiseaseSeverity:Moderate ExperimentalAssay inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
3. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations
 
 PMID: 25251685
 
 Gene: F9
 
 HGNC: 3551
 
 General Gene:F9 ExperimentalAssay inferred_gene_hgnc:3551 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

InheritancePattern:X-Linked

DiseaseSeverity:Severe

DiseaseSeverity:Moderate

ClinGen Coag Fac Def VCEP

ExperimentalAssay

DiseaseEntity:FactorIXDeficiency

Mutation:Missense

inferred_gene_source:CAID

CAID:CA414434363

inferred_gene_source:Gene_Name

CAID:CA414435594

FIXTesting:Full

ParentalTest:Unknown

General

Gene:F9

inferred_gene_hgnc:3551

CaseInfo

Annotators

ClingenBaseline

URL

onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/pdf/10.1111/hae.12534
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu

Heteroduplex screening for molecular defects in factor IX genes from haemophilia B families

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  PMID: 7873393
  
  Gene: F9
  
  HGNC: 3551
  
  General Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

General

Gene:F9

ClinGen Coag Fac Def VCEP

inferred_gene_hgnc:3551

inferred_gene_source:Gene_Name

Annotators

ClingenBaseline

URL

onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/pdf/10.1111/j.1365-2141.1995.tb03319.x
pdf.sciencedirectassets.com pdf.sciencedirectassets.com

PII: 0049-3848(92)90249-A

2
1. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 (6372)
 
 Case#: Patient E (assumed male)
 
 DiseaseAssertion: Severe, Familial Hemophilia B
 
 FamilyInfo: Mothers were heterozygous, but patient E’s sister and aunt were non-carriers (homozygous for the cleavage)
 
 ParentalTesting: Mothers were heterozygous, but patient E’s sister and aunt were non-carriers (homozygous for the cleavage)
 
 CasePresentingHPOs: HP:0011858
 
 CasePresentingHPOsFreeText: reduced factor IX activity (FIX:C: <1; FIX:Ag:37/38)
 
 CaseNotHPOs: N/A
 
 CasePreviousTesting: N/A
 
 Gene: F9
 
 Variant: NM_000133.4:c.135G>T (p.Lys45Asn)
 
 ClinVar: Absent/Not Reported
 
 CAID: CA414435576
 
 gnomAD: Absent/Not Reported
 
 Gene: F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435576 ParentalTest:Unknown FIXTesting:Full DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
2. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 Arg- > Gln
 
 Case#: Patient D (assumed male)
 
 DiseaseAssertion: Severe, Sporadic Hemophilia B
 
 FamilyInfo: Patient D's mother is heterozygous and she has had a second, affected son. the maternal grandmother's DNA was also heterozygous
 
 ParentalTesting: Mother was heterozygous for the variant
 
 CasePresentingHPOs: HP:0011858
 
 CasePresentingHPOsFreeText: reduced factor IX activity (FIX:C: <1; FIX:Ag:41)
 
 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:Full ParentalTest:Mother DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

InheritancePattern:X-Linked

DiseaseSeverity:Severe

ClinGen Coag Fac Def VCEP

DiseaseEntity:FactorIXDeficiency

Mutation:Missense

ParentalTest:Mother

inferred_gene_source:CAID

FIXTesting:Full

CAID:CA414435539

Gene: F9

Zygosity:NoZygosityAssertion

Gene:F9

ParentalTest:Unknown

CAID:CA414435576

inferred_gene_hgnc:3551

CaseInfo

Annotators

ClingenBaseline

URL

pdf.sciencedirectassets.com/271043/1-s2.0-S0049384800X04367/1-s2.0-004938489290249A/main.pdf
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative

2
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Click here for additional data file.(
  
  NM_000133.4:c.137G>A (p.Arg46Lys) is mentioned in this paper, however, there is no case level data associated with the mentioned variant.
  
  NoCaseLevelEvidence inferred_gene_hgnc:3551 inferred_gene_source:RefSeq ClinGen Coag Fac Def VCEP
2. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Click here for additional data file.
  
