Hypothesis

244 Matching Annotations

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

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

25
1. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 S18
 
 Case#: S18, Iranian
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125, HP:0005261
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
 
 Gene: F8
 
 Variant: NA
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Intronic inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
2. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 S28
 
 Case#: S28, Iranian
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125, HP:0005261
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA, Testis bleeding
 
 CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
 
 Gene: F8
 
 Variant: NM_000132.3:c.del exon15
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Large UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
3. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 S10
 
 Case#: S10, Iranian
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%, Mucosal bleeding
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
 
 Gene: F8
 
 Variant: NM_000132.3:c.1931T>G
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414909677
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Missense CAID:CA414909677 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
4. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 S6
 
 Case#: S6, Iranian
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%, Mucosal bleeding, Inhibitor present
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
 
 Gene: F8
 
 Variant: 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
5. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 S3
 
 Case#: S3, 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: NM_000132.3:c.95delC
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Frameshift UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
6. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 S13
 
 Case#: S13, Iranian
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: Family history of HA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125, HP:0005261
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
 
 Gene: F8
 
 Variant: NA
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Intronic inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
7. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 S30
 
 Case#: S30, Iranian
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 5% < FVIII:C < 30%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
 
 Gene: F8
 
 Variant: NM_000132.3:c.2090T>C
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414909005
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Missense CAID:CA414909005 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
8. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 S17
 
 Case#: S17, Iranian
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%, Mucosal bleeding
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
 
 Gene: F8
 
 Variant: NM_000132.3:c.1063C>T
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255031
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Nonsense CAID:CA255031 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
9. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 S1
 
 Case#: S1, 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.209_212del
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255050
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Frameshift CAID:CA255050 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
10. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 S22
 
 Case#: S22, Iranian
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%, Mucosal bleeding
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
 
 Gene: F8
 
 Variant: NA
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Intronic Inhibitor:Absent inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
11. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 S9
 
 Case#: S9, 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.2945dupA
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255142
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Frameshift CAID:CA255142 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
12. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 S2
 
 Case#: S2, 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
13. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 S21
 
 Case#: S21, Iranian
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: Family history of HA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125, HP:0005261
 
 CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
 
 Gene: F8
 
 Variant: NM_000132.3:c.6213A>T
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414903164
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Missense CAID:CA414903164 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
14. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 S24
 
 Case#: S24, Iranian
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%, Mucosal bleeding, Inhibitor present
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
 
 Gene: F8
 
 Variant: NM_000132.3:c.5509A>T
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414908661
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Nonsense CAID:CA414908661 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
15. 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
16. 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
17. 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
18. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 S20
 
 Case#: S20, Iranian
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125, HP:0005261
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
 
 Gene: F8
 
 Variant: NM_000132.3:c.2013_2015del
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA873350278
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:InframeDel CAID:CA873350278 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
19. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 S29
 
 Case#: S29, Iranian
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 5% < FVIII:C < 30%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
 
 Gene: F8
 
 Variant: NM_000132.3:c.2110C>T
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA10568366
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Missense CAID:CA10568366 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
20. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 S26
 
 Case#: S26, Iranian
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%, Mucosal bleeding
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
 
 Gene: F8
 
 Variant: NM_000132.3:c.3943delA
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Frameshift UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
21. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 S23
 
 Case#: S23, Iranian
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125, HP:0005261
 
 CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
 
 Gene: F8
 
 Variant: NA
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Intronic inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
22. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 S5
 
 Case#: S5, Iranian
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%, Mucosal bleeding
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
 
 Gene: F8
 
 Variant: NM_000132.3:c.1010‐2A>G
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Splice UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
23. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 S15
 
 Case#: S15, Iranian
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: Family history of HA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125, HP:0005261
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
 
 Gene: F8
 
 Variant: NA
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Intronic inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
24. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 S12
 
 Case#: S12, Iranian
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: Family history of HA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125, HP:0005261
 
 CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
 
 Gene: F8
 
 Variant: NM_000132.3:c.del exons8_9
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Large ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
25. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 S19
 
 Case#: S19, Iranian
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%, Mucosal bleeding
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
 
 Gene: F8
 
 Variant: NA
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Intronic inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

Inhibitor:Present

DiseaseEntity:FactorVIIIDeficiency

Mutation:Nonsense

CAID:CA414903164

inferred_gene_source:hgnc_tag

Mutation:Frameshift

Gene:F8

CAID:CA873350278

Mutation:InframeDel

CAID:CA414909005

CAID:CA255142

ClinGen Coag Fac Def VCEP

Mutation:Splice

HGNC:3546

DiseaseSeverity:SevereHemophiliaA

CaseInfo

ToCheck

CAID:CA255050

CAID:CA255146

inferred_gene_hgnc:3546

CAID:CA414908661

Mutation:Large

FVIIItesting:Partial

ParentalTest:Unknown

Mutation:Intronic

UnregisteredVariant

CAID:CA10568366

AssayDiscrepancy:NotReported

Inhibitor:Absent

Mutation:Missense

CAID:CA255031

CAID:CA414909677

Annotators

ClingenBaseline

URL

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

33
1. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 c.3637dupA
 
 Case#: 18
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C <1% (Severe Phenotype), No inhibitors present
 
 CasePreviousTesting: Screened for IVS-22 and IVS-1, Possibility that sample was blinded for NGS and validated by comparing results with Sanger Sequencing
 
 Gene: F8
 
 Variant: NM_000132.3:c.3637dup (p.Ile1213AsnfsTer28)
 
 ClinVar: NA
 
 CAID: CA10568191
 
 gnomAD: MAF for p.Ile1213AsnfsTer28 in the Other population 0.0002480 https://gnomad.broadinstitute.org/variant/X-154158427-A-AT
 
 InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency FVIIItesting:Partial ParentalTest:Unknown CAID:CA10568191 Zygosity:NoZygosityAssertion Mutation:Frameshift CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
2. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 c.1372C>T
 
 Case#: 12
 
 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:c.1372C>T (p.Arg458Cys)
 
 ClinVar: NA
 
 CAID: CA414914682
 
 gnomAD: Not reported
 
 InheritancePattern:NoInheritanceAssertion CAID:CA414914682 Mutation:Missense FVIIItesting:Partial ParentalTest:Unknown DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
3. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 c.1336C>T
 
 Case#: 8, Female HA carrier
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C 80% (Severe 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.1336C>T (p.Arg446Ter)
 