  Case#: N/A
  
  DiseaseAssertion: Hemophilia B (severity not specified)
  
  FamilyInfo: Not provided
  
  ParentalTesting: Not provided
  
  CasePresentingHPOs: Not provided
  
  CaseNotHPOs: N/A
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: NM_000133.4:c.86C>T (p.Thr29Ile)
  
  ClinVar: Absent
  
  CAID: CA414434494
  
  gnomAD: Absent/NotReported
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414434494 FIXTesting:None ParentalTest:Unknown inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

InheritancePattern:X-Linked

NoCaseLevelEvidence

ClinGen Coag Fac Def VCEP

DiseaseEntity:FactorIXDeficiency

Mutation:Missense

inferred_gene_source:CAID

Zygosity:NoZygosityAssertion

Gene:F9

FIXTesting:None

ParentalTest:Unknown

inferred_gene_hgnc:3551

CAID:CA414434494

inferred_gene_source:RefSeq

CaseInfo

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC5727804/
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Single Domain Antibody Fragments as New Tools for the Detection of Neuronal Tau Protein in Cells and in Mice Studies. - PubMed - NCBI

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Single Domain Antibody Fragments as New Tools for the Detection of Neuronal Tau Protein in Cells and in Mice Studies.
  
  PMID: 31380615
  
  Gene: F8
  
  No Evidence: This article does not discuss F8.
  
  ClinGen General Gene:F8 NoEvidence inferred_gene_hgnc:3546 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
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Tags

ClinGen

NoEvidence

General

inferred_gene_hgnc:3546

ClinGen Coag Fac Def VCEP

Gene:F8

inferred_gene_source:Gene_Name

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pubmed/31380615
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

2
1. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 Case#: IG2 (Italian, assumed male)
 
 DiseaseAssertion: Severe Hemophilia B
 
 FamilyInfo: Not provided
 
 ParentalTesting: Not provided
 
 CasePresentingHPOs: HP:0011858
 
 CaseHPOsFreeText: reduced factor IX activity (FIX:C: <1%, FIX:Ag: 15-53)
 
 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:Full ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
2. 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

InheritancePattern:X-Linked

DiseaseSeverity:Severe

FIXTesting:Partial

ClinGen Coag Fac Def VCEP

DiseaseEntity:FactorIXDeficiency

Mutation:Missense

inferred_gene_source:CAID

FIXTesting:Full

CAID:CA414434483

CAID:CA414435539

Zygosity:NoZygosityAssertion

ParentalTest:Unknown

Gene:F9

inferred_gene_hgnc:3551

CaseInfo

Annotators

ClingenBaseline

URL

onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2006.01275.x
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

2
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
2. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis
  
  PMID: 8217825
  
  Gene: F9
  
  HGNC: 3551
  
  General Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

InheritancePattern:X-Linked

FIXTesting:Partial

inferred_gene_source:Gene_Name

ClinGen Coag Fac Def VCEP

CAID:CA414435539

Zygosity:NoZygosityAssertion

DiseaseEntity:FactorIXDeficiency

ParentalTest:Unknown

General

Mutation:Missense

Gene:F9

inferred_gene_source:CAID

inferred_gene_hgnc:3551

CaseInfo

Annotators

ClingenBaseline

URL

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

Identification of a novel mutation in the factor VIII gene causing severe haemophilia A

1
1. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 A 68-year-old male was diagnosed with severe HEMA in early childhood
 
 Case#: 68 year old male
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: Mother was a carrier and brother also suffered from severe Hemophilia A
 
 ParentalTesting: No
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 0.001%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: Whole exome sequencing was performed and subsequently analyzed
 
 Gene: F8
 
 Variant: NM_000132.3:c.5411_5413del
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: NA
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 InheritancePattern:Xlinked DiseaseSeverity:SevereHemophiliaA PreviousTesting:None FVIIItesting:Full ParentalTest:Unknown FamilyInfo DiseaseEntity:FactorVIIIDeficiency Zygosity:Hemizygous Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:InframeDel UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

DiseaseEntity:FactorVIIIDeficiency

Inhibitor:Absent

DiseaseSeverity:SevereHemophiliaA

ClinGen Coag Fac Def VCEP

Zygosity:Hemizygous

ParentalTest:Unknown

HGNC:3546

inferred_gene_hgnc:3546

Gene:F8

UnregisteredVariant

InheritancePattern:Xlinked

FVIIItesting:Full

AssayDiscrepancy:NotReported

PreviousTesting:None

Mutation:InframeDel

FamilyInfo

inferred_gene_source:hgnc_tag

CaseInfo

Annotators

ClingenBaseline

URL

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

Design and characterisation of a novel interleukin-15 receptor alpha fusion protein and analysis of interleukin-15 complexation

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Design and characterisation of a novel interleukin-15 receptor alpha fusion protein and analysis of interleukin-15 complexation
  
  PMID: 31348785
  
  Gene: F8
  
  No Evidence: This article does not mention F8 or Hemophilia A
  
  ClinGen General Gene:F8 NoEvidence inferred_gene_hgnc:3546 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
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Tags