 ClinVar: 10145 https://www.ncbi.nlm.nih.gov/clinvar/variation/10145/
 
 CAID: CA255038
 
 gnomAD: Not reported
 
 InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion CAID:CA255038 ParentalTest:Unknown ClinVarID:10145 FVIIItesting:Partial CaseInfo HGNC:3546 Mutation:Nonsense Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
4. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 c.2945dupA
 
 Case#: 17
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C <1% (Severe Phenotype), No inhibitors present
 
 CasePreviousTesting: Screened for IVS-22 and IVS-1, Possibility that sample was blinded for NGS and validated by comparing results with Sanger Sequencing
 
 Gene: F8
 
 Variant: NM_000132.3(F8):c.2945dup (p.Asn982LysfsTer9)
 
 ClinVar: 10249 https://www.ncbi.nlm.nih.gov/clinvar/variation/10249/
 
 CAID: CA255142
 
 gnomAD: Not reported
 
 ClinVarID:10249 CAID:CA255142 InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion FVIIItesting:Partial ParentalTest:Unknown Mutation:Frameshift HGNC:3546 CaseInfo Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
5. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 c.6623A>G
 
 Case#: 34
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C 23%, 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.6623A>G (p.Gln2208Arg)
 
 ClinVar: 368117 https://www.ncbi.nlm.nih.gov/clinvar/variation/368117/
 
 CAID: CA10567784
 
 gnomAD: MAF for Gln2208Arg in the European (non-Finnish) population 0.00004320 https://gnomad.broadinstitute.org/variant/X-154090093-T-C?dataset=gnomad_r2_1
 
 ClinVarID:368117 DiseaseEntity:FactorVIIIDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA10567784 ParentalTest:Unknown FVIIItesting:Partial InheritancePattern:NoInheritanceAssertion HGNC:3546 CaseInfo Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
6. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 c.575T>C
 
 Case#: 5
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C 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.575T>C (p.Ile192Thr)
 
 ClinVar: 618637 https://www.ncbi.nlm.nih.gov/clinvar/variation/618637/
 
 CAID: CA414919417
 
 gnomAD: Not reported
 
 InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency Mutation:Missense Zygosity:NoZygosityAssertion FVIIItesting:Partial ParentalTest:Unknown CAID:CA414919417 CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
7. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 c.1307A>C
 
 Case#: 10
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C 22% (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.1307A>C (p.Gln436Pro)
 
 ClinVar: NA
 
 CAID: CA414915176
 
 gnomAD: Not reported
 
 Zygosity:NoZygosityAssertion Mutation:Missense DiseaseEntity:FactorVIIIDeficiency FVIIItesting:Partial ParentalTest:Unknown CAID:CA414915176 InheritancePattern:NoInheritanceAssertion CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
8. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 c.5123G>A
 
 Case#: 20
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C 18%, 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.5123G>A (p.Arg1708His)
 
 ClinVar: 10266 https://www.ncbi.nlm.nih.gov/clinvar/variation/10266/
 
 CAID: CA255154
 
 gnomAD: MAF for Arg1708His in the South Asian population 0.00005507 https://gnomad.broadinstitute.org/variant/X-154156942-C-T?dataset=gnomad_r2_1
 
 DiseaseEntity:FactorVIIIDeficiency FVIIItesting:Partial ParentalTest:Unknown InheritancePattern:NoInheritanceAssertion CAID:CA255154 Mutation:Missense ClinVarID:10266 Zygosity:NoZygosityAssertion CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
9. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 c.6845C>G
 
 Case#: 36
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C 33/30%, 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.6845C>G (p.Ser2282Cys)
 
 ClinVar: NA
 
 CAID: CA414903435
 
 gnomAD: Not reported
 
 DiseaseEntity:FactorVIIIDeficiency FVIIItesting:Partial Mutation:Missense Zygosity:NoZygosityAssertion InheritancePattern:NoInheritanceAssertion CAID:CA414903435 ParentalTest:Unknown CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
10. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 c.396A>C
 
 Case#: 3
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C 18% (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.396A>C (p.Glu132Asp)
 
 ClinVar: 10171 https://www.ncbi.nlm.nih.gov/clinvar/variation/10171/
 
 CAID: CA255060
 
 gnomAD: MAF for Glu132Asp in Other population 0.0003762 https://gnomad.broadinstitute.org/variant/X-154221416-T-G?dataset=gnomad_r2_1
 
 InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA255060 FVIIItesting:Partial ParentalTest:Unknown ClinVarID:10171 CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
11. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 c.580G>A
 
 Case#: 44
 
 DiseaseAssertion: Hemophilia B
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FIX:C 23% (Mild Phenotype)
 
 CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing
 
 Gene: F9
 
 Variant: NM_001313913.1:c.580G>A (p.Asp194Asn)
 
 ClinVar: NA
 
 CAID: CA414441211
 
 gnomAD: Not reported
 
 InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion ParentalTest:Unknown FVIIItesting:Partial DiseaseEntity:FactorVIIIDeficiency Mutation:Missense CAID:CA414441211 CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
12. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 c.2043G>A
 
 Case#: 16
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C 31% (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.2043G>A (p.Met681Ile)
 
 ClinVar: NA
 
 CAID: CA414909257
 
 gnomAD: Not reported
 
 DiseaseEntity:FactorVIIIDeficiency InheritancePattern:NoInheritanceAssertion CAID:CA414909257 Mutation:Missense ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
13. 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
14. 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
15. 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
16. 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
17. 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
18. 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
19. 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
20. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 c.681G>T
 
 Case#: 6
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C <1% (Severe Phenotype), No inhibitors present
 
 CasePreviousTesting: Screened for IVS-22 and IVS-1, Possibility that sample was blinded for NGS and then validated by comparing results with Sanger Sequencing
 
 Gene: F8
 
 Variant: NM_000132.3:c.681G>T (p.Trp227Cys)
 
 ClinVar: NA
 
 CAID: CA414919155
 
 gnomAD: Not reported
 
 InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency Mutation:Missense Zygosity:NoZygosityAssertion FVIIItesting:Partial ParentalTest:Unknown CAID:CA414919155 CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
21. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 c.1288T>C
 
 Case1: 9
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C 17% (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.1288T>C (p.Tyr430His)
 
 ClinVar: NA
 
 CAID: CA337336221
 
 gnomAD: Not reported
 
 InheritancePattern:NoInheritanceAssertion Mutation:Missense DiseaseEntity:FactorVIIIDeficiency CAID:CA337336221 FVIIItesting:Partial ParentalTest:Unknown Zygosity:NoZygosityAssertion CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
22. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 c.6113A>G
 