ClinGen

NoEvidence

General

inferred_gene_hgnc:3546

ClinGen Coag Fac Def VCEP

Gene:F8

inferred_gene_source:Gene_Name

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC6660064/
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

InheritancePattern:X-Linked

FIXTesting:Partial

DiseaseSeverity:Moderate

ClinGen Coag Fac Def VCEP

CAID:CA414435539

Zygosity:NoZygosityAssertion

DiseaseEntity:FactorIXDeficiency

ParentalTest:Unknown

Gene:F9

inferred_gene_source:CAID

inferred_gene_hgnc:3551

CaseInfo

Annotators

ClingenBaseline

URL

pubmed.ncbi.nlm.nih.gov/8772212/
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory
  
  PMID: 29754767
  
  Gene: F8
  
  HGNC: 3546
  
  InsufficientEvidence: This article mentions a F8 variant however does not have a detailed case report for a proband
  
  ClinGen General InsufficientEvidence HGNC:3546 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

ClinGen

HGNC:3546

InsufficientEvidence

General

inferred_gene_hgnc:3546

inferred_gene_source:hgnc_tag

ClinGen Coag Fac Def VCEP

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC5992121/
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

2
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
2. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 Mutation Analysis in F9 Gene of 17 Families with Haemophilia B from Iran
 
 PMID: 15569175
 
 Gene: F9
 
 HGNC: 3551
 
 General Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

InheritancePattern:X-Linked

DiseaseSeverity:Severe

FIXTesting:Partial

inferred_gene_source:Gene_Name

ClinGen Coag Fac Def VCEP

CAID:CA414435539

Zygosity:NoZygosityAssertion

DiseaseEntity:FactorIXDeficiency

General

Mutation:Missense

inferred_gene_hgnc:3551

Gene:F9

inferred_gene_source:CAID

ParentalTest:Mother

CaseInfo

Annotators

ClingenBaseline

URL

onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2004.01041.x
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

High resolution melting for F9 gene mutation analysis in patients with haemophilia B

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  c.59T>C
  
  Case#: Salviato_Proband_1164 (male, Chinese)
  
  DiseaseAssertion: Hemophilia B
  
  FamilyInfo: N/A
  
  ParentalTesting: N/A
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOsFreeText: reduced factor IX activity
  
  CaseNotHPOs: N/A
  
  CaseNotHPOFreeText: N/A
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: NM_000133.4:c.59T>C (p.Leu20Ser)
  
  ClinVar: Absent
  
  CAID: CA414434363
  
  gnomAD: Absent/Not Reported
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414434363 FIXTesting:None inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

InheritancePattern:X-Linked

CAID:CA414434363

ClinGen Coag Fac Def VCEP

DiseaseEntity:FactorIXDeficiency

FIXTesting:None

Mutation:Missense

Gene:F9

inferred_gene_source:CAID

inferred_gene_hgnc:3551

CaseInfo

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC6343595/
link.springer.com link.springer.com

Outcomes After Urgent Thyroidectomy Following Rapid Control of Thyrotoxicosis in Graves' Disease are Similar to Those After Elective Surgery in Well-Controlled Disease.

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Outcomes After Urgent Thyroidectomy Following Rapid Control of Thyrotoxicosis in Graves’ Disease are Similar to Those After Elective Surgery in Well-Controlled Disease
  
  PMID: 31430659
  
  Gene: F8
  
  No Evidence: This article discusses Graves Disease, there is no mention of Hemophilia A or F8.
  
  ClinGen General Gene:F8 NoEvidence inferred_gene_hgnc:3546 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
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ClinGen

NoEvidence

General

inferred_gene_hgnc:3546

ClinGen Coag Fac Def VCEP

Gene:F8

inferred_gene_source:Gene_Name

Annotators

ClingenBaseline

URL

link.springer.com/article/10.1007/s00268-019-05125-5
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants
  
  PMID: 31257730
  
  Gene: F9
  
  HGNC: 3551
  
  General Gene:F9 NoCaseLevelEvidence inferred_gene_hgnc:3551 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

NoCaseLevelEvidence

General

Gene:F9

ClinGen Coag Fac Def VCEP

inferred_gene_hgnc:3551

inferred_gene_source:Gene_Name

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC6687662/
oce-ovid-com.libproxy.lib.unc.edu oce-ovid-com.libproxy.lib.unc.edu

Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia a in southern Italy | Ovid

6
1. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 Table 1
 
 Case#: Cz6, Italy (Calabria)
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: Sporadic
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVII:C <1%
 
 CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method
 
 Gene: F8
 
 Variant: NM_000132.3(F8):c.4156C>T (p.Gln1386Ter)
 
 ClinVar: NA
 
 CAID: CA414891965
 
 gnomAD: Not reported
 
 CaseInfo HGNC:3546 InheritancePattern:DeNovoAssertion CAID:CA414891965 DiseaseEntity:FactorVIIIDeficiency ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial Gene:F8 Mutation:Nonsense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
2. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 Table 2
 
 Case#: Cz40, Italy (Calabria)
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: Inherited
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVII:C 2.5%
 
 CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method
 
 Gene: F8
 
 Variant: NM_000132.3:c.1538-18G>A
 
 ClinVar: 811357 https://www.ncbi.nlm.nih.gov/clinvar/variation/811357/
 
 CAID: CA873354114
 
 gnomAD: Not reported
 
 CAID:CA873354114 Zygosity:NoZygosityAssertion InheritancePattern:Xlinked DiseaseEntity:FactorVIIIDeficiency ClinVarID:811357 FVIIItesting:Partial ParentalTest:Unknown Mutation:Intronic CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
3. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 Table 2
 
 Case#: Cz5, Italy (Calabria)
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: Inherited
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVII:C 4%
 
 CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method
 
 Gene: F8
 
 Variant: NM_000132.3:c.1538-18G>A
 
 ClinVar: 811357 https://www.ncbi.nlm.nih.gov/clinvar/variation/811357/
 
 CAID: CA873354114
 
 gnomAD: Not reported
 
 DiseaseEntity:FactorVIIIDeficiency InheritancePattern:Xlinked Zygosity:NoZygosityAssertion FVIIItesting:Partial ParentalTest:Unknown CAID:CA873354114 ClinVarID:811357 Mutation:Intronic HGNC:3546 CaseInfo Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
4. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 Table 2
 
 Case#: Cz13, Italy (Calabria)
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: Inherited
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVII:C 4%
 
 CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method
 
 Gene: F8
 
 Variant: NM_000132.3:c.1538-18G>A
 
 ClinVar: 811357 https://www.ncbi.nlm.nih.gov/clinvar/variation/811357/
 
 CAID: CA873354114
 
 gnomAD: Not reported
 
 InheritancePattern:Xlinked DiseaseEntity:FactorVIIIDeficiency ParentalTest:Unknown FVIIItesting:Partial Zygosity:NoZygosityAssertion CAID:CA873354114 ClinVarID:811357 Mutation:Intronic CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
5. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 Table 1
 
 Case#: Cz7, Italy (Calabria)
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: Sporadic
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVII:C <1%
 
 CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method
 
 Gene: F8
 
 Variant: NM_000132.3(F8):c.5143C>T (p.Arg1715Ter)
 
 ClinVar: 10267 https://www.ncbi.nlm.nih.gov/clinvar/variation/10267/
 
 CAID: CA255155
 
 gnomAD: Not reported
 
 CaseInfo HGNC:3546 InheritancePattern:DeNovoAssertion DiseaseEntity:FactorVIIIDeficiency ParentalTest:Unknown Zygosity:NoZygosityAssertion ClinVarID:10267 CAID:CA255155 FVIIItesting:Partial Gene:F8 Mutation:Nonsense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
6. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 Table 2
 
 Case#: Cz16, Italy (Calabria)
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: Sporadic
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVII:C 4%
 
 CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method
 
 Gene: F8
 
 Variant: NM_000132.3:c.1538-18G>A
 
 ClinVar: 811357 https://www.ncbi.nlm.nih.gov/clinvar/variation/811357/
 
 CAID: CA873354114
 
 gnomAD: Not reported
 
 InheritancePattern:DeNovoAssertion FVIIItesting:Partial ParentalTest:Unknown DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion CAID:CA873354114 ClinVarID:811357 Mutation:Intronic CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

Mutation:Nonsense

DiseaseEntity:FactorVIIIDeficiency

FVIIItesting:Partial

CAID:CA255155

ClinGen Coag Fac Def VCEP

CAID:CA414891965

HGNC:3546

inferred_gene_hgnc:3546

Gene:F8

CAID:CA873354114

ClinVarID:10267

ClinVarID:811357

InheritancePattern:Xlinked

InheritancePattern:DeNovoAssertion

Mutation:Intronic

Zygosity:NoZygosityAssertion

ParentalTest:Unknown

inferred_gene_source:hgnc_tag

CaseInfo

Annotators

ClingenBaseline

URL

oce-ovid-com.libproxy.lib.unc.edu/article/00001721-200804000-00003/HTML
www.actabp.pl www.actabp.pl

untitled

2
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Case#: 043 (GB); Polish origin
  