 Case#: 28
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C 5/3% (Moderate 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.6113A>G (p.Asn2038Ser)
 
 ClinVar: 10305 https://www.ncbi.nlm.nih.gov/clinvar/variation/10305/
 
 CAID: CA255198
 
 gnomAD: Not reported
 
 DiseaseEntity:FactorVIIIDeficiency Mutation:Missense FVIIItesting:Partial ParentalTest:Unknown ClinVarID:10305 CAID:CA255198 Zygosity:NoZygosityAssertion InheritancePattern:NoInheritanceAssertion CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
23. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 IVS22
 
 Case#: 30
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C <1%, Severe Phenotype, Inhibitors present
 
 CasePreviousTesting: Screened for IVS-22 and IVS-1, possibility that sample was blinded for NGS and validated by comparing results with Sanger Sequencing
 
 Gene: F8
 
 Variant: F8, IVS22 INV
 
 ClinVar: 10150 https://www.ncbi.nlm.nih.gov/clinvar/variation/10150/#id_second
 
 gnomAD: Not reported
 
 ClinVarID:10150 InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency FVIIItesting:Partial ParentalTest:Unknown Zygosity:NoZygosityAssertion CaseInfo HGNC:3546 Mutation:Intronic Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
24. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 c.1648C>T
 
 Case#: 13
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C 25/21% (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.1648C>T (p.Arg550Cys)
 
 ClinVar: 10223 https://www.ncbi.nlm.nih.gov/clinvar/variation/10223/
 
 CAID: CA255113
 
 gnomAD: Not reported
 
 InheritancePattern:NoInheritanceAssertion Mutation:Missense CAID:CA255113 ClinVarID:10223 FVIIItesting:Partial 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
25. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 c.5999–740T>C
 
 Case#: 26
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C 33%, 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.5999-740T>C
 
 ClinVar: NA
 
 CAID: CA1139532039
 
 gnomAD: Not reported
 
 InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency Mutation:Missense ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CaseInfo HGNC:3546 CAID:CA1139532039 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
26. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 c.6046C>T
 
 Case#: 27
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C 4% (Moderate 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.6046C>T (p.Arg2016Trp)
 
 ClinVar: 10304 https://www.ncbi.nlm.nih.gov/clinvar/variation/10304/
 
 CAID: CA255197
 
 gnomAD: Not reported
 
 DiseaseEntity:FactorVIIIDeficiency Mutation:Missense ClinVarID:10304 CAID:CA255197 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
27. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 c.6750A>C
 
 Case#: 35
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C 24/32/19/17/35%, 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.6750A>C (p.Gln2250His)
 
 ClinVar: NA
 
 CAID: CA414904711
 
 gnomAD: Not reported
 
 CAID:CA414904711 InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion FVIIItesting:Partial ParentalTest:Unknown DiseaseEntity:FactorVIIIDeficiency Mutation:Missense CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
28. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 c.5936G>A
 
 Case#: 25
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C 21/17%, 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.5936G>A (p.Gly1979Glu)
 
 ClinVar: NA
 
 CAID: CA414905839
 
 gnomAD: Not reported
 
 DiseaseEntity:FactorVIIIDeficiency Mutation:Missense CAID:CA414905839 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
29. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 c.6506G>A
 
 Case#: 31
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C 17/25%, Mild Phenotype, 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.6506G>A (p.Arg2169His)
 
 ClinVar: 10315 https://www.ncbi.nlm.nih.gov/clinvar/variation/10315/
 
 CAID: CA255208
 
 gnomAD: Not reported
 
 DiseaseEntity:FactorVIIIDeficiency Mutation:Missense CAID:CA255208 FVIIItesting:Partial InheritancePattern:NoInheritanceAssertion ParentalTest:Unknown Zygosity:NoZygosityAssertion ClinVarID:10315 CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
30. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 c.1010–842G>A
 
 Case#: 7
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C 34/30/35% (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.1010-842G>A
 
 ClinVar: NA
 
 CAID: CA337336857
 
 gnomAD: MAF in Ashkenazi Jewish population 0.01105 https://gnomad.broadinstitute.org/variant/X-154195804-C-T
 
 InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion FVIIItesting:Partial ParentalTest:Unknown CaseInfo HGNC:3546 Mutation:Intronic Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
31. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 c.5954G>A
 
 Case#: 24
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C 23/18%, 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.5954G>A (p.Arg1985Gln)
 
 ClinVar: 618098 https://www.ncbi.nlm.nih.gov/clinvar/variation/618098/
 
 CAID: CA414905715
 
 gnomAD: MAF for Arg1985Gln in the European (non-Finnish) population 0.00001224 https://gnomad.broadinstitute.org/variant/X-154132225-C-T?dataset=gnomad_r2_1
 
 InheritancePattern:NoInheritanceAssertion Mutation:Missense CAID:CA414905715 DiseaseEntity:FactorVIIIDeficiency FVIIItesting:Partial ParentalTest:Unknown Zygosity:NoZygosityAssertion ClinVarID:618098 HGNC:3546 CaseInfo Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
32. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 c.1336C>T
 
 Case#: 11
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C <1% (Severe Phenotype), No inhibitors present
 
 CasePreviousTesting: Screened for IVS-22 and IVS-1, Possibility that sample was blinded for NGS and validated by comparing results with Sanger Sequencing
 
 Gene: F8
 
 Variant: NM_000132.3(F8):c.1336C>T (p.Arg446Ter)
 
 ClinVar: 10145 https://www.ncbi.nlm.nih.gov/clinvar/variation/10145/
 
 CAID: CA255038
 
 gnomAD: Not reported
 
 InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion Mutation:Nonsense CAID:CA255038 FVIIItesting:Partial ParentalTest:Unknown DiseaseEntity:FactorVIIIDeficiency ClinVarID:10145 CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
33. ClingenBaseline 21 Oct 2026
 
 in Baseline Annotations
 
 c.5953C>T
 
 Case#: 23
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVIII:C <1% (Severe Phenotype), No inhibitors present
 
 CasePreviousTesting: Screened for IVS-22 and IVS-1, Possibility that sample was blinded for NGS and validated by comparing results with Sanger Sequencing
 
 Gene: F8
 
 Variant: NM_000132.3(F8):c.5953C>T (p.Arg1985Ter)
 
 ClinVar: 10300 https://www.ncbi.nlm.nih.gov/clinvar/variation/10300/
 
 CAID: CA255191
 
 gnomAD: Not reported
 
 InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency FVIIItesting:Partial Mutation:Nonsense ClinVarID:10300 CAID:CA255191 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