  DiseaseAssertion: Moderate Hemophilia B
  
  FamilyInfo: Not provided
  
  ParentalTesting: Not provided
  
  CasePresentingHPOs: HP:0011858
  
  CasePresentingHPOsFreeText: FIX:C : 4; FIX:Ag : 4
  
  CaseNotHPOs: N/A
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: NM_000133.4:c.82T>C (p.Cys28Arg)
  
  ClinVar: 10657
  
  CAID: CA255450
  
  gnomAD: Absent/Not Reported
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA255450 FIXTesting:Full ParentalTest:Unknown DiseaseSeverity:Moderate inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
2. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Case#: 014 (AD); Polish origin
  
  DiseaseAssertion: Moderate Hemophilia B
  
  FamilyInfo: Not provided
  
  ParentalTesting: Not provided
  
  CasePresentingHPOs: HP:0011858
  
  CasePresentingHPOsFreeText: FIX:C : 2; FIX:Ag : 65
  
  CaseNotHPOs: N/A
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: NM_000133.4:c.138G>T (p.Arg46Ser)
  
  ClinVar: Absent/Not Reported
  
  CAID: CA414435596
  
  gnomAD: Absent/Not Reported
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense ParentalTest:Unknown FIXTesting:Full Zygosity:NoZygosityAssertion DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

InheritancePattern:X-Linked

DiseaseSeverity:Severe

DiseaseSeverity:Moderate

ClinGen Coag Fac Def VCEP

DiseaseEntity:FactorIXDeficiency

Mutation:Missense

inferred_gene_source:CAID

CAID:CA255450

FIXTesting:Full

Zygosity:NoZygosityAssertion

ParentalTest:Unknown

Gene:F9

inferred_gene_hgnc:3551

CaseInfo

Annotators

ClingenBaseline

URL

actabp.pl/pdf/3_1999/721.pdf
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Characterization of missense mutations in the signal peptide and propeptide of FIX in hemophilia B by a cell-based assay

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Characterization of missense mutations in the signal peptide and propeptide of FIX in hemophilia B by a cell-based assay
  
  PMID: 32766856
  
  Gene: F9
  
  HGNC: 3551
  
  General Gene:F9 NoCaseLevelEvidence inferred_gene_hgnc:3551 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

NoCaseLevelEvidence

General

Gene:F9

ClinGen Coag Fac Def VCEP

inferred_gene_hgnc:3551

inferred_gene_source:Gene_Name

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC7422117/
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 23 Oct 2026
  
  in Baseline Annotations
  
  Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data
  
  PMID: 11298607
  
  Gene: F9
  
  HGNC: 3551
  
  General Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

General

Gene:F9

ClinGen Coag Fac Def VCEP

inferred_gene_hgnc:3551

inferred_gene_source:Gene_Name

Annotators

ClingenBaseline

URL

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

Molecular genotyping of the Italian cohort of patients with hemophilia B

3
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Molecular genotyping of the Italian cohort of patients with hemophilia B
  
  PMID: 15921378
  
  Gene: F9
  
  HGNC: 3551
  
  General Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
2. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  identify the causative mutation
  
  Case#: Belvini_Proband_13 (male, Italian)
  
  DiseaseAssertion: Severe Hemophilia B
  
  FamilyInfo: N/A
  
  ParentalTesting: N/A
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOsFreeText: reduced factor IX activity
  
  CaseNotHPOs: N/A
  
  CaseNotHPOFreeText: N/A
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: NM_000133.4:c.110C>A (p.Ala37Asp)
  
  ClinVar: Absent
  
  CAID: CA414435430
  
  gnomAD: Absent/Not Reported
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414435430 ParentalTest:Unknown DiseaseSeverity:Severe FIXTesting:None inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
3. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  mutation
  
  Case#: Belvini_Proband_16 (Italian)
  
  DiseaseAssertion: Severe Hemophilia B
  
  FamilyInfo: N/A
  
  ParentalTesting: N/A
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOsFreeText: reduced factor IX activity
  
  CaseNotHPOs: N/A
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant:NM_000133.4:c.135G>C (p.Lys45Asn)
  
  ClinVar: Absent
  
  CAID: CA414435574
  
  gnomAD: Absent/Not Reported
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414435574 ParentalTest:Unknown FIXTesting:None DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

InheritancePattern:X-Linked

DiseaseSeverity:Severe

ClinGen Coag Fac Def VCEP

CaseInfo

DiseaseEntity:FactorIXDeficiency

Mutation:Missense

inferred_gene_source:CAID

CAID:CA414435430

FIXTesting:None

ParentalTest:Unknown

General

Gene:F9

CAID:CA414435574

inferred_gene_hgnc:3551

inferred_gene_source:Gene_Name

Annotators

ClingenBaseline

URL

haematologica.org/article/view/3523
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  The final list of mutations is provided in Supplementary Table S1.
  
  Case#: N/A
  
  DiseaseAssertion: Severe Hemophilia B
  
  FamilyInfo: N/A
  
  ParentalTesting: N/A
  
  CasePresentingHPOs: N/A
  
  CaseHPOsFreeText: N/A
  
  CaseNotHPOs: N/A
  
  CasePreviousTesting: N/A
  
  Gene: F9
  
  Variant: NM_000133.4:c.68T>C (p.Leu23Pro)
  
  ClinVar: Absent
  
  CAID: CA414434403
  
  gnomAD: Absent/NotReported
  
  Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414434403 DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

InheritancePattern:X-Linked

DiseaseSeverity:Severe

ClinGen Coag Fac Def VCEP

DiseaseEntity:FactorIXDeficiency

Mutation:Missense

CAID:CA414434403

Gene:F9

inferred_gene_source:CAID

inferred_gene_hgnc:3551

CaseInfo

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC6606640/
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations
  
  PMID: 32875744
  
  Gene: F9
  
  HGNC: 3551
  
  General Gene:F9 ExperimentalAssay inferred_gene_hgnc:3551 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

General

inferred_gene_source:Gene_Name

Gene:F9

ClinGen Coag Fac Def VCEP

inferred_gene_hgnc:3551

ExperimentalAssay

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC7667291/
illiad.lib.unc.edu illiad.lib.unc.edu

Secretion of wild‐type factor IX upon readthrough over F9 pre‐peptide nonsense mutations causing hemophilia B

1
1. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 Secretion of wild-type factor IX upon readthrough over F9pre-peptide nonsense mutations causing hemophilia B
 
 PMID: 29388273
 
 Gene: F9
 
 HGNC: 3551
 
 General Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

General

Gene:F9

ClinGen Coag Fac Def VCEP

inferred_gene_hgnc:3551

inferred_gene_source:Gene_Name

Annotators

ClingenBaseline

URL

illiad.lib.unc.edu/NOH/illiad.dll
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Molecular basis of hemophilia B: a defective enzyme due to an unprocessed propeptide is caused by a point mutation in the factor IX precursor.

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Molecular basis of hemophilia B: a defective enzyme due to an unprocessed propeptide is caused by a point mutation in the factor IX precursor
  
  PMID: 3461460
  
  Gene: F9
  
  HGNC: 3551
  
  General Gene:F9 NoCaseLevelEvidence inferred_gene_hgnc:3551 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

NoCaseLevelEvidence

General

Gene:F9

ClinGen Coag Fac Def VCEP

inferred_gene_hgnc:3551

inferred_gene_source:Gene_Name

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC386383/
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu

Usefulness of an in vitro cellular expression model for haemophilia A carrier diagnosis: illustration with five novel mutations in the F8 gene in women with isolated factor VIII:C deficiency

2
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Both p.Leu107His substitution (patient P1)
  
  Case#: P1 (female)
  
  DiseaseAssertion: Carrier
  
  FamilyInfo: N/A
  
  ParentalTesting: N/A
  
  CasePresentingHPOs: HP:0003125, HP:0004846, HP:0001892
  
  CaseHPOFreeText: Low FVIII levels (significant decrease in FVIII:C 1.4% ± 0.2 and FVIII:Ag levels 3.9% ± 0.2), prolonged bleeding after surgery, mild bleeding tendency
  
  CaseNotHPOs: N/A
  
  CaseNotHPOFreeText: N/A
  
  CasePreviousTesting: Molecular Analysis included a southern blot assay, PCR, dHPLC and a multiplex ligation-dependent probe amplification analysis. Plasmid mutagenesis, plasmid transfection and in silico analysis were also performed.
  
  Gene: F8
  
  Variant: NM_000132.4:c.320T>A
  
  CAID: CA414920017
  
  gnomAD: Absent/Not Reported
  
  Gene:F8 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorVIIIDeficiency Mutation:Missense CAID:CA414920017 ParentalTest:Unknown Zygosity:Heterozygous inferred_gene_hgnc:3546 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
2. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  The p.Leu2032Pro
  
  Case Info: P6 (female)
  
  DiseaseAssertion: Carrier
  
  FamilyInfo: N/A
  
  ParentalTesting: N/A
  
  CasePresentingHPOs: HP:0003125, HP:0001928, HP:0001892
  
  CaseHPOFreeText: Low FVIII levels (in vitro results were similar to the WT control and led to a normal specific activity (82.7% ± 9.0)), abnormal blood coagulation, mild bleeding tendency
  
  CaseNotHPOs: N/A
  
  CaseNotHPOsFreeText: N/A
  
  CasePreviousTesting: Molecular Analysis included a southern blot assay, PCR, dHPLC and a multiplex ligation-dependent probe amplification analysis. Plasmid mutagenesis, plasmid transfection and in silico analysis were also performed.
  