DiseaseEntity:FactorVIIIDeficiency

Mutation:Nonsense

CAID:CA414915176

ClinVarID:10319

inferred_gene_source:hgnc_tag

Mutation:Frameshift

CAID:CA414919417

ClinVarID:10171

Gene:F8

CAID:CA10568191

CAID:CA255142

ClinGen Coag Fac Def VCEP

ClinVarID:368117

HGNC:3551

ClinVarID:10315

CAID:CA414909257

ClinVarID:10236

CAID:CA255115

CAID:CA337336221

ClinVarID:10266

CAID:CA255129

ClinVarID:10150

HGNC:3546

CAID:CA10567784

CaseInfo

CAID:CA255154

ClinVarID:10145

CAID:CA414903435

ClinVarID:10223

inferred_gene_hgnc:3551

CAID:CA255197

ClinVarID:811219

CAID:CA255198

ClinVarID:10300

inferred_gene_hgnc:3546

CAID:CA255191

Zygosity:NoZygosityAssertion

FVIIItesting:Partial

InheritancePattern:NoInheritanceAssertion

ClinVarID:10304

ParentalTest:Unknown

Mutation:Intronic

CAID:CA255208

CAID:CA414905715

ClinVarID:10305

Gene:F9

CAID:CA414919155

CAID:CA414914682

CAID:CA414905992

CAID:CA10568603

ClinVarID:618098

CAID:CA1139532039

CAID:CA414441211

CAID:CA255060

CAID:CA255212

CAID:CA255038

CAID:CA414905839

CAID:CA414904711

CAID:CA414896685

CAID:CA414904332

Mutation:Missense

ClinVarID:10225

CAID:CA255113

ClinVarID:10249

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

3
1. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 UQU-HA39
 
 Case#: UQU-HA39, Male, 1-months-old, Saudi Arabia
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0001892 (Abnormal bleeding)
 
 CaseHPOFreeText: Moderate, FVIII: 5-40% (moderate HA) based on text
 
 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.2138del (p.Asn713ThrfsTer9)
 
 ClinVar: NA
 
 CAID: CA1139532050
 
 gnomAD: Not reported
 
 Mutation:Frameshift InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion ParentalTest:Unknown DiseaseEntity:FactorVIIIDeficiency FVIIItesting:Partial CaseInfo HGNC:3546 Gene:F8 CAID:CA1139532050 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
2. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 UQU-HA38
 
 Case#: UQU-HA36, Male, 1-months-old, Saudi Arabia
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0001892 (Abnormal bleeding)
 
 CaseHPOFreeText: Mild, FVIII: 1 to <5% (moderate HA) based on text
 
 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.99G>T (p.Trp33Cys)
 
 ClinVar: NA
 
 CAID: CA414920529
 
 gnomAD: Not reported
 
 CAID:CA414920529 Mutation:Missense DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown InheritancePattern:NoInheritanceAssertion FVIIItesting:Partial CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
3. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 UQU-HA37
 
 Case#: UQU-HA37, Male, 1-months-old, Saudi Arabia
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: PTT 49.6, FVIII: 1 to <5% (Moderate), Disabled left knee
 
 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.6430-1G>A
 
 ClinVar: NA
 
 CAID: CA414908097
 
 gnomAD: Not reported
 
 Mutation:Splice InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown CAID:CA414908097 FVIIItesting:Partial CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

DiseaseEntity:FactorVIIIDeficiency

inferred_gene_hgnc:3546

inferred_gene_source:hgnc_tag

Zygosity:NoZygosityAssertion

InheritancePattern:NoInheritanceAssertion

Mutation:Frameshift

FVIIItesting:Partial

ParentalTest:Unknown

Gene:F8

ClinGen Coag Fac Def VCEP

Mutation:Splice

HGNC:3546

CaseInfo

CAID:CA414920529

CAID:CA1139532050

CAID:CA414908097

Mutation:Missense

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC5330775/
www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu

Untitled document

110
1. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 091–2011
 
 Case#: 091-2011
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.5393C>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414909064
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414909064 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
2. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 084–2005
 
 Case#: 084-2005
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 5% < FVIII:C < 40%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.1910A>G
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414909849
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414909849 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
3. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 020–2071
 
 Case#: 020-2071
 
 DiseaseAssertion: Hemophilia A, moderate
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 1% < FVIII:C < 5%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.1492G>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255109
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255109 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
4. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 066–2002
 
 Case#: 066-2002
 
 DiseaseAssertion: Hemophilia A, moderate
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 1% < FVIII:C < 5%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.5399G>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255162
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255162 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
5. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 071–2025
 
 Case#: 071-2025
 
 DiseaseAssertion: Hemophilia A, moderate
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 1% < FVIII:C < 5%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.2167G>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255138
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255138 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
6. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 020–2070
 
 Case#: 020-2070
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 5% < FVIII:C < 40%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.558C>G
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414919454
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414919454 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
7. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 003–2002
 
 Case#: 003-2002
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.3637delA
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255146
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255146 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
8. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 035–2020
 
 Case#: 035-2020
 
 DiseaseAssertion: Hemophilia A, moderate
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 1% < FVIII:C < 5%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.5275G>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414911087
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414911087 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
9. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 020–2021
 
 Case#: 020-2021
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.1396T>C
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial UnregisteredVariant SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
10. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 071–2037
 
 Case#: 071-2037
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant:
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID:
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
11. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 022–2003
 
 Case#: 022-2003
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.278C>T
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414920106
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414920106 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
12. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 003–2025
 
 Case#: 003-2025
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant:
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID:
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
13. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 035–2016
 
 Case#: 035-2016
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.3637delA
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255146
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
14. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 084–2003
 
 Case#: 084-2003
 
 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.209_212delTTGT
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255050
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA255050 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
15. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 020–2065
 
 Case#: 020-2065
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 5% < FVIII:C < 40%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.1834C>T
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255129
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255129 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
16. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 004–2019
 
 Case#: 004-2019
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.3637delA
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255146
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255146 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
17. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 060–2006
 
 Case#: 060-2006
 
 DiseaseAssertion: Hemophilia A, moderate
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 1% < FVIII:C < 5%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.1618C>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414911950
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414911950 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
18. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 001–2026
 
 Case#: 001-2026
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.986G>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255089
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255089 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
19. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 047–2002
 