  Gene: F8
  
  Variant: NM_000132.4:c.6095T>C
  
  CAID: CA414904631
  
  gnomAD: Absent/Not Reported
  
  Gene:F8 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorVIIIDeficiency Mutation:Missense CAID:CA414904631 Zygosity:Heterozygous ParentalTest:Unknown inferred_gene_hgnc:3546 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

InheritancePattern:X-Linked

DiseaseEntity:FactorVIIIDeficiency

ClinGen Coag Fac Def VCEP

Zygosity:Heterozygous

CAID:CA414920017

Mutation:Missense

inferred_gene_hgnc:3546

inferred_gene_source:CAID

Gene:F8

CAID:CA414904631

ParentalTest:Unknown

CaseInfo

Annotators

ClingenBaseline

URL

onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/hae.12651
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

HGNC:3551

ClinVarID:10587

ClinGen Coag Fac Def VCEP

inferred_gene_source:hgnc_tag

CaseInfo

DiseaseEntity:FactorIXDeficiency

Zygosity:NoZygosityAssertion

ParentalTest:Unknown

FIXtesting:Partial

Mutation:Missense

Gene:F9

inferred_gene_hgnc:3551

InheritancePattern:NoInheritanceAssertion

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC5111390/
www.sciencedirect.com www.sciencedirect.com

Factor VIII: Long-established role in haemophilia A and emerging evidence beyond haemostasis

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Factor VIII: Long-established role in haemophilia A and emerging evidence beyond haemostasis
  
  PMID: 30922616
  
  Gene: F8
  
  HGNC: 3546
  
  InsufficientEvidence: This article is a review, it does not mention any new case reports
  
  PreviouslyPublished
  
  ClinGen General HGNC:3546 InsufficientEvidence PreviouslyPublished inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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PreviouslyPublished

ClinGen Coag Fac Def VCEP

ClinGen

HGNC:3546

General

inferred_gene_hgnc:3546

inferred_gene_source:hgnc_tag

InsufficientEvidence

Annotators

ClingenBaseline

URL

sciencedirect.com/science/article/pii/S0268960X18301292
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu

FIX mutation spectrum in haemophilia B patients from Jordan: identification of three novel mutations

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  g.6365G>A
  
  Case#: Awidi_Variant_1 (9 patients, 2 families)
  
  DiseaseAssertion: Severe Hemophilia B
  
  FamilyInfo: Positive family history
  
  ParentalTesting: Positive family history
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOsFreeText: reduced factor IX activity
  
  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 CAID:CA414435539 ParentalTest:Unknown Mutation:Missense DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
Visit annotations in context

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InheritancePattern:X-Linked

DiseaseSeverity:Severe

ClinGen Coag Fac Def VCEP

CAID:CA414435539

Zygosity:NoZygosityAssertion

DiseaseEntity:FactorIXDeficiency

ParentalTest:Unknown

Mutation:Missense

Gene:F9

inferred_gene_source:CAID

inferred_gene_hgnc:3551

CaseInfo

Annotators

ClingenBaseline

URL

onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2010.02365.x
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

1
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
Visit annotations in context

Tags

InheritancePattern:X-Linked

DiseaseSeverity:Severe

FIXTesting:Partial

ClinGen Coag Fac Def VCEP

CAID:CA414435539

Zygosity:NoZygosityAssertion

DiseaseEntity:FactorIXDeficiency

ParentalTest:Unknown

Mutation:Missense

Gene:F9

inferred_gene_source:CAID

inferred_gene_hgnc:3551

CaseInfo

Annotators

ClingenBaseline

URL

pubmed.ncbi.nlm.nih.gov/9600455/
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu

F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Table S3. F9 mutations
  
  Case#: Miller_Proband 2 (male)
  
  DiseaseAssertion: Severe Hemophilia B
  
  FamilyInfo: N/A
  
  ParentalTesting: N/A
  
  CasePresentingHPOs: HP:0011858
  
  CaseHPOsFreeText: reduced factor IX activity
  
  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 DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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InheritancePattern:X-Linked

DiseaseSeverity:Severe

ClinGen Coag Fac Def VCEP

CAID:CA414435539

Zygosity:NoZygosityAssertion

DiseaseEntity:FactorIXDeficiency

ParentalTest:Unknown

Mutation:Missense

Gene:F9

inferred_gene_source:CAID

inferred_gene_hgnc:3551

CaseInfo

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ClingenBaseline

URL

onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2011.02700.x
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov

Hemophilia B carrier determination based on family-specific mutation detection by DNA single-strand conformation analysis

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Hemophilia B carrier determination based on family-specific mutation detection by DNA single-strand conformation analysis
  
  PMID: 8320491
  
  Gene: F9
  
  HGNC: 3551
  
  General Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
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General

Gene:F9

ClinGen Coag Fac Def VCEP

inferred_gene_hgnc:3551

inferred_gene_source:Gene_Name

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ClingenBaseline

URL

pubmed.ncbi.nlm.nih.gov/8320491/
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov

Molecular characterization of factor IX gene mutations in 53 patients with haemophilia B in India

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Molecular characterization of factor IX gene mutations in 53 patients with haemophilia B in India
  
  PMID: 16270648
  
  Gene: F9
  
  HGNC: 3551
  
  General Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
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General

Gene:F9

ClinGen Coag Fac Def VCEP

inferred_gene_hgnc:3551

inferred_gene_source:Gene_Name

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ClingenBaseline

URL

pubmed.ncbi.nlm.nih.gov/16270648/
Local file Local file

Xanthommatin is Behind the Antioxidant Activity of the Skin of Dosidicus gigas

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Xanthommatin is Behind the Antioxidant Activity ofthe Skin ofDosidicus gigas
  
  PMID: 31547094
  
  Gene: F8
  
  NoEvidence: No patients or variants mentioned here in this article
  
  ClinGen Gene:F8 General NoEvidence inferred_gene_hgnc:3546 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
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NoEvidence

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inferred_gene_hgnc:3546

ClinGen Coag Fac Def VCEP

Gene:F8

inferred_gene_source:Gene_Name

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ClingenBaseline
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 23 Oct 2026
  
  in Baseline Annotations
  
  Variants in FIX propeptide associated with vitamin K antagonist hypersensitivity: functional analysis and additional data confirming the common founder mutations
  
  PMID: 29450643
  
  Gene: F9
  
  HGNC: 3551
  
  General Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
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General

Gene:F9

ClinGen Coag Fac Def VCEP

inferred_gene_hgnc:3551

inferred_gene_source:Gene_Name

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ClingenBaseline

URL

link.springer.com/article/10.1007/s00277-018-3264-2
pubs.acs.org pubs.acs.org

Enhanced Rates of C–H Bond Cleavage by a Hydrogen-Bonded Synthetic Heme High-Valent Iron(IV) Oxo Complex

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Enhanced Rates of C–H Bond Cleavage by a Hydrogen-Bonded Synthetic Heme High-Valent Iron(IV) Oxo Complex
  
  PMID: 31318198
  
  Gene: F8
  
  NoEvidence: This paper does not mention Hemophilia A or F8. No patients and no variants included.
  
  ClinGen General Gene:F8 NoEvidence inferred_gene_hgnc:3546 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
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NoEvidence

General

inferred_gene_hgnc:3546

ClinGen Coag Fac Def VCEP

Gene:F8

inferred_gene_source:Gene_Name

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ClingenBaseline

URL

pubs.acs.org/doi/10.1021/jacs.9b01253
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov

Characterization of genetic defects of hemophilia B of Chinese origin

1
1. ClingenBaseline 23 Oct 2026
 
 in Baseline Annotations
 
 genetic defects
 
 Case#: Lin_Patient 3 (assumed male, Chinese origin)
 
 DiseaseAssertion: Severe Hemophilia B
 
 FamilyInfo: N/A
 
 ParentalTesting: None
 
 CasePresentingHPOs: HP:0011858
 
 CaseHPOsFreeText: reduced factor IX activity (FIX:C: <1 ; FIX:Ag: 38)
 
 CaseNotHPOs: N/A
 
 CasePreviousTesting: None
 
 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:Full DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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InheritancePattern:X-Linked

DiseaseSeverity:Severe

ClinGen Coag Fac Def VCEP

FIXTesting:Full

CAID:CA414435539

Zygosity:NoZygosityAssertion

DiseaseEntity:FactorIXDeficiency

ParentalTest:Unknown

Mutation:Missense

Gene:F9

inferred_gene_source:CAID

inferred_gene_hgnc:3551

CaseInfo

Annotators

ClingenBaseline

URL

pubmed.ncbi.nlm.nih.gov/1796396/

ClingenBaseline

Annotations: 10,000

Joined: October 21, 2026

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