 Case#: 047-2002
 
 DiseaseAssertion: Hemophilia A, moderate
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 1% < FVIII:C < 5%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.6011C>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414905140
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414905140 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
20. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 001–2046
 
 Case#: 001-2046
 
 DiseaseAssertion: Hemophilia A, moderate
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 1% < FVIII:C < 5%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.822G>T
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA337337669
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA337337669 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
21. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 004–2003
 
 Case#: 004-2003
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.5589delG
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial UnregisteredVariant SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
22. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 004–2015
 
 Case#: 004-2015
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.2152_2153delAA
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData Inhibitor:NotReported UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
23. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 084–2004
 
 Case#: 084-2004
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 5% < FVIII:C < 40%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.1910A>G
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414909849
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414909849 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
24. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 071–2024
 
 Case#: 071-2024
 
 DiseaseAssertion: Hemophilia A, moderate
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 1% < FVIII:C < 5%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.2167G>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255138
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255138 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
25. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 066–2001
 
 Case#: 066-2001
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 5% < FVIII:C < 40%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.6098T>C
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414904604
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414904604 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
26. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 072–2009
 
 Case#: 072-2009
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.1332A>T
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414914974
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414914974 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
27. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 005–2001
 
 Case#: 005-2001
 
 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.3277delAT
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent 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
28. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 003–2014
 
 Case#: 003-2014
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant:
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID:
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
29. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 015–2002
 
 Case#: 015-2002
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.6876_6877delCT
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA873368227
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA873368227 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
30. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 071–2036
 
 Case#: 071-2036
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant:
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID:
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
31. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 071–2001
 
 Case#: 071-2001
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.901C>T
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414917990
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414917990 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
32. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 035–2013
 
 Case#: 035-2013
 
 DiseaseAssertion: Hemophilia A, moderate
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 1% < FVIII:C < 5%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.5275G>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414911087
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414911087 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
33. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 091–2010
 
 Case#: 091-2010
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 5% < FVIII:C < 40%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.1475A>G
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA337334224
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA337334224 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
34. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 071–2023
 
 Case#: 071-2023
 
 DiseaseAssertion: Hemophilia A, moderate
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 1% < FVIII:C < 5%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.2167G>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255138
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255138 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
35. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 047–2001
 
 Case#: 047-2001
 
 DiseaseAssertion: Hemophilia A, moderate
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 1% < FVIII:C < 5%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.3637delA
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255146
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255146 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
36. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 084–2001
 
 Case#: 084-2001
 
 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.100delG
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent 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
37. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 091–2005
 
 Case#: 091-2005
 
 DiseaseAssertion: Hemophilia A, moderate
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 1% < FVIII:C < 5%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.5393C>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414909064
 
 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:CA414909064 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
38. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 020–2054
 
 Case#: 020-2054
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 5% < FVIII:C < 40%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.1899G>T
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414910251
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414910251 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
39. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 001–2050
 
 Case#: 001-2050
 
 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.4011insA
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent 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
40. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 060–2004
 
 Case#: 060-2004
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.272T>C
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414920117
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414920117 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
41. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 004–2012
 
 Case#: 004-2012
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.3637delA
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255146
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255146 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
42. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 020–2063
 
 Case#: 020-2063
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 5% < FVIII:C < 40%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.558C>G
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414919454
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414919454 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
43. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 072–2007
 
 Case#: 072-2007
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.5686_5687insA
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
44. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 071–2035
 
 Case#: 071-2035
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant:
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID:
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
45. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 020–2020
 
 Case#: 020-2020
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.3637delA
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255146
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
46. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 001–2025
 
 Case#: 001-2025
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.986G>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255089
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255089 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
47. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 020–2038
 
 Case#: 020-2038
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 5% < FVIII:C < 40%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.1834C>T
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255129
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255129 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
48. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 015–2011
 
 Case#: 015-2011
 
 DiseaseAssertion: Hemophilia A, moderate
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 1% < FVIII:C < 5%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.1241A>G
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414915839
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414915839 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
49. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 086–2006
 
 Case#: 086-2006
 
 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.1537G>C
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414912560
 
 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:CA414912560 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
50. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 020–2013
 
 Case#: 020-2013
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.5368_5370delATC
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial UnregisteredVariant SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
51. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 001–2041
 
 Case#: 001-2041
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 5% < FVIII:C < 40%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.2167G>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255138
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255138 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
52. 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
53. 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
54. 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
55. 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
56. 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
57. 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
58. 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
59. 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
60. 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
61. 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
62. 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
63. 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
64. 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
65. 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
66. 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
67. 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
68. 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
69. 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
70. 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
71. 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
72. 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
73. 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
74. 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
75. 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
76. 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
77. 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
78. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 071–2003
 
 Case#: 071-2003
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.4825dupA
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255152
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA255152 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
79. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 001–1026
 
 Case#: 001-1026,...
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NA
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Intronic FVIIItesting:Partial InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
80. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 080–2002
 
 Case#: 080-2002
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 5% < FVIII:C < 40%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.1649G>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255115
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255115 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
81. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 038–2002
 
 Case#: 038-2002
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.5687_5690delCT
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial UnregisteredVariant SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
82. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 016–2001
 
 Case#: 016-2001
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.901C>T
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414917990
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414917990 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
83. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 003–2005
 
 Case#: 003-2005
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.5275delG
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial UnregisteredVariant SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
84. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 071–2007
 
 Case#: 071-2007
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.1208A>C
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414916134
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414916134 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
85. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 060–2009
 
 Case#: 060-2009
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 5% < FVIII:C < 40%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.1834C>T
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255129
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255129 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
86. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 016–2003
 
 Case#: 016-2003
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 5% < FVIII:C < 40%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.2129G>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414904142
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414904142 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
87. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 004–2017
 
 Case#: 004-2017
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant:
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID:
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
88. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 091–2004
 
 Case#: 091-2004
 
 DiseaseAssertion: Hemophilia A, moderate
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 1% < FVIII:C < 5%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.5281T>C
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414911024
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414911024 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
89. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 038–2025
 
 Case#: 038-2025
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.514T>G
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414919550
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414919550 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
90. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 016–2005
 
 Case#: 016-2005
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.3531_3533delA
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
91. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 004–2008
 
 Case#: 004-2008
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.4379dupA
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA645292749
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData CAID:CA645292749 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
92. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 035–2021
 
 Case#: 035-2021
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 5% < FVIII:C < 40%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.5954G>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414905715
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414905715 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
93. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 038–2011
 
 Case#: 038-2011
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.5252A>G
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414911251
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414911251 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
94. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 020–2057
 
 Case#: 020-2057
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant:
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID:
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
95. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 035–2019
 
 Case#: 035-2019
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 5% < FVIII:C < 40%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.923C>T
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255082
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255082 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
96. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 035–2001
 
 Case#: 035-2001
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.1963_1964insT
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
97. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 071–2027
 
 Case#: 071-2027
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.4184_4186delGGAinsCCTC
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:InframeDelins InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial UnregisteredVariant SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
98. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 015–2006
 
 Case#: 015-2006
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.343G>T
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414919965
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414919965 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
99. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 060–2001
 
 Case#: 060-2001
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant:
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID:
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
100. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 066–2003
 
 Case#: 066-2003
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 5% < FVIII:C < 40%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.1649G>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255115
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255115 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
101. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 002–2002
 
 Case#: 002-2002
 
 DiseaseAssertion: Hemophilia A, moderate
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 1% < FVIII:C < 5%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.2092T>C
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414908999
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414908999 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
102. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 038–2023
 
 Case#: 038-2023
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.322_332þ8delGCTTCTGAGGGtgagtaaa
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: No
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large FVIIItesting:Partial PreviousTesting:None ParentalTest:Unknown SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
103. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 002–2006
 
 Case#: 002-2006
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.4379delA
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255151
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Large InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255151 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
104. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 001–2040
 
 Case#: 001-2040
 
 DiseaseAssertion: Hemophilia A, moderate
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 1% < FVIII:C < 5%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.5630G>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414908131
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414908131 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
105. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 003–2001
 
 Case#: 003-2001
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.493C>T
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255065
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255065 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
106. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 038–2012
 
 Case#: 038-2012
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 5% < FVIII:C < 40%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.1834C>T
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255129
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255129 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
107. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 002–2010
 
 Case#: 002-2010
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.901C>T
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414917990
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414917990 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
108. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 035–2005
 
 Case#: 035-2005
 
 DiseaseAssertion: Hemophilia A, moderate
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 1% < FVIII:C < 5%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.1175C>T
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255095
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255095 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
109. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 068–2003
 
 Case#: 068-2003
 
 DiseaseAssertion: Hemophilia A, mild
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: 5% < FVIII:C < 40%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.5275G>A
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA414911087
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA414911087 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
110. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 004–2013
 
 Case#: 004-2013
 
 DiseaseAssertion: Hemophilia A, severe
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0003125
 
 CaseHPOFreeText: FVIII:C < 1%
 
 CaseNotHPOs: NA
 
 CaseNotHPOFreeText: NA
 
 CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
 
 Gene: F8
 
 Variant: NM_000132.3:c.6046C>T
 
 LegacyVariant:
 
 ClinVar: No
 
 CAID: CA255197
 
 gnomAD:
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense InheritancePattern:NoInheritanceAssertion PreviousTesting:None ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CAID:CA255197 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

CAID:CA255095

DiseaseEntity:FactorVIIIDeficiency

CAID:CA414920106

inferred_gene_source:hgnc_tag

CAID:CA255151

CAID:CA414909064

CAID:CA414912560

CAID:CA414919454

CAID:CA255065

ClinGen Coag Fac Def VCEP

CAID:CA414911087

CAID:CA414904604

CAID:CA414913690

CAID:CA255129

HGNC:3546

Inhibitor:NotReported

PreviousTesting:None

DiseaseSeverity:MildHemophiliaA

DiseaseSeverity:ModerateHemophiliaA

CAID:CA255197

CAID:CA414910251

CAID:CA255162

CAID:CA414920251

Zygosity:NoZygosityAssertion

Mutation:Large

ParentalTest:Unknown

CAID:CA414911251

CAID:CA255138

Mutation:Intronic

CAID:CA414909849

UnregisteredVariant

Mutation:InframeDelins

CAID:CA414911024

CAID:CA414908999

AssayDiscrepancy:NotReported

CAID:CA414920432

CAID:CA414905140

CAID:CA414904142

CAID:CA255152

Inhibitor:Absent

Mutation:Missense

CAID:CA414904092

CAID:CA337337669

CAID:CA337334224

Inhibitor:Present

CAID:CA414919724

CAID:CA414919965

Gene:F8

CAID:CA873368227

CAID:CA414911721

CAID:CA255089

CAID:CA255115

CAID:CA414919550

CAID:CA414914974

DiseaseSeverity:SevereHemophiliaA

CaseInfo

CAID:CA255109

SupplementalData

CAID:CA414916134

CAID:CA414910786

CAID:CA255050

CAID:CA255146

CAID:CA414920117

CAID:CA414915839

inferred_gene_hgnc:3546

CAID:CA645292749

InheritancePattern:NoInheritanceAssertion

FVIIItesting:Partial

CAID:CA414905715

CAID:CA414911240

CAID:CA414911950

CAID:CA414908131

CAID:CA414917829

DiseaseEntity:FactorIXDeficiency

CAID:CA414917990

CAID:CA255082

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
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

25
1. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 Table 2
 
 Case#: Cz35, 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 FVIIItesting:Partial ParentalTest:Unknown CAID:CA873354114 ClinVarID:811357 Zygosity:NoZygosityAssertion Mutation:Intronic CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
2. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 Table 2
 
 Case#: Cz25, 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 DiseaseEntity:FactorVIIIDeficiency Mutation:Intronic Zygosity:NoZygosityAssertion CAID:CA873354114 ClinVarID:811357 FVIIItesting:Partial ParentalTest:Unknown CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
3. ClingenBaseline 25 Oct 2026
 
 in Baseline Annotations
 
 Table 1
 
 Case#: Cz32, Italy (Calabria)
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: Inherited
 
 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: F8, IVS22 INV
 
 ClinVar: 10150 https://www.ncbi.nlm.nih.gov/clinvar/variation/10150/
 
 CAID: NA
 
 gnomAD: Not reported
 
 CaseInfo HGNC:3546 InheritancePattern:Xlinked DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown FVIIItesting:Partial Mutation:Intronic ClinVarID:10150 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
4. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 Table 1
 
 Case#: Cz22, Italy (Calabria)
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: Inherited
 
 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.1336C>T (p.Arg446Ter)
 
 ClinVar: 10145 https://www.ncbi.nlm.nih.gov/clinvar/variation/10145/
 
 CAID: CA255038
 
 gnomAD: Not reported
 
 CaseInfo HGNC:3546 InheritancePattern:Xlinked DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion FVIIItesting:Partial ParentalTest:Unknown ClinVarID:10145 CAID:CA255038 Gene:F8 Mutation:Nonsense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
5. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 Table 2
 
 Case#: Cz19, Italy (Calabria)
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: Inherited
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVII:C 3%
 
 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 ClinVarID:811357 DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown Mutation:Intronic FVIIItesting:Partial InheritancePattern:Xlinked HGNC:3546 CaseInfo Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
6. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 Table 2
 
 Case#: Cz2, 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 ParentalTest:Unknown DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion CAID:CA873354114 ClinVarID:811357 FVIIItesting:Partial Mutation:Intronic CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
7. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 Table 2
 
 Case#: Cz34, 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 Mutation:Intronic ParentalTest:Unknown FVIIItesting:Partial Zygosity:NoZygosityAssertion CAID:CA873354114 ClinVarID:811357 CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
8. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 Table 1
 
 Case#: Cz21, Italy (Calabria)
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: Inherited
 
 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: F8, IVS22 INV
 
 ClinVar: 10150 https://www.ncbi.nlm.nih.gov/clinvar/variation/10150/
 
 CAID: NA
 
 gnomAD: Not reported
 
 CaseInfo HGNC:3546 InheritancePattern:Xlinked DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ClinVarID:10150 FVIIItesting:Partial ParentalTest:Unknown Mutation:Intronic Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
9. ClingenBaseline 24 Oct 2026
 
 in Baseline Annotations
 
 Table 1
 
 Case#: Cz14, Italy (Calabria)
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: Inherited
 
 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.5953C>T (p.Arg1985Ter)
 
 ClinVar: 10300 https://www.ncbi.nlm.nih.gov/clinvar/variation/10300/
 
 CAID: CA255191
 
 gnomAD: Not reported
 
 InheritancePattern:Xlinked CaseInfo HGNC:3546 DiseaseEntity:FactorIXDeficiency ParentalTest:Unknown FVIIItesting:Partial Zygosity:NoZygosityAssertion ClinVarID:10300 CAID:CA255191 Gene:F8 Mutation:Nonsense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
10. 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
11. 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
12. 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
13. 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
14. 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
15. 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
16. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 Table 2
 
 Case#: Cz24, 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 DiseaseEntity:FactorVIIIDeficiency Mutation:Intronic CAID:CA873354114 FVIIItesting:Partial ParentalTest:Unknown Zygosity:NoZygosityAssertion ClinVarID:811357 CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
17. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 Table 1
 
 Case#: Cz29, 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: F8, IVS22 INV
 
 ClinVar: 10150 https://www.ncbi.nlm.nih.gov/clinvar/variation/10150/
 
 CAID: NA
 
 gnomAD: Not reported
 
 CaseInfo HGNC:3546 InheritancePattern:DeNovoAssertion DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion FVIIItesting:Partial ParentalTest:Unknown ClinVarID:10150 Mutation:Intronic Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
18. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 Table 2
 
 Case#: Cz1, 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 Zygosity:NoZygosityAssertion ParentalTest:Unknown ClinVarID:811357 CAID:CA873354114 FVIIItesting:Partial Mutation:Intronic CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
19. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 Table 2
 
 Case#: Cz33, Italy (Calabria)
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: Inherited
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVII:C 8%
 
 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 Mutation:Intronic CAID:CA873354114 ClinVarID:811357 Zygosity:NoZygosityAssertion FVIIItesting:Partial ParentalTest:Unknown CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
20. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 Table 1
 
 Case#: Cz12, 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.5953C>T (p.Arg1985Ter)
 
 ClinVar: 10300 https://www.ncbi.nlm.nih.gov/clinvar/variation/10300/
 
 CAID: CA255191
 
 gnomAD: Not reported
 
 CaseInfo InheritancePattern:DeNovoAssertion HGNC:3546 CAID:CA255191 ClinVarID:10300 DiseaseEntity:FactorVIIIDeficiency FVIIItesting:Partial ParentalTest:Unknown Zygosity:NoZygosityAssertion Gene:F8 Mutation:Nonsense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
21. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 Table 1
 
 Case#: Cz31, Italy (Calabria)
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: Inherited
 
 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:c.1324T>C (p.Tyr442His)
 
 ClinVar: NA
 
 CAID: CA414915029
 
 gnomAD: Not reported
 
 InheritancePattern:Xlinked DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion FVIIItesting:Partial ParentalTest:Unknown CAID:CA414915029 CaseInfo HGNC:3546 Gene:F8 Mutation:Missense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
22. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 Table 2
 
 Case#: Cz11, 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
23. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 Table 2
 
 Case#: Cz26, Italy (Calabria)
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: Inherited
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeText: FVII:C 1.5%
 
 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
 
 InheritancePattern:DeNovoAssertion DiseaseEntity:FactorVIIIDeficiency Mutation:Intronic Zygosity:NoZygosityAssertion ParentalTest:Unknown FVIIItesting:Partial CAID:CA873354114 ClinVarID:811357 CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
24. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 Table 1
 
 Case#: Cz37, Italy (Calabria)
 
 DiseaseAssertion: Hemophilia A
 
 FamilyInfo: Inherited
 
 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:c.4379dup (p.Asn1460LysfsTer2)
 
 ClinVar: NA
 
 CAID: CA645292749
 
 gnomAD: MAF for p.Asn1460LysfsTer2 in the European (non-Finnish) population 0.00001245 https://gnomad.broadinstitute.org/variant/X-154157685-A-AT
 
 CaseInfo HGNC:3546 InheritancePattern:Xlinked ParentalTest:Unknown FVIIItesting:Partial DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion Gene:F8 CAID:CA645292749 Mutation:Frameshift inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
25. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 Table 2
 
 Case#: Cz23, 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 DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown FVIIItesting:Partial 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
Visit annotations in context

Tags

DiseaseEntity:FactorVIIIDeficiency

Mutation:Nonsense

CAID:CA414891965

inferred_gene_source:hgnc_tag

Mutation:Frameshift

Gene:F8

ClinGen Coag Fac Def VCEP

CAID:CA414915029

ClinVarID:10150

HGNC:3546

ClinVarID:10267

CaseInfo

ClinVarID:10145

InheritancePattern:DeNovoAssertion

CAID:CA255191

ClinVarID:10300

inferred_gene_hgnc:3546

CAID:CA255155

CAID:CA645292749

Zygosity:NoZygosityAssertion

FVIIItesting:Partial

ParentalTest:Unknown

Mutation:Intronic

InheritancePattern:Xlinked

CAID:CA873354114

CAID:CA255038

ClinVarID:811357

DiseaseEntity:FactorIXDeficiency

Mutation:Missense

Annotators

ClingenBaseline

URL

oce-ovid-com.libproxy.lib.unc.edu/article/00001721-200804000-00003/HTML
onlinelibrary.wiley.com onlinelibrary.wiley.com

hae14141-sup-0001-tables1.pdf

1
1. 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
Visit annotations in context

Tags

DiseaseEntity:FactorVIIIDeficiency

Mutation:Nonsense

inferred_gene_hgnc:3546

Zygosity:Hemizygous

inferred_gene_source:hgnc_tag

FVIIItesting:Partial

InheritancePattern:NoInheritanceAssertion

ParentalTest:Unknown

Gene:F8

ClinGen Coag Fac Def VCEP

CAID:CA414920668

ParentalConfirmation:Maternity

AssayDiscrepancy:NotReported

HGNC:3546

DiseaseSeverity:SevereHemophiliaA

CaseInfo

Inhibitor:Absent

SupplementalData

PreviousTesting:None

Annotators

ClingenBaseline

URL

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

blt-16-392.pdf

2
1. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 37-year old woman
 
 Case1: Female patient, 37-year-old, At age 25(pregnant) an F8 mutation was identified, Family History of Severe HA
 
 DiseaseAssertion: Mild hemophilia A due to a family mutation and de novo mutation
 
 FamilyInfo: Family also has the large deletion of exon 1 to 22 of the F8 gene, Son (age 10) has mild Hemophilia A
 
 ParentalTesting: Father tested negative for any F8 mutations, Mother is an asymptomatic carrier of the familial large deletion
 
 CasePresentingHPOs: HP:0000978 (Bruising Susceptibility), HP:0000132 (Menorrhagia)
 
 CaseHPOFreeText: FVIII:C 7%, compounded heterozygous for the large gene deletion and c.1569G>T mild mutation
 
 CasePreviousTesting: Molecular analysis, Sequenced the whole coding region of the F8 gene
 
 Gene: F8
 
 Variant: 1. F8, EX1-22DEL 2. NM_000132.3:c.1569G>T (p.Leu523=)
 
 ClinVar: 1. 10122 https://www.ncbi.nlm.nih.gov/clinvar/variation/10122/
 
 439678 https://www.ncbi.nlm.nih.gov/clinvar/variation/439678/
 
 gnomAD: 1. Not reported (F8, EX1-22DEL)
 
 MAF for Leu523= in Latino population 0.00007293 https://gnomad.broadinstitute.org/variant/X-154185415-C-A?dataset=gnomad_r2_1
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency InheritancePattern:Xlinked InheritancePattern:DeNovoAssertion Mutation:Large Zygosity:CompoundHeterozygous ClinVarID:10122 ClinVarID:439678 FVIIItesting:Partial ParentalTest:Both ParentalConfirmation:Paternity Mutation:Synonymous inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
2. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 a woman diagnosed as a HA carrier
 
 Case2: Female patient, blood group O
 
 DiseaseAssertion: Severe Hemophilia A from de novo mutation
 
 FamilyInfo: Family history of severe Hemophilia A, Son diagnosed with severe HA, Sibling has intron 22 inversion on F8 gene
 
 ParentalTesting: NA
 
 CasePresentingHPOs: NA
 
 CaseHPOFreeRext: aPTT ratio 1.16 (within normal range ratio), FVIII:C 48% (low-normal)
 
 CasePreviousTesting: Molecular analysis that excluded intron 22 inversion (HA carrier), tested for intron 22 inversion (confirmed negative), tested for intron 1 inversion (found negative), sequenced the whole coding region of the F8 gene(c.1753-1G>A mutation found)
 
 Gene: F8
 
 Variant: NM_000132.3:c.1753-1G>A
 
 ClinVar: NA
 
 CAID: CA414911340
 
 gnomAD: Not reported
 
 CaseInfo Gene:F8 HGNC:3546 InheritancePattern:DeNovoAssertion DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion CAID:CA414911340 FVIIItesting:Partial ParentalTest:Unknown Mutation:Splice inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

ClinVarID:10122

DiseaseEntity:FactorVIIIDeficiency

ClinVarID:439678

inferred_gene_hgnc:3546

inferred_gene_source:hgnc_tag

Mutation:Large

FVIIItesting:Partial

Mutation:Synonymous

Zygosity:NoZygosityAssertion

ParentalTest:Unknown

ParentalTest:Both

Gene:F8

ClinGen Coag Fac Def VCEP

ParentalConfirmation:Paternity

CAID:CA414911340

Mutation:Splice

InheritancePattern:Xlinked

HGNC:3546

CaseInfo

InheritancePattern:DeNovoAssertion

Zygosity:CompoundHeterozygous

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC6034774/
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

ircmj-16-6727.pdf

1
1. ClingenBaseline 22 Oct 2026
 
 in Baseline Annotations
 
 16-year-old boy
 
 Case1: Male patient, 16-year-old, Tabriz Iran
 
 DiseaseAssertion: Moderate Hemophilia A
 
 FamilyInfo: NA
 
 ParentalTesting: NA
 
 CasePresentingHPOs: HP:0005261 (Joint hemorrhage), HP:0030137 (Prolonged bleeding following circumcision)
 
 CasePreviousTesting: PCR-SSCP and PCR-CSGE was performed for all 26 exons with exon-intron boundaries of F8. Abnormal PCR product were directly sequenced.
 
 Gene: F8
 
 Variant: NM_000132.3(F8):c.4925A>G (p.Glu1642Gly)
 
 ClinVar: NA
 
 CAID: CA10568060
 
 gnomAD: MAF for Glu1642Gly in the East Asian population 0.0001346 https://gnomad.broadinstitute.org/variant/X-154157140-T-C
 
 CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA10568060 ParentalTest:Unknown InheritancePattern:NoInheritanceAssertion FVIIItesting:Partial inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
Visit annotations in context

Tags

DiseaseEntity:FactorVIIIDeficiency

inferred_gene_hgnc:3546

inferred_gene_source:hgnc_tag

Zygosity:NoZygosityAssertion

InheritancePattern:NoInheritanceAssertion

FVIIItesting:Partial

HGNC:3546

ParentalTest:Unknown

CaseInfo

Gene:F8

Mutation:Missense

CAID:CA10568060

ClinGen Coag Fac Def VCEP

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC3964430/

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